Monday, February 18, 2008
79 - van buchem's syndrome
Van Buchem's disease is a rare pathology with recessive transmission and variable expressivity characterised by a progressive cortical bone deposition. There are two types of this disease: Type I (Van Buchem's disease) progressive form for all life and with high level of PA (alkaline phosphate); Type II (Worth disease) the pathologic bone deposition stops at 20 years of age and the level of PA in the adult is normal. The most important histological feature is the bone hypertrophy with preservation of the lamellar frame. The bones interested are: skull vault, mandible, ribs, clavicle and diaphyseal portion of long bones. The first clinical manifestation became evident in childhood with progressive course. The narrowing of the cranial foramen is responsible of the progressive cranial nerves compression and the subsequent neurological signs. The disease is incurable; surgical treatment aims to reduce the intracranial pressure and to correct bones deformity. A clinical case in which the patient treated has esthetic problems but not neurological signs is presented.
Thursday, February 14, 2008
78 - hutchinson's triad ( hutchinson's teeth )
medicine some times looks so easy . just by looking at the two incisors u can make a diagnosis . this picture shows the hutchinsons incisors which are characteristic of CONGENITAL SYPHILIS . by the way the diagnostic criteria of the congenital syphilis are called the hutchinsons triad and they are
a- HUTCHINSONS TEETH - AS U CAN SEE ABOVE
b- INTERSTITIAL KERATITIS
c- EIGTH NERVE DEAFNESS ( VESTIBULO COCHLEAR NERVE )
77 - eponyms in medicine - part 9
271 - Rosenthal fibers is inclusions that develop in astrocytes in chronic reactive and neoplastic proliferations; abundant in Alexander’s disease.
272 - Klein-Waardenburg syndrome is Waardenburg syndrome type III.
273 - Boas’s sign is right subscapular pain due to cholelithiasis - <7% sensitive.
274 - Behçet’s disease is triad of aphthous ulcers - genital ulcerations - and ocular inflammation (posterior uveitis). Associated with erythema nodosum - cutaneous pustular vasculitis - also synovitis - CNS vasculitis involving brain stem - thrombophlebitis - and positive pathergy response. Described by Turkish dermatologist Behçet in 1937; also known as Silk Road disease due to clustering of cases along the Silk Road.
275 - Kaposi’s sarcoma is low-grade vascular tumor associated with HHV-8 - four forms - classic (older men of Mediterranean or Jewish extraction) - African - organ transplant-associated - and AIDS; differential for skin lesions includes bacillary angiomatosis from Bartonella.
276 - Charcot’s joints is neurogenic joint degeneration - can be secondary to syphilis - peripheral neuropathy.
277 - There are two sets of Charcot's triads, both of which are sets of clinical signs relating to quite separate diseases. One pertains to multiple sclerosis while the other refers to ascending cholangitis. Charcot's triads are named for Jean-Martin Charcot (1825-1893), the French neurologist who first described these combinations of signs in relation to these diseases.
Charcot's triad 1: The combination of nystagmus, intention tremor, and scanning or staccato speech. This triad is sometimes associated with multiple sclerosis but is not, however, as previously considered by some authors, pathognomonic for multiple sclerosis.
Charcot's triad 2: The combination of jaundice; fever, usually with rigors; and right upper quadrant abdominal pain. Occurs as a result of ascending cholangitis. When the presentation also includes hypotension and mental status changes, it is known as Reynolds' pentad.
278 - Rebuck skin window is dermal abrasion technique for testing tissue penetration of neutrophils - scraping forearm - then putting coverslip over it - checking glass for neutrophils.
279 - Mustard procedure is for treating transposition of great vessels - now rarely used; an atrial inversion procedure which connects RA to LV - which pumps out to pulmonary arteries - and connects LA to RV - which becomes systemic pump to aorta; variant uses pericardial or prosthetic intraatrial baffles.
280 - Stransky’s sign is involuntary dorsiflexion of the toes after firmly abducting the 5th digit for 2 seconds - and then acutely letting it go in upper motor neuron defects.
FOR MORE EPONYMS IN MEDICINE GO TO www.medeponyms.blogspot.com
281 - Civatte bodies is aka colloid bodies; in lichen planus; anucleate - necrotic basal cells becoming incorporated into the inflamed papillary epidermis.
282 - Miller Fisher test is in normal pressure hydrocephalus - objective gait assessment before and after 30 cc CSF removed reflecting prognosis for shunting.
283 - Osler-Weber-Rendu disease is hereditary hemorrhagic telangiectasia - larger lesions can be a source of chronic blood loss - systemic emboli - hypoxemia - hepatic dysfunction - and a high-output cardiac failure; important risk factor for brain abscess - especially in affected patients with clubbing - cyanosis - and/or polycythemia; use aminocaproic acid (an antifibrinolytic agent).
284 - Rapoport-Luebering shunt is in red blood cells - pathway converting 1 -3-diphosphoglyceric acid to 2 -3-DPG and then to 3-phosphoglyceric acid; enzyme is diphosphoglycerate synthetase; 2 -3-DPG reduces affinity of hemoglobin for oxygen; 2 -3-DPG rises with alkalosis and decreases with acidosis - result of effect of pH on enzyme.
285 - Alexander’s disease is leukodystrophy-like neurodegenerative disease presenting in infancy or childhood; characterized by Rosenthal fibers.
286 - Hirschprung’s disease is megacolon; congenital disorder characterized by colonic dilatation proximal to an aganglionic - contracted distal colon and rectum; caused by gestational failure of neural crest cells to migrate to distal colon; an AD form has been reported with mutations of the RET gene - and an AR form with mutation of the endothelin-B-receptor gene.
287 - Looser’s zones is radiolucent narrow lines that lie either at right angles or obliquely to the cortical outlines of bones and often transect them; bilateral and symmetric - found at the axillary margins of the scapula - lower ribs - neck of the proximal femurs - and posterior regions of the proximal ulnas; related either to stress fractures or to mechanical erosion by penetrating nutrient arteries; aka Milkman’s fractures.
288 - Williams’s syndrome is supravalvular aortic stenosis - mental retardation - elfin facies - association with hypercalcemia due to abnormal sensitivity to vitamin D - idiopathic hypercalcemia of pregnancy - loquacious personality - abnormally sensitive hearing; from deletion in elastin gene and probably several adjacent genes.
289 - Burnett’s syndrome is far-advanced milk-alkali syndrome - due to long-standing calcium and alkali ingestion; severe hypercalcemia - irreversible renal failure - and phosphate retention - may be accompanied by ectopic calcification; also Cope’s syndrome.
290 - Prader-Willi syndrome is deletion of 15q11-q13 - paternally derived; uncontrollable hyperphagia after 12 months.
291 - Uhl’s anomaly is paper thin parietal myocardium - usually but not always limited to right ventricle - presents as heart failure in infancy or early childhood.
292 - Muir-Torre syndrome is patients with hereditary nonpolyposis colon cancer (HNPCC) who also develop benign or malignant sebaceous skin tumors (often basal cell or squamous cell).
293 - Gerhardt’s sign is in aortic regurgitation - pulsation of the spleen in the presence of splenomegaly; also Sailer’s sign.
294 - Volkmann contracture is sequelae of compartment syndrome where there is contraction of forearm flexors.
295 - Homer-Wright pseudorosettes is in neuroblastoma - tumor cells arranged about a central space filled with fibrillar extensions of the cells.
296 - Gilbert’s syndrome is with the exception of hemolytic anemias - most common cause of mild unconjugated hyperbilirubinemia from mild decrease glucoronyltransferase activity - responds to phenobarbital - affects up to 7% of population.
297 - Austrian triad is clinical triad of pneumococcal pneumonia - meningitis - and endocarditis (classically aortic valve endocarditis associated with aortic regurgitation); described by Robert Austrian.
298 - Chvostek’s sign is hypocalcemia - in latent tetany - tapping the facial nerve against the bone just anterior to the ear producing ipsilateral contraction of facial muscles.
299 - Eagle-Barrett syndrome is prune-belly syndrome with triad of abdominal muscle deficiency - urinary tract abnormalities - and cryptorchidism.
300 - Desçemet’s membrane is membrane that forms the deepest layer of the cornea and functions as thin basement membrane for endothelium; location where copper is deposited in Wilson’s disease Kayser-Fleischer rings.
272 - Klein-Waardenburg syndrome is Waardenburg syndrome type III.
273 - Boas’s sign is right subscapular pain due to cholelithiasis - <7% sensitive.
274 - Behçet’s disease is triad of aphthous ulcers - genital ulcerations - and ocular inflammation (posterior uveitis). Associated with erythema nodosum - cutaneous pustular vasculitis - also synovitis - CNS vasculitis involving brain stem - thrombophlebitis - and positive pathergy response. Described by Turkish dermatologist Behçet in 1937; also known as Silk Road disease due to clustering of cases along the Silk Road.
275 - Kaposi’s sarcoma is low-grade vascular tumor associated with HHV-8 - four forms - classic (older men of Mediterranean or Jewish extraction) - African - organ transplant-associated - and AIDS; differential for skin lesions includes bacillary angiomatosis from Bartonella.
276 - Charcot’s joints is neurogenic joint degeneration - can be secondary to syphilis - peripheral neuropathy.
277 - There are two sets of Charcot's triads, both of which are sets of clinical signs relating to quite separate diseases. One pertains to multiple sclerosis while the other refers to ascending cholangitis. Charcot's triads are named for Jean-Martin Charcot (1825-1893), the French neurologist who first described these combinations of signs in relation to these diseases.
Charcot's triad 1: The combination of nystagmus, intention tremor, and scanning or staccato speech. This triad is sometimes associated with multiple sclerosis but is not, however, as previously considered by some authors, pathognomonic for multiple sclerosis.
Charcot's triad 2: The combination of jaundice; fever, usually with rigors; and right upper quadrant abdominal pain. Occurs as a result of ascending cholangitis. When the presentation also includes hypotension and mental status changes, it is known as Reynolds' pentad.
278 - Rebuck skin window is dermal abrasion technique for testing tissue penetration of neutrophils - scraping forearm - then putting coverslip over it - checking glass for neutrophils.
279 - Mustard procedure is for treating transposition of great vessels - now rarely used; an atrial inversion procedure which connects RA to LV - which pumps out to pulmonary arteries - and connects LA to RV - which becomes systemic pump to aorta; variant uses pericardial or prosthetic intraatrial baffles.
280 - Stransky’s sign is involuntary dorsiflexion of the toes after firmly abducting the 5th digit for 2 seconds - and then acutely letting it go in upper motor neuron defects.
FOR MORE EPONYMS IN MEDICINE GO TO www.medeponyms.blogspot.com
281 - Civatte bodies is aka colloid bodies; in lichen planus; anucleate - necrotic basal cells becoming incorporated into the inflamed papillary epidermis.
282 - Miller Fisher test is in normal pressure hydrocephalus - objective gait assessment before and after 30 cc CSF removed reflecting prognosis for shunting.
283 - Osler-Weber-Rendu disease is hereditary hemorrhagic telangiectasia - larger lesions can be a source of chronic blood loss - systemic emboli - hypoxemia - hepatic dysfunction - and a high-output cardiac failure; important risk factor for brain abscess - especially in affected patients with clubbing - cyanosis - and/or polycythemia; use aminocaproic acid (an antifibrinolytic agent).
284 - Rapoport-Luebering shunt is in red blood cells - pathway converting 1 -3-diphosphoglyceric acid to 2 -3-DPG and then to 3-phosphoglyceric acid; enzyme is diphosphoglycerate synthetase; 2 -3-DPG reduces affinity of hemoglobin for oxygen; 2 -3-DPG rises with alkalosis and decreases with acidosis - result of effect of pH on enzyme.
285 - Alexander’s disease is leukodystrophy-like neurodegenerative disease presenting in infancy or childhood; characterized by Rosenthal fibers.
286 - Hirschprung’s disease is megacolon; congenital disorder characterized by colonic dilatation proximal to an aganglionic - contracted distal colon and rectum; caused by gestational failure of neural crest cells to migrate to distal colon; an AD form has been reported with mutations of the RET gene - and an AR form with mutation of the endothelin-B-receptor gene.
287 - Looser’s zones is radiolucent narrow lines that lie either at right angles or obliquely to the cortical outlines of bones and often transect them; bilateral and symmetric - found at the axillary margins of the scapula - lower ribs - neck of the proximal femurs - and posterior regions of the proximal ulnas; related either to stress fractures or to mechanical erosion by penetrating nutrient arteries; aka Milkman’s fractures.
288 - Williams’s syndrome is supravalvular aortic stenosis - mental retardation - elfin facies - association with hypercalcemia due to abnormal sensitivity to vitamin D - idiopathic hypercalcemia of pregnancy - loquacious personality - abnormally sensitive hearing; from deletion in elastin gene and probably several adjacent genes.
289 - Burnett’s syndrome is far-advanced milk-alkali syndrome - due to long-standing calcium and alkali ingestion; severe hypercalcemia - irreversible renal failure - and phosphate retention - may be accompanied by ectopic calcification; also Cope’s syndrome.
290 - Prader-Willi syndrome is deletion of 15q11-q13 - paternally derived; uncontrollable hyperphagia after 12 months.
291 - Uhl’s anomaly is paper thin parietal myocardium - usually but not always limited to right ventricle - presents as heart failure in infancy or early childhood.
292 - Muir-Torre syndrome is patients with hereditary nonpolyposis colon cancer (HNPCC) who also develop benign or malignant sebaceous skin tumors (often basal cell or squamous cell).
293 - Gerhardt’s sign is in aortic regurgitation - pulsation of the spleen in the presence of splenomegaly; also Sailer’s sign.
294 - Volkmann contracture is sequelae of compartment syndrome where there is contraction of forearm flexors.
295 - Homer-Wright pseudorosettes is in neuroblastoma - tumor cells arranged about a central space filled with fibrillar extensions of the cells.
296 - Gilbert’s syndrome is with the exception of hemolytic anemias - most common cause of mild unconjugated hyperbilirubinemia from mild decrease glucoronyltransferase activity - responds to phenobarbital - affects up to 7% of population.
297 - Austrian triad is clinical triad of pneumococcal pneumonia - meningitis - and endocarditis (classically aortic valve endocarditis associated with aortic regurgitation); described by Robert Austrian.
298 - Chvostek’s sign is hypocalcemia - in latent tetany - tapping the facial nerve against the bone just anterior to the ear producing ipsilateral contraction of facial muscles.
299 - Eagle-Barrett syndrome is prune-belly syndrome with triad of abdominal muscle deficiency - urinary tract abnormalities - and cryptorchidism.
300 - Desçemet’s membrane is membrane that forms the deepest layer of the cornea and functions as thin basement membrane for endothelium; location where copper is deposited in Wilson’s disease Kayser-Fleischer rings.
76 - eponyms in medicine - part 8
251 - Duncan’s disease is X-linked lymphoproliferative syndrome - normal response to childhood infections but develop fatal lymphoproliferative disorders after infection with EBV; most patients with this syndrome die of infectious mononucleosis.
252 - Gerstmann syndrome is finger agnosia - agraphia - right-left disorientation - and dyscalculia.
253 - Jamaican vomiting sickness is poisoning from hypoglycin A in unripe ackee fruit; hypoglycin A is potent hypoglycemic agent that decreases rate of fatty-acid beta oxidation probably by inhibition of acyl dehydrogenase flavin-dependent oxidation; causes liver damage indistinguishable from Reye’s syndrome.
254 - Adie syndrome, sometimes known as Holmes-Adie's syndrome or Adie's Tonic Pupil, is a neurological disorder which affects the pupil of the eye and the autonomic nervous system.[1] It is caused by damage to the postganglionic fibers of the parasympathetic innervation of the eye, usually by a viral or bacterial infection which causes inflammation, and characterized by a tonically dilated pupil.Adie syndrome presents with three hallmark symptoms, namely abnormal pupil size, loss of deep tendon reflexes and diaphoresis.[1] Other signs may include hyperopia due to accommodative paresis, photophobia and difficulty reading.
255 - clay shoveler’s fracture is fracture of spinous process of C7.
256 - jacksonian march is in simple partial seizures - clonic movements of a single muscle group spreading to involve contiguous regions of the motor cortex.
257 - Goldenhar syndrome is syndrome of oculoauriculovertebral dysplasia characterized by unilateral deformity of the external ear and small ipsilateral half of the face with epibulbar lipodermoid and vertebral anomalies; autosomal dominant.
258 - Schwartz’s dictum is no acid - no ulcer.
259 - Young’s syndrome is clinical features similar to cystic fibrosis - including bronchiectasis - sinusitis - and obstructive azoospermia - but don’t have increased sweat chloride values - nor pancreatic insufficiency - nor abnormal nasal potential differences - nor the CF delta F508 mutation; affected individuals are often middle-aged males identified during evaluation for infertility.
260 - Mayer-Rokitansky-Küster-Hauser syndrome is absence of vagina from abnormality of müllerian development.
FOR MORE EPONYMS GO TO www.medeponyms.blogspot.com
261 - Lambert - canals of is direct accessory bronchioalveolar connections.
262 - Carnett’s test is head raise - tenderness persists in abdominal wall condition (rectus hematoma) whereas pain due to intraperitoneal disease lessens.
263 - Hardy-Weinberg equilibrium is p^2 + 2pq + q^2 for describing the frequency of these genotypes; sexual reproduction doesn’t cause a constant reduction in genetic variation in each generation but remains constant.
264 - Pendred’s syndrome is autosomal recessive goiter and congenital sensorineural deafness from mutation in pendrin - a transport protein that affects organification of thyroglobulin; also malformations of cochlea and hypothyroidism (40%); pendrin involved in transport of chloride and iodide.
265 - Cullen’s sign is a faintly blue coloration particularly of umbilicus as the result of retroperitoneal bleeding from any cause - but especially in ruptured ectopic pregnancy; also seen in acute pancreatitis (1-2%).
266 - Jefferson fracture is fracture of C1 at more than one site; rarely associated with neurological deficits because of size of spinal canal at this level.
267 - Takayasu’s disease is aortic arch syndrome - pulseless disease; panartertis of the great vessels that’s most common in Asian women.
268 - baghdad boil - Leishmaniasis - This disease is also known as Leichmaniosis, Leishmaniose, leishmaniose, and formerly, Orient Boils, Baghdad Boil, kala azar, black fever, sandfly disease, Dum-Dum fever or espundia.Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly, including flies in the genus Lutzomyia in the New World and Phlebotomus in the Old World. The disease was named in 1901 for the Scottish pathologist William Boog Leishman.
269 - Van Wyk-Grumbach syndrome is primary hypothyroidism associated with precocious puberty and galactorrhea.
270 - Destot’s sign is scrotal hematoma suggesting pelvic fracture.
FOR MORE EPONYMS GO TO www.medeponyms.blogspot.com
252 - Gerstmann syndrome is finger agnosia - agraphia - right-left disorientation - and dyscalculia.
253 - Jamaican vomiting sickness is poisoning from hypoglycin A in unripe ackee fruit; hypoglycin A is potent hypoglycemic agent that decreases rate of fatty-acid beta oxidation probably by inhibition of acyl dehydrogenase flavin-dependent oxidation; causes liver damage indistinguishable from Reye’s syndrome.
254 - Adie syndrome, sometimes known as Holmes-Adie's syndrome or Adie's Tonic Pupil, is a neurological disorder which affects the pupil of the eye and the autonomic nervous system.[1] It is caused by damage to the postganglionic fibers of the parasympathetic innervation of the eye, usually by a viral or bacterial infection which causes inflammation, and characterized by a tonically dilated pupil.Adie syndrome presents with three hallmark symptoms, namely abnormal pupil size, loss of deep tendon reflexes and diaphoresis.[1] Other signs may include hyperopia due to accommodative paresis, photophobia and difficulty reading.
255 - clay shoveler’s fracture is fracture of spinous process of C7.
256 - jacksonian march is in simple partial seizures - clonic movements of a single muscle group spreading to involve contiguous regions of the motor cortex.
257 - Goldenhar syndrome is syndrome of oculoauriculovertebral dysplasia characterized by unilateral deformity of the external ear and small ipsilateral half of the face with epibulbar lipodermoid and vertebral anomalies; autosomal dominant.
258 - Schwartz’s dictum is no acid - no ulcer.
259 - Young’s syndrome is clinical features similar to cystic fibrosis - including bronchiectasis - sinusitis - and obstructive azoospermia - but don’t have increased sweat chloride values - nor pancreatic insufficiency - nor abnormal nasal potential differences - nor the CF delta F508 mutation; affected individuals are often middle-aged males identified during evaluation for infertility.
260 - Mayer-Rokitansky-Küster-Hauser syndrome is absence of vagina from abnormality of müllerian development.
FOR MORE EPONYMS GO TO www.medeponyms.blogspot.com
261 - Lambert - canals of is direct accessory bronchioalveolar connections.
262 - Carnett’s test is head raise - tenderness persists in abdominal wall condition (rectus hematoma) whereas pain due to intraperitoneal disease lessens.
263 - Hardy-Weinberg equilibrium is p^2 + 2pq + q^2 for describing the frequency of these genotypes; sexual reproduction doesn’t cause a constant reduction in genetic variation in each generation but remains constant.
264 - Pendred’s syndrome is autosomal recessive goiter and congenital sensorineural deafness from mutation in pendrin - a transport protein that affects organification of thyroglobulin; also malformations of cochlea and hypothyroidism (40%); pendrin involved in transport of chloride and iodide.
265 - Cullen’s sign is a faintly blue coloration particularly of umbilicus as the result of retroperitoneal bleeding from any cause - but especially in ruptured ectopic pregnancy; also seen in acute pancreatitis (1-2%).
266 - Jefferson fracture is fracture of C1 at more than one site; rarely associated with neurological deficits because of size of spinal canal at this level.
267 - Takayasu’s disease is aortic arch syndrome - pulseless disease; panartertis of the great vessels that’s most common in Asian women.
268 - baghdad boil - Leishmaniasis - This disease is also known as Leichmaniosis, Leishmaniose, leishmaniose, and formerly, Orient Boils, Baghdad Boil, kala azar, black fever, sandfly disease, Dum-Dum fever or espundia.Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly, including flies in the genus Lutzomyia in the New World and Phlebotomus in the Old World. The disease was named in 1901 for the Scottish pathologist William Boog Leishman.
269 - Van Wyk-Grumbach syndrome is primary hypothyroidism associated with precocious puberty and galactorrhea.
270 - Destot’s sign is scrotal hematoma suggesting pelvic fracture.
FOR MORE EPONYMS GO TO www.medeponyms.blogspot.com
75 - eponyms in medicine - part 7
230 - Fanconi’s syndrome is generalized dysfunction of proximal renal tubule leading to glycosuria - hyperphosphaturia - hypophasphatemia - aminoaciduria - and systemic acidosis; may be associated with out-dated tetracyclines.
231 - hangman’s fracture is fracture of pars interarticularis of C2 - hyperextension injury.
232 - Castellani’s paint is topical fungicidal and bactericidal mixture of resorcinol (8 g) - acetone (4 mL) - magenta (0.4 g) - phenol (4 g) - boric acid (0.8 g) - industrial methylated spirit 90% (8.5 mL) - and water (to 100 mL); particularly effective against intertriginous tinea and acute Candida paronychia; named after Sir Aldo Castellani.
233 - McDonald’s sign is uterine corpus and cervix can be easily flexed on each other due to Hegar’s sign.
234 - Paget’s disease of vulva is intraepithelial adenocarcinoma - less than 1% of all vulva malignancies.
235 - Finkelstein’s test is in de Quervain’s tenosynovitis - dorsal thumb pain when the wrist is deviated in an ulnar fashion and the thumb is flexed across the palm.
236 - Rotor’s syndrome is poorly defined defects in hepatic uptake and storage of bilirubin; resembles Dubin-Johnson syndrome - but liver pigment missing.
237 - Duffy blood group system is named after Mr. Duffy - a patient with hemophilia in whom anti-Fya was discovered by Cutbush in 1950; abbreviation Fy used because “Du” had already been taken; Fy6 antigen is the receptor for Plasmodium vivax.
238 - Dubin-Johnson syndrome is mostly conjugated hyperbilirubinemia from defect in transport of bilirubin and other organic anions across the canaliculus; other liver function tests normal; accumulation of dark pigment in liver lysosomes.
239 - Vincent’s infection is acute necrotizing ulcerative gingivitis - occurring in patients with decreased resistance to infection - from concurrent infection with the symbiotic bacteria Fusobacterium fusiforme and Borrelia vincentii.
240 - Dance’s sign is empty right lower quadrant in children with ileocecal intussusception.
241 - Pickwickian syndrome is obesity hypoventilation syndrome defined by extreme obesity and alveolar hypoventilation during wakefulness - characterized by hypersomnolence - dyspnea - hypoxemia (cyanosis - polycythemia - and plethora) - and pulmonary hypertension leading to RV failure and edema; based upon Charles Dickens’ book “The Posthumous Papers of the Pickwick Club” and the character Joe who was a “wonderfully fat boy - standing upright with his eyes closed”.
242 - Voight - lines of is boundaries which delimit distribution area of main cutaneous nerves; seen in black and Asian skin and rarely in white subjects.
243 - Aaron's sign is a referred pain felt in the epigastrium upon continuous firm pressure over McBurney's point. It is indicative of appendicitis.Aaron's sign is named for Charles Dettie Aaron, an American gastroenterologist.
244 - Gianotti-Crosti syndrome is reactive exanthem - first described in association with hepatitis B infection (papular acrodermatitis of childhood - papular eruption on face and limbs); also associated with EBV - CMV infection.
245 - Claude’s syndrome is third nerve palsy combined with contralateral ataxia with midbrain infarction and injury to both red nucleus and superior cerebellar peduncle (includes signs of both Nothnagel’s and Benedikt’s syndrome).
246 - Parinaud’s syndrome is dorsal midbrain syndrome with supranuclear vertical gaze disorder from damage to posterior commissure with loss of upgaze - convergence-retraction nystagmus - downward ocular deviation - lid retraction - due to hydrocephalus from aqueductal stenosis - pineal region tumors.
247 - Fay sign is in carotid arteritis - pressure along the carotid causing pain to spread in distal branches of external carotid to jaw - ear - and temple.
248 - fox sign is seen in acute pancreatitis .Fox's sign is in hemorrhagic pancreatitis - ecchymosis of the inguinal ligament due to blood tracking from the retroperitoneum and collecting at the inguinal ligament.
249 - floating water lily sign is seen in x-ray of hydatid cyst of liver .
250 - HACEK group of organisms - HEMOPHILUS , ACTINOBACILLUS , CARDIOBACTERIUM , EIKINELLA and KINGINELLA .
231 - hangman’s fracture is fracture of pars interarticularis of C2 - hyperextension injury.
232 - Castellani’s paint is topical fungicidal and bactericidal mixture of resorcinol (8 g) - acetone (4 mL) - magenta (0.4 g) - phenol (4 g) - boric acid (0.8 g) - industrial methylated spirit 90% (8.5 mL) - and water (to 100 mL); particularly effective against intertriginous tinea and acute Candida paronychia; named after Sir Aldo Castellani.
233 - McDonald’s sign is uterine corpus and cervix can be easily flexed on each other due to Hegar’s sign.
234 - Paget’s disease of vulva is intraepithelial adenocarcinoma - less than 1% of all vulva malignancies.
235 - Finkelstein’s test is in de Quervain’s tenosynovitis - dorsal thumb pain when the wrist is deviated in an ulnar fashion and the thumb is flexed across the palm.
236 - Rotor’s syndrome is poorly defined defects in hepatic uptake and storage of bilirubin; resembles Dubin-Johnson syndrome - but liver pigment missing.
237 - Duffy blood group system is named after Mr. Duffy - a patient with hemophilia in whom anti-Fya was discovered by Cutbush in 1950; abbreviation Fy used because “Du” had already been taken; Fy6 antigen is the receptor for Plasmodium vivax.
238 - Dubin-Johnson syndrome is mostly conjugated hyperbilirubinemia from defect in transport of bilirubin and other organic anions across the canaliculus; other liver function tests normal; accumulation of dark pigment in liver lysosomes.
239 - Vincent’s infection is acute necrotizing ulcerative gingivitis - occurring in patients with decreased resistance to infection - from concurrent infection with the symbiotic bacteria Fusobacterium fusiforme and Borrelia vincentii.
240 - Dance’s sign is empty right lower quadrant in children with ileocecal intussusception.
241 - Pickwickian syndrome is obesity hypoventilation syndrome defined by extreme obesity and alveolar hypoventilation during wakefulness - characterized by hypersomnolence - dyspnea - hypoxemia (cyanosis - polycythemia - and plethora) - and pulmonary hypertension leading to RV failure and edema; based upon Charles Dickens’ book “The Posthumous Papers of the Pickwick Club” and the character Joe who was a “wonderfully fat boy - standing upright with his eyes closed”.
242 - Voight - lines of is boundaries which delimit distribution area of main cutaneous nerves; seen in black and Asian skin and rarely in white subjects.
243 - Aaron's sign is a referred pain felt in the epigastrium upon continuous firm pressure over McBurney's point. It is indicative of appendicitis.Aaron's sign is named for Charles Dettie Aaron, an American gastroenterologist.
244 - Gianotti-Crosti syndrome is reactive exanthem - first described in association with hepatitis B infection (papular acrodermatitis of childhood - papular eruption on face and limbs); also associated with EBV - CMV infection.
245 - Claude’s syndrome is third nerve palsy combined with contralateral ataxia with midbrain infarction and injury to both red nucleus and superior cerebellar peduncle (includes signs of both Nothnagel’s and Benedikt’s syndrome).
246 - Parinaud’s syndrome is dorsal midbrain syndrome with supranuclear vertical gaze disorder from damage to posterior commissure with loss of upgaze - convergence-retraction nystagmus - downward ocular deviation - lid retraction - due to hydrocephalus from aqueductal stenosis - pineal region tumors.
247 - Fay sign is in carotid arteritis - pressure along the carotid causing pain to spread in distal branches of external carotid to jaw - ear - and temple.
248 - fox sign is seen in acute pancreatitis .Fox's sign is in hemorrhagic pancreatitis - ecchymosis of the inguinal ligament due to blood tracking from the retroperitoneum and collecting at the inguinal ligament.
249 - floating water lily sign is seen in x-ray of hydatid cyst of liver .
250 - HACEK group of organisms - HEMOPHILUS , ACTINOBACILLUS , CARDIOBACTERIUM , EIKINELLA and KINGINELLA .
74 - eponyms in medicine - part 6
211 - Eagle effect is failure of penicillin in streptococcal infection when bacteria aren’t growing - i.e. - beta-lactams being more effective against rapidly growing bacteria in the early stages and less effective as bacterial growth slows (described by Eagle in 1952).
212 - Ortner’s syndrome is hoarseness from compression of left recurrent laryngeal nerve by a greatly dilated left atrium (e.g. - in mitral stenosis) - enlarged tracheobronchial lymph nodes - and dilated pulmonary artery.
213 - Weber test is 512 Hz tuning fork placed on patients’s forehead; sound localizes towards size with conductive hearing loss; localizes away from the side with soensorineural loss.
214 - Hering - canals of is at the fringes of the portal tract - from the joining of bile canaliculi.
215 - Pott’s disease is tuberculous involvement of the spine; occurs in about 2% of TB cases.
216 - Hunter’s syndrome is mucopolysaccharidosis (II) - iduronate sulfatase deficiency - X-linked - affecting degradation of dermatan sulfate and heparan sulfate - resulting in physical deformity and mental retardation - no corneal clouding.
217 - Imerslund-Grasbeck syndrome is juvenile megaloblastic anemia - an autosomal recessive condition involving mutation in cubulin - receptor that binds IF-B12 complex; also associated with proteinuria.
218 - Jerusalem syndrome is psychosis affecting visitors to Jerusalem whereby afflicted develop psychotic religious delusions; affects a handful of visitors each year.
219 - Archibald’s sign is in pseudohypoparathyroidism of Albert’s hereditary osteodystrophy - characteristic shortening of the fourth and fifth digits as dimpling over the knuckles of a clenched fist.
220 - Susac syndrome is microangiopathy of the inner ear - retina - and brain leading to deafness - retinal artery occlusion - and encephalopathy.
212 - Ortner’s syndrome is hoarseness from compression of left recurrent laryngeal nerve by a greatly dilated left atrium (e.g. - in mitral stenosis) - enlarged tracheobronchial lymph nodes - and dilated pulmonary artery.
213 - Weber test is 512 Hz tuning fork placed on patients’s forehead; sound localizes towards size with conductive hearing loss; localizes away from the side with soensorineural loss.
214 - Hering - canals of is at the fringes of the portal tract - from the joining of bile canaliculi.
215 - Pott’s disease is tuberculous involvement of the spine; occurs in about 2% of TB cases.
216 - Hunter’s syndrome is mucopolysaccharidosis (II) - iduronate sulfatase deficiency - X-linked - affecting degradation of dermatan sulfate and heparan sulfate - resulting in physical deformity and mental retardation - no corneal clouding.
217 - Imerslund-Grasbeck syndrome is juvenile megaloblastic anemia - an autosomal recessive condition involving mutation in cubulin - receptor that binds IF-B12 complex; also associated with proteinuria.
218 - Jerusalem syndrome is psychosis affecting visitors to Jerusalem whereby afflicted develop psychotic religious delusions; affects a handful of visitors each year.
219 - Archibald’s sign is in pseudohypoparathyroidism of Albert’s hereditary osteodystrophy - characteristic shortening of the fourth and fifth digits as dimpling over the knuckles of a clenched fist.
220 - Susac syndrome is microangiopathy of the inner ear - retina - and brain leading to deafness - retinal artery occlusion - and encephalopathy.
73 - eponyms in medicine - part 5
201 - The Mentzer index is used to differentiate iron deficiency anemia from beta thalassemia. It is calculated from the results of a complete blood count. If the quotient of the mean corpuscular volume divided by the red blood cell count is less than 13, thalassemia is more likely. If the result is greater than 14, then iron-deficiency anemia is more likely.
202 - Myerson's sign is a medical condition where a patient is unable to resist blinking when tapped on the glabella, the area above the nose and between the eyebrows. It is often an early symptom of Parkinson's disease.
203 - Swedish porphyria is acute intermittent porphyria.
204 - Bornholm disease is coxsackie virus producing pleurodynia - fever - cough - sore throat - myalgias in shoulder - chest - and abdomen; Bornholm is a Danish island in Baltic sea.
205 - Hamman-Rich syndrome is acute interstitial pneumonia - a rare fulminant form of lung injury that presents acutely (days to weeks from onset of symptoms) - most commonly occurs in previously healthy individual - characterized by a temporally uniform lesion which reflects an episode of acute lung injury at a single point in time (different from usual interstitial pneumonia where lesions are different age); path shows diffuse alveolar damage (a nonspecific reaction pattern).
206 - Reichert’s cartilage is branchial arch 2.
207 - Potter’s sequence is from oligohydramnios (from e.g. renal agenesis - amniotic leak) leading to amnion nodosum - fetal compression which leads to pulmonary hypoplasia - altered facies - positioning defects of feet - hands - and breech presentation.
208 - CADASIL is cerebral autosomal dominant arteropathy with subcortical infarcts and leukoencephalopathy - rare hereditary cause of stroke that may involve Notch3 gene characterized by recurrent strokes (usually infarcts) and dementia.
209 - Bechterew’s disease is ankylosing spondylitis.
210 - Osler’s nodes is tender to painful - purplish - split pea-sized - subcutaneous nodules in the pulp of the fingers and/or toes and thenar and hypothenar eminences; transient - disappearing within several days (5% of patients); in acute bacterial endocarditis - associated with minute infective emboli; aspiration may reveal the causative organism; in subacute bacterial endocarditis - associated with immune complexes and small-vessel arteritis of skin.
72 - eponyms in medicine - part 4
151 - Kernig sign is first flex patient’s leg at both hip and knee - and then straighten knee; positive sign is pain and increased resistance to extending knee - suggesting meningeal irritation.
152 - Lisker’s sign is in thrombophlebitis or deep vein thrombosis - tenderness to percussion of the medial anterior tibial surface.
153 - Flatbush diabetes is GAD antibody negative diabetes in adult black subjects with diabetic ketoacidosis and increased frequency of human leukocyte antigen DR3 and DR4.
154 - Canavan disease is autosomal recessive infantile spongy degeneration of the brain with Alzheimer type II cells - increased prevalence among Ashkenazi from mutation in aspartoacylase leading to increased levels of N-acetylaspartic acid - described in 1931.
155 - Marie’s sign is fine tremor in hyperthyroidism.
156 - Wright’s stain is stain used for blood and bone marrow films.
157 - Morgagni - hydatids of is fallopian tube cysts found near the fimbriated end or in the broad ligaments.
158 - Zieve’s syndrome is jaundice - hyperlipemia - and hemolytic anemia in alcoholic liver disease; described in 1958.
159 - Cushing’s triad is signs of increased ICP 1. hypertension 2. bradycardia 3. irregular respirations.
160 - Meissner’s plexus is submucous plexus; innervates glandular epithelium - muscularis mucosa - intestinal endocrine cells - and submucosal blood vessels.
161 - Auerbach’s plexus is myenteric plexus - between the longitudinal and circular layers of muscle; provides motor innervation to the two muscle layers and secretomotor innervation to the mucosa.
162 - Magendie - foramen of is midline foramen exiting out of fourth ventricle.
163 - Bertin - renal columns of is the spaces between adjacent pyramids where cortical tissue extends into .
164 - Hutchinson-Guilford syndrome is aka progeria a condition in which the normal development of the first year is followed by gross retardation of growth - with a senile appearance characterized by dry wrinkled skin - total alopecia - and bird-like facies; genetics unclear.
165 - Stein-Leventhal syndrome is polycystic ovarian disease.
166 - Maroni sign is erythema of the skin overlying thyroid in hyperthyroidism.
167 - Lhermitte-Duclos disease is dysplastic cerebellar gangliocytoma; associated with germ line PTEN mutations; felt to be a part of multiple hamartoma syndrome or Cowden’s syndrome.
168 - Ball’s disease is intracerebral leukocytostasis - potentially fatal complication of acute leukemia (especially AML) when peripheral blast cell count >100 -000/uL; leukemic cells capable of invading through endothelium and causing hemorrhage into brain; not generally seen with CLL or CML.
169 - Costen’s syndrome is ear pain - tinnitus - impaired hearing - and dizziness from temporomandibular joint dysfunction.
170 - Bohr equation is Vd/Vt - for determining ratio of physiologic dead space.
171 - Gorlin-Goltz syndrome is focal dermal hypoplasia characterzied by widespread lesions of dermal hypoplsia with herniation of adipose tissue - streaks of pigmentary disturbance following lines of Blaschko - and severe absence deformities of bone - mental retardation - defects of optic nerve.
172 - Doi’s sign is elicitation of diminished deep tendon reflexes after maximal voluntary contraction in Lambert-Eaton syndrome.
173 - Kussmaul-Maier disease is old name for polyarteritis nodosa.
174 - Lafora’s disease is progressive myoclonus epilepsy - autosomal recessive - onset teenage years - characterized by seizures and cumulative neurological deterioration - death usually within ten years of first symptoms; associated with intracellular inclusions (Lafora bodies); associated with mutation in gene EPM2A.
175 - Kveim antigen is saline suspension of human sarcoid tissue prepared from spleen of an individual with active sarcoidosis; used in Kveim-Sitzbach test.
176 - Schick’s test is for testing immune status to Cornyebacterium diphtheriae - intradermal injection of 0.1 mL of purified standardized toxin; if no inflammation - antitoxin present.
177 - Swyer-James syndrome is in pediatrics - acquired hypoplastic lung that develops after severe obliterative bronchiolitis associated with bronchiolar obstruction - bronchiectasis - and distal air-space destruction.
178 - Kernohan notch is focal impression against the cerebral peduncle - pressure against notch in uncal herniation.
179 - stiff-man syndrome is chronic disorder of involuntary stiffness - painful muscle spasms - and rigidity - predominantly in the axial muscles; often occurs in conjunction with autoimmune diseases - particularly type I diabetes - associated with circulating antibodies to glutamic acid decarboxylase.
180 - Steele-Richardson-Olszewski syndrome is aka progressive supranuclear palsy.
181 - Hollenhorst plaques is cholesterol emboli visible as small bright flecks lodged in arterial bifurcations in retina.
182 - Reinke crystals is in 25% of Leydig cell tumors - intracytoplasmic rod-shaped crystalloids.
183 - Heyde’s syndrome is association between bleeding from gastrointestinal angiodysplasia and severe aortic stenosis which may resolve with aortic valve replacement; may be explained by acquired type IIA von Willebrand’s syndrome; first described by Hyde in N Engl J Med 1958;259:196.
184 - Bannayan-Ruvalcaba-Riley syndrome is Bannayan-Zonana syndrome
185 - Brodman area is neuro anatomical classification of the cortex based on its cyto architecture into 52 areas; e.g. precentral gyrus Brodman 4 - striate cortex Brodman 17
186 - Dressler’s beat is fusion beat seen in ventricular tachycardia.
187 - Leydig cell tumors is testicular tumor derived from the stroma - may find Reinke crystals (q.v.).
188 - Jatene’s arterial switch is for treating transposition of great vessels - pulmonary artery and aorta are transected above valves and switched - and coronary arteries are moved from old aortic root to new aorta (former pulmonary root).
189 - Kartagener’s syndrome is a triad of sinusitis - bronchiectasis - and situs inversus; also associated with ciliary dysfunction; Manes Kartagener - Swiss physician - 1897-1975.
190 - Hippocratic fingers is clubbing.
191 - Oliver’s sign is in aortic aneurysm - pulsation of aorta felt through cricoid cartilage when chin is elevated.
192 - Brodie’s abscess is small - intraosseus abscess that frequently involves the cortex and is walled off by reactive bone.
193 - Spurling’s test is for diagnosing cervical radiculopathy - exerting downward pressure on the head while rotating the head towards the symptomatic side creating pain radiating into affected extremity.
194 - Parkland formula is total body surface area % burned x kg x 4; 1/2 in first 8 hours - second 1/2 given next 16 hours.
195 - farmer’s lung is hypersensitivity pneumonitis from exposure to antigens of microorganisms which colonize equipment used in farming - including from moldy hay - grain - silage ( e.g. thermophilic actinomycetes - fungus such as Aspergillus umbrosus).
196 - Drummond - marginal artery of is vessel which lies along mesenteric border of colon and supplies vasa recta; arises from right and left branches of middle colic artery and left and right colic arteries; also supplies collateral connection between superior and inferior mesenteric arteries.
197 - Heimlich maneuver is abdominal thrust maneuver for clearing airway (blocked by foreign object - e.g. food) described in 1974 by Henry Heimlich.
198 - Möbius’s sign is in Graves’s ophthalmopathy - failure of ocular convergence following close accommodation at a distance of 5 inches.
199 - Cheyne-Stokes breathing is regularly irregular pattern characterized by a progressive increase in the depth and at times frequency of respiration with a crescendo-decrescendo shape that eventually culminates in an apneic phase; seen in CHF but also in meningitis - CVA - pontine damage.
200 - Sly’s syndrome is mucopolysaccharidosis (VII) - from beta-glucoronidase deficiency - resulting in hepatosplenomegaly - physical deformity from defect in degradation of dermatan sulfate and heparan sulfate.
152 - Lisker’s sign is in thrombophlebitis or deep vein thrombosis - tenderness to percussion of the medial anterior tibial surface.
153 - Flatbush diabetes is GAD antibody negative diabetes in adult black subjects with diabetic ketoacidosis and increased frequency of human leukocyte antigen DR3 and DR4.
154 - Canavan disease is autosomal recessive infantile spongy degeneration of the brain with Alzheimer type II cells - increased prevalence among Ashkenazi from mutation in aspartoacylase leading to increased levels of N-acetylaspartic acid - described in 1931.
155 - Marie’s sign is fine tremor in hyperthyroidism.
156 - Wright’s stain is stain used for blood and bone marrow films.
157 - Morgagni - hydatids of is fallopian tube cysts found near the fimbriated end or in the broad ligaments.
158 - Zieve’s syndrome is jaundice - hyperlipemia - and hemolytic anemia in alcoholic liver disease; described in 1958.
159 - Cushing’s triad is signs of increased ICP 1. hypertension 2. bradycardia 3. irregular respirations.
160 - Meissner’s plexus is submucous plexus; innervates glandular epithelium - muscularis mucosa - intestinal endocrine cells - and submucosal blood vessels.
161 - Auerbach’s plexus is myenteric plexus - between the longitudinal and circular layers of muscle; provides motor innervation to the two muscle layers and secretomotor innervation to the mucosa.
162 - Magendie - foramen of is midline foramen exiting out of fourth ventricle.
163 - Bertin - renal columns of is the spaces between adjacent pyramids where cortical tissue extends into .
164 - Hutchinson-Guilford syndrome is aka progeria a condition in which the normal development of the first year is followed by gross retardation of growth - with a senile appearance characterized by dry wrinkled skin - total alopecia - and bird-like facies; genetics unclear.
165 - Stein-Leventhal syndrome is polycystic ovarian disease.
166 - Maroni sign is erythema of the skin overlying thyroid in hyperthyroidism.
167 - Lhermitte-Duclos disease is dysplastic cerebellar gangliocytoma; associated with germ line PTEN mutations; felt to be a part of multiple hamartoma syndrome or Cowden’s syndrome.
168 - Ball’s disease is intracerebral leukocytostasis - potentially fatal complication of acute leukemia (especially AML) when peripheral blast cell count >100 -000/uL; leukemic cells capable of invading through endothelium and causing hemorrhage into brain; not generally seen with CLL or CML.
169 - Costen’s syndrome is ear pain - tinnitus - impaired hearing - and dizziness from temporomandibular joint dysfunction.
170 - Bohr equation is Vd/Vt - for determining ratio of physiologic dead space.
171 - Gorlin-Goltz syndrome is focal dermal hypoplasia characterzied by widespread lesions of dermal hypoplsia with herniation of adipose tissue - streaks of pigmentary disturbance following lines of Blaschko - and severe absence deformities of bone - mental retardation - defects of optic nerve.
172 - Doi’s sign is elicitation of diminished deep tendon reflexes after maximal voluntary contraction in Lambert-Eaton syndrome.
173 - Kussmaul-Maier disease is old name for polyarteritis nodosa.
174 - Lafora’s disease is progressive myoclonus epilepsy - autosomal recessive - onset teenage years - characterized by seizures and cumulative neurological deterioration - death usually within ten years of first symptoms; associated with intracellular inclusions (Lafora bodies); associated with mutation in gene EPM2A.
175 - Kveim antigen is saline suspension of human sarcoid tissue prepared from spleen of an individual with active sarcoidosis; used in Kveim-Sitzbach test.
176 - Schick’s test is for testing immune status to Cornyebacterium diphtheriae - intradermal injection of 0.1 mL of purified standardized toxin; if no inflammation - antitoxin present.
177 - Swyer-James syndrome is in pediatrics - acquired hypoplastic lung that develops after severe obliterative bronchiolitis associated with bronchiolar obstruction - bronchiectasis - and distal air-space destruction.
178 - Kernohan notch is focal impression against the cerebral peduncle - pressure against notch in uncal herniation.
179 - stiff-man syndrome is chronic disorder of involuntary stiffness - painful muscle spasms - and rigidity - predominantly in the axial muscles; often occurs in conjunction with autoimmune diseases - particularly type I diabetes - associated with circulating antibodies to glutamic acid decarboxylase.
180 - Steele-Richardson-Olszewski syndrome is aka progressive supranuclear palsy.
181 - Hollenhorst plaques is cholesterol emboli visible as small bright flecks lodged in arterial bifurcations in retina.
182 - Reinke crystals is in 25% of Leydig cell tumors - intracytoplasmic rod-shaped crystalloids.
183 - Heyde’s syndrome is association between bleeding from gastrointestinal angiodysplasia and severe aortic stenosis which may resolve with aortic valve replacement; may be explained by acquired type IIA von Willebrand’s syndrome; first described by Hyde in N Engl J Med 1958;259:196.
184 - Bannayan-Ruvalcaba-Riley syndrome is Bannayan-Zonana syndrome
185 - Brodman area is neuro anatomical classification of the cortex based on its cyto architecture into 52 areas; e.g. precentral gyrus Brodman 4 - striate cortex Brodman 17
186 - Dressler’s beat is fusion beat seen in ventricular tachycardia.
187 - Leydig cell tumors is testicular tumor derived from the stroma - may find Reinke crystals (q.v.).
188 - Jatene’s arterial switch is for treating transposition of great vessels - pulmonary artery and aorta are transected above valves and switched - and coronary arteries are moved from old aortic root to new aorta (former pulmonary root).
189 - Kartagener’s syndrome is a triad of sinusitis - bronchiectasis - and situs inversus; also associated with ciliary dysfunction; Manes Kartagener - Swiss physician - 1897-1975.
190 - Hippocratic fingers is clubbing.
191 - Oliver’s sign is in aortic aneurysm - pulsation of aorta felt through cricoid cartilage when chin is elevated.
192 - Brodie’s abscess is small - intraosseus abscess that frequently involves the cortex and is walled off by reactive bone.
193 - Spurling’s test is for diagnosing cervical radiculopathy - exerting downward pressure on the head while rotating the head towards the symptomatic side creating pain radiating into affected extremity.
194 - Parkland formula is total body surface area % burned x kg x 4; 1/2 in first 8 hours - second 1/2 given next 16 hours.
195 - farmer’s lung is hypersensitivity pneumonitis from exposure to antigens of microorganisms which colonize equipment used in farming - including from moldy hay - grain - silage ( e.g. thermophilic actinomycetes - fungus such as Aspergillus umbrosus).
196 - Drummond - marginal artery of is vessel which lies along mesenteric border of colon and supplies vasa recta; arises from right and left branches of middle colic artery and left and right colic arteries; also supplies collateral connection between superior and inferior mesenteric arteries.
197 - Heimlich maneuver is abdominal thrust maneuver for clearing airway (blocked by foreign object - e.g. food) described in 1974 by Henry Heimlich.
198 - Möbius’s sign is in Graves’s ophthalmopathy - failure of ocular convergence following close accommodation at a distance of 5 inches.
199 - Cheyne-Stokes breathing is regularly irregular pattern characterized by a progressive increase in the depth and at times frequency of respiration with a crescendo-decrescendo shape that eventually culminates in an apneic phase; seen in CHF but also in meningitis - CVA - pontine damage.
200 - Sly’s syndrome is mucopolysaccharidosis (VII) - from beta-glucoronidase deficiency - resulting in hepatosplenomegaly - physical deformity from defect in degradation of dermatan sulfate and heparan sulfate.
Wednesday, February 13, 2008
71 - eponyms in medicine - part 3
101 - Kleihauer-Betke test is testing for the presence of fetal blood cells in maternal circulation .
102 - Van Wyk-Grumbach syndrome is primary hypothyroidism associated with precocious puberty and galactorrhea.
103 - Riley-Day syndrome is hereditary sensory and autonomic neuropathy type III (familial dysautonomia) - recessive disorder that commences in infancy and is characterized by conspicuous autonomic dysfunction (absent tearing - labile temperature - and blood pressure) - and accompanied by absent taste sensation - absent fungiform papillae on tongue - impaired pain and temperature sensation - and areflexia; occurs among Ashkenazi; associated with mutation in IKBKAP gene.
104 - pink disease is acrodynia - occurs from exposure to high concentrations of mercury vapor - characterized by a body rash - swelling and irritation of palms and feet followed by skin desquamation - irritability - photophobia - fever - insomnia and profuse sweating - which may also follow oral exposure to mercury compounds.
105 - Amadori product is products of early non enzymatic glycoslyation of proteins.
106 - Marshall-Smith syndrome is accelerated skeletal maturation - failure to thrive - and dysmorphic facial features with death in early infancy or childhood from pulmonary infections.
107 - Lowe’s syndrome is X-linked - oculocerebrorenal syndrome characterized by congenital cataracts - mental retardation - renal tubular acidosis type 2; from defect in lipid phosphatase - phosphatidylinositol 4 -5 bisphosphate [PtdIns(4 -5)P2]5-phosphatase - which localizes to the Golgi apparatus and is suspected to play a role in Golgi vesicular transport.
108 - hemoglobin Lepore is no beta chain; delta chain by delta-beta hybrid.
109 - gamekeeper’s thumb is injury to ulnar collateral ligament of the thumb.
110 - Batten’s disease is later-onset ceroid lipofuscinosis - CLN3 - also used to describe juvenile form specifically; in general a group of conditions characterized by mental impairment - worsening seizures - and progressive loss of sight and motor skills related to buildup of lipopigments.
111 - Bishop’s score is scoring system for determining whether or not induction of labor will be successful - based on 5 criteria (scored from 0-3): position - cervical consistency - degree of effacement - dilatation - and station; score >9 suggests that induction will be successful.
112 - Gerstmann syndrome is finger agnosia - agraphia - right-left disorientation - and dyscalculia.
113 - Milkman’s fractures is in osteomalacia - radiolucent narrow lines that lie either at right angles or obliquely to the cortical outlines of bones and often transect them; bilateral and symmetric - found at the axillary margins of the scapula - lower ribs - neck of the proximal femurs - and posterior regions of the proximal ulnas; related either to stress fractures or to mechanical erosion by penetrating nutrient arteries; aka Looser’s zones.
114 - hemoglobin Constant Spring is particularly common structural variant with alpha thalassemia in Asia - contains mutation which abolishes normal translation termination codon - so extra 31 residues read until another in-frame termination codon comees up.
115 - Stockholm syndrome is victims sympathizing with victimizer - e.g. - kidnapper; described after incident in summer of 1973 in Stockholm where hostages were taken in a failed bank robbery and after end of their captivity in six days - the hostages resisted rescue.
116 - Kegel exercises is exercises for strengthening pelvic muscles in order to increase urethral closure mechanism in urinary incontinence.
117 - Charcot-Marie-Tooth disease is most common inherited peripheral neuropathy - 1/2500 - autosomal dominant - clinically heterogeneous disorder characterized by slowly progressive atrophy of the distal muscles - mainly those innervated by peroneal nerve; progressive weakness of varying intensity and atrophy of the muscles of the feet - hands - and legs - leading to pes cavus - clawhand - and stork-leg appearance - usually beginning in the 2nd or 3rd decade. Enlarged greater auricular nerves may be visible and enlarged ulnar and peroneal nerves may be palpated in some patients. Cranial nerves rarely involved.
118 - Spigelian hernia is hernia through the linea semilunaris - aka spontaneous lateral ventral hernia.
119 - Vater - ampulla is location where common bile duct enters the duodenum; described by German anatomist Vater (1684-1751).
120 - Von Graefe sign is in Graves’s disease - lag of the upper eyelid as it follows the rotation of the eyeball downward.
121 - Waldenström’s macroglobulinemia is marked by diffuse - leukemia-like infiltration of the bone marrow by lymphocytes - plasma cells - and hybrid forms that synthesize a monoclonal IgM - leading to macroglobulinemia; disease of old age - macroglubilinemia giving rise to visual impairment - neurologic problems - bleeding - cryoglobulinemia; hyperviscosity.
122 - St. Vitus’s dance is Sydenham’s chorea.
123 - Bing’s sign is extensor plantar response by pricking the dorsal surface of the big toe with a pin suggesting upper motor neuron defect.
124 - Thorel’s pathway is posterior internodal tract in atrial conduction system.
125 - Parkland formula is total body surface area % burned x kg x 4; 1/2 in first 8 hours - second 1/2 given next 16 hours.
126 - Millard-Gubler syndrome is ventral pontine injury causing symptoms similar to Fouville’s syndrome except lateral rectus weakness only - instead of gaze palsy.
127 - Mazzotti reaction is reaction to proteins released by dying onchocerca - including fevers - rashes - ocular damage - joint and muscle pain - and lymphangitis as well as hypotension - pyrexia - respiratory distress - and prostration.
128 - Werner’s syndrome is a form of progeria characterized by scleroderma-like skin changes (especially in extremities) - bilateral juvenile cataracts - subcutaneous calcifications - wizened and prematurely-aged facies - hypogonadism - and diabetes mellitus; autosomal recessive inheritance; from mutation in RecQ helicase.
129 - fetor hepaticus is “musty” or “sweet odor” from the formation of mercaptans by the action of GI bacteria on the sulfur-containing amino acid methionine and shunting of splanchnic blood from the portal into the system circulation (portosystemic shunting).
130 - Lynch syndrome I is cancer family syndrome with multiple colon cancers 2 to 3 decades earlier - predilection for proximal colon; Lynch syndromes most common forms of familial colon cancer - 5-10% of all cases of colon cancer; better prognosis than sporadic colon cancer; deficiency in mismatch repair genes in 85% of Lynch syndromes; autosomal dominant.
131 - Prehn's sign is elevation of painful testicle decreases pain of epididymitis.
132 - Ramirez sign is in deep vein thrombosis - sphygmomanometer cuff placed above knee inflated to 40 mm Hg causing pain at site of thrombosis.
133 - second disease is scarlet fever - aka scarlatina - caused by Strep pyogenes exotoxin - first described in 1626.
134 - Burkitt lymphoma is tumor manifesting at extranodal sites; associated with translocation of c-myc gene on chr 8 with IgH locus (chr 14) - kappa (chr 2) - or lambda light-chain (chr 22) locus; associated with EBV infection in African variety.
135 - Gordon’s maneuver is extensor plant response by squeezing the calf muscle suggesting upper motor neuron defect.
136 - Jones’s fracture is fracture at the base of the fifth metatarsal diaphysis.
137 - Hughes-Stovin syndrome is multiple pulmonary artery aneurysms with peripheral venous thrombosis.
138 - Siegrist streaks is linear hyperpigmented areas over choroidal vessels in hypertensive retinopathy.
139 - Blomstrand dysplasia is rare lethal disorder characterized by an increase in bone density and advanced skeletal maturationfrom inactivating mutation in PTHR-1 gene (also Jansen metaphyseal chondrodysplasia where there is an activating mutation).
140 - MELAS is mitochondrial encephalopathy with acidosis and stroke - onset in childhood - stroke-like episodes with hemiparesis - hemianopia - or cortical blindness; full expression of the disease leads to death often before age 20; 80-90% have point mutation in leucine tRNA in mtDNA.
141 - Hampton’s line is radiolucent collar of granulation tissue across the base of an ulcer.
142 - Clerambault’s syndrome is erotomania - delusional belief that someone (usually of higher social status) is in love with the person.
143 - Tolosa-Hunt syndrome is idiopathic inflammation of the cavernous sinus producing painful palsy of third - fourth - or sixth cranial nerve.
144 - Lundberg A wave is in ICP monitoring - waves that have a duration of 5-20 minutes and an amplitude of 50 mm Hg over the baseline ICP - after which ICP is reset to a higher baseline level; sign of severely compromised intracranial compliance and can result in significant decrease in cerebral perfusion pressure and herniation.
145 - Denver shunt is for treating refractory ascites - peritoneovenous shunt connecting peritoneum and central venous system - compare with LeVeen shunt; Denver shunt uses valve that lies within a fluid-filled - compressible silicone chamber.
146 - Dorello’s canal is location where the sixth nerve penetrates the dura - an area where the nerve is liable to injury.
147 - Hageman factor is factor XII.
148 - Reynold’s pentad is Charcot’s triad plus altered mental status and shock in cholangitis.
149 - Morton’s neuroma is interdigitial palmar neuroma.
150 - Castle intrinsic factor is intrinsic factor secreted by parietal cells - which binds luminal B12 and permits its absorption in the ileum.
102 - Van Wyk-Grumbach syndrome is primary hypothyroidism associated with precocious puberty and galactorrhea.
103 - Riley-Day syndrome is hereditary sensory and autonomic neuropathy type III (familial dysautonomia) - recessive disorder that commences in infancy and is characterized by conspicuous autonomic dysfunction (absent tearing - labile temperature - and blood pressure) - and accompanied by absent taste sensation - absent fungiform papillae on tongue - impaired pain and temperature sensation - and areflexia; occurs among Ashkenazi; associated with mutation in IKBKAP gene.
104 - pink disease is acrodynia - occurs from exposure to high concentrations of mercury vapor - characterized by a body rash - swelling and irritation of palms and feet followed by skin desquamation - irritability - photophobia - fever - insomnia and profuse sweating - which may also follow oral exposure to mercury compounds.
105 - Amadori product is products of early non enzymatic glycoslyation of proteins.
106 - Marshall-Smith syndrome is accelerated skeletal maturation - failure to thrive - and dysmorphic facial features with death in early infancy or childhood from pulmonary infections.
107 - Lowe’s syndrome is X-linked - oculocerebrorenal syndrome characterized by congenital cataracts - mental retardation - renal tubular acidosis type 2; from defect in lipid phosphatase - phosphatidylinositol 4 -5 bisphosphate [PtdIns(4 -5)P2]5-phosphatase - which localizes to the Golgi apparatus and is suspected to play a role in Golgi vesicular transport.
108 - hemoglobin Lepore is no beta chain; delta chain by delta-beta hybrid.
109 - gamekeeper’s thumb is injury to ulnar collateral ligament of the thumb.
110 - Batten’s disease is later-onset ceroid lipofuscinosis - CLN3 - also used to describe juvenile form specifically; in general a group of conditions characterized by mental impairment - worsening seizures - and progressive loss of sight and motor skills related to buildup of lipopigments.
111 - Bishop’s score is scoring system for determining whether or not induction of labor will be successful - based on 5 criteria (scored from 0-3): position - cervical consistency - degree of effacement - dilatation - and station; score >9 suggests that induction will be successful.
112 - Gerstmann syndrome is finger agnosia - agraphia - right-left disorientation - and dyscalculia.
113 - Milkman’s fractures is in osteomalacia - radiolucent narrow lines that lie either at right angles or obliquely to the cortical outlines of bones and often transect them; bilateral and symmetric - found at the axillary margins of the scapula - lower ribs - neck of the proximal femurs - and posterior regions of the proximal ulnas; related either to stress fractures or to mechanical erosion by penetrating nutrient arteries; aka Looser’s zones.
114 - hemoglobin Constant Spring is particularly common structural variant with alpha thalassemia in Asia - contains mutation which abolishes normal translation termination codon - so extra 31 residues read until another in-frame termination codon comees up.
115 - Stockholm syndrome is victims sympathizing with victimizer - e.g. - kidnapper; described after incident in summer of 1973 in Stockholm where hostages were taken in a failed bank robbery and after end of their captivity in six days - the hostages resisted rescue.
116 - Kegel exercises is exercises for strengthening pelvic muscles in order to increase urethral closure mechanism in urinary incontinence.
117 - Charcot-Marie-Tooth disease is most common inherited peripheral neuropathy - 1/2500 - autosomal dominant - clinically heterogeneous disorder characterized by slowly progressive atrophy of the distal muscles - mainly those innervated by peroneal nerve; progressive weakness of varying intensity and atrophy of the muscles of the feet - hands - and legs - leading to pes cavus - clawhand - and stork-leg appearance - usually beginning in the 2nd or 3rd decade. Enlarged greater auricular nerves may be visible and enlarged ulnar and peroneal nerves may be palpated in some patients. Cranial nerves rarely involved.
118 - Spigelian hernia is hernia through the linea semilunaris - aka spontaneous lateral ventral hernia.
119 - Vater - ampulla is location where common bile duct enters the duodenum; described by German anatomist Vater (1684-1751).
120 - Von Graefe sign is in Graves’s disease - lag of the upper eyelid as it follows the rotation of the eyeball downward.
121 - Waldenström’s macroglobulinemia is marked by diffuse - leukemia-like infiltration of the bone marrow by lymphocytes - plasma cells - and hybrid forms that synthesize a monoclonal IgM - leading to macroglobulinemia; disease of old age - macroglubilinemia giving rise to visual impairment - neurologic problems - bleeding - cryoglobulinemia; hyperviscosity.
122 - St. Vitus’s dance is Sydenham’s chorea.
123 - Bing’s sign is extensor plantar response by pricking the dorsal surface of the big toe with a pin suggesting upper motor neuron defect.
124 - Thorel’s pathway is posterior internodal tract in atrial conduction system.
125 - Parkland formula is total body surface area % burned x kg x 4; 1/2 in first 8 hours - second 1/2 given next 16 hours.
126 - Millard-Gubler syndrome is ventral pontine injury causing symptoms similar to Fouville’s syndrome except lateral rectus weakness only - instead of gaze palsy.
127 - Mazzotti reaction is reaction to proteins released by dying onchocerca - including fevers - rashes - ocular damage - joint and muscle pain - and lymphangitis as well as hypotension - pyrexia - respiratory distress - and prostration.
128 - Werner’s syndrome is a form of progeria characterized by scleroderma-like skin changes (especially in extremities) - bilateral juvenile cataracts - subcutaneous calcifications - wizened and prematurely-aged facies - hypogonadism - and diabetes mellitus; autosomal recessive inheritance; from mutation in RecQ helicase.
129 - fetor hepaticus is “musty” or “sweet odor” from the formation of mercaptans by the action of GI bacteria on the sulfur-containing amino acid methionine and shunting of splanchnic blood from the portal into the system circulation (portosystemic shunting).
130 - Lynch syndrome I is cancer family syndrome with multiple colon cancers 2 to 3 decades earlier - predilection for proximal colon; Lynch syndromes most common forms of familial colon cancer - 5-10% of all cases of colon cancer; better prognosis than sporadic colon cancer; deficiency in mismatch repair genes in 85% of Lynch syndromes; autosomal dominant.
131 - Prehn's sign is elevation of painful testicle decreases pain of epididymitis.
132 - Ramirez sign is in deep vein thrombosis - sphygmomanometer cuff placed above knee inflated to 40 mm Hg causing pain at site of thrombosis.
133 - second disease is scarlet fever - aka scarlatina - caused by Strep pyogenes exotoxin - first described in 1626.
134 - Burkitt lymphoma is tumor manifesting at extranodal sites; associated with translocation of c-myc gene on chr 8 with IgH locus (chr 14) - kappa (chr 2) - or lambda light-chain (chr 22) locus; associated with EBV infection in African variety.
135 - Gordon’s maneuver is extensor plant response by squeezing the calf muscle suggesting upper motor neuron defect.
136 - Jones’s fracture is fracture at the base of the fifth metatarsal diaphysis.
137 - Hughes-Stovin syndrome is multiple pulmonary artery aneurysms with peripheral venous thrombosis.
138 - Siegrist streaks is linear hyperpigmented areas over choroidal vessels in hypertensive retinopathy.
139 - Blomstrand dysplasia is rare lethal disorder characterized by an increase in bone density and advanced skeletal maturationfrom inactivating mutation in PTHR-1 gene (also Jansen metaphyseal chondrodysplasia where there is an activating mutation).
140 - MELAS is mitochondrial encephalopathy with acidosis and stroke - onset in childhood - stroke-like episodes with hemiparesis - hemianopia - or cortical blindness; full expression of the disease leads to death often before age 20; 80-90% have point mutation in leucine tRNA in mtDNA.
141 - Hampton’s line is radiolucent collar of granulation tissue across the base of an ulcer.
142 - Clerambault’s syndrome is erotomania - delusional belief that someone (usually of higher social status) is in love with the person.
143 - Tolosa-Hunt syndrome is idiopathic inflammation of the cavernous sinus producing painful palsy of third - fourth - or sixth cranial nerve.
144 - Lundberg A wave is in ICP monitoring - waves that have a duration of 5-20 minutes and an amplitude of 50 mm Hg over the baseline ICP - after which ICP is reset to a higher baseline level; sign of severely compromised intracranial compliance and can result in significant decrease in cerebral perfusion pressure and herniation.
145 - Denver shunt is for treating refractory ascites - peritoneovenous shunt connecting peritoneum and central venous system - compare with LeVeen shunt; Denver shunt uses valve that lies within a fluid-filled - compressible silicone chamber.
146 - Dorello’s canal is location where the sixth nerve penetrates the dura - an area where the nerve is liable to injury.
147 - Hageman factor is factor XII.
148 - Reynold’s pentad is Charcot’s triad plus altered mental status and shock in cholangitis.
149 - Morton’s neuroma is interdigitial palmar neuroma.
150 - Castle intrinsic factor is intrinsic factor secreted by parietal cells - which binds luminal B12 and permits its absorption in the ileum.
70 - eponyms in medicine - part 2
51 - Marshall - vein of is oblique vein of left atrium.
52 - Cushing’s disease is hypercortisolism from pituitary corticotropin-(ACTH)-secreting corticotroph tumors - almost always benign and usually microadenomas.
53 - Bezold-Jarisch reflex is activation of receptors in the atria - great veins - and left ventricle causing increased parasympathetic tone and decreased sympathetic activity leading to a combination of hypotension and bradycardia with a sudden increase in coronary flow.
54 - Simon focus is in tuberculosis - nodule in subapical region which develops from hematogenous spread from initial infection in lower half of lung.
55 - Bell’s palsy is seventh nerve palsy; seen as a complication in diabetes - tumors - sarcoidosis - AIDS - and Lyme disease.
56 - Syme’s amputation is amputation at the ankle with removal of the malleoli and placement of the heel pad over the end of the remaining tibia; devised in 1842.
57 - Billroth’s cords is splenic cords found in the red pulp between the sinusoids - consisting mainly of fibrils and connective tissue cells.
58 - Louvel’s sign is in deep vein thrombosis - venous pain induced by coughing - prevented by pressing over proximal end of vein.
59 - Von Willebrand’s disease is deficiency in von Willebrand factor; frequency of 1% - most common inherited disorder of bleeding; type 1 and 3 reduced quantity of vWF; type 2 qualitative defects in vWF.
60 - Kussmaul’s respiration is hyperpnea - associated with acidosis - especially DKA but also in uremia.
61 - Berardinelli-Seip syndrome is congenital generalized lipodystrophy - apparent at birth - infants look very muscular due to absence of fat - associated with diabetes - hepatomegaly - acanthosis nigricans - enlarged external genitalia - and increased rate of skeletal growth.
62 - Kussmaul’s sign is jugular vein distension during inspiration (reversal of normal pattern of decreasing jugular venous pressure during inspiration); classically seen in constrictive pericarditis because of normal increase in venous return with increased abdominal pressure from diaphragmatic contraction leading to increase in right atrial pressure from non-complaint right ventricle - though most common contemporary cause is severe right-sided heart failure (JAMA 1996: 275:632); generally negative in cardiac tamponade.
63 - Nijmegen breakage syndrome is primary immunodeficiency autosomal recessive disorder that presents as microcephaly - a distinctive “bird-like” facies - growth retardation - recurrent pulmonary infections - chromosomal instability - radiation hypersensitivity - and increased incidence of malignancies - especially lymphomas from mutation in nibrin protein - a protein involved in DNA repair; cellular defect similar to ataxia-telangiectasia.
64 - Dobrin’s syndrome is TINU syndrome (tubulointerstitial nephritis with uveitis) - associated with bone marrow granulomas - first described in 1975.
65 - Westermark’s sign is in chest film - an abrupt tapering of a vessel caused by pulmonary embolism - focal oligemia.
66 - Jod-Basedow phenomenon is thyroid hyperfunction induced by excess iodine ingestion in patients with various thyroid disorders; Jod German for iodine; K. A. Von Basedow.
67 - Toldt - white lines of is the peritoneal reflections of the ascending and descending colon.
68 - Möbius syndrome is congenital facial paralysis with or without limb defects associated with maternal misoprostol use.
69 - Landolfi’s sign is in aortic regurgitation - systolic contraction and diastolic dilation of the pupil.
70 - Rasmussen’s encephalitis is progressive childhood disease characterized by severe epilepsy - hemiplegia - dementia - and inflammation of the brain potentially from autoantibodies to GluR3 antigen.
71 - La Crosse encephalitis is transmitted by tree hole mosquito - Aedes trisereiatus and causes most common arboviral infection in children in N. America; hyponatremia and fever associated with worse outcome.
72 - Carney syndrome (or triad) is nonfamilial disorder the includes combination of three rare tumors: gastric leiomyosarcoma - pulmonary chondroma - extraadrenal paraganglioma but no cardiac manifestations; unrelated to Carney complex.
73 - Keutel syndrome is malformation syndrome characterized by multiple pulmonary stenoses - neural hearing loss - short terminal phalanges - and calcifications and/or ossification of the cartilage in ears - nose larynx - trachea - and ribs; due to mutation in gene encoding human matrix Gla protein.
74 - Watson-Schwartz reaction is screening test for porphobilinogen (elevated for example in acute intermittent porphyria); mixing 4-dimethylaminobenzaldehyde with urine and then extract with chloroform; porphobilinogen extracts into upper aqueous layer giving it a pink color and urobilinogen extracts into chloroform layer; 50% positive at urinary concentration 5x upper limit of normal and consistently positive 10-20x upper limit of normal.
75 - Stuart factor is factor X.
76 - Pulfrich phenomenon is misperception of trajectory of moving objects (an optical illusion that can be elicited in normal subjects) - can be associated with optic neuritis.
77 - May-Thurner syndromne is iliofemoral deep vein thrombosis from impaired venous return because of compression of the left common iliac vein by overlying right common iliac artery.
78 - Bergmann gliosis is in ethanol abuse - proliferation of astrocytes adjacent to lost Purkinje cells between depleted granular cell and molecular layer of cerebellum.
79 - Preiser disease is spontaneous - non-traumatic osteonecrosis of the scaphoid bone.
80 - Winter’s formula is gives expected pCO2 (respiratory compensation) in uncomplicated metabolic acidosis; expected CO2=[HCO3]*1.54 + 8.36.
81 - Ruffini’s corpuscles is sensory receptors for heat.
82 - Corrigan’s pulse is in aortic regurgitation - pulses are of the water-hammer or collapsing type with abrupt distension and quick collapse - can be exaggerated by raising the patient’s arm.
83 - Jolly test is in myasthenia gravis - a sequence of repetitive nerve stimulation (RNS) studies specifically designed to look for neuromuscular junction disease. A positive test is a >10% decremental response with 3 Hz repetitive stimulation - 50-80% sensitive. After Friedrich Jolly - German neurologist - 1844-1904.
84 - Kocher’s test is compression of lateral lobes of thyroid causing stridor; associated with thyroid carcinoma - goiter - or thyroiditis.
85 - Lieberkühn - crypts of is intestinal glands found between villi.
86 - Werdnig-Hoffman syndrome is spinal muscular atrophy type I - autosomal recessive lower motor neuron disease - survival motor neuron protein affected (linked to 5q11.2-13.3) - presents between birth and 6 months of age - death before 2 y.o.
87 - Blau’s syndrome is granulomatous synovitis - non granulomatous uveitis - cranial neuropathies; resembles childhood sarcoidosis; no lung involvement; associated with mutations in NOD2/CARD15 gene; first described in 1985.
88 - Conradi-Hunermann syndrome is chondrodysplasia punctata - characterized by stippled epiphyses from abnormal accumulation of calcium salts and skeletal changes.
89 - Biette’s collarette is in syphilis - a thin white ring of scales on the surface of a lesion.
90 - Marjolin's ulcer is squamous cell carcinoma ulceration overlying chronic osteomyelitis or burn scar.
91 - Wilson’s disease is hepatolenticular degeneration due to mutation in gene involved in incorporation of copper into ceruloplasmin and excretion of copper into bile; Kayser-Fleischer ring; gene on chr 13 - cation transporting P-type ATPase; incidence 1:200 -000 - diagnosis based on decrease in serum ceruloplasmin - increased urinary excretion of copper - increase in hepatic copper content; 40% have neurologic findings (Parkinson’s - psychosis) and subclinical liver.
92 - Wolman disease is lysosomal acid lipase deficiency hydrolysis of cholesteryl esters and triglycerides in the lysosome leading to mild mental retardation - hepatomegaly - adrenal calcification - fatal in infancy with inanition - malabsorption - and intractable diarrhea.
93 - Turner’s syndrome is females with XO - short - low-set ears - shield chest - congenital heart defect (usually coarctation) - café-au-lait spots - freckles - webbed neck - lymphedema.
94 - Wada test is test for hemispheric dominance for language by injecting amobarbital into carotid artery.
95 - Wallerian degeneration is pattern of degeneration of distal portion of nerve following axonal injury with break down of axon and formation of myelin ovoids from catabolized axon fragments.
96 - Hitzig zones is in tabes dorsalis (syphilis) - regions of reduced sensation found in central face - nipples - ulnar forearms - and peroneal legs - leading to painless ulcers and joint damage.
97 - Blumberg sign is rebound tenderness.
98 - Frank’s sign is earlobe crease - associated with CAD (N Engl J Med. 1973;289:327-8).
99 - Gorham-Stout disease is vanishing or disappearing bone disease; IL-6 has pathogenetic role.
100 - Holme’s heart is single ventricle with normally-related great arteries.
52 - Cushing’s disease is hypercortisolism from pituitary corticotropin-(ACTH)-secreting corticotroph tumors - almost always benign and usually microadenomas.
53 - Bezold-Jarisch reflex is activation of receptors in the atria - great veins - and left ventricle causing increased parasympathetic tone and decreased sympathetic activity leading to a combination of hypotension and bradycardia with a sudden increase in coronary flow.
54 - Simon focus is in tuberculosis - nodule in subapical region which develops from hematogenous spread from initial infection in lower half of lung.
55 - Bell’s palsy is seventh nerve palsy; seen as a complication in diabetes - tumors - sarcoidosis - AIDS - and Lyme disease.
56 - Syme’s amputation is amputation at the ankle with removal of the malleoli and placement of the heel pad over the end of the remaining tibia; devised in 1842.
57 - Billroth’s cords is splenic cords found in the red pulp between the sinusoids - consisting mainly of fibrils and connective tissue cells.
58 - Louvel’s sign is in deep vein thrombosis - venous pain induced by coughing - prevented by pressing over proximal end of vein.
59 - Von Willebrand’s disease is deficiency in von Willebrand factor; frequency of 1% - most common inherited disorder of bleeding; type 1 and 3 reduced quantity of vWF; type 2 qualitative defects in vWF.
60 - Kussmaul’s respiration is hyperpnea - associated with acidosis - especially DKA but also in uremia.
61 - Berardinelli-Seip syndrome is congenital generalized lipodystrophy - apparent at birth - infants look very muscular due to absence of fat - associated with diabetes - hepatomegaly - acanthosis nigricans - enlarged external genitalia - and increased rate of skeletal growth.
62 - Kussmaul’s sign is jugular vein distension during inspiration (reversal of normal pattern of decreasing jugular venous pressure during inspiration); classically seen in constrictive pericarditis because of normal increase in venous return with increased abdominal pressure from diaphragmatic contraction leading to increase in right atrial pressure from non-complaint right ventricle - though most common contemporary cause is severe right-sided heart failure (JAMA 1996: 275:632); generally negative in cardiac tamponade.
63 - Nijmegen breakage syndrome is primary immunodeficiency autosomal recessive disorder that presents as microcephaly - a distinctive “bird-like” facies - growth retardation - recurrent pulmonary infections - chromosomal instability - radiation hypersensitivity - and increased incidence of malignancies - especially lymphomas from mutation in nibrin protein - a protein involved in DNA repair; cellular defect similar to ataxia-telangiectasia.
64 - Dobrin’s syndrome is TINU syndrome (tubulointerstitial nephritis with uveitis) - associated with bone marrow granulomas - first described in 1975.
65 - Westermark’s sign is in chest film - an abrupt tapering of a vessel caused by pulmonary embolism - focal oligemia.
66 - Jod-Basedow phenomenon is thyroid hyperfunction induced by excess iodine ingestion in patients with various thyroid disorders; Jod German for iodine; K. A. Von Basedow.
67 - Toldt - white lines of is the peritoneal reflections of the ascending and descending colon.
68 - Möbius syndrome is congenital facial paralysis with or without limb defects associated with maternal misoprostol use.
69 - Landolfi’s sign is in aortic regurgitation - systolic contraction and diastolic dilation of the pupil.
70 - Rasmussen’s encephalitis is progressive childhood disease characterized by severe epilepsy - hemiplegia - dementia - and inflammation of the brain potentially from autoantibodies to GluR3 antigen.
71 - La Crosse encephalitis is transmitted by tree hole mosquito - Aedes trisereiatus and causes most common arboviral infection in children in N. America; hyponatremia and fever associated with worse outcome.
72 - Carney syndrome (or triad) is nonfamilial disorder the includes combination of three rare tumors: gastric leiomyosarcoma - pulmonary chondroma - extraadrenal paraganglioma but no cardiac manifestations; unrelated to Carney complex.
73 - Keutel syndrome is malformation syndrome characterized by multiple pulmonary stenoses - neural hearing loss - short terminal phalanges - and calcifications and/or ossification of the cartilage in ears - nose larynx - trachea - and ribs; due to mutation in gene encoding human matrix Gla protein.
74 - Watson-Schwartz reaction is screening test for porphobilinogen (elevated for example in acute intermittent porphyria); mixing 4-dimethylaminobenzaldehyde with urine and then extract with chloroform; porphobilinogen extracts into upper aqueous layer giving it a pink color and urobilinogen extracts into chloroform layer; 50% positive at urinary concentration 5x upper limit of normal and consistently positive 10-20x upper limit of normal.
75 - Stuart factor is factor X.
76 - Pulfrich phenomenon is misperception of trajectory of moving objects (an optical illusion that can be elicited in normal subjects) - can be associated with optic neuritis.
77 - May-Thurner syndromne is iliofemoral deep vein thrombosis from impaired venous return because of compression of the left common iliac vein by overlying right common iliac artery.
78 - Bergmann gliosis is in ethanol abuse - proliferation of astrocytes adjacent to lost Purkinje cells between depleted granular cell and molecular layer of cerebellum.
79 - Preiser disease is spontaneous - non-traumatic osteonecrosis of the scaphoid bone.
80 - Winter’s formula is gives expected pCO2 (respiratory compensation) in uncomplicated metabolic acidosis; expected CO2=[HCO3]*1.54 + 8.36.
81 - Ruffini’s corpuscles is sensory receptors for heat.
82 - Corrigan’s pulse is in aortic regurgitation - pulses are of the water-hammer or collapsing type with abrupt distension and quick collapse - can be exaggerated by raising the patient’s arm.
83 - Jolly test is in myasthenia gravis - a sequence of repetitive nerve stimulation (RNS) studies specifically designed to look for neuromuscular junction disease. A positive test is a >10% decremental response with 3 Hz repetitive stimulation - 50-80% sensitive. After Friedrich Jolly - German neurologist - 1844-1904.
84 - Kocher’s test is compression of lateral lobes of thyroid causing stridor; associated with thyroid carcinoma - goiter - or thyroiditis.
85 - Lieberkühn - crypts of is intestinal glands found between villi.
86 - Werdnig-Hoffman syndrome is spinal muscular atrophy type I - autosomal recessive lower motor neuron disease - survival motor neuron protein affected (linked to 5q11.2-13.3) - presents between birth and 6 months of age - death before 2 y.o.
87 - Blau’s syndrome is granulomatous synovitis - non granulomatous uveitis - cranial neuropathies; resembles childhood sarcoidosis; no lung involvement; associated with mutations in NOD2/CARD15 gene; first described in 1985.
88 - Conradi-Hunermann syndrome is chondrodysplasia punctata - characterized by stippled epiphyses from abnormal accumulation of calcium salts and skeletal changes.
89 - Biette’s collarette is in syphilis - a thin white ring of scales on the surface of a lesion.
90 - Marjolin's ulcer is squamous cell carcinoma ulceration overlying chronic osteomyelitis or burn scar.
91 - Wilson’s disease is hepatolenticular degeneration due to mutation in gene involved in incorporation of copper into ceruloplasmin and excretion of copper into bile; Kayser-Fleischer ring; gene on chr 13 - cation transporting P-type ATPase; incidence 1:200 -000 - diagnosis based on decrease in serum ceruloplasmin - increased urinary excretion of copper - increase in hepatic copper content; 40% have neurologic findings (Parkinson’s - psychosis) and subclinical liver.
92 - Wolman disease is lysosomal acid lipase deficiency hydrolysis of cholesteryl esters and triglycerides in the lysosome leading to mild mental retardation - hepatomegaly - adrenal calcification - fatal in infancy with inanition - malabsorption - and intractable diarrhea.
93 - Turner’s syndrome is females with XO - short - low-set ears - shield chest - congenital heart defect (usually coarctation) - café-au-lait spots - freckles - webbed neck - lymphedema.
94 - Wada test is test for hemispheric dominance for language by injecting amobarbital into carotid artery.
95 - Wallerian degeneration is pattern of degeneration of distal portion of nerve following axonal injury with break down of axon and formation of myelin ovoids from catabolized axon fragments.
96 - Hitzig zones is in tabes dorsalis (syphilis) - regions of reduced sensation found in central face - nipples - ulnar forearms - and peroneal legs - leading to painless ulcers and joint damage.
97 - Blumberg sign is rebound tenderness.
98 - Frank’s sign is earlobe crease - associated with CAD (N Engl J Med. 1973;289:327-8).
99 - Gorham-Stout disease is vanishing or disappearing bone disease; IL-6 has pathogenetic role.
100 - Holme’s heart is single ventricle with normally-related great arteries.
69 - prothrombin time ( PT ) - INR ( international normalised ratio )
Alternative Names
PT; Pro-time or international normalised ratio ( INR )Definition
Prothrombin time (PT) is a blood test that measures the time it takes for the liquid portion (plasma) of your blood to clot.
The health care provider uses a needle to take blood from one of your veins. The blood collects into an airtight container. You may be given a bandage to stop any bleeding. If you are taking a medicine called heparin, you will be watched for signs of bleeding.
The laboratory specialist will add chemicals to the blood sample and see how long it takes for the plasma to clot.
Your doctor may tell you to stop taking certain drugs before the test. For example, blood thinners can affect the results of this test.
Do not stop taking any medicine without first talking to your doctor.
When the needle is inserted to draw blood, some people feel moderate pain, while others feel only a prick or stinging sensation. Afterward, there may be some throbbing.
Veins and arteries vary in size from one patient to another and from one side of the body to the other. Obtaining a blood sample from some people may be more difficult than from others.
The PT is a broad screening test for many types of bleeding disorders. Your doctor may order this test if you have signs of a blood clotting disorder.
The normal range is 11 to 13.5 seconds. However, "normal" varies from lab to lab.
The PT time will be longer in persons who take blood thinners.
Increased PT times may be due to:
- Bile duct obstruction
- cirrhosis
- Disseminated intravascular coagulation ( DIC )
- hepatitis
- malabsorption
- vitamin k deficiency
- Coumadin (warfarin) therapy
- Factor VII deficiency
- Factor X deficiency
- Factor II (prothrombin) deficiency
- Factor V deficiency
- Factor I (fibrinogen) deficiency
This test is often done on people who may have bleeding problems. The risks of bleeding and hematoma in these patients are slightly greater than for people without bleeding problems. In general, risks of any blood test may include:
- Excessive bleeding
- Fainting or feeling light-headed
- Hematoma (blood accumulating under the skin)
- Infection (a slight risk any time the skin is broken)
- Multiple punctures to locate veins
When you bleed, the body launches a series of activities that help the blood clot. This is called the coagulation cascade. There are three pathways to this event. The PT test looks at special proteins, called factors, found in one of these pathways. It measures the clotting ability of factors I (fibrinogen), II (prothrombin), V, VII, and X. When any of these factors are lacking, the PT is prolonged.
68 - effects of sympathetic and parasympathetic system on heart and blood vessels
As shown in the following table, activation of sympathetic efferent nerves to the heart increases heart rate (positive chronotropy), contractility (positive ionotrophy), rate of relaxation (increased lusitropy), and conduction velocity (positive dromotropy). Parasympathetic effects are opposite. Parasympathetic effects on inotropy are weak in the ventricle, but relatively strong in the atria. Physiologically, whenever the body activates the sympathetic system, it down regulates parasympathetic activity, and visa versa, so that the activities of these two branches of the autonomic nervous system respond reciprocally.
In blood vessels, sympathetic activation constricts arteries and arterioles (resistance vessels), which increases resistance and decreases distal blood flow. Sympathetic-induced constriction of veins (capacitance vessels) decreases venous compliance and blood volume, and thereby increases venous pressure . Most blood vessels in the body do not have parasympathetic innervation. However, parasympathetic nerves do innervate salivary glands, gastrointestinal glands, and genital erectile tissue where they cause vasodilation.
The overall effect of sympathetic activation is to increase cardiac output, systemic vascular resistance (both arteries and veins), and arterial blood pressure. Enhanced sympathetic activity is particularly important during exercise, emotional stress, and during hemorrhagic shock.
| Sympathetic | Parasympathetic |
Heart |
|
|
| + + + | _ _ _ |
| + + + | _ 1 |
| + + + | _ 1 |
| + + | _ _ _ |
Vessels |
|
|
| + + + | 0 2 |
| + + + | 0 |
Relative magnitude of responses indicated by number of + or - signs. 1 More pronounced in atria than ventricles. 2 Major vasodilator effects only in specific organs such as genitalia
The actions of autonomic nerves are mediated by the release of neurotransmitters that bind to specific cardiac receptors and vascular receptors . These receptors are coupled to signal transduction pathways which evoke changes in cellular function.
67 - bezold jarisch reflex
The Bezold-Jarisch reflex is an eponym for a triad of responses (apnea, bradycardia, and hypotension) following intravenous injection of veratrum alkaloids in experimental animals. The observation was first reported in 1867 by von Bezold and Hirt, and confirmed in 1938-1940 by Jarisch. The triad depends on intact vagi and is mediated through cranial nervous medullary centers controlling respiration, heart rate, and vasomotor tone. The respiratory effects are mediated through pulmonary vagal afferents and the bradycardia and vasodepression through cardiac vagal afferents. The veratrum alkaloids activate all known receptors in the carotid-aortic and cardiopulmonary areas. The cardiopulmonary receptors (baroreceptors, cough receptors, and parenchymal stretch receptors) also respond to other chemical substances: nicotine, capsaicin, venom, antihistaminics, halogenated anesthetics, diguanides, and serotonin (5-hydroxytryptamine). Derivatives of last-mentioned amine activate Type 1, 2, or 3 receptors and have potential therapeutic use. Since several types of cardiopulmonary receptors participate in the Bezold-Jarisch reflex, it has been difficult to develop a blockade to one type of receptor for therapeutic use (cough, bronchospasm, pulmonary hypertension, or coronary vasospasm). Axon reflexes influence pulmonary blood vessels, bronchial blood vessels, and bronchial smooth muscles. These intrapulmonary reflexes need further study as to how they relate to the Bezold-Jarisch reflex in health and disease. The cardiopulmonary and carotid-aortic reflexes can serve as defense mechanisms against chemical hazards that are likely to be inhaled in the workplace and in the environment.
66 - eponyms in medicine - part 1
1 - Lorenzo’s oil is after Lorenzo Odone - diagnosed with adrenoleukodystrophy in 1984 - the triglycerides of monounsaturated oleic acid and erucic acid 4:1 - felt to reduce very long chain fatty acids to normal levels in ALD.
2 - Mayo - veins of is vein overlying pylorus
3 - Hutchinson freckle is lentigo maligna - a nonfamilial precursor to lentigo maligna melanoma
4 - Chadwick’s sign is blue-red passive hyperemia of the cervix that may appear after 7th week of pregnancy; may be seen in association with tumor; results from congestion of mucosa and most visible in anterior vaginal wall.
5 - Cabot ring is in asplenia or malfunctional spleen - nuclear remnants on red blood cells as a thin - darkly-stained ring that follows the margin of the red cell
6 - Epstein-Barr virus is EBV binds to CD21 found on epithelial cells and B cells; however a large number of T suppressor cells and EBV specific cells are seen as atypical lymphocytes
7 - Sugiura procedure is for treating esophageal varices - esophageal and gastric devascularization - esophageal transection
8 - Sneddon-Wilkinson disease is subcorneal pustular dermatosis; rare - chronic - recurrent pustular eruption characterized by subcorneal pustules that contain abundant neutrophils
9 - von Braun-Fernwald’s sign is Piskacek’s sign.
10 - Leydig cell tumors is testicular tumor derived from the stroma - may find Reinke crystals (q.v.)
11 - Guthrie test is for diagnosis of PKU - a bacterial assay for phenylalanine.
12 - Ghon lesion is primary area of tuberculosis infection.
13 - Paneth cells is in small intestine crypts - cells with apically oriented bright eosinophilic granules and which appear to play a role in the mucosal immune system.
14 - Stellwag’s sign is incomplete and infrequent blinking in Graves’s disease.
15 - Virchow’s node is supraclavicular adenopathy associated with a malignancy - often on left side - associated with stomach cancer among other neoplasms but also GI and pelvic malignancies in general. First described by Virchow in 1848 - more cases added by Troisier in 1886; referred to as Troisier’s node in France.
16 - Lynch's syndrome I and II
Associated persons:
Henry T. Lynch
Description:
Lynch syndrome I:
Familial predisposition to colorectal cancer with right-sided predominance. Predominantly early-onset proximal colon carcinomas.
Lynch syndrome II:
Familial predisposition for other primary cancers in addition to the predisposition for colon cancer; site is often female reproductive organs. Predominantly early onset proximal colon carcinoma associated with other extracolonic adenocarcinomas, particularly endometrial carcinoma.
Both disorders are inherited as autosomal dominant traits.
First described 1913 by Alder Scott Warthin, 1867-1931.
Lynch syndrome II is cancer family syndrome - all features of Lynch I with early onset of carcinoma at other sites including endometrium - ovaries - and stomach - also upper tract TCC.
17 - Barraquer-Simons syndrome is acquired partial lipodystrophy; presents usually around 8-10 - preceded generally by an acute viral infection; spares legs and hips; 1/3 of patients develop membranoproliferative glomerulonephritis.
18 - McLeod phenotype is occurs from the absence of the Kx red blood cell antigen; characterized by acanthocytes; compensated hemolytic anemia; decreased Kell system antigens; increased CKMM isoenzymes; and progressive neurologic changes including areflexia - choreiform movements - dysarthria - wasting of muscles - and cardiomyopathy; may be associated with X-linked chronic granulomatous disease.
19 - Monod’s sign is in aspergillomas - radiolucent crescent seen around solitary 3-5 cm lesion on chest X-ray.
20 - TRALI syndrome is Transfusion Related Acute Lung Injury; transfusion reaction occurring within 6 hours after transfusion of blood product - characterized by pulmonary edema; due to anti-granulocyte antibodies in donor’s plasma causing pulmonary sequestration of recipient leukocytes in susceptible patient.
21 - Hering-Breuer reflex is stretch receptor (in smooth muscle of airways) reflex - responsible for apnea - i.e. decreased breathing frequency - as a result of lung inflation.
22 - Ransons’ criteria is for evaluating acute pancreatitis at presentation - age>55; WBC>16 -000; glucose>200; AST>250; LDH>350. during initial 48 hrs - base deficit>4; BUN increase>5; fluid sequestration>6L; Ca <8;>10; pO2<60.>
23 - Weibel-Palade bodies is found only in endothelial cells of vessels larger than capillaries; granules contain von Willebrand’s factor (VIII) and P-selectin.
24 - Dennie’s lines is in atopic dermatitis - an accentuated line or fold below the margin of the lower eyelid.
25 - Guam disease is Guam amyotrophic lateral sclerosis-parkinsonism-dementia linked to a plant excitant neurotoxin found in cycad plant eaten by Chamorro people - toxin believed to be excitotoxin beta-N-methylamino-L-alanine - a low-potency convulsant Science 1987;237:517-22.
26 - Kent - bundle of is AV bypass accessory tract in Wolf-Parkinson-White syndrome that directly connects atrial and ventricular myocardium.
27 - Graham-Little syndrome is end-stage lichen planus of the scalp resulting in scarring alopecia of the scalp.
28 - Van der Woude syndrome is an AD condition in which lip pits are seen in all gene carriers but only some individuals have cleft lips with or without cleft palate owing to variable expressivity.
29 - MacConkey medium is medium for growing nonfastidious Gram-negative rods.
30 - Hegar’s sign is softening of the uterus at the junction between the cervix and the fundus during the first trimester of pregnancy.
31 - Lachman maneuver is for diagnosing ACL tear - pull on tibia in anterior direction with knee flexed at 20-25 degrees (if tibia slides anteriorly >2 mm - positive).
32 - Allen’s sign is in pulmonary embolism - fever - tachycardia - and tachypnea - present in only 23% of cases.
33 - Isaacs’s syndrome is neuromyotonia; continuous muscle stiffness - rippling muscle movements (myokymia) - delayed relaxation following muscle contraction believed to be due to autoantibodies to presynaptic potassium channels.
34 - Stevens-Johnson syndrome is extensive and symptomatic febrile form of erythema multiforme - more common in children; 1-6 cases/million person-years.
35 - Betz cells is large pyramidal cells in layer 5 of primary motor cortex largest neurons in mammalian CNS; 30-40 -000 Betz cells in precentral gyrus in one side of the brain.
36 - Thomsen’s disease is myotonia congenita - autosomal dominant.
37 - Trietz - ligament of is the suspensory muscle of the duodenum which supports the duodenojejunal flexure.
38 - Bier block is regional anesthesia of an extremity by placing a tourniquet and then infusing local anesthetic into a vein.
39 - Trendelenburg position is position where angle of the head of bed or table is inclined at 45 degrees down; used in surgery to push the abdominal organs towards the chest.
40 - Crohn’s disease is transmural mucosal inflammation that may involve the entire GI tract from mouth to the perinanal area that often leads to fibrosis and obstructive clinical presentations; 80% small bowel involvement - usually distal ileum; 1/3 exclusively ileitis; 50% ileocolitis; and 20% disease limited to colon.
41 - Blaschkow - lines of is patterning of a variety of linear nevi as well as linear patterning of commonly acquired diseases such as psoriasis - scleroderma - and lichen planus - including V shape over the upper spine - S shape of the abdomen - inverted U shape from the breast area - and perpendicular lines down lower extremities; cannot be explained by distribution of cutaneous nerve - lines of cleavage - nor blood vessels or lymphatics; first described in 1901.
42 - Tamm-Horsfall protein is uromodulin - major component of renal casts; 30-50 mg secreted per day by cells in thick ascending limb; homologous to GP2 - a protein secreted from the acinar cell and a major component of plugs in noncalcific chronic pancreatitis.
43 - Pringle maneuver is clamping of porta hepatis to control hemorrhage.
44 - Treacher Collins syndrome is first arch syndrome - mandibulofacial dysplasia - caused by autosomal dominant gene - resulting in malar hypoplasia with down-slanting palpebral fissures - defects in the lower eyelids - deformed external ears - and sometimes abnormalities of the middle and internal ears.
45 - Reiter’s syndrome is triad of arthritis - urethritis - and conjunctivitis described by Reiter in 1916 (Nazi sympathizer); 80% possess HLA-B27; associated with Shigella flexneri; ReA develops in 20% of exposed B27+ individuals; subset of reactive arthritis; triad present in 1/3 of patients; incidence estimated as 3.5/100K in males under age of 50; balanitis circinata (penis) and keratoderma blenorrhagica.
46 - Gunther’s disease is AR congenital erythropoietic porphyria from decreased URO synthase activity - hemolytic anemia - cutaneous lesions.
47 - Von Myenburg complexes is close to or within portal tracts - small clusters of modestly dilated bile ducts embedded in a fibrous - sometimes hyalinized stroma; contain inspissated bile concrements and may communicate with the biliary tree; common and usually without clinical significance.
48 - Aicardi syndrome is partial or complete agenesis of corpus callosum - infantile spasms - mental retardation - lacunae of the retina; occurs only in females; likely X-linked dominant with lethality in males; described in 1965.
49 - Lyme disease is inflammatory disease caused by spirochete Borrelia burgdorferi - spread by Ixodes tick - characterized by early local disease with erythema migrans - myalgias - followed by early disseminated disease characterized by carditis - neurologic findings (lymphocytic meningitis - cranial nerve palsies - also Bannwarth’s syndrome) - and late disease characterized by arthralgias and arthritis.
50 - Froment’s sign is diagnosis of ulnar nerve lesion; caused by flexor pollicus longus (median nerve) which comes into action when the patient attempts to grip a flat object between the thumb and the hand - and causes flexion at the interphalangeal joint.
2 - Mayo - veins of is vein overlying pylorus
3 - Hutchinson freckle is lentigo maligna - a nonfamilial precursor to lentigo maligna melanoma
4 - Chadwick’s sign is blue-red passive hyperemia of the cervix that may appear after 7th week of pregnancy; may be seen in association with tumor; results from congestion of mucosa and most visible in anterior vaginal wall.
5 - Cabot ring is in asplenia or malfunctional spleen - nuclear remnants on red blood cells as a thin - darkly-stained ring that follows the margin of the red cell
6 - Epstein-Barr virus is EBV binds to CD21 found on epithelial cells and B cells; however a large number of T suppressor cells and EBV specific cells are seen as atypical lymphocytes
7 - Sugiura procedure is for treating esophageal varices - esophageal and gastric devascularization - esophageal transection
8 - Sneddon-Wilkinson disease is subcorneal pustular dermatosis; rare - chronic - recurrent pustular eruption characterized by subcorneal pustules that contain abundant neutrophils
9 - von Braun-Fernwald’s sign is Piskacek’s sign.
10 - Leydig cell tumors is testicular tumor derived from the stroma - may find Reinke crystals (q.v.)
11 - Guthrie test is for diagnosis of PKU - a bacterial assay for phenylalanine.
12 - Ghon lesion is primary area of tuberculosis infection.
13 - Paneth cells is in small intestine crypts - cells with apically oriented bright eosinophilic granules and which appear to play a role in the mucosal immune system.
14 - Stellwag’s sign is incomplete and infrequent blinking in Graves’s disease.
15 - Virchow’s node is supraclavicular adenopathy associated with a malignancy - often on left side - associated with stomach cancer among other neoplasms but also GI and pelvic malignancies in general. First described by Virchow in 1848 - more cases added by Troisier in 1886; referred to as Troisier’s node in France.
16 - Lynch's syndrome I and II
Associated persons:
Henry T. Lynch
Description:
Lynch syndrome I:
Familial predisposition to colorectal cancer with right-sided predominance. Predominantly early-onset proximal colon carcinomas.
Lynch syndrome II:
Familial predisposition for other primary cancers in addition to the predisposition for colon cancer; site is often female reproductive organs. Predominantly early onset proximal colon carcinoma associated with other extracolonic adenocarcinomas, particularly endometrial carcinoma.
Both disorders are inherited as autosomal dominant traits.
First described 1913 by Alder Scott Warthin, 1867-1931.
Lynch syndrome II is cancer family syndrome - all features of Lynch I with early onset of carcinoma at other sites including endometrium - ovaries - and stomach - also upper tract TCC.
17 - Barraquer-Simons syndrome is acquired partial lipodystrophy; presents usually around 8-10 - preceded generally by an acute viral infection; spares legs and hips; 1/3 of patients develop membranoproliferative glomerulonephritis.
18 - McLeod phenotype is occurs from the absence of the Kx red blood cell antigen; characterized by acanthocytes; compensated hemolytic anemia; decreased Kell system antigens; increased CKMM isoenzymes; and progressive neurologic changes including areflexia - choreiform movements - dysarthria - wasting of muscles - and cardiomyopathy; may be associated with X-linked chronic granulomatous disease.
19 - Monod’s sign is in aspergillomas - radiolucent crescent seen around solitary 3-5 cm lesion on chest X-ray.
20 - TRALI syndrome is Transfusion Related Acute Lung Injury; transfusion reaction occurring within 6 hours after transfusion of blood product - characterized by pulmonary edema; due to anti-granulocyte antibodies in donor’s plasma causing pulmonary sequestration of recipient leukocytes in susceptible patient.
21 - Hering-Breuer reflex is stretch receptor (in smooth muscle of airways) reflex - responsible for apnea - i.e. decreased breathing frequency - as a result of lung inflation.
22 - Ransons’ criteria is for evaluating acute pancreatitis at presentation - age>55; WBC>16 -000; glucose>200; AST>250; LDH>350. during initial 48 hrs - base deficit>4; BUN increase>5; fluid sequestration>6L; Ca <8;>10; pO2<60.>
23 - Weibel-Palade bodies is found only in endothelial cells of vessels larger than capillaries; granules contain von Willebrand’s factor (VIII) and P-selectin.
24 - Dennie’s lines is in atopic dermatitis - an accentuated line or fold below the margin of the lower eyelid.
25 - Guam disease is Guam amyotrophic lateral sclerosis-parkinsonism-dementia linked to a plant excitant neurotoxin found in cycad plant eaten by Chamorro people - toxin believed to be excitotoxin beta-N-methylamino-L-alanine - a low-potency convulsant Science 1987;237:517-22.
26 - Kent - bundle of is AV bypass accessory tract in Wolf-Parkinson-White syndrome that directly connects atrial and ventricular myocardium.
27 - Graham-Little syndrome is end-stage lichen planus of the scalp resulting in scarring alopecia of the scalp.
28 - Van der Woude syndrome is an AD condition in which lip pits are seen in all gene carriers but only some individuals have cleft lips with or without cleft palate owing to variable expressivity.
29 - MacConkey medium is medium for growing nonfastidious Gram-negative rods.
30 - Hegar’s sign is softening of the uterus at the junction between the cervix and the fundus during the first trimester of pregnancy.
31 - Lachman maneuver is for diagnosing ACL tear - pull on tibia in anterior direction with knee flexed at 20-25 degrees (if tibia slides anteriorly >2 mm - positive).
32 - Allen’s sign is in pulmonary embolism - fever - tachycardia - and tachypnea - present in only 23% of cases.
33 - Isaacs’s syndrome is neuromyotonia; continuous muscle stiffness - rippling muscle movements (myokymia) - delayed relaxation following muscle contraction believed to be due to autoantibodies to presynaptic potassium channels.
34 - Stevens-Johnson syndrome is extensive and symptomatic febrile form of erythema multiforme - more common in children; 1-6 cases/million person-years.
35 - Betz cells is large pyramidal cells in layer 5 of primary motor cortex largest neurons in mammalian CNS; 30-40 -000 Betz cells in precentral gyrus in one side of the brain.
36 - Thomsen’s disease is myotonia congenita - autosomal dominant.
37 - Trietz - ligament of is the suspensory muscle of the duodenum which supports the duodenojejunal flexure.
38 - Bier block is regional anesthesia of an extremity by placing a tourniquet and then infusing local anesthetic into a vein.
39 - Trendelenburg position is position where angle of the head of bed or table is inclined at 45 degrees down; used in surgery to push the abdominal organs towards the chest.
40 - Crohn’s disease is transmural mucosal inflammation that may involve the entire GI tract from mouth to the perinanal area that often leads to fibrosis and obstructive clinical presentations; 80% small bowel involvement - usually distal ileum; 1/3 exclusively ileitis; 50% ileocolitis; and 20% disease limited to colon.
41 - Blaschkow - lines of is patterning of a variety of linear nevi as well as linear patterning of commonly acquired diseases such as psoriasis - scleroderma - and lichen planus - including V shape over the upper spine - S shape of the abdomen - inverted U shape from the breast area - and perpendicular lines down lower extremities; cannot be explained by distribution of cutaneous nerve - lines of cleavage - nor blood vessels or lymphatics; first described in 1901.
42 - Tamm-Horsfall protein is uromodulin - major component of renal casts; 30-50 mg secreted per day by cells in thick ascending limb; homologous to GP2 - a protein secreted from the acinar cell and a major component of plugs in noncalcific chronic pancreatitis.
43 - Pringle maneuver is clamping of porta hepatis to control hemorrhage.
44 - Treacher Collins syndrome is first arch syndrome - mandibulofacial dysplasia - caused by autosomal dominant gene - resulting in malar hypoplasia with down-slanting palpebral fissures - defects in the lower eyelids - deformed external ears - and sometimes abnormalities of the middle and internal ears.
45 - Reiter’s syndrome is triad of arthritis - urethritis - and conjunctivitis described by Reiter in 1916 (Nazi sympathizer); 80% possess HLA-B27; associated with Shigella flexneri; ReA develops in 20% of exposed B27+ individuals; subset of reactive arthritis; triad present in 1/3 of patients; incidence estimated as 3.5/100K in males under age of 50; balanitis circinata (penis) and keratoderma blenorrhagica.
46 - Gunther’s disease is AR congenital erythropoietic porphyria from decreased URO synthase activity - hemolytic anemia - cutaneous lesions.
47 - Von Myenburg complexes is close to or within portal tracts - small clusters of modestly dilated bile ducts embedded in a fibrous - sometimes hyalinized stroma; contain inspissated bile concrements and may communicate with the biliary tree; common and usually without clinical significance.
48 - Aicardi syndrome is partial or complete agenesis of corpus callosum - infantile spasms - mental retardation - lacunae of the retina; occurs only in females; likely X-linked dominant with lethality in males; described in 1965.
49 - Lyme disease is inflammatory disease caused by spirochete Borrelia burgdorferi - spread by Ixodes tick - characterized by early local disease with erythema migrans - myalgias - followed by early disseminated disease characterized by carditis - neurologic findings (lymphocytic meningitis - cranial nerve palsies - also Bannwarth’s syndrome) - and late disease characterized by arthralgias and arthritis.
50 - Froment’s sign is diagnosis of ulnar nerve lesion; caused by flexor pollicus longus (median nerve) which comes into action when the patient attempts to grip a flat object between the thumb and the hand - and causes flexion at the interphalangeal joint.
Tuesday, February 12, 2008
65 - lynch syndrome 1 and 2 ( colon cancer )
Lynch's syndrome I and II
Associated persons:
Henry T. Lynch
Description:
Lynch syndrome I:
Familial predisposition to colorectal cancer with right-sided predominance. Predominantly early-onset proximal colon carcinomas.
Lynch syndrome II:
Familial predisposition for other primary cancers in addition to the predisposition for colon cancer; site is often female reproductive organs. Predominantly early onset proximal colon carcinoma associated with other extracolonic adenocarcinomas, particularly endometrial carcinoma.
Both disorders are inherited as autosomal dominant traits.
First described 1913 by Alder Scott Warthin, 1867-1931.
Associated persons:
Henry T. Lynch
Description:
Lynch syndrome I:
Familial predisposition to colorectal cancer with right-sided predominance. Predominantly early-onset proximal colon carcinomas.
Lynch syndrome II:
Familial predisposition for other primary cancers in addition to the predisposition for colon cancer; site is often female reproductive organs. Predominantly early onset proximal colon carcinoma associated with other extracolonic adenocarcinomas, particularly endometrial carcinoma.
Both disorders are inherited as autosomal dominant traits.
First described 1913 by Alder Scott Warthin, 1867-1931.
64 - kehr's sign ( ruptured spleen )
Kehr's sign is the occurrence of acute pain in the tip of the shoulder due to the presence of blood or other irritants in the peritoneal cavity when a person is lying down and the legs are elevated. Kehr's sign in the left shoulder is considered a classical symptom of a ruptured spleen. May result from diaphragmatic or peridiaphragmatic lesions, renal calculi, splenic injury or ectopic pregnancy.
Kehr's sign is a classical example of referred pain : irritation of the diaphragm is signalled by the phrenic nerve as pain in the area above the collar bone .
The discovery of this is often attributed to a German gall bladder surgeon named Hans Kehr , but extensive studies into research he conducted during his life shows inconclusive evidence as to whether or not he actually discovered it.
63 - sneddon-wilkinson disease (Subcorneal pustular dermatosis)
Subcorneal pustular dermatosis
Subcorneal pustular dermatosis is also known as Sneddon-Wilkinson disease. It is a rare condition, characterised by pustules that appear in crops over months or years.
In some cases, subcorneal pustular dermatosis may be later diagnosed as generalised pustular psoriasis ; generalised pustular psorasisis tends to be a more serious condition.
Also known as:
Duhring-Sneddon-Wilkinson syndrome
Sneddon syndrome
Associated persons:
Louis Adolphus Duhring
Ian Bruce Sneddon
Daryl Sheldon Wilkinson
Description:
Chronic recidivating pustulous dermatosis of unknown origin with eruptions usually involving the axillae, groins, abdomen, submammary areas, the flexor aspects of the limbs, and, less commonly, the palms and soles. The course is quite similar to that of dermatitis herpetiformis, but there is rarely itching. Predominantly in women (4: 1); onset after 40 years of age. Seldom in children.
What does it look like?
Subcorneal pustular dermatosis is characterised by numerous soft pustules at the skin surface. They usually appear on the trunk, particularly in the skin folds such as the armpits and groin. They may appear on otherwise normal skin, but there are often within a red patch. The pustules resolve over a few days and are replaced by fine scale before there is another relapse and new pustules form again. The lesions are sometimes itchy, but generally the patient is otherwise well. It may flare-up for a few weeks and then clear up for months or years before reappearing. The process may be repeated over many years.
Subcorneal pustular dermatosis affects women more often than men and generally occurs in people over the age of forty.
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What is the cause of subcorneal pustular dermatosis?
The cause of subcorneal pustular dermatosis is not known.
However, it is associated with some other conditions. The most frequent are:
- IgA monoclonal gammopathy (accumulation of abnormal proteins in the blood)
- Multiple myeloma
- pyodermal gangrenosum
Other less frequent associated conditions include RA , SLE ,HYPOTHYROIDISM AND HYPERTHYROIDISM, polycythemia rubra vera, and SAPHO SYNDROME (synovitis, acne, pustulosis, osteitis).
Subcorneal pustular dermatosis can be very difficult to distinguish from generalised pustular psoriasis and acute generalised exanthematous pustulosis. They appear to be closely related disorders.
Investigations
Often, a skin biopsy will be performed to confirm the diagnosis.
Blood tests are likely to include a general screen such as blood count, calcium levels and liver function tests, and protein electrophoresis to look for a gammopathy.
Treatment
Treatment is aimed at preventing complications. dapsone is often successful, with the lesions resolving over a month. Ongoing maintenance with a lower dose is sometimes needed.
Other treatment options include:
- Sulfapyridine or sulfamethoxypyridazine (not available in New Zealand)
- acitretin
- phototherapy including UVB and PUVA
- COLCHICINE
- ciclospirin or other immune suppressants such as mycophentolate mofenil
- biological response mediators including infliximab and adalimumab
Miscellaneous other agents have been successfully used for individual patients.systemic steroids are generally ineffective and may in fact precipitate a flare-up of subcorneal pustular dermatosis.
Patients need long term follow-up with periodic evaluation of serum protein electrophoresis and immunophoresis because paraproteinemia or myeloma may develop after several years.
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