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.
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