125 - diagnose this case 2

2^nd case: a 25 year old young woman has recurrent episodes of headache and sweating. Her mother had renal calculi and died after having a neck mass. The physical examination reveals a thyroid nodule but no clinical sign of thyrotoxicosis. Before performing thyroid surgery , the surgeon should order ?

1. measurement of thyroid hormones
2. serial determinations of serum calcium, phosphorous protein and alkaline phosphatase
3. 24 hours urine test for 5 HIAA excretion
4. Serial 24 hours test for catecholamines,metanephrines and vanillylmandelic acid excretion

Answer : d . pheochromocytoma must be excluded by measurement of urinary catecholamines levels in all cases before embarking upon thyroid surgery to avoid the potential hazards of this condition .

Assays employed for diagnosis of pheochromocytoma include those for :

1. vanillyl mandelic acid
2. metanephrines
3. free catecholamines

- the patient in question is a case of inherited MEN 2a syndromes . the presence of headache and sweating in a patient with thyroid nodule warrants prompt investigation for a possible pheochromocytoma as part of MEN 2 syndrome , more so in a patient with a positive familiy history ( as suggested by presence of renal calculi and thyroid nodule in mother )

- pheochromocytoma secrete large amounts of catecholamines , the secretion of which is further increased during surgery . this may result in large swings in blood pressure and arrythmias, and increases the risk of surgical mortality. Stable alpha adrenergic blockage is essential before embarking on thyroid surgery .

--- the option c is concerned with the diagnosis of carcinoid syndrome .

--- serum calcium and phosphorous alkaline phosphatase may aid in the diagnosis of hyperparathyroidism a part of MEN 2a but again offer no specific advantage to surgeons prior to surgery of thyroid .

124 - diagnose this case 1

1^st case : a 20 year old male presented with chronic constipation, headache and palpitations . on examination he had marfanoid habitus, neuromas of tongue , medullated corneal nerve fibres and nodule of 2 x 2 cms size in the left lobe of thyroid gland . the patient is a case of ?

1. sporadic medullary carcinoma of thyroid
2. familial medullary carcinoma of thyroid ( FMCT )
3. MEN 2a
4. MEN 2b

Answer : d. MEN 2b.

Explanation : the association of medullary carcinoma of thyroid and pheochromocytoma, with mucosal neuromas and marfanoid habitus is designated MEN 2b .

Mucosal neuromas and marfanoid habitus are the most distinctive features of MEN 2b and are recognized in childhood.

True neuromas are present on the tip of the tongue, under the eyelids and throughout the gastrointestinal tract and are tree neuromas distinct from neurofibromas .

1.the features of WERNER syndrome or MEN 1 are :

- parathyroid hyperplasia or adenoma

- pituitary hyperplasia or adenoma

- pancreatic islet cell hyperplasia or adenoma or carcinoma

other less common features of MEN 1 are :

- foregut carcinoid

- pheochromocytoma

- subcutaneous or visceral lipomas

- dermal angiofibromas and

- collagenomas

2. the features of MEN 2a are :

- pheochromocytoma

- medullary carcinoma of thyroid

- parathyroid hyperplasia or adeonoma

other less common features of MEN 2a are : ( chf )

- cutaneous lichen amyloidosis

- hirschsprung disease

- familial medullary thyroid cancer ( FMTC )

3. the features of MEN 2b are :

- medullary thyroid cancer

- pheochromocytoma

- mucosal and gastrointestinal neuromas

less common features of MEN 2b are :

- marfanoid habitus .

--- remember MEN 1 is otherwise called WERNER syndrome and MEN 2 is called SIPPLE syndrome .

123 - multiple sclerosis part 2

1. total volume of the T2 weighted signal abnormality shows significant correlation with clinical disability

2. MRSI can quatitate molecules like N acetyl aspartate which is marker for axonal integrity

3. mononuclear cell pleocytosis is seen in CSF

4. pleocytosis of greater than 75 suggested some other diagnosis rather than MS

5. increased level of intrathecally synthesized Ig G

6. protein concentration of greater than 100 mg/dl suggests some other diagnosis rather than MS

7. two or more oligoclonal bands are seen in CSF

8. patients with optic neuritis at onset have good prognosis

9. patients with sensory symptoms at onset have good prognosis

10. complete recovery from early attacks favour good prognosis

11. patients less than 40 years of age have good prognosis

12. women have good prognosis when compared to men

13. patients with RRMS course have good prognosis

14. patients with less than two relapses in the first year have good prognosis

15. progressive disease has good prognosis

16. presence of truncal ataxia has bad prognosis

17. if the symptoms begin from childhood then the patient has bad prognosis

18. presence of action tremor indicate bad prognosis

19. presence of pyramidal symptoms indicate bad prognosis

20. pregnant MS patients experience fewer attacks than expected ( especially third trimester )

21. more attacks experienced at 3 months post partum

22. when considered pregnancy as a whole ( 9 months pregnancy + 3 months postpartum ) the overall disease course is unaffected .

23. interferon beta 1 A , interferon beta 1 B, glatiramer acetate, mitoxantrone, natalizumab are the drugs used in the disease modifying therapies for relapsing forms of MS

24. separate attacks of acute optic neuritis and myelitis indicate NEUROMYELITIS OPTICA ( NMO ) rather than MS

25. brain stem, cerebellar and cognitive involvement indicate MS rather than NMO .

26. focal enhancing region of swelling and cavitation over 3 or more spinal cord segments in MRI favour a diagnosis of NMO rather than MS

27. association with systemic autoimmune disease like SLE favours NMO rather than MS

28. if the brain MRI is normal it indicates a diagnosis of NMO rather than MS

29. fulminant demyelinating acute MS without remissions leading to death within 1 to 2 years is called as MARBURG’S VARIANT .

30. presence of widely scattered small foci of perivenular inflammation and demyelination is characteristic of Acute Disseminated EncephaloMyelitis (ADEM )

31. ADEM follows smallpox and rabies vaccine

32. introduction of live measles vaccine has dramatically reduced the incidence of ADEM and now ADEM is mostly associated with chicken pox rather than measles infection .

33. meningismus, drowsiness, coma or seizures indicate ADEM rather than MS

34. bilateral optic nerve involvement is characteristic of ADEM

35. treatment of steroids, plasma exchange and IV Ig .

36. treatment for multiple sclerosis is Interferon BETA .

122 - multiple sclerosis part 1

1. sparing of the peripheral nervous system ( PNS ) is typical of Multiple sclerosis ( MS ) .

2. MS is not associated with any systemic illness.

3. CNS myelin is typically involved.

4. the disease has a typical waxing and waning course .

5. perivenular cuffing is present

6. T cells and macrophage inflammation is present

7. disruption of blood brain barrier

8. there is no disruption of vessel wall

9. MS is thrice as common in women as in men

10. age of onset is typically between 20 and 40 years

11. the disease can begin as early as 2 years and as late as 8^th decade .

12. prevalence of MS increases with increasing distance from equator

13. MS is polygenic

14. the most important MS susceptibility region is MHC on chromosome 6p21

15. DR2 is associated with MS

16. anti MOG ( myelin oligodendrocyte glycoprotein ) antibodies are predictive of future MS .

17. oligoclonal antibody is seen in MS

18. TH1 cytokines TNF, IL2 and IFN gamma are central to MS pathogenesis .

19. MS is common in high socioeconomic status , the cause being delayed exposure to infectious organisms .

20. Theiler virus model is the best studied experimental model of MS

21. HHV 6 and Chlamydia pneumoniae can be associated with MS

22. sensory loss is the most common initial symptom of MS

23. exercise induced weakness is characteristic symptom of MS

24. Visual symptoms in MS are mostly monocular .

25. periorbital pain aggravated by movement precedes visual loss

26. UVEITIS IS RARE

27. lesion in ipsilateral MLF leading to impaired adduction of one eye ( internuclear opthalmoplegia ) is common .

28. bilateral internuclear opthalmoplegia is particularly suggestive of MS

29. horizontal gaze palsy + internuclear opthalmoplegia is called ONE AND HALF SYNDROME .

30. acquired pendular nystagmus is a common gaze disturbance in MS

31. UHTHOFF’S SYMPTOMS : neurological symptoms in MS getting aggravated by elevation of body’s core temperature is called uhthoff’s phenomenon .

32. the most common disease course in MS is relapsing remitting multiple sclerosis ( RRMS )

33. leakage of gadolinium dye on MRI is an early marker of MS

34. lesions in MS on MRI are frequently oriented perpendicular to ventricular surface

35. lesions of anterior corpus callosum on MRI are common in MS

121 - systemic lupus erythematosus mcqs

1q: best screening test for SLE ?

Answer : anti nuclear antibody .

2q: auto antibodies in SLE associated with decreased risk of nephritis and sjogren syndrome ?

Answer : anti Ro and anti La ..

3q: auto antibody correlating with depression or psychosis in SLE ?

Answer : anti ribosomal protein antibody .

4q : auto antibody in SLE associated with subcutaneous and neonatal lupus ?

Answer : anto Ro antibody

5q: auto antibody in SLE correlating with active CNS lupus ?

Answer : anti neuronal antibody .

6q: antibody associated with inflammatory myopathy ?

Answer : anti histidyl t-RNA synthetase antibody .

7q: antibody associated with mixed connective tissue disorder ?

Answer : anto U1 RNP .

8q: antibody associated with sjogren’s syndrome and decreased risk of nephritis ?

Answer : anto Ro and anti La .

9q: anti body associated with diffuse cutaneous scleroderma ?

Answer : anti-topoisomerase 1 antibody, anti RNA polymerase 1,2,3 .

10q: antibody associated with limited cutaneous scleroderma ?

Answer : anti centromere , anti - Th RNP .

11q: most specific autoantibody in SLE ?

Answer : anti double stranded DNA antibody

12q: most frequent autoantibody in drug induced SLE ?

Answer : anti histone antbody .

13q: most specific and sensitive auto antibody in celiac disease ?

Answer : anti endomysial antibody .

14q: anti saccaromyces cervisial antibody is associated with which disease ?

Answer : crohn’s disease ( 60-70 % patients ) and in ulcerative colitis ( 10 -15 % ) .

15q: perinuclear anti neutrophilic cytoplasmic antibody ( p - ANCA ) is associated with which conditions ?

Answer : ulcerative colitis ( 60-70 % ) and in crohn’s disease ( 5 – 10 % ) . other conditions in which p – ANCA are seen are microscopic polyangitis , cresentric glomerulonephritis, churg strauss syndrome, goodpasture syndrome . microscopic polyangitis is another name for microscopic PAN . p – ANCA are rarely present or absent in classic PAN .

16q: c – ANCA antibodies are seen in ?

Answer : cytoplasmic anti neutrophilic antibodies are seen in wegener’s granulomatosis .

120 - MODY mutations

MATURITY ONSET DIABETES OF THE YOUNG ( MODY ) MUTATIONS

MODY 1	HNF 4 ALPHA mutation
MODY 2	Glucokinase gene mutation
MODY 3	HNF 1 ALPHA mutation
MODY 4	IPF – 1 mutation
MODY 5	HNF 1 BETA mutation
MODY 6	Neuro D1 mutation

HNF – stands for Hepatocyte Nuclear transcription Factor . IPF – stands for Insulin Promoter Factor .

119 - Blood pressure normal and abnormal values

1q: what are the normal values of hypertension ?

Answer : systolic less than 120 and diastolic less than 80 mm of Hg .

2q: if the patient has a systolic BP between 120 – 139 mm of Hg and a diastolic BP between 80 – 89 , then it is ?

1. prehypertension
2. stage 1 hypertension
3. stage 2 hypertension
4. isolated systolic hypertension

answer : a . prehypertension .

3q: systolic and diastolic BP values of stage 1 hypertension ?

1. systolic 140 – 159
2. diastolic 90 – 99
3. systolic greater than 160
4. diastolic greater than 100

answer : a and b .

4q: if the systolic BP is greater than or equal to 160 and diastolic greater than or equal to 100 then it is ?

Answer : stage 2 hypertension .

5q: BP values of isolated systolic hypertension ?

Answer : systolic greater than or equal to 140 and diastolic less than 90 .

6q: recommended criteria for a diagnosis of hypertension are average awake blood pressure of _________ and asleep blood pressure of __________ ?

Answer : greater than or equal to 135/85 ( awake ) and greater than or equal to 120/75 ( asleep ) . these levels approximate a clinic blood picture of 140/90 mm of Hg.

these values are according to the latest edition of harrison ( 17 th edition ) , please refer page number 1553 from the book .