Clinical Sciences (Basics)

Question 1

Ashkenazi Jews + Bone Pain + Hepatosplenomegaly

Answer 1

Gaucher’s Disease

Question 2

Importance of P1 receptor

Answer 2

Induces Apoptosis

Question 3

Weakness of Muscles + Absent Knee and Ankle Jerk + Reduced sensations

Answer 3

Heriditary Motor and Sensory Neuropathy Type 1

Question 4

Increased Aminolevulinic Acid and Porphobilinogen

Answer 4

Acute Intermittent Porphyria

Question 5

Homocystinuria primary management

Answer 5

Pyridoxine supplementation

Question 6

Very tall with upward lens dislocation

Answer 6

Marfan’s Syndrome

Question 7

Very tall with downward lens dislocation

Answer 7

Homocystinuria

Question 8

Elevated Ghrelin seen in

Answer 8

Prader-Willi Syndrome

Question 9

BRACA 1 and BRACA 2 type of Inheritance

Answer 9

Autosomal Dominant

Question 10

Differentiate between Klienfilters and Marfans syndrome

Answer 10

No affect to fertility in Marfans

Question 11

Gene Associated with Pancreatic Adenocarcinomas

Answer 11

KRAS

Question 12

Chromosome for von-Willebrands Factor

Answer 12

Chromosome 12

Question 13

Alkaptonuria enzyme defect

Answer 13

Homogentisic Oxidase deficiency

Question 14

Urine turning brown/black on standing

Answer 14

Alkaptonuria

Question 15

Hereditary Spherocytosis gene defect

Answer 15

Spectrin and Ankyrin

Question 16

Cardiomyopathy + Ptosis + Cataract + muscle weakness of face

Answer 16

Myotonic Dystrophy

Question 17

Confirmatory test for Gaucher’s Disease

Answer 17

Elevated Acid Phosphatase

Question 18

Weight Gain + Hyperflexibility and Retardation

Answer 18

Prader-Willi syndrome

Question 19

Pseudohypoparathyroidism defect

Answer 19

G-protein linked to PTH Receptor

Question 20

Genetic defect associated with Male breast cancer

Answer 20

Klienfelter’s Syndrome

Question 21

RCC + Pheochromocytoma + Retinal + Cerebellar hemangioblastoma

Answer 21

Von-Hippel-Lindau disease

Question 22

Enzyme defect seen in Homocystinuria

Answer 22

Cystathionine Beta Synthase deficiency

Question 23

Genetic disease prevalent in Finnish/Scandinavian

Answer 23

Alpha-1 Antitrypsin deficiency

Question 24

Physical sign most suggestive of Familial Hypercholestrolemia

Answer 24

Tendon Xanthomas

Question 25

Mode of Inheritance of Prader-Willi

Answer 25

Non-Mendelian

Question 26

Mode of Inheritance of Wiscott Aldrich

Answer 26

X-linked recessive

Question 27

Mode of Inheritance of C3 deficiency

Answer 27

Autosomal Recessive

Question 28

Skin over First web space supplied by first web space

Answer 28

Radial Nerve

Question 29

Shoulder Movement even passive with pain

Answer 29

Rotator Cuff Tendinitis

Question 30

Pain in 60-120 degree movement of shoulder other than that no pain

Answer 30

Supraspinatus Tendinitis (Impingement syndrome)

Question 31

Shoulder pain during active and passive movement

Answer 31

Adhesive capsulitis

Question 32

Azygous lobe of Lung seen in

Answer 32

Right Upper Zone of Lung

Question 33

Nerve of lesion in winging of scapula

Answer 33

Long thoracic nerve

Question 34

Severe pain in the upper limbs, followed by rapid muscle weakness after vaccination

Answer 34

Neuralgic Amyotrophy

Question 35

Anatomical point for CVC

Answer 35

2cm under the mid point of clavicle and 1 cm laterally

Question 36

Main damage of UV Radiation on cells

Answer 36

Formation of Pyramidine dimers

Question 37

Progressive ataxia investigation for identification of Gene

Answer 37

TP-PCR

Question 38

Function of BRCA 1 gene

Answer 38

DNA Repair

Question 39

Endothelin function

Answer 39

Afferent arteriolar vasoconstriction

Question 40

Which system responds by vasoconstriction to Hypoxia

Answer 40

Pulmonary System

Question 41

Retinitis Pigmentosa + Bilateral Hearing Loss + Type 1 Diabetes Mellitus + Complete heart block

Answer 41

Kearns-Sayre Syndrome