Biochem

Question 1

Answer 1

Koplik spots: Small, irregular red spots on buccal/lingual

mucosa with blue-white centers. Seen in Measles infections

Single stranded, negative sense, Helical, Enveloped, RNA virus

Paramyxovirus

also known as Rubeola, diagnosed by Cough, Conjunctivits, Coryza

Question 2

Answer 2

Nevus Flammeus, port-wine stain associated with Sturge-Weber syndrome

Question 3

Answer 3

Achilles Tendon Xanthoma seen in Familial Hypercholesterolemia. result of decreased LDL signalling

Question 4

Answer 4

Calf pseudohypertrophy associated with Dechenne’s Muscular dystrophy. mutation in Dystrophin gene. Problem associated with HIPS

Question 5

Answer 5

Cherry red spot on Macula:

Tay-Sachs (ganglioside accumultion) or

Neiman pick (sphyngomyelin accumulation)

central retinal artery occulsion

Question 6

Answer 6

Alkaptonuria (Ochronosis):

Deficiency of Homogentisate oxidase

Tyrosine to Fumarate pathway

Pigment deposists in connective tissue, urine turns black on exposure to air, arthralgia

Homogentistic acid is toxic to cartilege

Question 7

Answer 7

Cheilosis (Ribolavin deficiency):

vit b2

inflammation of lips, scaling, and fissures at the corners of the mouth

riboflavin makes FAD and FMN used as cofactor in redox reactions (succinate dehydrogenase)

Question 8

Answer 8

Marfans Sydrome

lens subluxation,

upward and outward

Question 9

Answer 9

Homocysteinura

ocular findings

lens subluxation,

downward and inward

Question 10

Answer 10

Palmar xanthoma:

Type III Dysbetalipoproteinemia

defective ApoE (everything except LDL)

increased Chylomicrons and VLDL

risk of premature atherosclerosis