Diseases

Question 1

Hyperekplexia

Inheritance, Etiology, CM

Answer 1

1. AKA: Familial Startle Disease
2. Genetic ADD
3. Mutated a-subunits of glycine ligand gated ion channel receptor prevent glycine binding and channel opening

Question 2

Hypoalbuminemia

CM

Answer 2

Low protein in plasma
Way to increase concentration of free drug in plasma without changing total drug plasma concentration
May be toxic

Question 3

G6PDH Deficiency

Inheritance, Type of Syndrome, Result

Answer 3

XLR
Pharmacogenetic
Anti-malarials/Sulfonamides cause acute hemolysis

Question 4

Malignant Hyperthermia Susceptibility

Inheritance, Type of Syndrome, Result

Answer 4

ADD
Pharmacogenetic
Volatile Anaesthetics induce hyperthermia

Question 5

Pseudocholinesterase Deficiency
(Inheritance, Type of Syndrome, Result)

Answer 5

ARD
Pharmacogenetic
Excess succinylcholine drug causes persistent paralysis

Question 6

CYP2C9 variants
(Inheritance, Type of Syndrome, Result)

Answer 6

Unknown
Pharmacogenomic
Affects pharmacokinetics in regards to anti-coagulation with Warfarin

Question 7

VKORC1 variants
(Inheritance, Type of Syndrome, Result)

Answer 7

Unknown
Pharmacogenomic
Affects pharmacokinetics in regards to anti-coagulation with Warfarin

Question 8

Non-Small Cell Lung Cancer

Etiology, Treatment, Complications

Answer 8

Hyperactivation of EGFR (an RTK) signaling - more cells divide and proliferate
treat: tyrosine kinase inhibitors - EGFR inhibition - effective at shrinking tumor
Secondary mutations make drug target site dysfunctional, less sensitive to drug, these few cells survive, then proliferate, causing tumor recurrence

Question 9

Spina Bifida 
(etiology, types, appearance)

Answer 9

1. incomplete neurulation prevents somite scleratomes (vertebral arch) to form over neural tube properly
2. SC open to surface/displaced via cyst
3. SB occulta: normal functioning, but incomplete arch - tuft of hair on skin over area where SC is not fully covered

Question 10

HPV

pathway

Answer 10

induces squamous dysplasia (cervical intraepithelial neoplasia) - invasive squamous carcinoma

Question 11

Carcinoma in situ

what is it

Answer 11

abnormal changes in entire thickness of epithelium from basal layer to surface

Question 12

Blepharospasm

Clinical Manifestations, Treatment

Answer 12

CM: functional blindness due to spasmodic contractions of eye/eyelid muscles)
Treat: 1ng BOTOX A - decreases spasticity to keep eyes open
need to repeat doses because nerves grow new routes to innervate same target muscle

Question 13

Myasthenic Gravis

Clinical Manifestation, Etiology, Treatment

Answer 13

1. droopy eyelids (ptosis) + muscle fatigue
2. normal initial muscle strength but NMJ excitations decrease over time
3. less nicotinic ACh receptors + less scalloped folds in muscle fibers to create synaptic cleft
4. Treat: -stigmines: inhibit AChE - prolong effects of ACh

Question 14

Synpolydactyly

CM, Inheritance, Cause

Answer 14

1. mutation in HOX-D13 (expansion of polyA stretch in N-terminal region)
2. ADD with incomplete penetrance
3. heterozygous (abnormal metacarpal branching - poor segmentation); homozygous (distal metacarpals look like proximal carpals - abnormality in segmental identity along distal/proximal axis)

Question 15

Holoprosencephaly

CM, Inheritance, Cause

Answer 15

1. mutation in Shh (inactivates pathway)
2. ADD
3. partial/no separation of brain hemispheres - fused eyes, midfacial clefting, small head (okay limbs/somites because not as dependent on Shh as CNS)

Question 16

Nevoid Basal Cell Carcinoma Syndrome

CM, Inheritance, Cause

Answer 16

1. mutation in Ptch1 (activates pathway)
2. ADD
3. calcification of skull midline, rib branching, extra ribs, large head, wide-eyed, risk for cancer

Question 17

Greig Cephalopolysyndactyly Syndrome

CM, Inheritance, Cause

Answer 17

1. Mutation in GLI3 (causes pathway activation)

2. big head, extra fused digits

Question 18

Post-Axial Polydactyly Type A

CM, Inheritance, Cause

Answer 18

1. Mutation in GLI3 (pathway activation)

2. Extra digits in hands/feet