Usmle Step 1 Dit: Reproduction

Front 1

List the autosomal dominant diseases

Back 1

Very Powerful DOMINANT Humans

V: Von-hippel and Von willebrand

P: Pseudohypoparathyroidism

D: Dystrofia Mytonica

O: Osteogenesis imperfecta

M: Marfan syndrome

I: Intermittent porphyria

N:Neurofibromatosis I

A: Acondroplasia, adult polycystic kidney disease (ADPKD) and adenomatous familial polyposis

N: Neurofibromatosis type 2

T: Tuberus sclerosis

H: Hypercholesterolemia, Hereditary hemorrhagic telengiectasia, hereditary spherocytosis, huntington disease

Hint 1

Very Powerful DOMINANT Humans

Front 2

Chest pain, dyspnea on exertion, ST elevation, Troponin I is elevated, HR: 110 bpm, RR: 25/min, yellowish papules on upper eyelids

Back 2

Hypercholesterolemia

Front 3

Fatigue and skin yellowing, anemic in the past, recent viral illness, HR:120 bpm, jaundice, Hgb: 8.1, MCV: 85, MCHC: 39, increased cell hemolysis

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Hereditary spherocytosis

Front 4

Can lead to MI before age 20

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Familial hypercholesterolemia

Front 5

Tendon xanthomas, classically on alchilles tendon

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Familial hypercholesterolemia

Front 6

How does the fact that a patient is homozygote or heterozygote for familial hypercholesterolemia affect the prognosis?

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Hetero is less severe. With LDL levels over 300, Homo with LDL over 700

Front 7

Diagnosis of hereditary spherocytosis is made with what criteria?

Back 7

- Spheroid erythrocytes

- Hemolytic anemia

- Abnormal osmotic fragility test

Front 8

Why do patients with spherocytosis have high blood viscocity?

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BC their RBC are not flexible due to spectrin or ankyrin defect

Front 9

What labs are altered in patients with hereditary spherocytosis ?

Back 9

high MCHC, blood viscosity, possibly evidence of recent viral infection

Front 10

What are the 7 C's of huntington disease?

Back 10

Chorea, caudate atrophy, decreased actylcholine (&GABA) in the brain, CAG trinucleotide repeat order, Cognitive decline, Cuarenta (years old), Chromosome cuatro

Front 11

Fibrillin-1 gene mutation

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Marfan syndrome

Front 12

RET gene

Back 12

MEN2A and 2B in Multiple endocrine neoplasias (MEN)

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MEN1 gene

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Associated to subtype MEN1

Front 14

Characterized by familial tumors of endocrine glands

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MEN (1,2A, 2B)

Front 15

Associated to pancreas, parathyroid and pituitary neoplasms

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MEN 1- MEN 1 gene

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Associated to medullary thyroid, mucosal tumor and pheochromocytomas

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MEN2B - RET gene

Front 17

Associated to pheochromocytoma, medullary thyroid and parathyroid tumors

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MEN 2A - RET gene

Front 18

Caused by mutations in the NFI gene on chromosome 17:17

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Neurofibromatosis type I (Von Recklinghausen)

Front 19

Caused by mutations in the NF2 gene on chromosome 22

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Neurofibromatosis type II

Front 20

Neurocutaneous disorder with multi-organ system involvement, characterized by numerous benign hamartomas.

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Tuberous sclerosis

Front 21

Due to mutated hemartin or tuberin gene that cause non-malignant tumors in brain and other organs.

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Tuberous sclerosis

Front 22

Associated to deletion of VHL gene on chromosome 3

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Von- hippel lindau disease

Front 23

Disorder characterized by development of numerous tumors, both benign and malignant

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Von- hippel lindau disease

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Associated with hemangioblastomas (retina, cerebellum and medulla), pheochromocytomas and multiple renal cell carcinoma

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Von- hippel lindau disease

Front 25

Seizures, intelectual dissability, cardiac rhabdomyomas, cortical and retinal hemartomas, astrocytomas

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Tuberous sclerosis

Front 26

Hearing loss, bilateral tinnitus, decreased vision, hyperpigmented skin lesion, cerebellar testing difficulty, bilateral catatacts, bilateral decreased hearing, hyperpigmented arm macules

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Neurofibromatosis type 2

Front 27

Bilateral acoustic schwannomas, juvenile cataracts, nonmalignant brain tumors on CN VIII

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Neurofibromatosis type 2

Front 28

Associated with floppy mitral valve, dissecting aortic aneurysm, berry aneurysm

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Marfan syndrome

Front 29

Associated with mitral valve prolapse, liver disease, berry aneurysm

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Autosomal dominant polycystic kidney disease

Front 30

Neural tumors and pigmented iris hamartomas (leish nodules)

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Neurofibromatosis type I

Front 31

Cafe au lait spots, scolyosis, leish nodules

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Neurofibromatosis type I

Front 32

Very strong association with colon cancer

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Familial adenomatous polyposis

Front 33

Cystic medial necrosis of the aorta

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Marfan syndrome

Front 34

Defect in fibroblast growth factor receptor (FGF) receptor 3

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Achondroplasia

Front 35

Flank pain, hematuria, HTN, renal failure, always bilateral, massive englargement of kidneys due to multiple large cysts

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Autosomal dominant polycystic kidney disease (ADPKD)

Front 36

Mutation in PKD1 on chromosome 16:16

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85% of cases of ADPKD

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PDK2 mutation on chromosome 4

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15% of cases of ADPKD

Front 38

Mutations on chromosome 5 - APC gene

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Familial adenomatous polyposis (FAP)

Front 39

Progresses to colon cancer unless colon is resected

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FAP

Front 40

Telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations (AVMs)

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Hereditary hemorrhagic telangiectasia (Osler-weber-rendu)

Front 41

Type of FAP with polyps in the colon and tumors outside the colon.

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Gardners syndrome

Front 42

X-linked frameshift mutation with truncated dystrophin protein and accelerated muscle breakdown

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Muscular dystrophy of duchenne

Front 43

Trinucleotide repeat expansion diseases

Back 43

Fragile X syndrome = CGC

Freidreich ataxia = GAA

Huntington disease = CAG

Myotonic dystrophy = CTG