3/30 - UW 33 Flashcards

1
Q

What is the second most common cause of inherited mental retardation, after Down syndrome?

A

Fragile X

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2
Q

What is the clinical presentation of Fragile X Syndrome?

A
  1. Mild to moderate mental retardation
  2. Long face, prominent jaws, large ears, cleft palate
  3. Macroorchidism
  4. Mitral Valve prolapse
  5. Short height, double jointed, single palmar crease, scoliosis
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3
Q

Male with mild mental retardation, tall, gynecomastia, small testes and infertility?

A

Klinefelter

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4
Q

Male with tall stature, severe acne, mild developmental delay?

A

47,XYY

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5
Q

Mental retardation, large jaw, large testes?

A

Fragile X

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6
Q

Tall stature, arachnodactyly, ectopia lentis, dilatation of proximal aorta?

A

Marfan

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7
Q

What type of collagen is in Glomerular Basement Membrane?

A

Collagen type IV

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8
Q

Patients with granulomatosis with polyangiitis (Wegener’s) have involvement of what organ systems?

A

Upper resp tract: sinusitis, nasal ulceration
Lower resp tract: hemoptysis
Kidneys: RPGN

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9
Q

Antibodies against what proteins mediates rheumatic heart disease? Clinical signs?

A

Anti-M proteins of streptococci crossreact with glycoproteins of heart and joints. Presents with joint pain and cardiac murmur

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10
Q

What is deficient in Glanzmann thrombasthenia?

A

Gp IIb/IIIa

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11
Q

Abciximab MOA?

A

Gp IIb/IIIa receptor blocker

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12
Q

Transmural inflammation of the arterial wall with fibrinoid necrosis is characteristic of what disease?

A

Polyarteritis nodosa

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13
Q

In addition to the erythema with silvery scales, what else is seen in psoriasis?

A

Nails: yellow/brown discoloration with pitting, thickening or crumbling
Joints: arthritis with market deformities, like in RA

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14
Q

The “pterion” is where the frontal, parietal, temporal, and sphenoid bones meet in the skill. What artery is at risk here?

A

Middle MENINGEAL artery, a branch of the Maxillary. Can cause epidural hematomas

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15
Q

Differentiation of osteoclasts by what signal molecules?

A

RANK-ligand and Monocyte-CSF (both released by osteoblasts)

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16
Q

What protein dilutes the interaction between RANK and RANK-L?

A

Osteoprotegerin (OPG), a decoy receptor secreted by osteoblasts

17
Q

How does PTH stimulate bone resorption?

A

PTH receptors are NOT on osteoclasts, but on osteoblasts, stimulating release of M-CSF and RANK-L

18
Q

What is the effect of Low estrogen on bone vasularity?

A

Increase, due to increased VEGF

19
Q

What is embryonic hemoglobin called, and what globin chains is it composed of?

A

Gower hgb, composed of 2 zeta chains and 2 epsilon chains. Produced in the yold sac

20
Q

What organ produces fetal hgb (HbF)? What are its globin chains?

A

Fetal liver. HbF is composed of 2 alpha and 2 gamma chains

21
Q

What type of hemoglobin is composed of 2 alpha and 2 delta?

A

HbA2

22
Q

Between what 2 arteries does CN III course between as it leaves the midbrain?

A

Posterior cerebral

Superior cerebellar

23
Q

Aside from Spironolactone, what other drugs can be used for hirsutism?

A

Flutamide (testosterone receptor antagonist)

Finasteride (5-alpha-reductase inhibitor)

24
Q

Clomiphene MOA?

A

Antiestrogen, interferes with negative feedback of estrogens on hypothalamus and pituitary, thus INCREASING GnRH.

Used for infertility related to anovulation.

25
Q

Mitotane use?

A

Adrenortical carcinoma (adrenocorticolytic drug)

26
Q

In conjunction with general symptoms of anemia, what particular symptoms indicate iron deficiency anemia?

A

Spoon nails or koilonychia, and dysphagia

27
Q

What common drugs cause antimuscarinic effects?

A

Atropine, TCAs (amitriptyline), H1 antagonists (diphenhydramine), neuroleptics, antiparkinsonians

28
Q

What neoplasms show elevated CA 19-9?

A

Pancreatic cancer

29
Q

In addition to hepatocellular cancer, what other neoplasm shows high AFP?

A

Nonseminomatous testicular germ cell tumors (yolk sac tumors)

30
Q

What neoplasm is associated with opsoclonus-myoclonus syndrome?

A

Neuroblastoma

31
Q

Deficiency in what proteins causes narcolepsy?

A

Hypocretin-1 (orexin-A) or hypocretin-2 (orexin-B) (produced in the lateral hypothalamus

32
Q

In what disease do you see decreases in melatonin in the CSF?

A

Alzheimer

33
Q

Decreased levels of what metabolite are seen in Parkinson?

A

Decreased homovanillic acid (primary depamine metabolite)

34
Q

What lab test should be obtained to confirm Temporal Arteritis?

A

ESR (>100mm/hr). Biopsy for definitive dx.

35
Q

What is seen on biopsy in Polyarteritis Nodosa (PAN)?

A

Transmural inflammation of the arterial wall with fibrinoid necrosis

36
Q

Polyarteritis Nodosa is often associated with what disease?

A

Hep B