3/30 - UW 33 Flashcards
What is the second most common cause of inherited mental retardation, after Down syndrome?
Fragile X
What is the clinical presentation of Fragile X Syndrome?
- Mild to moderate mental retardation
- Long face, prominent jaws, large ears, cleft palate
- Macroorchidism
- Mitral Valve prolapse
- Short height, double jointed, single palmar crease, scoliosis
Male with mild mental retardation, tall, gynecomastia, small testes and infertility?
Klinefelter
Male with tall stature, severe acne, mild developmental delay?
47,XYY
Mental retardation, large jaw, large testes?
Fragile X
Tall stature, arachnodactyly, ectopia lentis, dilatation of proximal aorta?
Marfan
What type of collagen is in Glomerular Basement Membrane?
Collagen type IV
Patients with granulomatosis with polyangiitis (Wegener’s) have involvement of what organ systems?
Upper resp tract: sinusitis, nasal ulceration
Lower resp tract: hemoptysis
Kidneys: RPGN
Antibodies against what proteins mediates rheumatic heart disease? Clinical signs?
Anti-M proteins of streptococci crossreact with glycoproteins of heart and joints. Presents with joint pain and cardiac murmur
What is deficient in Glanzmann thrombasthenia?
Gp IIb/IIIa
Abciximab MOA?
Gp IIb/IIIa receptor blocker
Transmural inflammation of the arterial wall with fibrinoid necrosis is characteristic of what disease?
Polyarteritis nodosa
In addition to the erythema with silvery scales, what else is seen in psoriasis?
Nails: yellow/brown discoloration with pitting, thickening or crumbling
Joints: arthritis with market deformities, like in RA
The “pterion” is where the frontal, parietal, temporal, and sphenoid bones meet in the skill. What artery is at risk here?
Middle MENINGEAL artery, a branch of the Maxillary. Can cause epidural hematomas
Differentiation of osteoclasts by what signal molecules?
RANK-ligand and Monocyte-CSF (both released by osteoblasts)
What protein dilutes the interaction between RANK and RANK-L?
Osteoprotegerin (OPG), a decoy receptor secreted by osteoblasts
How does PTH stimulate bone resorption?
PTH receptors are NOT on osteoclasts, but on osteoblasts, stimulating release of M-CSF and RANK-L
What is the effect of Low estrogen on bone vasularity?
Increase, due to increased VEGF
What is embryonic hemoglobin called, and what globin chains is it composed of?
Gower hgb, composed of 2 zeta chains and 2 epsilon chains. Produced in the yold sac
What organ produces fetal hgb (HbF)? What are its globin chains?
Fetal liver. HbF is composed of 2 alpha and 2 gamma chains
What type of hemoglobin is composed of 2 alpha and 2 delta?
HbA2
Between what 2 arteries does CN III course between as it leaves the midbrain?
Posterior cerebral
Superior cerebellar
Aside from Spironolactone, what other drugs can be used for hirsutism?
Flutamide (testosterone receptor antagonist)
Finasteride (5-alpha-reductase inhibitor)
Clomiphene MOA?
Antiestrogen, interferes with negative feedback of estrogens on hypothalamus and pituitary, thus INCREASING GnRH.
Used for infertility related to anovulation.
Mitotane use?
Adrenortical carcinoma (adrenocorticolytic drug)
In conjunction with general symptoms of anemia, what particular symptoms indicate iron deficiency anemia?
Spoon nails or koilonychia, and dysphagia
What common drugs cause antimuscarinic effects?
Atropine, TCAs (amitriptyline), H1 antagonists (diphenhydramine), neuroleptics, antiparkinsonians
What neoplasms show elevated CA 19-9?
Pancreatic cancer
In addition to hepatocellular cancer, what other neoplasm shows high AFP?
Nonseminomatous testicular germ cell tumors (yolk sac tumors)
What neoplasm is associated with opsoclonus-myoclonus syndrome?
Neuroblastoma
Deficiency in what proteins causes narcolepsy?
Hypocretin-1 (orexin-A) or hypocretin-2 (orexin-B) (produced in the lateral hypothalamus
In what disease do you see decreases in melatonin in the CSF?
Alzheimer
Decreased levels of what metabolite are seen in Parkinson?
Decreased homovanillic acid (primary depamine metabolite)
What lab test should be obtained to confirm Temporal Arteritis?
ESR (>100mm/hr). Biopsy for definitive dx.
What is seen on biopsy in Polyarteritis Nodosa (PAN)?
Transmural inflammation of the arterial wall with fibrinoid necrosis
Polyarteritis Nodosa is often associated with what disease?
Hep B
