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)