Mixed Block Notes 11 Flashcards
Xanthomas are most characteristic of
Hypercholesterol or Hypertriglyceride
Familial hypercholesterolemia etiology
LDL Receptor
Peutz-Jeghers mutation
Serine/Threonine kinase 11 (STK11) on 19
Peutz-Jeghers manifestations
Skin lesions within first few years, intestinal polyposis follows
Buccal mucosa pigmented lesions
Pathognomonic for Peutz-Jeghers
Histology of Rhabdomyoma
Fascicles of polygonal cells with vacuolated cytoplasm and peripherally placed nuclei
Where do Rhabodmyomas occur
Head and neck of younger males
Dermoepidermal junction autoantibodies to type VII collagen
Epidermolysis Bullosa Acquisita
Clomiphene is best used to
Achieve fertility in women with ovulatory failure who are normogonadotrophic, normoprolactinemic, euthyroid
hCG therapy can be used to trigger
ovulatory cascade in an oocyte donor when her follicles are deemed mature
HOCM murmur is louder/softer with
Louder with decreases in Preload or Afterload; Softer with increases
IgA deficiency can lead to incr incidence of
Atopic, Autoimmune disease
Excise RNA primers and replace with DNA
DNA Polymerase I
AFP is associated with what repro malignancy
Yolk Sac tumors
Classic AE’s with Prednisone
Avascular necrosis of femoral head, Insomina, Psych
Glyburide
Sulfonylurea
Cytoplasmic what accumulation is a hallmark of ischemic injury
Ca2+
Tamm-Horsfall
Exclusively secreted by renal tubular epithelial cells in ascending LOH (Prerenal azotemia and low urine flow rate –> Accumulation to form hyaline casts)
Findings in homocysteinuria
Marfanoid, Lens down and in, Thrombosis, Athersclerosis, Osteoporosis
Warfarin embryopathy
Midfacial hypoplasia, Chondrodysplasia punctata, Hemorrhage, Organ hypoplasia, CNS
Changing of pili in neisseria
Phase variation (on-off) and Antigenic variation
Complementation
Production of distinct phenotypic trait resulting from homozygous mutations in more than on egene
Important finding NOT found in McArdle’s
Hypoglycemia (liver glycogen phosphorylase intact)
Glycogen synthase deficiency
Infancy = Hypoglycemia, Ketosis, Metabolic acidosis, Growth delays