6 Flashcards
Carpal spasm
Trousseau sign (hypocalcemia)
Twitching of the nose and lips
Chvostek sign (hypocalcemia)
Cotruncal abnormalities (interrupted aortic arch, truncus arteriosus)
DGS
Other DGS if first and second pouches involved
hypertelorism, short palpebral fissures, micrognathia, bifid uvula, cleft palate
Familial Hyopcalciuric hypercalcemia (FHH) inheritance
AD
FHH defect
CaSR hyposensitivity in parathyroid gland and kidneys. Higher levels of calcium are needed to suppress PTH
Mild asymptomatic hypercalcemia, reduced urinary excretion of calcium and high normal or mildly elevated PTH
Familial Hypocalciuric hypercalcemia (AD)
GH, prolactin and EPO
Transmembrane receptor activation of Janus kinase-STAT pathway
Ach (nicotinic), serotonin, NMDA, GABA
transmembrane ligand gated ion channels (ionotropic receptors)
Insulin and insulin-like GF
Transmembrane receptors with tyrosine kinase activity
Vitamin D
Intracellular receptor (like steroid hormones)
Without ApoE3 and E4
liver cannot remove chylomicrons and VLDLs leading to increased cholesterol and TGs
ApoC2
Activates lipoprotein lipase on chylomicrons and VLDL
ApoA1
required for esterfication of free cholesterol in HDL particles by lecithin-cholesterol acyltransferase (LCAT)
LCAT or Apo1 deficiencies
low HDL and increased circulating free cholesterol levels
Inositol monophosphate inhibition is hypothesized to be one of the mechanisms by which ______ exerts its antidepressant and antimanic effects
lithium
FMR1 loss of function mutation
Fragile X
Neurophsychiatric issues, development delay, hyperlaxity of joints in hand, large testes, prominent forehead and chin, long and narrow face
Fragile X
1) Fibromyalgia cause
2) proven pain reduction method that improves function
1) Abnormal central processing of pain
2) Gradual incremental aerobic exercise
Bilateral muscle weakness and associated skin (malar rash, violaceous eruptions on the eyelids, knuckles and elevated Creatine kinase
Dermatomysitis
Inflammatory disorder that affects patients >50 and causes subacute pain and stiffness in the shoulders, hips, weight loss, fever and malaise
Polymyalgia rheumatica
Really bad in morning and gets better during the day
RA
Federal socialized medical insurance program: Covers 65 and older who have worked and paid taxes. Covers younger individuals with disabilities, ESRD, ALS
Medicare
Covering inpatient hospital visits
Medicare Part A