2 Flashcards
Absent or abnormal (incus, malleus, stapes) lead to profound conductive hearing loss. Also see craniofacial abnormalities (mandibular, maxillary, zygomatic bone hypoplasia) due to abnormal development of 1st and 2nd pharyngeal arches
Treacher-Collins syndrome
Learn your arches
Kidney issues:
1) Heroin and pamidronate:
2) Gold therapy
1) FSGS
2) Membranous nephropathy
Most common agents for tubular necrosis?
Aminoglycosides, radiocontrast media, cisplatin, AmpB, foscarnet
Drug induced tubular obstruction
Sulfonamides, MTX (and motabolite), IV acyclovir, triamterene can precipitate in renal tubules and cause failure
Drug induced interstitial nephritis (renal interstitial infiltration)
Methicillin (MC), cephalosporins, acetazolamide, allopurinol, sulfonamides, and NSAIDs
a chloride channel that is activated by cAMP-mediated phosphorylation and subsequently gated by ATP
CFTR (3 base pair deletion that removes a phenylalanine at position delta-508)–>impaired posttranslational processing
Less common CFTR mutations
1) Mutations causing premature termination of the transmembrane protein (nonsense, frameshift)–>complete absence of CFTR (Ashkenazi Jew)
2) Mutation–>defective ATP binding by CFTR–>membrane bound nonfunctional protein
3) Mutation–>impaired chloride conductance through CFTR (milder disease)
4) Mutation–> decreased production of functionally normal CFTR (reduced mRNA or protein stability) also milder
Amlodipine (DHP vasodilator) ADRs
HA, dizziness, flushing, peripheral edema
Indapamide
thiazide diuretic used for HTN tx
Terazosin (alpha-1 antagonist) used in BPH/HTN ADRs
lightheadness, orthostatic hypotension
Prolonged neonatal jaundice beyond 2 weeks due to increased erythrocyte breakdown and immaturity of newborn liver
Glucose-6-phosphate dehydrogenase deficiency
Role of IL-2 and INF-gamma in granuloma formation
IL-2 stimulates the autocrine proliferation of Th1 cells and INF activates macrophages–>promoting granulomas
Metabolism of glucose through hexose monophosphate (HMP) shunt has two major fucntion (all rxns occur in cytoplasm)
1) production of NADPH as a reducing equivalent
2) synthesis of ribose-5 phosphate for nucleotide synthesis (non-oxidative)
Note: in erythrocytes, the HMP shunt is only major pathway that generates NADPH to maintain glutathione in a reduced form via glutathione reductase (protects from free radical damage)
G-6-PD results in denatured hemoglobin (heinz bodies resulting in erythrocyte destruction by spleen. Additionally oxidative stress results in …
stiffening of the erythrocyte membrane and hemolysis in the microvasculature due to an inability of the erythrocyte to deform and fit through capillary beds
Cholesterol gallstone are due to ability of bile salts to solubilize cholesterol being overwhelmed by concentration of cholesterol in bile. These stones are yellow and pale gray and hard. Now what about pigment stones?
Composed of calcium salts and UNCONJUGATED bilirubin (soft and brown-black)
Arise secondary to bacterial (e.coli) or helminthic (Ascaris lumbricoides, Clonorchis sinensis aka liver fluke) infection of biliary tract resulting in release of beta-glucuronidase (hydrolyize bilirubin glucuronides to increase unconjugated bilirubin) by injured hepatocytes and bacteria
Pigment stones (asian populations or hemolytic anemia)
7-alpha-hydroxylase catalyzes the conversion of cholesterol to 7-alpha-hydroxycholesterol
First step in bile salt synthesis (lowers ratio of cholesterol to bile salt) = protective to cholesterol stones
_____ upregulate HMG Co-A reductase to increase cholesterol synthesis
Estrogen
High-oxygen affinity hemoblobin mutations (left shift/lowered P50)
Hemoglobins Chesapeake and Kempsey–>Kidney will increase EPO to keep patient mainly asymptomatic
Sickle cell oxygen-Hb curve shift?
Right (hypoxia-induced hemolysis)
Fever, uticaria, angioedema, eosinophilia
Katayama fever caused by Schistosomia Haematobium
How does Toxic Shock Syndrome present?
Fever, vomiting, diarrhea, desquamation and HYPOTENSION
Loners with longings
Avoidant personality disorder
vs schizoid or schizotypal = content w/ social isolation
10 years post radical mastectomy in setting of persistent lymphedema (chronic dilation of lymphatic channels)
Lymphangiosarcoma- malignant neoplasm of the endothelial lining of lymphatic channels