Mon jul 27 Flashcards
speed of hemoglobin movement on gel electrophoresis?
hemoglobin A> hemoglobin S> hemoglobin C
what is the normal form of hemoglobin?
HbA
what mutation occurs in sickle cell anemia?
glutamate (neg charge) on the beta chain is replaced with valine (nonpolar)
what mutation occurs in hemoglobin C?
glutamate is replaced with lysine (pos charge)
what types of mutations cause HbS and HbC?
missense mutations
what type of hemoglobin do patients with alpha thalasemmia have?
HbH (beta tetramers)
what is HbH?
beta tetramers
how would HbH look on electrophoresis?
it would migrate FARTHER than HbA
what is Hb Barts?
gamma
what will you see on blood smear of someone with HbC?
HbC crystals
what is the name of the disorder with galactokinase deficiency?
galactosemia
Presentation of galactosemia
cataracts and reducing sugars in the urine
how does fructokinase deficiency present? (essential fructosuria)
Benign - + reducing sugars in urine
what is deficient in hereditary fructose intolerance?
aldolase B
presentation of hereditary fructose intolerance?
hypoglycemia, hypophosphatemia, failure to thrive
whats the function of the theca externa cells?
do NOT participate in steroidogenesis - they are supportive tissue made of SM and fibroblasts
whats the function of theca interna cells?
synthesize androgens and progesterone under stimulation of LH
which cells convert androgens to estrogen in the female ovary?
granulosa cells (in response to FSH)
what enzyme do granulosa cells contain?
aromatase
function of renin?
converts angiotensinogen to angiotensin I
function of ACE?
converts angiontensin I to angiotensin II
functions of angiotensin II
- increases aldosterone
- systemic vasoconstriction
- efferent arteriolar vasoconstriction
chromosomal findings of klinefeleters?
47, XXY
pathophys of C diff toxins
Toxins disrupts cellular cytoskeletons and and tight junctions -> apoptosis/necrosis and formation of pseudomembranes
what will be seen on histology of someone with C diff?
neutrophilic infiltrate, fibrin, bacteria and necrotic epithelium
presentation of salmonella typhi
bloody diarrhea, fever, abdominal pain, salmon coloured macules on trunk
which cell marker is found on monocytes/macrophages?
CD14
function of CD14?
binds to bacterial LPS
how can grapefruit juice lead to decreased metabolism of drugs?
it inhibits the INTESTINAL CYP 450s
why are OCPs, multiparity and breastfeeding protective over epithelial ovarian cancer?
they decrease ovulation - decrease the frequency of trauma and repair at the ovarian surface
name two microangiopathic hemolytic anemias
TTP and HUS
pathophys of TTP?
decreased ADAMTS13 - normally cleaves vWF into smaller monomers for degradation. Large uncleaved monomers lead to abnormal platelet adhesion resulting in microthrombi. - usually from autoantibody against ADAMTS13
presentation of microangiopathic hemolytic anemia? (HUS and TTP)
- skin and mucosal bleeding
- hemolytic anemia
- fever
- renal insufficiency (HUS)
- neurological abnormalities (TTP)
lab findings of microangiopathic hemolytic anemia? (HUS and TTP)
- thrombocytopenia with increased bleeding time
- normal PT/PTT
- anemia with schistocytes
- increased megakaryocytes on bone marrow biopsy
treatment of microangiopathic hemolytic anemia? (HUS and TTP)
plasmapheresis and corticosteroids
how does hypertensive nephrosclerosis appear microscopically?
-intimal thickening and luminal narrowing or the arterioles, with glomerular sclerosis
which type of cells get destroyed by H pylori related inflammmation in the antrum of the stomach?
somatostatin-secreting cells (delta cels)– decreased inhibition of gastrin
what encapsulated a pancreatic pseudocyst?
granulation tissue
what lines a true cyst?
epithelial cells
pathophys of HIV associated dementia
HIV enters the CNS via infected monocytes and establishes a productive infection in microglial cells and perivascular macrophages. This leads to formation of small areas of necrosis and multinucleated giant cells
does D-xylose require pancreatic enzymes for absoprtion?
No, its a monosaccharide (as is glucose and galactose) and thus is absorbed by faciliated diffusion or co-transport
what is the most commonly delayed milestone?
language
explain the specific pathway of a carotid massage
The baroceptors in the carotid sinus detect a change in pressure. The affarent pathway is the Hering nerve; a branch of the CN IX, which travels to the medulla. The efferent nerve is the vagus nerve.
anti-cyclic citrullinated peptide antibodies are associated with which disease?
rheumatoid arthritis
which antibodies are associated with SLE?
ANA, anti-double stranded DNA, and anti-smith
antihistone antibodies are associated with wchih disease?
drug induced lupus
lab findings in SLE?
anemia, leukopenia, thrombocytopenia
+ ANA, anti-ds DNA, anti-smith
-low complement levels, increased immune complexes
AMA antibodies are found in which disorder?
primary biliary cholangitis
which type of maneuvers worsen left ventricular hypertrophy?
maneuvers that decrease LV preload or decrease afterload - the decraesed blood volume worsens the LVOT obstruction
