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108 Cards in this Set

  • Front
  • Back
Deficiency of enzyme that is associated with fructose intolerance
aldose B
Treatment of fructose intolerance
removal of sucrose, fructose and sorbitol from the diet
Characterized by parathyroid tumors, pituitary tumors and pancreatic tumors
MEN 1
Characterized by hamartomes in the cortices and retinas, cardiac rhabdomyomas, seizures, mental retardation, facial angiofibromas and hypomelanotic macules (ash leaf spots)
Tuberous sclerosis
Effect of tissue catabolism
increase in amino acid breakdown, leading to a larger amount of urea, which leads to increased BUN
MOA for vancomycin
bind the D-Ala terminus of peptidoglycan thus preventing elongation of the chain in the cell wall synthesis
Drugs that may cause cutaneous flushing
Vancomycin, naicin, Ca++ channel blockers, and adenosine
N&V, fever, watery diarrhea around 24 hours after eating undercooked oysters- TOW?
Vibrio parahaemolyticus
Staghorn calculi most commonly contain
ammonium magnesium phosphate
Low molecular weight heparin works by binding antithrombin III which inactivates
factor Xa
syndrome is characterized by antibody binding to the pre-synaptic membrane and weakness that is relieved by repeated muscle stimulation
Lambert-Eaton syndrome
B-hCG is secreted by the _____ of the placenta
syncytiotrophoblast
Antibodies against parietal cells and intrinsic factor are found. Megaloblastic anemia with hypersegmented neutrophils due to vitamin B12 deficiency is characteristic
Pernicious anemia
Mech. of action for Cyclosporine-
binds to cyclophilins inhibiting Calcineurin
The extended spectrum penicillin’s, including ticarcillin, are susceptible to
B-lactamase
a hereditary hyperbilirubinemia that has no clinical consequences
Gilbert’s syndrome
an immature defense mechanism associated with borderline personality disorder. People are seen as all good or all bad and can change back and forth very fast
Splitting
a dehydrofolate reductase that is a first line treatment for small nonruptured ectopic pregnancy
Methotrexate
mainly responsible for producing the glomerular basement membrane
Podocytes
The most common sight for Meckel’s diverticulum is______. Bleeding is the most common presentation in children
2 feet proximal to the ileocecal valve in the right lower quadrant
Homocystinuria is a rare genetic disease caused by cystathionine synthase deficiency. Both Homocysteine and methionine will be elevated. Elevated Homocysteine levels increase risk for
thromboebolic events
Laryngotracheobronchitis (croup) is most commonly caused by
parainfluenza virus
This test is used to diagnose the cause of vitamin B12 deficiency. First radioactive vitamin B12 is given orally, followed by intramuscular injection of non-radioactive B12. A normal person excretes radioactive B12. If excreted levels are low there is defective GI absorption of B12
Schillings test
the most common cause of nephrotic syndrome in children. Nephrotic syndrome presents with hypoalbuminia, proteinuria, hyperlipidemia, and generalized edema. Tx: corticosteroids
Minimal change disease
primary hyperaldosteronism caused by an aldosterone-secreting tumor of the adrenal gland. Patients usually have hypertension, hypokalemia, metabolic alkalosis and low rennin levels
Conn syndrome
associated with bilateral hemorrhagic necrosis of the adrenal glands due to meningococcal septicemia
Waterhouse-Friderichsen syndrome
Tetralogy of Fallot is a cyanotic heart disorder consisting of four heart defects
VSD, pulmonary stenosis, R vent. hypertrophy, and overriding aorta
Drug that can promote the release of factor 8 which could be helpful in mild cases of hemophilia A
Desmopressin
the most common cause of bloody diarrhea and the most common cause of Guillian-Barre syndrome. GBS presents as ascending weakness
Campylobacter jejuni
Primary biliary cirrhosis is autoimmune and classically presents in 40 y/o women. In males TOW
Primary sclerosing cholangitis normally presents in 40-50 y/o males
In Pulmonary embolism, what will be elevated indicating a hypercoagulable state
Fibrin degradation products
Wheezing after the ingestion of aspirin is due to
inhibition of COX which increases leukotriene synthesis and results in bronchoconstriction
It encodes the frataxin gene and causes defects in mitochondrial function. The patient presents with stumbling, kyphoscoliosis, “hammer toes” pes cavus, dysarthria, and nystagmus
Friedreich ataxia
Friedreich ataxia is an AR trinucleotide repeat of
GAA
Huntington’s –
CAG repeat
Fragile X Syndrome-
CGG repeats
Myotonic dystrophy-
CTG repeats
Kartagener’s syndrome-
situs inversus totalis
Gallstones are a common complication of
Crohn’s disease
Fabry’s disease is an x-linked lysosomal storage disease that results from a deficiency in______. It is a major disease of heart and kidneys
alpha-galactosidase
AR- lysosomal storage disease from a deficiency in alpha-glucosidase that results in cerebrosides. It presents with hepatosplenomegaly, mental retardation, and skeletal deformities
Gaucher’s disease
AR- lysosomal storage disease from a deficiency in beta-galactosidase that results in cerebrosides. It is more severe than Gaucher’s and is fatal early in life because of almost complete absence of sphingomyelin
Krabbe’s disease-
lysosomal storage disease with deficiency of sphingomylinase enzyme. It presents with MR and death by 2-3 years of age, failure to thrive, hepatosplenomegaly, cherry spots on macula
Niemann-Pick disease-
lysosomal storage disease associated with sphingolipdosis. There is a deficiency in the enzyme beta-hexosaminidase with an accumulation of gangliosides. The patient is normal until 5 months old and will die at 5 years old. Cherry red spots on the macula are seen
Tay-Sachs-
Brain tumors that are found mostly in adults and are characterized by densely packed cells in sheets with no distinct cytoplasmic borders, Psammoma bodies, or whorled calcifications are present throughout
Meningiomas
highly malignant brain tumor in children- contain sheets of small basophilic cells
Medullobastomas-
Brain tumor that contains cells with round nuclei and clear cytoplasm- “fried egg”
Oligodendroglioma
Brian tumors that are cystic masses filled with cholesterol crystals and viscous fluid
Craniopharygliomas
Brain tumor that consist of pseudopalisading, pleomorphic cell that border central areas of necrosis and hemorrhage
Glioblastoma multiforme
A cell with esinophilic cytoplasm, keratin pearls and intercellular bridges is the description for
squamous cell carcinoma
causes of increased anion gap metabolic acidosis
Aspirin overdose, end-stage renal failure, lactic acidosis, and DKA
Diseases that must be reported to the CDC include
HIV, AIDS, syphilis, gonorrhea, Chlamydia, measles, mumps, cryptosporidiosis, Lyme disease, TB, tetanus, diphtheria, rubella, pertussis, cholera, varicella, salmonella, shigella, and coccidiomycosis
presents like schizophrenia but last only 1-6 months
Schizophreniform disorder
Kimmelstiel-Wilson nodules
diabetic nephropathy
In type II diabetes, amyloid deposits develop on the
pancreas but not the kidney
the best ways to prevent kidney stones
A low sodium diet and hydration
most commonly presents in men over the age of 60 with lymphadenopathy and unexplained elevated white cell count
Chronic lymphocytic leukemia
has low leukocyte alkaline phosphatase and the peripheral smear shows excess grandulocytes
CML
associated with auto immune hemolytic anemia which is characterized by spherocytes, elevated reticulocytes and a positive Coombs test
CLL
Breast feeding does not provide sufficient______ levels to infants
vitamin D
Muscarinic-3 and Cholecystokinin receptors activate
Gq coupled proteins
Histamine-2 receptor activates
Gs protein subunit, stimulating adenyl cyclase
Somatostatin and Prostaglandin receptors activate
Gi subunit protein inhibiting adenyl cyclase and thereby decreasing the concentration of cAMP leading to the decreased secretion of hydrogen ions into the lumen of the GI system
a glycogen storage disease characterized by the deficiency of muscle glycogen phosphorylase. With this enzyme deficiency, glycogenolysis cannot occur properly. Patients present with exercise intolerance, myalgia, early fatigue, muscle cramps, and potential rhabdomyolysis
McArdle disease
a Glucose-6-phosphate deficiency, patients present with hypoglycemia, hepatomegaly, lactic acidosis, and growth failure
Von Gierke disease
deficient in Pompe disease, usually resulting in death at an early age
Acid maltase
Liver glycogen phosphorylase is deficient in
Hers disease
liver biopsy of Reye syndrome is characterized by
reversible fatty changes
the deficient enzyme in Niemann-Pick disease
Sphingomyelinase
Tay-Saches disease is caused by a deficiency of
hexosaminidase A. Absence of this key enzyme leads to accumulation of GM2 ganglioside within the central nervous system
Gaucher disease is a deficiency of
B-glucocerebrosidase
the deficient enzyme in Fabry disease
Alpha-galactosidase A
Emphysema is characterized by
increased lung compliance and decreased elasticity
a hypertrophic, protein-losing gastropathy often associated with abdominal pain, diarrhea, weight loss, and edema
Menetrier disease
The V/Q ratio is normally higher at the apex compared to the base of the lungs. A high ratio is consistent with a ______ ______ and a low ratio is consistent with airway ______
pulmonary embolism and a low ratio is consistent with airway obstruction
presents in adulthood as enlarged bones with lytic and sclerotic lesions. Defective bone remodeling is the cause
Paget disease of the bone
In drugs that follow first order kinetics, steady state is achieved in
4 to 5 half lives
diagnosed by a negative NBT staining test. This disease is caused by a defect in NADPH oxidase which impairs oxygen dependent microbial killing in phagocytes
Chronic granulomatous disease
the tumor marker in over 80% of women with ovarian cancer
CA-125
elevated in 71-93% of pancreatic cancers
CA 19-9
IL secreted by macrophages and is a pyrogen. It also stimulates T-cells, B-cells, neutrophils, fibroblasts, and epithelelial cells for growth and differentiation
IL-1
IL secreted by helper T-cells to activate macrophages and CD8 T-cells
IL-2
IL secreted by T-cells to support bone marrow cells
IL-3
IL production of Th2 cells
IL-4
IL production of antibodies by B-cells
IL-5
IL that is the primary chemotactic factor for neutrophils
IL-8
Drug pregnancy category A
safe from human studies
Drug pregnancy category B
animal studies say safe
Drug pregnancy category C
no studies therefore use when benefits outweigh risk
Drug pregnancy category D
adverse effects but benefits may outweigh risk
Drug pregnancy category X
Don't even think of using
"spike and dome" appearance of basement membrane
Membranous glomerulonephritis
IgA nephropathy
Berger's disease
Wegener's granulomatosis
c-ANCA
empty looking nuclei (orphan Annie's eyes) and psammoma bodies; most common thyroid cancer
Papillary thyroid carcinoma
thyroid cancer related to dietary iodine deficiency, small cells filled with colloid
Follicular thyroid carcinoma
neuroendocrine tumor of the C cells that secrete calcitonin; MEN2A and MEN2B
Medullary thyroid carcinoma
the most common cancer to metastasize to the thyroid gland
Renal cell
Membranoproliferative glomerulonephritis
"train track" appearance
Egg based vaccines
influenza, MMR, and yellow fever
Marker to track melanoma
Serial S-100
tumor marker for colorectal cancer
CEA
Oligoclonal bands in the CSF are diagnostic for
multiple sclerosis
Antibody associated with Hashimoto's thyroiditis
Antimicrosomal
Antibody associated with scleroderma and more commonly with CREST syndrome
Anticentromere
Antibody associated with primary biliary cirrhosis
Antimitochondrial
Antibody associated with mixed connective tissue disease
Antiribonucleoprotein a.k.a. anti-U1 RNP
Antibody associated with Celiac disease
Antiendomysial