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a 30 year old patient presenting with a history of spondylitis and degererative joint disease, slight blackish color to his ears. Lab findings are significant for urine that turns black upon standing. Enzyme deficiency |
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Definition
Homogentisic acid oxidase |
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The cause of Homogentisic acid oxidase |
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Definition
autosomal recessive trait inherited from both parents |
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Child comes into the office with his parents because his teacher suspect mental retardation. Physical exam reveals enamel hypoplasia, growth retardation, microcephaly, there is an unpleasant odor that remains. Diagnosis? |
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Is caused by a gene defect causing the inability to not break down BCAA's |
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Definition
Maple Syrup Urine Disease |
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Definition
leucine, isoleucine, and valine |
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Definition
phenylalanine hydroxylase |
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Simvastatin lowers serum cholesterol by inhibition of what enzyme? |
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how man kilocals are in 1 g of carbohydrate |
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Lead poisoning what enzyme is getting blocked |
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Someone with bilateral cataracts. Which of the following enzymes catalyzes the production of sorbitol from blood glucose? |
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6 month old has hypotonia, hyperacusis, and no organomegaly. Bright red coloration of the central macula with surrounding retinal pallor. Accumulation of GM2 ganglioside. Diagnosis? |
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Boy is brought to the clinic with hepatomegaly, severe hypoglycemia, hyperlipidemia, and hyperuricemia. He is diagnosed having a glycogen storage disease type 1a (von Gierke). What enzyme deficiency |
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Elder patient showing, global demineralization on radiograph and is diagnosed with osteoporosis. Which of the following supplements has been shown to help maintain bone density with aging? |
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ATP binds to what in muscle |
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Definition
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ATP binding to myosin does? |
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Definition
causes the dissociation of myosin from actin and low energy conformation |
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Definition
strengthens clotting by cross linking newly formed fibrin threads |
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What factors are part of the extrinsic pathway? |
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Definition
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Vitamin K dependent coagulants? |
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When tissue factor is exposed what factor is activated? |
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When both valves are closed, no blood is going anywhere? what is this called |
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Definition
Isovolumic can be during early systole (isovolumic contraction) or diastole (isovolumic relaxation) |
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Term
What does depleted 2,3 DPG do to the hemoglobin oxygen dissociation curve |
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Definition
Shifts to the left, increasing the affinity |
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Term
What causes shifts to the right on the hemolglobin ozygen dissociation curve |
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Definition
C02 altitude/acid DPG Exercise Temperature |
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Carbon monoxide poisoning will cause oxygen dissociation curve to move to the..... |
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Definition
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Loading of O2 is facilitated when dissociation curve shifts... |
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Definition
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unloading of O2 is facilitated when dissociation curve shifts... |
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Definition
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Hemoglobin has 240x more affinity to........than oxygen |
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For someone experiencing a heart attack. A 50% occlusion of the left main coronary atery will do what to the blood flow in that artery? |
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Definition
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Term
Poiseuille's Law equation |
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Definition
8nl/pie (r^4) = resistance n=viscosity |
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Term
Laplaces law of alveoli states that what sized alveoli will have larger collapsing pressures |
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Definition
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Laplaces law in alveoli equation |
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Definition
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Why do smaller alveoli not collapse into bigger ones? |
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Definition
Surfactant decreases surface tension and works better with smaller alveoli |
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What is surfactant produced by |
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Definition
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An infant has difficulty swallowing while breastfeeding. The cranial somatic dysfunction is at what? |
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Following a bar fight, a patient suffers fracture of the occipital bone extending superiorly from the foramen magnum compromising what nerve |
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Definition
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Sensation of the tongue is what nerves |
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Definition
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Taste of the tongue is from: |
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Definition
chorda tympani nerve from CN 7 |
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Term
severe nausea and vomiting following 4 contrast medium probably stimulated a chemoreceptive trigger zone located in |
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Definition
area postrema of floor of 4th ventricle |
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What causes weakness of the serratus anterior muscle causing winged scapula. |
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Lat dorsi muscle problems following surgery to remove lymph nodes. Compromised what nerve |
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Poorly fit crutches affect what nerve causing wrist drop |
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During delivery, a baby's neck suffers a violent stretching of the brachial plexus during shoulder dystocia. What part of the Brachial plexus is injured? |
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What nerve can be damaged during thyroid surgery, lung cancers (pancoast), aortic arch aneurysms, enlarged lymph nodes |
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Falling on oustretched hand can produce what fracture of the wrist? |
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Definition
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A fracture found in a child only on one side of the cortex |
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Definition
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Term
enzyme deficiency in MSUD |
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Definition
a - ketoacid dehydrogenase |
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