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47 Cards in this Set
- Front
- Back
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Nieman- Pick Dz enzyme dysfxn
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sphingomyelinase
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Tay-Sachs Dz enzyme deficiency
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hexosaminidase
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difference in neimann-pick and tay-sachs
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NP has hepatosplenomegaly
both have cherry red macula |
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Fabry's Dz presents with?
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angiokeratomas
red-purple rash kidney/heart failure |
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Fabry Dz enzyme deficiency
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alpha-galactosidase
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Gaucher's Dz deficient in?
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Beta- glucosidase
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Gaucher vs. NP & Tay-Sachs
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Gaucher has no cherry red macula
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PKU enzyme deficiency
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Phenylalanine hydroxylase
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pku presentation
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musty odor urine
hypopigmentation MR |
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urine oxidizes to a black color when left standing. Enzyme deficiency?
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homogentisate oxidase
(alkaptonuria) |
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Alkaptonuria will present how?
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black urine
blackened connective tissue (cartilage) degenerative arthritis |
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Maple syrup urine dz enzyme deficiency?
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alpha-ketoacid Dehydrogenase
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maple syrup urine dz presentation
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maple syrup smelling urine
MR if not treated early |
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maple syrup urine dz Tx?
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avoid branched chained amino acids
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homocystinuria enzyme deficiency
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cystathionine synthase deficiency
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homocysteinuria presents how?
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MR
lens dislocation increased Coronary Artery Dz increased platelet aggregation and endothelial damage |
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Tx for homocysteinuria?
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restrict methionine
Lots of B6- maximize what little cystathionine synthase is available B12/Folate- convert homocysteine to methionine to reduce homocysteine in blood |
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Fructose intolerance deficiency?
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aldolase B
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Von Gierke Dz enzyme defieciency
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G-6-P phosphatase
cannot revert G-6-P to glucose so hypoglycemia will ensue along with a large liver bc of the backup of glycogen |
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Hurler Dz
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corneal clouding
MR |
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Hunter
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no clouding
MR |
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Scheie
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corneal clouding
normal intelligence |
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m/c lung ca linked to smoking
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squamous cell CA
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does squamous cell produce cavitary lesions? what is the secretion it is linked to?
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yes
PTH-like hormone |
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squamous cell microscopic finding?
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keratin pearls
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m/c lung ca linked to nonsmokers?
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adenocarcinoma
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most aggressive lung ca?
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small cell ca
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SCC is linked to secretion of ectopic what? may lead to what clinical manifestation?
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ACTH, ADH
lambert-eaton syndrome (muscle weakness d/t not being able to produce enough ACh) |
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Large Cell Lung CA microscopic findings. What part of lung is it found?
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pleomorphic giant cells w/leukocyte fragments in cytoplasm
periphery |
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what are the central lung CA?
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Small Cell CA and Squamous cell CA
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patient presents with severe diarrhea and facial flushing, also has wheezing and excessive salivation. lab indicates high 5-HIAA
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Carcinoid syndrome
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m/c place lung mets to
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brain, bone, liver
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what are some complications of lung CA?
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S- SVC syndrome
P- Pancoast Tumor H- Horner's syndrome E- Endocrine paraneoplasia R- Recurrent Laryngeal n. injury (Hoarseness) E- Effusions (pleural and pericardial) |
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How will lung cancer show up on X-ray?
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coin lesion
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Pathogneumonic for Asbestosis microscopic findings?
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Ferrunginous bodies in lung with ivory-white PLEURAL plaques
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Asthma sputum findings?
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Curschman spirals and Charcot-Leyden crystals
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m/c breast cancer?
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invasive ductal CA
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single, palpable somewhat painful mass
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fibroadenoma
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bilateral lumps, painful with menses
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fibrocystic changes
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leaf-like breast tumor
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phylloides
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bloody or serous nipple discharge
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intraductal PAPILLOMA
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rubbery and unpalpable bilateral masses in breast
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invasive lobular CA
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involuted and ulcerated nipple
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Paget's Dz of the nipple
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malignant lesions in the breast have what characteristic on mammo?
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calcifications
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invasive e.coli responsible for dysentery
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EIEC
EHEC |
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traveler's diarrhea, no invasion, no blood
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ETEC
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invasive organism, causes necrosis and inflammation
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EIEC
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