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79 Cards in this Set
- Front
- Back
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What growth factor is associated with SIS?
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PDGF-Beta
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What growth factor is associated with HST-1?
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FGF
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What growth factor is associated with INT2?
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FGF
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What growth factor is associated with ERB?
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EGF receptor
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What proteins is associated with RAS?
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GTP binding
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What protein is associated with ABL?
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Tyrosine Kinase
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What protein is associated with c-myc?
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Transcriptional Activators
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What cancers are associated with RAS?
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Neurofibromatosis, Colon, lung, pancreatic, bladder, kidney, melanoma, hematologic malignancy
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What cancers are associated with ABL?
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CML, AlL
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What cancers are associated with RAS?
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Melanomas
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What cancers are associated with c-myc?
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Burkitt's Lymphoma
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What cancers are associated with n-myc?
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Neuroblastoma, small cell carcinoma of the lung
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What cancers are associated with l-myc?
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Small cell carcinoma of the lung
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What cancers are associated with cyclin d?
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Mantle Cell lymphoma, breast, esophageal cancer
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What cancers are associated with CDK4/CyclinE
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Breast cancer, glioblastoma, melanoma, sarcoma
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What cancers are associated with RB?
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Retinoblastoma
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What cancers are associated with p53?
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Various tumors
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What cancers are associated with p16INK4a?
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Melanoma
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What cancers are associated with APC?
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Familial adenomatous polyposis/colon cancer
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What cancers are associated with MEN1?
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Endocrine neoplasias
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What cancers are associated with MSH?
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Hereditary nonpolyposis colon cancer
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What cancers are associated with PATCH
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nevoid basal cell carcinoma
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How does a mutation in BRCA cause cancer?
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Lack of DNA repair
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How does a mutation in TGF-beta cause cancer?
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Growth inhibition
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How does a mutation in RAS cause cancer?
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Inhibits RAS and p21 cell cycle inhibition
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How does a mutation in APC cause canceR?
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lack of inhibition of signal transduction
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How does a mutation in WT-1 cause cancer?
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WT-1 is inolved in nuclear transcription
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How does a mutation in p16INK4a cause cancer?
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Lack of inhibition of CDKs
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What is the problem in Fanconi's syndrome?
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Impaired homologous pairing
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What is the problem in xeroderma pigmentosum?
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Impaired excision repair
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Glucoceribrocidase deficiency?
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Gaucher's Disease (glucocerebroside accumulates)
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Hexosaminidase-A deficiency?
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Tay-Sachs disease (GM-2 accumulates)
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alpha-L-iduroninase
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Hurler's Syndrome (dermatan sulfate and heparan sulfate accumulate)
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Defiency in sphingomyelinase?
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Niemann-Pick disease
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Phenylalanine hydroxylase deficiency?
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PKU
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Homogentistic oxidase deficiency?
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Alkaptonuria
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Lysosomal glucosidase deficiency?
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Pompe disease
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Debranching glucosidase deficiency?
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Cori disease
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Glucose-6-phosphatase deficiency?
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von Gierke's disease
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Muscle Phosphorylase deficiency?
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McArdle syndrome
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Which glycogen storage diseases have glycogen accumulation in the heart?
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Pompi and Cori diseaes
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What causes death in Hurler syndrome?
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Lesions of heart valves, narrowed coronary artery
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Which disease do you see balloon cells?
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Hurler syndrome
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Where do you see balloon cells in teh body?
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Liver and spleen
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Which disease do you seen "foamy histiocytes" in? Where are they?
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Niemann-Pick disease
Liver, spleen, lymph nodes, skin |
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Where do Gaucher's cells accumulate? (in Type I)
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Liver, spleen, lymph nodes, bone marrow
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Where does GM2 accumulate in Tay-Sachs disease?
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Cells of mononuclear phagocyte system
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Mutation in CF?
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3 bp deletion on long arm of chromosome 7
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What is caput succedameum?
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accumulation of interstital fluid in scalp of soft tissue -> circular areas of edema, congestion, and swelling
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IWhat is cephalohematoma?
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Insignificnat, unless accompanied by skull fracture... damage during brith
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If there is a transplacental infection, how does it get to the fetus?
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Through chorionic villi
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Where do neuroblastic tumors arise from?
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Adrenal medula, and sympathetic ganglia
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Tests for classic SLE?
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+ anti-ds-DNA
+ ANA + syphilis test + anti-Sm-DNA |
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Tests for drug-induced SLE?
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+ ANA
anti-histone DNA no anti-ds-DNA |
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Chronic discoid lupus sx?
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Limited to cutaneous lesions that mimic SLE
Ig and C3 are on dermal/epidermia junction |
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Scleroderma tests?
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+ ANA
+ anti-centromere + anti-Scl-70 |
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Sjogren's syndrome tests?
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+ anti-RNA
+ anti-SS-B + Rh factor hypergammaglobinemia |
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Mixed CT Disease tests?
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+ anti-nRNP
- anti-Sm - anti-ds-DNA |
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Polymyositis test?
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Increased CK
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Symptoms of scleroderma?
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CREST
Pulmonary fibrosis Esophageal dysfunction HTN Renal failure Restrictive cardiomyopathy Arrythmias |
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Symptoms of SLE?
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Reynaud's
Malar Rash Pulmonary fibrosis Endocarditis Neuro/Psych manifestations Visual changes Glomerular problems Immune complex vasculitis Serosal inflamation |
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Polyarteritis nodosa? Signs, symptoms?
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Segmental fibrinoid necrosis in walls of small and medium arteries
ABdominal pain, HTN, uremia, polyneuritis, asthma, urticaria, splenomegaly , proteinuria, chest pain, cough, dyspnea, hemoptysis |
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What is poyarteritis associated with sometimes?
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Hep B
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Morphology of anyloidosis?
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Amyloid is extracellular
Appears as accumulations near the BM Eosinophilic if stained with H&E Stained with Congo Red to show birefringence (apple green) under polarized light |
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Cause for primary amyloidosis?
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Deposition of Ig light chains (AL protein - amyloid light chain protein)
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What is primary amyloidosis associated with?
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Multiple Myeloma
Waldenstrom macroglobinemia (IgM only!) |
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Where do the amyloids in primary amyloidosis come from?
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Serum light chains
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What organs does primary amyloidosis affect?
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Heart, GI, tongue, muscle
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What diseases is primary amyloidosis associated with?
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Multiple myeloma, Waldenstrom hypergammaglobinemia
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Where do amyloids in secondary amyloidosis come from?
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They are released during chronic inflammatory processes.
Precursor is Serum Amyloid Associated protien (SSA) |
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What diseases is secondary amyloidosis associated with?
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RA, osteomyelitis, syphilis
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What organs are involved in secondary amyloidosis?
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Spleen, Kidneys, adrenals, pancreas, lymph nodes, liver
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What amyloid is Portuguese type of polynephropathy associated with?
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Transthyretin
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What amyloidoses are associated with transthyretin?
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Portuguese type of polynephropathy
Senile amyloidosis |
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What amyloid is associated with Alzheimer's Disease?
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A4 (amyloid-Beta protein)
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What amyloid is associated with Familial Mediterranean Fever?
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Type similar to secondary amyloidosis
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What is the clinical picture of Familial Mediterranean Fever?
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Episodic fever
Polyserositis |
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What amyloid is associated with diabetes mellitus, type II?
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Amylin or islet amyloid polypeptide (associated with either insulin or glucagon)
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What type of amyloid is associated with senile amyloidosis?
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Transthyretin
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