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79 Cards in this Set

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