Quizbowl Diseases I

“shaking palsy”

Parkinson’s Disease

levodopa

Pakinson’s Disease

result of dopamine defficiency

Parkinson’s Disease

shuffling gait, cogwheeling

Parkinson’s Disease

begins in anterior olfactory nucleus

Braak stage

Parkinson’s Disease

treated by stimulation of GPI

Parkinson’s Disease

Lewy bodies

Parkinson’s Disease

Hoehn an

LOUD treatment

Parkinson’s Disease

beta-amyloid plaques

Alzheimer’s Disease

mutations in gamma-secretase complex

Alzheimer’s Disease

ApoE4 allele

Alzheimer’s Disease

Congo Red staining

Alzheimer’s Disease

Pittsburgh Compound B

Alzheimer’s Disease

mutations in presenilin-1 gene

Alzheimer’s Disease

mucus buildup in lungs

Cystic Fibrosis

sweat test

Cystic Fibrosis

Cl- cannot pass thru membrane

Cystic Fibrosis

male infertility

Cystic Fibrosis

cannot secret pancreatic enzymes

Cystic Fibrosis

neonatal intestinal blockage

Cystic Fibrosis

PDZ domain

Cystic Fibrosis

chronic Burkholderia cepacia infections

Cystic Fi

Eugen Bleuler

Schizophrenia

“dementia praecox”

Schizophrenia

increased dopamine in mesolimbic pathway

Schizophrenia

deletion in COMT gene

Schizophrenia

Barr bodies

Trisomy

Klinefelter Syndrome

Trisomy

Patau Syndrome

Trisomy

Edwards Syndrome

Trisomy

prevented removal of cohesin

Trisomy

duplication of CREBBP

Trisomy

Down’s Syndrome

Trisomy

Brushfield spots

Down’s Syndrome

epicanthic folds

Down’s Syndrome

Thalassemia

Anemia

“pernicious” form

Anemia

diagnosed by MCV

Anemia

Reticulocyte Production Index (RPI)

Anemia

Sickle Cell variety

Anemia

red blood cells have crescent shape

Sickle Cell Anemia

resistance to malaria

Sickle Cell Anemia

Senegal and Cameroon varietes

Sickle Cell Anemia

Lemuel Diggs

Sickle Cell Anemia

wasting of skeletal muscle

Muscular Dystrophy

fibrosis and excess adipose tissue

Muscular Dystrophy

Becker and Duchenne X-linked varietes

Muscular Dystrophy

elevated creatine kinase

Muscular Dystrophy

Gowers’ sign

Muscular Dystrophy

vibrio bacteria

Cholera

people w/ CF have advantage against

Cholera

CTXphi

Cholera

binds to GM1 gangliosides

Cholera

CCR5 gene

AIDS

zidovudine

AIDS

amprenavir/nelfinavir

AIDS

deficiency in phenylalanine hydroxylase

PKU

mutation in PAH enzyme

PKU

chromosome 12

PKU

Folling’s Disease

PKU

HPLC test

PKU

also called consumption

Tuberculosis

Mycobacterium causes

Tuberculosis

Mantoux test

Tuberculosis

isoniazid and rifampin counter

Tuberculosis

mycolic acid

Tuberculosis

linked to HIV

Tuberculosis

“Atopic” form

Asthma

Diagnosed w/ peak flow meter

Asthma

Churg-Strauss condition

Asthma

Ashkenazi Jews

Tay-Sachs Disease

unable to properly hydrolyze gangliosides

Tay-Sachs Disease

Hexosaminidase A/B

Tay-Sachs Disease

1278insTATC

Tay-Sachs Disease

“hemozoin” forms

Malaria

Cells experience rosetting

Malaria

Does not affect those w/ favism

Malaria

“Chorea”

Huntington’s Disease

Excess glutamine residues

Huntington’s Disease

“akinetic rigid” form

Huntington’s Disease

Destruction of collagen-containing membranes

Arthritis

Swan’s neck

Arthritis

Z-thumb deformities

Arthritis

“Aseptic” type

Meningitis

“Cryptococcal” type

Malaria

Rapidly evolving petechial/purpuric rashes

Meningitis

Affected Stephen Hawking and Lou Gherig

ALS

rapid muscle atrophy

ALS

Often die to pneumonia

ALS

CK-MB Test

Heart Attack

Two isoforms of creatine kinase measured

Heart Attack

Sgarbossa’s Criteria

Heart Attack