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MCM Final > Diseases > Flashcards

Diseases Flashcards

1
Q

Gout

A

accum of uric acid, painful joints

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2
Q

Severe combined immunodeficiency disease (SCID)

A

def in adenosine deaminase, accumulation of deoxyadenosie and deriv (dATP), loss of immune system- no T or B cells

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3
Q

Immunodeficiency diseases

A

def in purine nucleoside phosphorylase, accum of purine nucleotides, dec prolif/toxicity of T cells

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4
Q

Lesch Nyhan syndrom

A

def in HGPRT, accum of purines and uric acid, mental retardation, self mutilation, gout

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5
Q

Hereditary orotic aciduria

A

def in UMP synthase, accum of orotic acid, growth retardation

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6
Q

Xanthinuria

A

def in xanthine oxidase, accum of xanthine and hypoxanthine, stones

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7
Q

Exercise induced myopathy

A

def in AMP deaminase, fatigue and muscle cramping

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8
Q

Thalassemias

A

point mutation in TATA box

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9
Q

Sickle cell anemia

A

Missense mutation (GTG replaces normal GAG) in sickle cell gene on B-globin allele, agg of insoluble fibers on deoxygenated RBCs changing the shape of RBC to sickle shape

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10
Q

Streptomycin

A

distorts structure of 30S, interferes with initiation of translation, misreading of mRNA, can cause permanent hearing loss, used to treat TB

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11
Q

tetracyclines

A

interact with small ribo subunits, block access of aminoacyl tRNA to mRNA complex- cant elongate

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12
Q

Chloramphenicol

A

inhib pro peptidyltransferase, can also inhib mito peptidyl- if in high concentrations

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13
Q

Clindamycin and erythromycin

A

irrev bind to 50S of bacterial ribo- inhibi translation

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14
Q

Diphtheria Toxin

A

inact euk elongation factor, eEf-2, prevent transla

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15
Q

Ricin

A

in seeds of castor oil plant, highly potent toxin, contains N glycosylase activity- cleavage of glycosidic bonds w/in 60S, inactivated ribo

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16
Q

Scurvy

A

vit c def, less stable collagen (not stabilized by hydroxylation), dec RBC, gum disease, poor wound healing

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17
Q

Klienefelter syndrome

A

47, XXY (48XXXY or 48 XXYY or 49XXXYY) tall feminine like stature, hypogonadism (infertile), learning deficits

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18
Q

turner syndrom

A

45, X, short stature, streak gonads, no puberty, infertile, some learning difficulties, webbed neck, wide chest, edema

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19
Q

XYY syndrome

A

tall male, normal sex dev and intelligence, freq behavioral problems

20
Q

Trisomy X

A

tall female, normal sex dev, some learning difficulties, occasional behavioral problems

21
Q

tumor

A

tissue with abnormally high cell number (neoplasm), no metas properties

22
Q

cancer

A

malignant tumor that invades other tissues (metastasize)

23
Q

founder effect- old order amish

A

ellis van crefeld syndrome (dwarfism and polydactily)

24
Q

founder effect- small encalve in Quebec

A

I cell disease (lysosomal storage disease), type I tryosinemia (deficient Tyr degradation)

25
Q

founder effect- ashkenazi jews

A

tay sachs disease, gaucher disease (sphingolipidosis, lysosomal sotrage diseases)

26
Q

autosomal recessive diseases

A

cystic fibrosis (chloride ion channel def), sickle cell disease (hemoglobin mutation), phenylketonuria (phe meta def), tay sachs/gaucher disease (lysosomal glycolipid degrad def)

27
Q

incomplete dominant inheritance disease

A

achrondroplasia- hetero isnt as bad as homo

28
Q

achondroplasia

A

gain of fx mut in fibroblast growth factor receptor 3, hetero: abnormal bone growht, short stature, large hear, normal intell, normal lifespan, homo- more severe bone def, early death

29
Q

neurofibromastosis type 1: inher, cause, pheno

A

incomplete dominance on auto dom, 50% due to new mutations, usual pheno: cafe au lait spots, fleshy benign skin tumors, less freq (more severe): malignant peripheral nerve sheath tumors

30
Q

autosomal dominant diseases

A

familial hypercholesteremia, achondroplasia, huntington disease, hereditary breast and ovarian cancer, familial adenomatous polyposis (colon cancer), Rb, neurofibromatosis type 1

31
Q

x linked recessive diseases

A

hemophilia A and B (coagulation factor 8 and 9 def), glu 6 P dehydrogenase def (acute hemolytic anemia), ornithine transcarbamoylase def (urea cycle), duchenne muscular dystrophy (dystrophin gene defects)

32
Q

x linked dominant disease

A

rett syndrome, fragile x syndrome, vitamin D resistant rickets

33
Q

rett syndrome

A

x linked rec, male lethality, developmental stagnation, intell dis, flapping movement of hand, female survive- x inactviation

34
Q

pseudoautosomal inheritance

A

dyschondrosteosis (short stature)

35
Q

angelman syndrome

A

delet in maternal chromo 15, loss of UBE3A function, intellec dis, happy demeanor, balance disorder, speech impairment

36
Q

prader willi syndrome

A

delet in paternal chormo 15, loss of polycistronic RNA or other genes, intellec dis, obesity, short stature, hypogonadism

37
Q

Huntington disesase

A

auto rec, neurodegenerative disorder, CAG repeats in coding region of huntingtin gene, over 35 repeats- disease (under 35 normal), larger # of repeats- earlier onset

38
Q

fragile X syndrome

A

x dom, excessive CGG repeats in promoter of FMR1 gene and silence gene, FMR1- translational reg in neurons, X chromo condensation defect

39
Q

Friedreich ataxia

A

auto rec, excess GAA in intron of frataxin gene- mito protein invovled in Fe meta, impair transc elongation

40
Q

friedreich ataxia symptoms

A

spinocerebella ataxia- incoord of limb movement, impairment of position and vinratory senses, speech impairment, scoliosis, cardiomyopathy

41
Q

mitochondrial disease

A

OXPHOS diseses such as Leber hereditary optic neuropathy (NADH reductase def)- optic atrophy, loss of vision

42
Q

venous thrombosis: susceptibility genes, environ factors

A

multctorial disease, ifaexces blood clot formation, susceptibillity genes: factor V and prothrombin (gain of fx mut), environmental factors- oral contraceptives (estrogen), smoking, prolonged inactivity, trauma

43
Q

type I diabetes: susceptibility genes, environ factors

A

multifactorial, autoimmune destruc of panc b cells- insulin def, susc: major histocompatibility complex (MHC) loci (HLA DR), environ: early viral infections, early exposuure to cows milk

44
Q

coronary artery disease: susceptibility genes, environ factors

A

mutifactorial, susc: apolipoprioteins, LCL receptor, coagulation factors, angiotensin converting enzymes

  • many genes act through HT, obesity, diabetes
  • environ: diet, smoking, lack of movement
45
Q

late onset alzheimers: susceptibility genes, environ factors

A

susc gene: apolipoprotein E (e4 isoform)- in amyloid precipitates
-risk factors: age, sex (female), brain injury

46
Q

lung cancer: susceptibility genes, environ factors

A

susu: aryl hydrocarbon hydroxylase, envir: cigarette smoke

MCM Final (4 decks)

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