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267 Cards in this Set
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Define:
Trisomy |
2n+1
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Define:
Monosomy |
2n-1
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What is karyotype notation?
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# of chromosomes, sex chromosomes, abnormality
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Define:
Down's Syndrome and what causes it |
47, XX, +21
caused by meiotic nondisjunction event |
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Define:
Klinefelter's syndrome |
males with extra X chromosome (XXY)
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Define:
Turner's syndrome and how patients present |
XO, lack of a sex chromosome
short w/ webbed neck |
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What sex chromosome aneuploidy causes increased aggression?
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XYY
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What is microdeletion?
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a chromosomal deletion spanning several genes that is too small to be detected under the microscope
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What is contiguous gene syndrome?
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microdeletions that span two or more genes along a chromosome
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What type of chromosome anomalies:
Miller-Dieker Willams Wlk-Hirshhorn Smith-Magenis |
contiguous gene synderom (microdeletion)
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What kind of chromosomal anomalies:
Beckwith-Wiedemann Charcot-Marie-Tooth-1 Peliazeus-Merzbacher |
Duplication
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What does routime cytogenetic analysis show and detect?
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Monosome, trisomy, big deletions, duplications, rearrangements
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What does FISH detect?
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microdeletions and duplications
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What clinical symptom can subtelomeric FISH cause?
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mental retardation
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What is a nonsense mutation?
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codon changed to stop codon
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What is a splice site?
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nucleotides involved inrecognition sequence for slpicing of exons
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What is a missense mutation?
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one nucleotide changed to change the AA coded
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What types of conditions are usually autosomal recessively inherited?
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mutations that cause loss of function, reducation in protein or activity
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proteins can compensate with <50% loss of function
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What are the three types of diseases that are AR?
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lysosomal storage diseases
amino/organic acidopathies Degenerative brain diseases sickle cell cystic fibrosis |
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What kinds of genes are autosomal dominant ?
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structural, rate-limiting regulatory proteins
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What kinds of genes when mutated cause AD inheritance of the disease?
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structural, rate-limiting proteins, suppressor genes, gain of function genes, and loss of function genes
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What are homobox genes?
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they are cell signaling genes acive during developemtn and responsible for cell signaling and organ shape/function.
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What is Lissencephaly, how is it inherited?
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lack of gyri due to AD mutation of Ch17 or XLAG
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What causes CCHS?
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congenital Central Hypoventilation Syndrome due to polyalanine repeat expansion
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What is the downfall of FISH?
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you need to know exactly what you're looking for
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What can karyotyping detect?
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Monosomy, Trisomy, big deletions, duplications, and rearrangements
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What is the difference with X-linked inactivation vs AR inheritence?
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X-linked leads to 50% of cells with good gene and 50% with bad vs AR where each cell will only synthesize 50% of protein
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What are the two X-linked lethal diseases?
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Rett's syndrome and Bilateral periventricular nodular heterotopia (BPNH)
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What are the main X-linked inheritances?
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Hemophilia, Duchenne's, Fragile X, OTC deficiency
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What is a protomutation?
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alleles likely to become unstable from TNRs
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What is a premutation?
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allels unstable on transmission without causing disease in the carrier
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What is myotonic dystrophy?
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AD with TNR anticipation where muscles get stuck and stiffen spontaneously
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What is anticipation concerning TNRs?
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worsening of disease over generations or increase in frequency due to unstable TNRs
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How many repeats of CTG may cause mutations in myotonic dystrophy?
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50 repeats may cause disease but typically 200+
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What is the protein affected by TNRs in myotonic dystrophy?
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myotonin kinase
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What is Huntington's disease
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AD with anticipation CAG repeats in exon 1
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How many repeats of CAG causes Huntington's?
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40+
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What does the CAG repeat in Huntington's code for?
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polyglutamine stretch with longer repeats being more toxic
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What is the sex bias for expansion in myotonic dystrophy?
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paternal = small expansions
maternal = large expansions |
severe congenital form only via maternal inheritance
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How does the DM1 or DM2 gene cause gain of function in myotonic dystrophy?
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gain of function; mRNA interacts with RNA and DNA binding proteins to interfere with gene processing
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What is the sex bias for expansion in Huntington's disease?
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paternal only
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What are the characteristics of juvenile form of Huntington's?
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>60 repeats always inherited from father
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How does the polyglutamine stretch in Huntington's cause toxicity?
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It causes abnormal toxic protein interactions
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How is Friedreich's Ataxia inherited?
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AR GAA expansions in intron of Frataxin gene
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What gene is affected in Friedreich's Ataxia?
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GAA expansion in intron of FRATAXIN gene
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friedreich is from GA
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What is the premutaion, late onset, and Typical GAA expansion for FA?
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40-120;
120-800 for late onset FA; 800+ is typical FA |
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What do patients with FA have increased chances of with >500 repeats and >800 repeats?
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cardiomyopath >500
diabetes>800 |
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What is the mechanism for FA that causes the disease?
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Loss of function of a mitochondrial protein involved in iron processing (maternally dependent);
repeat interferes with transcription and is size-dependent |
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What is Fragile X?
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X-linked CGG repeat in promoter of FMR1; loss of function mechanism
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What is the premutation and full mutation repeat numbers for fragile X?
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55-200 for FXTAS and 200+ for FXS
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As the number of CGG repeats repeats, what occurs with FXS transmission?
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increased number of family members get the disease
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What is the sex bias for Friedrich's Ataxia?
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none known
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What is the sex bias for fragile x?
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maternal; only a woman can pass a full mutation to offspring because sperm do not tolerate the mutation.
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What is the difference between FXS and FXTAS?
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FXS is loss of function; 200+
FXTAS is gain of function and is premutation 55-200 |
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What is genomic imprinting?
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genes that are specifically maternally or paternally derived and only one is expressed
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What is uniparental disomy?
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when a person inherits two copies of an imprinted chromosome from the same parent
Defined by inactivated gene |
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What is Prader-Willi syndrome?
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Paternal syndrome where no chromosomes from father; hypotonia with failure to thrive and later obesity.
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PRader = Paternal missing
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What is Angelman syndrome?
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maternal deletion with developmental delay, laughing spells, seizures
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What gene is deleted in PWS and AS?
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Chromosome 15; wither maternal or paternal disomy for 15.
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How are all respiratory change mutations inherited?
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Maternally via mitochondrial inheritance.
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What is Kearns-Sayre syndrome?
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chronic progressive external opthalmoplegia
- a sporadic mutation of mitochondrial inheritance |
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What is heteroplasmy?
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when some mtDNA has some of the mutation and symptoms depend on % of abnormal mtDNA
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What type of inheritance exhibits bottlenecking?
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mitochondrial inheritance
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What determines the symptoms in diseases that exhibit mitochondrial inheritance?
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1) tissue threshold
2) % of mutation inherited 3) distribution of the mutation |
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Why are mitochondrial mutations more frequent than genomic mutations?
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they have poor repair mechanisms
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What is mosaicism?
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when some cells have a mutation and others don't in a single individual.
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What is germline mosaicism?
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mutation occuring in germline cells but not in somatic cells
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When does germline mosaicism occur?
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post-zygotically during embronic development affecting cells to form eggs/sperm
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What disease is commonly caused by germline mosaicism?
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Duchennel Becker dystrophy
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Where does unequal crossover commonly occur?
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at sites where homologous sequences are repeated in DNA near each other on the chromosome
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What is CMT?
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charcot-Marie-Tooth where unequal crossover yields a duplication of PMP20gene causing neuropathy
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What is HNPP?
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where deletion ofPMP20 gene causes hereditary neuropathy with pressure palsies
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What is incomplete penetrance?
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where mutations are not always presented the same phenotypically due to polymorphisms
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What is the inheritance for DYT1?
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hereditary dystonia; AD with incomplete penetrance
GAG insertion leading to gain of function |
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What diseases demonstrate incomplete penetrance variants?
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GTPP:
GTP cyclohydrase deficiency Tourette's PARK mutation Parkinson's disease |
disease more likely or more severe in recessive but can also occur as dominant
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How is GTPCH treated?
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it is dopa-responsive dystonia if only one gene is mutated
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GTP cyclohydrolase deficiency
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Explain the environmental Modifier mechanism of disease inheritance.
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Genetic abnormality predisposes to disease and is triggered by a specific environmental interaction (ie virus)
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What is ALD set off by?
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set off by immune response in white matter
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What is narcolepsy set off by?
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some HLA types that undergo AI reaction to cause loss of hypocretin neurons in brainstem.
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What is Bardet Biedl Syndrome?
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pigmentary retinal degenation coded by 6 genes (multiple additive gene)
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What is the minimum requirement to contract Bardet Biedl Syndrome?
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Mutations on both chromosomes for one gene plus a third mutation on another gene
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What is the most common kind of inheritance?
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complex multifactorial trait inheritance
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What is complex multifactorial trait inheritance?
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it is the sum of activity of many interacting genes
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What is the direct pathway of transplant rejection?
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Donor MHC molecules recognized by recipient CD4 and CD8 cells to produce vascular instability which results in graft injury
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What is the indirect pathway of transplant rejection?
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Graft antigen processed by recipient T cells similar to delayed hypersensitivity
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Describe hyperacute humoral rejection
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minutes to hrs where Ag-Ab reactions cause complement cascade because recipient has Ab for graft already...?!
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prevented by crossmatch with recipient serum and donor cells
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Describe acute humoral rejection.
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Cd4 driven characterized by interstitial mononuclear infiltrate
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Describe chronic transplant rejection.
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progressive renal failure; infiltrate has interstitial fibrosis, vascular changes, and tubular atrophy.
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What is rejection vasculitis?
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B cell Abs that cause necrotizing vasculitis, neutrophil infiltrates, and Ig deposition in acute transplant rejection
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What can increase graft survival?
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match MHC class II, immunosuppressive therapy
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What inhibits leukocyte development?
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azathioprine
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What is used in immunosuppressive therapy and works by blocking IL-2 production?
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cyclosporin
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What drug can suppress T cell mediated inflammation?
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steroids
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What does rapamycin and mycophendate inhibit?
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lymphocytes proliferation
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MYcin, MYco YMphocytes
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what is mixed chimerism?
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donor cells used to block costimulatory molecules used in immunosuppresive therapy
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What is GVH disease?
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graft vs host disease: when immunocompetent cells are transplanted and recognizes host as "foreign" and mounts an immune response :(
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What is the acute response in GVH mediated by? What are its characteristics?
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CD8; characterized by skin, GI, liver dysfunction.
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What is the chronic GVH disease characterized by?
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chronic liver disease, esophageal strictures, involution of thymus and lympoid tissue
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What cells mediate transplant rejection?
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NK cells and T cells
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Why are NK cells toxic to transplant patients?
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the host is irradiated and remaining stem cells lack MHC class I which inhibit NK cells
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What are the types of immunologic self- tolerance mechanisms?
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clonal deletion, alonal anergy, regulatory T-cells
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Define immunologic tolerance
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the inability to develop an antibody to a specific antigen
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What is self-tolerance?
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non-reactivity to self-antigens
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What protein is mutated in autoimmune polyendocrinopathies?
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AIRE; the protein critical for deletion of self-reactive T cells
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How does clonal anergy occur?
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encouterning self-antigen without costimulatory molecules (B7)
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What T-cell receptor binds to B7 molecules to suppress T cell activation?
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CTLA-4
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How do regulatory T cells regulate?
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by secretion of cytokines IL-10 and TGF-B
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What do abnormalities of Foxp3 cause?
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IPEX
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What is IPEX?
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immune dysregulation, Polyendocrinopathy, enteropathy, X-linked
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What are autoimmune diseases characterized by?
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1) presence of reaction not secondary to tissue reaction
2) no other well-defined cause is apparent |
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What does failure of peripheral tolerance involve?
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1) breakdown of clonal anergy
2)induction of B7 molecures on APC (antigen presenting cells) 3)secretion of IL-12 to induce Th1 cells |
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What is molecular mimicry?
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cause of peripheral immuno intolerance;
infectious agent that shares epitopes with self-antigen |
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What is epitope spreading?
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exposure of cryptic self-receptors which promotes the induction and activation of autoreactive T cells
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What is the clinical feature of systemic lupus erythematosus?
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Rosacea on bridge of nose called maylar rash;
chronic, remitting febrile ilness (4/11 criteria for diagnosis) |
SOAP BRAIN MD
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What is the clinical feature of Sjogren syndrome?
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dry eyes, moth and with another AI disease
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What is the clinical feature of systemic sclerosis?
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extensive fibrosis of skin and organs
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What is the clinical feature of mixed connective tissue disease?
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features of SLE, polymyositis, rheumatoid arthritis, systemic sclerosis.
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What is systemic lupus erythematosus?
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where Anti-DNA ab's cause organ injury
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What nongenetic factors characterize systemic lupus erythematosus?
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drug-induced lupus and SEX HORMONES
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What is Sjogren's?
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lymocytic infiltration and fibrosis of the lacrimal and salivary glands
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How is Sjogren's diagnosed?
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there are RNP antigens SS-A and SS-B in serum
BUT LIP BIOPSY is necessary |
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What is diffuse and limited scleroderma?
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Limited is only skin with visceral involvment late in the disease process
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What is the diagnosis for systemic sclerosis?
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Anti-DNA Ab's, DNA topoisomerase I in serum
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What do patients with mixed connective tissue disease have?
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high titers of RNP Ab's
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respond to corticosteroids
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What is X-linked agammaglobulinemia?
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B cell maturation stops because of Btk mutations so that opsonization is lost
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What is common variable immunodeficiency?
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Where there is a normal B cell count but lack of Ig's produced
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What is the most common immunodeficiency?
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IgA; B cells normal but inable to differentiate into IgA producing plasma cells
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respiratory tract allergy problem-prone
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What is Hyper IgM syndrome?
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where CD40 defect prohibits class switching so only IgM is produced
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What is DiGeorge's Syndrome?
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failure of 3rd and 4th pharyngeal pouch to develop so there is no thymus (no T-cells!)
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What is severe combined immunodeficiency?
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a class of disease states where both T and B cells have problems developing
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What is X-linked SCID?
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where gamma subunit of cytokine receptor is mutated so it can't get proliferation signals (IL-7 mainly)
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What is ADA deficiency?
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SCID, AR which causes deoxy ATP toxicity in lymphocytes
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What is bare lymphocyte syndrome?
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imparied expression of MHC II molecules
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What process does jak3 mutation inhibit?
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signal transduction through cytokine receptor gamma chain
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What is WAS?
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dysfunction of WASP which links receptors to cytoskeleton;
low IgM but high IgG, IgA, IgE |
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What deficiency:
most common, causes lupus-like syndrome |
C2 with C1 q, r, s, or C4
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What deficiency:
high infection with neisseria |
C5-9
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What deficiency:
hereditary angioedema? |
C1 inhibitor
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What is aquired immunodeficiency?
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HIV
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What are the three viral enzymes in HIV?
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protease, reverse transcriptase, integrase
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What shape is HIV cDNA during quiescent and division in T Cells?
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quiescent = linear;
dividing = circular |
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What does HIV target and destroy?
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CD4+ helper lymphocytes to produce a decline in cell mediated immunity
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Where is HIV stored?
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in macrophages
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What cytokine inhibits HIV replication?
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IL-10
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What is counted to diagnose AIDS?
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<200 CD4+ cell counts
alos HIV-1 RNA |
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Most common tumor in AIDS?
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kaposi's sarcoma, cervical and anal carcinomas
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What is required for HIV cell entry?
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gp120 binding to CD4 and chemokine receptors
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What are the key elements of the hemostatic system?
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coagulation cascade, vessels, platelets
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What is Virchow's Triad?
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The three factors that cause thrombus formation:
Hypercoagulability Abnormal blood flow Endothelial injury |
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What are fibrin split products and proteins Cand S?
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naturally occurring anticoagulants that prevent runaway clotting of all vasculature
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What factors and involved in the intrinsic coagulation cascade?
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12, 11, 9, 8, 10, 5, 2 Fibrinogen to fibrin
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What factors are involved in the extrinsic coagulation cascade?
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7-10-5-2-fibrinogen to fibrin
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Where do both coagulation cascades unite?
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10-5-2-fibrinogon to fibrin
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What binds platelets to the surface endothelium?
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von Willebrand Factor
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What are endothelial cell prothrombic secretions?
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von willebrand factor and tissue factor and plasminogen activator inhibit
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What are endothelial cells antithrombotic secretions?
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anti-platelet properties, thrombomodulin, PRotein C activation, tPA (tissue plasminogen activator)
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What type of granules are in platelets?
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alpha granules and dense bodies
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What do platelet alpha granules contain?
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adhesion molecules and cytokines
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What do platelet dense bodies contain?
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ATP and vasoactive substances (NT's)
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What catalyzes the final steps in the coagulation pathway?
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Thrombin which causes fibrin formation and also induce platelet activation/aggregation
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What is responsible for fibrinolysis?
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plasminogen activation to plasmin by t-PA, u=PA or strptokinase
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What blocks t-PA activity?
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PA-inhibitors released by endothelial cells.
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t-PA activates plasmin activity
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exudate
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non-pitting edema = pus, protein rich!
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transudate
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pitting edema = ultrafiltrate of plasma
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hyperemia
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increased volume of blood resulting from augmented tissue inflow or arteriolar dilation (ie during exercise)
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Differerence between hyperemia and congestion?
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both are accumulations of blood but hyperemia is an active process while congestion is a passive process because outflow is impaired
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petechiae
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1-2mm hemorrhages in skin, mucous membranes, serosal sufaces
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purpura
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larger petechiae; >3mm hemorrhages
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ecchymosis
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bruises usually due to trauma
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hemothorax
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large accumulation of blood in thorax
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hemopericardium
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large accumulation of blood in pericardium
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hemarthrosis
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large accumulation of blood in joints
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lines of zahn
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when thrombi are formed in the heart or aorta; lines are alternating layers of platelets, fibrin, RBCs.
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mural thrombi
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when thrombi are adherent to the wlal of underlying structures in hear chanbers or aortic lumen
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arterial thrombi
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occlusive thrombi usually superimposed on atherosclerotic plaque
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phlebothrombosis
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VENOUS thrombi which are worse because blood flow is more static in veins
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thrombophlebitis
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pro-coagulant released by tumors which cause Trousseau's syndrome
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thromboembolism
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dislodging of thrombi and migration to a distal site
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saddle embolus
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emboli at the pumonary artery branch
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What causes air embolism?
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chest wall injuries, surgery, decompression sickness
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disseminated intravascular coagulation
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thrombo-hemorrhagic disorder where microthrombi form following coagulation
thombi and consumption of coagulation factors occur |
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What is normal fluid homeostasis?
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where vessel wall integrity, pressures, and fluidity is preserved until injury requires clot formation
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What are complications of brain edema?
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herniation or blockage of brain's venous outflow
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When does subcutaneous edema occur?
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CHF of right ventricle
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hemorrhage
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extravasion of blood from vessels due to rupture and decreased ability to clot
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What does congestion cause?
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hypoxia and necrosis
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What is hemorrhagic diathesis?
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the decreased ability to clot blood normally to lead to hemorrhage with only slight trauma
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What conditions are considered hemorrhagic diathesis?
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thrombocytopenia and clotting factor deficiencies
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What is acute pulmonary congestion characterized by?
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capillaries are engorged with blood and there is septal edema
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What is chronic pulmonary congestion characterized by?
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fibrous, thickened septa and macrophage infiltration.
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What occurs in chronic passive congestion of liver?
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central regions of lobules are red-brown (centrilobular necrosis)
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What is Virchow's triad?
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endothelial injury, abnormal blood flow, hypercoagulability
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What kind of thrombus often occurs where blood flow is turbulent?
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mural thrombi
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In what direction does thrombi extend?
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in the direction of blood flow in veins and retrograde in arteries.
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What is the origin of most pulmonary thromboemboli?
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DVT
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What are fat emboli from?
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long bone fractures or soft tissue trauma/burns
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What is the difference between arterial and venous infarcts
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arterial infarcts are due to decreased inflow while venous infarcts are due to poor drainage
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What do infarcts look like?
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wedge-shaped with apex at the occluded vessel and organ forming the base
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What is a red infarct?
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hemorrhagic infarct
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What is a white infarct?
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anemic infarct caused by arterial occlusions in solid organs where blood flow is limited
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What is a septic infarct?
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infected infarct
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What is a bland infarct?
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uninfected infarct
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What are the three outcomes of organ infarction?
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1) fibrous scar development
2)septic infarct into abcess 3) brain infarct undergoing liquefactive necrosis |
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What is DIC?
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disseminated intravascular coagulation; activation of coagulation pathway to cause microthrombi formation and consumption of coagulation factors which leads to bleeding.
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What is DIC caused by?
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release of tissue thromboplastin and/or endothelial cell injury
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What can cause shock?
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either loss of blood volume or increased vasodilation to the point where effective circulating blood volume decreases.
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What causes septic shock?
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gram positive bacteria that activate inflammatory mediators that cause thrombosis and increased permeability
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What does shock result in?
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multiorgan system failure due to hypoxia
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What are the stages of shock?
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non-progressive phase (reflex), progressive stage (metabolic imbalances), irreversible stage.
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What is the minimal threshold theory?
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theory that there is a level of exposure below which no measureable effect can be seen
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What are the common pathways of injury by toxins?
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Direct injury or after phase I or phase II metabolism
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What are the toxic heavy metals?
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LAMB CCN:
lead, arsenic, mercury, beryllium, cadmium, chromium, nickel |
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What are the consequences of lead poisoning?
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hematologic abnormalities; lead lines in gum and protoporphyrin elevation
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What is the best indicator of lead poisoning?
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serum lead level or protoporphyrin elevation
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Method of lead absorption?
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skin and GI
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Method of mercury absorption?
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skin and respiratory
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What is the most harmful form of mercury?
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organic mercury due to methylation by aquatic organisms
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What is cadmium used in?
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manufacturing of pain, electronics, batteries, mining (air)
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What is chromium widely used in?
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paint and steel industry
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What can nickel cause?
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contact dermatitis and cancer
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What does beryllium toxicity cause?
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acute lung irritation
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How can uranium be toxic?
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both by radiation and metal poisoning; causes hematological neoplasms
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What does acute intoxication of Volatile Organic Compounds cause?
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dizziness, headache, liver, and kidney damage
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How are aliphatic hydrocarbons absorbed?
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skin, GI, respiratory
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What does chronic exposure of aliphatic hydrocarbon cause?
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liver and kidney failure
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What is benzene (aromatic hydrocarbons) known to cause?
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bone marrow depression, aplastic anemia, and acute leukemia via their metabolic products
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What does the combustion of fossil fuels form? What does this cause?
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polycyclic aromatics; scrotal cancer
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What are PCBs?
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industrial solvent that produce weak estrogen effects and is carcinogenic in rodents
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Low levels of what can be detected in humans that consume fresh water fish?
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PCBs
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What is black lung disease result from?
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breathing coal + silicon
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What radiation do coal miners get exposed to?
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radon and polonium from decay of radium
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What is silicosis?
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caused by inhalation of crystalline silica dust, and is marked by inflammation and scarring in forms of nodular lesions in the upper lobes of the lungs.
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What does asbestos exposure lead to?
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fibrosis with eventual pulmonary failure
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What dangers are associated with dioxin?
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aka Agent Orange; increased leukemia, lymphoma, and sarcoma, chloracne
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What determines radiation effects?
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type of energy, dose of energy, mass of tissue exposure and its sensitivity to the radiation.
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How does radiation cause damage?
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DNA cross-linking, breakage, and even thermal BURNS
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What is the most common physical trauma?
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automobile accidents
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In what conditions are airbags useful for?
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head-on collisions under 35 mph
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Risk of what trauma occurs 100ft below sea level?
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barotrauma; leads to rupture of lungs and preexisting blebs
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What work conditions pose a hazard of avascular necrosis of bones?
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Work environments under pressures greater than atmospheric pressure.
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What type of malnutrition do third world countries focus on?
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PEM
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What is secondary malnutrition?
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when a disease state prevents proper nutrition
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Listeria monocytogenes
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gram-positive bacteria that causes the most food-born deaths.
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cryptosporidium
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parasite transmitted fecal-orally
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pyrolysis
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cooking; the chemical decomposition of organic material by using heat
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nitrosamine precursors
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carcinogenic, found in many foods and limited by the government
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PEM
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protein energy malnutrition
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anorexia nervosa
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distortion of body image; self-induced starvation
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Marasmus
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Total calorie deprivation leading to 60% reduction in height/sex adjusted weight;
MARA has a big head (clinical presentation) |
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Kwashiorkor
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Protein deprivation greater than total calorie reduction which is worse than marasmus
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bulimia
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binge eating followed by self-induced vomiting; pts can be fat but focused on weight loss
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Vitamin A deficiency
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night blindness and infection vulnerability
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Vita D deficiency
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rickets and osteomalacia
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Vita E deficiency
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spinocerebellar degeneration
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Vita K deficiency
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bleeding diathesis and spinocerebellar degeneration
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Vita B1 deficiency
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Thiamine
dry and wet beriberi and Werneke's encephalopathy |
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Vita B2 deficiency
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Riboflavin - component of FAD
glossitis, dermatitis, corneal vascularization |
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Vita B3 deficiency
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Niacin - in NAD/NADP
PELLAGRA: dementia, diarrhea, dermatitis |
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What is Niacin synthesized from?
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tryptophan (deficiency of this will also cause demetia, diarrhea, dermatitis)
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Vita B6 deficiency
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Pyridoxine
increase in homocysteine and atherosclerosis; peripheral neuropathies |
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Vita C deficiency
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scurvy, cartilage/bone overgrowth and bowing
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What is Vitamin C a cofactor for?
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NE conversion to Epi
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What is folate and Vita B12 required for?
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synthesis of THF
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B12 or folate deficiency
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megaloblastic anemia
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Symptoms of zinc deficiency
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rash on face, anorexia, imparied wound healing, mental retardation
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What is Keshan's disease
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chinese selenium deficiency: cardio myopathy
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Deficiency of what casues microcytic hypochromic anemia?
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Iron (caused by malnutrition or bleeding)
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