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21 Cards in this Set
- Front
- Back
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Genetic Sex vs Gonadal Sex vs Phenotypic Sex?
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- Genetic sex: presence of Y indicates male
- Gonadal sex: determined by gonadal histology (microscopic) - Phenotypic sex: determined by external genitalia (gross) |
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True vs Pseudo Hermaphrodite?
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True vs Pseudo:
- True = both ovarian AND testicular tissue - Pseudo = genetic and phenotypic sex don't match (XY with testicles, AND vaginal pouch) |
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Autosomal Recessive Disorders
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- early expression
- complete penetrance - uniform expression within a family - may have consanguineous relationship - often are enzyme defects with accumulated toxic substrate or loss of needed end product |
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Storage Disorders
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- commonly have "pale cytoplasm"
- defects of catabolism, products normally catabolized are stored within cells - severity of disorder depends on site of storage, rate of accumulation - common sites = CNS, liver&spleen, marrow - complex, most are rare |
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Glycogen Storage Disease
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- deficient enzyme => synthesis or degradation of glycogen
- hepatic types = storage of glycogen in liver => heptaomegaly, hypoglycemia - muscle types = weakness and cramps with excercise - sever multiorgan types = cardiomegaly and death in childhood |
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Mitochondrial Inheritance
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- females give to everybody, males give to nobody
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Gene Imprinting
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- gene inactivated based on parent's sex
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Multifactorial Inheritance
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- additive effects of multiple genes
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Epigenetics
(& mechanisms) |
- heritable traits, over rounds of cell division, and, sometimes, transgenerationally, that do not involve changes in the underlying DNA sequence.
- type of "cellular memory" - critical to development - short term evolutionary advantages - DNA methylation and chromatin remodelling influence which genes are expressed in a cell. Important in development. - Post-translational modification of amino acids in histones - Addition of methyl groups to DNA at C-G, turns off genes and suppressed ‘junk’ DNA - RNA transcripts and/or their encoded proteins sometimes act in a fashion to maintain the transcription of their gene - Prions can also be considered as epigenetic agents that modify phenotype without altering genotype |
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Deformation vs Malformation vs Disruption vs Sequence
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- Deformation: pressure effect on normally developing structure (legs twisted at weird angles... everything there, but just deformed)
- Malformation: intrinsic structural defect (missing bones) - Disruption: extrinsic abnormality interferes with development (band of amnion squeezes off a leg, and leg is amputated) - Sequence: “downstream” effects of a malformation on further development |
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Failure of separation
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- fingers stuck together
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Failure of fusion
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- spina bifida, where spinal cord doesn't close
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Atresia
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- lumen didn't form (like esophagus that ends in the throat as a pouch)
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Dysplasia
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- abnormally formed organ (like cystic kidneys)
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What do the following generally suggest about a persons immune system:
- recurrent bacterial infection - recurrent viral, fungal, parasitic infections |
- immunoglobulin, complement or phagocytic defects
- defective cell mediated (TCell) immunity, certain BCell defects, certain granulocyte defects |
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What could happen if you administer an oral dose of live polio vaccine to a patient with X-linked agammaglobulinemia?
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- they GET polio!
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Give the 3 examples of Immune Hemolytic Anemias from Type II Hypersensitivity Rxn's
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- Transfusion rxn = foreign cell + pt Ab
- Erythroblastosis fetalis = pt cell + foreign Ab - Autoimmune hemolytic anemia = pt cell + pt ab |
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Direct vs Indirect Coomb's Test?
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- CHECK FOR Ab's AGAINST PT'S OWN RBC's
- Direct = check pt RBC for attached Ab's (pt cells mixed with anti-human Ig-) - Indirect = check pt serum for anti-RBC Ab's (pt serum mixed with test RBC's having known antigens, then add anti-human Ig-) |
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What is a hapten?
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- small molecule that can elicit an immune response only AFTER it is attached to a large carrier (such as a protein)
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What is ANA?
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- anti-nuclear Ab's (check for auto-immune disease)
- detected with indirect immunofluorecence microscopy - titer and pattern reported if positive - low titer common in normal aged population |
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Autoimmune disorders more common in women or men?
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- WOMEN! (whew)
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