Term
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Definition
| Lacking the mannose 6-phosphate (M6P) tag, lysosomal enzymes are secreted from the cell instead. |
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Term
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Definition
| lamin disorder resulting in hyposegmentation of wbcs |
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Term
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Definition
| inability to import newly formed proteins across peroxisomal membranes; newly synthesized peroxisomal enzymes remain in cytoplasm and are destroyed; peroxisomes are thus empty; myelin synthesis is affected |
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Term
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Definition
| enlarged liver, deficiency of G-6-phosphatase to convert glycogen to glucose |
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Term
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Definition
| a galactocerebrosidase deficiency. GALC is needed for myelin synthesis. |
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Term
| Three cellular structures that have been found to stain positive for ubiquitin and thus may be ubiquinated aggregates of protein |
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Definition
| Neurofibrillary tangles in Alzheimer Disease, Lewy bodies in Parkinson's disease, Mallory bodies in alcholic liver cirrhosis |
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Term
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Definition
| a decrease in the size and function |
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Term
| Familial hypercholesterolemia |
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Definition
| an autosomal dominant disorder caused by a mutation that encodes LDL receptors. Defective receptors lose an affinity for coated pits, so uptake of cholesterol is blocked. High cholesterol may result in MI, stroke, midlife death. |
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Term
| MERRF (Myoclonic epilepsy with ragged red fibers) |
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Definition
| a point mutation in a mitochondrial DNA gene encoding tRNA for lysine; result - deficiency in the oxidative phosphorylation chain. Neurons and muscle cells are the most affected, since they are highly dependent on mitochondrial oxidative phosphorylation. Respiratory and cardiac failure because respiratory and cardiac muscles are affected. |
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Term
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Definition
| Cancer arising from epithelial cells; Malignant by definition since it invades surrounding tissues and organs |
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Term
| How are carcinomas named? |
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Definition
| By appearance of cells (e.g., squamous cell carcinoma), putative cell of origin (renal cell carcinoma), or presumptive organ of primary development (carcinoma of prostate) |
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Term
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Definition
| cytology indicates malignant changes but no invasion thru basement membrane |
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Term
| Primary Ciliary dyskinesia (Immotile Cilia Syndrome) |
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Definition
| Group of autosomal recessive hereditary disorders affecting 1/20,000 births, including Kartagener's syndrome, Young's syndrome, and Hydrocephalus internus |
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Term
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Definition
| Immotile dynein arms absent; results in recurrent respiratory infections, situs inversus, & male sterility |
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Term
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Definition
| defect in radial spokes & dynein arms; results in recurrent respiratory infections & situs inversus |
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Term
| Hydrocephalus internus (fluid in brain) |
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Definition
| defect in cilia of ependymal cells of brain ventricles |
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Term
| Polycystic kidney disease (9+0) |
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Definition
| 1 in 800 - 1000 white individuals are carriers, Defect in formation or function of sensory cilia, Multiple expanding cysts form in kidneys ultimately resulting in kidney failure |
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Term
| What is Bardet-Biedl Syndrome casued by? |
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Definition
| A collection of genetically heterogeneous disorders (at least 9 loci); Due to defects in the formation and/or functioning of basal bodies &/or cilia --> defect in signaling pathways that originate in cilia |
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Term
| What is Bardet-Biedl Syndrome Characterized by? |
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Definition
| congenital impairment; retinal degeneration leading to blindness; trunk obesity; cystic kidneys; polydactyly; situs inversus; heart defects |
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Term
| What is the treatment for Bardet-Biedl Syndrom? |
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Definition
| cystic kidneys - kidney transplant; polydactyly - surgery to remove extra digits; No treatment for congenital impairment; retinal degeneration; situs inversus, etc. |
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Term
| How do bacteria destroy junctional complexes? |
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Definition
| Bacteria target proteins of ZO resulting in breakdown of zonula occludens |
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Term
| How do viruses destroy junctional complexes and what is the result? |
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Definition
| Viruses target proteins of ZO resulting in either death or oncogenesis |
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Term
| How do parasites destroy junctional complexes and what is the result? |
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Definition
| Parasites (house mite) destroy occludin & ZO-1; no longer functions as barrier & respiratory epithelium b/c vulnerable to allergens |
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Term
| Cause of pleural mesothelioma |
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Definition
| most common of tumors that arise from parietal and visceral serous membranes of pleural, peritoneal, and pericardial cavities; Usually caused by occupational exposure to asbestos |
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Term
| Symptoms of pleural mesothelioma |
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Definition
| Long latency period (25 - 40 years); symptoms include: shortness of breath, chest pain, and accumulation of pleural fluid |
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Term
| Treatment for pleural mesothelioma |
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Definition
| Surgery, radiation, and chemotherapy but there is a generally poor prognosis due to metastasis to lymph nodes and then other organs |
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Term
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Definition
| connexin gene that when mutated causes congenital deafness (K+ circulation in cochlear sensory epithelium) |
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Term
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Definition
| connexin gene mutations identified in patients w/ inherited cataracts (nutrients/waste from avascular lens) |
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Term
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Definition
| connexin gene mutation associated with X-linked Charcot Marie Tooth Disease which leads to peripheral neuropathy |
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Term
| Cause of Bullous pemphigoid (Blistering Disease)? |
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Definition
| Autoimmune disease - antibodies produced against hemidesmosomes --> degradation; Onset at age ~65; rare in US, more common in Europe |
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Term
| What is Bullous pemphigoid characterized by? |
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Definition
| Characterized by chronic, generalized blisters in skin causing epithelium to separate |
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Term
| How is Bullous pemphigoid diagnosed? |
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Definition
| Diagnosed by presence of IgG directed against BP230 |
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Term
| How is Bullous pemphigoid treated? |
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Definition
| corticosteriods and immunosuppressives |
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Term
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Definition
| Form of carcinoma orginating in glandular tissue; Cells do NOT have to appear glandular but DO have to have secretory properties; Most common type of colorectal cancer |
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