Term
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Definition
| Cancer arising from epithelial cells. Type malignant by definition-invades surrounding tx and organs. In-situ type-cytology indicates malignant changes but no invasive thru basement membrane. Named by appearance, origin or cell affected. Appearance for example, squamous cell. Putative cell of origin, for example renal cell ***. Presumptive organ of primary development, for ex. *** of prostate. |
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Term
| Primary Ciliary Dyskinesia (Immotile Cilia Syndrome-Kartagener's syndrome; Young's syndrome; & Hydrocephalus internus) |
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Definition
| Group of autosomal recessive hereditary disorders affecting 1/20,00 births. Includes Kartegener's syndrome-dynein arms absent; results in recurrent respiratory infections, situs inversus, & male sterility. Young's syndrome-defect in radial spokes & dynein arms; results in recurrent respiratory infections(reduced # of dynein arms) & situs inversus (Situs inversus is a condition in which the organs of the chest and abdomen are arranged in a perfect mirror image reversal of the normal positioning.) Hydrocephalus internus (fluid in brain)-defect in cilia of ependymal cells of brain ventricles. |
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Term
| Polycystic kidney disease |
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Definition
Defect in formation or function of sensory cilia->unregulated cell division
Multiple expanding cysts in kidneys->kidney failure
1/800 – 1000 white individuals are carriers |
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Term
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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 signalling pathways that originate in cilia.
Characterized by: congenital impairment; retinal degeneration leading to blindness; trunk obesity; cystic kidneys; polydatyly, situs inversus; heart defects.
Treatment: cystic kidneys=kidney transplant; polydatyly-surgery to remove extra digits; No treatment for congenital impairment; retinal degeneration; situs inversus, etc. A collection of genetically heterogeneous disorders (at least 9 loci) due to defects in the formation and/or functioning of basal bodies &/or cilia, which leads to a defect in signaling pathways that originate in cilia. It is characterized by: congenital impairment; retinal degeneration leading to blindness; trunk obesity; cystic kidneys; polydactyly; situs inversus; heart defects. |
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Term
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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. Long latency period (25-40 years); symptoms include: shortness of breath, chest pain, and accumulation of pleural fluid. Surgery, radiation and chemotherapy->generally poor prognosis due to metastize to lymph nodes->other organs. 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
| Destruction of junctional complexes |
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Definition
Bacteria: target proteins of ZO resulting in breakdown of zonula occludens
Clostridium perfringens – intestine; food poisoning
Helicobacter pylori – stomach; gastric ulcers & carcinomas
Secrete products that target proteins of ZO->Breakdown of zonula occludens
Viruses (target proteins of zonula occludens resulting in either death or oncogenesis)
infant enteritis – inflammation of intestines
Induces apoptosis (programmed cell death
Adeno virus and papilloma virus leads to oncogenesis
Parasites-destroy occuldin and ZO-1; no longer functions as a barrier & respiratory epithelium b/c vulnerable to allergens
house dust mite (destroys zonula occludens)
proteases degrade occludin & ZO-1
respiratory epithelium vulnerable to allergens
- Via Bacteria: target proteins of ZO resulting in breakdown of zonula occludens
- Via Viruses: target proteins of ZO resulting in either death or oncogenesis
- Via Parasites: (house mite) destroy occludin & ZO-1; no longer functions as barrier & respiratory epithelium b/c vulnerable to allergens. |
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Term
| Congenital deafness & cataracts |
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Definition
Mutations in connexin in the gap junctions are involved in these 2 diseases. Cx26 causes K+ circulation in cochlear sensory epithelium. Cx46 and Cx50 involvee nutrient waste from the avascular lens.
Another similar disease involves mutation in Cx32 which is associated with X-linked Charcot Marie Tooth Disease->peripheral neuropathy
- Cx26 Mutation - congenital deafness (K+ circulation in cochlear sensory epithelium); - -- Cx 46 & Cx 50 Mutations - identified in patients w/ inherited cataracts (nutrients/waste from avascular lens) |
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Term
| Bullous pemphigoid (Blistering Disease) |
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Definition
Caused by mutations in the anchoring fibrils b/w CT and basal lamina
Autoimmune -> alpha-BP230 Abs, Antibodies produced against hemidesmosomes->degradation
65 yrs of age or older; rare in US more common in Europe
Chronic blisters-> separation
of epithelium from basement
membrane/CT
Diagnosed by presence of IgG directed against BP230.
Treatment: corticosteroids and immunosuppressives
Autoimmune disease where antibodies are produced against hemidesmosomes, leading to degradation. Characterized by chronic, generalized blisters in skin causing epithelium to separate from CT. Diagnosed by presence of IgG directed against BP230. |
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Term
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Definition
Form of carcinoma originating in glandular tx.
Cells do NOT have to appear glandular but DO have to have secretory properties.
Most common type is colorectal cancer.
Glandular origination
w/ secretory product.
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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