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9 in 09
Diseases to know for Histology
34
Biology
Professional
08/24/2009

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Term
I cell disease
Definition
Lacking the mannose 6-phosphate (M6P) tag, lysosomal enzymes are secreted from the cell instead.
Term
Pelger-Huet anomaly
Definition
lamin disorder resulting in hyposegmentation of wbcs
Term
Zellweger syndrome
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
Term
Von Gierke disease
Definition
enlarged liver, deficiency of G-6-phosphatase to convert glycogen to glucose
Term
Krabbe (crab a) Disease
Definition
a galactocerebrosidase deficiency. GALC is needed for myelin synthesis.
Term
Three cellular structures that have been found to stain positive for ubiquitin and thus may be ubiquinated aggregates of protein
Definition
Neurofibrillary tangles in Alzheimer Disease, Lewy bodies in Parkinson's disease, Mallory bodies in alcholic liver cirrhosis
Term
Atrophy
Definition
a decrease in the size and function
Term
Familial hypercholesterolemia
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.
Term
MERRF (Myoclonic epilepsy with ragged red fibers)
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.
Term
Carcinoma
Definition
Cancer arising from epithelial cells; Malignant by definition since it invades surrounding tissues and organs
Term
How are carcinomas named?
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)
Term
Carcinoma in-situ
Definition
cytology indicates malignant changes but no invasion thru basement membrane
Term
Primary Ciliary dyskinesia (Immotile Cilia Syndrome)
Definition
Group of autosomal recessive hereditary disorders affecting 1/20,000 births, including Kartagener's syndrome, Young's syndrome, and Hydrocephalus internus
Term
Kartagener's syndrome
Definition
Immotile dynein arms absent; results in recurrent respiratory infections, situs inversus, & male sterility
Term
Young's syndrome
Definition
defect in radial spokes & dynein arms; results in recurrent respiratory infections & situs inversus
Term
Hydrocephalus internus (fluid in brain)
Definition
defect in cilia of ependymal cells of brain ventricles
Term
Polycystic kidney disease (9+0)
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
Term
What is Bardet-Biedl Syndrome casued by?
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
Term
What is Bardet-Biedl Syndrome Characterized by?
Definition
congenital impairment; retinal degeneration leading to blindness; trunk obesity; cystic kidneys; polydactyly; situs inversus; heart defects
Term
What is the treatment for Bardet-Biedl Syndrom?
Definition
cystic kidneys - kidney transplant; polydactyly - surgery to remove extra digits; No treatment for congenital impairment; retinal degeneration; situs inversus, etc.
Term
How do bacteria destroy junctional complexes?
Definition
Bacteria target proteins of ZO resulting in breakdown of zonula occludens
Term
How do viruses destroy junctional complexes and what is the result?
Definition
Viruses target proteins of ZO resulting in either death or oncogenesis
Term
How do parasites destroy junctional complexes and what is the result?
Definition
Parasites (house mite) destroy occludin & ZO-1; no longer functions as barrier & respiratory epithelium b/c vulnerable to allergens
Term
Cause of pleural mesothelioma
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
Term
Symptoms of pleural mesothelioma
Definition
Long latency period (25 - 40 years); symptoms include: shortness of breath, chest pain, and accumulation of pleural fluid
Term
Treatment for pleural mesothelioma
Definition
Surgery, radiation, and chemotherapy but there is a generally poor prognosis due to metastasis to lymph nodes and then other organs
Term
Cx26
Definition
connexin gene that when mutated causes congenital deafness (K+ circulation in cochlear sensory epithelium)
Term
Cx 46 & Cx 50
Definition
connexin gene mutations identified in patients w/ inherited cataracts (nutrients/waste from avascular lens)
Term
Cx32
Definition
connexin gene mutation associated with X-linked Charcot Marie Tooth Disease which leads to peripheral neuropathy
Term
Cause of Bullous pemphigoid (Blistering Disease)?
Definition
Autoimmune disease - antibodies produced against hemidesmosomes --> degradation; Onset at age ~65; rare in US, more common in Europe
Term
What is Bullous pemphigoid characterized by?
Definition
Characterized by chronic, generalized blisters in skin causing epithelium to separate
Term
How is Bullous pemphigoid diagnosed?
Definition
Diagnosed by presence of IgG directed against BP230
Term
How is Bullous pemphigoid treated?
Definition
corticosteriods and immunosuppressives
Term
Adenocarcinoma
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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