Term
|
Definition
| lacking the mannose-6-phophate (M6P) tag, lysosomal enzymes are secreted from the cell instead |
|
|
Term
|
Definition
| lamin disorder resulting in hyposegmentation of wbcs |
|
|
Term
|
Definition
| inability to import newly formed proteins across peroxisomal membranes, plasmalogens (phospholipids) thus do not participate in myelin synthesis |
|
|
Term
|
Definition
| enlarged liver, deficiency of G-6-phosphatase to convert glycogen to glucose |
|
|
Term
|
Definition
| galactocerebrosidase deficiency 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
|
Definition
| a decrease in the size and function of a cell; Clinically it is recognized as a reduction in size or function of a organ; With atrophy the expression of differentiation genes is repressed, housekeeping genes not effected. |
|
|
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
|
Definition
Arises from epithelial cell; Carcinoma in situ (malignant by cytology but not
invasive); Named by appearance; organ; or cell affected |
|
|
Term
Primary Ciliary Dyskinesia
(Immotile Cilia Syndrome) |
|
Definition
| reduced number of outer and inner dynein arms affects ability of cilia to be motile. Three types... 1.) Kartagener's syndrome--> dynein arms absent; results in recurrent respiratory infections situs inversus & male sterility; 2.) Young's syndrome--> defect in radial spokes & dynein arms; results in recurrent respiratory infections and situs inversus. Hydrocephalus internus (fluid in brain)--> defect in cilia of ependymal cells of brain ventricles |
|
|
Term
| Polycystic Kidney Disease |
|
Definition
| Multiple expanding cysts in kidneys resulting in kidney failure; 1/800 – 1000 white individuals are carriers |
|
|
Term
|
Definition
| multigenic disorder caused by defect with the formation and/or function of basal bodies and cilia, linkage to 9 loci; results in cystic kidney, trunk obesity, polydactyly, cognitive defects, and retinal degeneration |
|
|
Term
Destruction of
junctional complexes |
|
Definition
Bacteria: 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)infant enteritis – inflammation of intestines. Induces apoptosis (programmed cell death), adenovirus, oncogenesis, papillomavirus
Parasites- house dust mite (destroys zonula occludens). proteases degrade occludin & ZO-1. respiratory epithelium vulnerable to allergens |
|
|
Term
|
Definition
(Blistering Disease). Autoimmune. Alpha BP230 Antibodies. 65 yrs of age or older. Chronic blisters from separation of epithilium from basement
membrane |
|
|
Term
|
Definition
| cancer with glandular origination and containing secretory product |
|
|
Term
|
Definition
Cx26 mutation – congenital deafness
Cx46 & Cx50 mutation – inherited cataracts |
|
|
Term
|
Definition
| myofibroblast disorder, proliferation of myofibroblasts |
|
|
Term
|
Definition
| Type I Collagen Defect; Repeated fractures after minor trauma, brittle bones, abnormal teeth, thin skin, weak tendons, blue sclera, progressive hearing loss |
|
|
Term
|
Definition
| fibrillin; complex autosomal dominant, connective tissue disorder. Immunoflourescence of a skin biopsy specimen from a person with this syndrome shows an absence of elastin associated fibrillin microfibrils. One of the consequences of the disease is abnormal elastic tissue |
|
|
Term
|
Definition
| Type III Collagen defect; Hypermobility of joints of digits, pale thin skin, severe bruisability, early morbidity and mortality resulting from rupture of vessels and internal organs. |
|
|
Term
|
Definition
| Collagen IV defects, causing basement membrane disorder, hematuria is most common and earliest manifestation; Hematuria (bloody urine) resulting from structural changes in the glomerular basement membrane of the kidney, progressive hearing loss, and ocular lesions. |
|
|
Term
|
Definition
| most common benign adipose tissue tumor; well-defined, soft, painless, masses of mature adipocytes usually found in the subcutaneous tissue of the back, thorax, and proximal parts of the upper and lower limbs. See also Box 9.2 |
|
|
Term
|
Definition
| the result of overgrowth of dense CT that usually develops after healing of a skin injury; they can be described as variations of typical wound healing; more collagen is produced than degraded and the scar grows in all directions |
|
|
Term
|
Definition
| It is considered a plasma cell dyscrasia (a disorder of the blood) or a plasma cell neoplasia. IgG is most common increase. Sheets or aggregates of plasma cells are present in the bone marrow. Ultimately all blood forming cells are replaced by plasma cells. Eventually, cortical bone may be destroyed.; Sheets of malignant plasma cells are present in a bone marrow aspirate, plasma cells account for over 10% of cells in the aspirate; IgM spike occurs in 80-90% of cases |
|
|
Term
|
Definition
virus utilizes axonal transport for travel to site of replication and release
1. Bite from rabies-infected animal releases virus into muscle replicates.
2. Virus is released from infected muscle & binds ACh receptor of innervating neuron
3. Virus carried by fast retrograde transport to neuronal cell body & ultimately to CNS replicate & causes encephalitis (clinical stage)
4. In peripheral nerve innervating salivary glands utilizes anterograde transport to infect new victim
5. Virus transferred by saliva by bite
6. Once clinical stage is reached, disease is almost always fatal (only 6 known survivors in US)
7. Negri and lyssa bodies–eosinophilic cytoplasmic inclusions |
|
|
Term
|
Definition
progressive neurologic disorder due to loss of dopaminergic neurons
a. Loss of dopaminergic neurons in substantia nigra & basal ganglia of brain (~80% lost by time symptoms appear)
b. Microscopic analysis: loss of pigmentation; increase in # of glial cells; presence of Lewy bodies (accumulation of neurofilaments and the presynaptic nerve terminal protein -synuclein into inclusions)
c. Symptoms include: resting limb tremors, esp. hand; rigidity or increased stiffness in all muscles; bradykinesia (slow movements); akinesia (inability to start movements); lack of spontaneous movements; loss of postural reflexes; slurred speech;
d. ~20% of patients have family member with similar symptoms; symptoms may also result from environment - infections (encephalitis); toxins; neuroleptics; repetitive trauma
e. Treatment: relieving symptoms; L-Dopa (precursor of DA that crosses blood-brain barrier); cholinergic receptor blockers; amantadine (stimulates release of DA from neurons); transplantation of dopaminergic neurons (aborted fetus) ethical considerations & fetal tissue developed disease; surgery to remove overactive regions of brain (thalamus); electrodes implanted into brain to destroy thalamus &/or block brain waves that cause uncontrollable movement |
|
|
Term
|
Definition
immotile cilia on ependymal cells
1. Greek “Water (CSF) on the brain;” affects 1:500 births
2. Build-up of fluid increase pressure expansion of skull bones
3. Due to lack of absorption of CSF; block in flow of CSF; overproduction of CSF
4. Causes can be acquired: tumor, infection, prematurity, bleed inside head, birth injury, abnormal blood vessel formation, trauma; or genetic: defect in cilia formation or function, etc.
5. Symptoms in infants include: rapid increase in head circumference, vomiting, sleeepiness, irritability, downward deviation of eyes & seizures; adults also display headache, gait & coordination issues, blurred and double vision, progressive mental impairment & dementia
6. Diagnosed by clinical neurological evaluation & brain imagining (CT, MRI)
7. Treatment: shunt to remove excess CSF |
|
|
Term
|
Definition
CNS demyelination
a. Demyelination in multiple areas of CNS chronic progressive episodes of neurologic deficits: (unilateral vision impairment; loss of cutaneous sensation, muscle coordination & movement, bladder/bowel control)
b. in IgG in CSF & abnormalities in T cell function
1.) Attacks myelin in CNS myelin detaches
2.) Loss of oligodendrocytes due to T cell-induced apoptosis
c. Chemical changes in lipid/protein components of myelin irregular, multiple plaques pathological feature
d. Loss of myelin blocks AP conduction
e. Treatment: immune response w/ interferon, adrenal steroids & immunosuppressive drugs |
|
|
Term
| Amyotrophic lateral sclerosis (Lou Gherig’s disease) |
|
Definition
1. Amyotrophic = muscle atrophy
2. Progressive degeneration of motor neurons of brainstem & spinal cord lateral sclerosis (tissue hardening) due to astrocytic gliosis (proliferation)
3. 5 – 10% of cases due to familial motor neuron disease (20% have mutation in gene superoxide dismutase 1 – convert toxic superoxide radicals to H2O2 & O2)
4. Sporadic ALS associated w/ Abs against voltage-gated Ca2+ channels
5. Average life expectancy from time of diagnosis is 2-5 years
6. No effective therapy although can slow progression of disease |
|
|
Term
|
Definition
neurofibrillar tangles (IF)
1. Progressive cortical dementia affecting language, memory, vision, emotion/personality
2. Familial forms mutations in presenilin 1/2 & -amyloid precursor protein accumulation of abnormal large form of -amyloid peptide & formation of amyloid plaques disrupt Ca2+ regulation causing neuron death.
3. Presence of Hirano bodies – intracytoplasmic inclusions
4. Inheritance of 1 or more apolipoprotein E4 alleles (APOE locus) indicative of susceptibility risk factor; homozygous associated with earlier age of onset of common form of disease
5. No treatment – symptomatic therapy in early stages of dementia |
|
|
Term
|
Definition
degeneration of cholinergic & GABA-ergic neurons due to CAG repeats
1. Affects 1:10,000 people; children of affected patients have 50% chance of developing disease; DNA test to determine if mutation present
2. Mutation in HD gene results in increasing repeats of CAG amino acid glutamate programmed degeneration of basal ganglia neurons uncontrolled movements, loss of intellectual faculties & emotional disturbance
3. Large numbers of CAG repeats associated w/ early (childhood) onset of disease
4. No cure but can try to treat symptoms |
|
|
Term
| Creutzfeldt-Jakob Disease (CJD) |
|
Definition
spongiform encephalopathy due to misfolding of PrP; cerebellar degeneration 1.) Rare, transmissible spongiform encephalopathy (TSE); 250 – 300 cases/year in US; 50-70 yr olds
2.) 4 forms:
a. sporadic – 85% of cases due to unknown cause
b. familial 15% of cases due to autosomal dominant mutation in PrP (protease-resistant protein) misfolding of PrP (PrPSc)
c. iatrogenic – accidental transmission via contaminated surgical equipment; cornea or dura mater transplant; via human-derived pituitary growth hormone
d. variant - < 5% of cases; strongly linked to exposure to BSE (mad cow disease); b/t 1996 – 2002 129 cases in UK, 6 France, 1 Canada, 1 Ireland, 1 Italy & 1 US; death within 14.5 months of symptom onset
3. Clinical presentation includes sleep disturbances, personality changes, ataxia, aphasia, muscle atrophy, progressive dementia, & death within in 1 year of onset (4.5 months from symptom onset)
4. Pathological features include prominent cerebellar degeneration (loss of granular neurons) & cerebral cortical spongiform; presence of prions (proteinaceous infectious particle)
a. Infection by mutated or abnormal PrPSc results in conformational change in normal cellular PrPc (found on cell membranes)
5. Another TSE = Kuru (Papual New Guinea); funerary rites involve ingestion of brain tissue |
|
|
Term
|
Definition
| uncontrolled osteoclast activity; The excessive breakdown and formation of bone tissue that occurs with Paget's disease can cause bone to weaken, resulting in bone pain, arthritis, deformities, and fractures. Paget's disease may be caused by a slow virus infection (i.e., paramyxoviruses such as measles, Canine distemper virus[2], and respiratory syncytial virus), present for many years before symptoms appear. |
|
|
Term
|
Definition
| impaired mineralization of bone, adult rickets |
|
|
Term
|
Definition
| Vitamin D deficiency in children results in decreased mineralization of bone. Symptoms include protruding forhead, bony necklace, curved bones, big joints, bowed legs, pain in bones, increased tendency for fracture, impaired growth, teeth deformities, fever, and muscle cramps. |
|
|
Term
|
Definition
| thin trabeculae and thin cortical bone, decrease in bone mass. ex. bone and alcohol--chronic use of alcohol inhibits OBs and increases OC activity; loss of estradiol. |
|
|
Term
|
Definition
| "Marble Bone Disease" Excessive formation of dense trabecular bone, overgrowth, ruffled border of _______ affected. Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Mild osteopetrosis may cause no symptoms, and present no problems. However, serious forms can result in stunted growth, deformity, increased likelihood of fractures, and anemia. It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone. |
|
|
Term
|
Definition
| syndrome that results when the pituitary gland produces excess growth hormone (hGH) after epiphyseal plate closure. A number of disorders may be affecting the pituitary to create this circumstance, although most commonly it involves a GH producing tumor derived from a distinct type of cells (somatotrophs) and called pituitary adenoma. Symptoms include soft tissue swelling visibly resulting in enlargement of the hands, feet, nose, lips and ears, and a general thickening of the skin; Soft tissue swelling of internal organs, notably the heart with attendant weaking of its muscularity, and the kidneys, also the vocal cords resulting in a characteristic thick, deep voice and slowing of speech; Generalized expansion of the skull at the fontanelle; Pronounced brow protrusion, often with ocular distension; Pronounced lower jaw protrusion with attendant macroglossia and teeth gapping |
|
|
Term
|
Definition
| highly malignant, forms neoplastic bone tissue, most common primary malignant bone tumor, one-fifth of all bone cancers, mostly males 10-25 are affected, most affected exhibit mutations in retinoblastoma gene. Often arises in vicinity of knee, 98% die of metastases to lung. Malignant OBs produce woven bone, serum alkaline phosphatase levels are increased in half of patients. Radiographic sunburst pattern is present |
|
|
Term
|
Definition
| can cuase severe pain or numbness if protrusion impinges on a nerve or the spinal cord. Results from an overall loss of integrity or elasticity of fibrocartilage assoaciated with the annulus fibrosus. This results in protrusion of the nucleus pulposis through the annulus fibrosis into the surrounding area of the vertebrae. |
|
|
