Hyperthermia, in its advanced state referred to as heat stroke or sunstroke, is an acute condition which occurs when the body produces or absorbs more heat than it can dissipate. It is usually caused by prolonged exposure to high temperatures.
The heat-regulating mechanisms of the body eventually become overwhelmed and unable to effectively deal with the heat, causing the body temperature to climb uncontrollably. Hyperthermia is a medical emergency which requires immediate treatment. (...)
Home > D. General pathology
D. General pathology
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hyperthermias
23 March 2009 -
environmental diseases
23 March 2009WP
Definition: Environmental diseases are diseases that can be directly attributed to environmental factors (as distinct from genetic factors or infections ).
Apart from the true genetic monogenic diseases, environmental diseases may determine the development of disease in those genetically predisposed to a particular condition.
Agents
diet
toxins
radiations
chemicals
If a disease process is concluded to be the result of a combination of genetic and environmental factor (...) -
occupational diseases
23 March 2009Accidents, illness, and premature deaths threaten the health of 130 million workers in the United States. Occupational health risks are even greater in developing countries, where children and women constitute a larger proportion of the work force. In the United States, the annual rate of occupational injuries is 7400 per 100,000 workers.
The overall fatality rate is 4.8 per 100,000 workers; the highest rates occur in the mining, agricultural, construction, transportation, and public (...) -
Pierson syndrome
3 November 2008Etiology
germline mutation in the gene encoding laminin beta-2 (LAMB2) (MIM.150325) causes Pierson syndrome and congenital nephrotic syndrome with or without ocular abnormalities. -
RYR1-associated malignant hyperthermia
5 August 2008RYR1 gene codes for ryanodine receptor (MIM.180901).
Mutations of the RYR1 gene on chromosome 19q, encoding for ryanodine receptor type 1, account for the majority of cases. This receptor is a skeletal muscle calcium channel located in the sarcoplasmic reticulum, responsible for the release of calcium in the sarcoplasmic reticulum, allowing muscle contraction.
Mutation of this channel then leads to an abnormal sustained increase in myoplasmic calcium concentration in skeletal muscle, (...) -
rare diseases
2 July 2008References
Messiaen C, Le Mignot L, Rath A, Richard JB, Dufour E, Ben Said M, Jais JP, Verloes A, Le Merrer M, Bodemer C, Baujat G, Gerard-Blanluet M, Bourdon-Lanoy E, Salomon R, Ayme S, Landais P. CEMARA: a Web Dynamic Application Within a N-tier Architecture for Rare Diseases. Stud Health Technol Inform. 2008;136:51-6. PMID: #18487707# -
oxidative stress markers
30 May 2008Types (Examples)
F2-isoprostanes
8-OHdG
oxidized and reduced glutathione
See also
oxidative stress -
Woakes syndrome
16 May 2008References
Caversaccio M, Baumann A, Helbling A. Woakes’ syndrome and albinism. Auris Nasus Larynx. 2007 Jun;34(2):245-8. PMID: #17182205#
Groman JD, Bolger W, Brass-Ernst L, Macek M Jr, Zeitlin P, Cutting G. Recurrent and destructive nasal polyposis in 2 siblings: a possible case of Woakes’ syndrome. Otolaryngol Head Neck Surg. 2004 Dec;131(6):1009-11. PMID: #15577807#
Abbud-Neme F, Reynoso VM, Deutsch Reiss E. Woake’s syndrome. A case report in a teenager. Int J Pediatr (...) -
systemic amyloidosis
6 February 2008systemic amyloidoses
Images
systemic amyloidosis: deposits within vessel walls https://twitter.com/AnnieMorrisonMD/status/766367955542155264
Definition: The amyloidoses represent a group of acquired or inherited disorders characterized by the pathologic deposition of wild-type or mutated proteins as fibrils within the kidney or other vital organs/tissues throughout the body.
Since at lease 25 biochemically distinct amyloidogenic
molecules have been identified, of which 9 (...) -
CDG2C
28 November 2007leukocyte adhesion deficiency type 2 (LAD2)
