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BIBLIOGRAFIA
1) ‘Orphanet: Sindrome Di Werner’. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=IT&Expert=902.
2) ‘Werner Syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program’.
https://rarediseases.info.nih.....gov/diseases/7885/in
3) Werner Syndrome. NORD (National Organization for Rare Disorders) https://rarediseases.org/rare-....diseases/werner-synd
4) Oshima, Junko, Julia M. Sidorova, and Raymond J. Monnat. ‘Werner Syndrome: Clinical Features, Pathogenesis and Potential Therapeutic Interventions’. Ageing Research Reviews 33 (January 2017): 105–14. https://doi.org/10.1016/j.arr.62016.03.002.
5) Genetics Home Reference. ‘WRN Gene’.
https://ghr.nlm.nih.gov/gene/WRN.
6) Lautrup Sofie, Domenica Caponio, Hoi-Hung Cheung, Claudia Piccoli, Tinna Stevnsner, Wai-Yee Chan, and Evandro F. Fang. ‘Studying Werner Syndrome to Elucidate Mechanisms and Therapeutics of Human Aging and Age-Related Diseases’. Biogerontology 20, no. 3 (June 2019): 255–69. https://doi.org/10.1007/s10522-019-09798-2.
7) Werner Syndrome Treatment & Management: Medical Care, Consultations. (2020). Medscape. https://emedicine.medscape.com..../article/1114125-tre


00:00 | Generalità
01:51 | Eziopatogenesi
04:50 | Epidemiologia
06:22 | Clinica
07:52 | Diagnosi
08:30 | Terapia
10:02 | Conclusioni
11:16 | Bibliografia

Do you want to know what happened to villain of movie YASHODA Varalakshmi sarath kumar ? This video tells you what adult progeria is? it is also known an werner syndrome

Its incidence is around 1 in 1 lakh live births. A rare genetic anamoly mutation in WRN gene on chromosome 8.

There is a defect in the protein which repairs the DNA from oxidative stress. This leads to fast damage to genetic sequence resulting in early aging.

There is no cure for this disease and treatment is entirely symptomatic.





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Title: Syndrome, Werner

Syndrome, Werner: A premature aging disease that begins in adolescence or early in adulthood and results in apparent old age by 30-40 years of age. The characteristic features of Werner syndrome include short stature, premature graying and balding, wizened face, beaked nose, cataracts, scleroderma-like skin changes (especially in the extremities), subcutaneous calcification (deposits of calcium beneath the skin), premature arteriosclerosis, muscular atrophy and tendencies to diabetes mellitus and to tumors (especially, osteosarcoma and meningioma). The disorder is inherited as an autosomal recessive trait. Cells from patients with Werner syndrome have a shorter lifespan in cell culture than do normal cells. The gene for Werner syndrome, symbolized WRN, is on chromosome 8 (in the region of bands 8p12-p11.2. It is a RECQL2 gene which encodes what is termed a RecQ DNA helicase. Bloom syndrome, which has features quite different from those of Werner syndrome, is caused by defects in another human RecQ-like helicase, RECQL3. Werner syndrome has been much studied as a genetic model of aging. It is named for the German physician Otto Werner (1879-1936). In his doctoral dissertation in 1904, Werner described 4 sisters with cataracts and scleroderma-like skin. The name Werner's syndrome was first used in 1934 by two Americans, BS Oppenheimer and Kugel VH, who rediscovered Werner's dissertation.

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Link to case: https://radiopaedia.org/cases/....herlyn-werner-wunder

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