Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018133 (graft-versus-host disease)
 18,032 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Between 1985 and 1992, 28 patients of acute type A aortic dissection were operated on at our department. Our surgical strategy for this disease is "limited aortic resection", that is to avoid replacement of the entire arch except for the patients with arch tear that cannot be resected without total arch replacement. There were one operative mortality due to post transfusion GVHD, and ten late mortality (rupture of the residual dissecting aneurysm 3; complication of the late reoperation 3; cerebrovascular disease 2; pulmonary infection 2). Actuarial survival rate of all cases is 92.9%, 62.9%, and 58.4% at 1, 5, and 10 years, respectively. Comparing the patients whose primary tear was resected or not resected, there was no difference in the rate of residual dissection (12/16, 75% vs 5/6, 83.3%; primary tear resected vs not resected), the rate of late reoperation (3/16, 18.8% vs 1/6, 16.7%), nor actuarial survival rate (90.5% vs 100%, 66.7% vs %, 53.6% vs 71.4%, at 1, 5, 10 years, respectively). There were three cases with Marfan's syndrome, and all three cases died of the rupture of the residual dissection. We will follow the policy of the "limited aortic resection" unless the operative mortality of the entire arch replacement is proved as good as that of the ascending or hemiarch replacement. Because of the poor late results of the patients with Marfan's syndrome, entire arch replacement at the initial surgery and aggressive reoperation for the residual dissection is necessary.
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PMID:[Late results of acute aortic dissection: analysis of the patients longer than five years after the operation]. 974 91

The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications. Lipodystrophy refers to a group of rare diseases characterized by the generalized or partial absence of adipose tissue, and occurs with or without hypertrophy of adipose tissue in other sites. They are classified as being familial or acquired, and generalized or partial. The genetically determined partial forms usually occur as Dunnigan syndrome, which is a type of laminopathy that can also manifest as muscle, cardiac, neuropathic or progeroid involvement. Gene mutations encoding for PPAR-gamma, Akt2, CIDEC, perilipin and the ZMPSTE 24 enzyme are much more rare. The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications. Glycosylation disorders are sometimes involved. Some genetically determined forms have recently been found to be due to autoinflammatory syndromes linked to a proteasome anomaly (PSMB8). They result in a lipodystrophy syndrome that occurs secondarily with fever, dermatosis and panniculitis. Then there are forms that are considered to be acquired. They may be iatrogenic (protease inhibitors in HIV patients, glucocorticosteroids, insulin, graft-versus-host disease, etc.), related to an immune system disease (sequelae of dermatopolymyositis, autoimmune polyendocrine syndromes, particularly associated with type 1 diabetes, Barraquer-Simons and Lawrence syndromes), which are promoted by anomalies of the complement system. Finally, lipomatosis is currently classified as a painful form (adiposis dolorosa or Dercum's disease) or benign symmetric multiple form, also known as Launois-Bensaude syndrome or Madelung's disease, which are sometimes related to mitochondrial DNA mutations, but are usually promoted by alcohol. In addition to the medical management of metabolic syndrome and the sometimes surgical treatment of lipodystrophy, recombinant leptin provides hope for genetically determined lipodystrophy syndromes, whereas modifications in antiretroviral treatment and tesamorelin, a GHRH analog, is effective in the metabolic syndrome of HIV patients. Other therapeutic options will undoubtedly be developed, dependent on pathophysiological advances, which today tend to classify genetically determined lipodystrophy as being related to laminopathy or to lipid droplet disorders.
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PMID:How to diagnose a lipodystrophy syndrome. 2274 2