Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 21-year-old woman had sterility due to amenorrhoea-galactorrhoea with hyperprolactinaemia and hypoplastic ovaries. The sella turcica was asymmetrical but tomograms were suggestive of a congenital appearance. There was no suprasellar expansion. Treatment with bromocriptine and HMG resulted in pregnancy. Acute pituitary failure occurred at the 10th week, revealing an adenoma. The pregnancy proceeded to term after hypophysectomy. This complication, the first reported under the effects of bromocriptine, may serve as a reminder of the precautions to be taken during pregnancy in a hyperprolactinaemic woman.
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PMID:[Acute pituitary failure as the presentation of a prolactin cell adenoma during a pregnancy made possible by bromocriptine (author's transl)]. 60 Jul 24

In brief, the classic form of Wilson's disease (WD) is an autosomal-recessive condition with hepatic, neurologic, psychiatric and systemic manifestations. However, the diagnosis should not be excluded because of a family history consistent with autosomal-dominant transmission. The latest next-generation sequencing (NGS) studies have demonstrated a gap between phenotype and genetic prevalences, and also suggest that WD may still be underdiagnosed. In a majority of WD patients, early recognition and appropriate treatment can result in resolution of symptoms and/or improved quality of life. Thus, finding WD in patients aged>40 years or with thrombocytopenia, hemolytic anemia, unexplained bone pain, amenorrhea, repeated spontaneous abortion or renal lithiasis is of major importance. These symptoms can all be found on their own or in association with mild-to-incapacitating neurological and/or neuropsychiatric manifestations. While brain lesions of the lenticular, midbrain and dentate nuclei are classic, white-matter changes and cortical lesions may also be observed: these are often asymmetrical with frontal lobe predilection and, when extensive, associated with a poor prognosis. These lesions are due mainly to copper deposition, but may also be related to focal accumulation of other metals, such as iron and manganese. A new biological marker called 'relative exchangeable copper' (REC) facilitates diagnosis and familial screening. Patient monitoring is important to ensure treatment adherence, efficacy and tolerability, and to detect rare complications such as copper deficiency induced by chronic copper chelation and hepatocarcinoma in patients with cirrhosis. Currently used treatments are copper chelators and zinc salts. Therapeutic perspectives are liver transplantation, new copper chelators as tetrathiomolybdate, hepatocyte/tissue transfer and gene therapy.
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PMID:The hidden face of Wilson's disease. 3024 12