Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical, immunological and genetic parameters were studied in 73 Jamaican patients with myasthenia gravis (MG). The reported bimodal clinical distribution of females with early onset of disease and males with late onset was not observed. The female to male ratio was 2:1. The most frequent manifestations of disease were ptosis (84.9%), general muscle weakness (68.5%), bulbar symptoms (41.1%) and diplopia (32.9%). Unusual presenting features such as unilateral ptosis, recurrent chest infection and stumbling while walking resulted in diagnosis being missed in 5.8% of cases. The sensitivity of radioimmunoassay in detecting acetylcholine receptor antibody (AchR-Ab) in sera from a subgroup of 35 MG patients was 71.4% whilst that of the ELISA was only 14.2%. There was no correlation between concentration of AchR-Ab and severity of disease. Similarly, there was no association between HLA-type, thymic pathology and course of disease. HLTV-I could not be implicated in the pathogenesis of this disease. There was a paucity of other associated autoimmune conditions among MG patients. Thymectomy was an important therapeutic modality in that improvement was observed in 22 cases and remission in 11.
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PMID:Myasthenia gravis in Jamaica. Clinical, immunological and genetic studies. 178 95

Ivalon sponge rectopexy is a safe reliable procedure in the management of rectal prolapse. Sutured rectopexy is simpler and avoids the use of foreign material. Sutured rectopexy is mandatory if synchronous resection is to be considered. Sixty-three patients (62 women) with full-thickness rectal prolapse were entered into a prospective randomized trial of Ivalon sponge rectopexy (31 patients) versus sutured rectopexy (32). Twenty patients (32 per cent) had coexistent incontinence (ten in each group). The operation was performed in the standard manner with a sutured rectangle of sponge or sutures alone placed along the length of the sacrum. Postoperative morbidity occurred in nine patients (14 per cent) of whom three underwent a sutured procedure and six Ivalon rectopexy: wound infection in three, chest infection in two, urinary tract infection in two and thromboembolism in two. There were no deaths within 30 days. At a median follow-up of 47 months prolapse had recurred in two patients (3 per cent), one in each group, 14 (22 per cent) suffered from incontinence (of whom five had undergone a sutured procedure), while 25 (40 per cent) had developed constipation (of whom 15 had received Ivalon rectopexy). The medium-term results of rectopexy by suture alone are equivalent to those obtained following the conventional Ivalon procedure. These data suggest that Ivalon rectopexy could now be abandoned.
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PMID:Prospective randomized trial of Ivalon sponge versus sutured rectopexy for full-thickness rectal prolapse. 804 18

A 15-year-old Chinese male with infantile-onset hypotonia, developmental delay, ptosis, and oculogyric episodes presented with a history of chronic diarrhoea since the age of 5 years. At presentation, he had an exacerbation of diarrhoeal symptoms resulting in dehydration and malnutrition with a concurrent severe chest infection. In view of his infantile-onset hypotonia, oculogyric crises, and protracted diarrhoea, an autonomic disturbance related to neurotransmitters was suspected. Urine organic acid profiling was compatible with aromatic L-amino acid decarboxylase deficiency. The diagnosis was confirmed based on cerebrospinal fluid analysis and genetic mutation analysis. The patient was treated with a combination of bromocriptine, selegiline, and pyridoxine; a satisfactory reduction in diarrhoea ensued. Our report highlights the importance of urine organic acid screening in infantile-onset hypotonia, especially when accompanied by oculogyric crises, and severe diarrhoea which could manifest as a result of autonomic disturbance.
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PMID:A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency. 2471 72