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)

Statistical surveys have established that, in France, hysterectomy was carried out too frequently: 50 to 70,000 hysterectomies (perhaps only 40,000) are carried out each year in our country. This fact, together with the deleterious psychological effects of this operation, have urged the authors to express some remarks on the current practice of hysterectomy in France. The currently approved indications are the following: invasive cancer, benign lesions with intractable disabling symptoms and technical requirements (e.g. cure of prolapse in the elderly). Bleeding due to fibromyomas should be managed with conservative means as much as possible. Infections are within the scope of medical treatment. When an hysterectomy is indicated, the vaginal route should be preferred whenever possible, due the lesser impact on the body image and personality. The adverse psychological effects of hysterectomy are due to several factors: fear of the operation, pain, possible complications, breach of the femininity, alteration of the body image, fear of menopause and ageing. These effects could be reduced by an accurate information of the patient on the actual consequences of the operation, which are far from considerable, specially if the hormonal secretion is preserved. Also, a certain period of time between the decision and the operation might help to further reduce this psychological impact.
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PMID:[Hysterectomy. Indications, abuse, psychological impact]. 870 74

Infections are an increasing problem in the elderly population, because of the often atypical presentation and the more frequent occurrence of complications, which lead to increased morbidity and mortality. The increased prevalence of infections in the elderly is due to a number of factors: increased exposure to micro-organisms (especially in nursing homes); degeneration of various organs (atherosclerosis, pulmonary emphysema, diverticulosis, prolapse); decreased immune response; concomitant diseases (e.g. diabetes mellitus) and (or) use of medication. There is often a delay in the diagnosis because the presentation of infection in the elderly is frequently atypical and symptoms are attributed to old age, rather than to infection. Treatment may be hampered by increased resistance of micro-organisms, interaction with other drugs and toxicity problems.
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PMID:[Infections in elderly patients]. 955 Jul 96

Despite advances in perinatal medicine in the past decade, the diagnosis and treatment of premature rupture of membranes remain controversial. Premature rupture occurs in 2.7-7.0% of pregnancies and most cases occur spontaneously without apparent cause. The disparity in reported rates of premature rupture is due to differences in the definition and diagnostic criteria for premature rupture and lack of comparability in the populations studied. Mexico's National Institute of Perinatology has adopted the definition of the American COllege of Gynecology and Obstetrics which views premature rupture as that occurring before regular uterine contractions that produce cervical dilation. 8.8% of its patients have premature rupture according to this definition. 20% of cases occur before the 36th week of pregnancy. Treatment of rupture occurring before 37 weeks must balance the threat of amniotic infection with the dangers of premature birth. Infections appear more common in low income patient populations. Chorioamnionitis is a serious complication of pregnancy and is the main argument against conservative treatment of premature rupture. The rate of maternal infection is directly related to the time elapsing between rupture of the membranes and birth. The rate increases after the 1st 24 hours and is at least 10 times higher after 72 hours. But recent studies suggest that there is no considerable increase in infection if vaginal explorations are avoided and careful techniques are used in treating the patient. Those who advise conservative treatment believe that prenatal outcomes are better because respiratory disease syndrome due to prematurity is avoided. Conservative management requires a white cell count at least every 24 hours and measurement of pulse, maternal temperature, and fetal heart rate ideally every 4 hours. Perinatal mortality rates due to premature rupture of membranes range from 2.5-50%. The principal causes are respiratory disease syndrome, infection, asphyxia, and congenital malformations. Neonatal sepsis occurs in about 5% of live births following premature rupture, but the rate triples after 24 hours, especially in premature infants. The rate of neonatal asphyxia also increases considerable after 24 hours. Congenital malformations, prolapse of the cord, and pelvic presentation are positively associated with premature rupture of membranes. If the decision is made to interrupt the pregnancy, it should be done between 12-24 hours after rupture because the risks of infection and respiratory difficulty are most balanced at that point. Vaginal deliveries should be preferred only if conditions are favorable for a prompt delivery. The gestational age, presence of infection, obstetric condition of the mother, and indication for hysterectomy are the most important points to consider i management of premature rupture.
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PMID:[Premature rupture of membranes and chorioamnionitis]. 1234 87

Congenital myasthenic syndromes are caused by different genetic defects affecting proteins expressed at the neuromuscular junction. Recently, the first molecular genetic defect resulting in a presynaptic congenital myasthenic syndrome has been reported: Recessive loss-of-function mutations in CHAT, the gene encoding choline acetyltransferase, were described in five congenital myasthenic syndrome families. In this study, we investigated three patients from two independent Turkish kinships. Clinically, all patients presented with moderate myasthenic symptoms including ptosis and muscle weakness with increased fatigability. Multiple episodes of sudden apnea were reported for all patients. One child suffering from a second, unrelated disorder, i.e. hepatocellular carcinoma, showed a severe myasthenic phenotype, requiring permanent ventilation. Genetically, we identified a novel missense mutation (I336T) in the CHAT gene homozygously in all three patients. Haplotype analysis revealed that the mutant allele cosegregates with the clinical phenotype in both families (maximum combined two-point LOD-score of 2.46 for D10S1793). In summary, we confirm that CHAT mutations are responsible for a clinically distinct form of congenital myasthenic syndrome, characterized by episodic apnea. Infections and stress may lead to a life-threatening failure of neuromuscular transmission in congenital myasthenic syndrome with episodic apnea. The observation of the same mutation (I336T) in two independent Turkish kinships may suggest a common origin, i.e. founder.
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PMID:Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. 1260 6