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)

A 35-year-old woman with features of Kearns-Sayre syndrome consisting of progressive ptosis, ophthalmoparesis, mitochondrial myopathy, and pigmentary retinopathy also had autoimmune polyglandular syndrome type 11 (Addison's disease, autoimmune insulin-dependent diabetes mellitus, Hashimoto's thyroiditis, and primary ovarian failure). There was no history of similarly affected relatives. Analysis of muscle mitochondrial DNA (mtDNA) revealed a 2,532-bp deletion of the type seen in Kearns-Sayre syndrome as well as a heteroplasmic A3243G mutation in the tRNA-Leu(UUR) gene of the type seen in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). The patient's blood and her mother's blood harbored the A3243G mutation but not the deletion, and the maternal grandmother's blood had neither mutation. In muscle, the species of mtDNA harboring the deletion was exclusively associated with the species harboring the A3243G mutation, suggesting that the point mutation predisposed to the large-scale deletion. The mtDNA species with both mutations accounted for 88% of total muscle mtDNA. Other and as yet unrecognized point mutations in mtDNA might also be associated with, and possible causally related to, large-scale mtDNA deletions.
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PMID:MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy. 865 48

Rhinocerebral mucormycosis is a well-described fulminant fungal infection that typically presents acutely in patients with diabetic ketoacidosis or immunosuppression. Chronic presentations of rhinocerebral mucormycosis have also been described. In the chronic infection, the disease course is indolent and slowly progressive, often occurring over weeks to months. The authors report 2 cases of chronic rhinocerebral mucormycosis (CRM) treated at their institution and review 16 other cases reported in the English-language literature. In these cases, the median time from symptom onset to diagnosis was 7 months. The most common presenting features of CRM are ophthalmologic and include ptosis, proptosis, visual loss, and ophthalmoplegia. CRM occurs predominantly in patients with diabetes and ketoacidosis. The incidence of internal carotid artery and cavernous sinus thrombosis is higher in CRM patients than in those with the acute disease, although the overall survival rate for CRM patients is 83%. CRM is clinically distinct from chronic Entomophthorales infection.
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PMID:Chronic rhinocerebral mucormycosis. 884 4

The medical record linkage system for the Rochester Epidemiology Project provided the means to identify 1,444 incidence cases of ischemic stroke and age- and sex-matched controls from the population from 1960 to 1984 to conduct a case-control study nested in the population. A multiple logistic-regression model permitted the estimation of odds ratios of ischemic stroke for each risk factor while adjusting for confounding variables. The final model, in addition to age and date of stroke, included transient ischemic attacks, hypertension, current smoking, atrial fibrillation, ischemic heart disease, mitral valve disease (other than prolapse), and diabetes mellitus. The process identified interactions showing that ischemic stroke incidence for persons with transient ischemic attacks was higher in women than in men and that the risk decreased with increasing age; that the risk of stroke with hypertension and also with current cigarette smoking decreased with increasing age; and that the risk of ischemic stroke with intermittent or persistent atrial fibrillation was similar when hypertension was present, but without hypertension the risk of stroke was more than seven times greater with persistent than with intermittent atrial fibrillation. None of the odds ratios differed over the five quinquennia of the study, and no effect of antihypertensive treatment on stroke incidence could be demonstrated in the population.
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PMID:A population-based model of risk factors for ischemic stroke: Rochester, Minnesota. 896 Jul 21

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

We present a patient with external ophthalmoplegia, bilateral ptosis, progressive muscle weakness with "ragged-red fibres" and mental retardation. Mitochondrial DNA analysis by Southern blot revealed heteroplasmy in muscle for a 7.4 kb deletion. In white blood cells, the deletion was only detectable by PCR. There was no evidence for duplications, nor for multiple deletions in the proband or siblings. PCR analysis did not reveal the presence of a mitochondrial DNA defect in the parents and siblings. Thus, there is no experimental support for a maternally inherited mitochondrial DNA deletion. We consider this a sporadic case with a de novo deletion. Diabetes and complaints of fatigue, also seen in this family, are probably coincidental. Mental retardation has been reported occasionally in patients with mitochondrial deletions, but is not common.
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PMID:A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation. 1054 1

The mechanism of neuropathic pain in the diabetic limb is far from clear. Phantom limb pain likewise is of obscure aetiology. The development of typical pain in an absent leg in a patient with diabetes many years after the amputation stimulates thought as to the mechanism, not only of neuropathic pain, but also of phantom limb pain. A 58-year-old man was diagnosed with type 2 diabetes 44 years after having undergone left below knee amputation for congenital AV malformation, at the age of 13. Eight months before the diagnosis of diabetes he began to complain of pain in the leg on the amputated side-pain very similar to that described in typical diabetic neuropathy. This was followed by similar pain in the right leg. MR scan of the spine revealed a small syringohydromyelia of the thoracic cord in addition to a prolapse of disc at L(5)/S(1) level on the left side, which was first noted 5 years previously. There were no other features of S(1) compression. The typical neuropathic character of the pain involving both the amputated and the intact limbs that developed with the diagnosis of type 2 diabetes suggest that the neuropathic pain may originate from centres higher than peripheral nerves.
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PMID:Diabetic neuropathic pain in a leg amputated 44 years previously. 1056 72

The A3243G mutation of mitochondrial DNA (mtDNA) has been shown to be responsible for or associated with mitochondrial myopathy, encephalopathy, lactic acidosis, strokelike episodes (MELAS) syndrome, diabetes mellitus (DM) and several other neuromuscular diseases. We used polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) to identify the A3243G mtDNA mutation and an electron microscope to examine mitochondrial derangement in the muscle biopsies of a 38-year-old man suspected to have MELAS syndrome with DM. We found great variability in the clinical presentation and in the proportion of mtDNA with the A3243G mutation in the matrilineal family members of the patient. The proband had atypical MELAS syndrome, recurrent vascular headache, and DM (MELASDM), and his mother manifested chronic progressive ptosis and DM (CPPDM). Brain magnetic resonance imaging of the proband showed high signal intensity in the left temporoparieto-occipital area on T2 weighted images (T2WI). The blood lactate level ranged from 2.32 to 4.70 mmol/l, and two-hour postprandial glucose ranged from 124 mg/dl to 148 mg/dl. The blood lactate and postprandial glucose of the proband's mother were 3.15 mmol/l and 192 mg/dl, respectively. Electron microscopic examination of a muscle biopsy of the patient showed abnormal mitochondria with decreased density of cristae and membrane degeneration. No ragged-red fibers were detected in muscle upon staining with modified Gomori trichrome. The hair follicles and blood cells of the patient and his mother showed the A3243G mutation in the tRNA(Leu)(UUR) gene. The proportions of the mutant DNA in the hair follicles and blood cells of the proband were 36.8% and 35.2%, respectively, and those of the patient's mother were 28.8% and 13.9%, respectively. We conclude that the A3243G mtDNA mutation may manifest with MELASDM or CPPDM in different matrilineal members of the same family as a result of differences in random segregation of the heteroplasmic A3243G mutant mtDNA in the affected tissues of patients.
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PMID:Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA. 1064 55

We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.
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PMID:Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia. 1068 96

The purpose of this study was to examine the association between pessary use, smoking and changes in the vaginal flora. Patients using pessaries were age matched with non-pessary using controls. All candidates examined were women attending the Mount Sinai Hospital, Toronto, for genitourinary problems. Vaginal cultures were routinely performed on all women attending the unit, irrespective of symptoms. Forty-four pessary users were age matched with 176 controls (4 controls per case). The mean age was 60.1 +/- 12.6 years, and 15% of these were premenopausal. The duration of pessary use ranged from 0.5 to 8 years (mean 3.3 +/- 1.7). Weight, parity, smoking status, diabetes mellitus, thyroid disease, UTI and postvoid residual urine volume were not significantly different between pessary users and controls. Bacterial vaginosis (BV) was noted in 32% of pessary users, versus 10% of controls. The relative risk of developing BV in pessary users was 3.3 (OR, 4.37; 95% CI, 2.15-9.32), P = 0.0002. Smoking independently affected the vaginal flora, increasing the relative risk of developing BV to 2.9 (OR, 3.78; 95% CI, 2.05-8.25), P = 0.0013. It was concluded that pessary use is a very effective and conservative method for the treatment of genital prolapse. However, we found that the presence of a foreign body was associated with changes in the vaginal flora, thereby increasing the odds of developing bacterial vaginosis to 4.37; this was further compounded by smoking.
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PMID:Bacterial vaginosis increases in pessary users. 1100 73

The aim of this case-control study was to identify etiologic factors predictive for the development of severe pelvic organ prolapse. Three hundred and sixty-eight controls from a database describing pelvic organ support in the general population were identified as having known good pelvic organ support. Eighty-seven cases were identified from a urogynecology clinic with severe pelvic organ prolapse. The risk of severe prolapse was modeled using stepwise multiple logistic regression analysis. Additional analyses using chi2 and two-sample t-tests were conducted to determine differences in means for individual variables. Variables examined included age, gravidity, parity, number of vaginal deliveries, weight of largest infant delivered vaginally, menopause status, race, body mass index prior to pelvic surgery, and medical illnesses. The following four variables were selected in the regression analysis as predicting severe prolapse: age, weight of largest vaginal delivery, hysterectomy and previous prolapse surgery. Other variables that demonstrated statistically significant differences between groups by chi2 and two-sample t-tests were gravidity, parity, number of vaginal deliveries, menopausal status, race, history of incontinence surgery and the presence of hypertension. Variables that did not demonstrate any significant differences were body mass index, the presence of chronic obstructive pulmonous disease and diabetes mellitus. Advancing age, increasing weight of infants delivered vaginally, a history of hysterectomy and a history of previous prolapse surgery were found to be the strongest etiologic predictors of severe pelvic organ prolapse in our population.
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PMID:Case-control study of etiologic factors in the development of severe pelvic organ prolapse. 1145 Oct 7


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