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)

This study correlated Doppler resistive indices (RIs) with maximum urethral closure pressures (MUCPs) in women with stress urinary incontinence. We hypothesized that urethral blood flow would be inversely correlated to urethral closure pressures. Fifty-three women underwent spectral Doppler waveform analyses of periurethral vasculature to calculate RI. Urethral morphology including pubovesicular length (PVL) with and without cough was measured. MUCPs were obtained according to International Continence Society guidelines. Physical exam and history were also obtained. Correlation coefficients were calculated for comparisons of Doppler measurements and closure pressures. Fifty patients were required to detect a difference between no correlation and a modest correlation of 0.38 with 80% power and alpha of 0.05. Significance is set at p<0.05. Measurements were reproducible between Doppler waveforms and MUCP measurements (all p=NS). RI was not correlated with age, parity, MUCP, Incontinence Impact Questionnaire-7 scores, urethral length, or urethral width (all p=NS). RI and MUCP were likewise not associated with history of diabetes, hypertension, or anterior vaginal prolapse to or beyond the hymen (all p=NS). MUCP was negatively correlated with age (r=-0.33, p=0.01) even when controlled for hormonal status (ANCOVA, p=0.003) and positively correlated with urethral/bladder neck diameter (r=27, p=0.05), PVL (r=0.30, p=0.03), and PVL with cough (r=0.36, p=0.009).
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PMID:A comparison of periurethral blood flow resistive indices and urethral closure pressure of incontinent women. 1652 Aug 91

We report a 6-year-old male with left-sided ptosis, aniscoria and an initially missed slow growing left-sided neck mass, which was surgically excised when he was 9 years old and confirmed to be a paraganglioma. Seven years later he developed recurrent symptoms and was found to have a recurrence in the anterior mediastinum. We also report on all cases of cervical paragangliomas registered with the Manchester Children's Tumour Registry (MCTR) for the 50-year period 1954-2004. Paragangliomas are very rare tumours in the head and neck but should be considered in the differential diagnosis of neck masses especially when presenting with Horner syndrome. Recurrent symptoms and signs of hypertension herald recurrence. As these tumours can form part of a familial syndrome, long-term follow-up is necessary. Family members should be screened for early detection.
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PMID:Cervical paraganglioma--a case report and review of all cases reported to the Manchester Children's Tumour Registry 1954-2004. 1676 19

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with highly variable expression generally ascribed to random factors. However, evidence is presented for patterns suggesting non-stochastic processes as follows: (1) We have seen a MZ twin pair concordant for renal vascular hypertension, and another for unilateral ptosis. Other concordances have been reported, including both malformations and tumors, and combinations as well. (2) Four children were seen with a distinct ipsilateral association of glaucoma or iris anomaly, optic glioma, plexiform neurofibromas arising from the trigeminal nerve and its branches, and sphenoid dysplasia. Other cases in the literature support milder forms of this association. (3) We saw six children with apparent gynecomastia or premature thelarche without endocrine abnormalities. Tissue samples from four of these showed an unusual fibrous plexiform neurofibroma. Interestingly, five of the six cases were African Americans, and constitutional factors affecting fibrous reactions may also be involved here.A tentative hypothesis is presented suggesting vascular fields involving defined areas that can: (1) Support tumor growth. They would be the "soil" determining the ability and the extent of growth. There would, however, still be a need for a "second hit" tumor transformation. (2) Affect blood supply to organs, creating structural anomalies. NF1 involves a vasculopathy, and would predispose to vulnerabilities of such fields. Genetic factors could induce superimposed susceptibilities of specific fields, leading to twin concordances. "Hits" affecting specific fields would increase the likelihood of multiple abnormalities that could include both tumors and structural findings. Finally, tumors may follow the contours of existing fields. The breast is an area normally primed for growth, and the observation of clitoromegally secondary to tumor involvement suggests that such fields exist elsewhere.
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PMID:Non-random associations and vascular fields in neurofibromatosis 1: a pathogenetic hypothesis. 1677 Aug 9

Although there are indications that beta-blockers affect the skeletal muscle in therapeutic dosages, their influence on mitochondrial disorders is unknown. A 52-year-old woman developed double vision, myalgias, muscle cramps, and hip and thigh muscle stiffness. Clinical neurologic examination revealed ptosis, dysarthria, sore neck muscles, weakness and wasting of the thighs, and generally brisk tendon reflexes. Lactate stress testing was significantly abnormal. Needle electromyography was nonspecifically abnormal and myopathic. Muscle biopsy showed mild myopathic changes, target fibers, and a single COX-negative fiber. Probable mitochondrial disorder was diagnosed. The patient had been on 30 mg of propranolol during 7 years for arterial hypertension. Shortly after discontinuation of the drug, her double vision gradually disappeared, myalgias and muscle cramps gradually resolved, and the patient reported an increase in muscle mass on repeated follow-ups. Long-term administration of propranolol may aggravate a mitochondrial disorder. Discontinuation of propranolol may result in a gradual resolution of these adverse reactions.
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PMID:Mitochondrial disorder aggravated by propranolol. 1686 49

Uterine prolapse is a significant public health problem in Nepal. The aim of this study was to determine the prevalence of uterine prolapse and to define possible risk factors for this disease in the Kathmandu Valley of Nepal. This clinical report consists of an analysis of data from Dr. Iwamura Memorial Hospital and Research Center (IMHARC) in Bhaktapur, between July 1 and September 30, 2006. This analysis was restricted to a sample that included all women with complaints of uterine prolapse (second- or third-degree prolapse) diagnosed and treated at the IMHARC. During a 3-month period, 96 women were diagnosed and treated with uterine prolapse. The median age at the time of clinical presentation was 50 years, and the median maternal weight was 45 kg. In average, the women gave birth to four children vaginally. Most of the affected women were smoking, and most of them were postmenopausal. Thirty-five percent of the affected patients had a chronic obstructive pulmonary disease (COPD), 16% suffered from hypertension and 5% had diabetes mellitus. The majority of the women with uterine prolapse were of Newari origin (84%), and nearly all patients reported that they were working heavily during pregnancy as well as in the postpartum period (87%). We found several risk factors for uterine prolapse in Nepal. Especially extensive physical labor during pregnancy and immediately after delivery, low availability of skilled birth attendants, smoking while having COPD and low maternal weight due to lack of nutritious food are mainly responsible for this common disease. In our opinion, extensive information, prevention programs and early management of genital prolapse should be the first steps to reduce this significant social and public health problem in Nepal.
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PMID:Risk factors for uterine prolapse in Nepal. 1733 34

Meckel syndrome (MKS) is a rare lethal autosomal recessive disorder characterized by the presence of occipital encephalocele, cystic kidneys, fibrotic changes of the liver and polydactyly. Joubert syndrome (JS)-related disorders (JSRDs) or cerebello-oculo-renal syndromes (CORS) are a group of recessively inherited conditions characterized by a molar tooth sign (MTS) on cranial MRI, a set of core clinical features (developmental delay/mental retardation, hypotonia, ataxia, episodic breathing abnormalities, abnormal eye movements) and variable involvement of other systems including renal, ocular, central nervous system, craniofacial, hepatic, and skeletal. A significant clinical overlap between MKS and JSRD/CORS has been recognized in the literature. We describe a group of 10 Hutterite patients, of which 7 had been previously diagnosed with MKS, with a JSRD. Clinical features include variable early mortality, cognitive handicap, a characteristic dysmorphic facial appearance, hypotonia, ataxia, abnormal breathing pattern, nystagmus, and MTS on MRI. Additional features include occipital encephalocele, posterior fossa fluid collections resembling Dandy-Walker malformation, hydrocephalus, coloboma, and renal disease. This JSRD is a recognizable dysmorphic syndrome characterized by hypertelorism, deep-set eyes, down-slanting palpebral fissures, ptosis, arched eyebrows with medial sparseness, square nasal tip, short philtrum with tented upper lip, open mouth with down-turned corners, and posteriorly rotated low-set ears. Renal disease is present in 70% of patients and is characterized by cystic kidneys, abnormalities in renal function and hypertension. Homozygous deletions of NPHP1 and the known loci for JS/JSRD and MKS were excluded by identity-by-descent mapping studies suggesting that this condition in the Hutterites represents yet another locus for a JSRD.
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PMID:Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. 1760 1

We report a 40-year old woman with bilateral partial ptosis, complete external ophthalmoplegia, and weakness and fatiguability of upper limbs. She was on treatment for hypertension for 5 months at the time of admission. She was found to have generalised myasthenia gravis and membranous nephropathy with end-stage renal disease. Her symptoms and signs improved within 2 months on treatment with neostigmine and prednisolone. It is postulated that either thymic hyperplasia or the subclinical stage of a thymoma may be the underlying aetiological factor in this patient.
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PMID:Case of generalised myasthenia gravis with membranous nephropathy. 1859 Feb 68

A rare case of neurosarcoidosis presenting as an isolated quadrigeminal plate mass without systemic manifestation of this disease is reported. This 26-year-old man presented with symptoms of acute intracranial hypertension including headache, morning vomiting as well as a right homonymous hemianopsia. Magnetic resonance imaging (MRI) showed an expansive tectal mass causing hydrocephalus secondary to an aqueductal obstruction. An external ventricular drainage was inserted and the mass, postulated to be a glioma, was removed through an occipital transtentorial craniotomy. Histopathological examination revealed numerous sarcoid granulomas. Postoperative course was relevant for bilateral hypoacusis and tinnitus, blurred vision, bilateral palpebral ptosis and bilateral internuclear ophthalmoplegia. Chest X-ray was normal. Postoperative thoracic computed tomography (CT) scan showed mediastinal adenopathies. Lung function tests were normal. Angiotensin converting enzyme (ACE) cerebrospinal fluid (CSF) blood ratio was normal. Postoperative treatment and follow-up included corticosteroids, serial lung function tests and cerebral MRI. Neurosarcoidosis may present with protean clinical manifestations and unusual radiological features. This rare diagnosis has to be kept in mind when facing isolated intracerebral mass lesions.
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PMID:Neurosarcoidosis presenting as an isolated mass of the quadrigeminal plate. 1863 66

A 53-year-old woman with a history of hypertension was referred for an echocardiogram by her primary care physician after an unspecified abnormal ECG. The echocardiogram showed normal left ventricular size and function; however, an isolated cleft posterior mitral valve leaflet was identified with concomitant bileaflet prolapse and mild mitral regurgitation. She was subsequently referred to a cardiologist for clinical evaluation. Cleft mitral valve leaflet (CMVL) is an uncommon congenital cause of mitral regurgitation. Clefts, defined as slit-like holes or defects, are hypothesized to be a result of incomplete expression of an endocardial cushion defect which most commonly involves the anterior mitral valve leaflet with a paediatric incidence of 1:1340. Clefts affecting only the posterior mitral valve leaflet are extremely rare with only four cases being reported in the medical literature. Important co-existing anomalies with either posterior and/or anterior CMVL include counterclockwise rotation of the papillary muscles, the presence of an accessory papillary muscle or mitral valve leaflet, atrial septal defects, and mitral valve prolapse. Regurgitation from CMVL can lead to important physiological and anatomical changes within the cardiac system. Regurgitation results from blood flow directly through the cleft itself or from malcoaptation from accessory chordae with or without papillary muscle distortion. Significant chronic mitral regurgitation elevates left atrial filling pressures and leads to chamber enlargement and eccentric left ventricular hypertrophy. Early detection through two-dimensional echocardiography can provide accurate anatomical images of the various mitral valve structures and identify associated congenital anomalies. Early surgical correction is preferred before mitral regurgitation causes unfavourable remodelling. Most mitral valve cleft defects can easily be repaired by suturing the edges of the cleft. If a cleft resection leads to limited residual valve tissue, the leaflet of the mitral valve can be reconstructed using an autologous pericardial patch pre-treated with buffered glutaraldehyde. Posterior CMVL is an uncommon but clinically important cause of mitral insufficiency. Early recognition of this rare clinical entity and possible co-existent anomalies can identify the patients who would benefit from surgical intervention before compensatory left ventricular remodelling and contractile dysfunction develop.
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PMID:Isolated cleft posterior mitral valve leaflet: an uncommon cause of mitral regurgitation. 1866 88

We encountered a surgical case of aortic valve prolapse caused by a fissure formed in the commissural region and coronary cusp, and we achieved a favorable outcome. On pathologic examination, the fissured valve was found to be myxoid degeneration with ruptured elastic fibers and clustering of foamy macrophages, and it was diagnosed as an atherosclerotic change not associated with rheumatic change. The fissure appeared to develop because of hypertensive stress in a region rendered vulnerable by atherosclerosis. Although this mechanism is atypical, it should be recognized that poorly controlled hypertension can cause aortic valve prolapse and induce acute heart failure.
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PMID:An atypical cause of aortic valve prolapse. 1969 39


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