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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The author reports on four patients (one male, three females) from the same kindred with a newly recognized autosomal recessive condition involving striated and smooth muscle that has been designated oculogastrointestinal muscular dystrophy. It is characterized by ptosis, ophthalmoplegia, and progressive intestinal pseudo-obstruction leading to malnutrition and death before 30 y. Autopsy studies in two cases showed a severe primary myopathy of smooth muscles of the stomach and intestine with intact myenteric plexus and vagus nerves. The proposita notably had myopathic changes of striated muscles but also involvement of the peripheral nerves and central nervous system characterized by demyelinating and axonal neuropathy and focal spongiform degeneration of the posterior columns.
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PMID:Oculogastrointestinal muscular dystrophy. 685 10

The clinical presentation, investigative findings, classification, and management of 17 acute pseudotumors based on patterns of orbital involvement is presented. Acute pseudotumors developed over days to weeks and were dominated by pain, neuropraxia, and inflammatory clinical features. Five patterns of acute inflammatory pseudotumor were seen. Anterior and diffuse acute pseudotumors were characterized by manifestations of inflammation of the globe and orbit including pain, lid swelling, ptosis, diplopia, uveitis, papillitis, optic neuropathy, and exudative retinal detachment. Anterior or diffuse orbital infiltration was noted on computerized tomography (CT) and ultrasound. Lacrimal involvement was characterized by local pain, tenderness, lid swelling and inflammation, with CT and ultrasound confirming an anterior inflammatory mass. Posterior or apical involvement led to an early optic neuropathy, and myositic lesions were characterized by features of muscle infiltration. Management with steroids was effective and could be followed by serial CT studies.
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PMID:The classification and management of acute orbital pseudotumors. 717 69

Ophthalmoplegia is common cranial neuropathy of Diabetes. In case of 3rd nerve involvement, usually unilateral extra ocular muscles are affected. However, ptosis is very rare in patients with diabetic neuropathy. In this report, we describe bilateral ptosis with ophthalmoplegia in diabetes. In ophthalmoplegia associated with diabetes, ischemic nerve infarction was reported. We treated this patient with Lipo prostaglandin (PG) E1. Since then, increased platelet aggregation activity was found in this patient. After two months, the symptoms of this patient were improved.
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PMID:Bilateral ptosis with ophthalmoplegia in a 72-year-old woman with diabetes. 755 29

The establishment of a linear relationship between perineal descent (PD) and pudendal nerve motor terminal latency (PNMTL) is important in understanding the pathophysiology of pudendal neuropathy. The amount of stretching of the pudendal nerve resulting from the extent of PD, should correlate with the amount of injury sustained (PNMTL). The two key previous studies which used different techniques to measure PD, have differed on this vital issue. A prospective study was undertaken in 141 consecutive patients with PD (M:F = 57:84; mean age 46.3 SEM 1.6 years) to clarify this discrepancy. The patients had chronic constipation (81), neurogenic faecal incontinence (31), rectal mucosal prolapse (17) or female urinary stress incontinence (9). All underwent measurements of PD (by perineometry), anal sphincter pressures, single fibre anal sphincter electromyography and PNMTL. These variables, as well as age were analyzed for a linear relationship with PD by multiple regression analysis. Age was the only independent variable predicting PD at rest (T = -3.2; p < 0.005). PNMTL was the only independent variable predicting PD on straining (T = -3.0; p < 0.005). In conclusion, a linear relationship between PD on straining and PNMTL was confirmed, supporting the previous study which also measured PD by perineometry. The other study which refuted such a relationship measured PD radiologically, and it is likely that the difference was in the measurement technique.
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PMID:The neurophysiological significance of perineal descent. 763 69

First, it is important to find out whether the patient is complaining of infrequent defaecation, excessive straining at defaecation, abdominal pain or bloating, a general sense of malaise attributed to constipation, soiling, or a combination of more than one symptom. Second, one must decide if there is a definable abnormality as a cause of the symptom(s). Is the colon apparently normal or is its lumen widened (megacolon)? Is the upper gut normal or is there evidence of neuropathy or myopathy? Is the ano-rectum normal or is there evidence of a weak pelvic floor, mucosal prolapse, major rectocele, an internal intussusception or solitary rectal ulcer? Is there any systemic component such as hypothyroidism, hypercalcaemia, neurological or psychiatric disorder or relevant drug therapy? Choice of treatment will depend on this clinical evaluation. The range of treatments available is: Reassurance and stop current treatment: Patients with a bowel obsession may take laxatives or rectal preparations regularly without need. Increase dietary fibre: Most cases of 'simple' constipation respond to increased dietary fibre, possibly with an added supplement of natural bran. Toilet training and altered routine of life: Young people particularly may need to recognise the call to stool and alter their daily routine to permit and encourage regular defaecation. Medicinal bulking agent: Ispaghula, methyl cellulose, concentrated wheat germ or bran, and similar preparations are useful when patients with a normal colon find it difficult to take adequate dietary fibre. These preparations increase the bulk of stool and soften its consistency. They may be useful for those patients with the constipated form of irritable bowel syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Clinical management of constipation. 823 32

RECENT DESCRIPTION: Recent report have described "atypical" familial extrapyramidal syndromes similar to authentic Parkinson's disease and well-defined genetic diseases. PERRY SYNDROME: Onset occurs between 35 and 57 years, leading to death within 3 to 7 years. The syndrome associates a Parkinson's syndrome, athymormia and hypoventilation. Massive neuronal depopulation in the locus niger and rare Lewy bodies are seen. PARKINSON'S SYNDROME WITH PERIPHERAL NEUROPATHY: In addition to the extrapyramidal signs, there is ptosis, neuropathy and sometimes dementia and major neurone loss in the locus niger. No Lewy bodies have been identified. PARKINSON'S SYNDROME WITH PALLIDOPONTONIGRAL DEGENERATION: Onset occurs between 32 and 58 years, leading to death within 8 years. Extrapyramidal signs, falls, supranuclear palsy and dementia are observed. Neurone loss is severe in the pars compacta, locu sniger, palladium, pons, and mesencephalic tegmentum. There are no Lewy bodies. EARLY-ONSET PARKINSON'S SYNDROME: Beginning between 2 and 39 years, there are no associated neurological signs. Severe neurone loss in the pars compacta and the pars reticulata of the niger locus without Lewy bodies. PARKINSON'S SYNDROME-DEMENTIA WITH "BALLOON NEURONES": This syndrome begins at 24-59 years and leads to death in 8 to 11 years. There are extrapyramidal signs, a pyramidal syndrome, dementia, generalized seizures and dysautonomia. Major neurone loss occurs with balloon neurones in the anterior temporal cortex, the amygdala, the parahippocampal gyrus, the hypothalamus, the dorsal nucleus of the X and rare Lewy bodies. PARKINSON'S SYNDROME FRONTAL DEMENTIA AND AMYOTROPHY: Beginning between 27 and 56 years, the syndrome leads to death in 13 years and associates frontal dementia with motor neurone defects with the extrapyramidal signs. There is neurone loss in the locus niger and amygdala as well as in the anterior horn of the cord. There are no Lewy bodies. SPECIFIC CLINICOPATHOLOGICAL ENTITIES: is the most likely hypothesis. There is no anatomoclinical evidence suggesting these syndromes should be considered to be Parkinson's disease.
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PMID:[Atypical familial parkinsonian syndromes. Parkinson diseases or specific entities?]. 912 34

We report the evaluation of oculopharyngeal muscular dystrophy (OPMD) in a large northern German family, which can be traced back six generations and is unrelated to French-Canadian families. The symptoms in this family start at about 50 years of age and include dysphagia, bilateral ptosis, and in some cases a slowly progressive atrophy and weakness of other extraocular, facial or limb girdle muscles. The muscle biopsies showed the pathognomonic ultrastructural finding of characteristic intranuclear filaments. Linkage analysis confirmed that this family is also linked to chromosome 14q markers. Haplotype analysis revealed that a unique haplotype segregates with the disease which is different from the one found in French-Canadian OPMD. Although approximately half of the probands with OPMD showed mild clinical and neurophysiological signs of a distal symmetrical neuropathy, the association between the neurogenic lesions and OPMD is still unclear. Some family members with or without OPMD complained of exercise related muscle pain, and a lipid storage myopathy with low muscular carnitine concentrations was found, while the carnitine contents in blood and urine samples as well as the activity of the carnitine-palmitoyl-transferase were normal, fitting the pattern of a primary muscular carnitine deficiency, independent of OPMD.
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PMID:Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency. 939 18

Pelvic organ prolapse remains a difficult problem for pelvic reconstructive surgery. Before new surgical procedures can be developed a good understanding of pelvic anatomy is necessary. It is widely held that the etiology of pelvic organ prolapse is secondary to stretch neuropathy following childbirth and chronic cough or constipation. Several transvaginal and transabdominal procedures have been developed over the years. With the increasing use of laparoscopy, a new variation on existing culdeplasty techniques has been developed. Following anatomical principles, the apical vault repair reestablishes the pericervical ring at the vaginal apex. The incorporation of pubocervical fascia, uterosacral-cardinal ligament and the rectovaginal fascia provides a strong anchor for the vaginal apex. In addition, the repair should help prevent future transverse cystocele, rectocele, enterocele and apical vault prolapse. Early outcome studies suggest that the apical vault repair should be used routinely with laparoscopic urethropexy, laparoscopic hysterectomy and the repair of pelvic organ prolapse. Good apical vault support is considered the cornerstone of pelvic reconstruction.
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PMID:Apical vault repair, the cornerstone or pelvic vault reconstruction. 944 87

We report a 62-year-old woman who was admitted to our hospital because of abrupt onset of ptosis, and alternating and recurrent bilateral external ophthalmoplegia in a short period without pupillary sphincter muscle abnormality. She had been suffering from uveitis of unknown origin for four years before admission, which was improved with the local administration of steroid. Her brain CT and MRI showed a parasellar mass lesion, and cerebral angiography revealed total occlusion of the right internal carotid artery with little arteriosclerotic change in other blood vessels. She was diagnosed as having sarcoidosis because of elevated serum creatinine kinase and lysozyme levels, and the pathological finding of granuloma in muscle biopsy. The oral administration of prednisolone resulted in disappearance of her external ophthalmoplegia completely in ten months. We postulate that in this patient, the alternating and recurrent external ophthalmoplegia in a short period was related to ischemic neuropathy caused by vascular lesion of neurosarcoidosis.
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PMID:[Neurosarcoidosis with an alternating and recurrent external ophthalmoplegia]. 950 75

The aim of the study was to determine whether surgically induced perineal neuropathy relates to the outcome of surgery for the correction of pelvic organ prolapse. Perineal nerve terminal motor latencies (PeNTML) were obtained in 31 women prior to and following transvaginal surgery for the correction of pelvic organ prolapse consisting of bilateral sacrospinous ligament vault suspension and bilateral paravaginal cystocele repair. Mean follow-up was 32 months (range 12-60). Surgical outcome was defined as optimal (asymptomatic, with the apex of the vagina above the levator plate with no tissue protruding beyond the hymen in the upright position with maximum Valsalva), or suboptimal (apical descent of > 50%, or any vaginal wall protrusion beyond the hymen in the upright position with maximum Valsalva). Surgically induced neuropathy was defined as an increase of 0.6 ms or more in the averaged right and left PeNTML measurements following the surgery. All women had preoperative symptomatic prolapse and the mean preoperative PeNTML was prolonged compared to established normals. Using strict definitions, 11 women had optimal outcome and 20 had suboptimal outcome. The outcome groups were similar with respect to age, weight, parity, degree of preoperative prolapse and preoperative perineal neuropathy. Eleven women had surgically induced perineal neuropathy. This was associated with suboptimal outcome compared to optimal outcome (P = 0.03). The relative risk of suboptimal outcome with surgically induced neuropathy was 1.82 (95% CI 1.13-2.93). It was concluded that a relationship exists between the outcome of organ prolapse surgery and surgically induced perineal neuropathy as measured by PeNTML. Such neuropathy may play a role in failed pelvic reconstructive surgery.
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PMID:Relationship between surgically induced neuropathy and outcome of pelvic organ prolapse surgery. 1020 61


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