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

Pelvic floor dysfunction is related to neuropathic injury to the pelvic floor musculature. Clinically, the patient may present with genital prolapse or urinary or fecal incontinence. For a successful outcome, the physician must consider all pelvic compartments in the evaluation and treatment of patients with these disorders. Disorders of the posterior compartment are the least familiar to the gynecologist. Idiopathic fecal incontinence, a posterior compartment defect, is defined as a progressive deterioration of anal sphincter function in patients with no history of sphincter damage. This review discusses the latest findings about idiopathic fecal incontinence within the context of pelvic floor dysfunction and neuropathy.
 ...
PMID:Idiopathic fecal incontinence. 150 75

Pelvic floor function has been studied in 27 women with symptomatic utero-vaginal prolapse and 15 age-matched control subjects. There was no evidence in the patients on physiological testing of significant denervation of the pelvic floor muscles, with no significant difference in the maximum resting and squeeze anal pressures, the pudendal nerve terminal motor latency or external anal sphincter fibre density on single fibre electromyography between the groups. However, those patients with a small rectocele (less than 2 cm) had a significantly higher fibre density than the group with a large rectocele (p = 0.03) and the control group (p less than 0.001). Six of eight patients with a small rectocele had increased fibre density compared with 3/19 with a large rectocele (p = 0.006) and 2/15 control subjects (p = 0.006). This was independent of age, obstetric factors and the presence of internal rectal prolapse. These findings suggest that patients with symptomatic utero-vaginal prolapse and small rectoceles have pelvic nerve damage, and development of a large rectocele may provide some protection against perineal descent and pudendal neuropathy, although the number of patients in the small rectocele group was small and confirmation from further similar studies is required.
 ...
PMID:Pudendal nerve function in women with symptomatic utero-vaginal prolapse. 203 49

Case report of four members of a family presenting a congenital fibrosis syndrome. The first case has the typical presentation with bilateral ptosis, bilateral hypotrophic, variable horizontal deviation, and restricted ocular movements in all directions. The second case has a unilateral ptosis with Marcus Gunn phenomenon and bilateral restriction of elevation. In the third case, the condition is purely unilateral and associated with a sensorimotor neuropathy. A fourth member presents a unilateral ptosis. Three other members have a simple strabismus without any oculomotor anomaly.
 ...
PMID:[Congenital fibrosis of thr ocular muscles: a diagnosis for several clinical pictures]. 213 36

In this case report, we present a patient with severe ptosis without ophthalmoplegia due to porphyric neuropathy. This could be explained only by selective involvement of oculomotor nuclei.
 ...
PMID:Severe ptosis without ophthalmoplegia due to porphyric neuropathy. 217 41

We present a kindred with a previously undescribed combination of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and mild dementia. The propositus, a 72-year-old man, had pes cavus, peripheral neuropathy, ptosis, parkinsonism, hyperreflexia, orthostatic hypotension, central hypoventilation, and mild dementia. Peripheral electrophysiologic studies showed features of an axonal neuropathy. The electroencephalogram showed intermittent 2 to 4 Hz activity symmetrically in the hemispheres. Several family members in 3 generations had pes cavus, neuropathy, ptosis, parkinsonism, and dementia although not all of the features were consistently present. Survival past the 7th decade was common. Autopsy in 2 affected members revealed the neuropathy to be axonal in type and showed mild to moderate loss of anterior horn cells in the spinal cord and pigmentary loss with gliosis in the substantia nigra. This is a unique, benign, autosomal dominant syndrome which shows complete penetrance, variable expression, and both central and peripheral nervous system involvement.
 ...
PMID:Benign autosomal dominant syndrome of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and dementia. 218 81

We report a case of chronic progressive inflammatory polyradiculoneuropathy with a subacute exacerbation that included ataxia, tendon areflexia, ptosis, and ophthalmoplegia. Spinal fluid protein was elevated and electrophysiological studies revealed a demyelinating neuropathy. This case suggests a continuum between chronic inflammatory polyradiculoneuropathy and the Miller Fisher variant of acute inflammatory polyneuropathy.
 ...
PMID:Chronic inflammatory polyradiculoneuropathy with ophthalmoplegia. 294 24

A new patient with Leigh's syndrome (subacute necrotizing encephalomyelopathy due to pyruvate dehydrogenase complex deficiency) is presented. A Turkish boy of consanguinously married healthy parents developed progressive muscle weakness since infancy. At the age of 3 years he was unable to sit, stand or walk. Clinical examination showed general muscle weakness, hypotonia, muscle hypotrophy, bilateral ptosis, partial bilateral external ophthalmoplegia, nystagmus, intention tremor and hypoactive tendon reflexes. The EEG showed diffuse slowing, the cerebral CT scan disclosed mild hydrocephalus e vacuo. Motor nerve conduction velocity was slightly decreased, the EMG revealed signs of neuropathy. In the biopsied muscle only a mild hypotrophy of type 2 fibres was found, no abnormal mitochondria could be detected. The sural nerve was slightly abnormal: loss of large myelinated axons, loss of unmyelinated nerves. CSF protein was elevated to 80 mg/dl, protein electrophoresis revealed the pattern of markedly impaired blood-CSF barrier. Serum lactate and pyruvate were permanently elevated. In the urine the excretion of alanine was raised. The clinical state deteriorated during intercurrent infections; somnolence, vomiting and Cheyne-Stoke's respiration occurred. At the age of 3 1/2 years the child died of pneumonia. In the liver tissue a decreased activity of the pyruvate dehydrogenase complex was found. Neuropathological examination of the brain demonstrated wide-spread changes of Leigh's spongiform encephalopathy. Several enzyme deficiencies have hitherto been associated with Leigh's syndrome: This patients confirms earlier findings that a subgroup of Leigh's syndrome is caused by pyruvate dehydrogenase complex deficiency.
 ...
PMID:[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex]. 312 26

Chronic administration of guanethidine to adult rats induces a selective autoimmune adrenergic neuropathy. Physiological and biochemical features of this disorder in the peripheral nervous system were explored in young adult Sprague-Dawley rats given daily intraperitoneal guanethidine monosulfate for 5 weeks. Control rats received daily saline injections. The guanethidine-treated animals gained less weight, had ptosis, and had a lower mean arterial blood pressure in the supine and upright tilted positions. Norepinephrine was depleted in the peroneal, sural, tibial, and vagal nerves, the nutrient artery to the tibial nerve and in the superior cervical sympathetic ganglion of the drug-treated animals. On light microscopy, there was an inflammatory cell infiltrate and neuron loss in the superior cervical ganglion. Caudal and sciatic-tibial nerve conduction values were well preserved in the guanethidine-treated animals as was the 'C' potential derived from unmyelinated vagal fibers recorded in an in vitro chamber. The 'C' potential recorded from the cervical sympathetic trunk, however, was reduced in amplitude correlating with the loss of norepinephrine content in the harvested contralateral superior cervical sympathetic ganglion. The findings further support the view that guanethidine produces a selective adrenergic neuropathy in the rat--providing a useful standard with which to gauge autonomic involvement in other models of neuropathy. In addition, loss of the cervical sympathetic 'C' potential suggests that this presumed preganglionic structure also contains postganglionic adrenergic fibers.
 ...
PMID:Guanethidine adrenergic neuropathy: an animal model of selective autonomic neuropathy. 322 70

A three-year-old girl was admitted to the hospital one day after the acute onset of drooping of the left eyelid, associated with oculomotor external ophthalmoplegia. General neurological and physical examination was unremarkable. Results of serological tests as well as the clinical course of the disease (spontaneous recovery) show that the unilateral oculomotor neuropathy was most likely due to a self-limited enteroviral infection. The virus could not be cultured in the CSF. Echovirus type 11 as well as Coxsackie B4 virus might have caused the disease. During treatment with prednisone for 3 weeks in decreasing doses the girl recovered, by the seventh day she was able to raise her eyelid. 3 1/2 months later she had no evidence of residual ptosis and full range of ocular movements.
 ...
PMID:[Transient unilateral oculomotor paralysis]. 401 Jun 74

A new inherited neuromuscular disease was identified in 4 patients (1 male, 3 females), offspring of consanguineous marriages, belonging to the same kindred. The proband was a 24-year-old female with history of ptosis and ophthalmoplegia since childhood and progressive intestinal pseudo-obstruction for the last 4 years of her life. A sural nerve biopsy showed axonal and demyelinating neuropathy. Muscle biopsies of pectoral and gastrocnemius revealed myopathic alterations with marked variation in muscle fiber size, atrophy of both fiber types and normal mitochondria. An upper gastrointestinal study showed barium in the stomach after 8 h and jejunal diverticula. Tests for absorption of fat, protein, carbohydrate, folic acid and vitamin B12 were normal. Serum levels of vitamin A and lipoproteins were also normal. The patient underwent partial gastrectomy and gastrojejunostomy. Postoperatively, she developed severe pancreatitis, sepsis, peritonitis and expired. Tissue samples from the proband and from her brother, revealed normal mucosa, but degeneration of smooth muscle of the stomach and small intestine. The myenteric plexus and vagus nerves were normal. The biochemical studies of contractile proteins (myosin, actin, tropomyosin) in the fresh and cultured smooth muscle cells of the proband obtained at the time of gastrectomy showed a 50-75% decrease in the synthesis of different contractile proteins. Turnover of contractile proteins and synthesis and turnover of collagen showed normal values. The reduction in synthesis of contractile proteins may account for the weak peristalsis and be a factor in the pathogenesis of the intestinal pseudo-obstruction.
 ...
PMID:Inherited ophthalmoplegia with intestinal pseudo-obstruction. 668 98


1 2 3 4 5 6 7 8 9 10 Next >>