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)

In 322 cases of lumbar PID proved by myelography the radiologically recognizeable malalignment of the lumbar spine was related to site and direction of the prolaps. Scoliosis towards the side of the prolapse was seen in about 70 per cent. Scoliosis convex towards the normal side was significantly more common with right-sided than with left-sided prolapses. Scoliosis was the more pronounced the higher the site of prolapse. The degree of lumbar lordosis, too, appeared to depend on the level of prolapse. The lower the prolapse the less the lordosis. In the individual case one cannot draw any conclusions as to site or direction of a prolapse from radiologically detectable malalignment.
 ...
PMID:[Malalignment of lumbar spine with lumbar PID (author's transl)]. 12 47

Myocardial function was evaluated prospectively by noninvasive methods in 20 boys with clinical, biochemical, muscle biopsy, and electromyographic evidence of Duchenne's progressive muscular dystrophy. Auscultatory evidence of a nonejection systolic click suggested mitral valve prolapse (MVP) syndrome in seven patients. Phonocardiography disclosed that the click was mid-systolic in four patients and early in three. Echocardiographic features consistent with this diagnosis were identified in all seven patients and in an additional four. One of these had an apical pansystolic murmur, suggestive of mitral regurgitation, whereas in the other three, prolapse of the mitral valve was "silent". Echocardiographic findings included an abrupt midsystolic, posterior motion (greater than 3 mm beyond the CD line) in five patients, multiple sequence echoes in six, and posterior coaptation of the mitral valve near the left atrial wall in six. The features most characteristic of MVP syndrome was a smooth, pansystolic, anteriorly concave (hammock-like) posterior motion deviating more than 3 mm beyond the CD line. Among the remaining nine patients who did not have echocardiographic evidence of prolapsing mitral valve, none had an early, middle or late nonejection systolic click or a heart murmur, although four patients in this group had moderate to severe scoliosis. These observations document of occurrence of MVP syndrome in children with Duchenne's muscular dystrophy and indicate that its prevalence is high. We speculate that prolapse of the mitral valve in these patients is an expression of the underlying cardiomyopathy characteristic of Duchenne's muscular dystrophy rather than an isolated, dystrophic involvement of the mitral valve leaflets.
 ...
PMID:Mitral valve prolapse syndrome in children with Duchenne's progressive muscular dystrophy. 44 Jul 88

We studied the pulmonary function and chest x-ray films of 20 nonsmokers with idiopathic prolapse of the mitral valve. Forty-five percent of these patients complained of dyspnea. Of the 16 chest films reviewed, 44 percent had radiographic evidence of pectus excavatum and 25 percent thoracic scoliosis. The most common pulmonary function abnormalities were increased residual volume (63 percent) and a reduced steady state diffusing capacity (50 percent of patients). There was no relationship between the presence of dyspnea and either chest wall deformity of abnormality of pulmonary function. These pulmonary function abnormalities may reflect a pulmonary parenchymal disorder possibly secondary to a connective tissue abnormality in the lung.
 ...
PMID:Pulmonary function studies in patients with prolapse of the mitral valve. 44 65

Idiopathic prolapse of the mitral valve is a common disorder, but many cases are clinically subtle. Thoracic skeletal abnormalities, reported recently to accompany the syndrome, may serve as an easily identifiable clinical indicator. The prevalence of these abnormalities was defined in 24 patients with proved prolapse of the mitral valve. The valvular syndrome was defined clinically, by echocardiography and, in seven cases, by left ventricular angiography. The skeletal deformities were defined clinically and radiographically. Pectus excavatum was present in 62 percent of the patients, "straight back" in 17 percent and severe scoliosis in 8 percent. Eighteen of the 24 patients (75 percent) had a definite thoracic skeletal deformity. The association of idiopathic prolapse of the mitral valve with these skeletal deformities may represent a forme fruste of Marfan's syndrome. Patients with "straight back" and pectus excavatum should be examined clinically and perhaps by echocardiography to exclude idiopathic prolapse of the mitral valve; when murmurs are present, a diagnosis of "pseudoheart disease" should not be made before mitral valve prolapse has been excluded.
 ...
PMID:Thoracic skeletal abnormalities in idiopathic mitral valve prolapse. 114 95

We studied 27 Duchenne muscular dystrophy patients having spinal fusion for scoliosis. One patient died intraoperatively of cardiac arrest; all others have done well with no instances of malignant hyperthermia, postoperative ventilatory system dependence, pneumothorax, persisting infection, neurologic damage, nonunion, or pain. The anesthetic management included primarily intravenous general anesthetics with minimal myocardial depressant effects, avoiding succinylcholine and inhalation agents. Preoperative cardiac studies aided anesthetic management intra-operatively. There was an almost universal sinus tachycardia. Holter monitoring defined 4 of 16 with ventricular premature beats, 4 of 16 with atrial premature beats, and no ventricular tachycardia or atrial flutter or fibrillation. Echocardiogram demonstrated mitral prolapse in 2 of 22, frequent abnormal systolic performance with abnormal shortening fraction less than 28% in 7 of 16, and reduced rate-corrected velocity of fiber shortening in 9 of 15. Afterload was elevated in 7 of 15. The mean forced vital capacity (FVC) preoperatively was 45.3 +/- 15.9% with continuing diminution to 28.7 +/- 14.9% at 3.3 +/- 2.2 years after surgery. The main benefit of surgical stabilization is the relative ease and comfort of wheelchair seating compared with those nonoperated patients who develop progressive deformity. We have not seen lasting improvement or stabilization in FVC following surgery as decreasing function is related primarily to muscle weakness.
 ...
PMID:Spinal fusion in Duchenne muscular dystrophy: a multidisciplinary approach. 158 53

Oculopharyngeal muscular dystrophy is an inherited disorder, usually autosomal dominant, which typically becomes symptomatic during the fifth decade of life with slowly progressive ptosis and dysphagia; childhood onset has not been reported. A 13-year-old female of French-Canadian descent developed nasal speech and strabismus at 5 years of age; there was no family history of neuromuscular disease. Ptosis and mild facial and proximal muscle weakness were present by 9 years of age. Over the next 4 years, the patient developed dysphagia, palatal paralysis, weight loss, decreased ocular motility, scoliosis, shortness of breath, and obstructive apnea. Tracheostomy and gastrostomy were required. Creatine kinase and repetitive facial nerve stimulation were normal. Edrophonium testing was negative and electromyography revealed myopathic motor units in the iliopsoas muscle. A preponderance of type I fibers and scattered atrophic and angulated muscle fibers were present in 3 muscle biopsies. The clinical presentation and findings are consistent with childhood onset oculopharyngeal muscular dystrophy.
 ...
PMID:Childhood onset oculopharyngeal muscular dystrophy. 176 43

We report on a family with some features of the Pseudo-Ullrich-Turner-Syndrome, so-called Noonan-Syndrome. Besides low-set ears, microgenia, short neck, pterygium colli, low-anterior hair line and small stature as well as partial scoliosis, partial cubitus valgus and camptodactylia, retinal detachment, disturbances of the eye motility, keratoconus, unilateral ptosis and antimongoloid slant of the palpebral fissures in different expression are described. The caryotype was normal. Some of the features can be seen within at least 2 generations of the family. It seems to be an autosomal genetic mode of transmission. Differences and common characteristics in comparison to the literature are shown. Differential diagnostic aspects are described. A definite relation to a syndrome already described is not possible.
 ...
PMID:[Ocular symptoms in a family with pseudo-Ullrich-Turner syndrome]. 178 62

Clinical characteristics of 60 (41 males, 19 females) patients with echocardiographically proven mitral valve prolapse were analysed, with special interest in the associated thoracic skeletal abnormalities. There was a male preponderance (2.2:1) and 91.7% of patients were symptomatic--atypical chest pain, palpitations, exertional dyspnoea and easy fatiguability being the major symptoms. Sixty seven percent had an asthenic body habitus, and 55% had high-arched palate. Thoracic scoliosis (55%), straight back syndrome (50%), flat chest (46.7%), and pectus excavatum (20%) were seen in association with the condition, with 81.7% having any one or combination of these features. Lateral chest radiography showed pancaking of heart shadow in 48.3%. Isolated non-ejection systolic click(s) was the major cardiac auscultatory finding (61.7%), while 60% showed pansystolic prolapse on echocardiography. Electrocardiographic ST-T-U changes in the inferior and/or lateral chest leads were seen in 46.7%, while 16.7% had cardiac arrhythmias. None had infective endocarditis, heart failure or cerebral embolic events. The findings corroborate the view that thoracic skeletal anomalies may be regarded as non-auscultatory features of this syndrome.
 ...
PMID:Mitral valve prolapse syndrome and associated thoracic skeletal abnormalities. 130 Oct 49

Report of a 17-year-old boy with oculo-auricolo-vertebral dysplasia. He exhibited microphthalmos on the left and auricular deformity at hemifacial microsomia, scoliosis, dysraphia and other malformations of vertebras and ribs further other minor anomalies of face and hands. The disfiguring microphthalmia with ptosis was an essential cause of a social maldevelopment with temporary important aggressivity. Patients with oculoauriculovertebral dysplasia should be examined for associating cardial and renal dysplasias and cases of psychosocial disorders treated psychotherapeutically in time.
 ...
PMID:[Oculo-auriculo-vertebral dysplasia with abnormal social development]. 221 27

A case of hemihypertrophy associated with multiple anomalies of the skin, bone and visceral organs is presented. A 31-year-old female was admitted for evaluation of her skin conditions. Her family history is noncontributory, while her past history discloses operations for syndactyly of the right foot, tonsillar hypertrophy, anal prolapse and ovarial cyst. Erythemas of the face and the left upper extremity were noticed during the neonatal period and hypertrophy of the right side of the body started at age 2 months. On admission, hemihypertrophy was observed in the face, trunk and extremities. Multiple faint nevi flammei were seen on the right half of the face and on the left side of the trunk and extremities. Telangiectasis and nevus anemicus were seen in the upper chest. The left upper extremity showed diffuse brown patches that was histologically basal pigmentation with some giant melanosomes. Visceral anomalies consisted of fibromatous tumors of the tip of the tongue and mitral prolapse. Angiography and computed tomography revealed a possible arteriovenous malformation of the right occipital region, small hemangiomas around the patella, dilation of the lateral ventricle, and calcification of the choroid plexus. Tortuous superficial veins were noted in the right leg. She had no seizure, but her IQ was 68. The bone disorders consisted of scoliosis, short forth metacarpus, hypoplastic mandible and peroneal exostosis. Examination revealed a slight diminution of urinary corticosteroid, but no other endocrinological disorders were found. The hemihypertrophy in this case is at least partially due to an arteriovenous shunt, suggested by elevated oxygen saturation of the blood obtained from the internal saphenous vein.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Congenital hemihypertrophy associated with cutaneous pigmento-vascular, cerebral, visceral and bone abnormalities]. 282 Feb 92


1 2 3 4 5 6 Next >>