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 five-year-old boy of Iranian origin with multiple anomalies is described. His parents are first and second cousins. He presented with short stature, psychomotor retardation, microcephaly, ptosis, dacryostenosis, partial left nerve deafness, high arched palate, bifid uvula, total fusion between incisors, asymmetric preaxial and postaxial polysyndactyly, brachyphalangy, kyphosis and spina bifida occulta of S1. To our knowledge, a similar case has not been reported previously.
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PMID:Pre and post axial polysyndactyly, microcephaly and ptosis. 21 12

A case of mitral leaflet prolapse associated with 2:1 atrioventricular block is described. A His-bundle electrogram demonstrated an infra-Hisian level of block. Bradyarrhythmias and sudden death in this syndrome are briefly reviewed.
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PMID:2:1 atrioventricular block associated with mitral leaflet prolapse. 52 74

A 27-year-old man with severe classic hemophilia A (antihemophilic globulin level: 1.5% of normal) had blunt trauma to his left eye that produced a corneoscleral laceration with prolapse of the intraocular contents. His left eye was enucleated under management with factor VIII replacement. This consisted of sufficient cryoprecipitate to increase the calculated circulating factor VIII level to 125%, sufficient factor VIII every 12 hours to increase peak postinfusion levels from 100 to 120%, and to maintain minimum levels of 30% immediately before infusion. Because he had developed a gingival hematoma when he was placed on epsilon amino caproic acid after only one day of factor VIII replacement following extraction of mandibular molars, we continued the high level of factor VIII replacement for five days and then began antifibrinolytic epsilon amino caproic acid therapy. His surgical and postoperative course were uneventful on this regimen.
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PMID:Ocular enucleation in a patient with severe classic hemophilia A. 99 95

The first patient was a 37-year-old man with an invasive and lymphoid cell dominant thymoma (stage III). He underwent extended total thymectomy and partial resection of the upper lobe of the left lung. Four years after the operation, he had ptosis and diplopia and was diagnosed as having myasthenia gravis (positive Tensilon test and raised antiacetylcholine receptor antibody titer). His symptoms improved with the steroid therapy. The second patient was a 37-year-old woman with an invasive and mixed type thymoma (stage III). Extended total thymectomy with combined resection of the mediastinal pleura and right phrenic nerve was performed, but the tumor recurred in the right thorax 2 years postoperatively. Subtotal resection of the parietal pleura and recurrent tumors was performed by right thoracotomy, and steroid therapy was given. She developed malaise, ptosis and diplopia three months later, and was diagnosed as having myasthenia gravis. Her symptoms disappeared after the steroid therapy was stopped. A review of the Japanese literature is presented and problems regarding the pathogenesis of this disease are discussed.
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PMID:[Two cases of post-thymectomy myasthenia gravis]. 140

The case of a 2-day-old male full-term newborn with myotubular (centronuclear) myopathy is reported. He presented with generalized hypotonia and muscle weakness, swallowing disturbance, and respiratory distress at birth. He had a typical myopathic face, high-arched palate, funnel chest, and mild bilateral ptosis. Deep tendon reflexes were absent. Serum creatine kinase was normal. The histologic examination of the muscle biopsy over the right rectus femoris muscle revealed an increased number of fibers with centrally placed nuclei, type 1 fiber predominance, type 1 fiber atrophy, and a peripheral halo in the sarcoplasm on NADH-TR staining. On electron microscopy, central nuclei were separated by strands of glycogen and mitochondria. His muscle strength showed clinical improvement at a 14-month follow-up. This case illustrates the need for a muscle biopsy and histochemical staining and/or electron microscopic investigation for a proper diagnosis in hypotonic newborns with respiratory distress.
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PMID:Neonatal myotubular myopathy with respiratory distress: report of a case. 168 84

We report on a mother and son with a similar syndrome of hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low-set prominent ears. The son also has a hypoplastic shawl scrotum, cryptorchidism, and genu valgum. His language development was delayed at 18 months, but subsequently improved and was normal at age 3. The mother has the additional findings of marked cubitus valgus, hyper-extensible joints, dull normal intelligence and a bleeding diathesis. This pattern of multiple congenital anomalies may represent a new syndrome.
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PMID:New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies. 177 27

A case of Burkitt's type ALL with numb chin syndrome as the initial manifestation is described. A 57-year-old Japanese male was admitted to our hospital in November 14, 1989 because of paresthesia at the chin and lower lip with diplopia and ptosis. Neurological examination revealed oculomotor paralysis of the right side and hypesthesia on the chin, lower lip and buccal mucous membrane. Laboratory findings showed increased leukocyte count. Bone marrow aspirate revealed hypercellular marrow with 92.3% leukemic cells which had vacuoles in the cytoplasm and surface marker of IgM, kappa type. The abnormalities of karyotype included t(8;14). He was treated with chemotherapy and radiation. His conditions were temporarily improved, but relapsed later and died in March 6, 1990. Leukemic infiltrations to the trigeminal nerve were found in autopsy. The relationship between lymphoid malignancies and numb chin syndrome was discussed.
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PMID:[Burkitt's type ALL with numb chin syndrome as an initial manifestation]. 202 41

Two cases of jaw-winking synkinesia or Marcus Gunn (MG) phenomenon are reported, with electromyographic and genetic studies. In the first patient a right eyelid ptosis which had been occurring since birth was associated with a bilateral MG phenomenon confirmed by electromyography. An examination of other family members revealed 3 other cases in the mother's family. The second patient had a congenital left eyelid ptosis associated with an MG phenomenon. His maternal uncle and his mother also had this "jaw-winking" synkinesia. The authors discuss the physiopathology of this complex phenomenon up to now without known neurological lesions. Concerning the genetic aspect of the MG phenomenon, they conclude that in their patients the hereditary pattern was that of an incomplete autosomal dominant trait with varied expressivity in the two families.
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PMID:[Clinical and electrophysiological study of 2 familial cases of Marcus Gunn phenomenon]. 206 68

We describe a 16-month-old girl with Joubert's syndrome (JS), congenital ocular fibrosis, and histidinemia. Abnormal respiration, ptosis, and minimal eye movements were observed in the neonatal period. Intraoperative examination of the eyes later demonstrated severely restricted eye movements and abnormal insertions and fibrosis of the extraocular muscles. Computed tomography of the head revealed absence of the corpus callosum and brain stem. Histidine levels were elevated in the blood, urine, and cerebrospinal fluid. The patient was ataxic and developmentally delayed. To our knowledge, the association of JS with congenital ocular fibrosis has not previously been described. This report indicates that jerky eye movements are not an invariable finding in JS.
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PMID:Joubert's syndrome associated with congenital ocular fibrosis and histidinemia. 246 14

After a brief revision about the long QT syndrome, we report the case of a 52 year old man admitted to hospital for a syncopal attack. His electrocardiogram was considered normal: sinus bradycardia and U waves were recorded. The echocardiogram revealed anterior mitral leaflet redundancy and possible tricuspid prolapse. During the atropine test, after a normal increment of sinus frequency, 2 runs of self-limited torsade de pointes appeared. The electrocardiogram showed lesion wave at first, and then prolonged QT. During the intracavitary study, premature ventricular stimulation caused torsade de pointes. After propranolol iv it was no more possible to induce major ventricular arrhythmias anymore. Coronarography was normal. Nadolol therapy was begun. On 6 months follow-up the patient is asymptomatic.
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PMID:[Torsade de pointes during an atropine sulfate test in a patient with congenital long QT syndrome]. 263 81


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