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)

To our knowledge, the juvenile form of spongy degeneration of the CNS (SD-CNS); van Bogaert-Bertrand disease) has been described previously only three times. We report the case of 21 1/4-year-old Japanese woman who was first seen at the age of 11 with growth retardation, ptosis, and ophthalmoplegia. Her progressive neurodegenerative disease included retinitis pigmentosa, blindness, partial deafness, cerebellar dysfunction, hyporeflexia, and muscle wasting. Simultaneous endocrine defects were diabetes mellitus and probable hyperaldosteronism. Heart block developed later. She died of bronchopneumonia. Autopsy showed CNS stigmas typical of spongy degeneration. Additional findings included peripheral nerve demyelination, neurogenic muscle atrophy, pituitary and pancreatic atrophy, right adrenal agenesis, and a left adrenal coritcal lipid-cell adenoma. To our knowledge, our patient was the oldest survivor, the first patient of Japanese ancestry, and had a unique concurrence of certain oculoendocrine defects.
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PMID:Spongy degeneration of the CNS: an instance of the rare juvenile form. 50 59

In 1958, Kearns and Sayre described a multisystem entity, now known as Kearns-Sayre syndrome (KSS). The syndrome is defined as exhibiting a triad of thus far unexplained degenerative conditions: progressive external ophthalmoplegia, retinal pigmentary degeneration, and heart block. Commonly accompanying findings include cerebellar dysfunction and CSF protein levels above 100 mg/dl. Symptoms usually appear in early childhood, but the onset has been seen occasionally in young adults. KSS is a mitochondrial disorder that occurs rarely; the actual incidence is unknown. Ocular findings consist of bilateral ptosis, chronic progressive external ophthalmoplegia, and pigmentary retinopathy. Corneal clouding and optic neuritis are infrequent. We herein report a classic case of Kearns Sayre syndrome and discuss the findings.
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PMID:Kearns-Sayre syndrome: a case report and review. 163 60

Renal tubular acidosis and tetany were the 1st manifestations of Kearns-Sayre syndrome in a 5-year-old child. Subsequently, he developed progressive external ophthalmoplegia, ptosis, retinopathy, heart block, and endocrinopathy. There was a 7.5-kb deletion of mitochondrial DNA documented in muscle, kidney, skin fibroblasts, and leukocytes, providing evidence for a multisystem mitochondrial cytopathy.
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PMID:Kearns-Sayre syndrome presenting as renal tubular acidosis. 223 34

The Kearns-Sayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects. A unique case is reported in which there was rapid development of progressive congestive cardiac failure that required cardiac transplantation. A review of published reports of mitochondrial myopathy shows that a minority of cases (less than 20%) have cardiac involvement. This had previously been limited to abnormalities of cardiac conduction with progressive heart block. Myocardial biopsy has, however, shown ultrastructural evidence of a generalised mitochondrial disorder which hitherto has not been associated with a functional deficit.
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PMID:Cardiomyopathy in the Kearns-Sayre syndrome. 337 Jan 84

Disorders characterized by both neurologic (ataxia, ophthalmoplegia, ptosis, neuromyopathy) and cardiologic (heart block, cardiomyopathy) abnormalities have been previously called the "ophthalmoplegia plus" syndromes. Most are not due to a specific enzyme defect or metabolic abnormality and thus may be similar phenotypic expressions of diverse causes. We studied seven patients with progressive external ophthalmoplegia and variable ataxia, with mitral valve prolapse and mitral regurgitation that progressed in severity as did the neuromuscular manifestations. Abnormal skeletal muscle biopsies showed "ragged-red" fibers or congenital fiber type disproportion; serum alanine levels were elevated; in-vivo and in-vitro tests of pyruvate metabolism gave abnormal results; C4 complement was decreased; and the patients' fibroblasts bound immunoglobulin when incubated with autologous serum. These data suggest a distinct neuromuscular disorder with metabolic and immunologic features associated with mitral valve prolapse and progressive mitral regurgitation.
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PMID:Mitral valve prolapse and ophthalmoplegia: a progressive, cardioneurologic syndrome. 634 61

The question of whether to repair or replace the mitral valve in the elderly remains unanswered. The purpose of our study is to describe our experience with mitral valve repair (MVR) using Carpentier's technique in patients 70 years and older. Fifty consecutive patients underwent MVR between 1984-1992. There were 30 female patients. All had 2 + or more mitral regurgitation (MR). The valve pathology included ischemic (n = 28), myxomatous (n = 7) and rheumatic (n = 6), leaflet prolapse (n = 11) and healed bacterial endocarditis (n = 3). The clinical findings included: myocardial infarction (n = 17), congestive heart failure (n = 18), atrial fibrillation (n = 14) and pulmonary hypertension (n = 10). The surgical technique involved placement of a Carpentier ring (n = 41) or Duran ring (n = 3), resection of leaflets (n = 9), shortening of the chordae (n = 8) and commissurotomy (n = 6). At surgery, coronary bypass was carried out in 32 patients while the aortic valve was replaced in five and repaired in one. Postoperative complications included atrial fibrillation (n = 14), transient neurologic events (n = 4), heart block requiring pacemaker (n = 3) and prolonged intubation (n = 4). Echocardiogram carried out postoperatively showed 2 + MR in three patients, 1 + in four, and a trace or none in the remaining (n = 39). No patient required re-operation for MR. Three patients (6%) died within 30 days after surgery due to low output (n = 1), malignant ventricular arrhythmia (n = 1) and heart block with cardiac arrest (n = 1).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Mitral valve repair in patients over the age of 70 years. 808 76

We report a 56-year old female with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), presenting with protein-losing gastroenteropathy and serum copper deficiency. There was no neuromuscular disease in her family members. Three years prior to admission, she developed severe gastrointestinal symptoms including diarrhea, nausea, vomiting and ascites, and was diagnosed as having protein-losing gastroenteropathy based on alpha(1)-antitrypsin clearance and other tests. She was referred to our department when neurological symptoms were apparent. Neurological examinations revealed bilateral ptosis, ophthalmoplegia, hearing loss, facial and limb muscle weakness, mild sensory deficit of vibration on her feet and hypoactive deep tendon reflexes. Pigmentary retinopathy, cerebellar ataxia and heart block were not seen. Serum copper level was decreased to 45 micrograms/dl (normal: 83-155). Chronic intestinal pseudo-obstruction was proven by X-ray studies, and diffuse leukoencephalopathy demonstrated on brain MRI. On EMG, motor nerve conduction velocities were prolonged with temporal dispersion. Her muscle biopsy from biceps brachii muscle showed both neuropathic and myopathic changes, scattered ragged-red fibers and focal cytochrome c oxidase deficiency. Southern blot and polymerase chain reaction analysis on mitochondrial DNA showed no deletions nor point mutations. The clinical and pathologic findings of the present patient fulfilled the diagnostic criteria of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) proposed by Hirano et al. There are few reported patients with MNGIE in Japan, but none presented with protein-losing gastroenteropathy and serum copper deficiency. Since the copper is a cofactor of cytochrome c oxidase, decreased serum copper level may aggravate the respiratory chain enzyme metabolism in mitochondria. Therefore, treatment for gastrointestinal tract disturbance and copper administration may be necessary to prevent disease progression.
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PMID:[Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report]. 949 Sep 4

Kearns-Sayre syndrome (KSS) is a multisystem mitochondrial disorder characterized by the invariant triad: onset before 20, progressive external ophthalmoplegia and pigmentary retinal degeneration, plus at least one of the following: complete (or not) heart block, cereberal dysfunction and CSF protein above 100 mg/dl. Autopsies from patients with KSS revealed widespread tissue distribution mtDNA deletions. These deletions result in significantly lower activities of the enzymes of the respiratory chain. The same deletion of mitochondrial DNA present in skeletal muscle is found in myocardial tissue. An 18-year-old girl diagnosed with the KSS was admitted to our hospital because of an upper respiratory tract infection and dysphagia. ECG showed cardiac conduction defects. The patient had no history of syncope. At her surface ECG there was a complete RBBB (QRS duration approximately 130 ms), a clockwise rotation with an axis of approximately 90 degrees and a slight QT prolongation (420 ms). Echocardiography showed prolapse with thickening and degeneration of both mitral valve leaflets but without mitral regurgitation. The patient was started on a diet rich in potassium and pharmaceutical therapy with magnesium oxide (240 mg of elemental Mg p.o. per day), 1 g of calcium carbonate t.i.d., vitamin D (calcitriol 0.25 microg p.o. per day) and coenzyme Q(10) 100 mg daily and discharged 6 days later with slightly improved biochemical profile but apparent clinical improvement. Urgent pacemaker implantation was decided but unfortunately the patient died due to acute cardiac arrest 10 days later.
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PMID:Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayre syndrome. 1200 93

This study reports on experience with transcatheter closure of congenital ventricular septal defects (VSDs) with Amplatzer septal occluders. From January 2000 to April 2005, transcatheter Amplatzer device implantation was attempted in 122 patients with congenital VSD (30 with muscular, 87 with perimembranous, and 5 with residual postsurgical repair of conotruncal malformations). Patient mean age was 15 years (range, 6 months to 64 years), and mean weight was 35 kg (range, 5.8 to 102 kg). The VSD mean size was 7 mm (range, 4 to 16 mm), mean Qp/Qs was 2.1 (range, 1.3 to 4), and mean fluoroscopy time was 32 minutes (range, 5 to 129 minutes). All procedures were performed with the patient under general anesthesia and guided by fluoroscopy and transesophageal echocardiography. The device size chosen was usually 1- to 2-mm larger than the maximum defect size as assessed by either the echocardiographic or angiographic views that were judged most reliable. Amplatzer muscular devices were placed in 47 patients, and the membranous devices were placed in 72 patients. The procedure was not performed in 3 patients with perimembranous VSD because of the impossibility of achieving an adequate long sheath position in 1 patient, onset of complete atrioventricular (AV) block during catheter manipulation in 1 patient, and the presence of aortic valve prolapse preventing a safe device placement in 1 patient. Satisfactory device implantation was achieved in 119 of 122 patients (97.5%): a tiny smoke-like residual flow through the device was often seen immediately after the procedure (50%); residual shunting was detectable in 19% after 24 hours and in only 4% at 6 months. The following additional catheter interventions were performed simultaneously: balloon pulmonary valvuloplasty in 3 patients, device closure of atrial septal defects in 2 patients, coil occlusion of the arterial duct in 1 patient, stenting coarctation in 1 patient, and stenting of the right pulmonary artery in 1 patient. Minimal aortic regurgitation developed in 3 patients, and minimal tricuspid regurgitation in 3 patients; no patient required additional treatment. Device embolization occurred in 3 patients (1 patient with muscular VSD, 2 with perimembranous VSD); catheter retrieval and implantation of a second device was successfully performed in all patients. Transient left bundle branch block occurred in 2 patients, and transient first-degree AV block in 1 patient. Among the perimembranous VSD cases, complete AV block occurred acutely (within 48 hours) in 3 patients, requiring a pacemaker in 1 patient; complete heart block occurred in the other 2 patients after 5 and 12 months, requiring pacemakers. There was no mortality. Transcatheter closure of muscular and perimembranous VSDs offers encouraging results: 96% complete closure at midterm follow-up. Complications are limited; the most relevant appears to be device-related complete heart block in perimembranous VSD. Greater experience and long-term follow-up are required to assess the safety and effectiveness of this procedure as an alternative to conventional surgery.
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PMID:Transcatheter closure of congenital ventricular septal defect with Amplatzer septal occluders. 1639 93

Tricuspid stenosis secondary to ventricular pacemaker leads is uncommon. We present a unique case of iatrogenic tricuspid stenosis secondary to fusion of the valve leaflets to transvenous implanted pacing leads. This occurred in an adult with childhood repaired Tetralogy of Fallot and high grade surgical heart block following multiple pacemaker procedures. The case was complicated by superior vena cava (SVC) and innominate vein stenosis secondary to implanted pacing leads, severe tricuspid valve (TV) stenosis, perforation of the heart by one of the implanted transvenous ventricular pacing leads, prolapse of the transvenous atrial pacing lead into the right ventricle, and unusual coronary sinus anatomy. We describe a multidisciplinary approach to management.
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PMID:Severe tricuspid valve stenosis secondary to pacemaker leads presenting as ascites and liver dysfunction: a complex problem requiring a multidisciplinary therapeutic approach. 1885 Feb 61


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