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)

The objective of this prospective study was to investigate further the clinical features of patients with giant cell (temporal) arteritis (GCA). All patients diagnosed from July 1999 to March 2001 at the Department of Neurology of the Second Xiangya Hospital in China were included. The final diagnosis was based on clinical manifestations, a temporal artery biopsy, response to steroid, and follow-up. The American College of Rheumatology (ACR) criteria for the classification of GCA were tested in the patients identified. Sixteen patients with GCA were identified; 13 (81.25%) patients fulfilled the 1990 ACR criteria for the classification of GCA. Clinical findings included the following: mean age at disease onset 43.13 years (range 28-60) and 81.25% of the patients under the age of 50 when the disease began; men 93.75%; the common initial symptoms including new headache 62.50% and.visual symptoms 18.75%; the common clinical findings at presentation including new headache 93.75%, temporal artery abnormality 81.25%, visual abnormality 56.25%, and fever 25.00%; raised erythrocyte sedimentation rate (ESR) 68.75%; and uncommon findings including jaw claudication, ptosis, fatigue, syncope, hemiparesis; all 16 patients underwent a temporal artery biopsy; inflammatory cell infiltration 68.75% in arterial wall, fragmented internal elastica 100.00%, fibrinoid necrosis 18.75%, smooth muscle cell changes 62.50%, and thrombosis in the lumen 31.25%. The mean time from symptom onset to suspicion of GCA or biopsy was 5.52 months (range 0.25-24.33); the initial diagnosis was wrong in 87.50% of patients. These examples are too small a number to permit definite conclusion. But the results suggest that GCA may not be a rare disorder in China, mean age at disease onset was relatively young, males may be more susceptible, the clinical features of GCA have not been widely appreciated yet, there was a delay between diagnosis and treatment, and initial diagnosis was wrong in many patients.
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PMID:Giant cell arteritis in China: a prospective investigation. 1214 52

Most cases of periaqueductal tumours were found in children and adolescents, so treatment modalities in adults are not evaluated yet. A case of 40 years old woman with tectal and periaqueductal protoplasmatic astrocytoma grade II with history of headache and episodes of syncope is described. MRI showed triventricular hydrocephalus. After a shunt procedure she was doing well for about 15 months. Then she became somnolent, disoriented, and Parinaud syndrome appeared. The solid tumour was resected microsurgically in one stage. A part of it was removed via the supracerebellar infratentorial approach and tectal plate incision. The remainder of the tumour was removed through the fourth ventricle and the aqueduct which was filled by tumour mass. Postoperatively bilateral ptosis, vertical gaze palsy, slight horizontal gaze limitation and pupilloplegia were the main neurological sequelae. They all almost completely resolved within a year. The patient is doing well two and half years after the surgery. MRI showed patency of the aqueduct and no residual tumour. The authors suggest, that direct surgical attempt at total tumour removal should be considered in cases of periaqueductal and tectal gliomas. They also believe it is the first described case, in whom this type of tumour was totally removed by a combined transtectal and transaqueductal route.
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PMID:One stage removal of periaqueductal glioma in adult via infratentorial supracerebellar and transaqueductal approaches. 1496 51

A 5 year-old spayed female Cavalier King Charles Spaniel was presented after a 3- to 5-day onset of severe respiratory distress. The dog also had a history of several episodes of syncope prior to presentation. A comprehensive diagnostic investigation revealed a midsystolic click sound on cardiac auscultation, signs of left sided cardiac enlargement in ECG and thoracic radiography, mitral valvular leaflet protrusion into left the atrium, decreased E-point-to septal separation (EPSS) and mitral regurgitated flow in echocardiography, all of which are characteristic signs of mitral valvular prolapse. After intensive care with diuretics [corrected] and a vasodilator with oxygen supplement, the condition of the dog was stabilized. The dog was then released and is being medicated with angiotensin converting enzyme (ACE) inhibitor with regular follow-up.
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PMID:Mitral valve prolapse in Cavalier King Charles spaniel: a review and case study. 1578 26

Mitral valve prolapse shows a wide spectrum from a benign anatomic variant to a progressive disease with severe cardiovascular morbidity and mortality. Echocardiography is the most important tool for diagnosis and risk stratification. Predictors for high risk are significant thickening of mitral leaflet of > 5 mm ("classic" prolapse), moderate to severe mitral regurgitation and reduced left ventricular function. These patients have an increased risk of infective endocarditis, cerebral ischemia and sudden cardiac death. Because of the risk for the development of severe mitral regurgitation requiring surgery short follow-up intervals are necessary. In mitral prolapse syndrome cardiac clinical signs (palpitation, rhythm disorders, syncope, etc.) are associated with a prolapse that can be treated symptomatically with drugs after exclusion of other causes and significant mitral regurgitation requiring surgery.
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PMID:[Mitral valve prolapse: identification of high-risk patients and therapeutic management]. 1650 68

Dopamine beta-hydroxylase (DbetaH) deficiency is a very rare form of primary autonomic failure characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma levels. The prevalence of DbetaH deficiency is unknown. Only a limited number of cases with this disease have been reported. DbetaH deficiency is mainly characterized by cardiovascular disorders and severe orthostatic hypotension. First symptoms often start during a complicated perinatal period with hypotension, muscle hypotonia, hypothermia and hypoglycemia. Children with DbetaH deficiency exhibit reduced ability to exercise because of blood pressure inadaptation with exertion and syncope. Symptoms usually worsen progressively during late adolescence and early adulthood with severe orthostatic hypotension, eyelid ptosis, nasal stuffiness and sexual disorders. Limitation in standing tolerance, limited ability to exercise and traumatic morbidity related to falls and syncope may represent later evolution. The syndrome is caused by heterogeneous molecular alterations of the DBH gene and is inherited in an autosomal recessive manner. Restoration of plasma noradrenaline to the normal range can be achieved by therapy with the synthetic precursor of noradrenaline, L-threo-dihydroxyphenylserine (DOPS). Oral administration of 100 to 500 mg DOPS, twice or three times daily, increases blood pressure and reverses the orthostatic intolerance.
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PMID:Dopamine beta-hydroxylase deficiency. 1672 95

Cardiac tumors other than myxomas are rare. We report a series of 10 intracavitary polypoid myofibroblastic proliferations in children and young adults emphasizing gross, histologic, and clinical features. There were 6 females and 4 males, with a mean age of 10 years (range 5 wk to 21 y). All lesions were endocardial-based, located in the right atrium (1), right ventricular inflow/tricuspid valve (1), right ventricular outflow (3), mitral valve (3), aortic valve/left coronary sinus (1), and left ventricular free wall (1). Symptoms included shortness of breath or dyspnea (3), syncope (2), chest pain (1), transient ischemic attacks (1), and fever with myalgias (1). All tumors were surgical resections, except 1 tumor that resulted in sudden coronary death and that was diagnosed at autopsy, and 1 tumor that embolized into the coronary artery and was treated by cardiac transplant. Two tumors, present in the aortic and mitral valves, respectively, caused cardiac ischemia. The tumors were polypoid or filiform and histologically resembled inflammatory myofibroblastic tumors of extracardiac sites, with loose spindle cell growth with sparse inflammation. Although there were frequent collagen bundles interspersed among the tumor cells, there were no large areas of dense fibrosis. Surface fibrin was present on the polypoid projections in 7 cases. Symptoms resulted from prolapse into coronary ostia or embolization, but no patient developed metastasis. Long-term follow-up in 2 patients demonstrated no evidence of disease or recurrence. Although metastatic potential was not identified, these tumors may result in serious symptoms, including myocardial infarct, syncope, and sudden death. These cardiac myofibroblastic tumors are readily distinguished from other endocardial-based cardiac tumors, including papillary fibroelastoma and myxoma, which may present clinically in the same manner.
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PMID:Cardiac inflammatory myofibroblastic tumor: a "benign" neoplasm that may result in syncope, myocardial infarction, and sudden death. 1759 79

A right-sided aortic arch with an aneurysm of the aberrant subclavian artery is a rare disease. We report a case of Kommerell's diverticulum of an aberrant left subclavian artery in a patient with a right-sided aortic arch. Fewer than 50 cases have been reported in the literature. A number of operative strategies are described. Right thoracotomy provides good exposure and avoids the morbidity associated with bilateral thoracotomy or sternotomy and thoracotomy. In our patient with symptoms of dysphagia, syncope, and left subclavian steal syndrome, a left thoracotomy was used. The repair was accomplished by division of a left ligamentum arteriosum, obliteration of the Kommerell's aneurysm, and an aorto-subclavian bypass. Postoperative complications included left vocal cord palsy and Horner's syndrome. Hoarseness and left ptosis recovered spontaneously 3 months after surgery, and the patient remained symptom-free at the 1-year follow-up. We believe a left thoracotomy for direct repair of Kommerell's diverticulum is a simple and safe method without the increased morbidity found in other procedures.
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PMID:A right-sided aortic arch with Kommerell's diverticulum of the aberrant left subclavian artery presenting with syncope. 1946 53

The prognosis of progressive ophthalmoplegia in patients with large-scale mitochondrial DNA deletions is highly variable and almost unpredictable. The risk to develop cardiac involvement and sudden cardiac death is strikingly high, especially in patients with Kearns-Sayre syndrome (KSS). The most typical cardiac complications of the disease are conduction defects, which usually begin with left anterior fascicular block with or without right bundle branch block (RBBB), progressing sometimes rapidly to complete atrioventricular block. Other cardiac manifestations reported are first or second degree of AV block, QT prolongation, torsades de pointes ventricular tachycardia, and rarely dilated cardiomyopathy. Most frequently syncope, sometimes even sudden cardiac death, is the first clinical sign of the cardiac disease in KSS. Due to these life-threatening cardiac conditions, patients should be carefully monitored for cardiac signs and symptoms and pacemaker implantation should be suggested early to avoid sudden cardiac arrest in KSS.Here, we present two cases of KSS with life-threatening syncope due to complete atrioventricular block. To emphasize the importance of an early pacemaker implantation, we review the literature on cardiac complications in KSS in the last 20 years. In almost all of the reviewed cases, ophthalmoplegia or ptosis was present before the cardiac manifestations. In most of the cases, syncope was the first symptom of the cardiac involvement. There was no correlation between the age of the onset of the disease and the onset of cardiac manifestations.With our current report, we increase awareness for life-threatening cardiac complications in patients with KSS.
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PMID:Cardiac arrest in kearns-sayre syndrome. 2343 Aug 46

Congenital atresia of the left coronary artery is a very rare condition. We report a case of a 13-year-old boy who was followed-up at our outpatient clinic from 6 months of age because of heart murmur. He had no symptoms for more than 10 years, and his left ventricular contraction was normal. Exercise electrocardiogram was performed at 7 and 10 years of age, and ST depression was not observed. He presented with chest pain and syncope on exertion at the ages of 11 and 12 years, respectively, and ST depression on exercise electrocardiogram was detected for the first time at 13 years of age. Cardiac echocardiography showed a high-choic antero-lateral papillary muscle of the mitral valve, prolapse of the mitral anterior leaflet, and mild mitral valve regurgitation. Coronary angiography did not demonstrate antegrade left coronary flow or dilation of the right coronary artery. We performed coronary artery bypass grafting using the left internal thoracic artery. Postoperatively, the ST depression resolved, and his exercise tolerability improved.
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PMID:Left main coronary artery atresia in a child: a case report and review of the literature. 2877 Jun 96

Besides intracranial lesions, neurological symptoms are also caused in cancer patients by extracranial lesions in the head and neck. Common symptoms caused by such lesions include visual loss, visual field defect, diplopia, ptosis, sensory abnormalities of the head and neck region, facial nerve palsy, dysphagia, dysarthria, hoarseness, and syncope. Some cancer patients often have multiple cranial nerve involvement, which is associated with several syndromes such as jugular foramen syndrome. The main causes of cranial nerve dysfunction due to extracranial lesions include bone and nodal metastasis, perineural tumor spread, inflammation, and radiation injury. The location of the lesions causing the neurological symptom may be estimated by the symptoms and physical examination. However, CT/MRI is critical for reaching the final diagnosis and for treatment planning and management of the cancer patients. Moreover, early identification of the extracranial lesions may significantly affect patient care and alter outcomes. Thus, radiologists should be familiar with imaging findings of the common neurological disorders and the complex anatomy of the head and neck region, which should be checked in cancer patients with neurological symptoms.
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PMID:Imaging of extracranial head and neck lesions in cancer patients: a symptom-based approach. 3091 85


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