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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty-two patients (17 men and 15 women) are presented in whom the diagnosis Rendu-Osler-Weber disease was established between 1980 and 1990 during hospitalisation in the Leeward Islands of the Netherlands Antilles. Among this group there were eight families, each of which contained two patients. Estimated point-prevalence rate in 1991 was 19.4/100,000, which is ten times higher than has been reported so far. Epistaxis, gastrointestinal blood loss and cerebrovascular accidents (CVA) were the main presenting symptoms. Mean age at diagnosis was 53.2 years. Arteriovenous fistulae in the lung developed in 11 patients (34%). Eleven patients experienced a total of 12 CVAs at a mean age of 48 years; four of these patients had an ischaemic CVA in the presence of pulmonary fistulae, while three patients had a haemorrhagic stroke in the presence of a cerebral arteriovenous malformation. Thus, cerebrovascular accidents at an early age are common complications in Rendu-Osler-Weber disease and warrant further investigation of this disease among inhabitants of the Leeward Islands of the Netherlands Antilles.
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PMID:[Cerebrovascular accidents at a young age in Rendu-Osler-Weber disease; a survey in the Netherlands Antilles]. 154 68

Neurologic complications in patients with Hereditary Hemorrhagic Telangiectasia (HHT) occur as a consequence of a variety of vascular malformations. One type of intracranial malformation, saccular aneurysm, has recently been appreciated as a potential source of ischemic cerebrovascular disease on the basis of aneurysm to artery emboli. We report a patient with HHT and an unruptured saccular intracranial aneurysm presenting with ischemic vascular events.
Stroke
PMID:Focal cerebral ischemia distal to a cerebral aneurysm in hereditary hemorrhagic telangiectasia. 665 11

Ninety-seven patients were referred to the Toronto Hospital (Western Division) between January 1984 and January 1992 for selective angiographic embolization (108 embolizations, including repeat procedures) to control intractable or recurrent severe epistaxis. Eighty-one patients (comprising 94 embolizations) were referred on an emergent basis because of failure of conventional conservative therapy, consisting of anterior and posterior packing. The remaining 16 patients (14 embolizations) were referred electively for recurrent epistaxis. A retrospective review of these cases was performed, with long-term telephone follow-up achieved in over 95% of cases. Embolization safely controlled active hemorrhage in 88% of the emergent cases. The success rate increased to 90% when two cases in which the source of epistaxis was found to be from the internal carotid artery were excluded (because these vessels could not be safely embolized). Of the patients whose epistaxis was initially controlled by embolization, 82% had no further nosebleeds (follow-up time ranged from 2 to 82 months; average, 26.8 months). More than half of the long-term failures were seen in patients with Osler-Weber-Rendu disease. Overall, the mortality rate was 0% and the long-term morbidity rate was 2% (one cerebral vascular accident and one case of skin slough in the territory of the superficial temporal artery.
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PMID:Angiographic embolization for the treatment of epistaxis: a review of 108 cases. 802 41

Pulmonary arteriovenous fistulas (PAVFs) are rare vascular malformations of the lung. There is a strong association with Rendu-Osler-Weber disease. Although most patients are asymptomatic, PAVFs can cause dyspnea from a right-to-left shunt. They can also bleed and result in hemoptysis and hemothorax. Because of paradoxical emboli, various central nervous system complications have been described including stroke, and brain abscess. Currently, spiral computed tomography offers the most practical method for establishing the presence of PAVFs. Most patients should be treated. Therapeutic options include angiographic embolization with metal coils or balloon occlusion and surgical excision. Angiographic treatment has become the mainstay of therapy for most patients during the last decade. It is less invasive and can be repeated easily. Surgery, which usually consists of a conservative lung resection, is associated with low morbidity and a low recurrence rate. Both therapeutic approaches are discussed. The Mayo Clinic surgical experience of the last 20 years for PAVFs is presented.
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PMID:Pulmonary arteriovenous fistula: presentation, diagnosis, and treatment. 1133 33

Chronic illness played a major role in the life and literary success of Robert Louis Stevenson. However, the exact nature of his chronic illness remains unclear. It is possible that Stevenson had hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber Syndrome). This would explain his chronic respiratory complaints, recurrent episodes of pulmonary hemorrhage, and his death, at age 44 years, of probable cerebral hemorrhage. It would also explain his mother's hitherto unreported but apparent stroke, at age 38 years. Further support for this hypothesis might come from new details about the health of Stevenson and his relatives or from molecular analysis of tissue specimens remaining from him.
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PMID:Did Robert Louis Stevenson have hereditary hemorrhagic telangiectasia? 1075 Oct 91

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder because of mutations in the genes coding for endoglin (HHT1) or ALK-1 (HHT2). The disease is associated with haploinsufficiency and a murine model was obtained by engineering mice that express a single Endoglin allele. Of a total of 171 mice that were observed for 1 year, 50 developed clinical signs of HHT. Disease prevalence was high in 129/Ola strain (72%), intermediate in the intercrosses (36%), and low in C57BL/6 backcrosses (7%). Most mice first presented with an ear telangiectasia and/or recurrent external hemorrhage. One-third of mice with HHT showed severe vascular abnormalities such as dilated vessels, hemorrhages, liver and lung congestion, and/or brain and heart ischemia. Disease sequelae included stroke, hydrocephalus, fatal hemorrhage, and congestive heart failure. Thus the murine model reproduces the multiorgan manifestations of the human disease. Levels of circulating latent transforming growth factor (TGF)-beta1 were significantly lower in the 129/Ola than in the C57BL/6 strain. Intercrosses and 129/Ola mice expressing reduced endoglin also showed lower plasma TGF-beta1 levels than control. These data suggest that modifier genes involved in the regulation of TGF-beta1 expression act in combination with a single functional copy of endoglin in the development of HHT.
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PMID:Potential role of modifier genes influencing transforming growth factor-beta1 levels in the development of vascular defects in endoglin heterozygous mice with hereditary hemorrhagic telangiectasia. 1139 79

Pulmonary arteriovenous malformations are congenital vascular malformations in the lungs, which act as shunts so that the blood is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain. About 25% of patients with the Rendu-Osler-Weber syndrome (hereditary haemorrhagic telangiectasia) have these pulmonary malformations. A modern treatment strategy is embolisation with balloon or coils of the afferent arteries to the arteriovenous malformations. It is a minimally invasive procedure with a very high technical success and few complications. Embolisation prevents cerebral stroke and abscess and pulmonary haemorrhage and further raises the functional level. Screening for pulmonary arteriovenous malformations in patients at risk is recommended.
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PMID:[Pulmonary arteriovenous malformations. Current therapeutic principles]. 1152 79

Rendu-Osler-Weber disease, or hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant disorder with incomplete penetrance, characterized by vascular anomalies which may virtually develop in many organs. The prevalence varies and may range from 1/3,500 to 1/5,000 in specific regions. Two chromosal sites have been at least identified: in HHT1, mutations at chromosome 9 alter the protein endoglin and in HHT2, mutations at chromosome 12 alter the protein activine or ALK-1. Clinical manifestations include recurrent epistaxis, mucocutaneous telangiectases that bleed easily, and larger arteriovenous malformations in parenchymatous organs. Epistaxis is the first symptom, occurring in the vast majority of affected persons. The lung is the most common site for arteriovenous malformations. Brain abscess, transient ischemic attack and ischemic stroke occur exclusively in patients with pulmonary arteriovenous malformations and right-to-left shunt, which facilitates the passage of emboli into the cerebral circulation. Transcatheter embolotherapy with detachable balloons or stainless-steel coils has been used in order to occlude such malformations and to prevent such complications. At present a genetic diagnosis is possible in only a few families. The clinical diagnosis is based on 4 criteria: family history, epistaxis, mucocutaneous telangiectases and arteriovenous malformations. The diagnosis will be definite if 3 criteria are present, suspected if 2 criteria are present, unlikely if fewer than 2 criteria are present. In conclusion, the authors examine clinical features of 28 HHT patients observed in the HHT University Centre of Bari from September 2000 to May 2001.
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PMID:Hereditary hemorrhagic teleangiectasia (Rendu-Osler-Weber disease). 1210 2

Pulmonary arteriovenous fistulas are rare malformations often associated with Rendu-Osler-Weber (ROW) disease. Morbidity and mortality are significant and arise from hemorrhagic and neurological complications.We report the cases of two patients, mother and son, with earlier diagnoses of ROW disease, who suffered, respectively, a stroke and a brain abscess with massive pulmonary thromboembolism. Helicoid computed axial tomographic scans demonstrated pulmonary arteriovenous fistulas in both. Given these findings, we performed embolotherapy.
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PMID:[Diagnosis and treatment of pulmonary arteriovenous fistulas]. 1211 46

There has been uncertainty as to whether a right to left shunt through an isolated pulmonary arteriovenous fistula (P-AVF) without Rendu-Osler-Weber (ROW) disease can cause paradoxical brain embolism. A population of 747 acute ischaemic stroke patients was examined to determine the frequency and clinical characteristics of those patients who had an isolated P-AVF. The presence of a P-AVF was determined as follows. On patients with a stroke of undetermined cause, both transoesophageal echocardiography and transcranial Doppler with saline contrast medium was performed to detect a right to left shunt. If a P-AVF was then suspected, selective pulmonary angiography and enhanced chest CT was performed to confirm the presence of the P-AVF. Four patients (0.5%) were diagnosed as having a stroke associated with an isolated P-AVF. All the patients were middle-aged women (mean age 61 years). In all these patients, the P-AVF could not have been suspected on physical findings or chest x ray. The P-AVF was always single and located in the lower lobe. All the patients had asymptomatic deep venous thrombosis, and three patients developed pulmonary embolism. As D-dimer and thrombin-antithrombin complex were elevated in all patients, this indicated an activation of both fibrinolytic and thrombin activity. Our results show that an isolated P-AVF without ROW disease can cause paradoxical brain embolism. Thus, the existence of an isolated P-AVF as a right to left shunt in patients with a stroke of unknown origin should not be overlooked, even if a P-AVF is not suggested by the initial physical findings or chest x ray.
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PMID:Isolated pulmonary arteriovenous fistula without Rendu-Osler-Weber disease as a cause of cryptogenic stroke. 1474 15


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