Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017638 (glioma)
 30,880 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Only a few cases of angiographically demonstrated and pathologically proved cases of venous angiomas have been published. In contrast to the scarcity of recorded cases of angiographically studied venous angiomas, they are the most common incidentally encountered angiomatous lesions at autopsy. Their angiographic characterization, though highly suggestive, is not pathognomonic. The angiographic characteristics include small radiating veins that drain into a larger transcerebral vein that in turn empties into a dural sinus; blush and early draining veins also may be seen. The differential diagnosis includes telangiectasia, infiltrating glioma, and probably a cavernous angioma. We report an angiographically demonstrated and pathologically proved case of a venous angioma and also review the literature.
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PMID:Intracerebral venous angioma. Case report and review. 64 86

A case is reported with occlusion and stenosis of the internal carotid arteries in association with basal telangiectasia. Fifteen years after postoperative irradiation for an optic glioma, radiological signs typical of the moyamoya syndrome were observed. Radiation therapy is discussed as the cause of the vascular damage in this case.
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PMID:Moyamoya syndrome as a complication of radiation therapy. Case report. 66 Feb 36

Five cases of brain-stem hematoma are described. The cause of these hematomas was identified as "cryptic angioma" (1 cavernous angioma, 1 telangiectasia, 3 arteriovenous malformations). So, they are so-called "secondary hematoma", as opposed to brain-stem hematoma in relation with hypertension. Such secondary hematomas are reported in the literature: 37 operated on cases and 22 untreated cases were found. The clinical picture does not seem to be typical. The presentation appears to be either with the acute onset of a stroke, or with a subacute onset including relapsing symptoms. A progressive deterioration suggesting a pontine glioma or mimicking demyelination is not rare. The CT scanner appearance is often characteristic showing a high density area in the brain-stem which enhanced after injection of contrast medium with an aspect of "halo". Angiography is usually negative. The natural history of brain-stem hematoma due to rupture of a cryptic angioma is not well documented, but it seems that prognosis is very poor. So, the authors insist on surgical evacuation which is effective and safe allowing the diagnosis of brain-stem hematoma and in some cases the identification of the malformation.
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PMID:[Secondary hematoma of the brain stem. Apropos of 5 cases]. 376 36

A 7-year and 11 month-old girl with cerebellar astrocytoma linked to familial ataxia-telangiectasia (AT) is presented. She was born as the 7th girl of a woman with aortic arch syndrome. Two elder sisters of the patient have ataxia telangiectasia. She had immunodeficiency, and cerebellar ataxia, but had no oculocutaneous telangiectasia. The risk of cancer developing in AT patients is about 1,200 times greater than that in age-matched controls. With regard to central nervous system tumours, seven primary tumours have been reported, such as 3 cases of medulloblastoma and 4 cases of glioma. Members of AT families who were under the age of 45 had a risk of dying of a malignant neoplasm five times greater than in the general population. However, there were no reports of glioma in AT families. In this case, it is suggested that IgA deficiency linked to familial AT may have contributed to the development of astrocytoma.
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PMID:Astrocytoma linked to familial ataxia-telangiectasia. 874 98

Bone morphogenetic proteins (BMPs) are secreted cytokines that control the fate and function of many different cell types. They exert their cellular responses via heteromeric complexes of specific BMP type I and type II serine/threonine kinase receptors, e.g. BMPRIA and BMPRII. Three type II and four type I receptors, also termed activin receptor-like kinases (ALKs), have been identified. The constitutively active type II kinase phosphorylates the type I receptor, which upon activation initiates intracellular signaling by phosphorylating SMAD effectors. Auxiliary cell surface receptors without intrinsic enzymatic motifs, such as Endoglin and Repulsive guidance molecules (RGM), can fine-tune signaling by regulating the interaction of the BMP ligands with the BMPRs. The functional annotation of the BMPR encoding genes has helped to understand underlying mechanisms of diseases in which these genes are mutated. Loss of function mutations in BMPRII, Endoglin or RGMc are causally linked to pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia and juvenile hemochromatosis, respectively. In contrast, gain of function mutations in ACVR1, encoding ALK2, are linked to Fibrodysplasia ossificans progressiva and diffuse intrinsic pontine glioma. Here, we discuss BMPR identification, structure and function in health and disease. Moreover, we highlight the therapeutic promise of small chemical compounds that act as selective BMPR kinase inhibitors to normalize overactive BMPR signaling.
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PMID:Bone morphogenetic protein receptors: Structure, function and targeting by selective small molecule kinase inhibitors. 3252 5