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succinate dehydrogenase/céphalée
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Low platelet monoamine oxidase activity in headache: no correlation with phenolsulphotransferase, succinate dehydrogenase, platelet preparation method or smoking.
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Platelet monoamine oxidase activity in male migrainous and cluster headache patients was significantly lower than in male controls, confirming our previous study. The activity range showed a normal distribution and low mean values could not be attributed to a subgroup with particularly low activity.
A novel mutation of the succinate dehydrogenase B gene in a Korean family with pheochromocytoma.
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Pheochromocytoma is a tumor that originates from the adrenal cortex and sympathetic chains. Most pheochromocytomas are sporadic, whereas others occur as hereditary syndromes. Familial pheochromocytoma has been frequently found in association with various mutations in genes of the succinate
Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening?
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Several studies have shown that patients with succinate dehydrogenase subunit B (SDHB) mutations have a very high risk for developing malignant paragangliomas. However, there is no consensus of what age screening for paragangliomas should start. We report a case of an 8-year-old white girl with a
L157X nonsense mutation of the succinate dehydrogenase subunit B gene in a Japanese patient with right paraaortic paraganglioma.
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Nuclear genes succinate dehydrogenase B subunit and succinate dehydrogenase D subunit, which encode two mitochondrial complex II subunits, are associated with the development of familial paraganglioma (PGL). Succinate dehydrogenase B subunit gene mutation is highly associated with extraadrenal PGL
Succinate dehydrogenase gene mutations in cardiac paragangliomas.
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Pheochromocytomas and paragangliomas are chromaffin cell tumors arising from neuroendocrine cells. At least 1/3 of paragangliomas are related to germline mutations in 1 of 17 genes. Although these tumors can occur throughout the body, cardiac paragangliomas are very rare, accounting for <0.3% of
Dipyridamole combination chemotherapy can be used safely in treating gastric cancer patients.
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The feasibility of a combined chemotherapy using dipyridamole (DP) with adriamycin (ADM) and 5-fluorouracil (5-FU) was investigated. First, the chemosensitivity of gastric cancer tissues was determined by the succinate dehydrogenase inhibition test, which showed sensitivity to ADM and 5-FU is
Childhood phaeochromocytoma and paraganglioma: 100% incidence of genetic mutations and 100% survival.
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BACKGROUND
The aim is to identify the incidence of genetic mutations and outcome of children presenting with phaeochromocytoma/paraganglioma (PGL) to a single paediatric surgical service to determine the need for genetic counselling in associated kindreds.
METHODS
A retrospective case note review
[Multiple paragangliomas associated to a SDHB gene mutation: report of one case].
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Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations of succinate dehydrogenase subunits genes, are associated with familial
A giant cystic pheochromocytoma of the adrenal gland.
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Adrenal pheochromocytomas are rare catecholamine-secreting tumors that originate from chromaffin cells in the adrenal medulla, and giant pheochromocytomas with cystic changes are particularly rare. We report a case of a 46-year-old man who presented with episodic hypertension and headache.
Heteroplasmic mitochondrial DNA mutation in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.
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A 16-year-old female presented with clinical, morphologic and molecular features of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Her early development was normal. Starting from the age of 14 years, she experienced recurrent episodes of headaches, with
A novel m.11406T>A mutation in mitochondrial ND4 gene causes MELAS Syndrome
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Pathogenic point mutations of mitochondrial DNA (mtDNA) are associated with a large number of heterogeneous diseases involving multiple systems with which patients may present with a wide range of clinical phenotypes. In this study, we describe a novel heteroplasmic missense mutation, m.11406T>A,
Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome: A case-report and literature review (CARE-complaint)
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Rationale: Mitochondrial encephalomyopathy with lactic acidosis and stroke- like episodes (MELAS) syndrome is caused by mitochondrial respiratory chain dysfunction and oxidative phosphorylation disorder. It is a rare clinical metabolic
Malignant paraganglioma presenting with hemorrhagic stroke in a child.
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Sympathetic paragangliomas are rare catecholamine-secreting tumors of extra-adrenal origin, and their diagnosis in children is even more infrequent. They usually manifest as hypertension, palpitations, headache, sweating, and pallor. Malignant paragangliomas are identified by the presence of
Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation.
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BACKGROUND
A 46-year-old man presented with headaches, paroxysmal palpitations, anxiety and hypertension. The patient had undergone surgery for a retroperitoneal tumor at the age of 31 years, when histological examination revealed an extra-adrenal pheochromocytoma. The patient's 68-year-old mother
Recent advances in the diagnosis and treatment of pheochromocytoma in children.
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BACKGROUND
The purpose of this study was to analyze the effects of changes in the diagnosis and treatment of pheochromocytoma in a pediatric population.
METHODS
We reviewed the medical records of all children who had resection of pheochromocytoma or paraganglioma at a major children's hospital since
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