نتایج جستجو برای: melas syndrome
تعداد نتایج: 622265 فیلتر نتایج به سال:
OBJECTIVES Mitochondrial disorders of energetic metabolism (MD) represent a heterogeneous group of diseases manifesting at any age with a broad spectrum of clinical symptoms, including psychiatric disorders. METHODS The aim of the study was to characterize psychiatric symptoms and diagnoses in five patients with MELAS syndrome between the ages of 17 and 53 years. RESULTS Four of MELAS patie...
In this article, on page 204, the title has been spelled incorrectly: " MEALS " should have appeared as " MELAS ". The title should be corrected as the following: from " A Case of Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Epicodes (MEALS) Syndrome with Intracardiac Thrombus " to " A Case of Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Epicodes (MELAS) Syndrome with ...
Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a multisystem disorder, which is clinically characterized by encephalopathy, dementia, seizures and stroke-like episodes. Multiple organs can be affected and cardiac involvement often dominates the clinical picture because of its high energy requirement. We report a case of a 21-year-old woman with MELAS ...
The mitochondrial DNA mutation MTTL1 A3243G causes MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like episodes). The A3243G mutation is also associated with variable endocrinopathies. We describe 2 case histories of patients with the A3243G mutation. The first patient presented with diabetes and uncontrolled Graves’ thyrotoxicosis in association with a strokelike epis...
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is most commonly caused by the A3243G mutation of mitochondrial DNA. The capacity to utilize fatty acid or glucose as a fuel source and how such dynamic switches of metabolic fuel preferences and transcriptional modulation of adaptive mechanism in response to energy deficiency in MELAS syndrome have not ...
We describe a 60-year-old man with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) and discuss the mitochondrial DNA point mutation 3243. A diagnosis of MELAS should be considered in the appropriate clinical setting at any age.
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder. MELAS manifests different clinical symptoms due to heteroplasmy individual susceptibility tends be aggravated by metabolic events. It presents various manifestations including hearing impairment, diabetes mellitus, stroke like episodes. However, date, only f...
MELAS syndrome (mitochondrial cytopathy, encephalomyopathy, lactic acidosis and stroke like episodes) is a syndrome in which signs and symptoms of gastro-intestinal disease are uncommon, if not rare. We describe a young female patient who presented as an acute surgical emergency, diagnosed as toxic mega colon necessitating an emergency total colectomy; the diagnosis of MELAS syndrome was made p...
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