نتایج جستجو برای: melas syndrome
تعداد نتایج: 622265 فیلتر نتایج به سال:
Macroscopic behavior of scientific and societal systems results from the aggregation of microscopic behaviors of their constituent elements, but connecting the macroscopic with the microscopic in human behavior has traditionally been difficult. Manifestations of homophily, the notion that individuals tend to interact with others who resemble them, have been observed in many small and intermedia...
INTRODUCTION There are currently 23 missense point mutations and one 4 basepair deletion spanning different mitochondrial genes associated with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS). The spectrum of mitochondrial DNA mutations in Arab patients with MELAS is largely unknown. CASE PRESENTATION A standard clinical examination was carried out on a 34-year-...
OBJECTIVE We analyzed the diffusion and perfusion characteristics of acute MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) lesions in a large series to investigate the controversial changes of the apparent diffusion coefficient (ADC) that were reported in prior studies. MATERIALS AND METHODS We analyzed 44 newly appearing lesions during 28 stroke-like ...
The most common disease-causing mitochondrial DNA (mtDNA) mutation in mitochondrial encephalomyopathy (ME) with lactic acidosis and stroke-like episodes (MELAS) is m.3243A>G. In the future, the incidence of patients with cerebral infarction and diabetes mellitus is expected to increase tremendously. Additionally, the A3243G mutation typical of diabetes is estimated to be present in approximatel...
In this review, we comprehensively describe ophthalmic diseases with mitochondrial DNA mutation such as Leber's hereditary optic neuropathy (LHON), progressive external ophthalmoplegia (PEO) and Kearns-Sayre Syndrome (KSS). Ocular involvement is a prominent clinical feature of various mitochondrial diseases as well. The known mitochondrial disorders such as Mitochondrial encephalomyopathy, lact...
Onset of MELAS due to the m.3243ANG mutation is early if the large phenotypic variability is considered ☆ , ☆☆ Keywords: mtDNA m.3243ANG MELAS Gene Mitochondrial disorder Stroke-like episode Letter to the Editor With interest we read the article by Sunde et al. about a female with MELAS syndrome with onset at age 49 years and four stroke-like episodes (SLEs) during the first 2 years who was fol...
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