mitochondrial myopathies/tūska

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Cystoid macular edema in a patient with chronic progressive external ophthalmoplegia with mitochondrial myopathy.

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Ielogoties Reģistrēties

OBJECTIVE To report the findings of cystoid macular edema in a patient with chronic progressive external ophthalmoplegia and other systemic features of mitochondrial myopathy. METHODS Observational case report. METHODS Retrospective review of the ophthalmic examination and genetic studies of a

Acute mitochondrial myopathy with respiratory insufficiency and motor axonal polyneuropathy.

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BACKGROUND Mitochondrial myopathies (MMs) are mainly presented with chronic muscle weakness and accompanied with other syndromes. MM with acute respiratory insufficiency is rare. OBJECTIVE To reveal the clinical, pathological and molecular characteristics of a life-threatening MM. METHODS Muscle

Cardiovascular magnetic resonance imaging (CMR) reveals characteristic pattern of myocardial damage in patients with mitochondrial myopathy.

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Ielogoties Reģistrēties

BACKGROUND Mitochondrial myopathy comprises various clinical subforms of neuromuscular disorders that are characterised by impaired mitochondrial energy metabolism due to dysfunction of the mitochondrial respiratory chain. No comprehensive and targeted cardiovascular magnetic resonance (CMR) studies

Disruption of mitochondrial respiration inhibits volume-regulated anion channels and provokes neuronal cell swelling.

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Hypoxia and inhibitors of mitochondrial respiration impair the regulatory volume decrease (RVD) of cerebellar granule neurons after hypotonic swelling. RVD is linked to the opening of volume-regulated anion channels (VRACs). VRACs are outwardly rectifying, inactivate slowly during maintained

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

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BACKGROUND MELAS (mitochondrial myopathy, lactic acidosis and stroke-like episodes) is one of the most common mitochondrial encephalomyopathies. METHODS We present four children with A3243G MELAS mtDNA mutation and give a summary of clinical MELAS symptoms reported in the literature. Serum lactate

Steroid responsive A3243G mutation MELAS: clinical and radiographic evidence for regional hyperperfusion leading to neuronal loss.

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Ielogoties Reģistrēties

BACKGROUND Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystem disorder caused by systemic cellular metabolic derangement that is characterized predominantly by rapidly progressive deterioration of the central nervous system. METHODS We describe

Diffusion-weighted image and MR spectroscopic analysis of a case of MELAS with repeated attacks.

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We report the clinical and MR manifestations of an 18 year-old girl with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Recurrent status epilepticus caused reversible cytotoxic edema on diffusion-weighted images (DWI). Initial and one month

Serial brain imaging analysis of stroke-like episodes in MELAS.

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We report 2 patients of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and consider the pathophysiology of stroke-like lesions, using magnetic resonance imaging (MRI), diffusion-weighted imaging (DWI) on MRI, perfusion imaging on MRI, and 1H magnetic

[A study of myocardial disorders in an autopsy case of mitochondrial encephalomyopathy].

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We report an autopsy case of a 19 year-old man with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) a subgroup of mitochondrial encephalomyopathy presenting cardiomyopathy. He had repeatedly suffered from transient unconsciousness, hemiplegia, hemianopsia

Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2.

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The therapeutic efficacy of a regimen consisting of intravenous injection of Cardiocrome, containing cytochrome c, flavin mononucleotide and thiamine diphosphate for mitochondrial encephalomyopathy (MEM) was examined. This combined therapy was applied to nine patients with MEM, including four with

Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome.

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Ielogoties Reģistrēties

BACKGROUND The pathogenesis of stroke-like episodes in patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) remains unknown. METHODS Fourteen stroke-like episodes in six patients with MELAS were studied using clinical, neuroradiologic, and

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