800 research outputs found

    Considerations on the management of pyruvate dehydrogenase deficiency

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    Before Gastrointestinal Symptoms in Students Can Be Attributed to Anxiety and Depression during the Lockdown, Alternative Causes Must Be Ruled Out [Letter]

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    Josef Finsterer Neurology & Neurophysiology Center, Vienna, AustriaCorrespondence: Josef Finsterer, Email [email protected]

    The Eye on Mitochondrial Disorders.

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    Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype. This review aims at summarizing and discussing the etiology, pathogenesis, diagnosis, and treatment of ophthalmologic manifestations of mitochondrial disorders. Review of publications about ophthalmologic involvement in mitochondrial disorders by search of Medline applying appropriate search terms. The eye is frequently affected by syndromic as well as nonsyndromic mitochondrial disorders. Primary and secondary ophthalmologic manifestations can be differentiated. The most frequent ophthalmologic manifestations of mitochondrial disorders include ptosis, progressive external ophthalmoplegia, optic atrophy, retinopathy, and cataract. More rarely occurring are nystagmus and abnormalities of the cornea, ciliary body, intraocular pressure, the choroidea, or the brain secondarily affecting the eyes. It is important to recognize and diagnose ophthalmologic manifestations of mitochondrial disorders as early as possible because most are accessible to symptomatic treatment with partial or complete short-term or long-term beneficial effect. Ophthalmologic manifestations of mitochondrial disorders need to be appropriately diagnosed to initiate the most effective management and guarantee optimal outcome

    Brain Temperature, Choline, N-Acetyl-Aspartate, and Myo-Inositol Measured by MRS Can Only Be Considered Diagnostic Biomarkers if Their Criteria are Met [Letter]

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    Josef Finsterer Neurology & Neurophysiology Center, Vienna, AustriaCorrespondence: Josef Finsterer, Neurology & Neurophysiology Center, Postfach 20, Vienna, 1180, Austria, Tel/Fax +43-1-5861075, Email [email protected]

    A combination of right ventricular hypertrabeculation/noncompaction and arrhythmogenic right ventricular cardiomyopathy: a syndrome?

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    A combination of ARVC and RV NVM/HVM, which is extremely rare, to our knowledge, is never reported. RV NVM/HVM could be the cause and consequence of ARVC, or RV NVM/HVM and ARVC could be a consequence of a certain undetermined cause. It must be kept in mind, however, that the interaction of NVM/HVM and ARVC could be in part of pathophysiology mechanism of the combination even if as a consequence of an underlying genetic factor

    A combination of left ventricular noncompaction and double orifice mitral valve

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    A 24-year-old woman admitted with mild chest distress associated with activity without chest complaint for twenty days. Two orifices were visible at the level of the mitral valve with a transthoracic short-axis view of the two-dimensional and three-dimensional echocardiography. The left ventricle was mildly dilatated and the left ventricular wall was thickened, especially at the apex and anterolateral wall, and appeared sponge-like. There were numerous, excessively prominent trabeculations associated with intertrabecular recesses. Although the coexistence of NVM and DOMV could be a coincidence, we believe that both defects were probably caused by a developmental arrest of the left ventricular myocardium in the present case
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