Asymptomatic hyperCKemia in old age as a presentation form of a mutation in the ANO5 gene, 8-years of follow-up
HiperCKemia asintomática de debut en la senectud como forma de presentación de una mutación en gen ANO5, 8 años de seguimiento
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Nuevas tecnologías genómicas y su aplicación en pediatría
El desarrollo de tecnologías genómicas ha transformado la práctica de la pediatría, permitiendo avances significativos en el diagnóstico de enfermedades genéticas, el 70% de las cuales comienzan en la infancia. Las variaciones genómicas, que van […]
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Gadolinium-enhanced brain lesions in multiple sclerosis relapse
Objective To study the clinico-radiological paradox in multiple sclerosis (MS) relapse by analyzing the number and location of gadolinium-enhanced (Gd+) lesions on brain MRI before methylprednisolone (MP) treatment. Methods We analyzed brain MRI from 90 […]
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Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum
Background Desminopathies are a clinically heterogeneous group of myopathies, with common histological findings in muscle biopsy. Clinically, they usually present with distal and/or proximal muscle weakness often associated with cardiomyopathy. We present 8 patients from […]