Miguel Ángel Marín

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The aim of the study was to enhance our understanding of the pathogenesis of the ataxia of Charlevoix-Saguenay, based on the findings presented herein. Five patients with a molecular diagnosis of this disease underwent clinical, radiological, ophthalmologic and electrophysiological examinations. Five novel mutations, which included nonsense and missense(More)
PURPOSE To present full ophthalmologic examination and retinal nerve fiber layer (RNFL) photographs of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patients showing significant increases in RNFL thickness compared to healthy subjects, but without myelinated retinal fibers. METHODS The study design was observational case series. Ten(More)
The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is considered a neurodegenerative disease caused by mutations in the SACS gene, located on chromosome 13q12.12. It is a syndrome that comprises skeletal, retinal and neurological manifestations, among which feature spasticity, cerebellar ataxia and peripheral neuropathy. Five patients(More)
OBJECTIVES Phrenic nerve pacing is a method of respiratory support that can replace mechanical ventilation in high-level cervical spinal cord injury patients with diaphragmatic paralysis. Our objective was to evaluate survival and long-term quality of life in patients with external respiratory support by PNP vs volumetric respirator in patients with severe(More)
The case of a patient with dystrophic epidermolysis bullosa treated with radiosterilised amniotic membranes is presented. The disorder is a congenital disease characterised by a poor desmosomal junction in the keratinocyte membrane. After proper donor screening, amnios were collected at Hospital Central Sur de Alta Especialidad (HCSAE), PEMEX and(More)
The association between macroamylasaemia and coeliac disease in Down syndrome with multiple autoimmune abnormalities has never been reported. A 40-year-old woman with a 15-year history of immunoglobulin A and immunoglobulin M hypergammaglobulinaemia, chronic diarrhoea, persistent mild aspartate aminotransferase (AST) elevation and anaemic syndrome was(More)
PURPOSE To identify differences in neuronal tissue from retinal and brain structures in children born small for gestational age (SGA) with no abnormality in neonatal brain ultrasonography and no previous neurological impairment, and to evaluate the relationship between retinal structure and brain changes in school-age children born SGA. METHODS Two(More)
Compulsive neuropsychiatric disorders are common in children and the most frequent is Gilles de la Tourette syndrome. Recently, a new disease has been described: the PANDAS syndrome (pediatric autoimmune neuropsychiatric disorders associated with streptococci). The etiology of this syndrome is uncertain but it has been associated with recent group A(More)
Low-grade B cell non-Hodgkin lymphomas typically arise from the marginal zone of the secondary lymphatic follicles. Their intracranial expression is very rare, most frequently affecting the dura mater and the choroid plexus glomi in the lateral ventricles. Their initial evaluation requires the exclusion of more common extra-axial lesions, such as(More)
UNLABELLED We report the outpatient management of acalculous colecistitis in an 18-y-old male with X-linked chronic granulomatous disease. The patient complained of abdominal pain and the initial ultrasound showed a gallbladder with a thickened wall. CONCLUSION In chronic granulomatous disease, pain from a thickened gallbladder disappears after oral(More)
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