15 documents found, page 1 of 2

Case Report: Varicella Associated Neuropsychiatric Syndrome (VANS) in Two Pedia...

Background: Viral or bacterial infections can trigger auto-immune inflammatory reactions and conditions in children. Self-reactivity arises due to similarities in molecular structures between pathogenic microorganisms and regular body structures with consequent immune-cross reactions. Reactivation of latent Varicella Zoster Virus (VZV) infections can cause neurological sequalae, including cerebellitis, post-her...

Association between cerebral folate deficiency and hereditary spastic paraplegia

Pyruvate Dehydrogenase Complex Deficiency: Updating the Clinical, Metabolic and...

Background: The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central nervous system. The aim of this study is to describe and discuss the clinical, biochemical and genotypic informatio...

Modeling Rett Syndrome With Human Patient-Specific Forebrain Organoids

Engineering brain organoids from human induced pluripotent stem cells (hiPSCs) is a powerful tool for modeling brain development and neurological disorders. Rett syndrome (RTT), a rare neurodevelopmental disorder, can greatly benefit from this technology, since it affects multiple neuronal subtypes in forebrain sub-regions. We have established dorsal and ventral forebrain organoids from control and RTT patient-...

Leigh syndrome with atypical cerebellar lesions

Leigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, with a severe prognosis. It can be caused by more than 75 different gene mutations, of nuclear and mitochondrial origin, involving all respiratory chain complexes, with less than 25% of Leigh syndrome having mitochondrial DNA mutations. The...

Assessment of benzoquinones and mycotoxins in cereal flour samples from Portuga...

One of the most relevant problems in stored grain is the contamination by insects and mycotoxin-producing fungi. The red flour beetle, Tribolium castaneum (Herbst) (Coleoptera, Tenebrionidae), one of the major key-pests of milled grain, is resistant to Beauveria bassiana infection, producing benzoquinone-containing defensive secretions, that reduce fungal germination and growth. It can be affirmed that the tene...

Leigh Syndrome with Atypical Cerebellar Lesions

Leigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, with a severe prognosis. It can be caused by more than 75 different gene mutations, of nuclear and mitochondrial origin, involving all respiratory chain complexes, with less than 25% of Leigh syndrome having mitochondrial DNA mutations. The...

GNAO1: a new gene to consider on early-onset childhood dystonia]

Satisfação com o Internato Médico em Portugal

INTRODUCTION: In the last years, the global context of medical education and Medical Residency programs in Portugal suffered substantial changes. The primary objective of this study was to evaluate and characterize medical residents ́ satisfaction with medical residency programs in Portugal and to identify features that could be improved. MATERIAL AND METHODS: We utilized as model the survey Postgraduate Hospit...

A large outbreak of Legionnaires’ Disease in an industrial town in Portugal

Background We describe the investigation and control of an outbreak of Legionnaires’ disease in Portugal in October, November and December 2014. Methods Confirmed cases were individuals with pneumonia, laboratory evidence of Legionella pneumophila serogroup 1 and exposure, by residence, occupational or leisure to the affected municipalities. 49 possible sources were reduced to four potential sources, all indust...