23 documents found, page 1 of 3

Recognition of Kabuki Syndrome

Neuromyelitis Optica Spectrum Disorders: a Nationwide Portuguese Clinical Epide...

Introduction: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits. Objective: To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics. Methods: This was a nationwide multicenter study. Twenty-four Portuguese adult and 3 neuropediatric centers following NMOSD patients...

Multiple Sclerosis Patient Management During the COVID-19 Pandemic: Practical R...

The spread of the COVID-19 pandemic has imposed significant challenges on healthcare provision, requiring changes in the conventional patient management, particularly in chronic diseases like multiple sclerosis (MS). To increase patient safety and reduce the risk of infection, while ensuring an appropriate and regular follow-up, tele-medicine gained prominence as a valid alternative to face-to-face appointments...

REALMS study: real-world effectiveness and safety of fingolimod in patients wit...

Background: Fingolimod, an oral sphingosine 1-phosphate receptor modulator, is approved by EMA for relapsing-remitting multiple sclerosis (RRMS). Objectives: To assess the effectiveness and safety of fingolimod in patients with RRMS in real-world clinical practice in Portugal. Methods: Retrospective, multicentre, non-interventional study, reporting 3 years follow-up of data collected from October 2015 to July 2...

Genomic imbalances defining novel intellectual disability associated loci

Background: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...

Severe hypoglycaemia in diabetic patients in Pre-hospital and Emergency Departm...

Objective: We aimed to characterize hypoglycaemia episodes and patients examined by a Pre-hospital Medical Emergency Unit (PH) and in the Emergency Department (ED) of our hospital. Results: We identified 86 episodes of severe hypoglycaemia (PH: n 37; ED: n 49; both: n 12). Hypoglycaemia accounted for 4.7% of all emergency calls attended by the PH (n 793) and 0.11% of all ED episodes (n 54,366). Among episodes e...

Copy number variants prioritization after array-CGH analysis - a cohort of 1000...

Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to ...

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene c...

Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two...

MÓDULO 6 - Genética, Metabólicas, Neuroimagem/EEG e Pedopsiquiatria

Medicina Interna. O Futuro Hoje