A5008744772- Autism Spectrum Disorder Research
- Child Nutrition and Feeding Issues
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Neonatal and fetal brain pathology
- Family and Disability Support Research
- Infant Development and Preterm Care
- Congenital Anomalies and Fetal Surgery
- Academic Research in Diverse Fields
- Attention Deficit Hyperactivity Disorder
- Epilepsy research and treatment
- Muscle Physiology and Disorders
- Airway Management and Intubation Techniques
- Long-Term Effects of COVID-19
- Congenital Heart Disease Studies
- Pharmacological Effects and Toxicity Studies
- Cardiovascular and Diving-Related Complications
- Multiple Sclerosis Research Studies
- Infectious Encephalopathies and Encephalitis
- Obsessive-Compulsive Spectrum Disorders
- Veterinary Equine Medical Research
- Neuroendocrine regulation and behavior
- Pharmaceutical studies and practices
- Glycogen Storage Diseases and Myoclonus
Hospital de Clínicas de Porto Alegre
2008-2024
Universidade Federal de São Paulo
2020
Universidade de São Paulo
2020
Hospital das Clínicas da Universidade Federal de Minas Gerais
2020
Universidade Federal do Rio Grande do Sul
2008-2019
Universidade Federal de Santa Maria
2003
Centre Hospitalier Universitaire de Besançon
1994
Abstract Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1. SMA-5q characterized progressive degeneration of spinal cord and bulbar motor neurons, causing severe respiratory impairment with reduced survival, especially its more clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting regulating splicing exon 7 SMN2 gene or adding a copy SMN1 through therapy,...
OBJECTIVE: To translate into Brazilian Portuguese the Autism Diagnostic Interview-Revised (ADI-R), an extremely useful diagnostic tool in autism. METHODS: A case-control study was done to validate ADI-R. After being translated, interview applied a sample of 20 patients with autism and intellectual disability without autism, order obtain initial psychometric properties. RESULTS: The internal consistency high, Crombach 0.967. validity criterion had sensitivity specificity 100%, having as gold...
The aim of the study was to report proportion homozygous and compound heterozygous variants in survival motor neuron 1 (SMN1) gene a large population patients with spinal muscular atrophy (SMA) correlate severity disease presence specific intragenic SMN1 SMN2 copy number.Four hundred fifty Brazilian SMA were included retrospective study, clinical data analyzed compared genetic data; number obtained by multiplex ligation-dependent probe amplification pathogenic next-generation sequencing.Four...
Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence 1 in 10,000 live births. Testing for SMA has been recommended inclusion neonatal screening (NBS) panels since there are several therapies available and evidence greater efficacy when introduced pre/early symptomatic phases. In Brazil, National Neonatal Screening Program tests six diseases, a new law issued 2021 stating that it should incorporate more including SMA....
Abstract The identification of biomarkers for spinal muscular atrophy is crucial predicting disease progression, severity, and response to new disease-modifying therapies. This study aimed investigate the role serum levels myostatin follistatin as atrophy, considering muscle secondary denervation main clinical manifestation disease. evaluated differential gene expression in a lesional model gastrocnemius mice, well meta-analysis three datasets transgenic mice models two studies involving...
▪ Abstract Objective: To validate CHIPPS (Children's and Infants' Postoperative Pain Scale) in Brazilian children. Background: Cross‐validation is needed order to apply this scale a different language culture. Methods: We applied Portuguese version of 100 children aged 0 5 years. The was translated tested for inter‐rater reliability, internal consistency, construct, content, concurrent validity. children's behavior videotaped before, during after procedure primary care unit. Three observers...
<b>Objective</b> The objective of this study is to describe the usefulness topiramate in refractory neonatal seizures. <b>Results</b> We reported clinical off-label use three cases seizures unclear origin with no response conventional antiepileptic drugs. In all cases, were completely controlled adding topiramate. All patients became seizure free during hospitalization and followed by approximately 1 year after hospital discharge, monotherapy <b>Comments</b> still incipient. When searching...
Different types of mutations in the DMD gene underlie Duchenne muscular dystrophies ( ) and Becker BMD ). Large deletions duplications are most frequent causative genetic alterations worldwide, but little is known about / profile Brazil. Hence, we recruited patients with from 8 neuromuscular reference centers along country, performed a comprehensive molecular investigation that included Multiplex Ligation‐dependent Probe Amplification Next generation sequencing (NGS) analyses. We evaluated...
OBJECTIVE: To determine the clinical characteristics and results of bronchoscopic treatment children due to foreign body aspiration in a university hospital. METHOD: Time series who underwent bronchoscopies for bodies aspirated into airway between March 1993 July 2002. Each patient was analyzed age, sex, initial diagnosis, nature location body, duration symptoms bronchoscopy, radiological findings, removal, complications bronchoscopy presence airways. RESULTS: Thirty-four children, 20 (59%)...
To evaluate the safety, tolerability and potential therapeutic effects of gastrin-releasing peptide in three children with autistic spectrum disorder. Case series study intravenous administration dose 160 pmol/kg for four consecutive days. results, parental impressions Childhood Autism Rating Scale (CARS) Clinical Global Impression (CGI) Scale. Each child underwent a new cycle after two weeks. The were followed weeks end infusions. was well tolerated no had adverse effects. Two improved...
The aim of this study was to determine the efficacy and tolerability gastrin-releasing peptide (GRP) for core symptoms autism spectrum disorder.This is a prospective, open-label with 160 pmol/kg GRP tested in 10 children autism. Outcome measures used were Clinical Global Impressions-Improvement Scale, Aberrant Behavior Checklist (ABC), Childhood Autism Rating Diagnostic Interview-Revised. Positive response defined as score 1 (very much improved) or 2 (much on Scale an improvement 25% greater...
The aim of this study was to evaluate the efficacy, safety, and tolerability gastrin-releasing peptide (GRP) compared with placebo in autism spectrum disorder symptoms.This is a randomized, double-blind, placebo-controlled crossover trial using GRP 160 pmol/kg for 4 consecutive days 10 children autism. Outcomes were measured by Aberrant Behavior Checklist (ABC) scale.All participants boys, aged between 9 years. There reduction scores ABC range its subscales after use placebo. more prominent...
Introduccion. Durante el nacimiento, ocurren cambios fisiologicos en practicamente todos los organos del nino, incluyendo sistema nervioso central. En esta fase de transicion, es posible un cierto grado hipoxemia, general bien tolerado por neonato. Sin embargo, si la hipoxia neonatal muy intensa y continuada, puede instalarse una encefalopatia neonatal, lo que caracteriza situacion critica para recien nacido. Su abordaje adecuado imprescindible garantizar buen pronostico a largo plazo....