A5103153042- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Glycogen Storage Diseases and Myoclonus
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Biotin and Related Studies
- DNA Repair Mechanisms
- Cellular transport and secretion
- Cystic Fibrosis Research Advances
- Chromosomal and Genetic Variations
- Metabolism and Genetic Disorders
- Click Chemistry and Applications
- Connective tissue disorders research
- Genetic Neurodegenerative Diseases
- Oral and gingival health research
- Prenatal Screening and Diagnostics
- Bone health and treatments
- Congenital heart defects research
- Bone fractures and treatments
- Genomics and Rare Diseases
- Congenital Heart Disease Studies
- Biomedical Research and Pathophysiology
- Neurological diseases and metabolism
- Pharmaceutical studies and practices
- Tracheal and airway disorders
Universidade Federal de Campina Grande
2014-2024
Universidade Federal do Ceará
2021
Universidade Federal de Uberlândia
2021
Universidade Federal de Mato Grosso do Sul
2021
Universidade Federal da Paraíba
2019
National Institute on Population Medical Genetics
2018
In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). response, Society Medical Genetics established a task force (SBGM‐ZETF) to study phenotype infants born with microcephaly due ZIKV congenital infection and delineate phenotypic spectrum this newly recognized teratogen. This was based on clinical evaluation neuroimaging 83 during period from July, 2015 March, 2016 registered by SBGM‐ZETF. All had significant findings consistent 12 confirmed IgM in CSF. A...
Abstract The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry Health to reduce morbidity and mortality improve quality life people rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated Public System, 18 specialised centres so far at university hospitals (UH) in capitals Southern, Southeastern Northeastern regions. However, whether available human technological resources...
Conventional karyotyping detects anomalies in 3-15% of patients with multiple congenital and mental retardation (MCA/MR). Whole-genome array screening (WGAS) has been consistently suggested as the first choice diagnostic test for this group patients, but it is very costly large-scale use developing countries. We evaluated a combination Multiplex Ligation-dependent Probe Amplification (MLPA) kits to increase detection rate chromosomal abnormalities MCA/MR patients. screened 261 two...
Abstract Background Xeroderma pigmentosum (XP) patients present a high risk of developing skin cancer and other complications at an early age. This disease is characterized by mutations in the genes related to DNA repair system. Objectives To describe clinical molecular findings cohort 32 Brazilian individuals who received diagnosis XP. Methods Twenty‐seven families were screened for germline variants eight XP‐related genes. Results All ( N = 32) diagnosed with bi‐allelic pathogenic or...
Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac abnormalities, it characterized as a syndromic (syndromic CHD) and corresponds to 25% of all liveborn infants defect. The etiology in about 65% cases still remains unknown, 35% patients, genetic factors. In present study, MLPA SNP-array techniques were used investigate group 47 patients CHD. total, 16 defects (34%) identified, which 12 (25.5%) classified pathogenic or...
Introduction The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate genotype-biochemical in patients with low activity. Methods All exons, 5'UTR promoter of gene were sequenced 72 Brazilian individuals who exhibited For each patient, expected based on known was compared observed phenotype. Additional non-genetic factors that could affect activity...
Abstract Background Disease‐related variants in PHEX cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting hypophosphatemia and 1,25(OH) 2 vitamin D deficiency. manifests early life with rickets persists adulthood osseous extraosseous manifestations. Conventional therapy (oral phosphate calcitriol) improves some symptoms, but evidence show that it is not completely effective, can lead to nephrocalcinosis (NC) hyperparathyroidism (HPT). Burosumab...
The Brazilian Policy for Comprehensive Care People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases (RDs) are scarce and mainly focused specific disorders. To address this gap, University Hospitals, Reference Services Neonatal Screening, Diseases, all of which public health institutions, established the Network (RARAS) 2020. objective study to perform a comprehensive nationwide investigation individuals RDs Brazil. This retrospective survey...
Mucopolysaccharidosis type IIIC (MPSIIIC) is a severe, rare autosomal recessive disorder caused by variants in the heparan-α-glucosaminide N-acetyltransferase (HGSNAT) gene which result lysosomal accumulation of heparan sulfate. We analyzed clinical presentation, molecular defects and their haplotype context 78 (27 novel) MPSIIIC cases from 22 countries, largest group studied so far. describe for first time disease-causing patients Brazil, Algeria, Azerbaijan, Iran, extend spectrum within...
Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families Ceará State, a region Brazilian Northeast, giving local 3 million. This associated with high parental consanguinity, suggesting possible founder effect, prompted us perform molecular investigation these test this hypothesis.The CTSK gene was sequenced by Sanger method patients and their...
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, leading to the progressive accumulation glycosaminoglycans (GAGs) and subsequent compromising tissues organ malfunction. Although incurable, most types MPS can be treated with enzyme replacement therapy (ERT), an approach that has had positive effects on natural clinical evolution which impact been extensively investigated. Unfortunately, date, there is relatively little data regarding ERT interruption, especially in...
Abstract Background Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum spinal compression. Additionally, patients affected this condition have higher frequency of sleep disorders, ear infections, hearing loss slowed development milestones. Considering these clinical features, we aimed to summarize regional experts’ recommendations...
In several patients, intellectual disability and/or congenital malformation may be attributed to chromosomal changes.In this study, we conducted an array-CGH test of 200 patients from the Northeast Brazil with malformation.Blood samples were collected proband and their parents when possible.DNA was extracted investigated using test.Findings evaluated for pathogenicity in databases benign pathogenic changes (ISCA, UCSC, DGV, DECIPHER).Forty-seven copy number variations (CNVs) identified...
Mucopolysaccharidosis (MPS) IVA is a rare autosomal recessive disease with highly variable distribution worldwide. Discrepancies in the incidence of MPS among populations different ethnicities are mostly attributed to founder effects. Demographic and clinical data from 28 patients, followed at single center, ancestry (Y chromosome mitochondrial markers) subsample 17 most p.Ser341Arg (c.1023C>G) mutation were analyzed. Parental consanguinity was observed 15/20 couples; homozygous...
Mucopolysaccharidosis type II (MPS II) is an X‐linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of lysosomal enzyme iduronate‐2‐sulfatase and consequent widespread storage glycosaminoglycans, several clinical consequences, with progressive manifestations which most times includes cognitive decline. MPS has wide allelic heterogeneity a complex genotype–phenotype correlation. We evaluated data from 501 Brazilian patients diagnosed 1982 2020....
O PSF foi implantado como uma estratégia de mudança e reordenamento do modelo assistencial, visando a superar fragmentação cuidado e, para tanto, propõe um atendimento integral, qualidade sobretudo, humanizado. Este trabalho teve por objetivo identificar vem sendo cuidada criança menor ano pelos profissionais PSF. estudo tem abordagem qualitativa os dados foram produzidos no contexto quatro oficinas sensibilização criatividade, cujo conteúdo gravado transformado em corpus discursos,...
Objetivo: Avaliar a qualidade de vida (QV) pessoas com mucopolissacaridose (MPS) através do instrumento 5Q-5D. Métodos: Realizou-se um estudo observacional descritivo, prospectivo e analítico, avaliando QV em pacientes MPS Hospital Universitário Campina Grande na Paraíba, da aplicação EQ-5D-3L versão simplificada para adultos EQ-5D-Y, crianças adolescentes. Resultados: A amostra era composta por I, IV VI, média idade 20,6 ± 8,5 anos, 50% cada gênero, media ao diagnóstico foi 4,9 6,5 anos....