A5066480126- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Amino Acid Enzymes and Metabolism
- Glycogen Storage Diseases and Myoclonus
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Carbohydrate Chemistry and Synthesis
- ATP Synthase and ATPases Research
- Diabetes and associated disorders
- Biomedical Research and Pathophysiology
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Genomics and Rare Diseases
- Diet and metabolism studies
- Muscle and Compartmental Disorders
- Pancreatic function and diabetes
- Renal and Vascular Pathologies
- Trypanosoma species research and implications
- Metabolomics and Mass Spectrometry Studies
- Cellular transport and secretion
- Cancer, Hypoxia, and Metabolism
- Genetics and Neurodevelopmental Disorders
- RNA and protein synthesis mechanisms
- Glycosylation and Glycoproteins Research
- Congenital Heart Disease Studies
Universidade Federal da Paraíba
2025
Hospital de São João
2010-2024
Universidade Federal de Minas Gerais
2024
Fleury S.A. (Brazil)
2024
Universidade do Porto
2024
Introduction: Rare disorders that are genetically and clinically heterogeneous, such as mitochondrial diseases (MDs), have a challenging diagnosis. Nuclear genes codify most proteins involved in biogenesis, despite all mitochondria having their own DNA. The development of next-generation sequencing (NGS) technologies has revolutionized the understanding many pathogenesis MDs. In this new genetic era, using NGS approach, we aimed to identify etiology for suspected MD cohort 450 Portuguese...
Os descartes inadequados de resíduos hospitalares trazem grandes consequências, uma vez que são responsáveis pela contaminação inúmeros comunicantes. A sensibilização dos profissionais saúde e da população sobre o descarte correto desses gerados é extrema importância para desenvolvimento ações direcionadas à preservação do meio ambiente. Logo, objetivo trabalho contribuir com gerenciamento serviço Hospital Municipal Marabá - HMM, através educativas na perspectiva socioambiental. Para isso,...
Introduction: Despite their hazardous nature, snake venoms hold immense potential for the development of novel therapies. This summary delves into key aspects venom research, focusing on significance as targets neutralization, utility drugs, application in silico studies, and future prospects with nanotechnology. Significance Snake Venom: harbors a rich diversity toxic proteins wide range biological activities. Its importance lies possibility neutralizing its detrimental effects exploring...
Abstract Dilated cardiomyopathy is the most common form of in paediatric population and an important cause heart transplantation children. The clinical profile course dilated children have been poorly characterised. A retrospective review 61 patients (37 female; 24 male) diagnosed with from January, 2005 to June, 2012 at a single institution was performed. median age diagnosis 15 months. Heart failure present 83.6% 44.3% required intensive care. prevalent causes were idiopathic (47.5%),...
The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects antigen and invariant Natural Killer T (iNKT) cell response were detected several mouse models lysosomal storage diseases (LSD), impact engorgement human is poorly characterized. Here, we analyzed capacity monocyte-derived dendritic cells (Mo-DCs) from Fabry, Gaucher, Niemann Pick type C Mucopolysaccharidosis VI disease patients to present exogenous lipid-specific cells. CD1b- CD1d-restricted...
Introduction: Mucopolysaccharidosis type VI (MPS VI) is a rare inherited metabolic disorder, primarily attributed to the deficiency of enzyme N-acetylgalactosamine-4-sulfatase, responsible for degradation dermatan sulfate and chondroitin-4-sulfate. Therefore, there widespread accumulation partially degraded glycosaminoglycans. Corneal opacification hallmark ocular feature in MPS. Retinal scleral involvement this MPS extremely rare. The purpose work was describe novel fundoscopic alterations...
Corynebacterium auriscanis is a bacterial species frequently isolated from dogs with external otitis or dermatitis and zoonotic pathogen transmitted by dog bite. It considered an opportunistic pathogen, but its pathogenicity mechanisms are poorly studied. Comparative genomics can identify virulence niche factors that could contribute to understanding lifestyle.
Combined oxidative phosphorylation deficiency 20 (COXPD20) is a mitochondrial respiratory chain complex (RC) disorder, caused by disease-causing variants in the VARS2 gene, which encodes aminoacyl-tRNA synthetase. Here we describe patient with fatal encephalopathy homozygous gene missense variant.We report case of girl, first child non-consanguineous and healthy parents, born from an uneventful term pregnancy, who presented, neonatal period, major hypotonia microcephaly. At 4 months age she...
The symptoms of autoimmune encephalitis with antibodies directed against neuronal cell surface antigens are generally reversible by removing the or antibody-producing B cells.1
LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family Rhabdomyolysis (RM) is characterized by acute and often severe skeletal muscle damage resulting myoglobinuria and, cases, renal failure [1].In adults typically due to trauma, intoxication or infection, whereas children frequently inherited disorders [2].LPIN1 mutations were identified as a cause of recurrent RM, which usually begin childhood, infections are most frequent trigger [3,4].LPIN1 spans 19...
Abstract Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described. This causes mislocalization of glucose‐6‐phosphate transporter to Golgi leading congenital glycosylation type II (SLC37A4‐CDG). Only one patient reported showing liver disease that improved with age and mild dysmorphism. Here we report second CDG same mutation thereby confirming pathogenicity this variant expanding clinical picture 1 diabetes, severe scoliosis,...
Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans degradation. MPS II is pathogenic mutations IDS gene, leading to enzyme iduronate-2-sulfatase, which causes dermatan and heparan sulfate lysosomes. In VI, there accumulation due ARSB arylsulfatase B deficiency. Alterations immune system mouse models have already been described, but data concerning MPSs patients still scarce....