A5078435186- Mosquito-borne diseases and control
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Virology and Viral Diseases
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- Folate and B Vitamins Research
- Mitochondrial Function and Pathology
- Viral Infections and Vectors
- Genomics and Rare Diseases
- Hereditary Neurological Disorders
- Cellular transport and secretion
- Child Nutrition and Water Access
- Neonatal Health and Biochemistry
- Neurological diseases and metabolism
- Global Maternal and Child Health
- Infectious Encephalopathies and Encephalitis
- Muscle Physiology and Disorders
- Power Quality and Harmonics
- RNA regulation and disease
- Maternal and Neonatal Healthcare
- Power Transformer Diagnostics and Insulation
- Cerebrovascular and genetic disorders
- Cell Adhesion Molecules Research
Hospital Infantil Albert Sabin
2016-2025
Universidade Estadual do Ceará
2016-2025
Universidade Federal do Ceará
2024-2025
Universidade Estadual de Campinas (UNICAMP)
2024
Universidade de São Paulo
2006-2023
Universidade Federal de Sergipe
2023
BioMarin (United States)
2022
Weatherford College
2022
Hospital de Clínicas de Porto Alegre
2022
Universidade Federal de São Paulo
2020-2022
Brazil is facing its first outbreak of Zika virus, particularly in the northeast region. Most cases virus infection are self-limited and without sequelae, but there have been clusters microcephaly some areas known transmission. Although strongly suspected, causal relation between in-utero exposure to yet be established. The increased number has led a high level concern among pregnant women throughout country. On Feb 1, 2016, WHO's International Health Regulations Emergency Committee advised...
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...
<h3>Background</h3> Mutations in the <i>KIAA2022</i> gene have been reported male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 who carry a heterozygous de novo mutation share phenotype characterised by disability epilepsy. <h3>Methods</h3> Reported females selected for genetic testing because of substantial developmental problems and/or X-inactivation expression studies performed when possible. <h3>Results</h3> All mutations...
Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum (ASD), and mild dysmorphisms associated with several comorbidities caused SHANK3 loss-of-function mutations. Although haploinsufficiency has been the major neurological symptoms of PMS, it cannot explain clinical variability seen among individuals. Our goals were to characterize Brazilian cohort PMS individuals, explore genotype-phenotype...
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...
Oropouche fever is caused by the virus (OROV; Bunyaviridae, Orthobun-yavirus), one of most frequent arboviruses that infect humans in Brazilian Amazon. This year, an OROV outbreak was identified Brazil, and its vertical trans-mission reported, which associated with fetal death microcephaly. We describe clinical manifestations three cases congenital infec-tion confirmed serology (OROV-IgM) mother-newborn binomial. One newborns died, post-mortem molecular analysis using real-time RT-qPCR...
Congenital hypothyroidism (CH) is a leading preventable cause of intellectual developmental disorders, with prevalence 1 in 2,000 to 4,000 newborns. Neonatal screening programs play crucial role early detection and prevention long-term neurodevelopmental consequences. This article presents the case 6-year-old female patient history delayed growth neuropsychomotor development due CH, exacerbated by poor adherence levothyroxine treatment. The exhibited typical clinical features including short...