A5013235717- Lysosomal Storage Disorders Research
- Genomic variations and chromosomal abnormalities
- Glycogen Storage Diseases and Myoclonus
- Prenatal Screening and Diagnostics
- Connective tissue disorders research
- Carbohydrate Chemistry and Synthesis
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Child Nutrition and Feeding Issues
- Cystic Fibrosis Research Advances
- Genetic Syndromes and Imprinting
- Sexual Differentiation and Disorders
- Epigenetics and DNA Methylation
- Hedgehog Signaling Pathway Studies
- Congenital limb and hand anomalies
- Health, Nursing, Elderly Care
- Congenital Anomalies and Fetal Surgery
- Neonatal Respiratory Health Research
- Fetal and Pediatric Neurological Disorders
- DNA Repair Mechanisms
- Tumors and Oncological Cases
- RNA modifications and cancer
- Trypanosoma species research and implications
Fundação Oswaldo Cruz
2015-2025
National Institute on Population Medical Genetics
2018-2024
Faculdade de Medicina de Petrópolis
2015-2022
Fundação Instituto de Pesca do Estado do Rio de Janeiro
2012-2022
Instituto de Medicina Integral Professor Fernando Figueira
2022
Universidad Dr. José Gregorio Hernández
2022
Instituto Nacional de Saúde
2017
Ian's Friends Foundation
2012-2016
Jena University Hospital
2012
Belarusian State Medical University
2012
Abstract Misoprostol, a synthetic analog of prostaglandin, has been widely used in Brazil as an abortifacient. Abortion is illegal Brazil. An uncertain number these abortion attempts are unsuccessful and the pregnancy continues. We report on 7 patients whose mothers attempted to abort using this drug first trimester gestation without success. The presented with limb defects 4 them diagnosis Möbius sequence was made. © 1993 Wiley‐Liss, Inc.
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one lysosomal enzymes involved in glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to accumulation GAG various organs and tissues affected patients, resulting a multisystemic clinical picture, sometimes including cognitive impairment. Until beginning XXI century, treatment was mainly supportive. Bone marrow transplantation improved natural course disease some types MPS, but morbidity...
Prenatal exposure to misoprostol has been associated with Moebius and limb defects. Vascular disruption proposed as the mechanism for these teratogenic effects. The present study is a multicenter, case-control that was designed compare frequency of prenatal use between mothers Brazilian children diagnosed vascular defects matched control other types A total 93 cases 279 controls were recruited in eight participating centers. identified 32 infants (34.4%) compared only 12 (4.3%) group...
Identification of variants in the acid α-glucosidase (GAA) gene Pompe disease provides valuable insights and systematic overviews are needed. We report on number, nature, frequency, geographic distribution GAA sequence listed Registry, a long-term, observational program largest global repository data. Variant information was reviewed compared with publicly available databases/resources. Among 1,079 eligible patients, 2,075 (80 unique novel) were reported. Variants by groups representing...
Xia‒Gibbs syndrome (XGS) is a rare intellectual disability (ID) caused by de novo AHDC1 pathogenic variants. We characterized clinical and molecular features of 16 Brazilian patients with XGS. Patient data were collected through semistructured interviews family members, reanalysis previous health genetic assessments, reports from physicians. Genomic variants their segregation validated via Sanger sequencing. Statistical analyses conducted to evaluate genotype‒phenotype associations. Twelve...
Xia‒Gibbs syndrome (XGS) is a rare intellectual disability (ID) caused by de novo AHDC1 pathogenic variants. We characterized clinical and molecular features of 16 Brazilian patients with XGS. Patient data were collected through semistructured interviews family members, reanalysis previous health genetic assessments, reports from physicians. Genomic variants their segregation validated via Sanger sequencing. Statistical analyses conducted to evaluate genotype‒phenotype associations. Twelve...
O impacto dos defeitos congênitos no Brasil vem aumentando progressivamente, tendo passado da quinta para a segunda causa óbitos em menores de um ano entre 1980 e 2000, apontando necessidade estratégias específicas na política saúde. Foram localizadas, Brasil, direcionadas aos congênitos, ações governamentais não-governamentais. Estas envolvem serviços informação sobre agentes teratogênicos gravidez doenças metabólicas geneticamente determinadas, monitorização programa triagem neonatal...
Mucopolysaccharidosis type II (MPS - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to accumulation of glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross blood brain barrier, limiting results neurological forms disease. Another option treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become choice form MPS I, since it can preserve...
Resumo Buscou-se conhecer experiências de pacientes com doenças raras a partir da reconstrução dos itinerários terapêuticos, obtidos entre 2021 e 2022 por análise temática. Foram observadas comuns no enfrentamento do adoecimento raro, semelhantes às referidas globalmente, perpetuando círculo vicioso especialidades, obtenção diagnóstico, terapêuticas pós-diagnósticas, ausência informação qualificada disseminação conhecimento. A chegada ao serviço referência revelou novo sentido, pautado na...
Avaliou-se a ocorrência de defeitos congênitos em nascidos vivos no Município do Rio Janeiro, Brasil, com base Sistema Informações sobre Nascidos Vivos (SINASC), período 1º janeiro 2000 31 dezembro 2004. Através um estudo seccional e descritivo, estudaram-se as variáveis relativas aos (presença aparelho ou sistema acometido), serviços saúde, às mães, gestações, recém-natos partos. Constatou-se uma prevalência 83/10 mil vivos. Os sistemas orgânicos mais afetados foram o osteomuscular, nervoso...
Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic and multisystem lysosomal storage disease with wide spectrum. Clinical biochemical improvements have been reported for MPS patients on enzyme replacement therapy (ERT) rhASB (recombinant human arylsulfatase B; galsulfase, Naglazyme®, BioMarin Pharmaceutical Inc.), making early diagnosis intervention imperative optimal patient outcomes. Few studies included children younger than five years of age. This report describes 34 that...
Recently, array-comparative genomic hybridization (aCGH) platforms have significantly improved the resolution of chromosomal analysis allowing identification copy number gains and losses smaller than 5 Mb. Here we report on a young man with unexplained severe mental retardation, autism spectrum disorder, congenital malformations comprising hypospadia omphalocele, episodes high blood pressure. An ~ 6 Mb interstitial deletion that includes causative genes is identified by oligonucleotide-based...
O impacto dos defeitos congênitos no Brasil vem aumentando, apontando para a necessidade de estratégias específicas na política saúde. Apesar da íntima ligação genética clínica com atenção aos congênitos, menos 30% demanda sendo absorvida pelos serviços do país. São problemas congênitos: dificuldades acesso concentração destes Sul/Sudeste e suporte laboratorial insuficiente. Para melhor abordagem ações o estabelecimento em deveriam ser deflagradas, preferencialmente sob coordenação grupo...