Consulta: subjectFacets:"Lysosomal storage disease"
Registros recuperados: 4
Data/hora: 07/06/2024 00:29:51

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart
Provedor de dados: 74
Autores: Brusius-Facchin,Ana Carolina; Siebert,Marina; Leão,Delva; Malaga,Diana Rojas; Pasqualim,Gabriela; Trapp,Franciele; Matte,Ursula; Giugliani,Roberto; Leistner-Segal,Sandra.
Abstract Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of these enzymes will result in the abnormal accumulation of GAGs inside the lysosomes of most cells, inducing progressive cellular damage and multiple organ failure. DNA samples from 70 patients with biochemical diagnosis of different MPSs genotypes confirmed by Sanger sequencing were used to evaluate a Next Generation Sequencing (NGS) protocol. Eleven genes related to MPSs were divided into three different panels according to the clinical phenotype. This strategy led to the identification of several pathogenic mutations distributed...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Lysosomal storage disease; Mucopolysaccharidoses; Next generation sequencing; Target sequence; Mutation detection.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200207

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases
Provedor de dados: 74
Autores: Poletto,Edina; Pasqualim,Gabriela; Giugliani,Roberto; Matte,Ursula; Baldo,Guilherme.
Abstract Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range of clinical manifestations, including cardiovascular disease. This may lead to significant symptoms and even cardiac failure, which is an important cause of death among patients. Currently available treatments do not completely correct cardiac involvement in the LSDs. Gene therapy has been tested as a therapeutic alternative with promising results for the heart disease. In this review, we present the results of different approaches of gene therapy for LSDs, mainly in animal models, and its effects in the heart, focusing on protocols with cardiac functional analysis.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Lysosomal storage disease; Gene therapy; Cardiovascular disease; Animal models; Heart.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200261

Serum hexosaminidase and ß-glucuronidase activities in infants: effects of age and sex
Provedor de dados: 56
Autores: Mabe,P.; Beck,M.
We investigated the effect of age and sex on the serum activity of hexosaminidase (HEX) and ß-glucuronidase (BGLU) in 275 normal term infants aged 12 h to 12 months. Up to six weeks of life, HEX was significantly higher in boys (P&lt;=0.023). During the age period of 1-26 weeks, BGLU was also higher in boys, but differences were significant only at 2-6 and 7-15 weeks (P&lt;=0.016). The developmental pattern of HEX and BGLU was sex dependent. HEX activity increased in both sexes from 4-7 days of life, reaching a maximum of 1.4-fold the birth value at 2-6 weeks of age in boys (P&lt;0.001) and a maximum of 1.6-fold at 7-15 weeks in girls (P&lt;0.001). HEX activity gradually decreased thereafter, reaching significantly lower levels at 27-53 weeks than during...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Lysosomal storage disease; GM2 gangliosidosis; Mucopolysaccharidosis type VII; Hexosaminidase; SS-Glucuronidase.
Ano: 2003
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000300013

Ipomoea brasiliana poisoning on buck reproduction
Provedor de dados: 65
Autores: Cunha,Ana Lizia Brito da; Medeiros,Juliana Pinto de; Riet-Correa,Franklin; Gardner,Dale; Chaves,Hisadora Advíncula da Silva; Silva Filho,Givaldo Bom da; Souza,Francisco de Assis Leite; Evêncio Neto,Joaquim; Mendonça,Fábio de Souza.
ABSTRACT:  Swainsonine-containing plants comprise a group of important poisonous plants in Brazil. This research aimed to characterize both the behavioral changes related to reproduction and appearance of lesions in the reproductive system of bucks poisoned by Ipomoea brasiliana. I. brasiliana plants were collected and administered at a dose of 4g/kg (800µg swainsonine/kg) to two groups of bucks for 45 days. Goats from Group I were euthanized on the 46th day of the experiment, and goats from Group II were euthanized on the 120th day. Group III was composed of goats that did not receive I. brasiliana and were euthanized on the 120th day of the experiment. Reproductive behavioral changes were observed starting on day 20 and were characterized by an absence...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Alkaloids; Lysosomal storage disease; Plant poisoning; Ruminants.
Ano: 2018
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782018001000552