Consulta: creatorFacets:"Zhu,J."
Registros recuperados: 3
Data/hora: 11/06/2024 11:18:40

A case of severe glutathione synthetase deficiency with novel GSS mutations
Provedor de dados: 56
Autores: Xia,H.; Ye,J.; Wang,L.; Zhu,J.; He,Z.
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made. DNA sequence analysis revealed the infant to be compound heterozygous with two mutations, c.738dupG in exon 8 of GSS gene resulting in p.S247fs and a repetitive sequence in exon 3 of GSS gene. Treatment after diagnosis of GSSD...
Tipo: Info:eu-repo/semantics/report
Palavras-chave: Glutathione synthetase; 5-oxoprolinuria; Newborn; Metabolism; Mutation.
Ano: 2018
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000300501

Association between Toll-like receptor 4 Asp299Gly polymorphism and coronary heart disease susceptibility
Provedor de dados: 56
Autores: Wu,B.W.; Zhu,J.; Shi,H.M.; Jin,B.; Wen,Z.C.
Published data on the association between Toll-like receptor 4 (TLR4) Asp299Gly polymorphism and coronary heart disease (CHD) susceptibility are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. English-language studies were identified by searching PubMed and Embase databases (up to November 2016). All epidemiological studies were regarding Caucasians because no TLR4 Asp/Gly and Gly/Gly genotypes have been detected in Asians. A total of 20 case-control studies involving 14,416 cases and 10,764 controls were included in the meta-analysis. Overall, no significant associations were found between TLR4 Asp299Gly polymorphism and CHD susceptibility in the dominant model (OR=0.89; 95%CI=0.74 to 1.06; P=0.20)...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Toll-like receptor 4; Polymorphism; Coronary heart disease; Meta-analysis.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2017000900609

HLA-DR3 antigen in the resistance to idiopathic dilated cardiomyopathy
Provedor de dados: 56
Autores: Jin,B.; Wu,B.W.; Wen,Z.C.; Shi,H.M.; Zhu,J.
Idiopathic dilated cardiomyopathy (IDC) has been hypothesized as a multifactorial disorder initiated by an environment trigger in individuals with predisposing human leukocyte antigen (HLA) alleles. Published data on the association between HLA-DR3 antigen and IDC risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. Studies were identified by searching the PUBMED and Embase database (starting from June 2015). A total of 19 case-control studies including 1378 cases and 10383 controls provided data on the association between HLA-DR3 antigen and genetic susceptibility to IDC. Overall, significantly decreased frequency of HLA-DR3 allele (OR=0.72; 95%CI=0.58-0.90; P=0.004) was found in patients with IDC...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: HLA-DR; Dilated cardiomyopathy; Polymorphism; Meta-analysis.
Ano: 2016
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016000400708