Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Adicionar filtros








Tipo de estudo
Intervalo de ano
1.
Journal of Zhejiang University. Medical sciences ; (6): 693-700, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1009941

RESUMO

OBJECTIVES@#To analyze the clinical and genetic characteristics of children with autosomal dominant neurodevelopmental disorders caused by kinesin family member 1A (KIF1A) gene variation.@*METHODS@#Clinical and genetic testing data of 6 children with KIF1A gene de novo heterozygous variation diagnosed in Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine from the year 2018 to 2020 were retrospectively analyzed. Pathogenic variants were identified based on whole exome sequencing, and verified by Sanger sequencing. Moreover, the effect of variants on three-dimensional structure and stability of protein was analyzed by bioinformatics.@*RESULTS@#Among 6 patients there were 4 males and 2 females, and the age of consultation varied from 7 months to 18 years. All cases had varying degrees of motor developmental delay since childhood, and 4 of them had gait abnormalities or fell easily. In addition, 2 children were accompanied by delayed mental development, epilepsy and abnormal eye development. Genetic tests showed that all 6 cases had heterozygous de novo variations of KIF1A gene, including 4 missense mutations c.296C>T (p.T99M), c.761G>A (p.R254Q), c.326G>T (p.G109V), c.745C>G (p.L249V) and one splicing mutation c.798+1G>A, among which the last three variants have not been previously reported. Bioinformatics analysis showed that G109V and L249V may impair their interaction with the neighboring amino acid residues, thereby impacting protein function and reducing protein stability, and were assessed as "likely pathogenic". Meanwhile, c.798+1G>A may damage an alpha helix in the motor domain of the KIF1A protein, and was assessed as "likely pathogenic".@*CONCLUSIONS@#KIF1A-associated neurological diseases are clinically heterogeneous, with motor developmental delay and abnormal gait often being the most common clinical features. The clinical symptoms in T99M carriers are more severe, while those in R254Q carriers are relatively mild.


Assuntos
Masculino , Feminino , Humanos , Criança , Estudos Retrospectivos , China , Mutação , Epilepsia/genética , Transtornos do Neurodesenvolvimento/genética , Cinesinas/genética
2.
Journal of Clinical Hepatology ; (12): 2310-2314, 2020.
Artigo em Chinês | WPRIM | ID: wpr-829408

RESUMO

Portal hypertension (PH) is a common clinical syndrome, and the main risk factor for death is esophageal variceal bleeding. Therefore, the early and accurate diagnosis of PH can reduce the incidence rate of serious complications and mortality rate. Hepatic venous pressure gradient, as a main method for the diagnosis of PH, has certain limitations in clinical application, and thus it is necessary to explore new noninvasive diagnostic techniques. Up to now, ultrasound elastography has become one of the important methods for the noninvasive assessment of PH. This article elaborates on its current application and prospects in the assessment of PH.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA