OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Oral-facial-digital syndrome type Ⅰ(OFDSⅠ). METHODS: A child with OFDSⅠ who received treatment at the Women and Children's Hospital Affiliated to Ningbo University in March 2023 was selected as the study subject. A retrospective research method was used to collect the clinical data of the child. Peripheral venous blood samples were collected from the child, her parents and sister. Genomic DNA was extracted, and whole exome sequencing (WES) was performed. Candidate variants were validated using Sanger sequencing for familial verification. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines"), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Ningbo University Affiliated Women and Children's Hospital (Ethic No.: EC 2024-063). RESULTS: The child was a prematurely born female with deformities of the oral cavity, fingers, and toes. She was admitted to the Neonatal Department of the Hospital where she was born due to shortness of breath 15 minutes after birth. The WES results indicated that the child has harbored a heterozygous c.710dup (p.Y238Vfs*2) frameshifting variant of the OFD1 gene. Sanger sequencing confirmed that neither of the child's parents nor her sister had carried the same variant. According to the ACMG guidelines, the variant was rated as pathogenic (PVS1+PS4_Moderate+PM2-Supporting+PM6_Supporting+PP4). CONCLUSION Children with OFDSⅠ have clinical features such as oral, finger, and toe deformities. The c.710dup (p.Y238Vfs*2) variant of the OFD1 gene probably underlay the OFDSⅠ in this child. Above result has enriched the mutational spectrum of the OFD1 gene.
Humans ; Female ; Orofaciodigital Syndromes/genetics* ; Exome Sequencing ; Retrospective Studies ; Mutation ; Child ; Proteins

OBJECTIVE: To explore the genetic characteristics and pathogenesis for a child with mosaicism trisomy 21 and Congenital leukemia (CL). METHODS: A child who was admitted to Ningbo Women and Children's Hospital in March 2023 was selected as the study subject. A retrospective analysis was carried out on the clinical data, laboratory test results, immunophenotyping, and genetic characteristics of the child. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: EC2024-063). RESULTS: Whole genome sequencing (WGS) revealed that the child has mosaicism trisomy of chromosome 21, with a ratio of approximately 74%. In addition, copy number variations involving multiple OMIM genes that could explain his clinical phenotype were detected and rated as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). No pathogenic variant was detected with the GATA1 gene. Blood immune typing of the child conformed to the immunophenotype of acute myeloid leukemia. CONCLUSION For children with trisomy 21, even in the absence of GATA1 gene variants, the occurrence of CL should be monitored, and early diagnosis and treatment are of great significance for improving the prognosis.
Child, Preschool ; Humans ; DNA Copy Number Variations/genetics* ; Down Syndrome/genetics* ; GATA1 Transcription Factor/genetics* ; Leukemia/congenital* ; Mosaicism ; Mutation ; Retrospective Studies ; Whole Genome Sequencing

Objective To investigate the health knowledge and behaviors related to traditional Chinese medicine (TCM) among the elderly of communities in national TCM health education pilot area of Zhejiang province and provide reference for TCM health education. Methods A survey about the health knowledge and behaviors status related to TCM was made among 600 elderly people in Gongshu District. The survey included demographic characteristics, health knowledge of TCM and health behaviors related to TCM. The univariate and multivariate analyses were used for analyzing the health knowledge and behavior status and influencing factors of the elderly. Results The awareness rate of knowledge about TCM health knowledge in elderly was 94.7%, the qualified rate of TCM behaviors was only 31.6%. It showed that the qualified TCM behaviors among the elders were significantly different in those of different economic status and physical exercise situation (χ2=6.606, 10.243, P=0.037, 0.001). The results of logistic regression model showed that the protective factors of qualified TCM behaviors were 60-year old and good physical exercise (OR=1.836, 2.249) and the risk factor was moderate economic status (OR=0.539). Conclusion The awareness rate of TCM health knowledge in Gongshu District was high, but the qualified rate of TCM behaviors was low. The age, economic status and physical exercise situation are the influencing factors of TCM behaviors.

Objective To explore the effects of acupuncture and individualized occupational therapy on the rehabilitation of patients with unilateral spatial neglect ( USN ) after stroke.Methods Stroke patients with hemiplegia were evaluated by neuropsychological tests,including line bisection,a cancellation test,clock drawing,and figure and shape copying.Sixty-nine right hemispheric stroke patients identified with USN were randomly assigned to 3 groups:20 patients as a control group received conventional rehabilitation therapy ; another 22 patients as an occupational group received type-specific individualized occupational therapy combined with conventional rehabilitation therapy; the remaining 23 patients as an acupuncture combined with occupational therapy group received acupuncture in addition to both conventional rehabilitation therapy and occupational therapy.These three groups were evaluated with neuropsychological tests and the modified Barthel index (MBI) before and after treatment.Results ①MBI scores in the occupational therapy group and the combined group were significantly higher after treatment,but no significant difference was observed in the control group.②The increased MBI scores in the combined and occupational groups were higher than those in the control group.At the same time the increase in MBI scores in the combined group was significantly greater than in the occupational therapy group.③The assessment results with both line bisection and cancellation tests in all three groups were significantly different after treatment.The line bisection results in the occupational therapy group and the combined group were significantly better than in the control group.The cancellation test results in the combined group were significantly better than in the control group.Conclusion These findings show that acupuncture combined with occupational therapy can have a positive effect on neglect recovery and greatly improve the daily life of USN patients.