Objective:To explore the genotype-phenotype relationship in a child with Opitz G/BBB syndrome (OS) with mild clinical phenotype.Methods:A child with motor developmental delay as the initial symptom admitted to Xi ′an Children′s Hospital on June 10, 2021 was selected for this study. Clinical data were collected, and peripheral blood samples were obtained from the child and his mother. Whole exome sequencing (WES) was performed to identify genetic variant in the child. Candidate variant were verified by Sanger sequencing to assess inheritance patterns and pathogenicity. Real-time fluorescence quantitative PCR (RT-qPCR) and Western blot (WB) analyses were conducted to evaluate the effects of the variant on mRNA and protein expression, respectively, using recombinant expression plasmids generated in vitro. This study was approved by the Medical Ethics Committee of Xi′an Children′s Hospital (Ethics No. 20240045).Results:① The child, a 9-month-and-7-day-old boy, presented with a low nasal bridge, hypertelorism, and difficulty sitting independently. Echocardiography revealed an atrial septal defect. ② WES identified a homozygous variant in the MIDI gene, c. 1483C>T (p.R495X), which was confirmed by Sanger sequencing and found to be inherited from the mother.③ Recombinant expression plasmids were successfully constructed. RT-qPCR analysis showed that the variant significantly reduced MIDI gene mRNA expression, while WB results indicated that the variant led to the production of a truncated protein. Conclusion:The mild clinical phenotype of OS in this child may be attributed to the mRNA degradation escape mechanism induced by the nonsense variant c. 1483C>T(p.R495X) in the MIDI gene. These findings provide valuable diagnostic insights for this pedigree and contribute to the understanding of the genotype-phenotype correlation in OS.

OBJECTIVE: To explore the genotype-phenotype relationship in a child with Opitz G/BBB syndrome (OS) with mild clinical phenotype. METHODS: A child with motor developmental delay as the initial symptom admitted to Xi'an Children's Hospital on June 10, 2021 was selected for this study. Clinical data were collected, and peripheral blood samples were obtained from the child and his mother. Whole exome sequencing (WES) was performed to identify genetic variant in the child. Candidate variant were verified by Sanger sequencing to assess inheritance patterns and pathogenicity. Real-time fluorescence quantitative PCR (RT-qPCR) and Western blot (WB) analyses were conducted to evaluate the effects of the variant on mRNA and protein expression, respectively, using recombinant expression plasmids generated in vitro. This study was approved by the Medical Ethics Committee of Xi'an Children's Hospital (Ethics No. 20240045). RESULTS: The child, a 9-month-and-7-day-old boy, presented with a low nasal bridge, hypertelorism, and difficulty sitting independently. Echocardiography revealed an atrial septal defect. WES identified a homozygous variant in the MIDI gene, c.1483C>T (p.R495X), which was confirmed by Sanger sequencing and found to be inherited from the mother.Recombinant expression plasmids were successfully constructed. RT-qPCR analysis showed that the variant significantly reduced MIDI gene mRNA expression, while WB results indicated that the variant led to the production of a truncated protein. CONCLUSION The mild clinical phenotype of OS in this child may be attributed to the mRNA degradation escape mechanism induced by the nonsense variant c.1483C>T (p.R495X) in the MIDI gene. These findings provide valuable diagnostic insights for this pedigree and contribute to the understanding of the genotype-phenotype correlation in OS.
Humans ; Male ; Infant ; Transcription Factors/metabolism* ; Microtubule Proteins/genetics* ; Craniosynostoses/genetics* ; Hypospadias/genetics* ; Codon, Nonsense/genetics* ; RNA, Messenger/metabolism* ; Female ; RNA Stability/genetics* ; Phenotype ; Nuclear Proteins/genetics* ; Ubiquitin-Protein Ligases ; Esophagus/abnormalities* ; Hypertelorism

This study investigated the effect of small RNA ncBCG201 on the stress adaptation and intracellular survival of Myco-bacterium bovis.Differentially expressed ncRNAs were screened with RNA-seq after BCG infection of THP-1 macrophages.The ncBCG201 overexpression strain was constructed,and its stress survival,growth,biofilm formation,and intracellular survival were assessed.The ncBCG201 strain showed slower growth and earlier entry into stationary phase.Survival significantly increased under car-bon starvation but decreased under membrane pressure.Biofilm formation capability decreased.Intracellular survival in THP-1 macro-phages at 24 h and 48 h was significantly higher than observed in the control.Therefore,ncBCG204 enhances BCG survival within macrophages by modulating stress adaptability.

Objective To systematically evaluate the factors that promote and hinder exercise in frail older adults,and to provide references for the formulation of exercise intervention programs.Methods We searched PubMed,Web of Science,Embase,CINAHL,Cochrane library,CNKI,Wanfang,VIP database,and China Biomedical Literature Database for qualitative studies on exercise facilitators and hindrances in frail older adults,and the search time period was from the establishment of the databases to September 1,2024.The quality of the literature was evaluated using the Joanna Brigg Institute Australian Centre for Evidence-Based Health Care Quality Assessment Criteria for Qualitative Research(2016),and the results were integrated by integrating methods.Results A total of 18 studies were included,and 72 research results were extracted,and 10 categories were summarized.The final synthesis included 2 integrated results:the facilitators included personal exercise motivation,physical and psychological benefits,positive interpersonal interactions,multiple social support systems and person-centred exercise programme;the impediments included underlying diseases and somatic functional limitations,negative psychological status,low health literacy,family role conflicts and limits of the environment.Conclusion Exercise for frail older adults is affected by a variety of factors.Healthcare professionals should improve the positive perception of exercise for frail older people and help them overcome psychological barriers;establish an all-round support system to enhance the sense of social contact of the frail elderly;formulate a personalised exercise programme with a human-centred approach to enhance the motivation of the frail elderly.

Objective To systematically evaluate the factors that promote and hinder exercise in frail older adults,and to provide references for the formulation of exercise intervention programs.Methods We searched PubMed,Web of Science,Embase,CINAHL,Cochrane library,CNKI,Wanfang,VIP database,and China Biomedical Literature Database for qualitative studies on exercise facilitators and hindrances in frail older adults,and the search time period was from the establishment of the databases to September 1,2024.The quality of the literature was evaluated using the Joanna Brigg Institute Australian Centre for Evidence-Based Health Care Quality Assessment Criteria for Qualitative Research(2016),and the results were integrated by integrating methods.Results A total of 18 studies were included,and 72 research results were extracted,and 10 categories were summarized.The final synthesis included 2 integrated results:the facilitators included personal exercise motivation,physical and psychological benefits,positive interpersonal interactions,multiple social support systems and person-centred exercise programme;the impediments included underlying diseases and somatic functional limitations,negative psychological status,low health literacy,family role conflicts and limits of the environment.Conclusion Exercise for frail older adults is affected by a variety of factors.Healthcare professionals should improve the positive perception of exercise for frail older people and help them overcome psychological barriers;establish an all-round support system to enhance the sense of social contact of the frail elderly;formulate a personalised exercise programme with a human-centred approach to enhance the motivation of the frail elderly.

This study investigated the effect of small RNA ncBCG201 on the stress adaptation and intracellular survival of Myco-bacterium bovis.Differentially expressed ncRNAs were screened with RNA-seq after BCG infection of THP-1 macrophages.The ncBCG201 overexpression strain was constructed,and its stress survival,growth,biofilm formation,and intracellular survival were assessed.The ncBCG201 strain showed slower growth and earlier entry into stationary phase.Survival significantly increased under car-bon starvation but decreased under membrane pressure.Biofilm formation capability decreased.Intracellular survival in THP-1 macro-phages at 24 h and 48 h was significantly higher than observed in the control.Therefore,ncBCG204 enhances BCG survival within macrophages by modulating stress adaptability.

Objective:To explore the genotype-phenotype relationship in a child with Opitz G/BBB syndrome (OS) with mild clinical phenotype.Methods:A child with motor developmental delay as the initial symptom admitted to Xi ′an Children′s Hospital on June 10, 2021 was selected for this study. Clinical data were collected, and peripheral blood samples were obtained from the child and his mother. Whole exome sequencing (WES) was performed to identify genetic variant in the child. Candidate variant were verified by Sanger sequencing to assess inheritance patterns and pathogenicity. Real-time fluorescence quantitative PCR (RT-qPCR) and Western blot (WB) analyses were conducted to evaluate the effects of the variant on mRNA and protein expression, respectively, using recombinant expression plasmids generated in vitro. This study was approved by the Medical Ethics Committee of Xi′an Children′s Hospital (Ethics No. 20240045).Results:① The child, a 9-month-and-7-day-old boy, presented with a low nasal bridge, hypertelorism, and difficulty sitting independently. Echocardiography revealed an atrial septal defect. ② WES identified a homozygous variant in the MIDI gene, c. 1483C>T (p.R495X), which was confirmed by Sanger sequencing and found to be inherited from the mother.③ Recombinant expression plasmids were successfully constructed. RT-qPCR analysis showed that the variant significantly reduced MIDI gene mRNA expression, while WB results indicated that the variant led to the production of a truncated protein. Conclusion:The mild clinical phenotype of OS in this child may be attributed to the mRNA degradation escape mechanism induced by the nonsense variant c. 1483C>T(p.R495X) in the MIDI gene. These findings provide valuable diagnostic insights for this pedigree and contribute to the understanding of the genotype-phenotype correlation in OS.

Objective:To report five families of familial periodic paralysis.Methods:The clinical and genetic data of 5 families with familial periodic paralysis caused by SCN4A gene mutation who visited the First Affiliated Hospital of Henan University of Science and Technology from 2017 to 2022 were analyzed retrospectively.Results:The probands carried heterozygous missense mutations of SCN4A gene c. 3395G>A p. Arg1132Gln (Case 1), c. 2015G>A p. Arg672His (Case 2 and case 3), c. 2006G>A p. Arg669His (Case 4), c. 2111C>T p. Thr704Met (Case 5), respectively. Among them, four probands were diagnosed as hypokalemic periodic paralysis, one patient considered normal blood potassium periodic paralysis, and the treatment of acute attack was mainly potassium supplement. The main treatment for acute attacks was potassium supplementation, which was administered through intravenous infusion of potassium chloride combined with oral potassium chloride sustained-release tablets in the hospital. Simultaneously blood potassium levels and electrocardiogram monitoring were closely monitored. The main approach outside the hospital was to adopt a reasonable lifestyle and avoid triggering factors.Conclusions:The clinical manifestations caused by SCN4A gene mutation are diverse, and special attention should be paid in diagnosis, treatment and genetic counseling. Gene sequencing is an important molecular genetic diagnostic method.

In order to solve the problems that the universal screwdriver of loaner medical instruments cannot be disassembled during cleaning and the backwash rate,the structure of the universal screw driver for loaner medical instruments was improved.By removing the protrusion at the end of the of the screwdriver,the inner core and outer sheath of the screwdriver could be separated,enabling the screwdriver to be disassembled for cleaning.The cleaning pass rate of the universal screwdriver with improved structure was significantly higher than that of the control group,the difference was statistically significant(x2=529.343,P<0.001).The improved structure of the universal screwdriver can effectively improve the cleaning quality of the universal screwdriver and ensure the safety of the patient's surgery.