Objective:To explore the clinical features of a child with Lamb-Shaffer syndrome (LAMSHF) due to a variant of SOX5 gene. Methods:A child who was admitted to Children′s Hospital Affiliated to Zhengzhou University in July 2022 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing (WES) was carried out on peripheral blood samples from the child and his parents, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The study has been approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-100).Results:The child, an one-year-and-seven-month-old male, has manifested delayed development in speech and language, intelligence and movement, in addition with mild facial deformities and eye signs. Whole exome sequencing revealed that he has harbored a heterozygous c. 1828_1829insGACT (p.Y610fs*1) frameshifting variant of the SOX5 gene. Sanger sequencing confirmed the variant to be de novo in origin. The variant was also unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+ PS2+ PM2_supporting). Conclusion:The c. 1828_1829insGACT (p.Y610fs*1) variant of the SOX5 gene probably underlay the pathogenesis of LAMSHF in this child. For children with delayed mental, language, intellectual, and motor development, genetic testing should be conducted to facilitate early diagnosis. Above finding has enriched the mutational spectrum of the SOX5 gene.

The escalating phenomenon of global population aging is posing multi-dimensional challenges to society, the economy and medical healthcare system.Among the significant health threats to the elderly population are cardiovascular diseases(CVD)and cognitive frailty(CF), both of which profoundly affect the quality of life and increase the risks of adverse health outcomes, including disability, hospitalization, and death.The concurrent presence of CVD and CF in elderly patients is prevalent, as these conditions share many common risk factors and underlying pathophysiological mechanisms, such as atherosclerosis, microcirculation dysfunction, and inflammation, which interact to perpetuate a vicious cycle.Notably, CF exhibits a certain degree of reversibility; thus, the implementation of a diagnosis and treatment paradigm that incorporates "comprehensive geriatric assessment and geriatric interdisciplinary teams" should be established as a conventional management strategy for elderly patients affected by both CVD and CF.Cognitive digital therapeutics, along with personalized exercise prescriptions based on cardiopulmonary exercise tests, may represent more appropriate precision interventions for these patients.Consequently, there is a necessity for further in-depth research in this area moving forward.

Objective:To observe the effect of applying intermittent theta burst stimulation (iTBS) in the rehabilitation of preschool children with autism spectrum disorder (ASD).Methods:Seventy preschool children with ASD were randomly divided into a control group and an experimental group, each of 35. Both groups were given routine rehabilitation training, while the experimental group was additionally provided with iTBS for 4 weeks. Before and after the treatment, the children′s language comprehension and expression ability were evaluated using the language retardation test and the Autism Treatment Assessment Scale (ATEC).Results:The language comprehension and expression of the children in both groups had improved after the treatment, but the children in the experimental group then had better language comprehension and expression abilities. And they scored better on average in the language, social interaction, cognition and behavior sub-sections of the ATEC. Their average total score was also lower.Conclusions:iTBS can safely and effectively improve the language comprehension ability and expression of preschool children with ASD.

OBJECTIVE: To explore the clinical features of a child with Lamb-Shaffer syndrome (LAMSHF) due to a variant of SOX5 gene. METHODS: A child who was admitted to Children's Hospital Affiliated to Zhengzhou University in July 2022 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing (WES) was carried out on peripheral blood samples from the child and his parents, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The study has been approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-100). RESULTS: The child, an one-year-and-seven-month-old male, has manifested delayed development in speech and language, intelligence and movement, in addition with mild facial deformities and eye signs. Whole exome sequencing revealed that he has harbored a heterozygous c.1828_1829insGACT (p.Y610fs*1) frameshifting variant of the SOX5 gene. Sanger sequencing confirmed the variant to be de novo in origin. The variant was also unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_supporting). CONCLUSION The c.1828_1829insGACT (p.Y610fs*1) variant of the SOX5 gene probably underlay the pathogenesis of LAMSHF in this child. For children with delayed mental, language, intellectual, and motor development, genetic testing should be conducted to facilitate early diagnosis. Above finding has enriched the mutational spectrum of the SOX5 gene.
Humans ; SOXD Transcription Factors/genetics* ; Male ; Infant ; Exome Sequencing ; Genetic Testing ; Mutation

Objective:To explore the clinical features of a child with Lamb-Shaffer syndrome (LAMSHF) due to a variant of SOX5 gene. Methods:A child who was admitted to Children′s Hospital Affiliated to Zhengzhou University in July 2022 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing (WES) was carried out on peripheral blood samples from the child and his parents, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The study has been approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-100).Results:The child, an one-year-and-seven-month-old male, has manifested delayed development in speech and language, intelligence and movement, in addition with mild facial deformities and eye signs. Whole exome sequencing revealed that he has harbored a heterozygous c. 1828_1829insGACT (p.Y610fs*1) frameshifting variant of the SOX5 gene. Sanger sequencing confirmed the variant to be de novo in origin. The variant was also unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+ PS2+ PM2_supporting). Conclusion:The c. 1828_1829insGACT (p.Y610fs*1) variant of the SOX5 gene probably underlay the pathogenesis of LAMSHF in this child. For children with delayed mental, language, intellectual, and motor development, genetic testing should be conducted to facilitate early diagnosis. Above finding has enriched the mutational spectrum of the SOX5 gene.

The escalating phenomenon of global population aging is posing multi-dimensional challenges to society, the economy and medical healthcare system.Among the significant health threats to the elderly population are cardiovascular diseases(CVD)and cognitive frailty(CF), both of which profoundly affect the quality of life and increase the risks of adverse health outcomes, including disability, hospitalization, and death.The concurrent presence of CVD and CF in elderly patients is prevalent, as these conditions share many common risk factors and underlying pathophysiological mechanisms, such as atherosclerosis, microcirculation dysfunction, and inflammation, which interact to perpetuate a vicious cycle.Notably, CF exhibits a certain degree of reversibility; thus, the implementation of a diagnosis and treatment paradigm that incorporates "comprehensive geriatric assessment and geriatric interdisciplinary teams" should be established as a conventional management strategy for elderly patients affected by both CVD and CF.Cognitive digital therapeutics, along with personalized exercise prescriptions based on cardiopulmonary exercise tests, may represent more appropriate precision interventions for these patients.Consequently, there is a necessity for further in-depth research in this area moving forward.

Objective:To observe the effect of applying intermittent theta burst stimulation (iTBS) in the rehabilitation of preschool children with autism spectrum disorder (ASD).Methods:Seventy preschool children with ASD were randomly divided into a control group and an experimental group, each of 35. Both groups were given routine rehabilitation training, while the experimental group was additionally provided with iTBS for 4 weeks. Before and after the treatment, the children′s language comprehension and expression ability were evaluated using the language retardation test and the Autism Treatment Assessment Scale (ATEC).Results:The language comprehension and expression of the children in both groups had improved after the treatment, but the children in the experimental group then had better language comprehension and expression abilities. And they scored better on average in the language, social interaction, cognition and behavior sub-sections of the ATEC. Their average total score was also lower.Conclusions:iTBS can safely and effectively improve the language comprehension ability and expression of preschool children with ASD.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree with suspected mitochondrial functional defects through combined next-generation sequencing (NGS), copy number variation sequencing (CNV-seq), and mitochondrial DNA (mtDNA) sequencing. METHODS: Clinical data of the proband and his family members were collected. The patient and his parents were subjected to family-trio whole-exome sequencing (WES), CNV-seq and mtDNA variant detection. Candidate variant was verified by Sanger sequencing. RESULTS: Trio-WES revealed that the proband has carried compound heterozygous variants of the NDUFS1 gene, including a paternally derived c.64C>T (p.R22X) nonsense variant and a maternally derived c.845A>G (p.N282S) missense variant. Both variants may cause loss of protein function. No variant that may cause the phenotype was identified by CNV-seq and mtDNA variant analysis. CONCLUSION Children with suspected mitochondrial disorders may have no specific syndromes or laboratory findings. A comprehensive strategy including mtDNA testing may facilitate the diagnosis and early clinical interventions.
Child ; China ; DNA Copy Number Variations ; Electron Transport ; Humans ; Mutation ; NADH Dehydrogenase/genetics* ; Pedigree

Objective To observe the levels of ethical decision-making ability and emotion control, so as to explore the correlation between them. Methods A total of 280 clinical nurses were selected from Qingdao Cancer Hospital by convenience sampling method in April 2017. Judgment About Nursing Decision (JAND) Scale and the Courtauld Emotion Control Scale (CECS) were applied to assess nurses' nursing ethical decision-making and emotion control level. Pearson correlation analysis and multiple linear regression were used to analyze the influencing factors of nursing ethical decision-making ability of clinical nurses. Results In this study, the JAND score was (264.66±14.57), at a moderate level; CECS score was (49.93±16.52), at an upper level. Pearson correlation analysis showed that JAND and CECS were negatively correlated (r=-0.185, P＜ 0.01). Univariate analysis showed that there were significant differences in nursing ethical decision-making ability among clinical nurses with different nursing age, educational background, professional title, employment style and relevant training (χ2=36.419, 66.901, 74.415, 27.053, 89.464; P＜ 0.05). Multiple linear regression analysis showed nursing age, profession title and relevant training were influencing factors for ethical decision-making ability in clinical nurses (P＜ 0.01). Conclusions The levels of ethical decision-making ability and emotion control in clinical nurses need to be improved. The nurses with longer nursing age, higher profession title and who have received relevant training, have stronger ethical decision-making ability.

Exercise is one of the important techniques of cardiovascular rehabilitation. Exercise can reduce inflammatory response to improve endothelial function, and improve mitochondrial function to increase myocardial cell activity. For cardiovascular risk factors, exer-cise can promote the activity of lipoprotein, increase the level of high-density lipoprotein;improve the function of insulin receptor to reduce insulin resistance, reduce platelet aggregation and improve endothelial function to reduce blood pressure. For the respiratory system, aerobic exercise can improve the function of respiratory muscle, thus relieve the dyspnea. Exercise can promote the activation of immune factor and increase metabolism, to increase immune function and anti-aging. Resistance exercise can improve mitochondrial function and promote fi-ber type conversion, to improve the function of skeletal muscle system.