OBJECTIVE:To explore the efficacy of different exercise regimens to reduce fall risks in older adults.METHODS:PubMed,Embase,Web of Science,The Cochrane Library,WanFang,and CNKI were searched for studies about exercise interventions on fall risk in healthy older adult individuals at the age of 60 years and above.The search timeframe should cover from the inception of each database to July 2023.Quality assessment and risk-of-bias were assessed using the Cochrane risk of bias tool.Meta-analysis,subgroup analysis,sensitivity analysis,and publication bias were conducted using Review Manager 5.3 and Stata 16.0.RESULTS:A total of 45 papers containing 54 studies with 3 074 participants were included in the analysis.Overall,exercise intervention can improve the interventional effects on balance(the unipedal stance test with eyes open,functional reach,Timed"Up & Go",and Berg balance scale),lower limb muscle strength(30-second chair-stand test,Five-Times Sit-To-Stand Test,and Short Physical Performance Battery),and fall-efficacy(Falls Efficacy Scale-International),leading to reduced fall risk(P＜0.05).The Meta-analysis results revealed a dosage effect of different exercise regimens to reduce fall risk in the elderly.Mind-body exercise could efficiently increase scores of the unipedal stance test[mean difference(MD)=6.81,95％confidence interval(CI)(2.17,11.44),P＜0.01];resistance exercise could efficiently increase the scores of the Timed"Up & Go"[MD=-3.12,95％CI(-5.72,-0.52),P＜0.05]and the 30-second chair-stand test[MD=1.22,95％CI(0.37,2.08),P＜0.01];and multicomponent physical activity could efficiently increase the scores of functional reach[MD=4.50,95％CI(2.58,6.42),P＜0.01],Berg Balance Scale[MD=1.05,95％CI(0.39,1.71),P＜0.01],Five-Times Sit-To-stand Test[MD=-3.15,95％CI(-4.80,-1.50),P＜0.01],Short Physical Performance Battery[MD=0.55,95％CI(0.37,0.74),P＜0.01],and Falls Efficacy Scale-International[MD=-0.41,95％CI(0.69,-0.13),P＜0.01].Conclusion:Exercise interventions can effectively improve balance,enhance limb strength and functional ability,and reduce fear of falling,and lower the risk of falls in older adults.The components of different intervention programs(such as type of exercise,duration,frequency,and session length)have varying dose-response relationships with the results of fall risk screening tests in older adults.

Intracranial aneurysms are a common cerebrovascular disease and the leading cause of subarachnoid hemorrhage.With the development of endovascular interventional techniques,more and more patients are being treated with stents or flow diverter.For this reason,antiplatelet therapy has become a routinely administered drug before and after endovascular interventions.This review intends to summarize the common antiplatelet drug classes,drug mechanisms,platelet function tests and clinical applications.

Paraclinoid aneurysms of the internal carotid artery are common unruptured intracranial aneurysms,which are closely related to the anterior clinoid process,dural ring and optic nerve at the base of the skull,and are classified in various ways.This article reviewed the definition,anatomical structure,and imaging interpretation of paraclinoid aneurysms,with the aim of clearly identifying the relationship between this site of aneurysm and the dural ring,so as to provide reference for optimal treatment plan.

Objective:To explore the clinical features, genetic characteristics in a child with Miller-McKusick-Malvaux syndrome (3MS) type 1 caused by CUL7 gene variant. Methods:A child diagnosed with 3MS type 1 at the Children′s Hospital Affiliated to Zhengzhou University in February 2021 was selected as the subject of this study. Peripheral blood samples were collected from the child and her parents for genomic DNA extraction. Whole exome sequencing (WES) was performed on the child, and Sanger sequencing was used to validate the candidate variants and analyze their pathogenicity. A literature search was conducted using the keywords "3M syndrome" in the China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, and PubMed databases from inception to December 2024. The clinical data of Chinese children with 3MS reported in the literature were summarized. This study was approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-020).Results:①The child was a 6-year-old and 2-month-old female with facial dysmorphism, skeletal abnormalities, and growth and developmental delay. ②WES revealed compound heterozygous variants in the CUL7 gene: c. 2686G>T (p.E896*) and c. 1200delT (p.R401Gfs66). Sanger sequencing confirmed that these two variants were inherited from the child′s father and mother, respectively. According to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants, c. 2686G>T (p.E896) was classified as a pathogenic (PVS1+ PM2_Supporting+ PM3), and c. 1200delT (p.R401Gfs*66) was classified as a likely pathogenic (PVS1+ PM2_Supporting). ③ Based on the literature search strategy, 18 relevant articles were identified, including a total of 32 Chinese cases of 3MS, of which 8 were fetuses. A total of 32 Chinese 3MS cases were included in the literature review, of which 8 were fetuses. The majority of these cases carried variants in the CUL7 gene (20/32, 62.5%) and OBSL1 gene (12/32, 37.5%). The main clinical manifestations included intrauterine or postnatal growth and developmental delay (32/32, 100.0%), triangular facies (27/32, 84.3%), and skeletal abnormalities (21/32, 65.6%). Conclusion:The compound heterozygous variants c.2686G>T (p.E896*) and c. 1200delT (p.R401Gfs*66) in the CUL7 gene are likely the genetic cause of 3MS type 1 in the child. For children presenting with facial dysmorphism, skeletal abnormalities, and intrauterine or postnatal growth and developmental delay, 3MS should be considered as a differential diagnosis.

Objective:To investigate the clinical and genetic characteristics of KDM6B gene variation associated neurological developmental disorder in a child. Methods:Clinical data were collected from a child of KDM6B gene variation associated neurological developmental disorder admitted to Children′s Hospital Affiliated to Zhengzhou University in July 2021. His clinical manifestations and genetic variation profiles were retrospectively analyzed and literature review was conducted. Results:The patient was a one-year-six-month old male, with protruding forehead, joint laxity, distal skeletal abnormalities, and behavioral, cognitive, language, intellectual, and psychomotor development disorder. The whole-exome sequencing and Sanger sequencing confirmed that there was a de novo heterozygous frameshift variation c.1718delC(p.Pro573Hisfs *9) in exon 11 of the KDM6B gene. This variation was classified as pathogenic (PVS1+PS2+PM2_supporting) according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines, with no prior reports. By literature review, no relevant Chinese literature was retrieved, whereas 4 English literatures were found, reporting 98 patients, totally 99 patients (including this case) with nervous system development disorder due to KDM6B gene variation. The main manifestations were neurodevelopmental disorders such as speech, motor, and behavioral abnormalities, mental retardation, as well as facial deformities, hypotonia, infantile feeding difficulties/gastroesophageal reflux, joint/ligament laxity, and abnormalities of the hands and toes/palms. A total of 83 variation sites were found, including 37 frameshift variations, 18 missense variations, 21 nonsense variations, and 7 splicing variations, all of which were heterozygous variations. Conclusions:The KDM6B gene variation can lead to neurodevelopmental disorder, craniofacial developmental and skeletal abnormalities. The de novo heterozygous variation in the KDM6B gene is considered to be the genetic etiology of this child. This study extends the spectrum of KDM6B gene variant.

BACKGROUND:Surface electromyography has been extensively utilized for monitoring muscle fatigue. However,traditional electromyographic metrics typically focus on individual muscles and fail to assess the variations in a muscle group during the fatigue process. OBJECTIVE:To establish a muscle functional network to extract complex network parameters and investigate the topological property changes of the muscle functional network under different levels of fatigue,aiming to provide theoretical and methodological foundations for fatigue monitoring and prevention. METHODS:Eleven participants performed single-leg leg press exercise at 50％ of one-repetition maximum until exhaustion. Simultaneously,electromyographic signals of seven muscles (rectus femoris,vastus lateralis,vastus medialis,biceps femoris,tibialis anterior,lateral gastrocnemius,and medial gastrocnemius),electrocardiographic signals,and Borg CR-10 scale scores were collected. The Borg CR-10 scale was used to categorize three fatigue stages:mild,moderate,and severe. Heart rate and heart rate variability were calculated to validate the effective division of fatigue stages. Using the coherence of muscle signals,a muscle functional network was constructed with the seven muscles as nodes,and four complex network parameters (clustering coefficient,average weighted degree,global efficiency,and eigenvector centrality) were extracted. Additionally,four electromyographic indices (root mean square,median frequency,instantaneous mean frequency,and co-activation ratio) were extracted and compared under the three levels of fatigue. RESULTS AND CONCLUSION:(1) Differences in heart rate and heart rate variability were observed across three fatigue stages,indicating the effectiveness of fatigue stage delineation. (2) Electromyographic indicators for different muscles under three levels of fatigue:root mean square and co-activation ratio showed no differences;however,median frequency exhibited robust fatigue trends in vastus lateralis,vastus medialis,and biceps femoris,while instantaneous mean frequency demonstrated robust fatigue trends in rectus femoris,vastus lateralis,vastus medialis,and biceps femoris. Instantaneous mean frequency outperformed median frequency and root mean square,yet all three indicators showed robust trends only for the major working muscle groups,unaffected by fatigue factors,unlike the co-activation ratio. (3) The connectivity strength between vastus lateralis and vastus medialis,vastus lateralis and biceps femoris,vastus lateralis and gastrocnemius medialis,and vastus medialis and biceps femoris gradually increased,showing significant differences in average weighted degree,clustering coefficient,and global efficiency post-fatigue,significantly correlated with fatigue levels. To conclude,changes in connectivity strength reflect the synergy and complementarity among muscles during fatigue. Clustering coefficient,average weighted degree,and global efficiency serve as fatigue markers reflecting overall muscle changes.

Objective:To investigate the selenium levels in hair, grain, and soil samples collected from residents in typical Keshan disease (KD) endemic and non-endemic areas of Yunnan Province and Inner Mongolia Autonomous Region (referred to as Inner Mongolia), and to provide basic data for evaluating the effectiveness of KD prevention and control strategies.Methods:In 2018, one county with a history of severe KD and one non-endemic county with a similar environment were selected from each of Yunnan Province and Inner Mongolia. Within each county, one natural village was selected as the survey site. Ten soil samples were collected from each village. Ten households were stratified based on their annual per capita income levels of low, medium, and high (3, 4, 3 households, respectively). Three samples of hair and three samples of grain were collected from each household, and selenium level was measured using hydride atomic fluorescence spectrometry.Results:A total of 118 hair samples, 125 grain samples, and 39 soil samples were collected. The selenium levels in the hair of residents from KD endemic areas were significantly lower than those from non-endemic areas within the same province ( P < 0.05), and there was no statistically significant difference in selenium levels in grain and soil ( P > 0.05). The selenium level in the hair of residents in Yunnan Province [0.36 (0.31, 0.41) mg/kg] was higher than that in Inner Mongolia [0.31 (0.25, 0.35) mg/kg, Z = - 3.87, P < 0.001]. The proportion of sufficient hair selenium levels (≥0.30 mg/kg) was 86.7% (52/60) in Yunnan Province and 55.2% (32/58) in Inner Mongolia, with a statistically significant difference (χ 2 = 14.26, P < 0.001). Selenium levels in grain and soil in Yunnan Province were lower than those in Inner Mongolia ( P < 0.001). The proportion of sufficient grain selenium levels (> 0.02 mg/kg) was 5.7% (4/70) in Yunnan Province and 12.7% (7/55) in Inner Mongolia, with a significant difference (χ 2 = 11.88, P = 0.003). The selenium levels in soil in both provinces reached the sufficient level (≥0.20 mg/kg). Conclusions:The selenium levels in the population of KD endemic areas are lower than those in non-endemic regions, and the selenium deficiency among residents in Inner Mongolia is more prominent than in Yunnan Province. The selenium levels in Inner Mongolia's grain and soil are higher than those in Yunnan Province. In the future prevention and control of KD attention should be paid to monitoring the selenium nutrition level of the population in KD areas, especially in Inner Mongolia areas located in the north.

Cerebral proliferative angiopathy(CPA)was initially regarded as a variant of arteriovenous malformation.However,its distinct histological,angiographic,and pathophysiological features have led to its reclassification as an independent entity.CPA is an exceptionally rare form of cerebral vascular malformation,its pathogenesis is primarily linked to diffuse vascular proliferation secondary to chronic hypoperfusion.Clinically,CPA presents with a heterogeneous spectrum of manifestations,most commonly severe headaches and epileptic seizures.Neuroimaging(MR)typically reveals a complex interplay of aberrant vessels within the brain parenchyma,which may complicate the clinical management and lead to a higher rate of poor prognosis.This article reviewed current knowledge on the pathogenesis,epidemiology,clinical features,diagnostic approaches,and treatment options for CPA,with the aim of enhancing understanding of its underlying mechanisms and guiding future therapeutic strategy optimizations.

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, genetic characteristics in a child with Miller-McKusick-Malvaux syndrome (3MS) type 1 caused by CUL7 gene variant. METHODS: A child diagnosed with 3MS type 1 at the Children's Hospital Affiliated to Zhengzhou University in February 2021 was selected as the subject of this study. Peripheral blood samples were collected from the child and her parents for genomic DNA extraction. Whole exome sequencing (WES) was performed on the child, and Sanger sequencing was used to validate the candidate variants and analyze their pathogenicity. A literature search was conducted using the keywords "3M syndrome" in the China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, and PubMed databases from inception to December 2024. The clinical data of Chinese children with 3MS reported in the literature were summarized. This study was approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-020). RESULTS: The child was a 6-year-old and 2-month-old female with facial dysmorphism, skeletal abnormalities, and growth and developmental delay. WES revealed compound heterozygous variants in the CUL7 gene: c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs66). Sanger sequencing confirmed that these two variants were inherited from the child's father and mother, respectively. According to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants, c.2686G>T (p.E896) was classified as a pathogenic (PVS1+PM2_Supporting+PM3), and c.1200delT (p.R401Gfs*66) was classified as a likely pathogenic (PVS1+PM2_Supporting). Based on the literature search strategy, 18 relevant articles were identified, including a total of 32 Chinese cases of 3MS, of which 8 were fetuses. A total of 32 Chinese 3MS cases were included in the literature review, of which 8 were fetuses. The majority of these cases carried variants in the CUL7 gene (20/32, 62.5%) and OBSL1 gene (12/32, 37.5%). The main clinical manifestations included intrauterine or postnatal growth and developmental delay (32/32, 100.0%), triangular facies (27/32, 84.3%), and skeletal abnormalities (21/32, 65.6%). CONCLUSION The compound heterozygous variants c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs*66) in the CUL7 gene are likely the genetic cause of 3MS type 1 in the child. For children presenting with facial dysmorphism, skeletal abnormalities, and intrauterine or postnatal growth and developmental delay, 3MS should be considered as a differential diagnosis.
Humans ; Cullin Proteins/genetics* ; Female ; Child ; Limb Deformities, Congenital/genetics* ; Exome Sequencing ; Mutation ; Child, Preschool ; Dwarfism ; Muscle Hypotonia ; Spine/abnormalities*