Objective: To systematically evaluate the influencing factors for autism spectrum disorder (ASD) in Chinese children, so as to provide the evidence for risk prediction and intervention of ASD. Methods: The publications pertaining to the influencing factors for ASD in Chinese children were retrieved from CNKI, Wanfang Data, VIP, PubMed and Embase database from inception to August 2024. A meta-analysis was performed using R package version 4.4.1. Sensitivity analysis was performed using the "leave-one-out" evaluation procedure. Publication bias was assessed using Egger regression test. Results: A total of 38 high-quality articles out of 9 015 articles were finally included, covering 149 607 individuals, with 5 974 cases of ASD. The meta-analysis showed that demographic factors including family history of related diseases (OR=14.958), maternal age of ≥35 years (OR=2.287) and parental history of hazardous occupations (OR=3.511); pregnancy-related factors including history of abortion (OR=5.832), no folate supplementation before and during pregnancy (OR=4.566), tobacco exposure before and during pregnancy (OR=2.596), history of other adverse exposures before and during pregnancy (OR=3.533), history of infectious diseases during pregnancy (OR=3.753), history of non-infectious diseases during pregnancy (OR=2.563), psychological problems during pregnancy (OR=3.864), history of medication during pregnancy (OR=6.651), adverse environmental exposures during pregnancy (OR=3.754), severe pregnancy reactions (OR=5.082), abnormal perinatal period (OR=2.987), cesarean delivery (OR=1.659), other perinatal adverse factors (OR=3.856), history of neonatal asphyxia (OR=2.792) and neonatal jaundice (OR=3.687); parenting factors including non-exclusive breastfeeding (OR=2.510), early/excessive screen exposure (OR=3.589) and feeding problems (OR=3.113); and individual factors including being male (OR=3.333) and history of convulsions/epilepsy (OR=7.035) were influencing factors for ASD in Chinese children. Conclusions The prevalence of ASD in Chinese children is primarily associated with 23 influencing factors, including family history of related diseases, history of abortion, no folate supplementation before and during pregnancy, medication during pregnancy, early/excessive screen exposure and history of convulsions/epilepsy.

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female ; Animals ; Mice ; Humans ; Child, Preschool ; Intellectual Disability/genetics* ; Heart Defects, Congenital/genetics* ; Facies ; Cleft Palate ; Muscle Hypotonia

BACKGROUND:Bone marrow mesenchymal stem cells have been widely used to treat neurological diseases.However,due to limitations of the blood-brain barrier,low survival rate and differentiation rate of stem cells at damaged sites,the therapeutic effect is limited. OBJECTIVE:To investigate the effects of Shexiang Huangqi compound dripping pills on proliferation,migration and astrocyte differentiation of bone marrow mesenchymal stem cells. METHODS:Male SD rats were treated with Shexiang Huangqi compound dripping pills for 5 days after continuous gavage.Blood was collected from the abdominal aorta and serum was separated for later use.The effect of 5%,10%and 20%drug-containing serum on the proliferation of bone marrow mesenchymal stem cells was detected by CCK-8 assay.The effect of 10%drug-containing serum on lateral migration of bone marrow mesenchymal stem cells was observed by scratch test.Bone marrow mesenchymal stem cells were cultured in Transwell cells.The effects of 10%drug-containing serum on longitudinal migration of bone marrow mesenchymal stem cells were observed by crystal violet staining and DAPI nuclear staining.Differentiation of bone marrow mesenchymal stem cells into astrocytes was observed by inducing solution with 10%drug-containing serum or co-culture with astrocytes. RESULTS AND CONCLUSION:(1)10%and 20%drug-containing serum promoted cell proliferation more significantly on days 2 and 3,and there was no statistical difference between the two concentrations.(2)At 30 and 48 hours,bone marrow mesenchymal stem cell migration in 10%drug-containing serum group was significantly higher than that in the control group.(3)The number of bone marrow mesenchymal stem cells filtered through Transwell cells in 10%drug-containing serum group was higher than that in the control group.(4)10%drug-containing serum might promote the differentiation of bone marrow mesenchymal stem cells to astrocytes,but the differentiation effect was weak,and astrocytes might further promote the differentiation of bone marrow mesenchymal stem cells into astrocytes induced by drug-containing serum.(5)The results exhibited that the 10%drug-containing serum could promote the proliferation and migration of bone marrow mesenchymal stem cells in vitro.Co-culture with astrocytes may promote the differentiation of bone marrow mesenchymal stem cells towards astrocytes.

Objective To illuminate the benefit finding experience of maintenance hemodialysis patients,and to provide a reference for promoting their mental health.Methods From March to May 2023,the purposive sampling was used to select 13 maintenance hemodialysis patients in a tertiary hospital in Shanghai for semi-structured interviews.The data were organized with the help of Nvivo software,and the Colaizzi's seven-step method was used to analyze the data.Results 3 themes were extracted:①the search of meaning,including approved hemodialysis,the desire to live;②gaining a sense of mastery,including adjusting self-psychology,developing healthy living habits,and learning hemodialysis related behavior management;(3)self-enhancement,including excavating external resources and affirming self-worth.Conclusion Maintenance hemodialysis patients have benefit finding experience in many aspects.Medical staff can guide patients to carry out positive psychological construction by strengthening disease knowledge education,building a psychological mutual assistance platform,forming a multidisciplinary nursing team,excavate and provide effective social support resources,and cultivate patients'self-health management,so as to improve the level and ability of benefit finding of patients,experience positive incentives,promote physical and mental health,and improve the quality of life of hemodialysis patients.

Objective To investigate the correlation between the anatomical structure of patent foramen ovale(PFO)observed by transesophageal echocardiography(TEE)and the right to left shunt(RLS)grade of contrast-enhanced transthoracic echocardiography(c-TTE).Methods Ninety cases in which the presence of PFO was suggested by TEE examination as a diagnostic criterion from November 2021 to December 2022 in the First Hospital of Nanchang were retrospectively analysed.According to the c-TTE results of patients,the RLS was divided into 4 levels,and the correlation between PFO structural characteristics and RLS grading was analyzed.Results There was a positive correlation between PFO diameter size and RLS grading in resting state(r=0.381,P<0.05);The PFO diameter of patients with hypermobile interatrial septum(HIS)was larger and the difference was statistically significant(P<0.05);The PFO diameter of patients with persistent RLS was larger than that of excited phase patients,and the difference was statistically significant(P<0.05);There was no significant difference in RLS shunt degree between patients with long tunnel and those without long tunnel;There was no significant difference in RLS grade and PFO diameter size under Valsalva state.Conclusion Research has shown that certain anatomical structures of PFO interact with RLS grading,and PFO anatomical structures can also interact with each other(the opening diameter of the foramen ovale with HIS is larger);At the same time,TEE can clearly show the morphological characteristics of PFO and predict the degree of RLS,so as to further evaluate the possibility of ischemic stroke in patients with PFO,and provide more evidence for the indications for foramen ovale closure.

【Objective】 To explore the effect of health education intervention measures on improving parents′ perception of their children′s weight, so as to provide scientific basis for intervention in preschool obese children. 【Methods】 Children from 7 kindergartens in Luohu district were randomly selected in this study in October 2020, and were divided into intervention group and control group. The intervention group consisted of 1 318 children and parents from 3 kindergartens, and the control group consisted of 1 546 children and parents from 4 kindergartens. Parents in the intervention group received combination of online and offline health education intervention measures for 2 months, while parents in the control group received no intervention measures. Logistic regression analysis was used to evaluate the effect of parents′ perception of their children′s weight in intervention group and control group. 【Results】 After controlling for imbalanced variables such as parents′ education level, total monthly family income, and parents′ perception of their children′s weight, there was a statistically significant difference in the improvement of parents′ perception of their children′s weight status between two groups after intervention(OR=2.175, 95%CI: 1.536 - 3.080, P<0.05). After intervention, the improvement of parents′ perception of boys′ weight status in intervention group was better than that in control group(OR=2.985, 95%CI: 1.878 - 4.745, P<0.05). There was no statistically significant difference in the degree of improvement in perceived weight status among girls′ parents after intervention(P>0.05). Regardless of whether the child′s weight status was normal or not, parents in the intervention group showed better improvement in their perception of their children′s weight status than the control group(OR=1.558, 6.111, 95%CI:1.025 - 2.368, 2.811 - 13.287, P<0.05). 【Conclusion】 Health education measures can improve the perception bias of parents towards their preschool children′s weight, and the intervention effect varies among children of different genders and weight states.

【Objective】 To review the scientific research advances in the field of preschool children′s nutrition from 2012 to 2022, in order to provide reference for relevant policy formulation and further scientific exploration in this area. 【Methods】 High-quality literature published both domestically and internationally between 2012 and 2022 was retrieved through Web of Science (WOS) and China National Knowledge Infrastructure (CNKI) database. Excel and CiteSpace software were applied to visualize the research hotspots and frontier trends. 【Results】 A total of 1 816 English articles and 110 Chinese articles were included in the analysis. The cooperation network density of research institutions and authors was found to be low. Excluding the search terms, the top three English keywords were vitamin A (0.74), intervention (0.67), obesity prevention (0.55); the top three Chinese keywords were "anemia" (0.41), "obesity" (0.38), and "nutritional status" (0.18). In Chinese and English clusters, "anemia" and "physical activity" ranked first, respectively. The latest burst words identified were "dietary pattern" and "diet quality". 【Conclusions】 The number of English literature published in the field of preschool children′s nutrition is increasing, but it has shown a downward trend in the past three years in China. There are few studies in this field in China. The research hotspots primarily focus on the nutritional status of preschool children, with less attention paid to intervention research and methodological exploration. Further research in the field of preschool children′s nutrition in China may need to focus on the external determinants of preschool children′s nutrition, such as parental education, diet and food supply.

Objective:To understand the awareness and influencing factors of core information on tuberculosis prevention and control in the elderly population in China.Methods:The study included all participants aged ≥60 from the "13 th Five-Year" National Tuberculosis Control Plan end-term assessment in 2020, with 13 706 valid questionnaires obtained. Multivariate logistic regression was used to analyze the influencing factors of the awareness rate of core information on tuberculosis prevention and control in the elderly. Results:The total awareness rate of core information on tuberculosis prevention and control in the elderly aged ≥60 was 78.4%, with the highest for "suspicious symptoms of pulmonary tuberculosis" (85.4%) and the lowest for "whether pulmonary tuberculosis can be cured" (65.3%). The complete awareness rate of core information on tuberculosis prevention and control in the elderly was 41.3%, and the proportion of those who received tuberculosis health education is 67.6%. Multivariate logistic regression analysis results showed that factors associated with low awareness of core information included females ( OR=0.93, 95% CI: 0.86-1.00), ages 70- ( OR=0.91, 95% CI: 0.84-0.98) and ≥80 ( OR=0.77, 95% CI: 0.68-0.87) and minority ethnicity ( OR=0.85, 95% CI: 0.74-0.99). Factors associated with high awareness of core information included educational levels of junior high school ( OR=1.46, 95% CI: 1.34-1.58), high school ( OR=1.62, 95% CI: 1.45-1.81), junior college ( OR=1.37, 95% CI: 1.11-1.68), and an undergraduate degree or higher ( OR=1.52, 95% CI: 1.09-2.11), and receiving tuberculosis health education ( OR=2.13, 95% CI: 1.97-2.27). Conclusions:In 2020, the awareness rate of core information on tuberculosis prevention and control in Chinese older adults aged ≥60 was lower than the national planning target. Therefore, there should be an increased focus on health education about tuberculosis for elderly females, those aged ≥70, ethnic minorities, and those with lower education levels.

Objective:To investigate the correlations between the bone mineral densities and biomechanical properties on different layers of the cancellous bone in the proximal tibia.Methods:Quantitative CT was conducted of the 15 specimens of adult male tibia. Based on the artificial destruction levels at the trabecular bone on the tibial plateau, the 15 specimens were randomly divided into 3 groups ( n=5): group A (cancellous bone on the 1.5 cm layer below the articular cartilage), group B (cancellous bone on the 3.0 cm layer under the articular cartilage) and group C (cancellous bone on the 0 to 3 cm range of the subchondral bone). After standing positions were simulated in the 3 sets of specimens, they were connected to a biomechanical testing machine. Twenty-four sites were selected and subjected to a vertical load of 600 N. Strain values and overall displacement values of the specimens were recorded before and after trabecular bone destruction. The correlations were analyzed between bone density and displacement values in groups A and B. The strain values before and after trabecular bone destruction, as well as the overall deformation values of the specimens were compared between the 3 groups. Results:The bone densities of specimens in groups A and B were negatively correlated with the displacement values before and after destruction ( P<0.05). Comparisons of strain values at the 24 sites before and after trabecular bone destruction within 3 groups: There were statistically significant differences in the strain values at 8 sites between before and after trabecular bone destruction in group A ( P<0.05). Of the 8 sites, 6 showed increased strains which were mainly concentrated around the insertion point of the anterior cruciate ligament and the medial tibial plateau. There were statistically significant differences in the strain values between before and after trabecular bone destruction at 3 sites in group B ( P<0.05). The strains at all the 3 sites increased, mainly concentrated behind the surface below the level of destruction. There were statistically significant differences in the strain values at 10 sites in group C between before and after trabecular bone destruction ( P<0.05). Of the 10 sites, 5 showed a decrease in the strain which was concentrated above the destruction plane, and 5 showed an increase in the strain which was concentrated below the destruction plane. The overall deformation values of the specimens in groups A, B, and C were (0.033±0.003) mm, (0.015±0.003) mm, and (0.066±0.007) mm, respectively, showing statistically significant differences between the 3 groups ( P<0.05) as well as between any 2 groups ( P<0.05). Conclusions:Bone mineral density in the cancellous bone of the proximal tibia has some value in assessment of the bone strength. Destruction of the proximal tibial cancellous bone can significantly change the strain distribution on the proximal tibia. The proximal cancellous bone of the tibia plays a key role in stress support and load conduction.

Objective To investigate the role of histone H4 in the polarization of alveolar macrophages (AM) in lipopolysaccharide (LPS)-induced acute respiratory distress syndrome (ARDS) in mice. Methods i) The specific pathogen free male C57BL/6 mice were randomly divided into control group and 2, 4, 6 and 8 mg/kg LPS groups, with six mice in each group. The mice in the LPS groups were intratracheally administered LPS according to their respective doses, while the mice in the control group received an equivalent volume of 0.9% saline. After 12 hours, the arterial blood gas was analyzed, and the pulmonary edema and histopathological changes in lung tissues of mice in each group were observed. The level of histone H4 in bronchoalveolar lavage fluid (BALF) of mice was detected using enzyme-linked immunosorbent assay , and mice AMs of the five group were isolated using adherent method. ii) AMs from normal mice were isolated using adherent method and randomly divided into control group, histone H4 injury group, BALF injury group and anti-histone H4 antibody (anti-H4) intervention group. In the histone H4 injury group, AMs were treated with histone H4 at a final concentration of 20 mg/L. In the BALF injury group and anti-H4 intervention group, AMs were treated with 200 μL BALF supernatant from mice intratracheally administered 6 mg/kg body weight LPS, with the latter group treated with 25 mg/L anti-H4 antibody. The control group AMs were treated with phosphate-buffered saline. iii) After 12 hours of stimulation, the cells were collected, and the relative expression of tumor necrosis factor-α (Tnfa), interleukin-1β (Il1b), differentiation antigen 206 (Cd206) and arginase 1 (Arg1) in AMs was detected using real-time quantitative polymerase chain reaction. Results i) Compared with the control group, mice in all four LPS groups exhibited rapid breathing, inflammatory reaction and lung edema in lung tissues, which were aggravated in a dose-dependent manner. The ratio of partial pressure of arterial oxygen to fraction of inspired oxygen in mice decreased with the increase of LPS dose (P<0.05). The wet/dry weight ratio of lung, the level of histone H4 in BALF and the relative expression of Tnfa and Il1b mRNA in AMs increased with the increase of LPS dose (all P<0.05). The mice in the 6 and 8 mg/kg LPS groups developed ARDS. The level of histone H4 in BALF and the relative expression of Tnfa and Il1b mRNA in AMs of mice in 6 and 8 mg/kg LPS groups were higher than those in the other three groups (all P<0.05). ii) The relative expression of Tnfa and Il1b mRNA increased (both P<0.05), and the relative expression of Cd206 and Arg1 mRNA decreased (both P<0.05) in AMs of histone H4 injury group and BALF injury group compared with the control group. Compared with BALF injury group, the relative mRNA expression of Tnfa and Il1b in AMs of anti-H4 intervention group decreased (both P<0.05), while the relative expression of Arg1 mRNA increased (P<0.05). Conclusion LPS can induce a dose-dependent increase in histone H4 levels in BALF in mice. Histone H4 drives the development of ARDS by activating AMs to M1 polarization. Antagonizing histone H4 to interfere with AM polarization to M1 could be a target for the treatment of ARDS.