Objective To investigate the sleep status in children with autism spectrum disorder (ASD) and its relationship with executive function and neurodevelopment. Methods The medical records of 346 children with ASD in the hospital from April 2023 to January 2025 were retrospectively collected. The sleep status of children was investigated by Children’ s Sleep Habits Questionnaire (CSHQ). According to the score, the children were divided into good sleep group (CSHQ score<41 points, 189 cases) and sleep disorder group (CSHQ score≥41 points, 157 cases). The general data were compared between groups of children. Chinese version of Behavior Rating Inventory of Executive Function-Preschool Version (BRIEF-P) and developmental behavior assessment scale of children aged 0-6 years (Children's psychological scale-II) were used to analyze the relationship between sleep status and executive function and neurodevelopment in children with ASD. Results The CSHQ score of 346 children was (39.08±3.24) points, including 157 cases with CSHQ score≥41 points and 189 cases with CSHQ score<41 points. The proportion of severe previous medical history and executive function score in sleep disorder group were significantly higher than those in good sleep group, and the evaluation result of developmental quotient was lower than that in good sleep group (P<0.05). Logistic regression analysis showed that executive ability and neurodevelopment were closely related to sleep status in children with ASD (P<0.05). Spearman correlation analysis showed that sleep status in children with ASD was negatively correlated with executive function (r=-0.456, P<0.05), and was positively correlated with the developmental quotient (r=0.547, P<0.05). Conclusion The incidence rate of sleep disorder is high in children with ASD, and sleep status is closely related to executive function and neurodevelopment. Clinically, it is necessary to pay attention to the sleep problems in children with ASD, and take effective intervention measures to improve the sleep quality of children and promote the training of executive function and neurodevelopment.

OBJECTIVE: To summarize the clinical features and management of two brothers affected with X-linked inhibitor of apoptosis protein (XIAP) deficiency. METHODS: This study retrospectively analyzed the clinical presentations, treatment, and follow-up of two brothers with XIAP deficiency diagnosed at Shanghai Children's Hospital in 2020, and summarized similar cases recorded in databases such as PubMed, Wanfang, Chinese Medical Association Journals, and WIP from January 2006 to November 2024. This study was approved by the Medical Ethics Committee of our hospital (Ethics No.: 2025R128-E01). RESULTS: Patient 1 was the younger brother, who presented at 8 years of age with growth retardation, folliculitis, erythema nodosum, and perineal abscess. Sequencing revealed that he has carried a hemizygous c.566T>C (p.Leu189Pro) variant of the XIAP gene, which was inherited from his mother. He was allergic to infliximab treatment and underwent allogeneic stem cell transplantation (HSCT) in January 2021. During a follow-up of 3 years and 10 months post-transplantation, he showed no gastrointestinal symptoms and had a good outcome. Patient 2 was the elder brother, who presented at 10 years and 6 months of age with growth retardation, rash, and anal fistula. Genetic testing revealed the same variant. He was treated with oral azathioprine but did not have regular follow-ups. At 14-years-and-6-months of age, he had developed severe gastrointestinal infection and hemophagocytic lymphohistiocytosis, which was alleviated after treatment with antibiotics, glucocorticoids, immunoglobulin, and rituximab. He is currently being prepared for HSCT. A total of 13 publications were retrieved, which involved 64 patients from 23 families, with 23 different variants identified. The main clinical manifestations included splenomegaly (34 cases, 53.1%), hemophagocytic lymphohistiocytosis (27 cases, 42.2%), and inflammatory bowel disease or colitis (20 cases, 31.8%). There were significant phenotypic differences among patients from the same family. Thirteen patients (20.3%) underwent HSCT, with a survival rate of 61.5%. CONCLUSION For male children with early onset, poor treatment response, especially those with unexplained splenomegaly and IBD-like symptoms, early genetic testing is recommended. HSCT is a safe and effective treatment for XIAP deficiency. For patients with developmental delay, early onset, and severe IBD phenotype, early transplantation is recommended.
Humans ; Male ; X-Linked Inhibitor of Apoptosis Protein/deficiency* ; Child ; Genetic Diseases, X-Linked/therapy* ; Phenotype ; Siblings ; Retrospective Studies ; Hematopoietic Stem Cell Transplantation

Objective: To analyze the effects of maternal gestational weight gain and pre pregnancy body mass index (BMI) on the weight of preschool children,so as to provide scientific basis for prevention and treatment of overweight and obesity in children. Methods: Based on Jiangmen maternal and child health information platform, annual physical examination data of 3-6 years old preschool children from all nurseries and kindergartens in Jiangmen were collected from January to December 2024. A unique identification was made according to the mother s ID number and delivery date, and retrospective data collection was conducted on the platform to obtain pre pregnancy and pregnancy related information for 46 481 mothers. The Chi-square test,two way ordered variable analysis and Logistic regression analysis were used to compare the effects of maternal pre pregnancy BMI and gestational weight gain on overweight and obesity among preschool children. Results: A total of 5 168 (11.12%) children were overweight and obese, and the proportion of overweight and obesity in the 6 year old group was the highest (12.86%). There were significant differences in the detection rates of overweight and obesity between boys and girls ( χ 2=155.38), and there were also significant gender differences in the age groups of 4, 5 and 6 years ( χ 2=17.08, 96.97, 66.27)(all P <0.01). Through trend χ 2 test, the overall detection rates of overweight and obesity, as well as those for boys, increased with age ( χ 2 trend =49.36,60.54, both P <0.01). The BMI group of preschool children was correlated with the BMI group of their mothers before pregnancy and the weight gain group during pregnancy （χ 2= 1 250.64, 157.01, both P <0.01) and the proportion of children with higher BMI levels showed an upward trend with the improvement of their mothers pre-pregnancy BMI levels or gestational weight gain levels ( Gamma =0.13, 0.10, both P <0.01). Multiple Logistic regression analysis showed that pre pregnancy BMI groups as overweight ( OR =1.590, 1.922), obesity ( OR =2.100, 2.921 ), and male gender of the children ( OR =1.213, 1.763)，and newborns excessive birth weight( OR =1.001，1.001) increased the risks of overweight and obesity in preschool children; maternal gestational weight gain insufficiency ( OR =1.374) and advanced maternal age at the first prenatal visit ( OR =1.012) increased the risks of obesity in preschool children; maternal gestational weight gain deficiency or excess ( OR =1.324,1.118) increased the risk of overweight in preschool children (all P <0.01). Conclusions Maternal pre-pregnancy overweight and obesity and insufficient or excessive gestational weight gain increase the risk of overweight and obesity in preschool children. It is necessary to strengthen weight management before and during pregnancy to reduce the occurrence of childhood overweight and obesity.

Panvascular disease， with vascular diseases as the common pathological feature， is mainly manifested as atherosclerosis. Panvascular disease mainly affects the important organs of the heart， brain， kidney， and limbs. It is one of the leading causes of death for Chinese residents at present. Previously， due to the narrow branches of disciplines， too much attention was paid to local lesions， resulting in the neglect of panvascular disease as a systemic one. The fact that panvascular disease has overall pathology and comprehensive and individualized treatment strategies， makes the disease highly compatible with the principles of holism concept and syndrome differentiation and treatment in traditional Chinese medicine （TCM）. It is believed that blood stasis is the core pathogenesis of atherosclerosis and is involved in the whole process of atherosclerosis. The theories of ''blood vessel''， ''meridians''， ''visceral manifestation''， and ''organs-meridians'' in TCM are helpful to comprehensively understand the complexity of panvascular diseases. Moreover， those theories can provide systematic treatment strategies. The TCM syndromes of panvascular diseases evolve from ''phlegm， stasis， stagnation， and deficiency''. Panvascular arteriosclerosis is related to the syndrome of ''stasis and phlegm''， and the treatment mainly promotes blood circulation and removes phlegm. There are different specific drugs and mechanisms of action for coronary atherosclerosis， cerebral atherosclerosis， and renal artery atherosclerotic stenosis. Panvascular venous lesions are related to the syndrome of ''deficiency and stasis'' in TCM， and the TCM treatment mainly invigorates Qi and promotes blood circulation， which can inhibit venous thrombosis， improve venous ulcers， and resist venous endothelial damage. Panvascular microcirculatory lesions are inseparable from the ''stagnation and stasis'' in TCM， and the treatment mainly promotes Qi and dredges collaterals， which has a good effect on coronary microvascular lesions， diabetic microvascular lesions， pulmonary microvascular lesions， and pancreatic microvascular lesions. Panvascular lymphatic lesions are related to the syndrome of ''water and stasis'' in TCM. The treatment method focuses on promoting blood circulation and water excretion， which can promote lymphangiogenesis and enhance lymphatic reflux. In addition， the combination of TCM and modern technology， especially the application of artificial intelligence， can improve the efficiency of early identification and personalized treatment， resulting in early screening and comprehensive management of panvascular diseases. Therefore， TCM will play a vital role in the prevention and treatment of panvascular diseases.

Panvascular disease， with vascular diseases as the common pathological feature， is mainly manifested as atherosclerosis. Panvascular disease mainly affects the important organs of the heart， brain， kidney， and limbs. It is one of the leading causes of death for Chinese residents at present. Previously， due to the narrow branches of disciplines， too much attention was paid to local lesions， resulting in the neglect of panvascular disease as a systemic one. The fact that panvascular disease has overall pathology and comprehensive and individualized treatment strategies， makes the disease highly compatible with the principles of holism concept and syndrome differentiation and treatment in traditional Chinese medicine （TCM）. It is believed that blood stasis is the core pathogenesis of atherosclerosis and is involved in the whole process of atherosclerosis. The theories of ''blood vessel''， ''meridians''， ''visceral manifestation''， and ''organs-meridians'' in TCM are helpful to comprehensively understand the complexity of panvascular diseases. Moreover， those theories can provide systematic treatment strategies. The TCM syndromes of panvascular diseases evolve from ''phlegm， stasis， stagnation， and deficiency''. Panvascular arteriosclerosis is related to the syndrome of ''stasis and phlegm''， and the treatment mainly promotes blood circulation and removes phlegm. There are different specific drugs and mechanisms of action for coronary atherosclerosis， cerebral atherosclerosis， and renal artery atherosclerotic stenosis. Panvascular venous lesions are related to the syndrome of ''deficiency and stasis'' in TCM， and the TCM treatment mainly invigorates Qi and promotes blood circulation， which can inhibit venous thrombosis， improve venous ulcers， and resist venous endothelial damage. Panvascular microcirculatory lesions are inseparable from the ''stagnation and stasis'' in TCM， and the treatment mainly promotes Qi and dredges collaterals， which has a good effect on coronary microvascular lesions， diabetic microvascular lesions， pulmonary microvascular lesions， and pancreatic microvascular lesions. Panvascular lymphatic lesions are related to the syndrome of ''water and stasis'' in TCM. The treatment method focuses on promoting blood circulation and water excretion， which can promote lymphangiogenesis and enhance lymphatic reflux. In addition， the combination of TCM and modern technology， especially the application of artificial intelligence， can improve the efficiency of early identification and personalized treatment， resulting in early screening and comprehensive management of panvascular diseases. Therefore， TCM will play a vital role in the prevention and treatment of panvascular diseases.

Radiochemotherapy-induced oral mucositis (OM) is a common oral complication in patients with tumors following head and neck radiotherapy or chemotherapy. Erosion and ulcers are the main features of OM that seriously affect the quality of life of patients and even the progress of tumor treatment. To date, differences in clinical prevention and treatment plans for OM have been noted among doctors of various specialties, which has increased the uncertainty of treatment effects. On the basis of current research evidence, this expert consensus outlines risk factors, clinical manifestations, clinical grading, ancillary examinations, diagnostic basis, prevention and treatment strategies and efficacy indicators for OM. In addition to strategies such as basic oral care, anti-inflammatory and analgesic agents, anti-infective agents, pro-healing agents, and photobiotherapy recommended in previous guidelines, we also emphasize the role of traditional Chinese medicine in OM prevention and treatment. This expert consensus aims to provide references and guidance for dental physicians and oncologists in formulating strategies for OM prevention, diagnosis, and treatment, standardizing clinical practice, reducing OM occurrence, promoting healing, and improving the quality of life of patients.
Humans ; Chemoradiotherapy/adverse effects* ; Consensus ; Risk Factors ; Stomatitis/etiology*

Nigella sativa L. seeds have been traditionally utilized in Chinese folk medicine for centuries to treat vitiligo. This study revealed that the ethanolic extract of Nigella sativa L. (HZC) enhances melanogenesis and mitigates oxidative stress-induced cellular senescence and dysfunction in melanocytes. In accordance with established protocols, the ethanol fraction from Nigella sativa L. seeds was extracted, concentrated, and lyophilized to evaluate its herbal effects via 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assays, tyrosinase activity evaluation, measurement of cellular melanin contents, scratch assays, senescence-associated β-galactosidase (SA-β-gal) staining, enzyme-linked immunosorbent assay (ELISA), and Western blot analysis for expression profiling of experimentally relevant proteins. The results indicated that HZC significantly enhanced tyrosinase activity and melanin content while notably increasing the protein expression levels of Tyr, Mitf, and gp100 in B16F10 cells. Furthermore, HZC effectively mitigated oxidative stress-induced cellular senescence, improved melanocyte condition, and rectified various functional impairments associated with melanocyte dysfunction. These findings suggest that HZC increases melanin synthesis in melanocytes through the activation of the MAPK, PKA, and Wnt signaling pathways. In addition, HZC attenuates oxidative damage induced by H₂O₂ therapy by activating the nuclear factor E2-related factor 2-antioxidant response element (Nrf2-ARE) pathway and enhancing the activity of downstream antioxidant enzymes, thus preventing premature senescence and dysfunction in melanocytes.
Oxidative Stress/drug effects* ; Melanocytes/cytology* ; Cellular Senescence/drug effects* ; Nigella sativa/chemistry* ; Plant Extracts/pharmacology* ; Seeds/chemistry* ; Mice ; Animals ; Melanins/metabolism* ; Monophenol Monooxygenase/metabolism* ; Humans

Objective To explore the effects of behavior change intervention based on the multi-ple-theory model on patients with dyslipidemic ischemic stroke.Methods A total of 93 patients with dyslipidemic ischemic stroke who were hospitalized in the vascular neurology ward of Beijing Tiantan Hospital,Capital Medical University from January to August 2024 were selected as the study subjects using the convenience sampling method.They were randomly divided into control group(n=49)and intervention group(n=44)using the envelope-drawing method.Patients in the control group re-ceived routine stroke health education,while those in the intervention group underwent a 3-month be-havior change program guided by the multiple-theory model.The levels of healthy behaviors,body mass index(BMI),total cholesterol(TC),triglycerides(TG),high-density lipoprotein(HDL-C),and low-density lipoprotein(LDL-C)were compared between the two groups.Results There were no statistically significant differences in general information and disease-related data between the two groups(P＞0.05).At 1-,3-,and 6-month after the intervention,the level of healthy behaviors in the intervention group was higher than that in the control group,with statistically significant differ-ences(P＜0.05).There was a statistically significant difference in BMI between the two groups at 6 months after the intervention(P＜0.05).The TC levels in the intervention group at 3 and 6 months after the intervention were lower than those in the control group,with statistically significant differences(P＜0.05).The HDL-C level in the intervention group at 6 months after the intervention was high-er than that in the control group,with a statistically significant difference(P＜0.05).The LDL-C levels in the intervention group at 1-,3-,and 6-month after the intervention were lower than those in the control group,with statistically significant differences(P＜0.05).There were no statistically significant differences in TG levels between the intervention group and the control group at different time points after the intervention(P＞0.05).Conclusion The behavior change intervention pro-gram based on the multiple-theory model can effectively improve and maintain healthy behaviors and improve blood lipid levels in patients with dyslipidemic ischemic stroke.

Objective To utilize single-cell and peripheral blood transcriptomic data from 3D brain organoids,combined with machine learning,to analyze the role of mitochondrial autophagy genes in schizophrenia(SCZ).Methods By integrating two machine learning algorithms,we identified differentially expressed mitochondrial autophagy-related genes between schizophrenia patients and healthy controls using peripheral blood RNA sequencing data.The relationship between mitophagy gene,immune cells and inflammatory factors was further explored.Comprehensive single-cell analysis was used to explore the signaling pathways and specific transcription factors based on mitophagy genes.Results Using machine learning,seven key mitophagy genes expressed in schizophrenia patients were identified.Based on Mitoscore analysis,at the single-cell level,neurons with high mitochondrial autophagy activity(Mitohigh_Neuron)formed new interactions with endothelial cells via the SPP1 signaling pathway.Conclusion This study identified two subtypes of mitophagy and seven key mitophagy genes in schizophrenia,providing new insights into the pathogenesis of the disease.

Objective To assess the intervention effect of nicotinamide mononucleotide (NMN) on the mouse model of hematotoxicity induced by subacute benzene exposure. Methods Benzene exposure and NMN intervention were adopted in a 2×2 factorial design, as benzene exposure and non-exposure, and NMN intervention and non-intervention. Male specific pathogen-free C57BL/6J mice were randomly assigned to negative control group, NMN control group, simple benzene exposure group and NMN intervention group, with 12 mice in each group. Benzene exposure of mice in simple benzene exposure group and NMN intervention group was conducted by dynamic inhalation of benzene at a concentration of 325 mg/m³ for six hours per day, five days per week for four weeks (28 days). Mice in the negative control and NMN control group inhaled clean air. During benzene exposure, mice in the NMN control group and NMN intervention group received NMN in drinking water at a dose of 300 mg/kg body weight. Peripheral blood samples of mice were collected for complete blood count analysis and calculation of composite inflammatory indices after 28 days. Results Interaction analysis showed that the counts of peripheral white blood cell, neutrophil, lymphocyte, and platelet of mice in the simple benzene exposure group were lower than those in the negative control group (all P<0.05). Neutrophil and platelet counts in the NMN intervention group were higher than those in the simple benzene exposure group (all P<0.05). The results of main effect analysis showed that the monocyte count of peripheral blood, systemic inflammatory index, systemic inflammatory response index, neutrophil/lymphocyte ratio and platelet/lymphocyte ratio of mice in the benzene exposure group increased (all P<0.05), and the basophil count and lymphocyte/monocyte ratio decreased (all P<0.05), compared with the control group. Conclusion Oral NMN alleviates subacute benzene-induced decreases in peripheral neutrophil and platelet counts in mice. This protective effect may be related to the targeted intervention of NMN on mitochondrial energy metabolism disorder and oxidative damage induced by benzene exposure in male mice.