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.

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.

This paper aims to discuss the construction and promotion strategy of medical care capacity framework based on the core literacy of palliative care， combining domestic and foreign research and clinical status. The research results show that it is particularly important to construct a framework of medical care competence based on palliative care. The core competencies required for palliative care include the ability to comprehensively evaluate and formulate personalized programs， effective communication skills， interdisciplinary teamwork skills， and the ability to continuously learn and improve themselves. The quality of care can be further improved if the above abilities are incorporated into the framework of medical care ability based on palliative care. However， there are a series of problems in the process of constructing the framework of palliative medical care capacity， such as difficult implementation of policy support， poor professionalism of talent team， single and irregular service model， low social acceptance， and difficult interdisciplinary cooperation and resource integration. After a detailed analysis of the problems， this paper puts forward the countermeasures to construct the framework of caring ability literacy based on palliative care. Effective countermeasures such as increasing policy support， cultivating comprehensive talents， developing diversified palliative care models， improving social recognition， and strengthening interdisciplinary cooperation and resource integration can effectively improve the core literacy and professional ability of medical care personnel， and then promote the development and improvement of palliative care services. In-depth discussion of the above contents can provide scientific reference for building a care model and literacy framework with palliative care as the core.

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 Maternal-and-child health(MCH)hospitals simultaneously provide clinical care and manage community-based public-health projects for women and children.We aimed to design and test a performance-based salary and e-valuation system that recognizes this dual responsibility and incentivizes high-quality public-health work.Methods Aligned with the national tertiary-level MCH-hospital performance appraisal standards and local project realities,we applied four industrial-en-gineering techniques—empirical time-and-motion estimation,classification,analogy and work-study—to convert every public-health project into quantifiable modules with pre-set labor-hour quotas.Bonuses were calculated under"more work,more pay"and"increment incentive"rules,while appraisal covered two dimensions:(ⅰ)project-specific indicators(coverage,timeliness,completeness)and(ⅱ)outcome evaluation(health impact and user satisfaction).Performance pay was then approved and dis-tributed to staff responsible for project management.Results Analysis of the 2022-2024 implementation period showed clear gains:① Work-force mobilization:departments managing MCH projects grew from 17 to 22 and staff from 22 to 73;all core pro-ject indicators improved significantly.② Service expansion:valid service volume generated by jurisdiction-level MCH project ac-tivities rose by 62.31％.Conclusion The scientific,standardized and operable performance and evaluation system for maternity and child projects developed in this study can help effectively improve the management efficiency of maternity and child projects in the jurisdiction and promote the high-quality development of the hospital.

Objective:To compare the application effects of different approaches (bilateral approach, traditional intermediate approach) in laparoscopic radical resection of rectal cancer with preservation of left colonic artery (LCA).Methods:The data of 120 patients undergoing laparoscopic radical resection of rectal cancer from January 2021 to December 2023 were retrospectively analyzed. Based on the different surgical approaches chosen for preserving LCA, 67 patients who underwent traditional intermediate approach to preserve LCA were included in the control group, while the remaining 53 patients who underwent bilateral approach to preserve LCA were included in the study group. The results of the main outcome indicators were recorded and the differences between the groups were compared, including perioperative indicators; lymph node dissection; gastrointestinal hormones (gastrin and motilin) before operation and 2 d after operation; postoperative complications such as anastomotic bleeding, anastomotic leakage, and urinary dysfunction.Results:Compared with the control group, the study group had longer surgical time and more intraoperative bleeding: (132.68 ± 11.24) min vs. (126.54 ± 10.45) min, (78.41 ± 5.35) ml vs. (75.22 ± 5.10) ml, the difference was statistically significant ( P = 0.003 and 0.001). However, there was no significant difference in exhaust time and hospitalization time between the two groups ( P>0.05). There was no significant difference in total lymph node clearance between the two groups ( P>0.05). The number of lymph node dissection in the 253 groups of the study group was higher than that in the control group: (5.18 ± 1.26) pieces vs. (4.35 ± 1.32) pieces, the difference was statistically significant ( P = 0.001). On the second day after surgery, the serum gastrin and motilin in both groups decreased compared to before surgery, but there was no significant difference between the two groups ( P>0.05). The incidence of postoperative urinary dysfunction in the study group was lower than that in the control group: 0 vs. 10.45% (7/67), the difference was statistically significant ( P = 0.015). Conclusions:Compared with the traditional intermediate approach for laparoscopic radical resection of rectal cancer with preserved LCA, the bilateral approach, although having a longer surgical time and slightly more intraoperative bleeding, can effectively clean 253 lymph nodes and reduce postoperative urinary dysfunction.

The mechanism of neuropathic pain after spinal cord injury is still unclear, which might be closely related to ion channel changes, central sensitization and decreased function of descending inhibitory system after injury. Existing studies have shown that the nucleotide-binding domain leucine-rich repeat and pyrin domain-containing receptor 3 (NLRP3) inflammasome play a key role in neuropathic pain after spinal cord injury; therefore, targeting NLRP3 inflammasome is a promising therapeutic strategy. This review analyzes the molecular mechanism and treatment of NLRP3 inflammasome in neuropathic pain after spinal cord injury, aiming to provide references for pathogenesis and treatment of neuropathic pain after spinal cord injury.

Objective To investigate the clinical distribution and risk factors of metabolic syndrome(MS)in children from Lubei district of Tangshan City from 2020 to 2024.Methods A total of 964 children were identified by multi-segment stratified cluster sampling.A questionnaire survey was conducted on all subjects,and the recovery rate of the questionnaire was 98.0%,with 945 samples recovered.The detection rates of MS in different populations were compared,and risk factors of MS in children were analysed by Logistic regression analysis.Results In 945 children,49(5.19%)had MS,and there was no significant difference in detection rate between different genders of children(P>0.05).There were no significant differences in blood pressure[systolic blood pressure(SBP)and diastolic blood pressure(DBP)],blood lipid[triglycerides(TG)and high density lipoprotein cholesterol(HDL-C)]between children ages 7 to 10 years old and 11 to 14 years old(P>0.05).The values of total cholesterol(TC),low-density lipoprotein cholesterol(LDL-C)and waist circumference(WC)were higher in boys aged 11-14 than those in girls(P＜0.05).The proportion of body weight and obesity,the proportion of physical activity time＜10 h/week,the proportion of family history of hypertension and WC level were higher in the MS group than those in the non-MS group(P＜0.05).Multivariate Logistic regression model showed that weight obesity,physical activity time＜10 h/week,family history of hypertension and high WC value were independent risk factors for MS in children(P＜0.05).Conclusion Obesity,family history of hypertension,time spent in physical activity and higher WC are strongly associated with the development of MS in children,and clinical attention should be paid to them.