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: Acupuncture therapies are known for their effectiveness in treating a variety of gastric diseases, although the mechanisms underlying these effects are not fully understood. This study tested the effectiveness of electroacupuncture (EA) at acupoints Zhongwan (RN12) and Weishu (BL21) for managing gastric motility disorder (GMD) and investigated the underlying mechanisms involved. METHODS: A GMD model was used to evaluate the impact of EA on various aspects of gastric function including the amplitude of gastric motility, electrogastrogram, food intake, and the rate of gastric emptying. Immunofluorescence techniques were used to explore the activation of spinal neurons by EA, specifically examining the presence of cholera toxin B subunit (CTB)-positive neurons and fibers emanating from acupoints RN12 and BL21. The stimulation of γ-aminobutyric acid (GABA)-ergic neurons in the spinal dorsal horn, the inhibition of sympathetic preganglionic neurons in the spinal lateral horn, and their collective effects on the activity of sympathetic nerves were examined. RESULTS: EA at RN12 and BL21 significantly improved gastric motility compromised by GMD. Notably, EA activated spinal neurons, with CTB-positive neurons and fibers from RN12 and BL21 being detectable in both the dorsal root ganglia and the spinal dorsal horn. Further analysis revealed that EA at these acupoints not only stimulated GABAergic neurons in the spinal dorsal horn but also suppressed sympathetic preganglionic neurons in the spinal lateral horn, effectively reducing excessive activity of sympathetic nerves triggered by GMD. CONCLUSION EA treatment at RN12 and BL21 effectively enhances gastric motility in a GMD model. The therapeutic efficacy of this approach is attributed to the activation of spinal neurons and the modulation of the spinal GABAergic-sympathetic pathway, providing a neurobiological foundation for the role of acupuncture in treating gastric disorders. Please cite this article as: Zhang MT, Liang YF, Dai Q, Gao HR, Wang H, Chen L, Huang S, Wang XY, Shen GM. A spinal neural circuit for electroacupuncture that regulates gastric functional disorders. J Integr Med. 2025; 23(1): 56-65.
Electroacupuncture ; Animals ; Male ; Acupuncture Points ; Stomach Diseases/physiopathology* ; Rats, Sprague-Dawley ; Gastrointestinal Motility ; Rats ; Gastric Emptying ; Neurons ; Spinal Cord ; Stomach/physiopathology*

OBJECTIVE: Hepatocellular carcinoma (HCC) is sensitive to ferroptosis, a new form of programmed cell death that occurs in most tumor types. However, the mechanism through which ferroptosis modulates HCC remains unclear. This study aimed to investigate the oncogenic role and prognostic value of FANCD2 and provide novel insights into the prognostic assessment and prediction of immunotherapy. METHODS: Using clinicopathological parameters and bioinformatic techniques, we comprehensively examined the expression of FANCD2 macroscopically and microcosmically. We conducted univariate and multivariate Cox regression analyses to identify the prognostic value of FANCD2 in HCC and elucidated the detailed molecular mechanisms underlying the involvement of FANCD2 in oncogenesis by promoting iron-related death. RESULTS: FANCD2 was significantly upregulated in digestive system cancers with abundant immune infiltration. As an independent risk factor for HCC, a high FANCD2 expression level was associated with poor clinical outcomes and response to immune checkpoint blockade. Gene set enrichment analysis revealed that FANCD2 was mainly involved in the cell cycle and CYP450 metabolism. CONCLUSION To the best of our knowledge, this is the first study to comprehensively elucidate the oncogenic role of FANCD2. FANCD2 has a tumor-promoting aspect in the digestive system and acts as an independent risk factor in HCC; hence, it has recognized value for predicting tumor aggressiveness and prognosis and may be a potential biomarker for poor responsiveness to immunotherapy.
Humans ; Carcinoma, Hepatocellular/diagnosis* ; Liver Neoplasms/diagnosis* ; Immunotherapy ; Fanconi Anemia Complementation Group D2 Protein/metabolism* ; Prognosis ; Male ; Female ; Middle Aged ; Biomarkers, Tumor/metabolism*

This article reports a child with cardioaciocutaneous syndrome (CFCS) caused by a rare microdeletion of chromosome 19p13.3, and a literature review is conducted. The child had unusual facies, short stature, delayed mental and motor development, macrocephaly, and cardiac abnormalities. Whole-exome sequencing identified a 1 040 kb heterozygous deletion in the 19p13.3 region of the child, which was rated as a "pathogenic variant". This is the first case of CFCS caused by a loss-of-function mutation reported in China, which enriches the genotype characteristics of CFCS. It is imperative to enhance the understanding of CFCS in children. Early identification based on its clinical manifestations should be pursued, and genetic testing should be performed to facilitate diagnosis.
Humans ; Chromosome Deletion ; Chromosomes, Human, Pair 19/genetics* ; Ectodermal Dysplasia/genetics* ; Facies ; Failure to Thrive/genetics* ; Heart Defects, Congenital/genetics*

OBJECTIVES: To investigate the association between maternal depressive symptoms and adolescent suicidal ideation, and to examine the chain mediating roles of childhood trauma and ineffectiveness. METHODS: A cross-sectional online survey was administered by school psychologists to 4 157 mother-adolescent pairs from middle schools in Shanghai and Henan, China. Measures included the Center for Epidemiological Studies Depression Scale, the Childhood Trauma Questionnaire, and the Children's Depression Inventory. Using Bootstrap method to examine the chain mediating effect of childhood trauma and ineffectiveness on the relationship between maternal depression symptoms and adolescent suicidal ideation. RESULTS: The prevalence of maternal depressive symptoms was 17.68% (735/4 157); among adolescents, the prevalence of depressive symptoms was 15.49% (644/4 157), and suicidal ideation was 28.19% (1 172/4 157). Adolescent depressive symptoms and suicidal ideation were positively correlated with maternal depressive symptoms, childhood trauma, and ineffectiveness (all P<0.01). Childhood trauma significantly mediated the association between maternal and adolescent depressive symptoms (95%CI: 0.046 9-0.077 2). The chain mediation of childhood trauma and ineffectiveness in the association between maternal depressive symptoms and adolescent suicidal ideation was also significant (95%CI: 0.000 7-0.001 3). CONCLUSIONS Higher maternal depressive symptom levels are associated with a greater likelihood of adolescents' exposure to childhood trauma, which increases adolescents' ineffectiveness and, in turn, is associated with suicidal ideation. This chain effect has important implications for social interventions targeting adolescent depression.
Humans ; Suicidal Ideation ; Adolescent ; Female ; Depression/etiology* ; Cross-Sectional Studies ; Mothers/psychology* ; Male ; Child ; Adult

Ergopeptines or their derivatives are widely used for treating neurodegenerative and cerebrovascular diseases. The nonribosomal peptide synthetase-d-lysergyl peptide synthetase A (LPSA) determines ergopeptine formation but the detailed mechanism remains to be elucidated. Here, we characterized two LPSAs from Claviceps purpurea Cp-1 strain through heterologous expression in Aspergillus nidulans feeding with d-lysergic acid. We proved that Cp-LPSA1 catalyzed the formation of ergocornine, α-ergocryptine, and β-ergocryptine, precisely controlled by the substrate specificity of its three modules. Cp-LPSA2 was initially inactive but could be restored to catalyze α-ergosine formation. Using this platform, we validated that P1-LPSA1 and P1-LPSA2 from the reported C. purpurea P1 strain catalyzed ergotamine and α-ergocryptine formation, respectively. Typically, the non-ribosomal peptide codes implicated in every module of the LPSAs were defined and elucidated, in which certain key residues could play a switched role for substrate specificity and product interconversion. By constructing chimeric LPSAs through module assembly, the production of the desired ergopeptines was achieved. Notably, 1.46 mg/L of α-ergocryptine and 1.09 mg/L of ergotamine were produced respectively by mixed-culture of C. paspali No. 24 (fermentation supernatant) and the recombinants of A. nidulans. Our findings provide insights into the biosynthetic mechanism of ergopeptines and lay a foundation for directed ergopeptine biosynthesis.

Objective To analyze the trends of suicide mortality and disease burden among the elderly aged 60 and above in Chongqing from 2012 to 2023,providing evidence for targeted interventions.Methods Death cases of elderly aged 60 and above were extracted from death registration between 2012 and 2023 according to death records(International Statistical Classification of Diseases and Related Health Problems,10th version:X60-X84,Y87).The data were analyzed to calculate indicators such as the mortality rate,standardized mortality rate,years of life lost(YLL)rate,and average years of life lost(AYLL),and the composition ratio of different causes of death with using Excel 2010 and SPSS 26.0.The comparison of mortality rates between male and female,urban and rural area was conducted using the x2 test.The trend changes of the rates were expressed by the annual percentage change(APC)and the average annual percentage change(AAPC).Results From 2012 to 2023,the suicide mortality rate and standardized mortality rate of the elderly aged 60 and above generally showed a downward trend,decreasing by 3.54%and 4.02%,respectively(P<0.05).From 2012 to 2016,the suicide mortality rate increased by an average of 4.53%per year,and from 2016 to 2021,it decreased by an average of 8.91%per year,and both trends were significant(P<0.05).Only in 2020 and 2022,the male suicide mortality rate was significantly higher than that of females(P<0.05).From 2012 to 2023,the suicide mortality rate and standardized mortality rate of males and females decreased by an average of 2.86%,3.44%,4.21%,and 4.69%per year respectively,and the trends were significant(P<0.05).The suicide mortality rate of the elderly aged 60 and above in rural areas was significantly higher than that in urban areas over the years(P<0.05).From 2012 to 2023,the suicide mortality rate and standardized mortality rate in urban areas remained relatively stable(P>0.05),while the suicide mortality rate and standardized mortality rate of the elderly aged 60 and above in rural areas decreased by an average of 3.44%and 4.02%per year respectively,and the trends were significant(P<0.05).The YLL rate and AYLL caused by suicide among the elderly aged 60 and above decreased from 3.03‰ and 18.54 years in 2012 to 2.26‰ and 17.50 years in 2023 respectively,and the AAPC were-4.02%and-0.60%respectively,and the trends were significant(P<0.05).By comparing the composition of deaths by different suicide methods over the years,it was found that the proportion of deaths due to pesticide poisoning showed a downward trend,while the proportions of deaths by hanging,jumping from a height,and drowning showed an upward trend.Conclusion The suicide mortality rate of the elderly aged 60 and above in Chongqing is relatively high.Although demonstrating an overall downward trend,enhanced efforts toward early identification and intervention for elderly suicide should be enhanced.

Objective To design a new type of elastic gloves for burn scar rehabilitation to solve the problems of conventional elastic gloves in pressure distribution,elasticity maintenance and absorption of sweat stains.Methods The new elastic gloves was made of non-woven fabric by spandex material,which was composed of external and internal parts.The main body of the external part was used as the primary structure of the gloves,which was provided with a sealing strip,a storage bag,a drawstring,etc.The internal part consisted of a bonding sheet,an elastic band,a fiber sheet,an absorbent sponge,some breathable holes,etc.Results The new elastic gloves designed could be used for the pressure therapy for the scars on the opisthenar,palm side,finger web and purlicue with scar proliferation inhibitted effectively,and the breathable hole and absorbent sponge contributed to the absorption of the sweat of the patient.Conclusion The new type of elastic gloves gains advantages in elasticity,wearing comfort and effectiveness of the pressure therapy for purlicue and finger web,and can be used for the pressure therapy to inhibit proliferative scarring after burns.[Chinese Medical Equipment Journal,2025,46(8):118-120]

AIM:The aim of this study was to explore the effects of Yiqi-Yangyin-Quyu prescription(YP)on skeletal muscle injury and related metabolic disorders in mice with Sj?gren syndrome(SS),and to clarify the role of hy-droxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta(Hadhb)in mediating the effect of YP on skeletal muscle in SS.METHODS:The SS mice underwent YP treatment for 8 weeks.The morphological changes of the submandibular gland and muscle tissue were examined using hematoxylin-eosin staining.The mitochondrial status in mus-cle tissue was assessed through transmission electron microscopy.Additionally,combined transcriptome and proteome se-quencing was conducted on skeletal muscle samples.The omics sequencing results were validated by RT-qPCR.Immuno-fluorescence was used to confirm the levels of key proteins involved in the P53/peroxisome proliferator-activated receptor gamma(PPARG)signaling pathway.Immunohistochemistry and Western blot were employed to determine the levels of Hadhb key targets.RESULTS:Combined transcriptome and proteome analysis identified 1 523 differentially expressed genes(DEGs)and 182 differentially expressed proteins(DEPs)between the muscle tissue of SS mice(model group)and that of control animals(ICR group),12 of which showed co-differential expression at both transcriptomic and proteomic levels.Compared with model group,1 232 genes and 432 proteins were found to be differentially expressed in the muscle tissue of the mice in YP group.Among these,23 exhibited co-differential expression at both mRNA and protein levels.Gene Ontology(GO)analysis showed that the DEGs and DEPs between ICR and model groups were mainly involved in ener-gy metabolism and fatty acid oxidation,while the DEGs and DEPs between YP and model groups were primarily associated with sarcomere tissue and actin structure.Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analysis indi-cated that the DEGs and DEPs between ICR and model groups and between model and YP groups were enriched in the com-plement and coagulation cascade and lipid and pyruvate metabolism.The RT-qPCR validation results were consistent with those of the transcriptome analysis.Furthermore,the protein expression of the tumor suppressor P53 was significantly de-creased in YP group compared with model group,whereas that of PPARG was significantly increased.Western blot analy-sis showed that compared with ICR group,Hadhb protein expression was significantly decreased in model group,whereas the opposite trend was detected in YP group.CONCLUSION:The SS-related skeletal muscle damage is closely related to amino acid metabolism disorder and fatty acid degradation.Treatment with YP modulates innate immune defenses,lipid metabolism and energy metabolism in SS,and Hadhb is the key target of YP in SS-related skeletal muscle.

Objective:To retrospectively analyse the clinical data of patients after NUSS procedure for pectus excavatum, and summary of surgical techniques for NUSS bar removal.Methods:Retrospectively collected the clinical data of 276 patients undergoing NUSS bar removal from January 2024 to September 2024 in Beijing Children's Hospital affiliated to Capital Medical University. The age of the patients ranged from 6 to 20 years old, 211 males and 65 females. The average time the bar was in place in the body was 36 months.Results:All 276 patients successfully completed the NUSS bar removal. The average operative time was 22.6 min, with an average blood loss of 3.3 ml. 90 patients with bone scabs, 104 patients with wire breakage were successfully removed. 2 cases of postoperative wound infection, no other intraoperative and postoperative complications. The average hospitalization time after surgery was 1.2 days. Follow up for 3 months after surgery, and no abnormalities were found on the chest X-ray.Conclusion:Mastering the surgical techniques for pectus excavatum bar removal enhances the safety and efficiency of the procedure. It effectively reduces the incidence of intraoperative and postoperative complications, shortens operative time, and alleviates postoperative pain in patients.