OBJECTIVE: To summarize the clinical and genetic characteristics of a child with 46,XX Ovotesticular disorder of sex development (46,XX OTDSD) due to copy number variation of SOX3 gene. METHODS: A 46,XX male patient presented at the Capital Center for Children's Health, Capital Medical University in November 2024 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents and subjected to trio whole-genome sequencing. Skewed X-chromosome inactivation was tested in the child and his mother. A literature review was carried out on 46,XX males associated with mutations of the SOX3 gene. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: SHERLL2025056). RESULTS: The 10-year-old boy presented with hypospadias and cryptorchidism at birth. Chromosome analysis at one year and a half revealed a 46,XX karyotype. Gonadal biopsy showed testicular tissue, while ultrasound at the age of 10 detected ovotesticular tissue. Whole-genome sequencing identified a 660 kb duplication in the Xq27.1 region, which was derived from his mother. X-chromosome inactivation testing showed random inactivation in the child and mild non-random inactivation in the mother. Literature review has found 11 publications involving 15 patients (including our case), among whom 14 had a male social gender. They had primarily presented with hypospadias at birth but had no significant endocrine abnormalities. Most patients had experienced testicular failure after puberty. SOX3 related 46,XX males are mainly caused by de novo duplications, although a few maternal carriers had been discovered. CONCLUSION Duplication of the SOX3 gene probably underlay the pathogenesis is this 46,XX male. Individuals with 46,XX SRY negative male phenotypes should be routinely screened for SOX3 gene variants. Structural variations of the SOX3 gene can lead to complete or partial sex reversal in 46,XX individuals with minimal impact on intellectual and motor development, as well as other endocrine hormones.
Child ; Humans ; Male ; 46, XX Disorders of Sex Development/genetics* ; DNA Copy Number Variations ; Gene Duplication ; Phenotype ; SOXB1 Transcription Factors/genetics*

ObjectiveProtein-protein interactions (PPIs) are fundamental to the execution of biological functions within living cells. However, traditional biochemical methods, such as co-immunoprecipitation (Co-IP), often fail to capture transient, weak, or membrane-associated interactions due to the stringent detergent requirements for cell lysis. Proximity labeling (PL) has emerged in recent years as a transformative technology for mapping the proteomes of specific subcellular compartments and identifying dynamic interactomes in situ. Golgi protein 73 (GP73, also known as GOLPH2), a resident type II Golgi transmembrane protein, is a well-recognized clinical biomarker for liver diseases, including hepatocellular carcinoma (HCC). Despite its clinical significance, the comprehensive physiological and pathological functions of GP73 remain partially understood. This study aims to establish an APEX2-mediated proximity labeling system specifically targeting GP73 to map its interactome in a living cellular environment, thereby providing new insights into its molecular roles and regulatory mechanisms. MethodsTo achieve spatial specificity, we first constructed a stable cell line expressing a fusion protein consisting of GP73 and the engineered soybean peroxidase APEX2. The localization of the GP73-APEX2 fusion protein was validated to ensure it correctly targeted the Golgi apparatus. The proximity labeling reaction was initiated by incubating the cells with biotin-phenol (BP) for 30 min, followed by a brief (1 min) treatment with1 mmol/L hydrogen peroxide (H₂O₂). This catalytic reaction converts BP into highly reactive, short-lived biotin-phenoxyl radicals that covalently attach to endogenous proteins within a small labeling radius of the GP73-APEX2 enzyme. Subsequently, the cells were quenched, and biotinylated proteins were enriched using high-affinity streptavidin-coated magnetic beads. The captured “neighbor” proteins were subjected to on-bead digestion and analyzed via liquid chromatography-tandem mass spectrometry (LC-MS/MS) for high-throughput identification. Rigorous bioinformatics analysis, including Gene Ontology (GO) enrichment, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis, and protein-protein interaction network mapping, was performed to interpret the biological significance of the identified candidates. ResultsOur results demonstrate the successful establishment of a robust and sensitive APEX2-based proximity labeling system for GP73. We identified a total of 95 high-confidence interacting proteins that were significantly enriched in the GP73 proximity proteome compared to control groups. Bioinformatics analysis revealed that these interactors were predominantly associated with biological processes such as vesicular transport, protein localization, and, most notably, molecular functions related to “ribosome binding” and “translation regulation”. This suggested an unexpected role for the Golgi-resident GP73 in the cellular translation machinery. To validate these findings, we performed targeted biochemical assays which confirmed a direct interaction between GP73 and the subunits of the eukaryotic translation initiation factor 3 (eIF3) complex, specifically EIF3G and EIF3I. Furthermore, functional validation using the surface sensing of translation (SUnSET) assay—a non-radioactive method to monitor protein synthesis—revealed that the overexpression of GP73 significantly promoted global protein translation levels in the cell, whereas its depletion or inhibition resulted in reduced translation efficiency. ConclusionThis study successfully utilized APEX2-mediated proximity labeling to provide the first systematic map of GP73 interactome in living cells. Our findings uncover a novel, unconventional function of GP73 as a regulator of cellular protein translation, likely mediated through its interaction with the eIF3 complex. This discovery significantly broadens our understanding of the biological roles of GP73 beyond its traditional function in the Golgi apparatus and suggests that it may act as a bridge between Golgi-related trafficking and the protein synthesis machinery. Furthermore, the technical framework established in this study provides a valuable template for investigating other complex organelle-associated protein networks and resolving transient macromolecular interactions in various physiological and pathological contexts.

BACKGROUND: Modern acupuncture anesthesia is a combination of Chinese and Western medicine that integrates the theories of acupuncture with anesthesia. However, some clinical studies of acupuncture anesthesia lack specific descriptions of randomization, allocation concealment, and blinding processes, with subsequent systematic reviews indicating a risk of bias. OBJECTIVE: Clinical trial registration is essential for the enhancement of the quality of clinical trials. This study aims to summarize the status of clinical trial registrations for acupuncture anesthesia listed on the World Health Organization International Clinical Trials Registry Platform (ICTRP). SEARCH STRATEGY: We searched the ICTRP for clinical trials related to acupuncture anesthesia registered between January 1, 2001 and May 31, 2023. Additionally, related publications were retrieved from PubMed, Cochrane Library, Embase, China National Knowledge Infrastructure, China Science and Technology Journal Database, and Wanfang Data. Registrations and publications were analyzed for consistency in trial design characteristics. INCLUSION CRITERIA: Clinical trials that utilized one of several acupuncture-related therapies in combination with pharmacological anesthesia during the perioperative period were eligible for this review. DATA EXTRACTION AND ANALYSIS: Data extracted from articles included type of surgical procedure, perioperative symptoms, study methodology, type of intervention, trial recruitment information, and publication information related to clinical enrollment. RESULTS: A total of 166 trials related to acupuncture anesthesia from 21 countries were included in the analysis. The commonly reported symptoms in the included studies were postoperative nausea and vomiting (19.9%) and postoperative pain (13.3%). The concordance between the publications and the trial protocols in the clinical registry records was poor, with only 31.7% of the studies being fully compatible. Inconsistency rates were high for sample size (39.0%, 16/41), blinding (36.6%, 15/41), and secondary outcome indicators (24.4%, 10/41). CONCLUSION The volume of acupuncture anesthesia clinical trials registered in international trial registries over the last 20 years is low, with insufficient disclosure of results. Postoperative nausea and vomiting as well as postoperative pain, are the most investigated for acupuncture intervention. Please cite this article as: Li Y, Liu YN, Guo Z, Gu ME, Wang WJ, Zhu Y, Zhuang XJ, Chen LM, Zhou J, Li J. Current situation of clinical trial registration in acupuncture anesthesia: A scoping review. J Integr Med. 2025; 23(3): 256-263.
Humans ; Acupuncture Analgesia ; Acupuncture Therapy ; Anesthesia ; Clinical Trials as Topic ; Registries

BACKGROUND: The association of systemic inflammatory response index (SIRI) with prognosis of coronary artery disease (CAD) patients has never been investigated in a large sample with long-term follow-up. This study aimed to explore the association of SIRI with all-cause and cause-specific mortality in a nationally representative sample of CAD patients from United States. METHODS: A total of 3386 participants with CAD from the National Health and Nutrition Examination Survey (NHANES) 1999-2018 were included in this study. Cox proportional hazards model, restricted cubic spline (RCS), and receiver operating characteristic curve (ROC) were performed to investigate the association of SIRI with all-cause and cause-specific mortality. Piece-wise linear regression and sensitivity analyses were also performed. RESULTS: During a median follow-up of 7.7 years, 1454 all-cause mortality occurred. After adjusting for confounding factors, higher lnSIRI was significantly associated with higher risk of all-cause (HR = 1.16, 95% CI: 1.09-1.23) and CVD mortality (HR = 1.17, 95% CI: 1.05-1.30) but not cancer mortality (HR = 1.17, 95% CI: 0.99-1.38). The associations of SIRI with all-cause and CVD mortality were detected as J-shaped with threshold values of 1.05935 and 1.122946 for SIRI, respectively. ROC curves showed that lnSIRI had robust predictive effect both in short and long terms. CONCLUSIONS SIRI was independently associated with all-cause and CVD mortality, and the dose-response relationship was J-shaped. SIRI might serve as a valid predictor for all-cause and CVD mortality both in the short and long terms.

Protein-protein interactions play an extremely important role in the biochemical functions of cells,and in-depth analysis of protein interactions is the key to understanding cellular life activities.In this study,we systematically mined the interacting proteins of Golgi protein 73(GP73)using classical immunoprecipitation combined with mass spectrometry,and sought to further analyze the molecular func-tion of GP73.Hepatocellular carcinoma cell line HepG2 was selected,and a stable cell line overexpress-ing GP73-3Flag was constructed using lentiviral infection technology.A total of 78 high-confidence GP73 interacting proteins were identified by immunoprecipitation coupled with mass spectrometry.Bioinformat-ics analyses suggested that GP73 interacted with nearly 40 cytosolic proteins and participated in the bio-logical processes of RNA transport,splicing,and translation.Further immunofluorescence and cytosolic protein isolation experiments confirmed the cytosolic localization of GP73 in a variety of tumor cells.Based on the 78 interacting proteins,we further screened protein interaction networks related to mRNA splicing and verified the existence of interactions between GP73 and seven proteins,including HNRN-PH3,SMN1,RBM14,andNCBP1,by co-immunoprecipitation experiments.In addition,minigene spli-cing assay results indicated that GP73 inhibited the splicing efficiency of pre-mRNA by cells.This study contributes to the expansion of knowledge regarding the function of GP73 and aids in elucidating its criti-cal role in cell biology and its potential association with diseases.

Objective:To investigate anxiety symptoms and associated factors in relocated elderly residents of new townships,and to provide evidence for prevention interventions.Methods:A cross-sectional study was conduc-ted in relocated elderly residents in new townships of three urban areas in Shandong Province from 2021 to 2023.The study instruments included Ascertain Dementia-8,Generalized Anxiety Disorder-7,self-administered de-mographic characteristics information questionnaire.Multivariate analysis of factors associated with anxiety symp-toms in elderly residents was performed using multivariate logistic regression.Results:The prevalence rate of mild anxiety symptoms was 5.8％,and the rate of moderate-to-severe anxiety symptoms was 1.3％in 3 313 resi-dents.Multivariate analysis found that self-assessed general psychological condition(OR=0.52),good family envi-ronment(OR=0.34),no self-perceived cognitive impairment(OR=0.31),no chronic diseases(OR=0.42),and only one chronic disease(OR=0.61)were protective factors for mild anxiety symptoms,and very good dietary structure(OR=2.15)and fair dietary structure(OR=2.39)were risk factors for those.Very good family environ-ment(OR=0.11)and average family environment(OR=0.16),and no self-perceived cognitive impairment(OR=0.14)were protective factors for moderate-to-severe anxiety symptoms,and 0-3 years(OR=3.24)and 4-6 years(OR=3.28)of relocation were risk factors for those.Conclusion:Family environment,dietary structure,and duration since relocation are key factors associated with anxiety symptoms among relocated elderly residents in new townships.Targeted interventions should be implemented to address their mental health needs.

Objective:To explore the association between perceived social support,TMEM161B gene rs768705 polymorphism,and their interaction with incidence of depressive symptoms in the freshmen.Methods:A total of 9928 freshmen from two medical universities were investigated at baseline and follow-up two years later during 2018-2020 by cluster sampling.A self-report demographic characteristics questionnaire was used to collect information of general demographic characteristics.Perceived Social Support Scale,Beck Depression Inventory,Beck Anxiety Inventory and Adolescent Self-Rating Life Events Check List were used to measure the level of perceived social support,depressive symptoms,anxiety symptoms and the number of negative life events of individuals.Blood sam-ples were collected and typed for DNA by professionals.Results:Family support and other support were all nega-tively associated with depressive symptoms in the freshmen(OR=0.96,95％CI:0.93-0.99;OR=0.94,95％CI:0.91-0.98).There was no correlation between friend support and depressive symptoms in the freshmen(OR=0.99,95％CI:0.95-1.02).TMEM161B gene rs768705 polymorphism(AG)was positively associated with de-pressive symptoms in the freshmen(OR=1.58,95％CI:1.12-2.23).The interactions of friend support with TMEM161B gene rs768705 polymorphism(AG)(OR=1.13,95％CI:1.02-1.26)and other support with TMEM161B gene rs768705 polymorphism(AG)(OR=1.13,95％CI:1.02-1.25)had significant effects on the incidence of depressive symptoms in the females and no significant effect in the males.Conclusion:The perceived social support,TMEM161B gene rs768705 polymorphism and their interaction are associated with influence of de-pressive symptoms,and have sex difference in the freshmen.

Objective:To explore relationships and differences of perceived social support and depression-anx-iety symptoms between rural-to-urban migrated residents and rural residents.Methods:A total of 5 958 rural-to-ur-ban migrated residents and 4 720 rural residents were recruited.The Patient Health Questionnaire-9,Generalized Anxiety Disorder-7,and Perceived Social Support Scale were used to assess symptoms of depression,anxiety,and social support,respectively.Network estimation,centrality and predictability measurement,accuracy and stability verification,and network comparison were conducted based on R 4.2.0 to compare the network structure differ-ences between the two groups of residents.Results:In rural-to-urban migrated residents,"lack of energy"in depres-sive symptoms and"inability to control worry"in anxiety symptoms were the nodes with the highest expected influ-ence(EI).In rural residents,"low self-evaluation"in depressive symptoms and"difficulty relaxing"in anxiety symptoms were the nodes with the highest EI.The highest node of perceived social support EI for both groups was"support from relatives/leaders."The bridge nodes were the same for rural-to-urban migrated residents and rural residents,with"be down in spirits"being the nodes with the highest bridge expected influence.The results of net-work comparison test showed that the overall network structure of rural-to-urban migrated residents and rural resi-dents was statistically different(P＜0.05).Conclusion:There are correlation and difference among depressive symptoms,anxiety symptoms,and perceived social support in rural-to-urban migrated and rural residents.

Objective:To explore the risk factors of suicidal ideation in community residents in Shandong province,China,and to establish a prediction model and a nomogram for the risk of suicidal ideation.Methods:To-tally 11 087 community residents in Jining City,Zoucheng City,and Weifang City,Shandong Province,were recrui-ted as the study subjects.The general information questionnaire,Composite International Diagnostic Interview-3.0,General Anxiety Disorder-7,were used to collect demographic information,mental health status,family information,and lifestyle using a computer-assisted interview system to conduct face-to-face interview.LASSO regression and binary logistic regression analyses were used to develop a nomogram model of the risk of suicidal ideation.Results:Young people,female,smoking,non-new town residents,no physical exercise,difficulty approaching people,anxiety symptoms and depression were effective predictors of suicidal ideation.The area under the curve(AUC)of the training set(AUC)was 0.89(95％CI:0.85-0.93)and AUC of the validation set(AUC)was 0.83(95％CI:0.75-0.92).Conclusion:The nomogram prediction model constructed in this study on suicidal ideation in com-munity residents has a high degree of differentiation and accuracy.It could be used to screen people at high risk of suicide and provide intervention to suicidal ideation in community residents.

Objective:To understand the potential characteristics of decision-making preparation in outpatient hypertensive patients based on latent profile analysis, to identify the influencing factors of different categories of decision-making preparation levels, and to explore the performance of different decision-making preparation types in facilitation of patients involvement in treatment decision-making.Methods:Through a cross-sectional study, 350 hypertensive patients attending outpatient clinics in five different types of healthcare institutions (general hospitals, specialised hospitals and community hospitals) in Tianjin during January to May 2024 who met the inclusion and exclusion criteria were selected by the convenience sampling method as study subjects. General Information Questionnaires, Preparation for Decision Making Scale, and Facilitation of Patient Involvement Scale were used for investigation.Results:Totally 350 valid questionnaires [178 males and 172 females aged 25-89(57.24 ± 13.39)years old] were collected. The decision-making preparation score of outpatient hypertensive patients was (64.19 ± 18.69). The latent profile analysis results showed that the decision-making preparation of outpatient hypertensive patients could be divided into three potential categories: decision-making information scarcity type accounted for 20.0%(70/350), decision-making balance negotiation type accounted for 39.7%(139/350), and decision-making preparation adequacy type accounted for 40.3%(141/350). The results of multiple Logistic regression analysis showed that age, medical insurance type, occupation, and children′s condition were the influencing factors for the potential categories of decision-making preparation in outpatient hypertensive patients (all P<0.05). Age [less than 35 years old: OR(95% CI)=0.127(0.020-0.796)], occupation [on the job: OR(95% CI)=2.010 (1.034-3.906)], were the influencing factors of decision-making balance negotiation group (all P<0.05). Medical insurance type [basic medical insurance for urban employees: OR(95% CI)=0.372(0.193-0.720)], occupation [on the job: OR(95% CI)=2.500(1.270-4.920)], children′s condition[junior and senior high school: OR(95% CI)=0.391(0.190-0.802)] were the influencing factors of decision-making preparation adequacy group (all P<0.05). Conclusions:The level of promoting patient participation among outpatients with hypertension is relatively high, and there are differences in the perceived degree of promoting patient participation among patients with different types of decision preparation.It is recommended that medical staff provide decision-making related information based on the characteristics of different decision-making preparation categories of patients, encourage patients to actively participate in decision-making, and construct targeted decision support plans.