OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with Hereditary spastic paraplegia type 3A (SPG3A) and the genotype-phenotype correlation. METHODS: A three-generation pedigree presented at Huantai Maternal and Child Health Care Hospital in March 2021 was selected as the study subject. Whole-exome sequencing (WES) and pedigree analysis was carried out. Candidate variant was validated by Sanger sequencing of the members from the pedigree. Haplotype analysis was used to trace the origin of the variant, and pathogenicity was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-12). RESULTS: A c.1024C>T (p.Pro342Ser) variant of the ATL1 was identified in the four affected members, including the proband, but none of the three unaffected relatives. Haplotype analysis suggested that the variant was derived from the proband's mother and has co-segregated with the disease phenotype. Based on the guidelines of the ACMG, it was classified as likely pathogenic. CONCLUSION The ATL1 c.1024C>T (p.Pro342Ser) variant probably underlay the pathogenesis in this pedigree. Above finding has enriched the mutational spectrum of ATL1 and phenotypic spectrum of SPG3A in the Chinese population, and enabled genetic counseling for this pedigree.
Humans ; Pedigree ; Spastic Paraplegia, Hereditary/genetics* ; Male ; Female ; Asian People/genetics* ; Adult ; Haplotypes ; Membrane Proteins/genetics* ; Exome Sequencing ; GTP-Binding Proteins/genetics* ; Mutation ; Middle Aged ; China ; Genetic Association Studies ; East Asian People

OBJECTIVE: To explore the serological and molecular genetic characteristics of a family with subtype B(A)06. METHODS: A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to "yellowing of the skin and gradual aggravation", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036). RESULTS: The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A and c.930G>A. Her grandfather had variations of c.297A>G, C.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A. Her grandmother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T and c.829G>A. Her father and aunt had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.526C>G, c.646T>A, c.657C>T, c.681G>A, c.703G>A, c.771C>T, c.796C>A, c.829G>A and c.930G>A. Her mother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T, and c.829G>A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C>G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inherited in this family. CONCLUSION The blood type of neonatal patients with B(A)06 subtype can be accurately determined by gene sequencing technology. If the forward typing is ≤ 3+ agglutination intensity in newborn ABO blood group identification, the reason should be carefully analyzed, and the molecular biology technology and family gene sequencing results should be used to jointly determine if necessary.
Humans ; ABO Blood-Group System/genetics* ; Female ; Pedigree ; Male ; Infant, Newborn ; Asian People/genetics* ; Genotype ; China ; Blood Grouping and Crossmatching ; Hyperbilirubinemia, Neonatal/blood* ; East Asian People

OBJECTIVE: To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists. METHODS: By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements. RESULTS: The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development. CONCLUSION Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans ; China ; Surveys and Questionnaires ; Genetic Diseases, Inborn/genetics* ; Cross-Sectional Studies ; Genetics, Medical/education* ; Genetic Testing

OBJECTIVE: To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel. METHODS: A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55). RESULTS: Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development. CONCLUSION The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
Humans ; Infant, Newborn ; Neonatal Screening/methods* ; Female ; Male ; Lipid Metabolism, Inborn Errors/epidemiology* ; Acyl-CoA Dehydrogenase/genetics* ; China/epidemiology* ; Follow-Up Studies

OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

OBJECTIVES: Pelvic floor dysfunction is common among pregnant and postpartum women and significantly impacts quality of life. This study aims to translate the German Pelvic Floor Questionnaire for Pregnant and Postpartum Women into Chinese and to evaluate its reliability and validity in the Chinese population. METHODS: The questionnaire was translated using the Brislin model. A cross-sectional study was conducted among pregnant and postpartum women to assess the content validity, construct validity, Cronbach's α coefficient, test-retest reliability, and split-half reliability of the Chinese version. RESULTS: A total of 72 women were included, with 6.9% being pregnant and 93.1% postpartum; the age was (32.3±3.6) years. The Chinese version of the questionnaire contains 4 dimensions and 45 items. The content validity index of individual items ranged from 0.833 to 1.000, with a scale-level content validity index of 0.977 and intraclass correlation coefficients (ICCs) exceeding 0.90. The overall Cronbach's α coefficient was 0.891, with subscale coefficients ranging from 0.732 to 0.884 (all ICCs>0.70). The test-retest reliability of the total scale was 0.833, and for the 4 dimensions, bladder, bowel, prolapse, and sexual function, the values were 0.776, 0.579, 0.732, and 0.645, respectively. The split-half reliability was 0.74. CONCLUSIONS The Chinese version of the questionnaire demonstrated good reliability and validity, indicating its applicability in assessing pelvic floor dysfunction and associated risk factors during pregnancy and postpartum.
Humans ; Female ; Surveys and Questionnaires ; Pregnancy ; Adult ; Postpartum Period ; Psychometrics ; Pelvic Floor Disorders/diagnosis* ; Cross-Sectional Studies ; Quality of Life ; Pelvic Floor/physiopathology* ; Reproducibility of Results ; China ; Translations ; Young Adult

OBJECTIVES: Non-suicidal self-injury (NSSI) is a common mental health and behavioral issue among adolescents. This study aims to investigate the developmental trajectory of adolescent NSSI and gender differences, providing a foundation for better prevention and intervention. METHODS: A longitudinal study was conducted using the Adolescent Self-Injury Scale (ASIS) in a cohort of 1 042 junior high school students from 3 middle schools in Zhangjiajie, Hunan Province. Participants were surveyed 3 times at 6-month intervals. A latent growth curve model was constructed using Mplus8.0 to examine the development trajectory of NSSI, and multi-group comparisons were used to assess gender differences. RESULTS: Detection rates of NSSI at the 3 time points were 43.95%, 44.43%, and 38.36%, respectively. Mean of the intercept factor of the LGCM for adolescent NSSI behavior was 9.540 (P<0.001), and the mean slope was -2.297 (P<0.001). Both the variances of the intercept (σ²=169.431, P<0.001) and slope (σ²=141.981, P<0.001) were significant, with a significant negative correlation between intercept and slope (r=-0.559, P<0.001). There were no statistically significant gender differences in initial level or rate of change of NSSI behaviors (P>0.05). CONCLUSIONS NSSI is relatively prevalent among adolescents, with female adolescents experiencing more severe NSSI. Individual differences exist in both the initial level and rate of change of NSSI, and overall, adolescent NSSI shows a decreasing trend over time. No significant gender differences were found in the trajectory of change.
Humans ; Self-Injurious Behavior/psychology* ; Adolescent ; Male ; Female ; Longitudinal Studies ; Sex Factors ; Adolescent Behavior/psychology* ; China/epidemiology* ; Surveys and Questionnaires ; Students/psychology*

Bariatric and metabolic surgery has become a primary treatment for decompensated obesity, with the number of procedures rapidly increasing in China in recent years. Various improved and novel surgical techniques have emerged. Given the characteristics of the Chinese obese population lower body mass index compared to Western populations and frequent pancreatic islet dysfunction laparoscopic Roux-en-Y gastric bypass remains one of the mainstream procedures in China. Although the Procedural Guideline for Laparoscopic Roux-en-Y Gastric Bypass (2019 Edition) has provided standardized surgical steps, mastering and routinely implementing the procedure in clinical practice continues to pose significant challenges. Compared to laparoscopic sleeve gastrectomy, laparoscopic Roux-en-Y gastric bypass is more technically demanding and requires a longer learning curve. To avoid suboptimal weight loss or severe postoperative complications resulting from non-standardized techniques, this article summarizes the authors' clinical experience, emphasizing key technical steps: creation of the gastric pouch, standardization of gastrojejunal and jejunojejunal anastomoses, hiatal closure, and full serosalization. These insights aim to improve procedural safety and therapeutic efficacy by offering a set of practical process optimization strategies.
Humans ; Gastric Bypass/methods* ; Laparoscopy/methods* ; Obesity, Morbid/surgery* ; Postoperative Complications/prevention & control* ; China ; Jejunum/surgery* ; Gastrectomy/methods* ; Anastomosis, Surgical/methods* ; Weight Loss

OBJECTIVES: Obtaining informed consent from research participants is an ethical and legal obligation for medical researchers in clinical studies. Electronic informed consent (eIC) is increasingly being adopted in clinical research worldwide. However, there is limited data on Chinese medical researchers' knowledge and attitudes toward eIC. This study aims to investigate their knowledge, attitudes, and influencing factors regarding eIC use in clinical research. METHODS: This cross-sectional study was conducted using stratified random sampling. From June to August 2022, medical researchers from 8 tertiary hospitals were surveyed via an online platform (Wenjuanxing). A self-developed eIC knowledge questionnaire and attitude scale were used to assess participants' understanding and perceptions of eIC. Univariate analysis was employed to explore factors influencing attitude scores and the correlation between knowledge and attitudes. A generalized linear model was used to analyze associations between demographic characteristics and attitude scores, including the frequency of difficulties in using smartphones or computers, preferred device for using eIC, and their interaction effects. Stratified analysis was further performed for significant interactions. RESULTS: A total of 399 valid questionnaires were collected. The mean accuracy rate on the eIC knowledge questionnaire was (94.88±15.50)%. Of the respondents, 74.9% had heard of eIC, and 84.5% preferred using mobile devices over computers to access eIC. The median attitude score was 3.41 (3.18, 3.76), indicating generally positive attitudes. Specifically, 81.7% found eIC more convenient than paper-based consent, 79.7% considered it more efficient, and 51.1% believed it could fully replace paper forms. However, 60.7% expressed concerns about data security and privacy, and 89.7% believed that relevant laws and regulations need improvement. Spearman correlation analysis showed a weak positive correlation between knowledge and attitude scores (r=0.171, P=0.001). Univariate analysis indicated that the frequency of difficulty using devices and preferred device for eIC were significantly associated with attitude scores (P<0.05). After adjusting for confounding factors, the generalized linear model demonstrated that participants who occasionally experienced had difficulty using devices had significantly lower attitude scores compared to those who never had difficulty (β=-0.040, 95% CI -0.071 to -0.009, P=0.012). Those who preferred using PCs had significantly lower attitude scores than those who preferred mobile devices (β=-0.066, 95% CI -0.108 to -0.023, P=0.002). Interaction analysis showed a significant interaction analysis showed a significant interaction between age and preferred device (P=0.011), particularly among participants aged ≥45-year (P<0.001). No other interactions were found to be significant (all P>0.05). CONCLUSIONS Medical researchers in China generally have a high level of knowledge and positive attitudes toward eIC, though concerns remain regarding data security and privacy. Future promotion of eIC in Chinese clinical research should be grounded in ethical considerations and address the specific needs of older users and mobile device users, while also enhancing researchers' competencies in using digital tools and eIC systems.
Humans ; Cross-Sectional Studies ; Informed Consent ; Surveys and Questionnaires ; Female ; Male ; Health Knowledge, Attitudes, Practice ; Adult ; Biomedical Research ; Research Personnel/psychology* ; Middle Aged ; China

OBJECTIVES: Most dermatological conditions fall under visible skin diseases (VSDs), where lesions are exposed and readily seen, increasing patients' risk of experiencing external stigma from the public and specific professional groups (e.g., service providers). This stigma imposes psychological and social burdens that far exceed the psychological symptoms of the disease. To date, no systematic research has been conducted in China specifically on the external stigma associated with VSDs. Taking psoriasis, vitiligo, and acne as representative conditions, this study aims to explore the external stigma experienced by VSD patients across various social settings and to provide a scientific foundation for the development of measurement tools, quantitative research, and targeted interventions. METHODS: A purposive sample of 23 outpatients diagnosed with psoriasis, acne, or vitiligo was recruited from the Xiangya Hospital Dermatology Clinic of Central South University between December 2023 and July 2024. In-depth qualitative interviews were conducted. Data were analyzed using Mayring's qualitative content analysis and thematic analysis. Reporting followed the Consolidated Criteria for Reporting Qualitative Research guidelines. The interviews focused on the experience of external stigma across different social settings. RESULTS: Patients with VSDs reported experiencing external stigma in various contexts including family, community, recreational service venues, healthcare institutions, and others. The main motivation behind stigmatizing behaviors was disease avoidance (e.g., fear of contagion, aversion, social distancing). Stigmatization in school settings was also reported by patients with all 3 types of VSDs. Psoriasis patients reported stigma across all examined scenarios, while vitiligo and acne patients reported stigma in only some contexts. CONCLUSIONS Patients with VSDs experience significant external stigma, with psoriasis patients facing a higher burden compared to those with vitiligo or acne. The predominant stigma-driving factor is the public's desire to avoid disease, which underscores the need for public education to correct misconceptions about VSDs. External stigma from family, school, social networks, healthcare providers, and structural stigma should be the focus of policy and intervention efforts aimed at protecting the rights and well-being of patients with VSDs.
Humans ; Social Stigma ; Female ; Male ; Qualitative Research ; Acne Vulgaris/psychology* ; Skin Diseases/psychology* ; Adult ; Psoriasis/psychology* ; Vitiligo/psychology* ; Middle Aged ; China ; Young Adult