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

Hearing loss is the most prevalent disabling disease. Cochlear implantation（CI） serves as the primary intervention for severe to profound hearing loss. This consensus systematically explores the value of genetic diagnosis in the pre-operative assessment and efficacy prognosis for CI. Drawing upon domestic and international research and clinical experience, it proposes an evidence-based medicine three-tiered prognostic classification system（Favorable, Marginal, Poor）. The consensus focuses on common hereditary non-syndromic hearing loss（such as that caused by mutations in genes like GJB2, SLC26A4, OTOF, LOXHD1） and syndromic hereditary hearing loss（such as Jervell & Lange-Nielsen syndrome and Waardenburg syndrome）, which are closely associated with congenital hearing loss, analyzing the impact of their pathological mechanisms on CI outcomes. The consensus provides recommendations based on multiple round of expert discussion and voting. It emphasizes that genetic diagnosis can optimize patient selection, predict prognosis, guide post-operative rehabilitation, offer stratified management strategies for patients with different genotypes, and advance the application of precision medicine in the field of CI.
Humans ; Cochlear Implantation ; Prognosis ; Hearing Loss/surgery* ; Consensus ; Connexin 26 ; Mutation ; Sulfate Transporters ; Connexins/genetics*

Objectives:To explore the trends of cardiovascular disease(CVD)burden in China from 1990 to 2021 and to provide a basis for the scientific development of corresponding preventive and curative measures.Methods:Based on the Global Burden of Disease(GBD)2021 database,we conducted descriptive analyses of age-standardized incidence rate(ASIR),age-standardized prevalence rate(ASPR),disability-adjusted life years(DALY)and other indicators of CVD in China.Indicators were descriptively analysed,trends in CVD burden were analysed using the Joinpoint regression model,the burden of CVD was decomposed according to demographic,ageing and epidemiological changes,and changes in the burden of CVD in 2040 were predicted using the Bayesian age-period-cohort(BAPC)model.Results:In 2021,the ASIR,ASPR,DALY and DALY rates of CVD in China were 811.81 per 100 000,6 603.72 per 100 000,100.2087 million person-years and 5 120.06 per 100 000,respectively.Compared to 1990,the ASIR,ASPR,and DALYs increased by 3.56%,9.62%,and 58.42%,respectively,while the DALYs rate decreased by 36.59%.Additionally,the burden of CVD was higher in males than in females;the ASIR increased rapidly for the first time in 1995-2005,the ASPR increased rapidly from 2000 to 2004,and the DALYs rate increased rapidly from 2000 to 2004,and DALYs rates were generally on a downward trend,but showed a rapid upward trend in 1998-2004.Population growth and aging are the main factors leading to changes in DALYs,43.73%and 172.31%,respectively;in 2021,hypertension and environmental particulate matter are the top two risk factors for CVD in China;projections show that the number of CVD incidence,disease,and cases of DALYs in China in 2040 will be 28.7901 million,226.6148 million,and 169.4057 million person-years,respectively,and the number of cases is on the upward trend.Conclusions:The burden of CVD in China increased overall from 1990 to 2021,and the burden was higher in men than in women,mainly due to population growth,aging,and risk factors.High systolic blood pressure remains the main cause of CVD.

Objective:To develop the Body Image Flexibility Questionnaire for Middle School Students(BIFQ-MS)and test its validity and reliability.Methods:Firstly,the initial questionnaire was developed based on the hexaflex model of psychological flexibility.Secondly,701 middle school students were selected to complete the initial questionnaire for item analysis and exploratory factor analysis.Thirdly,899 middle school students were ex-amined to conduct confirmatory factor analysis,criterion-related validity and internal consistency tests on the formal questionnaire.The Body Image-Acceptance and Action Questionnaire(BI-AAQ),Avoidance and Fusion Question-naire for Youth(AFQ-Y8),Body Areas Satisfaction Scale(BASS),and General Appearance subscale of the Nega-tive Physical Self Scale(NPSS-GA)were used to test criterion validity.In addition,88 middle school students were retested 4 weeks later.Results:The BIFQ-MS consisted of 26 items,including 4 factors(openness to experience,self-as-context,contact with the present moment,and valued action),which explained 65.55％of the total vari-ance.Confirmatory factor analysis showed that the four-factor structural model fitted well(x2/df=2.26,CFI=0.97,TLI=0.97,RMSEA=0.04,SRMR=0.03).The BIFQ-MS total scores and the scores of each factor were positively correlated with the scores of the BI-AAQ and the BASS(r=0.41-0.50,Ps＜0.01),whereas they were negatively correlated with the scores of the NPSS-GA and the AFQ-Y8(r=-0.28--0.58,Ps＜0.01).The Cronbach's α coefficients of the total questionnaire and the 4 factors ranged from 0.91 to 0.97,and the test-retest reliabilities(ICC)ranged from 0.70 to 0.86.Conclusion:The Body Image Flexibility Questionnaire for Middle School Students is a reliable tool for understanding body image flexibility in adolescents.

Gastrointestinal tumors （GTs）， including colorectal cancer， gastric cancer， liver cancer， pancreatic cancer， and esophageal cancer， are increasing in incidence worldwide and have become one of the major diseases threatening human health. Tumor stem cells （TSCs）， an undifferentiated subpopulation within tumor tissues， possess biological characteristics such as self-renewal， multidirectional differentiation， high tumorigenicity， and resistance to radiochemotherapy. They play an important role in the occurrence， progression， recurrence， and metastasis of GTs and have increasingly become a research hotspot in GT treatment. Although modern medicine has made remarkable progress， there remain many problems in therapeutic approaches targeting TSCs. In this context， traditional Chinese medicine （TCM）， with its favorable safety profile and multi-target mechanisms， has shown potential advantages and value in regulating TSCs. It can reduce TSC drug resistance， enhance the sensitivity of tumor cells to chemotherapeutic agents， inhibit tumor growth and metastasis， and has shown unique advantages in improving the quality of life and prolonging the survival of GT patients. Studies have found that active components of Chinese medicine， such as terpenoids， polyphenols， flavonoids， glycosides， and quinones， and Chinese medicine compound formulas， including Zuojin pills， Sijunzi decoction， Biejiajian pills， and Xuanfu Daizhe decoction， can inhibit TSCs-related signaling pathways such as the Notch signaling pathway， the Wnt/β-catenin signaling pathway， the phosphatidylinositol 3-kinase/protein kinase B （PI3K/Akt） signaling pathway， and the Hippo signaling pathway. They also reduce the expression of TSC surface markers， including sex-determining region Y-box 2 （SOX2）， sex-determining region Y-box 9 （SOX9）， octamer-binding transcription factor 4 （OCT4）， prominin-1 （CD133）， cluster of differentiation 44 （CD44）， cluster of differentiation 24 （CD24）， and thyroid transmembrane protein 1 （CD90）， thereby hindering TSC differentiation， accelerating their metabolic processes， improving the tumor microenvironment， and consequently inhibiting GT growth. This study collects and analyzes recent research on the regulation of TSCs by TCM in the treatment of GT， aiming to provide a new theoretical basis for tumor therapy with TCM， expand its application in the comprehensive treatment of GT， and offer new therapeutic ideas and methods for clinical practice.

Objective:To investigate the efficacy of self-prescribed Huoxue Shengjing Prescription as adjuvant therapy for varicocele-induced infertility and its impact on the outcomes of in vitro fertilization-embryo transfer/intracytoplasmic sperm injection (IVF-ET/ICSI).Methods:A randomized controlled trial was conducted. A total of 99 patients with varicocele-induced infertility in our hospital from January 2022 to July 2023 were selected as observation subjects and divided into three groups using a random number table method, with 33 patients in each group. The low ligation group received low ligation of varicocele under a microscope, the low ligation + conventional Western medicine treatment group received low ligation + conventional Western medicine therapy, and the combined group received low ligation + conventional Western medicine therapy + a self-prescribed Huoxue Shengjing Prescription. Among them, the low ligation of varicocele under a microscope was followed by IVF-ET/ICSI assisted reproductive technology 3 months after surgery; the conventional Western medicine therapy involved continuous administration of L-carnitine oral solution for 3 months; the self-prescribed Huoxue Shengjing Prescription was started on the first day after surgery and continued for 3 months. TCM syndrome scores were assessed before and after treatment, and semen routine analysis was performed using an automated semen quality analyzer. Mitochondrial activity of granulosa cells was measured using the Hrudka extraction method, and sperm nuclear DNA integrity was assessed using a modified alkaline single-cell gel electrophoresis method. Follow-up was conducted for 1 year to observe and record the outcomes of IVF-ET/ICSI and evaluate the clinical efficacy.Results:The total effective rate was 93.9% (31/33) in the combined group, 69.7% (23/33) in the low ligation group, and 75.8% (25/33) in the low ligation + conventional Western medicine treatment group, with statistical significance ( χ 2=6.52, P=0.039). After treatment, the scores for mild abdominal pain, testicular heavy pain, impotence, mental fatigue, and the total score in the combined group were lower than those in the low ligation + conventional Western medicine treatment group and the low ligation group ( F values were 89.29, 97.51, 136.36, 155.06, and 311.13, respectively, P<0.001). The sperm survival rate, sperm concentration, normal morphology rate, and progressive motility rate in the combined group were higher than those in the low ligation + conventional Western medicine treatment group and the low ligation group ( F values were 19.23, 11.85, 35.97, and 52.21, respectively, P<0.001). Mitochondrial grade I cell activity of granulosa cells was higher than that of the low ligation + conventional treatment group and low ligation group ( F=23.23, P<0.001), and grade Ⅲ cell activity was lower than that of the low ligation + conventional treatment group and low ligation group ( F=20.28, P<0.001). After treatment, the detection of grade Ⅰ and Ⅱ sperm nuclear DNA integrity in the combined group were higher than those in the low ligation + conventional Western medicine treatment group and the low ligation group ( F values were 17.73 and 18.39, respectively, P<0.001), while grades Ⅲ and Ⅳ were lower than those in the low ligation + conventional Western medicine treatment group and the low ligation group ( F values were 29.07 and 10.36, respectively, P<0.001). During follow-up, the excellent embryo rate and the spouse's clinical pregnancy rate in the combined group were higher than those in the low ligation + conventional Western medicine treatment group and the low ligation group ( χ2 values were 14.92 and 8.38, respectively; P values were 0.001 and 0.015, respectively). Conclusion:The adjuvant treatment with a self-prescribed Huoxue Shengjing Prescription can enhance sperm quality in patients with varicocele-related infertility, maintain DNA integrity, regulate seminal plasma mitochondrial function, increase the rate of high-quality embryos, and improve the spouse's pregnancy outcomes.

With the increasing incidence and mortality of malignant tumors year by year， the prevention and treatment of malignant tumors has become a hot field of research. Although the existing anti-tumor treatment methods such as surgery， radiotherapy， chemotherapy， immunity and targeting have achieved some results， there are also obvious shortcomings， which are not conducive to the improvement of patients' quality of life and long-term treatment. Therefore， seeking a new efficient and safe treatment has become a hot topic of concern for many oncologists. adenosine monophosphate activated protein kinase（AMPK）/mammalian target of rapamycin（mTOR） signaling pathway can participate in intracellular energy metabolism and affect the pathogenesis and outcome of tumors through multiple mechanisms. It is widely mentioned in the occurrence and development of many tumors. The activity level of this pathway is closely related to the abnormal proliferation and invasion of tumor cells， and is considered as an important pathway for anti-tumor therapy research. The anti-tumor treatment of traditional Chinese medicine（TCM） has significant advantages such as syndrome differentiation and treatment and sample consideration. The study found that flavonoids， alkaloids， polyphenols， saponins and other active components of traditional Chinese medicine， as well as the traditional Chinese medicine compound Xiangbei San， Yiqi Fuzheng Jiedu decoction， Yiqi Fuzheng prescription， etc can activate the AMPK/ mTOR signaling pathway by regulating the expression of AMPK/mTOR signaling pathway and upstream and downstream proteins， thereby inducing tumor cell autophagy and apoptosis， inhibiting tumor angiogenesis and epithelial mesenchymal transformation， regulating aerobic glycolysis and energy metabolism， and reversing drug resistance to exert anti-tumor effects. In this paper， by summarizing the research achievements of TCM anti-tumor in recent years， the specific mechanism of action of TCM regulating AMPK/ mTOR signaling pathway against tumor was discussed， aiming to provide ideas and references for the research and development of anti-tumor new drugs.

Objective:To develop the Body Image Flexibility Questionnaire for Middle School Students(BIFQ-MS)and test its validity and reliability.Methods:Firstly,the initial questionnaire was developed based on the hexaflex model of psychological flexibility.Secondly,701 middle school students were selected to complete the initial questionnaire for item analysis and exploratory factor analysis.Thirdly,899 middle school students were ex-amined to conduct confirmatory factor analysis,criterion-related validity and internal consistency tests on the formal questionnaire.The Body Image-Acceptance and Action Questionnaire(BI-AAQ),Avoidance and Fusion Question-naire for Youth(AFQ-Y8),Body Areas Satisfaction Scale(BASS),and General Appearance subscale of the Nega-tive Physical Self Scale(NPSS-GA)were used to test criterion validity.In addition,88 middle school students were retested 4 weeks later.Results:The BIFQ-MS consisted of 26 items,including 4 factors(openness to experience,self-as-context,contact with the present moment,and valued action),which explained 65.55％of the total vari-ance.Confirmatory factor analysis showed that the four-factor structural model fitted well(x2/df=2.26,CFI=0.97,TLI=0.97,RMSEA=0.04,SRMR=0.03).The BIFQ-MS total scores and the scores of each factor were positively correlated with the scores of the BI-AAQ and the BASS(r=0.41-0.50,Ps＜0.01),whereas they were negatively correlated with the scores of the NPSS-GA and the AFQ-Y8(r=-0.28--0.58,Ps＜0.01).The Cronbach's α coefficients of the total questionnaire and the 4 factors ranged from 0.91 to 0.97,and the test-retest reliabilities(ICC)ranged from 0.70 to 0.86.Conclusion:The Body Image Flexibility Questionnaire for Middle School Students is a reliable tool for understanding body image flexibility in adolescents.

Objectives:To explore the trends of cardiovascular disease(CVD)burden in China from 1990 to 2021 and to provide a basis for the scientific development of corresponding preventive and curative measures.Methods:Based on the Global Burden of Disease(GBD)2021 database,we conducted descriptive analyses of age-standardized incidence rate(ASIR),age-standardized prevalence rate(ASPR),disability-adjusted life years(DALY)and other indicators of CVD in China.Indicators were descriptively analysed,trends in CVD burden were analysed using the Joinpoint regression model,the burden of CVD was decomposed according to demographic,ageing and epidemiological changes,and changes in the burden of CVD in 2040 were predicted using the Bayesian age-period-cohort(BAPC)model.Results:In 2021,the ASIR,ASPR,DALY and DALY rates of CVD in China were 811.81 per 100 000,6 603.72 per 100 000,100.2087 million person-years and 5 120.06 per 100 000,respectively.Compared to 1990,the ASIR,ASPR,and DALYs increased by 3.56%,9.62%,and 58.42%,respectively,while the DALYs rate decreased by 36.59%.Additionally,the burden of CVD was higher in males than in females;the ASIR increased rapidly for the first time in 1995-2005,the ASPR increased rapidly from 2000 to 2004,and the DALYs rate increased rapidly from 2000 to 2004,and DALYs rates were generally on a downward trend,but showed a rapid upward trend in 1998-2004.Population growth and aging are the main factors leading to changes in DALYs,43.73%and 172.31%,respectively;in 2021,hypertension and environmental particulate matter are the top two risk factors for CVD in China;projections show that the number of CVD incidence,disease,and cases of DALYs in China in 2040 will be 28.7901 million,226.6148 million,and 169.4057 million person-years,respectively,and the number of cases is on the upward trend.Conclusions:The burden of CVD in China increased overall from 1990 to 2021,and the burden was higher in men than in women,mainly due to population growth,aging,and risk factors.High systolic blood pressure remains the main cause of CVD.

Cardiovascular disease(CVD)is the leading cause of death in humans and has received widespread attention.The clinical indicators for predicting the risk of CVD occurrence and development are expensive and difficult to popularize in grassroots areas.Triglyceride glucose(TyG)index,as an alternative biomarker for insulin resistance,can predict the risk of CVD.The clinical TyG index is easy to obtain and is gradually receiving attention.This article reviews the research progress on the correlation between TyG index and CVD risk.