ObjectiveTo explore the relationship between the core self-evaluations,copying style and learning engagement of college students.Methods 250 college students were asked to complete the core self-evaluations scale,copying style scale and learning engagement scale.ResultsBivariate correlations results indicated that there was significantly positive correlation between the core self-evaluations,copying style and learning engagement in college students( r=0.179 ～ 0.586,P＜ 0.05 ) ; core self-evaluations affected motivation indirectly by the copying style; core self-evaluations had a direct influence on vigor and absorption; core self-evaluations had a indirect influence on vigor and absorption.ConclusionCopying style was a full mediator of the relationship of the core self-evaluations and motivation,but copying style partially mediated the relationship of the core self-evaluations and vigor and absorption.

Objective: To analyze the burden indicators and trend predictions of eating disorders in Chinese adolescents aged 10-24 years from 1990 to 2019, so as to provide a reference for the prevention and control of eating disorders among adolescents. Methods: According to the latest data of the Global Burden of Disease Study(GBD) 2019 database classified by gender, age group and other indicators, the Joinpoint regression model and bayesian age period cohort model(BAPC) were used to analyze and predict the incidence rate, prevalence and disabilityadjusted life year (DALY) rate of eating disorders among Chinese adolescents aged 10 to 24 years old, and explore the trend of the disease burden of eating disorders in this population in the past three decades. Results: From 1990 to 2019, the overall crude incidence rate of eating disorders among adolescents in China increased from 278.93/105 to 422.27/105, and the crude incidence rate increased from 122.63/105 to 198.80/105, and the crude DALY rate increased from 26.67/105 to 43.50/105. In terms of gender, the standardized incidence rate, standardized prevalence rate and standardized DALY rate of eating disorders of boys and girls all showed an upward trend（boys：AAPC=1.52%，1.84%，1.86%，girls：AAPC=1.28%，1.74%，1.77%，P＜0.05）. The standardized incidence rate, standardized prevalence rate and standardized DALY rate of boys with eating disorders (54.97%, 68.88%, 69.75%) were higher than those of girls (44.26%, 64.48%, 65.56%), and the differences were statistically significant (χ2=201.45, 35.02, 34.55, P<0.05). In terms of age groups, the incidence rate of the 15-19yearold age group (524.10/105) was higher than that of other age groups (10-14yearold age:251.17/105, 20-24yearold age:476.49/105) (χ2=156.87, P<0.05), the prevalence rate of the 20-24yearold age group (278.67/105) and the DALY rate (60.83/105) were higher than those of other age groups (10-14yearold age:81.79/105,18.02/105, 15-19yearold age:221.81/105,48.59/105) (χ2=204.50,197.14, P<0.05). BAPC prediction model showed that in the future, the incidence rate of eating disorders among adolescents in China would still show an upward trend, but the prevalence rate and DALY rate would show a steady downward trend, which might reach 516.43/105, 188.41/105 and 41.23/105 respectively in 2030. Conclusions The burden of eating disorders among adolescents in China continues to increase, with boys and those aged 15-19 years being the key populations for prevention and treatment. All sectors of society should actively take relevant measures and pay attention to the prevention and treatment of adolescent eating disorders.

OBJECTIVE: To analyze the clinical phenotypes and genetic variants of a Chinese pedigree affected with Hereditary coagulation factor Ⅻ (FⅫ) deficiency. METHODS: A pedigree presented at the First Affiliated Hospital of Air Force Medical University on December 24,2021 was selected as the study subject. Activated partial thromboplastin time (APTT) and coagulation factor Ⅻ activity (FⅫ:C) were determine by a clotting method, and FⅫ antigen was detected with an ELISA assay. Following the extraction of genomic DNA, all exons and flanking regions of the F12 gene were subjected to Sanger sequencing. Clustalx-2.1-win, PROVEAN and Swiss-PDB Viewer software was used to analyze the conservation of amino acids at the variant sites, impact of of the variants on the amino acid substitutions and the protein structure. RESULTS: The APTT of the proband has prolonged to 70.2 s. Her FⅫ:C and FⅫ:Ag have decreased to 12% and 13%, respectively. DNA sequencing revealed that the proband has harbored c.346G>A (p.Gly97Ser) and c.1583C>A (p.Ser509Tyr) heterozygous compound missense variants in exons 5 and 13 of the F12 gene, respectively. Her father and sister were heterozygous carriers for the c.346G>A (p.Gly97Ser) variant, whilst her mother and brother were heterozygous for the c.1583C>A (p.Ser509Tyr) variant. CONCLUSION The c.346G>A (p.Gly97Ser) and c.1583C>A (p.Ser509Tyr) compound heterozygous variants of the F12 gene probably underlay the pathogenesis of hereditary coagulation FⅫ deficiency in this pedigree.
Humans ; Male ; Female ; Pedigree ; Factor XII/genetics* ; Mutation ; East Asian People ; Heterozygote ; Mothers ; Factor XII Deficiency/genetics*

Objective:To investigate the clinical characteristics and offer diagnostic and therapeutic approaches for adult-onset idiopathic hypogonadotropic hypogonadism(AIHH).Methods:Clinical, laboratory, and imaging data, as well as follow-up information, of three male patients diagnosed with AIHH at the Department of Endocrinology and Metabolism of Nanfang Hospital, Southern Medical University, were systematically reviewed and analyzed.Results:All three patients were male, with a median age of 39 years(range, 22 to 40). Two patients reported symptoms of enlarged breasts and reduced sexual function, while one case solely reported a decline in sexual function. Physical examination showed that the median length of the penis was 6 cm(range, 5 to 6 cm), and the bilateral testicular volume was 7.96 mL(4.70-8.82 mL). Basal hormone levels at the time of initial visit to our hospital as follows: the median testosterone level was 0.32 ng/mL(0.24-2.96 ng/mL), median follicle stimulating hormone(FSH) level was 0.56 mIU/mL(0.1-0.75 mIU/mL), and the median luteinizing hormone(LH) level was 0.69 mIU/mL(0.1-1.03 mIU/mL). The levels of other hormones secreted by the anterior pituitary gland were normal. Hypothalamic-pituitary magnetic resonance imaging(MRI) showed that 1 patient had a pituitary microadenoma. Three patients were treated with pulsatile GnRH or gonadotropins, one of which had hypothalamic-pituitary-gonadal(HPG) axis function reversal after GnRH pulse pump therapy and lasted for 1 year, but then still had irreversible reduction.Conclusion:AIHH is marked by adult-onset disease and idiopathic hypogonadism. Enhancing fertility remains a critical requirement for these patients. Pulsatile GnRH treatment or gonadotropin therapy, as viable treatments, exhibit therapeutic effects, albeit with occasional fluctuations. Therefore, the emphasis lies in the timely consideration of fertility preservation.

Objective:Based on the data compilation and analysis of the disease burden of esophageal cancer attributed to alcohol consumption in China over the past three decades(1990-2019),this study aims to explore how to strengthen the formulation and management of public health policies to control the disease burden caused by this disease. Methods:Based on the data from the Global Burden of Disease(GBD)2019 study database,indicators such as mortality rate and disability-adjusted life years(DALYs)were used to assess the disease burden of esophageal cancer attributed to alcohol consumption in China.Joinpoint regression software and the age-period-cohort model were employed to analyze the trends in disease burden and mortality rates over time by age,period,and cohort.Bayesian age-period-cohort analysis was used to predict the mortality rates of esophageal cancer attributed to alcohol consumption in China from 2020 to 2030. Results:From 1990 to 2019,the number of deaths from esophageal cancer attributed to alcohol consumption increased from 33 800 cases to 61 900 cases,while the standardized mortality rate decreased from 3.95 per 100 000 to 3.04 per 100 000.DALYs increased from 934 000 person-years to 1 512 600 person-years,and the DALYs rate decreased from 101.36 per 100 000 to 71.39 per 100 000.In 2019,both the number of deaths and DALYs reached their peak in the age group of 65-69 years with 58 800 deaths and a standardized mortality rate of 6.21 per 100 000 for males,and 3 100 deaths and a standardized mortality rate of 0.31 per 100 000 for females.Both the mortality rates and the DALYs rates increased with age.The Joinpoint regression analysis showed that the average annual percentage change(AAPC)of mortality rates attributed to alcohol consumption-related esophageal cancer was-0.97%[95%confidence interval(CI):-1.2%--0.8%],with an AAPC of-2.32%(95%CI:-2.6%--2.1%)for females and-0.81%(95%CI:-1.0%-0.6%)for males.The age-period-cohort analysis of mortality rates attributed to alcohol consumption-related esophageal cancer showed a net drift of-1.301%(95%CI:-1.577%--1.025%,P＜0.05).It is predicted that the burden of esophageal cancer mortality attributed to alcohol consumption will steadily increase during the period of 2020-2030. Conclusion:Compared to the overall trend of esophageal cancer burden,the burden of esophageal cancer attributed to alcohol consumption is declining at a slower rate.The burden of the disease is higher in the male population than that in females,and higher in the middle-aged and elderly population compared to the younger population.It is expected that in the coming years,the burden of esophageal cancer mortality attributed to alcohol consumption in China will steadily increase,suggesting that while focusing on the intervention for males and the middle-aged and elderly population,relevant departments should also strengthen health education in the entire population,formulate public health policies,and raise awareness of early prevention and risk factors of esophageal cancer among residents.

Objective:To compare the results of invasive prenatal diagnosis and preimplantation genetic testing (PGT) and explore the underlying mechanism.Methods:Clinical data of pregnant women undergoing PGT and invasive prenatal diagnosis at the Sixth Affiliated Hospital of Sun Yat-sen University from January 2019 to December 2022 were collected. The results of PGT and invasive prenatal diagnosis were compared, and the outcomes of pregnancies were followed up. This study has been approved by the Medical Ethics Committee of the the Sixth Affiliated Hospital of Sun Yat-sen University (No. 2022SLYEC-491).Results:A total of 172 couples were included in this study, and 26 non-targeted variants were discovered upon prenatal diagnosis, including 10 cases (38.5%) by chromosomal karyotyping, 15 (57.7%) by chromosomal microarray analysis (CMA), and 1 (3.8%) by whole exome sequencing. The 10 karyotypic anomalies had included 6 chromosomal polymorphisms, 2 chromosomal mosaicisms, 1 paternally derived translocation, and 1 missed maternal chromosomal inversion. CMA has identified 15 copy number variations (CNVs), which included 11 microdeletions and microduplications, 3 loss of heterozygosity, and 1 low-level mosaicism of paternal uniparental disomy. One CNV was classified as pathogenic, and another one was likely pathogenic, whilst the remaining 13 were classified as variants of uncertain significance. Therefore, 8.7% of CNVs was detected by invasive prenatal diagnosis after PGT. 92.3% (24/26) of the non-targeted variants have been due to technological limitations of next-generation sequencing (NGS).Conclusion:Invasive prenatal diagnosis after PGT can detect non-targeted variants, which may further reduce the incidence of birth defects.

Complete androgen insensitivity syndrome(CAIS) is characterized by lack of androgen response in target organs due to androgen receptor dysfunction, resulting in feminized external genitalia. Individuals with CAIS are typically advised to live as females. This article reports a patient diagnosed with CAIS and gender dysphoria in adulthood. Following the removal of a left pelvic mass, pathology indicated cryptorchidism with a concurrent Leydig cell tumor. Genetic testing revealed a deletion mutation in exon 3 of androgen receptor gene. During follow-up, the patient underwent gender reassignment, transitioning socially from female to male. This case provides new insights into gender allocation for CAIS patients.