Objective:To analyze the clinical, genetic mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis (HH) in China.Methods:Peripheral blood samples and clinical data of patients with primary iron overload were collected through the China Registry of Genetic/Metabolic Liver Disease from June 2015 to November 2023. HH-related genes were detected by Sanger sequencing. Clinical characteristics and gene mutation characteristics of HH patients carrying HJV gene mutations were analyzed.Results:Among the 37 cases with primary iron overload, ten cases (27.0%, 10/37) had detectable HJV gene mutations, which included four homozygous mutations, five compound heterozygous mutations, and one monoheterozygous mutation. p.Q6H and p.C321X (80.0%, 8/10) were the most common mutated sites. The average age of onset was 30.7±14.7 years. The age of diagnosis was 35.7±16.2 years, with male-to-female ratio of 7:3. Ferritin and transferrin saturation were (5 267±905) ng/ml, and 94.3%±1.2%, respectively. Magnetic resonance imaging showed iron overload in the liver, pancreas, and myocardium. Liver biopsy showed diffuse iron deposition within hepatocytes. All ten cases had elevated transaminases; one case (1/10, 10.0%) had liver cirrhosis; four cases (4/10, 40.0%) had heart failure and arrhythmia; five cases (5/10, 50.0%) had diabetes; six cases (6/10, 60.0%) had hypogonadism; six cases (6/10, 60.0%) had skin pigmentation; and six cases (6/10, 60.0%) had fatigue symptoms. All six cases underwent bloodletting therapy, and ferritin levels dropped to about 100 ng/ml. Two cases of oral administration of the iron chelator deferasirox did not meet the ferritin level standard, and one case died from acute heart failure following a confirmed diagnosis during hospitalization.Conclusion:The HJV gene may be one of the main pathogenic genes of HH in China. The p.Q6H and p.C321X mutations were one of the hotspot mutations. The onset age of HJV gene-related HH was between 20 and 30 years old, and their condition was severe. Therefore, early bloodletting treatment can have a favorable outcome.

【Objective】 To explore the value of thrombelastogram(TEG) on monitoring the coagulation function and guiding blood transfusion in admitted patients in early stage of severe trauma. 【Methods】 A total of 96 patients in early stage of severe trauma were selected from Ezhou Central Hospital, and were divided into two groups using a random number table method, with 48 patients in each group. The control group was guided by four routine coagulation tests for blood transfusion, while the observation group was guided by TEG.The detection rate of trauma-induced coagulopathy, detection duration, blood infusion volume within 24 hours of admission, coagulation index levels at different time points after blood transfusion, length of hospital stay, ICU stay, and mortality rate between the two groups were compared. 【Results】 The detection rate of trauma-induced coagulopathy was 72.9% in the control group and 93.8% in the observation group(P<0.05). The transfusion volume of fresh frozen plasma (U) and red blood cell (U) in the observation group within 24 hours of admission were significantly lower than those in the control group, which were (35.13±4.75) vs (45.17±6.54), (5.19±1.41) vs (7.08±1.32) (P<0.05); the tranfusion volume of cryoprecipitate (U) and the rate of platelet transfusion in the observation group were significantly higher than those in the control group, which were (36.78±2.49) vs (24.84±3.92), 79.2% vs 22.9%(P<0.05). The APTT(s), PT(s), TT(s), R(min), and K(min) in the observation group 8 hours after blood transfusion were significantly lower than those in the control group, which were (58.16±10.39) vs (70.83±14.99), (15.44±3.22) vs (17.32±2.89), (21.39±4.51) vs (25.18±4.73), (13.03±3.29) vs (14.95±4.57), and (8.07±3.65) vs (10.54±5.14) (P<0.05), while FIB(g/L), MA(mm), α(°), and Plt (×10⁹/L) were higher than those in the control group, which were (2.02±0.46) vs (1.09±0.27), (35.56±11.88) vs (29.57±9.25), (40.07±13.34) vs (27.23±10.87), and (135.87±59.13) vs (108.17±52.08) (P<0.05). 【Conclusion】 TEG can help monitoring the coagulation function in patients in early stage of severe trauma and guide the blood transfusion.

Objective:To explore the effectiveness, safety and cost between urinary follicle stimulating hormone (uFSH) and recombinant follicle stimulating hormone (rFSH) in controlled ovarian stimulation (COS) in China.Methods:Data were collected from 16 reproductive centers in China covering oocytes collection time from May 1, 2015 to June 30, 2018. Eligible patients were over 18 years old, adopting COS with uFSH (uFSH group) or rFSH (rFSH group) as start gonadotropins (Gn), and using in vitro fertilization (IVF) and (or) intracytoplasmic sperm injection for fertilisation, excluding frozen embryo recovery cycle. Generalised estimating equation was used to address the violation of independency assumption between cycles due to multiple IVF cycles for one person and clustering nature of cycles carried out within one center. Controlling variables included age, body mass index, anti-Müllerian hormone level, cause of infertility, ovulation protocol, type of fertilisation, number of embryos transferred, number of days of Gn use.Results:Totally 102 061 cycles met eligibility criteria and were included in the analyses. In terms of effectiveness, after controlling relevant unbalanced baseline characteristics, compared with rFSH group, the high oocyte retrieval (>15 oocytes was considered high retrieval) rate of uFSH group significantly decreased in gonadotropin-releasing hormone agonist protocol ( OR=0.642, P<0.01) and in gonadotropin-releasing hormone antagonist protocol ( OR=0.556, P=0.001), but the clinical pregnancy rate per transfer cycle and the live birth rate per transfer cycle significantly increased ( OR=1.179, OR=1.169, both P<0.01) in both agonist and antagonist protocols. For safety, multiple analysis result demonstrated that in the agonist protocol, compared with rFSH group, the incidence of moderate to severe ovarian hyperstimulation syndrome of uFSH group significantly decreased ( OR=0.644, P=0.002). The differences in ectopic pregnancy rate and multiple pregnancy rate between the uFSH and rFSH groups were not significant ( P=0.890, P=0.470) in all patients. In terms of cost, compared with rFSH group, the uFSH group had lower total Gn costs for each patient ( P<0.01). Conclusion:For patients who underwent COS, uFSH has better safety, and economic profiles over rFSH in China.

Lycophytes and seed plants constitute the typical vascular plants. Lycophytes have been thought to have no paleo-polyploidization although the event is known to be critical for the fast expansion of seed plants. Here, genomic analyses including the homologous gene dot plot analysis detected multiple paleo-polyploidization events, with one occurring approximately 13-15 million years ago (MYA) and another about 125-142 MYA, during the evolution of the genome of Selaginella moellendorffii, a model lycophyte. In addition, comparative analysis of reconstructed ancestral genomes of lycophytes and angiosperms suggested that lycophytes were affected by more paleo-polyploidization events than seed plants. Results from the present genomic analyses indicate that paleo-polyploidization has contributed to the successful establishment of both lineages-lycophytes and seed plants-of vascular plants.
Evolution, Molecular ; Genome, Plant ; Genomics ; Phylogeny ; Polyploidy ; Selaginellaceae/genetics*

Objective: To investigate the relationship of sleep duration and sleep quality with anxiety in the elderly aged 60 years and older in China. Methods: The elderly aged 60 years and older were selected from the China Short-term Health Effects of Air Pollution Study conducted between July 18, 2017 and February 7, 2018. Multivariate logistic regression models were used to analyze the association of sleep duration and sleep quality with anxiety. Results: A total of 3 897 elderly aged 60 years and older were included in the study. The age of the elderly was (73.4±8.0) years old. Among the elderly surveyed, 6.5% were defined with anxiety, and 18.7% reported poor sleep quality. Multivariate logistic regression models showed shorter sleep duration was the risk factor for anxiety in the elderly that after adjusting for factors such as general demographics, socioeconomic factors, lifestyle, health status, social support and ambient fine particulates exposure. Compared with the elderly with 7 hours of sleep duration daily, the OR (95%CI) of anxiety for those with sleep duration ≤ 6 hours was 2.09 (1.49-2.93). Compared with those with good sleep quality, the OR (95%CI) of anxiety for those with poor sleep quality was 5.12 (3.88-6.77). We also found statistically significant correlations of the scores of subscales of Pittsburgh sleep quality index with anxiety, in which the effects of sleep disturbance, subjective sleep quality and daytime dysfunction scores were most obvious, the ORs (95%CI) were 4.63 (3.55-6.04), 2.75 (2.33-3.23) and 2.50 (2.19-2.86), respectively. Subgroup analysis showed that the association of sleep duration and sleep quality with anxiety was more obvious in males and in those aged <80 years. Conclusion Shorter sleep duration and poor sleep quality are associated with anxiety in the elderly in China.

Objective: To analyze influencing factors for depressive symptoms in the elderly aged 65 years and older in 8 longevity areas in China. Methods: We recruited 2 180 participants aged 65 years and older in 8 longevity areas from Healthy Aging and Biomarkers Cohort Study, a sub-cohort of the Chinese Longitudinal Healthy Longevity Survey in 2017. Multivariate logistic regression analysis was performed to evaluate the relationships of socio-demographic characteristics, behavioral lifestyle, chronic disease prevalence, functional status, family and social support with depressive symptoms in the elderly. Results: The detection rate of depression symptoms was 15.0% in the elderly aged 65 years and older in 8 longevity areas of China, and the detection rate of depression symptoms was 11.5% in men and 18.5% in women. Multivariate logistic regression analysis results showed that the detection rate of depressive symptoms was lower in the elderly who had regular physical exercises (OR=0.44, 95%CI: 0.26-0.74), frequent fish intakes (OR=0.57, 95%CI: 0.39-0.83), recreational activities (OR=0.65, 95%CI: 0.44-0.96), social activities (OR=0.28, 95%CI: 0.11-0.73) and community services (OR=0.68, 95%CI: 0.50-0.93). The elderly who were lack of sleep (OR=2.04, 95%CI: 1.49-2.80), had visual impairment (OR=1.54, 95%CI: 1.08-2.18), had gastrointestinal ulcer (OR=2.97, 95%CI: 1.53-5.77), had arthritis (OR=2.63, 95%CI: 1.61-4.32), had higher family expenditure than income (OR=1.80, 95%CI: 1.17-2.78) and were in poor economic condition (OR=4.58, 95%CI: 2.48-8.47) had higher detection rate of depressive symptoms. Conclusion The status of doing physical exercise, fish intake in diet, social activity participation, sleep quality or vision, and the prevalence of gastrointestinal ulcers and arthritis were associated with the detection rate of depressive symptoms in the elderly.

Objective: To establish a prediction model for 6-year incidence risk of chronic kidney disease (CKD) in the elderly aged 65 years and older in China. Methods: In this prospective cohort study, we used the data of 3 742 participants collected during 2008/2009-2014 and during 2012-2017/2018 from Healthy Aging and Biomarkers Cohort Study, a sub-cohort of the Chinese Longitudinal Healthy Longevity Survey. Two follow up surveys for renal function were successfully conducted for 1 055 participants without CKD in baseline survey. Lasso method was used for the selection of risk factors. The risk prediction model of CKD was established by using Cox proportional hazards regression models and visualized through nomogram tool. Bootstrap method (1 000 resample) was used for internal validation, and the performance of the model was assessed by C-index and calibration curve. Results: The mean age of participants was (80.8±11.4) years. In 4 797 person years of follow up, CKD was found in 262 participants (24.8%). Age, BMI, sex, education level, marital status, having retirement pension or insurance, hypertension prevalence, blood uric acid, blood urea nitrogen and total cholesterol levels and estimated glomerular filtration rate in baseline survey were used in the model to predict the 6-year incidence risk of CKD in the elderly. The corrected C-index was 0.766, the calibration curve showed good consistence between predicted probability and observed probability in high risk group, but relatively poor consistence in low risk group. Conclusion The incidence risk prediction model of CKD established in this study has a good performance, and the nomogram can be used as visualization tool to predict the 6-year risk of CKD in the elderly aged 65 years and older in China.

Objective:To analyze the etiological spatialtemporal distribution characteristics of coxsackievirus A16 (CoxA16) and enterovirus 71 (EV71) in children with hand, foot, and mouth disease (HFMD) in Dali Bai Autonomous Prefecture, and to provide references for its prevention and control.Methods:Real-time polymerase chain reaction(PCR) was used to detect the etiology of children with HFMD in Dali Bai Autonomous Prefecture from January 1, 2013 to December 31, 2018, including CoxA16 and EV71. Spatialtemporal correlation analysis of CoxA16 and EV71 were performed by ArcGIS 10 and SaTScanv 9.6 softwares.Results:Among 3 527 pathogen samples, EV71 was dominant with 12.0%(91/758) in 2013, 40.4%(180/446) in 2014, and 26.7%(155/581) in 2017. CoxA16 was the dominant pathogen with 29.9%(162/541) in 2015, 40.0%(219/547) in 2016, and 13.8%(90/654) in 2018. According to the pathogen detection data from 2013 to 2018, the detection rate of CoxA16 pathogen was higher than that of EV71 ( χ2=1 128.72, P<0.05). CoxA16 and EV71 were aggregated from summer to autumn. CoxA16 was presented with clustered distribution ( Moran′ s index=0.344, P<0.05), and the hot spots of CoxA16 were Xiangyun County ( Z=2.72, P<0.01) and Midu County ( Z=1.68, P<0.1). The radius radiates was 39.00 km from the center of Xiangyun County (log likelihood ratio ( LLR)=40.178, P<0.05). EV71 was presented with discretely distribution ( Moran′ s index=-0.194, P>0.05), and the hot spots of EV71 were Heqing County ( Z=2.14, P<0.05), Jianchuan County ( Z=1.76, P<0.1) and Dali City ( Z=1.71, P<0.1). The main gathering area was the radiation radius of 64.21 km centered of Eryuan County ( LLR=39.376, P<0.05). Conclusions:There are spatiotemporal aggregations of CoxA16 and EV71 in childhood cases with HFMD. The monitoring should be strengthened, and the disease should be scientifically prevented and controlled.

Objective To investigate the relationship of plasma albumin and hypersensitive C?reactive protein (Hs?CRP) with 5?year all?cause mortality among Chinese older adults aged 65 and older. Method Data was collected in 8 longevity areas of the Chinese Longitudinal Healthy Longevity Survey (CLHLS) study conducted by Chinese Center for Disease Control and Prevention and Peking University at baseline survey in 2012 and 2014, the participants enrolled in 2012 was followed?up in 2014 and 2017, the participants enrolled in 2014 was followed?up in 2017 only. Finally, 3 118 older adults aged 65 and older with complete information on albumin, Hs?CRP and body mass index (BMI) were included in this study. Plasma samples of older adults were collected for the detection of albumin and Hs?CRP at baseline survey. Survival status and follow?up time was recorded for all participants. All older adults were divided into 4 groups according to the levels of plasma albumin and Hs?CRP, and Cox proportional hazard models were constructed to assess their influence on the risk of all?cause mortality. Results Among 3 118 older adults included, the prevalence of hypoalbuminemia was 10.1% (316/3 118), and was 22.8% (711/3 118) for elevated Hs?CRP. During 10 132 person?years of follow?up, 1 212 participants died. Participants with hypoalbuminemia had increased risk of all?cause mortality, with an hazard ratio (HR) and 95% confidential interval (CI) of 1.18 (1.01-1.38), compared to participants with normal plasma albuminemia; participants with elevated Hs?CRP had increased risk of all?cause mortality, with an HR (95%CI) of 1.18 (1.04-1.35), compared to participants with normal plasma Hs?CRP. Participants with normal plasma albumin and elevated Hs?CRP, with hypoalbuminemia and normal Hs?CRP, with hypoalbuminemia and elevated Hs?CRP also had increased risk of all?cause mortality when compared to those with normal plasma albumin and normal Hs?CRP, the HR (95%CI) were 1.16 (1.01-1.34), 1.11 (0.91-1.37) and 1.43 (1.11-1.83), respectively. Conclusion Hypoalbuminemia and elevated Hs?CRP were responsible for increased risk of 5?year all?cause mortality among Chinese older adults from 8 longevity areas.

Objective: To explore the related factors and working way of adolescent injury,and to provide a basis for the effective prevention and intervention of adolescent injury. Methods: The framework of the questionnaire in this study was developed based on the Social Ecology Model. A cross-sectional survey was conducted on a valid sample of 4 309 students from 8 junior high schools and 8 senior high schools in Beijing and Zhongshan city respectively, using stratified random cluster sampling method. Students from grade 7 to grade 12 were invited to participate and investigated with injury prevalence. Results: The incidence of adolescent injury by person and by person-time was 15.53% and 22.49% respectively, and there were differences by sex, age and regions(χ2=15.92，11.45，20.33，P<0.05). The occurrence of adolescent injury was affected by adolescent psychological behavior and social environment through different underlying pathways. The intrapersonal factors and perception of environmental safety showed direct effects on the adolescents’ injuries (effect size was 0.29 and 0.05 respectively, P<0.05). Conclusion Adolescent injury is associated with diverse factors and pathways in a synergistic and complex manner, suggesting that a three-dimensional and diverse strategy should be taken to intervene the injures.