Chinese Population Research Articles

The prognostic impact of maximal aortic diameter on acute type B aortic dissection progression in a Chinese population

Currently, evidence concerning the link between maximal aortic diameter and in-hospital mortality in cases of acute type B aortic dissection (ATBAD) is insufficient. Thus, this study aimed to explore the relationship between the maximal aortic diameter at the time of admission and the early prognosis of patients diagnosed with ATBAD. A total of 678 patients with ATBAD were included between January 2016 and December 2018, during which their clinical data was gathered. The independent variable analyzed was the maximal diameter of the aorta, while the dependent variable was mortality during hospitalization. Factors considered in this analysis included the patients’ age, gender, body mass index (BMI), medical history of hypertension, stroke, diabetes, atherosclerosis, smoking habits, chronic kidney insufficiency, time until presentation, systolic and diastolic blood pressures, ejection fraction, presence of aortic regurgitation, symptoms, involvement of abdominal vessels, laboratory findings, and treatment approaches. Of these patients collected, the mean age was 56.03 ± 12.22 years, and approximately 82.45% of them were male. After analysis, it was found that the maximal aortic diameter of patients with ATBAD was positively correlated with in-hospital mortality (OR = 1.06, 95% CI 1.03 to 1.10). Surprisingly, a J curve relationship was detected between maximal aortic diameter (point 31 mm) and in-hospital death for patients with ATBAD. The effect sizes and confidence intervals of the right (maximal aortic diameter > 31 mm) and left (maximal aortic diameter ≤ 31 mm) aspects of the inflection point were 1.06 (1.02–1.11) and 1.03 (0.83–1.28), respectively. In addition, the stratified analysis showed a stable relationship between maximal aortic diameter and in-hospital mortality, while there was no significant difference in the interaction between different subgroups. In patients with ATBAD, a J-curve relationship was identified between the maximal aortic diameter and in-hospital mortality. Specifically, when the maximal aortic diameter exceeds 31 mm, a positive correlation with in-hospital death was observed.

The application of Chinese version of SARC-F and SARC-CalF in sarcopenia screening against five definitions: a diagnostic test accuracy study

BackgroundSARC-F questionnaire is a simple and convenient tool for sarcopenia screening, and SARC-CalF is a modified version of it. The developments of their Chinese versions are warranted for the clinical use for Chinese population. This study aimed to culturally adapt the SARC-F questionnaire into Chinese using standardized methods, validate the reliability and diagnostic accuracy of the Chinese version SARC-F and SARC-CalF against five sarcopenia diagnosis criteria, and determine optimal cut-off values for clinical practice in Chinese population.MethodsThe translation and cross-cultural adaptation of SARC-F into Chinese were conducted following the methodological report from European Union Geriatric Medicine Society Sarcopenia Special Interest Group. The Chinese version of SARC-F was validated through a diagnostic test, using diagnostic criteria of sarcopenia recommended by the revised 2019 European Working Group on Sarcopenia in Older People (EWGSOP2) consensus, Asian Working Group for Sarcopenia (AWGS2019) consensus, the International Working Group on Sarcopenia (IWGS), the Foundation for the National Institutes of Health (FNIH) Biomarkers Consortium and the Sarcopenia Definition and Outcomes Consortium (SDOC). Additional analysis was done against the criteria of severe sarcopenia according to the revised EWGSOP2 and AWGS2019.ResultsThe Chinese version of SARC-F was well translated and demonstrated good reliability and acceptability. The diagnostic test included 1859 community-dwelling older individuals from two medical centers. Against five different definitions of sarcopenia, the Chinese version of SARC-F showed reasonable diagnostic accuracy for sarcopenia screening (AUC 0.614–0.821), and was demonstrated low sensitivity (13.7–37.9%) but high specificity (94.8–97.7%) with a cut-off value of ≥ 4. SARC-CalF significantly enhanced the diagnostic accuracy of SARC-F when using definitions of EWGSOP2, AWGS2019 and IWGS (all P ≤ 0.001). A score of ≥ 2 for SARC-F and ≥ 7 for SARC-CalF were established as optimal cut-off points for identifying older individuals as at risk of sarcopenia in Chinese population.ConclusionsThe Chinese version SARC-F is of reasonable reliability and validity for sarcopenia screening. Despite its low sensitivity, it proves to be a useful tool to identify severe cases in community taking advantage of its simplicity. SARC-CalF appears to be a more suitable screening tool for clinical use in detecting sarcopenia.

An Analysis of the Impact of Population Ageing on Inflation in China

Abstract: The relationship between demographic change and economic development is one of the most recent and important research topics. Researchers have found that aging will have a certain impact on inflation, but there is still a research gap and controversy on China's inflation problem. Therefore, this paper collects data on the aging process of China's population and inflation rate between 2004 and 2023 and applies graphical analysis and literature analysis to study the data to try to find a cleaner relationship. Through the research, it can be concluded that China's changing population structure has a relatively inhibitory effect on inflation and a negative effect on economic development. The reason may be that the decline in the labor force caused by population aging has a greater impact on aggregate demand than on aggregate supply. Overall, to reduce the impact of the deepening process of population aging, postponing the retirement age and developing the elderly care industry can be an effective way to boost aggregate supply growth to control the increased inflation rate.

The Impact of Changes in China's Population Structure on Consumption Patterns

Consumer spending is the key engine driving economic growth in China. However, in recent years, the overall consumption pattern in China has been affected by domestic epidemics, leading to an increase in unemployment rates among residents and a decrease in consumer willingness. As a result, the annual changes in final consumption expenditure have tended to stabilize, with almost no upward trend. Consequently, numerous studies have emerged based on the current consumption situation in China, providing recommendations to promote consumption. This paper, using data from the World Bank and China's National Statistical Yearbook, conducts research on the impact of demographic changes on consumption structure and proposes relevant suggestions to boost consumption in China. Researching the development of China's population structure reveals several notable trends. These include a decrease in the working-age population accompanied by a significant aging trend, improvements in population quality due to enhanced human capital, and a noticeable trend towards urbanization and increased population mobility. Therefore, this paper provides a series of recommendations, encourages national policies and corporate innovations that promote consumption, and offers solutions to potential issues arising from changes in population structure.

Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age

Objective: To determine the carrier frequency and hot-spot variants of a custom-designed expanded carrier screening (ECS) panel with 216 diseases (216-ECS panel) within a Chinese population of childbearing age. Methods: Whole-exome sequencing data from a cohort of 3 097 unrelated healthy individuals (including 1 424 couples) from Peking Union Medical College Hospital between January 2013 and December 2023 were analyzed. Totally 220 genes which inherited in a recessive manner of 216-ECS panel were included in the analysis. The analysis included variant carrier rate, gene carrier rate, cumulative carrier rate, at-risk couple rates, and variant spectrum. Results: (1) Pathogenic variants were identified in 1 472 (47.53%, 1 472/3 097) individuals, with an average of 0.65 pathogenic variants per individual. The rate of at-risk couples was 3.93% (56/1 424). (2) A total of 180 genes were identified, with 16 genes exhibiting a gene carrier rate of ≥1% and 33 genes having a rate of ≥0.5%, most of which were associated with inherited metabolic diseases. Noteworthy genes with higher gene carrier rates and high-frequency variants included GJB2: c.235del, PAH: c.728G>A, ATP7B: c.2333G>T, SLC26A4: c.919-2A>G, GALC: c.1901T>C, POLG: c.2890C>T, SLC22A5: c.1472C>G, USH2A: c.2802T>G, SLC25A13: c.852_855del, GAA: c.761C>T and c.752C>T. Conclusion: This study offers a focused analysis of carrier frequencies and hot-spot variants of 216 diseases of the ECS panel constructed by our laboratory among the Chinese population, laying a foundation for the development of ECS programs tailored to the Chinese population.

Proteomic and serological markers for diagnosing cardia gastric cancer and precursor lesions in a Chinese population

Cardia gastric cancer (CGC) is prevalent in East Asia, and noninvasive, cost-effective screening methods are needed. This study investigated the diagnostic value of serum pepsinogen (PG), gastrin-17 (G-17), Helicobacter pylori (H. pylori) antibodies, and proteomic profiling for CGC and precancerous lesions. We conducted a case-control study involving biopsy-confirmed patients with CGC (n = 60), low-grade intraepithelial neoplasia (CLGD, n = 60), high-grade intraepithelial neoplasia (CHGD, n = 64), and healthy controls (n = 120) matched for age and sex from high-incidence areas in China. Serological markers including PGI, PGII, G-17, and H. pylori were measured using ELISA and Western blot, while plasma protein markers were assessed using Olink® technology. The VSOLassoBag algorithm and nine machine learning (ML) algorithms were employed to identify crucial features and construct predictive models. Various evaluation metrics, including the area under the receiver-operating-characteristic curve (AUC), were utilized to compare predictive performance. Elevated PGII levels, decreased PGR, and H. pylori infection were significantly associated with an increased risk of CGC and precancerous lesions (P for trend < 0.05). The eXtreme Gradient Boosting (XGBoost) model performed best in discriminative ability among the 9 ML models. Following feature reduction based on predictive performance, a final explainable XGBoost model was developed, incorporating five protein biomarkers (CDHR2, ICAM4, PTPRM, CDC27, and FLT1). This model exhibited excellent performance in distinguishing individuals with CGC and precancerous lesions from healthy controls (AUC = 0.931 for CGC, 0.867 for CHGD, and 0.763 for CLGD), surpassing the traditional serological marker-based model. This study underscores the diagnostic potential of serological markers and proteomic profiling in the detection of CGC. Further validation and exploration of combined biomarker approaches are warranted to enhance early diagnosis and improve outcomes in high-risk populations.

Asthma and eye diseases in middle-aged and elderly Chinese: A comprehensive analysis of CHARLS data.

With China's aging population, the incidence of eye diseases is increasing, leading to urgent concerns about visual impairment and blindness. The cause-and-effect relationship between asthma and eye diseases in the Chinese population remains unclear. This study aimed to investigate the link between asthma and eye-related diseases, including cataracts and glaucoma, among Chinese adults. This study utilized data from the 4th wave of the China Health and Retirement Longitudinal Survey conducted in 2018, involving 19,816 Chinese participants. We first described baseline characteristics, then constructed 5 logistic regression models to study the relationship between asthma and eye diseases in the Chinese context. Additionally, subgroup analyses were performed with selected variables. Across 5 models adjusting for covariates, we found that asthma was significantly associated with cataracts (odds ratios [95% confidence intervals]: 1.36 [1.01-1.79], P = .034) and glaucoma (odds ratios [95% confidence intervals]: 1.92 [1.46-2.49], P < .001). Subgroup analyses revealed that Chinese women, former smokers, or drinkers were at higher risk of developing cataracts (all P < .001), while those aged ≤ 60 years were at higher risk of developing glaucoma (P < .001). Our study provides possible observational evidence linking asthma to cataracts, glaucoma, and visual impairment in the Chinese population. These findings are crucial for disease prevention strategies in China's healthcare system.

The Impact of Urbanization on Rural Population Structure in China

Urbanization has been speeding up in China since reform and opening up policies were promoted, which promotes the progression of rural economy, but furthermore provides a certain degree of negative impact on the rural population structure. On the basis of summarizing the concept of urbanization, this study provides a thorough analysis of China's recent rural population structure and urbanization trend, and finally concludes that the quickening pace of urbanization in China makes the rural population structure face some problems and challenges. This study also offers some thoughts and recommendations in this area. At the same time, when analyzing the trend and population structure, by comparing and summarizing the secondary data and relevant literature, this paper concludes that China's urbanization has caused problems such as talent shortage in rural areas, rural aging and gender structure imbalance of the left-behind population. To solve these problems, China should establish a sound and perfect social security system and encourage the integration of rural and urban development. China ought to also establish a sound pension system and optimize the population structure; in rural areas, the promotion of respect for women has been strengthened and relevant laws have been introduced to gradually eliminate gender discrimination. It is beneficial to promote the national economy, cultural development.

Lefamulin dosing optimization using population pharmacokinetic and pharmacokinetic/pharmacodynamic assessment in Chinese patients with community-acquired bacterial pneumonia.

Lefamulin is the first pleuromutilin antibiotic approved for the treatment of community-acquired bacterial pneumonia (CABP). However, the pharmacokinetic/pharmacodynamic (PK/PD) characteristics in Chinese CABP patients are not fully understood. This study aimed to evaluate its microbiological efficacy against Streptococcus pneumoniae and Staphylococcus aureus via PK/PD analysis. The population PK (PopPK) model, established with foreign data was validated using data from Chinese CABP patients. PK/PD analysis was conducted for the intravenous administration of 150mg q12h for 1-h, 1.5-h and extended 2-h infusion. Oral administrations of 600mg q12h were assessed, considering original and higher plasma protein binding. Lefamulin displayed similar PK characteristics in both Chinese and Western populations. The PopPK model effectively predicted lefamulin concentrations in Chinese CABP patients. Under the dosage regimen of 150mg q12h via intravenous infusion for 1/1.5/2h, the probability of target attainments reached 98% at the minimum inhibitory concentration for both 90% S. pneumoniae and S. aureus, considering both original and higher protein binding rates. It is advisable to extend the infusion duration from 1/1.5 h-2h to minimize the risk of adverse effects at the infusion site. Regardless of fasted or fed conditions, the PTAs for 600mg q12h lefamulin via oral administration proved comparable to those for intravenous administration. This study proved that intravenous and oral administrations of lefamulin can reach preclinical PK/PD targets of S. pneumoniae and S. aureus. These findings support the optimal use of lefamulin for the safe and effective treatment of Chinese CABP patients.

Combined effect of triglyceride glucose-body mass index and hypertension on new-onset stroke: evidence from the China health and retirement longitudinal study.

The aim of this study is to investigate the combined impact of the triglyceride glucose-body mass index (TyG-BMI) and hypertension on the risk of stroke among the middle-aged and older adult population in China. This study included 6,922 participants aged 45 and above from the China Health and Retirement Longitudinal Study, utilizing a multivariate Cox proportional hazards regression model to explore the relationship between TyG-BMI, hypertension, and the incidence of new-onset stroke events, as well as conducting Net Reclassification Improvement (NRI) and Integrated Discrimination Improvement (IDI) analyses to evaluate the predictive utility of TyG-BMI. During a 7-year follow-up period, a total of 401 stroke events were recorded. Compared to patients with lower TyG-BMI (TyG-BMI < 199.74) levels and non-hypertension, those with elevated TyG-BMI levels and non-hypertension had an adjusted hazard ratio (HR) and 95% confidence intervals (95%CI) were 1.47 (1.05-2.05). The adjusted HR and 95%CI for the group with lower TyG-BMI levels and hypertension was 2.99 (2.17-4.12), and for those with elevated TyG-BMI levels and hypertension, the adjusted HR and 95%CI was 3.49 (2.63-4.62). In a multivariate Cox proportional hazards regression model, the combination of elevated TyG-BMI levels and hypertension, treated as routine variables, was still significantly associated with the risk of stroke. NRI and IDI analyses showed significant improvements in risk prediction with the inclusion of TyG-BMI. Furthermore, in all subgroup analyses conducted, individuals with elevated TyG-BMI levels and hypertension nearly exhibited the highest risk for incident stroke. Our study reveals that the combined effect of TyG-BMI and hypertension may increase the risk of incident stroke in the middle-aged and older adult Chinese population. TyG-BMI correlates with comorbid conditions and enhances traditional risk assessment. Future research will require validation through larger sample sizes or diverse populations to further confirm this finding.

Chinese Populations of Magnaporthe oryzae Serving as a Source of Human-Mediated Gene Flow to Asian Countries: A Population Genomic Analysis

Magnaporthe oryzae, a filamentous heterothallic ascomycete fungus that serves as the causative agent of rice blast disease, is globally distributed in rice-growing regions. Populations shaped by environmental factors and human intervention play important roles in the formation of genetic structure. In this study, population structures and spatiotemporal dynamics were investigated based on large-scale whole genomic sequences of rice-infecting M. oryzae around the world. By analyzing these genetic structures, we identified divergent clades that crossed geographic boundaries. While we observed associations between the isolates and their geographic origins, we also found that there were frequent migration events occurring across Asia in main rice cultivation regions. Within Asia, China was the migration origin, facilitating gene flows to Japan and South Korea. Since the 1970s, the genetic diversity of M. oryzae populations in China has also shown a steadily increasing trend, continuing through to the 2020s. Additionally, our analysis of the evolutionary history of Asian M. oryzae populations provided insights into the population expansion that has taken place in recent decades. Overall, our findings indicate that human-mediated gene flows played a pivotal role in shaping the genetic structure of M. oryzae.

Identification and Functional Investigation of SOX4 as a Novel Gene Underpinning Familial Atrial Fibrillation.

Background: Atrial fibrillation (AF) signifies the most prevalent supraventricular arrhythmia in humans and may lead to cerebral stroke, cardiac failure, and even premature demise. Aggregating strong evidence points to genetic components as a cornerstone in the etiopathogenesis of familial AF. However, the genetic determinants for AF in most patients remain elusive. Methods: A 4-generation pedigree with idiopathic AF and another cohort of 196 unrelated patients with idiopathic AF as well as 278 unrelated healthy volunteers were recruited from the Chinese population of Han ethnicity. A family-based whole-exome sequencing examination followed by a Sanger sequencing assay in all research subjects was implemented. The functional impacts of the identified SOX4 mutations were explored via a dual-reporter assay. Results: Two new heterozygous SOX4 mutations, NM_003107.3: c.211C>T; p.(Gln71*) and NM_003107.3: c.290G>A; p.(Trp97*), were observed in the family and 1 of 196 patients with idiopathic AF, respectively. The two mutations were absent in the 278 control individuals. The biochemical measurements revealed that both Gln71*- and Trp97*-mutant SOX4 failed to transactivate GJA1 (Cx43). Moreover, the two mutations nullified the synergistic activation of SCN5A by SOX4 and TBX5. Conclusions: The findings first indicate SOX4 as a gene predisposing to AF, providing a novel target for antenatal genetic screening, individualized prophylaxis, and precision treatment of AF.

Association between methylenetetrahydrofolate reductase C677T polymorphisms and male oligozoospermia, asthenozoospermia or oligoasthenozoospermia: a case–control study

Mutation of methylenetetrahydrofolate reductase (MTHFR) C677T leads to the decrease of folate utilization and the impairment of spermatogenesis. This study attempts to investigate the association between MTHFR C677T polymorphisms and nonobstructive oligozoospermia, asthenozoospermia or oligoasthenozoospermia in the Chinese population. The study cohort comprised 189 patients diagnosed with oligozoospermia, asthenozoospermia or oligoasthenozoospermia, and 626 controls based on clinical examinations. The MTHFR c.677 genotype of all subjects was determined by fluorescence staining in situ hybridization and the significance of different genotype frequencies was further analyzed by Chi-square test. The results showed that the frequency of MTHFR 677 CT genotype in the oligozoospermia, asthenozoospermia and oligoasthenozoospermia group was 33.3%, 38.3% and 44.0% respectively, whereas it was 47.3% in the control group. The P value of Chi-square test was 0.070, 0.103 and 0.654, respectively. The frequency of MTHFR 677 TT genotype in the oligozoospermia, asthenozoospermia and oligoasthenozoospermia group was 31.1%, 11.7% and 18.0% respectively, while that in the control group was 19.5%. The P value of Chi-square test was 0.061, 0.070 and 0.066, respectively. Collectively, there is a weak association between MTHFR C677T polymorphisms and oligozoospermia, asthenozoospermia or oligoasthenozoospermia within the current Chinese population cohort.

Immunogenicity Persistence of Different Immunization Regimens of Rabies Vaccine in the 10–60 Years Age Group: A Follow-Up Report Based on Phase III Clinical Trial

Objectives: This study evaluated the 12-month persistence of rabies virus-neutralizing antibody (RVNA) following different immunization regimens of freeze-dried human rabies vaccine (Vero cells) in individuals aged 10–60 years within the Chinese population. Methods: Number of 600 participants from phase III clinical trials who completed the fullimmunization were randomly assigned into one of three groups, four-dose experimental group, five-dose experimental group, and five-dose control group. The experimental group received the vaccine from Shandong Yeedu Biotechnology Co., while the control group used the vaccine from Liaoning Chengda Biotechnology Co., Ltd. The antibody-positive rate and geometric mean concentration (GMC) were calculated, and analysis of variance was used to compare the results among the three groups. Results: The study included 200 participants in the four-dose experimental group, 186 in the five-dose experimental group, and 214 in the five-dose control group. Twelve months post-immunization, the overall RVNA-positive rates were 97.00%, 93.55%, and 94.86% in the four-dose experimental, five-dose control, and five-dose experimental groups, respectively. The GMCs of RVNA were 2.50, 2.05, and 2.04 IU/mL for the respective groups. The age-stratified analysis exhibited high positivity rates across age groups (≤21, 21–50, and ≥50), with rates ranging from 88.4% to 100%, and GMCs were between 1.75 and 2.61 IU/mL. Conclusions: Twelve months after full immunization, the overall RVNA-positive rate remained high across all dosing regimens, demonstrating satisfactory immunogenicity persistence. This indicates that both the four-dose and five-dose regimens are effective in maintaining long-term immunity against rabies.

Association of impaired fasting glucose with cardiometabolic multimorbidity: TheKailuan study.

We investigated the association between impaired fasting glucose (IFG) and cardiometabolic multimorbidity (CMM) in the Chinese population. We included 119,368 participants, free of diabetes mellitus and cardiovascular disease, who participated in the health examination (2006, 2008, 2010) of the Kailuan Study. According to World Health Organization diagnostic criteria, participants were divided into normal fasting blood glucose (FBG) (<6.1 mmol/L) and IFG (FBG 6.1-6.9 mmol/L) groups. CMM was defined as having two or more cardiometabolic diseases, including myocardial infarction, stroke and diabetes mellitus. We used Cox proportional hazards models to evaluate associations between IFG and CMM. During a median follow-up period of 13.94 years, 2,432 CMM incident events occurred. After adjusting potential confounders, the hazard ratio (HR) and 95% confidence interval (CI) for CMM in the IFG group was 2.83 (95% CI 2.58-3.10) versus the normal FBG group. The HR of IFG for diabetes mellitus was 3.43 (95% CI 3.30-3.55), which was >1.25 (95% CI 1.13-1.37) for myocardial infarction, 1.16 (95% CI 1.07-1.25) for ischemic stroke and 1.06 (95% CI 0.88-1.27) for hemorrhagic stroke. Compared with normal FBG, HRs for risk of IFG for CMM were 2.73 (95% CI 2.48-3.02) in men and 3.86 (95% CI 2.92-5.09) in women. IFG was a risk factor for CMM. The effect of IFG on diabetes mellitus was stronger than that on other cardiometabolic diseases. The effects of IFG for CMM differed by sex.

Clinical utility of expanded carrier screening in the preconception and prenatal population: A Chinese cohort study

ObjectivesTo evaluate the clinical utility of expanded carrier screening (ECS) in Chinese preconception and prenatal populations, focusing on carrier frequency and the impact on at-risk couples (ARCs). MethodsData from 6,298 Chinese individuals from 4,420 families who underwent a 149-gene ECS panel at a single center were analyzed. The prevalence of positive carriers and ARCs was determined, with follow-up on reproductive decisions and pregnancy outcomes for ARCs. ResultsOf the individuals screened, 2,673 (42.4 %) were carriers of at least one pathogenic or likely pathogenic variant, and 98 (2.22 %) ARCs were identified. GJB2-related deafness and Duchenne muscular dystrophy were the most common autosomal recessive (AR) and X-linked disorders. Screening the top 11 (gene carrier rate [GCR] ≥ 1/100), 22 (GCR ≥ 1/200), and 41 (GCR ≥ 1/331) AR genes could identify 53.5 %, 67.9 %, and 81.3 % of variants, respectively. The corresponding ratios for identified ARCs were 90.4 %, 94.0 %, and 100 %. Follow-up data from 80 ARCs indicated that 75.0 % (60/80) took significant action based on the ECS results. Additionally, four families (3.5 %, 4/115) were identified at risk for a second disease unrelated to their initial family monogenic history. ConclusionsThis study, representing the largest cohort of a moderate-sized ECS panel test in the Chinese population, demonstrates the clinical utility of ECS in both healthy individuals and those with a family history of monogenic disorders. The data obtained provide valuable insights for developing a Chinese-specific ECS panel. Tailored approaches are critical for wider adoption and successful routine application of ECS.

Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients

BackgroundCongenital aniridia is a rare pan-ocular disease characterized by complete irideremia, partial iridocoloboma. The progressive nature of aniridia is frequently accompanied by secondary ocular complications such as glaucoma and aniridia-associated keratopathy, which can lead to severely impaired vision or blindness. The genetic basis of aniridia has been the subject of numerous studies, leading to the development of innovative therapeutic options based on PAX6 nonsense mutations. Specific knowledge of the genetics of aniridia has become increasingly important. To report the clinical features, elucidate the genetic etiology, and reveal the mutational spectrum of congenital aniridia in the Chinese population, sixty patients with congenital aniridia from 51 families were recruited. Candidate genes associated with developmental eye diseases were identified and analyzed using panel-based next-generation sequencing (NGS), and mutations were confirmed through polymerase chain reaction and Sanger sequencing. Multiplex ligation probe amplification (MLPA) of PAX6 and FOXC1 was performed to detect copy number variations in the patients without intragenic mutations.ResultsClinical examination revealed complete iris hypoplasia in 58 patients and partial iris hypoplasia in two patients. Additionally, two patients were diagnosed with Wilms’ tumor-aniridia-genital anomalies-retardation syndrome and nephroblastoma. By combining panel-based NGS and MLPA, 43 intragenic mutations or deletions of PAX6, FOXC1, and BCOR were identified in 59 patients, including 33 point mutations (76.7%) in 43 patients and 10 deletions (23.3%) in 16 patients. The total detection rate was 98.3%. Phenotypic variation was observed between and within families.ConclusionsVariations in PAX6 and its adjacent regions were the predominant causes of aniridia in China. In addition to intragenic point mutations in PAX6, deletion of PAX6 or its adjacent genes is a common cause of congenital aniridia. Furthermore, FOXC1 is an important gene associated with congenital aniridia. The combination of panel-based NGS and MLPA significantly enhanced the detection rate of gene mutations in patients with congenital aniridia.

Distribution and associated factors of choroidal thickness in highly myopic eyes-a real-world study based on a Chinese population.

To measure the subfoveal choroidal thickness (SFCT) in highly myopic eyes at different locations using enhanced depth imaging spectral-domain optical coherence tomography (EDI SD-OCT). To identify the ocular and systemic risk factors associated with choroidal thinning in high myopia. Based on the Beijing Eye Study, a detailed ophthalmic examination was performed including EDI SD-OCT for the measurement of SFCT. OCT images were obtained from 103 highly myopic eyes (≥ -6.00 dioptres) and 227 normal eyes randomly selected from the baseline population, matched for age and sex. The mean SFCT was 110.6 ± 85.2 μm in highly myopic eyes (range, 3-395 μm). Mean regional choroidal thickness was lowest on the nasal and inferior sides of the macula, and slightly higher on the temporal and superior sides than at the fovea. On multivariate analysis, SFCT was associated with age (b = -0.48; P < 0.001), axial length (b = -0.44; P < 0.001), gender (b = -0.31; P < 0.05) and staphyloma (b = -0.26; P = 0.05). In highly myopic eyes, SFCT decreased by 5.1 μm/year of age, by 9.2 µm/D of myopia, and by 22.6 µm/mm of axial length. The SFCT decreases with age and increased axial length in highly myopic eyes. The formation of a posterior staphyloma has been identified as a major contributor to choroidal thinning and is therefore a reliable indicator for risk management. The involvement of choroidal abnormalities may be a significant factor in the development of myopic degeneration.

Association Between Changes in Central Blood Pressure and Peripheral Blood Pressure With New-Onset Hypertension in a Chinese Community-Based Population.

Spot central and peripheral blood pressure are predictors for future hypertension, but the associations between central or peripheral systolic blood pressure (SBP) changes and new-onset hypertension are unclear. Annual changes in central and peripheral SBP over a mean interval of 2.36 years were calculated for 815 Chinese community residents without cardiovascular disease and hypertension at the first two visits, with the formula: ([2nd SBP-1st SBP]/1st SBP) × 100%/time interval (years). The independent and joint associations of these SBP changes with new-onset hypertension at the third visit were assessed with multivariable logistic regression models. During a mean follow-up interval of 4.37 years since the second visit, 171 new cases of hypertension were observed. Central and peripheral SBP changes were significantly associated with new-onset hypertension (central SBP change rate: odds ratio [OR]: 1.19 [95% confidence intervals (CI) 1.13, 1.26]; peripheral SBP change rate: OR: 1.25 [95% CI 1.17, 1.33]), even after adjusting for each other. Compared to the group with neither SBP increased, the group with both SBPs increased showed asignificantly higher risk of new-onset hypertension (OR: 4.52 [95% CI 2.54, 8.04]). The model including both SBP changes had a higher area under the curve (AUC) for predicting hypertension in receiver operating characteristic (ROC) analyses than those with either change alone. Central and peripheral SBP changes are independently and jointly associated with new-onset hypertension. It is recommended to regularly monitor both central and peripheral blood pressures.

Establishment of an Integrated Population Pharmacokinetic/Pharmacodynamics Model of Apixaban in Chinese Healthy Population Adjusting for Key Genetic Variants.

To improve the understanding of pharmacokinetic/pharmacodynamic (PK/PD) profiles of apixaban, supporting personalised drug prescriptions for future patients. Genetic as well as nongenetic factors can affect the predictable PK and PD characteristics of apixaban. Establish a integrated popPK/PD model that adjusts for critical genetic variant. The integrated PK/PD models was characterized on the basis of PK (apixaban blood concentration) and PD (prothrombin time (PT), activated partial thromboplastin time (APTT), and anti-FXa activity) data from 181 healthy Chinese volunteers. Other investigated covariate variables included: Meaningful intrinsic and extraneous determinants, correlated markers (ABCG2, F13A1, C3, etc.). A total of 2877 PK concentration observations were included in the modeling dataset. The PK model of apixaban is adopted by single compartment model with first-order oral absorption. The estimated values of total clearance rate (CL/F), apparent distribution volume (V/F), and absorption rate constant (KA) in the final model are 3.37 l/h, 28.2 l, and 0.781 l/h, respectively. The PK model includes significance covariates such as FOOD, RBC, WT, and gene (ABCG2). The PD model of apixaban is adopted by a linear direct effect model with additive error, which was used to describe the relationship between markers such as APTT, PT, anti-FXa, versus plasma concentration. PK simulation within the modelled dose range is similar to clinical real date, while PD simulation results also show that the simulated exposure parameters is within the range of the literature. We established a comprehensive PK/PD model and used it to simulate markers level such as APTT, PT, and anti-FXa of apixaban. Individual predictive values with a dose of 2.5 mg are basically within the expected recommended range.