Family-based tests of association between a genetic marker and a disease constitute a common design to dissect the genetic architecture of complex traits. The FBAT software is one of the most popular tools to perform ...Family-based tests of association between a genetic marker and a disease constitute a common design to dissect the genetic architecture of complex traits. The FBAT software is one of the most popular tools to perform such studies. However, researchers are also often interested in the genetic contribution to a more specific manifestation of the phenotype (e.g. severe vs. non-severe form) known as a secondary outcome. Here, what we demonstrate is the limited power of the classical formulation of the FBAT statistic to detect the effect of genetic variants that influence a secondary outcome, in particular when these variants also impact on the onset of the disease, the primary outcome. We prove that this loss of power is driven by an implicit hypothesis, and we propose a derivation of the original FBAT statistic, free from this implicit hypothesis. Finally, we demonstrate analytically that our new statistic is robust and more powerful than FBAT for the detection of association between a genetic variant and a secondary outcome.展开更多
BACKGROUND Insulin resistance is a cardiometabolic risk factor characterized by elevated insulin levels.It is associated with fatty liver disease and elevated liver function tests(LFT)in cross-sectional studies,but da...BACKGROUND Insulin resistance is a cardiometabolic risk factor characterized by elevated insulin levels.It is associated with fatty liver disease and elevated liver function tests(LFT)in cross-sectional studies,but data from cohort studies are scarce.AIM To investigate the association between insulin and pathological LFT,liver disease,and cirrhosis in a populationbased retrospective cohort study.METHODS Anthropometric and cardiometabolic factors of 857 men and 1228 women from prospective cohort studies were used.LFT were obtained at two time points 8 years to 24 years after baseline.Liver disease diagnoses were obtained from nationwide registries.The association between insulin levels and the development of elevated LFT or liver disease and cirrhosis was analyzed.RESULTS Total follow-up was 54054 person-years for women and 27556 person-years for men.Insulin levels were positively correlated with elevated LFT during follow-up,whereas physical activity and coffee consumption were negatively correlated.Individuals with both insulin levels in the upper tertile and alcohol consumption above MASLD thresholds had an increased risk for both liver disease,adjusted hazard ratio(aHR)of 4.3(95%CI:1.6-14.6)and cirrhosis(aHR=4.8,95%CI:1.6-14.6).CONCLUSION This population-based study provides evidence that high insulin levels are a risk factor for development of elevated liver enzymes and clinically manifest liver disease.The results support the concept of metabolic dysfunction associated liver disease.展开更多
The dysbiosis of microbiome may have negative effects on a host phenotype.The microbes related to the host phenotype are regarded as microbial association signals.Recently,statistical methods based on microbiome-pheno...The dysbiosis of microbiome may have negative effects on a host phenotype.The microbes related to the host phenotype are regarded as microbial association signals.Recently,statistical methods based on microbiome-phenotype association tests have been extensively developed to detect these association signals.However,the currently available methods do not perform well to detect microbial association signals when dealing with diverse sparsity levels(i.e.,sparse,low sparse,non-sparse).Actually,the real association patterns related to different host phenotypes are not unique.Here,we propose a powerful and adaptive microbiome-based association test to detect microbial association signals with diverse sparsity levels,designated as MiATDS.In particular,we define probability degree to measure the associations between microbes and the host phenotype and introduce the adaptive weighted sum of powered score tests by considering both probability degree and phylogenetic information.We design numerous simulation experiments for the task of detecting association signals with diverse sparsity levels to prove the performance of the method.We find that type I error rates can be well-controlled and MiATDS shows superior efficiency on the power.By applying to real data analysis,MiATDS displays reliable practicability too.The R package is available at https://github.com/XiaoyunHuang33/MiATDS.展开更多
Genetic association studies usually apply the simple chi-square (χ<sup>2</sup>)-test for testing association between a single-nucleotide polymorphism (SNP) and a particular phenotype, assuming the genotyp...Genetic association studies usually apply the simple chi-square (χ<sup>2</sup>)-test for testing association between a single-nucleotide polymorphism (SNP) and a particular phenotype, assuming the genotypes and phenotypes are independent. So, the conventional χ<sup>2</sup>-test does not consider the increased risk of an individual carrying the increasing number of disease responsible allele (a particular genotype). But, the association tests should be performed with the consideration of this disease risk according to the mode of inheritance (additive, dominant, recessive). Practical demonstration of the two possible methods for considering such order or trends in contingency tables of genetic association studies using SNP genotype data is the purpose of this paper. One method is by pooling the genotypes, and the other is scoring the individual genotypes, based on the disease risk according to the inheritance pattern. The results show that the p-values obtained from both the methods are similar for the dominant and recessive models. The other important features of the methods were also extracted using the SNP genotype data for different inheritance patterns.展开更多
Objective:To assess the distribution of ABO blood group and their relationship with Plasmodium falciparum(P.falciparum) malaria among febrile outpatients who sought medical attention at Dore Bafeno Health Center,South...Objective:To assess the distribution of ABO blood group and their relationship with Plasmodium falciparum(P.falciparum) malaria among febrile outpatients who sought medical attention at Dore Bafeno Health Center,Southern Ethiopia.Methods:A total of 269 febrile outpatients who visited Dore Bafeno Health Center,Southern Ethiopia,were examined for malaria and also tested for ABO blood groups in January 2010.The blood specimens were collected by finger pricking,stained with Geimsa,and examined microscopically.Positive cases of the parasitemia were counted.CareStart^(TM) Malaria PflPv Combo was also used to test the blood specimens for malaria.ABO blood groups were determined by agglutination test using ERYCLONE antisera.Data on socio-demographic characteristics and treatment status of the participants were also collected.Chi-square and ANOVA tests were used to assess the difference between frequencies and means,respectively.Results:Out of a total of 269 participants,178(66.2%) febrile patients were found to be infected with Plasmodium parasites,among which 146(54.3%),28(10.4%),and 4(1.5%) belonged to P.falciparum,P.vivax,and mixed infections,respectively.All febrile patients were also tested for ABO blood groups and 51.3%,23.5%,21.9%and 3.3%were found to be blood types of 0,A,B and AB,respectively.Both total malaria infection and P.falciparum infection showed significant association with blood types(P<0.05).The proportion of A or B but not 0 phenotypes was higher(P<0.05) in individuals with P.falciparum as compared with non-infected individuals.The chance of having P.falciparum infection in patients with blood groups A,B and AB was 2.5,2.5 and 3.3times more than individuals showing blood 0 phenotypes,respectively.The mean P.falciparum malaria parasitemia for blood groups A,B,AB,and 0 were 3 744/μ L,1 805/ μ L,5 331/μ L,and1 515/μ L,respectively(P<0.01).Conclusions:The present findings indicate that individuals of blood groups A,B and AB are more susceptible to P.falciparum infection as compared with individuals of blood group O.Nevertheless,further in depth studies are required to clearly establish the role that ABO blood group plays in P.falciparum malaria.展开更多
OBJECTIVE： To recognize the significances of the classification, evaluation, treatment, pathogenesis, etiological factors and related loci of hemispatial neglect （HSN） in the treatment and prognosis of stroke patie...OBJECTIVE： To recognize the significances of the classification, evaluation, treatment, pathogenesis, etiological factors and related loci of hemispatial neglect （HSN） in the treatment and prognosis of stroke patients. DATA SOURCES： Articles related to HSN in stroke published in English from January 1985 to December 2002 were searched in Medline database by using the keywords of ＂stroke, hemispatial neglect （HSN）, rehabilitation＂. Chinese relevant professional works and articles were also referred to. STUDY SELECTION： The data were primarily checked. Inclusive criteria： ① articles about the HSN symptoms in stroke; ② articles about the classification, evaluation, treatment, pathogenesis, etiological factors and related loci of HSN, as well as the treatment and prognosis of stroke. The repetitive studies or reviews were excluded. DATA EXTRACTION ： Totally 474 articles related to HSN in stroke were collected, 43 of them were involved and 431 repetitive studies or reviews were excluded. DATA SYNTHESES： HSN can be classified as sensory neglect and motor neglect. Because HSN is caused by the injury of network structure which mediated directed attention, it is generally believed that the inferior parietal Iobule of dominant hemisphere is the most closely correlated with neglect. The main theories related to the pathogenesis of HSN at present include ＂internal instruction＂, ＂directed bradykinesia＂, ＂sensory attention＂, etc. The main clinical manifestations are setover in drawing lines, picture drawing towards one side, imitation towards one side, picture description towards one side, etc., which can be evaluated by the line bisection test, target cancellation test, picture drawing test and pegboard test. The most important thing for the treatment is to make the patients continuously concentrate on the neglected side. CONCLUSION： HSN is an indicator for the bad outcome of cerebrovascular disease, the symptoms take longer time to rehabilitate with slow recovery, but quite a few HSN patients will get good prognosis if timely treatment and proper program are given.展开更多
Introduction Difficulties in accessing the screening test for viral hepatitis B in maternity wards could be a factor in underestimating the prevalence of anti-HBV antibodies. The rapid diagnostic orientation test (RDO...Introduction Difficulties in accessing the screening test for viral hepatitis B in maternity wards could be a factor in underestimating the prevalence of anti-HBV antibodies. The rapid diagnostic orientation test (RDOT) could improve seroprevalence and obstetrical prognosis. The aim of this study was to use the rapid diagnostic orientation test (RDOT) to determine the seroprevalence of HBs antigen carriage in pregnant women while highlighting the associated factors. Methods This was a cross-sectional and descriptive study that took place from October to December 2020 (three months) in three (03) reference maternities in western Benin (Mono). Consenting pregnant women received in prenatal consultation had been screened by RDOT. Positive cases were confirmed by ELISA test. The follow-up of these cases made it possible to establish the obstetrical prognosis. Results Of 201 women studied, 11 (5.5%) were positive for RDOT HBV and confirmed by the ELISA test. The factors associated with HBsAg carriage during pregnancy were multiple sexual partnerships (p = 0.01), female circumcision (p = 0.0001), and ignorance of prior HBV serological status (p = 0.0001). No influence of hepatitis B on pregnancy was noted. Conclusion The seroprevalence of hepatitis B in pregnancy was intermediate in the reference maternities of western Benin. The associated factors were multiple sexual partnerships, female circumcision and unawareness of prior HBV status. Free RDOT in maternity wards would improve early detection and management of viral hepatitis B in pregnancy.展开更多
Testing the association of two high-dimensional random vectors is of fundamental importance in the statistical theory and applications.In this paper,we propose a new test statistic based on the Frobenius norm and subt...Testing the association of two high-dimensional random vectors is of fundamental importance in the statistical theory and applications.In this paper,we propose a new test statistic based on the Frobenius norm and subtracting bias technique,which is generally applicable to high-dimensional data without restricting the distributional Assumptions.The limiting null distribution of the proposed test is shown to be a random variable combining a finite chi-squared-type mixture with a normal approximation.Our proposed test method can also be a normal approximation or a finite chi-squared-type mixtures under additional regularity conditions.To make the test statistic applicable,we introduce a wild bootstrap method and demonstrate its validity.The finite-sample performance of the proposed test via Monte Carlo simulations reveals that it performs better at controlling the empirical size than some existing tests,even when the normal approximation is invalid.Real data analysis is devoted to illustrating the proposed test.展开更多
Inferences of subtle cerebral injury and dysfunction have been historically dependent upon psychometric tests from which clinical neuropsychological profiles are generated. In addition to being secondary, over-inclusi...Inferences of subtle cerebral injury and dysfunction have been historically dependent upon psychometric tests from which clinical neuropsychological profiles are generated. In addition to being secondary, over-inclusive and crude indicators of cerebral activity, psychometric tests are subject to economic incentives to “re-norm” traditional methods under the pretense of “ensuring” contemporary representations that are sanctioned by regulating organizations dominated by agendas of control over the interpretations of clinicians. The validity of neuropsychological tests is essential for their perspicacious application and interpretations. We measured the quantitative electroen-cephalographic profiles and calculated s-LORETA (standardized Low Resolution Electromagnetic Tomography) profiles in real time for normal men and women while they engaged in both traditional and novel neuropsychological tests that were employed to infer localized brain injury. Conspicuous alterations in source current density within specific frequency bands occurred within various regions of the right prefrontal region during performance of the Category, Design Fluency and Conditioned Spatial Association Test, the prefrontal medial surface during Toe Graphaesthesia, the caudal medial surface during Toe Gnosis, the left temporal region during Speech-Sounds, and within the right retrosplenial-parahippocampal region for Seashore Rhythms. Results supported the well established regional associations with the classic neuropsychological tests, verified the cerebral localization with more recent procedures, and emphasized the utility of modern real-time, direct cerebral imaging procedures.展开更多
Objective To examine HIV self-testing uptake and its determinates among men who have sex with men （MSM） in Beijing, China. Methods A cross-sectional online survey was conducted in Beijing, China in 2016. Participant...Objective To examine HIV self-testing uptake and its determinates among men who have sex with men （MSM） in Beijing, China. Methods A cross-sectional online survey was conducted in Beijing, China in 2016. Participants were users of a popular Chinese gay networking application and had an unknown or negative HIV status. Univariate and multivariate logistic regression analyses were conducted to examine factors associated with HIV self-testing based on adjusted odds ratio （AOR） and 95% confidence interval （CI）. Results Among the 5,996 MSM included in the study, 2,383 （39.7%） reported to have used HIV self-testing kits. Willingness to use an HIV self-test kit in the future was expressed by 92% of the participants. High monthly income （AOR = 1.49; CI = 1.10-2.02; P = 0.010）, large number of male sex partners （≥2： AOR = 1.24; CI = 2.09-1.43; P = 0.002）, sexual activity with commercial male sex partners （〉 2： AOR = 1.94; CI = 1.34 -2.82; P = 0.001）, long-term drug use （AOR = 1.42; CI = 1.23-1.62; P 〈 0.001）, and long-term HIV voluntary counseling and testing （VCT） attendance （AOR = 3.62; CI = 3.11-4.22; P 〈 0.001） were all associated with increased odds of HIV self-testing uptake. Conclusion The nearly 40% rate of HIV self-testing uptake among MSM in our sample was high. In addition, an over 90% willingness to use kits in the future was encouraging. HIV self-testing could be an important solution to help China achieve the global target of having 90% of all people living with HIV diagnosed by 2020.展开更多
Non-compliance with respiratory protection programs among firefighters may put them at increased risk of injury and illness from occupational exposures during fire extinguishing activities. This research aims to chara...Non-compliance with respiratory protection programs among firefighters may put them at increased risk of injury and illness from occupational exposures during fire extinguishing activities. This research aims to characterize respiratory protection practices among Florida firefighters. This information will allow better understanding of factors that are associated with non-compliance with respiratory protection guidelines. A survey questionnaire was used to characterize Florida fire departments in this cross-sectional study. Four hundred and seventy-seven surveys were administered to Florida firefighters both in person and electronically to collect information regarding firefighter knowledge and participation in their respective respiratory protection programs during the past twelve months. Survey questions were developed from the model set by the National Fire Protection Association (NFPA) which provides standards and regulations regarding firefighter protections. Summary statistics regarding firefighter department size, coverage area, and firefighter employment type were produced. Multinomial logistic regression analysis was performed to evaluate factors that impact respiratory protection programs. The 477 respondents were 91% male with a mean age of 39 years old (range 21 - 65 years). The majority of respondents, 76%, were non-smokers, 21% former smokers, and 3% current smokers. In regard to ethnicity, respondents were 77% Caucasian, 13% Hispanic, 3% African American, and 4% other. Most respondents were career firefighters, 97%, with less than ten years of experience, 44%, working in a fire department with at least 21 firefighters, 98%. Most respondents, 80%, had a written respiratory program in place. The most cited reason for not having implemented a written respiratory protection program was lack of knowledge related to the program. Multinomial logistic regression analysis of departments with response areas of at least 250,000 square miles produced a statistically significant 0.444 (0.219 - 0.901 CI) odds ratio for having a written respiratory program as compared to those with a less than 10,000 square miles response area. Additional resources need to be given to Florida fire departments to ensure that all firefighters receive adequate respiratory protection in accordance with NFPA guidelines. There is an association between fire departments with large response areas and non-compliance with respiratory protection guidelines in regard to: having a written respiratory program, the frequency of respiratory fit testing, and the frequency of medical fitness testing. This suggests that rural fire departments need additional resources to ensure firefighters are adequately protected. Additional research should focus on why these differences exist in the rural fire departments. Respondents stating a lack of knowledge or no requirement for a written respiratory program suggest that future efforts should focus on respiratory protection education and training.展开更多
BACKGROUND Gestational diabetes mellitus(GDM)is a concern due to its rapid increase in incidence in recent years.AIM To investigate the correlation and predictive value of serum pregnancyassociated plasma protein A(PA...BACKGROUND Gestational diabetes mellitus(GDM)is a concern due to its rapid increase in incidence in recent years.AIM To investigate the correlation and predictive value of serum pregnancyassociated plasma protein A(PAPP-A),triglyceride(TG),and 25-hydroxyvitamin D[25-(OH)D]with GDM in early pregnancy.METHODS A total of 99 patients in early pregnancy admitted to Peking University International Hospital from November 2015 to September 2017 were included,and underwent a fasting glucose test and oral glucose tolerance test screening at 24-28 wk of pregnancy.Of these cases with GDM,51 were assigned to group A and the remaining 48 cases without GDM were enrolled in group B.Serum PAPP-A,TG and 25-(OH)D in the two groups were compared and their correlation with blood sugar was analyzed.In addition,their diagnostic value in GDM was determined using receiver operating characteristic(ROC)curve analysis.RESULTS Group A had markedly lower serum PAPP-A and 25-(OH)D levels and a significantly higher serum TG level than group B,with statistical significance(P<0.05).Furthermore,Pearson analysis identified that PAPP-A and 25-(OH)D levels were negatively correlated with fasting blood glucose(FBG)levels(r=-0.605,P<0.001),(r=-0.597,P<0.001),while TG and FBG levels were positively correlated(r=0.628,P<0.001).The sensitivity,specificity,area under the curve(AUC)and optimal cut-off value of serum PAPP-A level in the diagnosis of GDM were 72.55%,82.35%,0.861 and 16.340,respectively,while the sensitivity of TG in diagnosing GDM was 86.27%,the specificity was 66.67%,the AUC was 0.813,with an optimal cut-off value of 1.796.The corresponding sensitivity,specificity,AUC and optimal cut-off value of serum 25-(OH)D were 64.71%,70.59%,0.721 and 23.140,respectively.Moreover,multivariate logistic regression analysis revealed that FBG,vascular endothelial growth factor,Flt-1,serum PAPP-A,TG,and 25-(OH)D were related risk factors leading to GDM in patients.CONCLUSION Serum PAPP-A,TG,and 25-(OH)D levels are all correlated with blood glucose changes in GDM,and are independent factors affecting the occurrence of GDM and have certain value in the diagnosis of GDM.展开更多
《地理教育国际宪章》明确指出,帮助学生理解人地关系对于可持续发展教育具有重要价值。其中,人地协调观作为地理学的基本价值理念,是高等教育阶段核心素养培养的重要目标。然而,当前关于人地协调观的评测研究主要集中于基础地理教育领...《地理教育国际宪章》明确指出,帮助学生理解人地关系对于可持续发展教育具有重要价值。其中,人地协调观作为地理学的基本价值理念,是高等教育阶段核心素养培养的重要目标。然而,当前关于人地协调观的评测研究主要集中于基础地理教育领域,且以纸笔测试或问卷量表等外显测量方法为主。本研究选取中国一所综合性大学的地理专业与非地理专业三、四年级本科生作为参与者,首先通过文献分析法和德菲尔法收集词汇设计实验,然后分别通过内隐联想测验(Implicit Association Test, IAT)和量表法获取大学生对人地协调观的内隐态度和外显态度数据,最后结合访谈对评测结果进行三角验证。结果发现:(1)大学生的IAT效应值与外显测量得分均较高,普遍表现出了积极的人地协调观认同;(2)地理专业学生的IAT效应值显著高于非地理专业学生,显示出明显的内隐联结强度差异;(3)地理专业学生在相容任务与不相容任务中的反应时均显著长于非地理专业学生;(4)人地协调观的内隐认同与外显认同存在分离效应,验证了IAT用于人地协调观测量的有效性和价值。上述发现不仅验证了地理专业对培养大学生人地协调观的积极作用,同时为地理教育改革提供了外显态度与内隐态度双重视角测量证据,对提升大学生的地理核心素养具有实践启示。展开更多
为深入挖掘玉米籽粒容重的相关优势基因,以348份包含普通玉米、甜玉米、糯玉米、爆裂玉米等遗传多样性丰富的玉米自交系为关联群体进行全基因组关联分析(Genome-Wide Association Study,GWAS),分别对2022年浙江东阳、2022和2023年海南...为深入挖掘玉米籽粒容重的相关优势基因,以348份包含普通玉米、甜玉米、糯玉米、爆裂玉米等遗传多样性丰富的玉米自交系为关联群体进行全基因组关联分析(Genome-Wide Association Study,GWAS),分别对2022年浙江东阳、2022和2023年海南乐东收获的自交系种子进行容重测定和全基因组关联分析,分析不同品种玉米籽粒容重性状差异,挖掘容重相关位点和控制容重的候选基因。结果表明:浙江东阳和海南乐东的玉米籽粒容重性状指标的频率分布呈单峰型曲线,符合正态分布。利用SNP标记全基因组关联分析,以阈值P>8.7筛选出与玉米籽粒容重性状显著相关的SNP位点,2022年浙江东阳地区筛选出SNP位点146个,2022年海南乐东地区筛选出261个,2023年海南乐东地区筛选出705个,重叠SNP位点共67个,最终在相关SNP位点附近筛选出候选基因14个。其中,同时在浙江东阳(2022年)、海南乐东(2022和2023年)不同环境下均检测到的SNP S3_219692500位于Zm00001d044129(Shrunken2)基因区域,该基因为玉米甜度控制基因,即该基因突变后产生超甜玉米,籽粒皱缩,玉米容重下降。展开更多
基金supported by the Programme Blanc de l’Agence National de la Recherche.
文摘Family-based tests of association between a genetic marker and a disease constitute a common design to dissect the genetic architecture of complex traits. The FBAT software is one of the most popular tools to perform such studies. However, researchers are also often interested in the genetic contribution to a more specific manifestation of the phenotype (e.g. severe vs. non-severe form) known as a secondary outcome. Here, what we demonstrate is the limited power of the classical formulation of the FBAT statistic to detect the effect of genetic variants that influence a secondary outcome, in particular when these variants also impact on the onset of the disease, the primary outcome. We prove that this loss of power is driven by an implicit hypothesis, and we propose a derivation of the original FBAT statistic, free from this implicit hypothesis. Finally, we demonstrate analytically that our new statistic is robust and more powerful than FBAT for the detection of association between a genetic variant and a secondary outcome.
文摘BACKGROUND Insulin resistance is a cardiometabolic risk factor characterized by elevated insulin levels.It is associated with fatty liver disease and elevated liver function tests(LFT)in cross-sectional studies,but data from cohort studies are scarce.AIM To investigate the association between insulin and pathological LFT,liver disease,and cirrhosis in a populationbased retrospective cohort study.METHODS Anthropometric and cardiometabolic factors of 857 men and 1228 women from prospective cohort studies were used.LFT were obtained at two time points 8 years to 24 years after baseline.Liver disease diagnoses were obtained from nationwide registries.The association between insulin levels and the development of elevated LFT or liver disease and cirrhosis was analyzed.RESULTS Total follow-up was 54054 person-years for women and 27556 person-years for men.Insulin levels were positively correlated with elevated LFT during follow-up,whereas physical activity and coffee consumption were negatively correlated.Individuals with both insulin levels in the upper tertile and alcohol consumption above MASLD thresholds had an increased risk for both liver disease,adjusted hazard ratio(aHR)of 4.3(95%CI:1.6-14.6)and cirrhosis(aHR=4.8,95%CI:1.6-14.6).CONCLUSION This population-based study provides evidence that high insulin levels are a risk factor for development of elevated liver enzymes and clinically manifest liver disease.The results support the concept of metabolic dysfunction associated liver disease.
基金supported by the National Natural Science Foundation of China(61872157,61932008,61532008)the Key Research and Development Program of Hubei Province(2020BAB017)。
文摘The dysbiosis of microbiome may have negative effects on a host phenotype.The microbes related to the host phenotype are regarded as microbial association signals.Recently,statistical methods based on microbiome-phenotype association tests have been extensively developed to detect these association signals.However,the currently available methods do not perform well to detect microbial association signals when dealing with diverse sparsity levels(i.e.,sparse,low sparse,non-sparse).Actually,the real association patterns related to different host phenotypes are not unique.Here,we propose a powerful and adaptive microbiome-based association test to detect microbial association signals with diverse sparsity levels,designated as MiATDS.In particular,we define probability degree to measure the associations between microbes and the host phenotype and introduce the adaptive weighted sum of powered score tests by considering both probability degree and phylogenetic information.We design numerous simulation experiments for the task of detecting association signals with diverse sparsity levels to prove the performance of the method.We find that type I error rates can be well-controlled and MiATDS shows superior efficiency on the power.By applying to real data analysis,MiATDS displays reliable practicability too.The R package is available at https://github.com/XiaoyunHuang33/MiATDS.
文摘Genetic association studies usually apply the simple chi-square (χ<sup>2</sup>)-test for testing association between a single-nucleotide polymorphism (SNP) and a particular phenotype, assuming the genotypes and phenotypes are independent. So, the conventional χ<sup>2</sup>-test does not consider the increased risk of an individual carrying the increasing number of disease responsible allele (a particular genotype). But, the association tests should be performed with the consideration of this disease risk according to the mode of inheritance (additive, dominant, recessive). Practical demonstration of the two possible methods for considering such order or trends in contingency tables of genetic association studies using SNP genotype data is the purpose of this paper. One method is by pooling the genotypes, and the other is scoring the individual genotypes, based on the disease risk according to the inheritance pattern. The results show that the p-values obtained from both the methods are similar for the dominant and recessive models. The other important features of the methods were also extracted using the SNP genotype data for different inheritance patterns.
基金Supported by School of Graduate Studies through Aklilu LemmaInstitute of Pathobiology,Addis Ababa University(No:RDP/Py-014/09)
文摘Objective:To assess the distribution of ABO blood group and their relationship with Plasmodium falciparum(P.falciparum) malaria among febrile outpatients who sought medical attention at Dore Bafeno Health Center,Southern Ethiopia.Methods:A total of 269 febrile outpatients who visited Dore Bafeno Health Center,Southern Ethiopia,were examined for malaria and also tested for ABO blood groups in January 2010.The blood specimens were collected by finger pricking,stained with Geimsa,and examined microscopically.Positive cases of the parasitemia were counted.CareStart^(TM) Malaria PflPv Combo was also used to test the blood specimens for malaria.ABO blood groups were determined by agglutination test using ERYCLONE antisera.Data on socio-demographic characteristics and treatment status of the participants were also collected.Chi-square and ANOVA tests were used to assess the difference between frequencies and means,respectively.Results:Out of a total of 269 participants,178(66.2%) febrile patients were found to be infected with Plasmodium parasites,among which 146(54.3%),28(10.4%),and 4(1.5%) belonged to P.falciparum,P.vivax,and mixed infections,respectively.All febrile patients were also tested for ABO blood groups and 51.3%,23.5%,21.9%and 3.3%were found to be blood types of 0,A,B and AB,respectively.Both total malaria infection and P.falciparum infection showed significant association with blood types(P<0.05).The proportion of A or B but not 0 phenotypes was higher(P<0.05) in individuals with P.falciparum as compared with non-infected individuals.The chance of having P.falciparum infection in patients with blood groups A,B and AB was 2.5,2.5 and 3.3times more than individuals showing blood 0 phenotypes,respectively.The mean P.falciparum malaria parasitemia for blood groups A,B,AB,and 0 were 3 744/μ L,1 805/ μ L,5 331/μ L,and1 515/μ L,respectively(P<0.01).Conclusions:The present findings indicate that individuals of blood groups A,B and AB are more susceptible to P.falciparum infection as compared with individuals of blood group O.Nevertheless,further in depth studies are required to clearly establish the role that ABO blood group plays in P.falciparum malaria.
文摘OBJECTIVE： To recognize the significances of the classification, evaluation, treatment, pathogenesis, etiological factors and related loci of hemispatial neglect （HSN） in the treatment and prognosis of stroke patients. DATA SOURCES： Articles related to HSN in stroke published in English from January 1985 to December 2002 were searched in Medline database by using the keywords of ＂stroke, hemispatial neglect （HSN）, rehabilitation＂. Chinese relevant professional works and articles were also referred to. STUDY SELECTION： The data were primarily checked. Inclusive criteria： ① articles about the HSN symptoms in stroke; ② articles about the classification, evaluation, treatment, pathogenesis, etiological factors and related loci of HSN, as well as the treatment and prognosis of stroke. The repetitive studies or reviews were excluded. DATA EXTRACTION ： Totally 474 articles related to HSN in stroke were collected, 43 of them were involved and 431 repetitive studies or reviews were excluded. DATA SYNTHESES： HSN can be classified as sensory neglect and motor neglect. Because HSN is caused by the injury of network structure which mediated directed attention, it is generally believed that the inferior parietal Iobule of dominant hemisphere is the most closely correlated with neglect. The main theories related to the pathogenesis of HSN at present include ＂internal instruction＂, ＂directed bradykinesia＂, ＂sensory attention＂, etc. The main clinical manifestations are setover in drawing lines, picture drawing towards one side, imitation towards one side, picture description towards one side, etc., which can be evaluated by the line bisection test, target cancellation test, picture drawing test and pegboard test. The most important thing for the treatment is to make the patients continuously concentrate on the neglected side. CONCLUSION： HSN is an indicator for the bad outcome of cerebrovascular disease, the symptoms take longer time to rehabilitate with slow recovery, but quite a few HSN patients will get good prognosis if timely treatment and proper program are given.
文摘Introduction Difficulties in accessing the screening test for viral hepatitis B in maternity wards could be a factor in underestimating the prevalence of anti-HBV antibodies. The rapid diagnostic orientation test (RDOT) could improve seroprevalence and obstetrical prognosis. The aim of this study was to use the rapid diagnostic orientation test (RDOT) to determine the seroprevalence of HBs antigen carriage in pregnant women while highlighting the associated factors. Methods This was a cross-sectional and descriptive study that took place from October to December 2020 (three months) in three (03) reference maternities in western Benin (Mono). Consenting pregnant women received in prenatal consultation had been screened by RDOT. Positive cases were confirmed by ELISA test. The follow-up of these cases made it possible to establish the obstetrical prognosis. Results Of 201 women studied, 11 (5.5%) were positive for RDOT HBV and confirmed by the ELISA test. The factors associated with HBsAg carriage during pregnancy were multiple sexual partnerships (p = 0.01), female circumcision (p = 0.0001), and ignorance of prior HBV serological status (p = 0.0001). No influence of hepatitis B on pregnancy was noted. Conclusion The seroprevalence of hepatitis B in pregnancy was intermediate in the reference maternities of western Benin. The associated factors were multiple sexual partnerships, female circumcision and unawareness of prior HBV status. Free RDOT in maternity wards would improve early detection and management of viral hepatitis B in pregnancy.
基金Supported by National Natural Science Foundation of China(Grant Nos.12271370 and 12371294)the Youth Academic Innovation Team Construction project of the Capital University of Economics and Business(Grant No.QNTD202303)New Young Teachers’Research Initiation Fund Project,Capital University of Economics and Business(Grant No.XRZ2021046)。
文摘Testing the association of two high-dimensional random vectors is of fundamental importance in the statistical theory and applications.In this paper,we propose a new test statistic based on the Frobenius norm and subtracting bias technique,which is generally applicable to high-dimensional data without restricting the distributional Assumptions.The limiting null distribution of the proposed test is shown to be a random variable combining a finite chi-squared-type mixture with a normal approximation.Our proposed test method can also be a normal approximation or a finite chi-squared-type mixtures under additional regularity conditions.To make the test statistic applicable,we introduce a wild bootstrap method and demonstrate its validity.The finite-sample performance of the proposed test via Monte Carlo simulations reveals that it performs better at controlling the empirical size than some existing tests,even when the normal approximation is invalid.Real data analysis is devoted to illustrating the proposed test.
文摘Inferences of subtle cerebral injury and dysfunction have been historically dependent upon psychometric tests from which clinical neuropsychological profiles are generated. In addition to being secondary, over-inclusive and crude indicators of cerebral activity, psychometric tests are subject to economic incentives to “re-norm” traditional methods under the pretense of “ensuring” contemporary representations that are sanctioned by regulating organizations dominated by agendas of control over the interpretations of clinicians. The validity of neuropsychological tests is essential for their perspicacious application and interpretations. We measured the quantitative electroen-cephalographic profiles and calculated s-LORETA (standardized Low Resolution Electromagnetic Tomography) profiles in real time for normal men and women while they engaged in both traditional and novel neuropsychological tests that were employed to infer localized brain injury. Conspicuous alterations in source current density within specific frequency bands occurred within various regions of the right prefrontal region during performance of the Category, Design Fluency and Conditioned Spatial Association Test, the prefrontal medial surface during Toe Graphaesthesia, the caudal medial surface during Toe Gnosis, the left temporal region during Speech-Sounds, and within the right retrosplenial-parahippocampal region for Seashore Rhythms. Results supported the well established regional associations with the classic neuropsychological tests, verified the cerebral localization with more recent procedures, and emphasized the utility of modern real-time, direct cerebral imaging procedures.
基金funded by China-US Collaboration on HIV/AIDS(Grant#5U2GGH001153)China National Health&Family Planning Commission(131-16-000-105-02)
文摘Objective To examine HIV self-testing uptake and its determinates among men who have sex with men （MSM） in Beijing, China. Methods A cross-sectional online survey was conducted in Beijing, China in 2016. Participants were users of a popular Chinese gay networking application and had an unknown or negative HIV status. Univariate and multivariate logistic regression analyses were conducted to examine factors associated with HIV self-testing based on adjusted odds ratio （AOR） and 95% confidence interval （CI）. Results Among the 5,996 MSM included in the study, 2,383 （39.7%） reported to have used HIV self-testing kits. Willingness to use an HIV self-test kit in the future was expressed by 92% of the participants. High monthly income （AOR = 1.49; CI = 1.10-2.02; P = 0.010）, large number of male sex partners （≥2： AOR = 1.24; CI = 2.09-1.43; P = 0.002）, sexual activity with commercial male sex partners （〉 2： AOR = 1.94; CI = 1.34 -2.82; P = 0.001）, long-term drug use （AOR = 1.42; CI = 1.23-1.62; P 〈 0.001）, and long-term HIV voluntary counseling and testing （VCT） attendance （AOR = 3.62; CI = 3.11-4.22; P 〈 0.001） were all associated with increased odds of HIV self-testing uptake. Conclusion The nearly 40% rate of HIV self-testing uptake among MSM in our sample was high. In addition, an over 90% willingness to use kits in the future was encouraging. HIV self-testing could be an important solution to help China achieve the global target of having 90% of all people living with HIV diagnosed by 2020.
文摘Non-compliance with respiratory protection programs among firefighters may put them at increased risk of injury and illness from occupational exposures during fire extinguishing activities. This research aims to characterize respiratory protection practices among Florida firefighters. This information will allow better understanding of factors that are associated with non-compliance with respiratory protection guidelines. A survey questionnaire was used to characterize Florida fire departments in this cross-sectional study. Four hundred and seventy-seven surveys were administered to Florida firefighters both in person and electronically to collect information regarding firefighter knowledge and participation in their respective respiratory protection programs during the past twelve months. Survey questions were developed from the model set by the National Fire Protection Association (NFPA) which provides standards and regulations regarding firefighter protections. Summary statistics regarding firefighter department size, coverage area, and firefighter employment type were produced. Multinomial logistic regression analysis was performed to evaluate factors that impact respiratory protection programs. The 477 respondents were 91% male with a mean age of 39 years old (range 21 - 65 years). The majority of respondents, 76%, were non-smokers, 21% former smokers, and 3% current smokers. In regard to ethnicity, respondents were 77% Caucasian, 13% Hispanic, 3% African American, and 4% other. Most respondents were career firefighters, 97%, with less than ten years of experience, 44%, working in a fire department with at least 21 firefighters, 98%. Most respondents, 80%, had a written respiratory program in place. The most cited reason for not having implemented a written respiratory protection program was lack of knowledge related to the program. Multinomial logistic regression analysis of departments with response areas of at least 250,000 square miles produced a statistically significant 0.444 (0.219 - 0.901 CI) odds ratio for having a written respiratory program as compared to those with a less than 10,000 square miles response area. Additional resources need to be given to Florida fire departments to ensure that all firefighters receive adequate respiratory protection in accordance with NFPA guidelines. There is an association between fire departments with large response areas and non-compliance with respiratory protection guidelines in regard to: having a written respiratory program, the frequency of respiratory fit testing, and the frequency of medical fitness testing. This suggests that rural fire departments need additional resources to ensure firefighters are adequately protected. Additional research should focus on why these differences exist in the rural fire departments. Respondents stating a lack of knowledge or no requirement for a written respiratory program suggest that future efforts should focus on respiratory protection education and training.
文摘BACKGROUND Gestational diabetes mellitus(GDM)is a concern due to its rapid increase in incidence in recent years.AIM To investigate the correlation and predictive value of serum pregnancyassociated plasma protein A(PAPP-A),triglyceride(TG),and 25-hydroxyvitamin D[25-(OH)D]with GDM in early pregnancy.METHODS A total of 99 patients in early pregnancy admitted to Peking University International Hospital from November 2015 to September 2017 were included,and underwent a fasting glucose test and oral glucose tolerance test screening at 24-28 wk of pregnancy.Of these cases with GDM,51 were assigned to group A and the remaining 48 cases without GDM were enrolled in group B.Serum PAPP-A,TG and 25-(OH)D in the two groups were compared and their correlation with blood sugar was analyzed.In addition,their diagnostic value in GDM was determined using receiver operating characteristic(ROC)curve analysis.RESULTS Group A had markedly lower serum PAPP-A and 25-(OH)D levels and a significantly higher serum TG level than group B,with statistical significance(P<0.05).Furthermore,Pearson analysis identified that PAPP-A and 25-(OH)D levels were negatively correlated with fasting blood glucose(FBG)levels(r=-0.605,P<0.001),(r=-0.597,P<0.001),while TG and FBG levels were positively correlated(r=0.628,P<0.001).The sensitivity,specificity,area under the curve(AUC)and optimal cut-off value of serum PAPP-A level in the diagnosis of GDM were 72.55%,82.35%,0.861 and 16.340,respectively,while the sensitivity of TG in diagnosing GDM was 86.27%,the specificity was 66.67%,the AUC was 0.813,with an optimal cut-off value of 1.796.The corresponding sensitivity,specificity,AUC and optimal cut-off value of serum 25-(OH)D were 64.71%,70.59%,0.721 and 23.140,respectively.Moreover,multivariate logistic regression analysis revealed that FBG,vascular endothelial growth factor,Flt-1,serum PAPP-A,TG,and 25-(OH)D were related risk factors leading to GDM in patients.CONCLUSION Serum PAPP-A,TG,and 25-(OH)D levels are all correlated with blood glucose changes in GDM,and are independent factors affecting the occurrence of GDM and have certain value in the diagnosis of GDM.
文摘《地理教育国际宪章》明确指出,帮助学生理解人地关系对于可持续发展教育具有重要价值。其中,人地协调观作为地理学的基本价值理念,是高等教育阶段核心素养培养的重要目标。然而,当前关于人地协调观的评测研究主要集中于基础地理教育领域,且以纸笔测试或问卷量表等外显测量方法为主。本研究选取中国一所综合性大学的地理专业与非地理专业三、四年级本科生作为参与者,首先通过文献分析法和德菲尔法收集词汇设计实验,然后分别通过内隐联想测验(Implicit Association Test, IAT)和量表法获取大学生对人地协调观的内隐态度和外显态度数据,最后结合访谈对评测结果进行三角验证。结果发现:(1)大学生的IAT效应值与外显测量得分均较高,普遍表现出了积极的人地协调观认同;(2)地理专业学生的IAT效应值显著高于非地理专业学生,显示出明显的内隐联结强度差异;(3)地理专业学生在相容任务与不相容任务中的反应时均显著长于非地理专业学生;(4)人地协调观的内隐认同与外显认同存在分离效应,验证了IAT用于人地协调观测量的有效性和价值。上述发现不仅验证了地理专业对培养大学生人地协调观的积极作用,同时为地理教育改革提供了外显态度与内隐态度双重视角测量证据,对提升大学生的地理核心素养具有实践启示。
文摘为深入挖掘玉米籽粒容重的相关优势基因,以348份包含普通玉米、甜玉米、糯玉米、爆裂玉米等遗传多样性丰富的玉米自交系为关联群体进行全基因组关联分析(Genome-Wide Association Study,GWAS),分别对2022年浙江东阳、2022和2023年海南乐东收获的自交系种子进行容重测定和全基因组关联分析,分析不同品种玉米籽粒容重性状差异,挖掘容重相关位点和控制容重的候选基因。结果表明:浙江东阳和海南乐东的玉米籽粒容重性状指标的频率分布呈单峰型曲线,符合正态分布。利用SNP标记全基因组关联分析,以阈值P>8.7筛选出与玉米籽粒容重性状显著相关的SNP位点,2022年浙江东阳地区筛选出SNP位点146个,2022年海南乐东地区筛选出261个,2023年海南乐东地区筛选出705个,重叠SNP位点共67个,最终在相关SNP位点附近筛选出候选基因14个。其中,同时在浙江东阳(2022年)、海南乐东(2022和2023年)不同环境下均检测到的SNP S3_219692500位于Zm00001d044129(Shrunken2)基因区域,该基因为玉米甜度控制基因,即该基因突变后产生超甜玉米,籽粒皱缩,玉米容重下降。
