检索结果-南通市图书馆

High-dimensional supervised classification in a context of non-independence of observations to identify the determining SNPs in a phenotype

在线全文

学校读者我要写书评

暂无评论

Infectious Disease Modelling 2023年第4期8卷 1079-1087页

作者： Aboubacry Gaye Abdou Ka Diongue Lionel Nanguep Komen Amadou Diallo Seydou Nourou Sylla Maryam Diarra Cheikh Talla Cheikh Loucoubar Laboratory for Studies and Research in Statistics and Development Gaston Berger University of Saint LouisSenegal Epidemiology Clinical Research and Data Science UnitInstitute Pasteur de Dakar220DakarSenegal African Institute for Mathematical Sciences(AIMS) Senegal Information and Communication Technologies for Development Alioune Diop University of BambeySenegal

This work addresses the problem of supervised classification for highly correlated highdimensional data describing non-independent observations to identify SNPs related to a *** use a general penalized linear mixed model with a single random effect that performs simultaneous SNP selection and population structure adjustment in highdimensional prediction ***,the model simultaneously selects variables and estimates their effects,taking into account correlations between *** nucleotide polymorphisms(SNPs)are a type of genetic variation and each SNP represents a difference in a single DNA building block,namely a *** research has shown that SNPs can be used to identify the correct source population of an individual and can act in isolation or simultaneously to impact a *** this regard,the study of the contribution of genetics in infectious disease phenotypes is of great *** this study,we used uncorrelated variables from the construction of blocks of correlated variables done in a previous work to describe the most related observations of the *** model was trained with 90%of the observations and tested with the remaining 10%.The best model obtained with the generalized information criterion(GIC)identified the SNP named rs2493311 located on the first chromosome of the gene called PRDM16((PR/SET domain 16))as the most decisive factor in malaria attacks.

关键词： Non independence of observations Correlated variables High-dimensional supervised classification SNP phenotype

Prevalence,phenotype and medication for the pediatric inflammatory bowel disease population of a state in Southeastern Brazil

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Clinical Pediatrics 2022年第4期11卷 341-350页

作者： Adalberta Lima Martins Renata de SáBrito Fróes Maria da Penha Zago-Gomes Pharmaceutical Assistance Health Department of Espírito SantoVitoria 29052-210Espírito SantoBrazil Department of Gastroenterology GastromedRio de Janeiro 22640-100Rio de JaneiroBrazil Departament of Medical Clinical Hospital Universitário Cassiano Antonio MoraesVitoria 29042-755Espírito SantoBrazil

BACKGROUND Inflammatory bowel disease(IBD)can lead to social and economic impacts *** Brazil,where its adult prevalence is increasing,the epidemiology of the pediatric population is not well known,although there is a documented increase in pediatric IBD incidence *** has continental dimensions,and Espírito Santo is a state of southeastern Brazil,the region with the highest demographic densities and is the economically most important in the *** To assess the prevalence,incidence,phenotype and medications in a Southeastern Brazilian pediatric *** Data were retrieved from the Public Medication-Dispensing System of the Department of Health in Espírito Santo state from documentation required to have access to highly expensive medication from August 1,2012 to July 31,*** were 1048 registered patients with IBD of all ages,and of these patients,the cases≤17 years were *** data were obtained through the analysis of administrative requests for these medications and included medical reports,endoscopy exams,histopathology and imaging tests,which followed the Clinical Protocols and Therapeutic Guidelines of the Brazilian *** confirmed cases of IBD were included in the *** There were 55 pediatric patients/1048 registered patients(5.34%),with Crohn's disease(CD)representing 30/55(55%),ulcerative colitis(UC)24/55(43.6%)and 1 unclassified IBD,a significant difference from adult patients(P=0.004).The prevalence of IBD in pediatric patients was 5.02 cases/100.000 inhabitants;the incidence in 2014 was 1.36 cases/100.000 *** mean age at diagnosis was 12.2 years(±4.2).There were 7 children diagnosed up to 6 years old,7 between 7 to 10 years old and 41 between 11 and≤17 years *** was no difference in the distribution of UC and CD between these age categories(P=0.743).There was no difference in gender distribution in relation to *** and adolescents with UC had a predominance of

关键词： Inflammatory bowel disease Pediatric Prevalence phenotype Brazil

Coexistent alcohol-related cirrhosis and chronic pancreatitis have a comparable phenotype to either disease alone:A comparative retrospective analysis

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Hepatology 2023年第3期15卷 431-440页

作者： Michael Lu Yujie Sun Robert Feldman Melissa Saul Andrew Althouse Gavin Arteel Dhiraj Yadav Department of Medicine University of Pittsburgh Medical CenterPittsburghPA 15213United States Department of Medicine Center for Research on Health Care DataPittsburghPA 15213United States Division of Gastroenterology Hepatologyand NutritionUniversity of Pittsburgh Medical CenterPittsburghPA 15213United States Department of Medicine Division of GastroenterologyHepatology and NutritionUniversity of Pittsburgh Medical CenterPittsburghPA 15213United States

BACKGROUND Alcohol use disorder is a prevalent disease in the United *** is a well-demonstrated cause of recurrent and long-standing liver and pancreatic injury which can lead to alcohol-related liver cirrhosis(ALC)and chronic pancreatitis(ACP).ALC and ACP are associated with significant healthcare utilization,cost burden,and *** prevalence of coexistent disease(CD)ranges widely in the literature and the intersection between ALC and ACP is inconsistently *** such,the clinical profile of coexistent ALC and ACP remains poorly *** hypothesized that patients with CD have a worse phenotype when compared to single organ *** To compare the clinical profile and outcomes of patients with CD from those with ALC or ACP *** In this retrospective comparative analysis,we reviewed international classi-fication of disease 9/10 codes and electronic health records of adult patients with verified ALC Only(n=135),ACP Only(n=87),and CD(n=133)who received care at UPMC Presbyterian-Shadyside *** was defined by histology,imaging or clinical evidence of cirrhosis or hepatic *** was defined by imaging findings of pancreatic calcifications,moderate-severe pancreatic duct dilatation,irregularity or *** compared demographics,pertinent clinical variables,healthcare utilization,and mortality for patients with CD with those who had single organ *** Compared to CD or ACP Only,patients with ALC Only were more likely to be older,Caucasian,have higher body mass index,and Hepatitis B or C *** patients(vs ALC Only)were less likely to have imaging evidence of cirrhosis and portal hypertension despite possessing similar MELD-Na and Child C scores at the most recent *** patients(vs ACP Only)were less likely to have acute or recurrent acute pancreatitis,diabetes mellitus,insulin use,oral pancreatic enzyme therapy,and need for endoscopic therapy or pancreatic *** number of hospitalizati

关键词： Alcohol Cirrhosis Chronic pancreatitis Overlap phenotype

phenotype prediction of nonsynonymous single nucleotide polymorphisms in human phase II drug/xenobiotic metabolizing enzymes: perspectives on molecular evolution

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Science China(Life Sciences) 2010年第10期53卷 1252-1262页

作者： HAO DaCheng XIAO PeiGen CHEN ShiLin Laboratory of Biotechnology College of EnvironmentDalian Jiaotong UniversityDalian 116028China Institute of Medicinal Plant Development Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100193China

Nonsynonymous single nucleotide polymorphisms (nsSNPs) in coding regions can lead to amino acid changes that might alter the protein’s function and account for susceptibility to disease and altered drug/xenobiotic response. Many nsSNPs have been found in genes encoding human phase II metabolizing enzymes; however, there is little known about the relationship between the genotype and phenotype of nsSNPs in these enzymes. We have identified 923 validated nsSNPs in 104 human phase II enzyme genes from the Ensembl genome database and the NCBI SNP database. Using PolyPhen, Panther, and SNAP algorithms, 44%?59% of nsSNPs in phase II enzyme genes were predicted to have functional impacts on protein function. Predictions largely agree with the available experimental annotations. 68% of deleterious nsSNPs were correctly predicted as damaging. This study also identified many amino acids that are likely to be functionally critical, but have not yet been studied experimentally. There was significant concordance between the predicted results of Panther and PolyPhen, and between SNAP non-neutral predictions and PolyPhen scores. Evolutionarily non-neutral (destabilizing) amino acid substitutions are thought to be the pathogenetic basis for the alteration of phase II enzyme activity and to be associated with disease susceptibility and drug/xenobiotic toxicity. Furthermore, the molecular evolutionary patterns of phase II enzymes were characterized with regards to the predicted deleterious nsSNPs.

关键词： phenotype PolyPhen Panther SNAP SNP phase II drug/xenobiotic metabolizing enzyme

Adaptive Multi-phenotype Based Gene Expression Programming Algorithm

在线全文

学校读者我要写书评

暂无评论

Chinese Journal of Electronics 2016年第5期25卷 807-816页

作者： LI Qu CHENG Hongbing YAO Min School of Computer Science and Technology Zhejiang University of Technology College of Computer Science Zhejiang University State Key Laboratory for Novel Software Technology Nanjing University

Expression theory is the mathematical foundation of evolutionary computation. In order to investigate the problems in Gene expression programming(GEP) expression theory, we clarified the difference between genotypic expression space and phenotypic expression space. We also presented phenotypic expression space definition and theory. Then we analyzed the reason of good and bad performance of different GEP algorithms based on expression space theory. We also proposed a new Adaptive multi-phenotype gene expression programming(AMGEP),in which the potential of genes is fully activated with gene combination. Experiments on benchmark problems showed that genotypic expression space and phenotypic expression space theory can explain the different performance of different algorithms and showed that AMGEP outperform other GEP algorithms in terms of search ability.

关键词： Gene expression programming(GEP) Genotype phenotype Population diversity

phenotype and treatment of chronic obstructive pulmonary disease

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Chinese Medical Journal 2014年第17期127卷 3041-3042页

作者： Song Yuanlin Wang Chen Department of Pulmonary Medicine Zhongshan Hospital Fudan University Shanghai 200032 China Department of Pulmonary and Critical Care Medicine Beijing Hospital Beijing 100730 China

Chronic obstructive pulmonary disease （COPD） is the most common chronic airway disease affecting Chinese population and it ranks number tour leading cause of death. The high mortality and morbidity, increased prevalence, significant loss of labor, and high medical expenditure warrants attention from the health organization and society to standardize the diagnosis and treatment of COPD. Overall COPD treatment efficacy has been significantly improved with application of long activating bronchial dilator （LABD）, due to the imbalance and geographically different distribution of medical resource and education, standardized treatment under COPD guideline remain the major protocol in a long time period in the future.

关键词： chronic obstructive pulmonary disease phenotype treatment

Classification of congenital cataracts based on multidimensional phenotypes and its association with visual outcomes

在线全文

学校读者我要写书评

暂无评论

International Journal of Ophthalmology(English edition) 2024年第3期17卷 473-479页

作者： Yuan Tan Ying-Shi Zou Ying-Lin Yu Le-Yi Hu Ting Zhang Hui Chen Ling Jin Duo-Ru Lin Yi-Zhi Liu Hao-Tian Lin Zhen-Zhen Liu State Key Laboratory of Ophthalmology Zhongshan Ophthalmic CenterSun Yat-sen UniversityGuangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceGuangdong Provincial Clinical Research Center for Ocular DiseasesGuangzhou 510060Guangdong ProvinceChina

●AIM:To establish a classification for congenital cataracts that can facilitate individualized treatment and help identify individuals with a high likelihood of different visual outcomes.●METHODS:Consecutive patients diagnosed with congenital cataracts and undergoing surgery between January 2005 and November 2021 were *** on visual outcomes and the phenotypic characteristics of ocular biometry and the anterior and posterior segments were extracted from the patients’medical records.A hierarchical cluster analysis was *** main outcome measure was the identification of distinct clusters of eyes with congenital cataracts.●RESULTS:A total of 164 children(299 eyes)were divided into two clusters based on their ocular *** 1(96 eyes)had a shorter axial length(mean±SD,19.44±1.68 mm),a low prevalence of macular abnormalities(1.04%),and no retinal abnormalities or posterior *** 2(203 eyes)had a greater axial length(mean±SD,20.42±2.10 mm)and a higher prevalence of macular abnormalities(8.37%),retinal abnormalities(98.52%),and posterior cataracts(4.93%).Compared with the eyes in Cluster 2(57.14%),those in Cluster 1(71.88%)had a 2.2 times higher chance of good best-corrected visual acuity[<0.7 logMAR;OR(95%CI),2.20(1.25–3.81);P=0.006].●CONCLUSION:This retrospective study categorizes congenital cataracts into two distinct clusters,each associated with a different likelihood of visual *** innovative classification may enable the personalization and prioritization of early interventions for patients who may gain the greatest benefit,thereby making strides toward precision medicine in the field of congenital cataracts.

关键词： classification congenital cataract phenotype visual acuity cluster analysis

Heterogeneity of chronic obstructive pulmonary disease:from phenotype to genotype

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Frontiers of Medicine 2013年第4期7卷 425-432页

作者： Xu Chen Xiaomao Xu Fei Xiao Key Laboratory of Geriatrics Beijing Institute of Geriatrics Department of Respiratory Medicine Beijing HospitalMinistry of HealthBeijing 100730China

Chronic obstructive pulmonary disease(COPD)is one of the leading causes of morbidity and mortality throughout the world and is mainly characterized by persistent airflow *** that multiple systems other than the lung can be impaired in COPD patients,the traditional FEV1/FVC ratio shows many limitations in COPD diagnosis and *** heterogeneities are found in terms of clinical manifestations,physiology,imaging findings,and inflammatory reactions in COPD patients;thus,phenotyping can provide effective information for the prognosis and ***,phenotypes are often based on symptoms or pathophysiological impairments in late-stage COPD,and the role of phenotypes in COPD prevention and early diagnosis remains *** shortcoming may be overcome by the potential genotypes defined by the heterogeneities in certain *** review briefly describes the heterogeneity of COPD,with focus on recent advances in the correlations between genotypes and *** potential roles of these genotypes and phenotypes in the molecular mechanisms and management of COPD are also elucidated.

关键词： chronic obstructive pulmonary disease heterogeneity phenotype genotype prediction

Kinetics of the phenotype and Function of Murine Peritoneal Macrophages Following Acute Inflammation

在线全文

学校读者我要写书评

暂无评论

Cellular & Molecular Immunology 2004年第1期1卷 57-62页

作者： QingliWu YonghongFeng YifuYang Jingliu WenliangZhou PeilanHe RuZhou XiaoyuLi JianpingZou LaboratoryofImmunopharmacology＆StateKeyLaboratoryofDrugResearch ShanghaiInstituteofMateriaMedica.ShanghaiInstitutesforBiologicalSciencesChineseAcademyofSciencesShanghai201203.China StateKeyLaboratoryofDrugResearch ShanghaiInstituteofMateriaMedica ShanghaiInstitutesforBilogicalSciences ChineseAcademyofSciences555ZuchongzhiRoadZhangjiangHi-TechParkShanghai201203China

This study was undertaken to have a better understand for the process and the underlying mechanisms to limit macrophage activation and population of activated macrophages.A comprehensive kinetics of cytokine production was performed in murine peritoneal macrophages recovered from Balb/c mice at various time during the course of an intraperitoneal injection with thioglycollate (TG).The expression of cell surface molecules such as MHC-Ⅰ,MHC-Ⅱ,B7-1 and B7-2 of these macrophages were also determined by flow *** present findings of our research suggested that the population of activated macrophages and the activation of macrophages (including cytokines production and expression of cell surface functional molecules) were strictly controlled during inflammation *** is one of the important mechanisms to retain the host *** & Molecular Immunology.2004;1(1):57-62.

关键词： macrophage cytokine phenotype self-regulation