Celiac disease(CD)is a systemic autoimmune disorder triggered by gluten ingestion ingenetically predisposed individuals.It is characterized by intestinal histological damage and the production of specific autoantibodi...Celiac disease(CD)is a systemic autoimmune disorder triggered by gluten ingestion ingenetically predisposed individuals.It is characterized by intestinal histological damage and the production of specific autoantibodies.The latest European Society for Paediatric Gastroenterology,Hepatology,and Nutrition(ESPGHAN)2020 guidelines have excluded human leukocyte antigen(HLA)genotyping from the no-biopsy diagnostic approach due to its weak positive predictive value,limited availability,and high cost in some countries.However,HLA genetic testing remains valuable in certain clinical contexts.This study provided practical indications for when to request and how to interpret HLA genotyping,emphasizing its continued relevance for CD diagnosis in specific cases.We also proposed a strategy for monitoring the risk of developing type 1 diabetes(T1D)in patients with CD,based on the risk stratification carried by different HLA genotypes.A retrospective analysis of 746 patients with CD and 627 controls was conducted at our hospital starting in2012,when HLA genotyping became mandatory for the diagnosis of CD.We identified key clinical scenarios where HLA testing remains useful.Several high risk HLA-DQ genotypes strongly associated with CD were highlighted,including HLA-DQ2.5/HLA-DQ2.2and HLA-DQ2.5/HLA-DQ2.5.Notably,while the HLA-DQ2.5/HLA-DQ2.2 genotype is linked to CD,it appears to confer protection against T1D.To support clinical practice,we presented a table clarifying commonly used HLA terminology,and another summarized the main clinical situations in which HLAgenotyping should still be considered.These findings underscore the dual role of HLA testing:Not only can it help rule out CD in selected cases,but it also identifies patients with CD at risk for T1D,guiding personalized monitoring strategies.展开更多
目的研究大连市2023—2024年分离的18株布鲁氏菌基因组特征,为布鲁氏菌分子溯源、毒力基因分析以及耐药机制的研究提供数据支持。方法对大连市2023—2024年分离自患者的18株布鲁氏菌进行生化鉴定和全基因组测序,利用基因组分析软件对全...目的研究大连市2023—2024年分离的18株布鲁氏菌基因组特征,为布鲁氏菌分子溯源、毒力基因分析以及耐药机制的研究提供数据支持。方法对大连市2023—2024年分离自患者的18株布鲁氏菌进行生化鉴定和全基因组测序,利用基因组分析软件对全基因组数据进行质控和基因组组装,同时从NCBI下载布鲁氏菌基因组序列,对组装基因组开展多位点序列分型(MLST)、全基因组单核苷酸多态性分析(whole-genome Single Nucleotide Polymorphism,wgSNP)、毒力基因和耐药基因分析。结果MLST分型结果:18株布鲁氏菌均为羊种布鲁氏菌ST8型。wgSNP结果:18株本地菌株和其他22株菌株被分为40个SNP型,所有菌株间均存在SNP差异,总SNP数为20590。通过系统发育分析,40株菌被分为3个主进化分支,2株本地菌株与呼和浩特、河北分离的菌株亲缘关系较近,位于主进化分支1上;4株本地菌株与通辽分离的菌株亲缘关系较近,位于主进化分支2上;其余12株本地菌株与其他19株菌株亲缘关系较近,均位于主进化分支3上,12株本地菌株与2株北京分离株、2株呼伦贝尔分离株位于主进化分支3的亚分支3b上,其他种的布鲁氏菌参考株均位于主进化分支3的亚分支3a上。DL230017BRU与DL231021BRU、DL240794BRU与DL240723BRU之间的SNP数均为2。18株菌株均有LPS、T4SS等13种毒力基因和adeF、Brucella suis mprF两种耐药基因。结论没有足够的流行病学信息支持这18株菌株为同一来源,且部分菌株与国内其他地区分离的菌株亲缘关系较近,但这些菌株具有潜在的致病性和耐药性,有必要开展连续监测,为布鲁氏菌病防控提供依据。展开更多
The information from sparsely logged wellbores is currently under-utilized in reservoir simulation models and their proxies using deep and machine learning (DL/ML).This is particularly problematic for large heterogene...The information from sparsely logged wellbores is currently under-utilized in reservoir simulation models and their proxies using deep and machine learning (DL/ML).This is particularly problematic for large heterogeneous gas/oil reservoirs being considered for repurposing as gas storage reservoirs for CH_(4),CO_(2) or H_(2) and/or enhanced oil recovery technologies.Lack of well-log data leads to inadequate spatial definition of complex models due to the large uncertainties associated with the extrapolation of petrophysical rock types (PRT) calibrated with limited core data across heterogeneous and/or anisotropic reservoirs.Extracting well-log attributes from the few well logs available in many wells and tying PRT predictions based on them to seismic data has the potential to substantially improve the confidence in PRT 3D-mapping across such reservoirs.That process becomes more efficient when coupled with DL/ML models incorporating feature importance and optimized,dual-objective feature selection techniques.展开更多
基金Supported by Fondazione di Sardegna,No.2020.2284.
文摘Celiac disease(CD)is a systemic autoimmune disorder triggered by gluten ingestion ingenetically predisposed individuals.It is characterized by intestinal histological damage and the production of specific autoantibodies.The latest European Society for Paediatric Gastroenterology,Hepatology,and Nutrition(ESPGHAN)2020 guidelines have excluded human leukocyte antigen(HLA)genotyping from the no-biopsy diagnostic approach due to its weak positive predictive value,limited availability,and high cost in some countries.However,HLA genetic testing remains valuable in certain clinical contexts.This study provided practical indications for when to request and how to interpret HLA genotyping,emphasizing its continued relevance for CD diagnosis in specific cases.We also proposed a strategy for monitoring the risk of developing type 1 diabetes(T1D)in patients with CD,based on the risk stratification carried by different HLA genotypes.A retrospective analysis of 746 patients with CD and 627 controls was conducted at our hospital starting in2012,when HLA genotyping became mandatory for the diagnosis of CD.We identified key clinical scenarios where HLA testing remains useful.Several high risk HLA-DQ genotypes strongly associated with CD were highlighted,including HLA-DQ2.5/HLA-DQ2.2and HLA-DQ2.5/HLA-DQ2.5.Notably,while the HLA-DQ2.5/HLA-DQ2.2 genotype is linked to CD,it appears to confer protection against T1D.To support clinical practice,we presented a table clarifying commonly used HLA terminology,and another summarized the main clinical situations in which HLAgenotyping should still be considered.These findings underscore the dual role of HLA testing:Not only can it help rule out CD in selected cases,but it also identifies patients with CD at risk for T1D,guiding personalized monitoring strategies.
文摘目的研究大连市2023—2024年分离的18株布鲁氏菌基因组特征,为布鲁氏菌分子溯源、毒力基因分析以及耐药机制的研究提供数据支持。方法对大连市2023—2024年分离自患者的18株布鲁氏菌进行生化鉴定和全基因组测序,利用基因组分析软件对全基因组数据进行质控和基因组组装,同时从NCBI下载布鲁氏菌基因组序列,对组装基因组开展多位点序列分型(MLST)、全基因组单核苷酸多态性分析(whole-genome Single Nucleotide Polymorphism,wgSNP)、毒力基因和耐药基因分析。结果MLST分型结果:18株布鲁氏菌均为羊种布鲁氏菌ST8型。wgSNP结果:18株本地菌株和其他22株菌株被分为40个SNP型,所有菌株间均存在SNP差异,总SNP数为20590。通过系统发育分析,40株菌被分为3个主进化分支,2株本地菌株与呼和浩特、河北分离的菌株亲缘关系较近,位于主进化分支1上;4株本地菌株与通辽分离的菌株亲缘关系较近,位于主进化分支2上;其余12株本地菌株与其他19株菌株亲缘关系较近,均位于主进化分支3上,12株本地菌株与2株北京分离株、2株呼伦贝尔分离株位于主进化分支3的亚分支3b上,其他种的布鲁氏菌参考株均位于主进化分支3的亚分支3a上。DL230017BRU与DL231021BRU、DL240794BRU与DL240723BRU之间的SNP数均为2。18株菌株均有LPS、T4SS等13种毒力基因和adeF、Brucella suis mprF两种耐药基因。结论没有足够的流行病学信息支持这18株菌株为同一来源,且部分菌株与国内其他地区分离的菌株亲缘关系较近,但这些菌株具有潜在的致病性和耐药性,有必要开展连续监测,为布鲁氏菌病防控提供依据。
文摘The information from sparsely logged wellbores is currently under-utilized in reservoir simulation models and their proxies using deep and machine learning (DL/ML).This is particularly problematic for large heterogeneous gas/oil reservoirs being considered for repurposing as gas storage reservoirs for CH_(4),CO_(2) or H_(2) and/or enhanced oil recovery technologies.Lack of well-log data leads to inadequate spatial definition of complex models due to the large uncertainties associated with the extrapolation of petrophysical rock types (PRT) calibrated with limited core data across heterogeneous and/or anisotropic reservoirs.Extracting well-log attributes from the few well logs available in many wells and tying PRT predictions based on them to seismic data has the potential to substantially improve the confidence in PRT 3D-mapping across such reservoirs.That process becomes more efficient when coupled with DL/ML models incorporating feature importance and optimized,dual-objective feature selection techniques.
