keyword
https://read.qxmd.com/read/38443473/causal-relationship-between-telomere-length-and-sepsis-a-bidirectional-mendelian-randomization-study
#1
JOURNAL ARTICLE
Jiamin Xu, Gehua Zhu, Hongyan Zhang
Numerous observational studies have elucidated a connection between leukocyte telomere length (LTL) and sepsis, yet its fundamental cause remains enigmatic. Thus, the current study's objective is to employ a bidirectional Mendelian randomization (MR) approach to scrutinize the causality between LTL and sepsis. We selected single nucleotide polymorphisms (SNPs) associated with LTL (n = 472,174) and sepsis from a genome-wide association study (GWAS), including Sepsis (n = 486,484, ncase = 11,643), Sepsis (28 day death in critical care) (n = 431,365, ncase = 347), Sepsis (under 75) (n = 462,869, ncase = 11,568), Sepsis (28 day death) (n = 486,484, ncase = 1896), and Sepsis (critical care) (n = 431,365, ncase = 1380), as instrumental variables (IVs)...
March 5, 2024: Scientific Reports
https://read.qxmd.com/read/38369967/uromodulin-in-sepsis-and-severe-pneumonia-a-two-sample-mendelian-randomization-study
#2
JOURNAL ARTICLE
Mikael Eriksson, Miklós Lipcsey, Yann Ilboudo, Satoshi Yoshiji, Brent Richards, Michael Hultström
Outcome for sepsis-associated acute kidney injury (AKI) patients in the intensive care unit (ICU) remains poor. Low serum uromodulin (sUMOD) protein levels have been proposed as a causal mediator of this effect. We investigated the effect of different levels of sUMOD on the risk of sepsis and severe pneumonia and outcomes in these conditions. A two-sample Mendelian Randomization (MR) study was performed. Single nucleotide polymorphisms (SNPs) associated with increased levels of sUMOD were identified and used as instrumental variables for association with outcomes...
February 19, 2024: Physiological Genomics
https://read.qxmd.com/read/38339222/hypervirulent-capsular-serotypes-k1-and-k2-klebsiella-pneumoniae-strains-demonstrate-resistance-to-serum-bactericidal-activity-and-galleria-mellonella-lethality
#3
JOURNAL ARTICLE
Basaier Al-Busaidi, Muna Al-Muzahmi, Zahra Al-Shabibi, Meher Rizvi, Azza Al-Rashdi, Amina Al-Jardani, Robeena Farzand, Zaaima Al-Jabri
Hypervirulent Klebsiella pneumoniae (hvKp) is a variant that has been increasingly linked to severe, life-threatening infections including pyogenic liver abscess and bloodstream infections. HvKps belonging to the capsular serotypes K1 and K2 have been reported worldwide, however, very scarce studies are available on their genomics and virulence. In the current study, we report four hypermucoviscous extended-spectrum β-lactamase-producing hvKp clinical strains of capsular serotype K1 and K2 isolated from pus and urine of critically ill patients in tertiary care hospitals in Oman...
February 5, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38287361/severe-covid-19-and-chronic-kidney-disease-bidirectional-mendelian-randomization-study
#4
JOURNAL ARTICLE
Haishan Lin, Bangwei Cao
Traditional observational research has revealed an association between severe COVID-19 and chronic kidney disease (CKD). It is unclear whether there is a causative connection between them. Our goal was to determine whether genetically predicted CKD is associated with the risk of critical COVID-19. We aimed to investigate potential underlying genetic mechanisms that could explain this relationship, paving the way for personalized risk assessment and targeted interventions to mitigate the effects of COVID-19 on individuals with CKD...
January 29, 2024: Virology Journal
https://read.qxmd.com/read/38239409/a-genome-wide-association-study-of-serum-metabolite-profiles-in-septic-shock-patients
#5
JOURNAL ARTICLE
Emily R Daubney, Shannon D'Urso, Gabriel Cuellar-Partida, Dorrilyn Rajbhandari, Elizabeth Peach, Erika de Guzman, Colin McArthur, Andrew Rhodes, Jason Meyer, Simon Finfer, John Myburgh, Jeremy Cohen, Horst Joachim Schirra, Balasubramanian Venkatesh, David M Evans
OBJECTIVES: We sought to assess whether genetic associations with metabolite concentrations in septic shock patients could be used to identify pathways of potential importance for understanding sepsis pathophysiology. DESIGN: Retrospective multicenter cohort studies of septic shock patients. SETTING: All participants who were admitted to 27 participating hospital sites in three countries (Australia, New Zealand, and the United Kingdom) were eligible for inclusion...
January 2024: Critical care explorations
https://read.qxmd.com/read/38064241/17q21-variants-disturb-mucosal-host-defense-in-childhood-asthma
#6
JOURNAL ARTICLE
Constanze A Jakwerth, Markus Weckmann, Sabina Illi, Helen Charles, Ulrich M Zissler, Madlen Oelsner, Ferdinand Guerth, Jimmy Omony, Sai Sneha Priya Nemani, Ruth Grychtol, Anna-Maria Dittrich, Chrysanthi Skevaki, Svenja Foth, Stefanie Weber, Miguel A Alejandre Alcazar, Silke van Koningsbruggen-Rietschel, Robert Brock, Samira Blau, Gesine Hansen, Thomas Bahmer, Klaus F Rabe, Folke Brinkmann, Matthias Volkmar Kopp, Adam M Chaker, Bianca Schaub, Erika von Mutius, Carsten B Schmidt-Weber
RATIONALE: The strongest genetic risk factor for childhood-onset asthma, the 17q21 locus, is associated with increased viral susceptibility and disease-promoting processes. OBJECTIVES: To identify biological targets underlying the escalated viral susceptibility associated with the clinical phenotype mediated by the 17q21 locus. METHODS: Genome-wide transcriptome analysis of nasal brushes from 261 children (78 healthy, 79 preschool wheezers, 104 asthmatics) within the ALLIANCE cohort, with a median age of 10...
December 8, 2023: American Journal of Respiratory and Critical Care Medicine
https://read.qxmd.com/read/37927072/evaluation-of-supervised-machine-learning-algorithms-and-computational-structural-validation-of-single-nucleotide-polymorphisms-related-to-acute-liver-injury-with-paracetamol
#7
JOURNAL ARTICLE
Kannan Sridharan, Ambritha Balasundaram, Thirumal Kumar D, George Priya Doss C
AIMS: To identify single nucleotide polymorphisms (SNPs) of paracetamol-metabolizing enzymes that can predict acute liver injury. BACKGROUND: Paracetamol is a commonly administered analgesic/antipyretic in critically ill and chronic renal failure patients and several SNPs influence the therapeutic and toxic effects. OBJECTIVE: To evaluate the role of machine learning algorithms (MLAs) and bioinformatics tools to delineate the predictor SNPs as well as to understand their molecular dynamics...
November 3, 2023: Current Drug Metabolism
https://read.qxmd.com/read/37906154/-genetic-analysis-of-a-chinese-pedigree-affected-with-overgrowth-syndrome-due-to-a-small-supernumerary-marker-chromosome
#8
JOURNAL ARTICLE
Yuxia Jin, Suping Li
OBJECTIVE: To carry out genetic analysis for a Chinese pedigree affected with intellectual disability and overgrowth due to a supernumerary marker chromosome (sSMC). METHODS: A pedigree which had presented at Jiaxing Maternity and Child Health Care Hospital on August 31, 2021 was selected as the study subject, for which chromosomal karyotyping, single nucleotide polymorphism-based microarray (SNP-array), and fluorescence in situ hybridization (FISH) were carried out in combination...
November 10, 2023: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/37873708/-neutrophil-extracellular-trap-increase-the-risk-of-sepsis-a-two-sample-one-way-mendelian-randomization-study
#9
JOURNAL ARTICLE
Jian Wang, Yan Zhang, Lu Cheng, Yanxia Geng, Jun Lu, Jiang Zhou
OBJECTIVE: To investigate the causal relationship between neutrophil extracellular trap (NET) and sepsis based on Mendelian randomization analysis. METHODS: The genome wide association study (GWAS) dataset for the NET biomarker myeloperoxidase (MPO)-DNA complex based on Donkel et al. 's Rotterdam study (RS) and GWAS dataset for identifying sepsis from the UK biobank were selected to screen single nucleotide polymorphisms (SNPS) associated with MPO-DNA complex as instrumental variable (IV) for genetic variation, using MPO-DNA complex as exposure factor...
October 2023: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://read.qxmd.com/read/37844535/causal-relationship-between-asthma-and-inflammatory-bowel-disease-a-two-sample-bidirectional-mendelian-randomization-analysis
#10
JOURNAL ARTICLE
Jianxiong Lai, Bin Fang, Lirong Luo, Wenjie Xie, Yuanhui Xu, Jian Li
BACKGROUND: Based on the findings of current observational studies, asthma and inflammatory bowel disease (including Crohn's disease and ulcerative colitis) are associated; however, their causal association cannot be established due to methodological limitations. OBJECTIVES: we use two-sample bidirectional mendelian randomization (MR) to overcome the confounding factors and explore the causal link between asthma and inflammatory bowel disease. METHODS: After selecting asthma and IBD-related genome-wide association studies (GWAS) data and screening single nucleotide polymorphisms (SNPs), MR analysis was performed by four methods: inverse variance weighted (IVW), MR-Egger, maximum likelihood, and weighted median (WM), while Cochran's Q test was used to detect heterogeneity and MR-Egger intercept to detect horizontal pleiotropy...
October 14, 2023: Heart & Lung: the Journal of Critical Care
https://read.qxmd.com/read/37822034/exploring-factors-impacting-haplotype-based-noninvasive-prenatal-diagnosis-for-single-gene-recessive-disorders
#11
JOURNAL ARTICLE
Lingrong Kong, Shaojun Li, Zhenhua Zhao, Jun Feng, Xinyu Fu, Huanyun Li, Jingqi Zhu, Yanan Wang, Weiqin Tang, Chao Yuan, Feifei Li, Xiujuan Han, Di Wu, Xiangdong Kong, Luming Sun
Haplotype-based noninvasive prenatal diagnosis (NIPD) is applicable for various recessive single-gene disorders in proband families. However, a comprehensive exploration of critical factors influencing the assay performance, such as fetal fraction, informative single nucleotide polymorphism (SNP) count, and recombination events, has yet to be performed. It is critical to identify key factors affecting NIPD performance, including its accuracy and success rate, and their impact on clinical diagnostics to guide clinical practice...
October 11, 2023: Clinical Genetics
https://read.qxmd.com/read/37815337/synchronous-detection-of-burkholderia-pseudomallei-and-its-ceftazidime-resistance-mutation-based-on-rnase-hii-hydrolysis-combined-with-lateral-flow-strip-assay
#12
JOURNAL ARTICLE
Juan Yao, Zhang Zhang, Shen Tian, Nini Luo, Jun Tan, Yue Zhang, Shuo Gu, Qianfeng Xia
Melioidosis is a severe and often fatal infectious disease caused by Burkholderia pseudomallei , which poses significant challenges due to its high mortality rate and frequent misdiagnosis. To effectively treat infected patients, especially in epidemic regions like Hainan with a high resistance rate to ceftazidime (CAZ), early diagnosis and resistance testing are critical. Here, we designed a strategy that combines RNase-HII-dependent PCR with lateral flow strip assay (LFSA) for simultaneous detection of B...
October 10, 2023: Microbiology Spectrum
https://read.qxmd.com/read/37683443/the-significance-of-ifitm3-polymorphism-in-covid-19-asymptomatic-and-icu-admission-kurdish-patients
#13
JOURNAL ARTICLE
Peshnyar M A Rashid, Gaza F Salih
BACKGROUND: The Coronavirus Disease 2019 (COVID-19) is a global pandemic that exhibits a wide range of clinical symptoms, from asymptomatic to critically ill infections that require admission to an intensive care unit (ICU). Interferon-induced transmembrane protein 3 (IFITM3) prevents the viral envelope fusion with the cell membrane, hence playing a crucial role in the immune response. The association between single nucleotide polymorphisms (SNPs) in the IFITM3 gene and the severity of COVID-19 is controversial among various ethnic groups...
September 6, 2023: Cytokine
https://read.qxmd.com/read/37515526/crispr-cas12a-assisted-specific-detection-of-mpox-virus
#14
JOURNAL ARTICLE
Mandeep Singh, Chitra Seetharam Misra, Gargi Bindal, Shyam Sunder Rangu, Devashish Rath
Mpox virus, a member of genus Orthopoxvirus, causes rash and flu-like symptoms in humans. In the recent global outbreak, it was reported from several geographical areas that have not historically reported mpox. Point of care, sensitive and specific mpox diagnostic assays are critical in checking the spread of the disease. We have developed a clustered regularly interspaced short palindromic repeats associated Cas12a nuclease-based assay for detecting mpox virus. Mpox specific conserved sequences were identified in polA (E9L) gene which differ by a single nucleotide polymorphism (SNP) from all the viruses present in the genus Orthopoxvirus...
August 2023: Journal of Medical Virology
https://read.qxmd.com/read/37499392/evaluation-of-the-association-between-clinical-parameters-and-adam33-and-ormdl3-asthma-gene-single-nucleotide-polymorphisms-with-the-severity-of-covid-19
#15
JOURNAL ARTICLE
Mahsa Khoramipour, Amir Jalali, Bahareh Abbasi, Mohammad Hadi Abbasian
BACKGROUND: Coronavirus Disease of 2019 (COVID-19) is a contagious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Patients had varying clinical symptoms and disease severity (mild, moderate, severe, and critical). Several risk factors, including genetic polymorphisms, have been reported to be associated with disease risk and severity. This study aimed to investigate the association of two polymorphisms in the orosomucoid1-like 3 (ORMDL3) and a disintegrin and metalloprotease 33 (ADAM33) asthma-related genes with the severity of COVID-19...
July 25, 2023: International Immunopharmacology
https://read.qxmd.com/read/37350781/phenotypic-and-genetic-features-of-a-novel-clinically-isolated-rough-morphotype-candida-auris
#16
JOURNAL ARTICLE
Sufei Tian, Jian Bing, Yunzhuo Chu, Hailong Li, Qihui Wang, Shitong Cheng, Jingjing Chen, Hong Shang
INTRODUCTION: Candida auris is a newly emerging pathogenic fungus of global concern and has been defined by the World Health Organization (WHO) as a member of the critical group of the most health-threatening fungi. METHODS: This study reveals and reports for the first time that a rough morphotype C. auris strain causes urinary tract infections in non-intensive care unit (ICU) inpatients. Furthermore, the morphology, the scanning electronmicroscopy (SEM), Whole-genome resequencing and RNA sequencing of C...
2023: Frontiers in Microbiology
https://read.qxmd.com/read/36927455/polymorphism-in-interferon-alpha-beta-receptor-contributes-to-glucocorticoid-response-and-outcome-of-ards-and-covid-19
#17
RANDOMIZED CONTROLLED TRIAL
Juho Jalkanen, Sofia Khan, Kati Elima, Teppo Huttunen, Ning Wang, Maija Hollmén, Laura L Elo, Sirpa Jalkanen
BACKGROUND: The use of glucocorticoids has given contradictory results for treating acute respiratory distress syndrome (ARDS). The use of intravenous Interferon beta (IFN β) for the treatment of ARDS was recently tested in a phase III ARDS trial (INTEREST), in which more than half of the patients simultaneously received glucocorticoids. Trial results showed deleterious effects of glucocorticoids when administered together with IFN β, and therefore, we aimed at finding the reason behind this...
March 16, 2023: Critical Care: the Official Journal of the Critical Care Forum
https://read.qxmd.com/read/36921087/genetic-modifiers-of-cystic-fibrosis-lung-disease-severity-whole-genome-analysis-of-7-840-patients
#18
JOURNAL ARTICLE
Yi-Hui Zhou, Paul J Gallins, Rhonda G Pace, Hong Dang, Melis A Aksit, Elizabeth E Blue, Kati J Buckingham, Joseph M Collaco, Anna V Faino, William W Gordon, Kurt N Hetrick, Hua Ling, Weifang Liu, Frankline M Onchiri, Kymberleigh Pagel, Elizabeth W Pugh, Karen S Raraigh, Margaret Rosenfeld, Quan Sun, Jia Wen, Yun Li, Harriet Corvol, Lisa J Strug, Michael J Bamshad, Scott M Blackman, Garry R Cutting, Ronald L Gibson, Wanda K O'Neal, Fred A Wright, Michael R Knowles
RATIONALE: Lung disease is the major cause of morbidity and mortality in persons with cystic fibrosis (pwCF). Variability in CF lung disease has substantial non-CFTR genetic influence. Identification of genetic modifiers has prognostic and therapeutic importance. OBJECTIVES: Identify genetic modifier loci and genes/pathways associated with pulmonary disease severity. METHODS: Whole genome sequencing (WGS) data on 4,248 unique pwCF with pancreatic insufficiency (PI) and lung function measures were combined with imputed genotypes from an additional 3,592 PI patients from the US, Canada, and France...
March 15, 2023: American Journal of Respiratory and Critical Care Medicine
https://read.qxmd.com/read/36890161/a-significant-functional-and-replicable-risk-ktn1-variant-block-for-schizophrenia
#19
JOURNAL ARTICLE
Qiao Mao, Xiandong Lin, Qin Yin, Ping Liu, Yong Zhang, Shihao Qu, Jianying Xu, Wenhong Cheng, Xinqun Luo, Longli Kang, Reyisha Taximaimaiti, Chengchou Zheng, Huihao Zhang, Xiaoping Wang, Honggang Ren, Yuping Cao, Jie Lin, Xingguang Luo
Cortical and subcortical structural alteration has been extensively reported in schizophrenia, including the unusual expansion of gray matter volumes (GMVs) of basal ganglia (BG), especially putamen. Previous genome-wide association studies pinpointed kinectin 1 gene (KTN1) as the most significant gene regulating the GMV of putamen. In this study, the role of KTN1 variants in risk and pathogenesis of schizophrenia was explored. A dense set of SNPs (n = 849) covering entire KTN1 was analyzed in three independent European- or African-American samples (n = 6704) and one mixed European and Asian Psychiatric Genomics Consortium sample (n = 56,418 cases vs...
March 8, 2023: Scientific Reports
https://read.qxmd.com/read/36889308/variation-in-erap2-has-opposing-effects-on-severe-respiratory-infection-and-autoimmune-disease
#20
JOURNAL ARTICLE
Fergus Hamilton, Alexander J Mentzer, Tom Parks, J Kenneth Baillie, George Davey Smith, Peter Ghazal, Nicholas J Timpson
ERAP2 is an aminopeptidase involved in immunological antigen presentation. Genotype data in human samples from before and after the Black Death, an epidemic due to Yersinia pestis, have marked changes in allele frequency of the single-nucleotide polymorphism (SNP) rs2549794, with the T allele suggested to be deleterious during this period, while ERAP2 is also implicated in autoimmune diseases. This study explored the association between variation at ERAP2 and (1) infection, (2) autoimmune disease, and (3) parental longevity...
April 6, 2023: American Journal of Human Genetics
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