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JOURNAL ARTICLE
Zihui Wang, Shaoqiang Li, Guannan Cai, Yuan Gao, Huajing Yang, Yun Li, Juncheng Liang, Shiyu Zhang, Jieying Hu, Jinping Zheng
BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a prevalent condition that significantly impacts public health. Unfortunately, there are few effective treatment options available. Mendelian randomization (MR) has been utilized to repurpose existing drugs and identify new therapeutic targets. The objective of this study is to identify novel therapeutic targets for COPD. METHODS: Cis-expression quantitative trait loci (cis-eQTL) were extracted for 4,317 identified druggable genes from genomics and proteomics data of whole blood (eQTLGen) and lung tissue (GTEx Consortium)...
2024: Frontiers in Cellular and Infection Microbiology
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JOURNAL ARTICLE
Kavita De, Juan M Belardinelli, Arun Prasad Pandurangan, Teddy Ehianeta, Elena Lian, Zuzana Palčeková, Ha Lam, Mercedes Gonzalez-Juarrero, Josephine M Bryant, Tom L Blundell, Julian Parkhill, R Andres Floto, Todd L Lowary, William H Wheat, Mary Jackson
Mycobacterium abscessus is increasingly recognized as the causative agent of chronic pulmonary infections in humans. One of the genes found to be under strong evolutionary pressure during adaptation of M. abscessus to the human lung is embC which encodes an arabinosyltransferase required for the biosynthesis of the cell envelope lipoglycan, lipoarabinomannan (LAM). To assess the impact of patient-derived embC mutations on the physiology and virulence of M. abscessus , mutations were introduced in the isogenic background of M...
April 23, 2024: Proceedings of the National Academy of Sciences of the United States of America
#3
JOURNAL ARTICLE
Adil Essahale, Fouad Nia, Anis Sfendla, Mohieddine Moumni
Tuberculosis (TB) is one of the contagious diseases caused by M. tuberculosis (MTB) bacteria. Prompt diagnosis is one of the active solutions to control the spread of this infection. Besides, a targeted, specific and non-complex diagnosis can prove promising in this type of epidemic. This study was designed to compare the efficiencies of a diagnosis by Ziehl-Neelsen staining (ZN) and by the polymerase chain reaction (PCR) technique. Samples presented smear-positive pulmonary TB were subjected to Chromosomal restriction fragment length polymorphism of IS6110 (IS6110-RFLP) for fingerprinting profile determination...
April 2024: Indian Journal of Tuberculosis
#4
JOURNAL ARTICLE
Rudra Kumar Pandey, Anshika Srivastava, Rahul Kumar Mishra, Prajjval Pratap Singh, Gyaneshwer Chaubey
SARS CoV-2, the causative agent for the ongoing COVID-19 pandemic, it enters the host cell by activating the ACE2 receptor with the help of two proteasesi.e., Furin and TMPRSS2. Therefore, variations in these genes may account for differential susceptibility and severity between populations. Previous studies have shown that the role of ACE2 and TMPRSS2 gene variants in understanding COVID-19 susceptibility among Indian populations. Nevertheless, a knowledge gap exists concerning the COVID-19 susceptibility of Furin gene variants among diverse South Asian ethnic groups...
April 3, 2024: Scientific Reports
#5
Benjamin E Zuchelkowski, Hernán F Peñaloza, Zeyu Xiong, Ling Wang, Eugenia Cifuentes-Pagano, Elizabeth Rochon, Minying Yang, Sebastien Gingras, Mark T Gladwin, Janet S Lee
The X-linked A - variant (rs1050828, Val68Met) in G6PDX accounts for glucose-6-phosphate (G6PD) deficiency in approximately 11% of African American males. This common, hypomorphic variant may impact pulmonary host defense and phagocyte function during pneumonia by altering levels of reactive oxygen species produced by host leukocytes. We used CRISPR-Cas9 technology to generate novel mouse strain with "humanized" G6PD A- variant containing non-synonymous Val68Met single nucleotide polymorphism. Male hemizygous or littermate wild-type (WT) controls were inoculated intratracheally with K...
March 11, 2024: Research Square
#6
JOURNAL ARTICLE
Nils Wetzstein, Margo Diricks, Sönke Andres, Martin Kuhns, Lisa Marschall, Teodora Biciusca, Christina Smaczny, Inna Friesen, Stefan Niemann, Thomas A Wichelhaus
INTRODUCTION: Mycobacterium simiae is a slow-growing non-tuberculous mycobacterium that can cause non-tuberculous mycobacterium (NTM) pulmonary disease and extrapulmonary infections. Until now, detailed genomic and clinical characteristics, as well as possible transmission routes of this rare pathogen remain largely unknown. METHODS: We conducted whole genome sequencing of available M. simiae isolates collected at a tertiary care centre in Central Germany from 2006 to 2020 and set them into context with publicly available M...
March 2024: ERJ Open Research
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JOURNAL ARTICLE
Beatriz Guillen-Guio, Megan L Paynton, Richard J Allen, Daniel P W Chin, Lauren J Donoghue, Amy Stockwell, Olivia C Leavy, Tamara Hernandez-Beeftink, Carl Reynolds, Paul Cullinan, Fernando Martinez, Helen L Booth, William A Fahy, Ian P Hall, Simon P Hart, Mike R Hill, Nik Hirani, Richard B Hubbard, Robin J McAnulty, Ann B Millar, Vidya Navaratnam, Eunice Oballa, Helen Parfrey, Gauri Saini, Ian Sayers, Martin D Tobin, Moira K B Whyte, Ayodeji Adegunsoye, Naftali Kaminski, Shwu-Fan Ma, Mary E Strek, Yingze Zhang, Tasha E Fingerlin, Maria Molina-Molina, Margaret Neighbors, X Rebecca Sheng, Justin M Oldham, Toby M Maher, Philip L Molyneaux, Carlos Flores, Imre Noth, David A Schwartz, Brian L Yaspan, R Gisli Jenkins, Louise V Wain, Edward J Hollox
INTRODUCTION: Idiopathic pulmonary fibrosis (IPF) is a chronic interstitial pneumonia marked by progressive lung fibrosis and a poor prognosis. Recent studies have highlighted the potential role of infection in the pathogenesis of IPF, and a prior association of the HLA-DQB1 gene with idiopathic fibrotic interstitial pneumonia (including IPF) has been reported. Owing to the important role that the human leukocyte antigen (HLA) region plays in the immune response, here we evaluated if HLA genetic variation was associated specifically with IPF risk...
January 2024: ERJ Open Research
#8
JOURNAL ARTICLE
Guoqin Zhang, Xianhui Sun, Joy Fleming, Fanlei Ran, Jianjun Luo, Hong Chen, Hanfang Ju, Zhirui Wang, Hui Zhao, Chunhua Wang, Fan Zhang, Xiaowei Dai, Xinyu Yang, Chuanyou Li, Yi Liu, Yaguo Wang, Xilin Zhang, Yuan Jiang, Zhilong Wu, Lijun Bi, Hongtai Zhang
OBJECTIVES: We elucidated the factors, evolution, and compensation of antimicrobial resistance (AMR) in Mycobacterium tuberculosis (MTB) isolates under dual pressure from the intra-host environment and anti-tuberculosis (anti-TB) drugs. METHODS: This retrospective case-control study included 337 patients with pulmonary tuberculosis from 15 clinics in Tianjin, China, with phenotypic drug susceptibility testing (DST) results available for at least two time points between January 1, 2009 and December 31, 2016...
January 27, 2024: Clinical Microbiology and Infection
#9
JOURNAL ARTICLE
Li-Na Chen, Zhang-Xuan Shou, Xue Jin
Numerous studies have highlighted the emergence of coronavirus disease (COVID-19) symptoms reminiscent of Kawasaki disease in children, including fever, heightened multisystem inflammation, and multiorgan involvement, posing a life-threatening complication. Consequently, extensive research endeavors in pediatric have aimed to elucidate the intricate relationship between COVID-19 infection and the immune system. COVID-19 profoundly impacts immune cells, culminating in a cytokine storm that particularly inflicts damage on the pulmonary system...
January 25, 2024: Viral Immunology
#10
JOURNAL ARTICLE
Wenya Hua, Kunyang Wu, Yelei Zhu, Zhengwei Liu, Yu Zhang, Jiazhen Chen
INTRODUCTION: Mycobacterium abscessus is an opportunistic nontuberculous mycobacteria pathogen; however, the prevalence of nosocomial and community infections is increasing. In January 2016, several bedridden inpatients in the intensive care unit of a hospital had positive sputum smears for acid-fast bacilli, suggesting a mycobacteria outbreak. METHODOLOGY: Acid-fast bacilli smear microscopy, isolation, and culturing were performed twice using sputa from each suspected intensive care unit inpatient (n = 13); in addition, medical history was obtained for each inpatient with suspected infection...
December 31, 2023: Journal of Infection in Developing Countries
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JOURNAL ARTICLE
Christian M Zobel, Hartmut Kuhn, Maximilian Schreiner, Werner Wenzel, Jasper Wendtland, Cengiz Goekeri, Lorenz Scheit, Klaas Oltmanns, Dominic Rauschning, Marica Grossegesse, Natalie Hofmann, Hubert Wirtz, Sebastian Spethmann
BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic is driven by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, which has led to an enormous burden on patient morbidity and mortality. The renin-angiotensin-aldosterone system (RAAS) plays a significant role in various pulmonary diseases. Since SARS-CoV-2 utilizes the angiotensin-converting enzyme (ACE)2 receptor to exert its virulence and pathogenicity, the RAAS is of particular importance in COVID 19...
January 10, 2024: Virology Journal
#12
D M Gatti, A L Tyler, J M Mahoney, G A Churchill, B Yener, D Koyuncu, M N Gurcan, Mkk Niazi, T Tavolara, A C Gower, D Dayao, E McGlone, M L Ginese, A Specht, A Alsharaydeh, P A Tessier, S L Kurtz, K Elkins, I Kramnik, G Beamer
Mycobacterium tuberculosis, the bacillus that causes tuberculosis (TB), infects 2 billion people across the globe, and results in 8-9 million new TB cases and 1-1.5 million deaths each year. Most patients have no known genetic basis that predisposes them to disease. We investigated the complex genetic basis of pulmonary TB by modelling human genetic diversity with the Diversity Outbred mouse population. When infected with M. tuberculosis , one-third develop early onset, rapidly progressive, necrotizing granulomas and succumb within 60 days...
December 22, 2023: bioRxiv
#13
Nevena Georgieva Ivanova
The coronavirus disease (COVID-19) is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The most common symptoms of COVID-19 are respiratory symptoms, but some patients develop severe thrombotic complications. Studies have looked into the association between the disease severity in COVID-19 patients and polymorphisms in the genes encoding prothrombotic and cardiovascular risk factors. The presented rare case describes inflammatory and acute thrombotic complications with musculoskeletal involvement in a patient with combined coagulation genetic defects...
November 22, 2023: Life
#14
JOURNAL ARTICLE
Juan C Ocampo, Juan F Alzate, Luis F Barrera, Andres Baena
Currently, tuberculosis (TB) is a bacterial infection caused by Mycobacterium tuberculosis (Mtb) that primarily affects the lungs. The severity of active pulmonary TB (APTB) is an important determinant of transmission, morbidity, mortality, disease experience, and treatment outcomes. Several publications have shown a high prevalence of disabling complications in individuals who have had severe APTB. Furthermore, certain strains of Mtb were associated with more severe disease outcomes. The use of biomarkers to predict severe APTB patients who are candidates for host-directed therapies, due to the high risk of developing post-tuberculous lung disease (PTLD), has not yet been implemented in the management of TB patients...
November 22, 2023: Biomedicines
#15
JOURNAL ARTICLE
Kerolos Fares, Mona K El-Deeb, Omar Elsammak, Amged Ouf, Hesham Mahmoud Sayd Saeed, Ayman Baess, Mohamed Elsammak, Eman El-Attar
INTRODUCTION: COVID-19 causes severe inflammatory respiratory distress syndrome. The global pandemic caused millions of cases of morbidity and mortality worldwide. Patients may present with variable symptoms including dyspnea, fever, and GIT manifestations. The HMOX-1 gene is located on the long (q) arm of chromosome 22 at position 12.3. HMOX-1 is expressed in all mammalian tissues at basal levels and is considered as a stress response enzyme. HMOX-1 has a specific polymorphic site with variable GT(n) repeats at the promotor region...
December 21, 2023: BMC Pulmonary Medicine
#16
JOURNAL ARTICLE
Yanjun Liu, Zijuan Jian, Zhiqian Wang, Awen Yang, Peilin Liu, Bin Tang, Jiahui Wang, Qun Yan, Wenen Liu
PURPOSE: In clinical settings, CG23 Klebsiella pneumoniae ( Kp ) is the most virulent clonal group of Kp . Continuous fusions of hypervirulent (Hv) and highly resistant strains have been reported; however, few studies have analysed the molecular epidemiology and clinical characteristics of CG23 strains, especially MDR-sequence type ST23 strains. In this study, we investigated the molecular characteristics of ST23 Kp and analysed the clinical characteristics of ST23 Kp infections in a large teaching hospital of the third class in China...
2023: Infection and Drug Resistance
#17
JOURNAL ARTICLE
Taravat Talebi, Tannaz Masoumi, Katayoun Heshmatzad, Mahshid Hesami, Majid Maleki, Samira Kalayinia
BACKGROUND: Health and economies are both affected by the coronavirus disease-19 (COVID-19) global pandemic. Angiotensin-converting enzyme 2 ( ACE2 ) is a polymorphic enzyme that is a part of the renin-angiotensin system, and it plays a crucial role in viral entry. Previous investigations and studies revealed that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and ACE2 have a considerable association. Recently, ACE2 variants have been described in human populations in association with cardiovascular and pulmonary conditions...
2023: Genetics Research
#18
JOURNAL ARTICLE
Mostafa Khafaei, Reza Asghari, Fariba Zafari, Morteza Sadeghi
BACKGROUND: From asymptomatic to acute and life-threatening pulmonary infection, the clinical manifestations of COVID-19 are highly variable. Interleukin (IL)-6 and IL-17A are key drivers of hyper inflammation status in COVID-19, and their elevated levels are hallmarks of the infection progression. To explore whether prognosis and susceptibility to COVID-19 are linked to IL-6 rs1800795 and IL-17A rs2275913, these single-nucleotide polymorphisms (SNPs) were assessed in a sample of Iranian COVID-19 patients...
December 5, 2023: Cytokine
#19
JOURNAL ARTICLE
Woo Jung Seo, Hyeon-Kyoung Koo, Ji Yeon Kang, Jieun Kang, So Hee Park, Hyung Koo Kang, Hye Kyeong Park, Sung-Soon Lee, Sangbong Choi, Tae Won Jang, Kyeong-Cheol Shin, Jee Youn Oh, Joon Young Choi, Jinsoo Min, Young-Kyung Choi, Jae-Gook Shin, Yong-Soon Cho
BACKGROUND: The Center for Personalized Precision Medicine of Tuberculosis (cPMTb) was constructed to develop personalized pharmacotherapeutic systems for tuberculosis (TB). This study aimed to introduce the cPMTb cohort and compare the distinct characteristics of patients with TB, non-tuberculosis mycobacterium (NTM) infection, or latent TB infection (LTBI). We also determined the prevalence and specific traits of polymorphisms in N-acetyltransferase-2 (NAT2) and solute carrier organic anion transporter family member 1B1 (SLCO1B1) phenotypes using this prospective multinational cohort...
November 24, 2023: BMC Pulmonary Medicine
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JOURNAL ARTICLE
Benjamin C Simmons, Johanna Rhodes, Thomas R Rogers, Paul E Verweij, Alireza Abdolrasouli, Silke Schelenz, Samuel J Hemmings, Alida Fe Talento, Auveen Griffin, Mary Mansfield, David Sheehan, Thijs Bosch, Matthew C Fisher
Aspergillus fumigatus has been found to coinfect patients with severe SARS-CoV-2 virus infection, leading to COVID-19-associated pulmonary aspergillosis (CAPA). The CAPA all-cause mortality rate is approximately 50% and may be complicated by azole resistance. Genomic epidemiology can help shed light on the genetics of A. fumigatus causing CAPA, including the prevalence of resistance-associated alleles. We present a population genomic analysis of 21 CAPA isolates from four European countries with these isolates compared against 240 non-CAPA A...
November 13, 2023: Journal of Fungi (Basel, Switzerland)
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