Article
Microbiology
Auttawit Sirichoat, Nipaporn Sankuntaw, Chulapan Engchanil, Pranom Buppasiri, Kiatichai Faksri, Wises Namwat, Wasun Chantratita, Viraphong Lulitanond
Summary: This study utilized next-generation sequencing (NGS) of the 16S rRNA gene to characterize vaginal microbiota, revealing Lactobacillus, Gardnerella, and Atopobium as the predominant bacterial genera. Different hypervariable regions showed varying levels of bacterial diversity, with selection of appropriate sequences being crucial for reliable information on bacterial community diversity.
ARCHIVES OF MICROBIOLOGY
(2021)
Article
Transplantation
M. Adela Mansilla, Ramakrishna R. Sompallae, Carla J. Nishimura, Anne E. Kwitek, Mycah J. Kimble, Margaret E. Freese, Colleen A. Campbell, Richard J. Smith, Christie P. Thomas
Summary: Genetic testing was found to be valuable in the evaluation of renal patients, with a high diagnostic rate in patients and the potential to change clinical diagnosis. The study highlights the importance of incorporating broad genetic testing in the management of kidney diseases.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2021)
Article
Pathology
Liqun Jiang, Aparna Pallavajjala, Jialing Huang, Lisa Haley, Laura Morsberger, Victoria Stinnett, Melanie Hardy, Rebecca Park, Candice Ament, Alexandra Finch, Alison Shane, Rebecca Parish, Azin Nozari, Patty Long, Emily Adams, Kirstin Smith, Vamsi Parimi, Sam Dougaparsad, Lori Long, Christopher D. Gocke, Ying S. Zou
Summary: This study demonstrated that targeted NGS can simultaneously detect MDS CNVs and somatic mutations, providing a more comprehensive genetic profiling for patients with myeloid malignancies.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2021)
Article
Ophthalmology
Parveen Sen, Natarajan Srikrupa, Puja Maitra, Sundaramurthy Srilekha, Periyasamy Porkodi, Harshavardhini Gnanasekaran, Muna Bhende, Vikas Khetan, Sinnakaruppan Mathavan, Pramod Bhende, Dhanashree Ratra, Rajiv Raman, Chetan Rao, Sarangapani Sripriya
Summary: This study utilized next-generation sequencing-based genetic testing to identify pathogenic mutations in 72 out of 107 RP patients. Phenotype analysis showed overlapping features with gene defects, which are important for accurate diagnosis and patient counseling.
INDIAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Reproductive Biology
Wei Luo, Hanni Ke, Shuyan Tang, Xue Jiao, Zhuqing Li, Shidou Zhao, Feng Zhang, Ting Guo, Yingying Qin
Summary: This study screened 500 Chinese Han patients with premature ovarian insufficiency using a next generation sequencing panel and identified 61 pathogenic or likely pathogenic variants. 58 of these variants were first identified in patients with POI. Further analysis revealed that specific variants in certain genes may result in isolated POI, while multiple gene defects could worsen the severity of POI.
JOURNAL OF OVARIAN RESEARCH
(2023)
Article
Microbiology
Michael T. Pyne, Keith E. Simmon, Melanie A. Mallory, Weston C. Hymas, Jeffery Stevenson, Adam P. Barker, David R. Hillyard
Summary: HIV-1 antiretroviral therapy management requires sequencing of different portions of the HIV-1 pol gene. Traditional Sanger sequencing has limited ability to detect minor variants. Next generation sequencing enables detection of variants at frequencies as low as 1%, allowing for earlier detection of resistance. However, implementation of NGS in the clinical laboratory is hindered by complicated design and analysis.
JOURNAL OF CLINICAL MICROBIOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Z. Lewis Liu, Xiaoqiu Huang
Summary: This study examines the copy number variants (CNVs) of industrial yeast strain NRRL Y-50049 and its progenitor NRRL Y-12632 to explore the relationship between CNV and yeast adaptation to toxic chemicals. The results suggest that CNV plays a more significant role than single nucleotide polymorphism (SNP) in the phenotype-genotype relationships of yeast adaptation.
APPLIED MICROBIOLOGY AND BIOTECHNOLOGY
(2022)
Article
Genetics & Heredity
Xiangyin Liu, Han Zhang, Xinyue Zhang, Hongguo Zhang, Yuting Jiang, Ruizhi Liu, Jia Fei, Ying Wang, Yang Yu
Summary: The NGS method was validated as an alternative to traditional STS-PCR method for detecting Y chromosome microdeletions in infertile men. It not only detects CNV like partial deletion or duplication, but also provides detailed information on the abnormal range and size of variations.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Yang Li, Yu Kong, Weixun Duan, Shiqiang Yu, Xinmin Zhou, Yerong Hu, Jing-Song Ou, Dinghua Yi, Jinsheng Xie, Junming Zhu, Lizhong Sun, Yulin Li, Jie Du
Summary: The study focused on sequencing known TAAD genes in isolated TAAD patients, revealing that 10.6% of patients carried pathogenic/likely pathogenic variants. Genetic patients showed younger age of onset, larger aortic diameter, and more complex disease manifestations. Genetic status and initial dissection were identified as major risk factors for poor prognosis. Early onset age was associated with adverse cardiovascular events in non-genetic cases without initial dissection.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Joyce Whittington, Anthony Holland
Summary: This article reviews the phenotype and genotype of Prader-Willi syndrome and proposes two possible paths from phenotype to genotype. It also suggests research that can strengthen the evidence for either of these hypotheses.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Aleksander Salomon-Perzynski, Joanna Barankiewicz, Marcin Machnicki, Irena Misiewicz-Krzeminska, Michal Pawlak, Sylwia Radomska, Agnieszka Krzywdzinska, Aleksandra Bluszcz, Piotr Stawinski, Malgorzata Rydzanicz, Natalia Jakacka, Iwona Solarska, Katarzyna Borg, Zofia Spyra-Gorny, Tomasz Szpila, Bartosz Pula, Sebastian Grosicki, Tomasz Stoklosa, Rafal Ploski, Ewa Lech-Maranda, Jana Jakubikova, Krzysztof Jamroziak
Summary: Tracking genetic changes during multiple myeloma progression reveals different patterns of mutation evolution, with mutation loss pathway associated with better treatment response. Many druggable genes are mutated, even in heavily pre-treated patients. Redefining R-ISS at relapse is clinically valuable.
Article
Immunology
Jiachun Su, Xu Han, Xiaogang Xu, Wenchao Ding, Ming Li, Weiqin Wang, Mi Tian, Xiyuan Chen, Binbin Xu, Zhongqing Chen, Jinyi Yuan, Xiaohua Qin, Dongfang Lin, Ruilan Wang, Ye Gong, Liping Pan, Jun Wang, Minggui Wang
Summary: The clinical value of using metagenomic next-generation sequencing (mNGS) to detect tumors in patients with suspected infections has been demonstrated.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2022)
Article
Biology
Maria Guarnaccia, Laura Guarnaccia, Valentina La Cognata, Stefania Elena Navone, Rolando Campanella, Antonella Ampollini, Marco Locatelli, Monica Miozzo, Giovanni Marfia, Sebastiano Cavallaro
Summary: The study developed a targeted next-generation sequencing approach for analyzing genetic variations and chromosomal aberrations in gliomas, which can provide accurate and specific assessment of tumor pathogenesis, prognosis, and treatment response. This has important implications for the diagnosis and treatment of gliomas.
Article
Endocrinology & Metabolism
Wei Zhou, Jeroen G. J. van Rooij, Denise M. van de Laarschot, Zografia Zervou, Hennie Bruggenwirth, Natasha M. Appelman-Dijkstra, Peter R. Ebeling, Serwet Demirdas, Annemieke J. M. H. Verkerk, M. Carola Zillikens
Summary: A study in the Netherlands found that atypical femur fractures (AFFs) can occur in patients with monogenic bone disorders, even without bisphosphonate use. The study revealed that approximately 25% of AFF patients had clinical features of monogenic bone disorders, including osteogenesis imperfecta and hypophosphatasia. These findings highlight the importance of careful clinical evaluation in AFF patients.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Oncology
Jasmine H. Francis, Allison L. Richards, Diana L. Mandelker, Michael F. Berger, Michael F. Walsh, Ira J. Dunkel, Mark T. A. Donoghue, David H. Abramson
Summary: By sequencing enucleated retinoblastoma specimens, this study found correlations between vitreous seeding and copy number variations, as well as between BCOR mutations and propensity for metastasis. Additionally, a portion of patients were found to have additional germline mutations in other cancer-related genes.
Article
Transplantation
Solene M. Laville, Aymeric Couturier, Oriane Lambert, Marie Metzger, Nicolas Mansencal, Christian Jacquelinet, Maurice Laville, Luc Frimat, Denis Fouque, Christian Combe, Bruce M. Robinson, Benedicte Stengel, Sophie Liabeuf, Ziad A. Massy
Summary: This study aimed to determine the association between serum urea levels and adverse cardiovascular events and death in patients with chronic kidney disease (CKD) before renal replacement therapy (RRT). The study found that elevated serum urea levels were associated with increased risk of atheromatous and non-atheromatous cardiovascular events, as well as higher mortality rates.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Editorial Material
Transplantation
Alberto Ortiz, Francesco Mattace-Raso, Maria Jose Soler, Denis Fouque
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Medical Laboratory Technology
Laurence Bessueille, Lynn Kawtharany, Thibaut Quillard, Claudia Goettsch, Anne Briolay, Nirina Taraconat, Stephane Balayssac, Veronique Gilard, Saida Mebarek, Olivier Peyruchaud, Francois Duboeuf, Caroline Bouillot, Anthony Pinkerton, Laura Mechtouff, Rene Buchet, Eva Hamade, Kazem Zibara, Caroline Fonta, Emmanuelle Canet-soulas, Jose luis Millan, David Magne
Summary: This study found that the activation of tissue-nonspecific alkaline phosphatase (TNAP) precedes and predicts calcification in atherosclerotic plaques, and TNAP inhibition prevents plaque calcification and protects arteries from atherosclerosis. The study also discovered that TNAP inhibition reduces blood levels of cholesterol and triglycerides, and ameliorates plaque calcification, thereby protecting arteries.
TRANSLATIONAL RESEARCH
(2023)
Article
Pediatrics
Noel Peretti, Alexandre Vimont, Emmanuel Mas, Jean Ferrieres, Patrick Tounian, Julie Lemale, Franck Boccara, Mathilde Di Filippo, Sybil Charriere, Philippe Moulin, Pierre Poinsot, Yves Cottin, Pierre-Henri Ducluzeau, Caroline Dourmap, Bertrand Cariou, Michel Farnier, Francois Paillard, Alain Pradignac, Cecile Yelnik, Antonio Gallo, Eric Bruckert, Sophie Beliard
Summary: Childhood and parental factors, including genetic diagnosis and parental vascular disease, are associated with the initiation of statin therapy in children with HeFH. Genetic diagnosis may be useful for cardiovascular prevention in children.
JOURNAL OF PEDIATRICS
(2023)
Letter
Anesthesiology
Jean-Luc Fellahi, Remi Schweizer, Martin Ruste, Matthias Jacquet-Lagreze
BRITISH JOURNAL OF ANAESTHESIA
(2023)
Article
Multidisciplinary Sciences
Martin Connock, Peter Auguste, Jean-Francois Obadia, Lazaros Andronis, Xavier Armoiry
Summary: When updated clinical trial data becomes available, reassessing the cost-effectiveness of technologies may modify estimates and influence decision-making. In this study, the impact of updated trial outcomes on the cost-effectiveness of percutaneous mitral repair (PR) for secondary mitral regurgitation was investigated. The updated trial data showed an increase in mortality in the intervention arm between two and three years follow-up, leading to a higher incremental cost-effectiveness ratio compared to previous estimates.
Article
Anesthesiology
Claire Louyot, Philippe Portran, Remi Schweizer, Jean -Charles Glerant, Sophie Thivolet, Oceane Brassart, Nathan Mewton, Matthias Jacquet-Lagreze, Jean-Luc Fellahi
Summary: The study aimed to create a French version of the DASI questionnaire and assess its diagnostic performance in predicting functional capacity. The results showed a significant positive relationship between FDASI and VO2max. A FDASI score of 36 can be used as a reliable threshold to identify patients with a VO2max < 14 ml.kg(-1).min(-1) and can replace the self-reported inability to climb two flights of stairs.
ANAESTHESIA CRITICAL CARE & PAIN MEDICINE
(2023)
Review
Genetics & Heredity
Charles R. Lefevre, Francois Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher, Paul Rollier, Jean-Baptiste Arnoux, Marine Tardieu, Lena Damaj, Claude Bendavid, Anne-Frederique Dessein, Cecile Acquaviva-Bourdain, David Cheillan
Summary: Primary Carnitine Deficiency (PCD) will be included in the expansion of the French newborn screening program in 2023. Screening for PCD is complex and has a wide clinical spectrum. Some countries struggle with high false positive rates and have even removed PCD from their screening programs. To understand the risks and benefits, we reviewed the literature and identified hurdles and current practices in PCD newborn screening worldwide. In addition, we address the optimized screening algorithm for the implementation of PCD screening in France.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2023)
Article
Critical Care Medicine
Louis-Marie Galerneau, Sebastien Bailly, Nicolas Terzi, Stephane Ruckly, Maite Garrouste-Orgeas, Yves Cohen, Vivien Hong Tuan Ha, Marc Gainnier, Shidasp Siami, Claire Dupuis, Michael Darmon, Jean-Marie Forel, Guillaume Rigault, Christophe Adrie, Dany Goldgran-Toledano, Virginie Laurent, Etienne de Montmollin, Laurent Argaud, Jean Reignier, Jean-Louis Pepin, Jean-Francois Timsit
Summary: The management of acute exacerbations of chronic obstructive pulmonary disease (AECOPD) has changed over the past 20 years, with a decrease in the use of corticosteroids and antibiotics, and an increase in the use of noninvasive ventilation (NIV). This has led to a decrease in ICU length of stay and mortality rates.
CRITICAL CARE MEDICINE
(2023)
Review
Peripheral Vascular Disease
Narasimha Anaganti, Atrayee Chattopadhyay, Mathilde Di Filippo, M. Mahmood Hussain
Summary: This review provides an overview of new developments in gene editing technology, particularly in using CRISPR/Cas9-mediated gene editing to study lipoprotein assembly and secretion.
CURRENT ATHEROSCLEROSIS REPORTS
(2023)
Article
Anesthesiology
Matthias Jacquet-Lagreze, Faustine Bredeche, Claire Louyot, Matteo Pozzi, Daniel Grinberg, Michele Flagiello, Philippe Portran, Martin Ruste, Remi Schweizer, Jean-Luc Fellahi
Summary: The study aimed to investigate the impact of central arterial pressure monitoring versus radial arterial pressure monitoring on norepinephrine requirements during cardiac surgery. Through an observational prospective cohort study, the authors found that central arterial pressure monitoring was associated with lower norepinephrine use, shorter ICU stay, and decreased adverse events.
JOURNAL OF CARDIOTHORACIC AND VASCULAR ANESTHESIA
(2023)
Article
Critical Care Medicine
Matthias Jacquet-Lagreze, Zakaria Riad, Philippe Portran, Delphine Chesnel, Remi Schweizer, Arnaud Ferarris, Louis Jacquemet, Martin Ruste, Jean-Luc Fellahi
Summary: This study investigated the hemodynamic effects of awake prone positioning in non-ventilated subjects with COVID-19 acute respiratory failure. The results showed a significant increase in cardiac index and improvement in right ventricular systolic function during prone positioning, with no significant difference in PaO2/FIO2 and breathing frequency.
Editorial Material
Cardiac & Cardiovascular Systems
Bertrand Scheppler, Salim A. Si-Mohamed, Simon Leboube, Fadi Farhat, Thomas Bochaton
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Article
Cardiac & Cardiovascular Systems
Diana Santos-Ribeiro, Marylene Lecocq, Michele de Beukelaer, Caroline Bouzin, Mihaly Palmai-Pallag, Yousef Yakoub, Francois Huaux, Sandrine Horman, Frederic Perros, Charles Pilette, Laurent Godinas
Summary: Pulmonary hypertension (PH) is a chronic disorder of the pulmonary circulation that often occurs with other respiratory diseases, and it may lead to right ventricular failure. This study validated an animal model of combined pulmonary fibrosis (PF) and PH, and examined its effects on lung and vascular remodeling as well as right ventricular structure and function. The results showed successful replication of the human disease features in this rat model.
PULMONARY CIRCULATION
(2023)
Article
Critical Care Medicine
Damien Contou, Gaetan Beduneau, Charlotte Rabault, Romain Sonneville, Antoine Marchalot, Remi Coudroy, Damien Roux, Martin Cour, Julien Massol, Sebastien Preau, Nicolas de Prost
Summary: This study aimed to assess the sensitivity of skin biopsy in adult patients with meningococcal purpura fulminans. The results showed that skin biopsy combined with conventional culture and meningococcal PCR had a global sensitivity of 88%, and should be considered even after the initiation of antimicrobial treatment.
