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JOURNAL ARTICLE
Kemelly Karolliny Moreira Resende, Margot Charlotte Riou, Paulo Marcio Yamaguti, Benjamin Fournier, Sophie Rondeau, Laurence Pacot, Ariane Berdal, Rufino Felizardo, Juliana Forte Mazzeu, Valérie Cormier-Daire, Céline Gaucher, Ana Carolina Acevedo, Muriel de La Dure-Molla
Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a syndrome. Recently, five biallelic disease-causing variants in the RELT gene were identified in 7 families with autosomal recessive amelogenesis imperfecta (ARAI). RELT encodes an orphan receptor in the tumor necrosis factor (TNFR) superfamily expressed during tooth development, with unknown function. Here, we report one Brazilian and two French families with ARAI and a distinctive hypomineralized phenotype with hypoplastic enamel, post-eruptive enamel loss, and occlusal attrition...
November 2023: European Journal of Human Genetics: EJHG
#22
JOURNAL ARTICLE
Yu Zhang, Yuan Fu, Wenfei Xian, Xiuli Li, Yong Feng, Fengjiao Bu, Yan Shi, Shiyu Chen, Robin van Velzen, Kai Battenberg, Alison M Berry, Marco G Salgado, Hui Liu, Tingshuang Yi, Pascale Fournier, Nicole Alloisio, Petar Pujic, Hasna Boubakri, M Eric Schranz, Pierre-Marc Delaux, Gane Ka-Shu Wong, Valerie Hocher, Sergio Svistoonoff, Hassen Gherbi, Ertao Wang, Wouter Kohlen, Luis G Wall, Martin Parniske, Katharina Pawlowski, Normand Philippe, Jeffrey J Doyle, Shifeng Cheng
Plant root nodule symbiosis (RNS) with mutualistic nitrogen-fixing bacteria is restricted to a single clade of angiosperms, the Nitrogen-Fixing Nodulation Clade (NFNC), and is best understood in the legume family. Nodulating species share many commonalities, explained either by divergence from a common ancestor over 100 million years ago or by convergence following independent origins over that same time period. Regardless, comparative analyses of diverse nodulation syndromes can provide insights into constraints on nodulation-what must be acquired or cannot be lost for a functional symbiosis-and what the latitude is for variation in the symbiosis...
August 8, 2023: Plant communications
#23
JOURNAL ARTICLE
Amy K Hahs, Bertrand Fournier, Myla F J Aronson, Charles H Nilon, Adriana Herrera-Montes, Allyson B Salisbury, Caragh G Threlfall, Christine C Rega-Brodsky, Christopher A Lepczyk, Frank A La Sorte, Ian MacGregor-Fors, J Scott MacIvor, Kirsten Jung, Max R Piana, Nicholas S G Williams, Sonja Knapp, Alan Vergnes, Aldemar A Acevedo, Alison M Gainsbury, Ana Rainho, Andrew J Hamer, Assaf Shwartz, Christian C Voigt, Daniel Lewanzik, David M Lowenstein, David O'Brien, Desiree Tommasi, Eduardo Pineda, Ela Sita Carpenter, Elena Belskaya, Gábor L Lövei, James C Makinson, Joanna L Coleman, Jon P Sadler, Jordan Shroyer, Julie Teresa Shapiro, Katherine C R Baldock, Kelly Ksiazek-Mikenas, Kevin C Matteson, Kyle Barrett, Lizette Siles, Luis F Aguirre, Luis Orlando Armesto, Marcin Zalewski, Maria Isabel Herrera-Montes, Martin K Obrist, Rebecca K Tonietto, Sara A Gagné, Sarah J Hinners, Tanya Latty, Thilina D Surasinghe, Thomas Sattler, Tibor Magura, Werner Ulrich, Zoltan Elek, Jennifer Castañeda-Oviedo, Ricardo Torrado, D Johan Kotze, Marco Moretti
Cities can host significant biological diversity. Yet, urbanisation leads to the loss of habitats, species, and functional groups. Understanding how multiple taxa respond to urbanisation globally is essential to promote and conserve biodiversity in cities. Using a dataset encompassing six terrestrial faunal taxa (amphibians, bats, bees, birds, carabid beetles and reptiles) across 379 cities on 6 continents, we show that urbanisation produces taxon-specific changes in trait composition, with traits related to reproductive strategy showing the strongest response...
August 7, 2023: Nature Communications
#24
JOURNAL ARTICLE
Maria Elena Maccari, Martin Wolkewitz, Charlotte Schwab, Tiziana Lorenzini, Jennifer W Leiding, Nathalie Aladjdi, Hassan Abolhassani, Wadih Abou-Chahla, Alessandro Aiuti, Saba Azarnoush, Safa Baris, Vincent Barlogis, Federica Barzaghi, Ulrich Baumann, Marketa Bloomfield, Nadezda Bohynikova, Damien Bodet, David Boutboul, Giorgia Bucciol, Matthew S Buckland, Siobhan O Burns, Caterina Cancrini, Pascal Cathébras, Marina Cavazzana, Morgane Cheminant, Matteo Chinello, Peter Ciznar, Tanya I Coulter, Maud D'Aveni, Olov Ekwall, Zelimir Eric, Efrem Eren, Anders Fasth, Pierre Frange, Benjamin Fournier, Marina Garcia-Prat, Martine Gardembas, Christoph Geier, Sujal Ghosh, Vera Goda, Lennart Hammarström, Fabian Hauck, Maximilian Heeg, Edyta Heropolitanska-Pliszka, Anna Hilfanova, Stephen Jolles, Elif Karakoc-Aydiner, Gerhard R Kindle, Ayca Kiykim, Christian Klemann, Patra Koletsi, Sylwia Koltan, Irina Kondratenko, Julia Körholz, Renate Krüger, Eric Jeziorski, Romain Levy, Guillaume Le Guenno, Guillaume Lefevre, Vassilios Lougaris, Antonio Marzollo, Nizar Mahlaoui, Marion Malphettes, Andrea Meinhardt, Etienne Merlin, Isabelle Meyts, Tomas Milota, Fernando Moreira, Despina Moshous, Anna Mukhina, Olaf Neth, Jennifer Neubert, Benedicte Neven, Alexandra Nieters, Raphaele Nove-Josserand, Eric Oksenhendler, Ahmet Ozen, Peter Olbrich, Antoinette Perlat, Malgorzata Pac, Jana Pachlopnik Schmid, Lucia Pacillo, Alba Parra-Martinez, Olga Paschenko, Isabelle Pellier, Asena Pinar Sefer, Alessandro Plebani, Dominique Plantaz, Seraina Prader, Loic Raffray, Henrike Ritterbusch, Jacques G Riviere, Beatrice Rivalta, Stephan Rusch, Inga Sakovich, Sinisa Savic, Raphael Scheible, Nicolas Schleinitz, Catharina Schuetz, Ansgar Schulz, Anna Sediva, Michaela Semeraro, Svetlana O Sharapova, Anna Shcherbina, Mary A Slatter, Georgios Sogkas, Pere Soler-Palacin, Carsten Speckmann, Jean-Louis Stephan, Felipe Suarez, Alberto Tommasini, Johannes Trück, Annette Uhlmann, Koen J van Aerde, Joris van Montfrans, Horst von Bernuth, Klaus Warnatz, Tony Williams, Austen J J Worth, Winnie Ip, Capucine Picard, Emilie Catherinot, Zohreh Nademi, Bodo Grimbacher, Lisa R Forbes Satter, Sven Kracker, Anita Chandra, Alison M Condliffe, Stephan Ehl
BACKGROUND: Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping with other conditions. Management depends on disease evolution, but predictors of severe disease are lacking. OBJECTIVES: This study sought to report the extended spectrum of disease manifestations in APDS1 versus APDS2; compare these to CTLA4 deficiency, NFKB1 deficiency, and STAT3 gain-of-function (GOF) disease; and identify predictors of severity in APDS...
June 28, 2023: Journal of Allergy and Clinical Immunology
#25
JOURNAL ARTICLE
Vanessa Nader, Anthony Matta, Ryeonshi Kang, Antoine Deney, Rania Azar, Charlotte Rouzaud-Laborde, Oxana Kunduzova, Romain Itier, Pauline Fournier, Michel Galinier, Didier Carrié, Jerome Roncalli
AIMS: Coronary artery disease (CAD) is a common cause of heart failure (HF). It remains unclear who, when and why to direct towards coronary revascularization. The outcomes of coronary revascularization in HF patients are still a matter of debate nowadays. This study aims to evaluate the effect of revascularization strategy on all-cause of death in the context of ischaemic HF. METHODS AND RESULTS: An observational cohort was conducted on 692 consecutive patients who underwent coronary angiography at the University Hospital of Toulouse between January 2018 and December 2021 for either a recent diagnosis of HF or a decompensated chronic HF, and in whom coronary angiograms showed at least 50% obstructive coronary lesion...
August 2023: ESC Heart Failure
#26
JOURNAL ARTICLE
Laura Alonso-Canal, Andrés Santos Rodríguez, Nuria Gil-Fournier-Esquerra, Pilar García-Centeno
We present the case of a patient suffering from a mixed-type functional dyspepsia who markedly reduced his diet to improve his symptoms leading him to malnourishment and a subsequent Wilkie's and Nutcracker's syndromes which exacerbated his pain. Our aim by presenting this case is to raise awareness as to what extent a so-called functional dyspepsia can evolve and of the possible overlap with these two entities in case of severe malnutrition.
2023: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
#27
JOURNAL ARTICLE
Ioannis Skalidis, Aurelia Zimmerli, David Meier, Stephane Fournier
Angor with non-obstructive coronary arteries or ischemia with non-obstructive coronary arteries (ANOCA/INOCA) is a condition where a patient experiences symptoms and/or signs of myocardial ischemia, without significant coronary artery stenoses. This syndrome is often caused by a direct imbalance between supply and demand, leading to inadequate myocardial perfusion due to microvascular limitations or coronary arteries' spasms. Although previously considered benign, there is increasing evidence that ANOCA/INOCA is associated with a poor quality of life, significant burden on the healthcare system, and major adverse cardiac events...
May 24, 2023: Revue Médicale Suisse
#28
JOURNAL ARTICLE
Ravi Jandhyala
BACKGROUND: There is a pressing need to improve the accuracy of rare disease clinical study endpoints. Neutral theory, first described here, can be used to assess the accuracy of endpoints and improve their selection in rare disease clinical studies, reducing the risk of patient misclassification. METHODS: Neutral theory was used to assess the accuracy of rare disease clinical study endpoints and the resulting probability of false positive and false negative classifications at different disease prevalence rates...
May 20, 2023: BMC Medical Research Methodology
#29
JOURNAL ARTICLE
Marie-Louise Frémond, Marie Hully, Benjamin Fournier, Rémi Barrois, Romain Lévy, Mélodie Aubart, Martin Castelle, Delphine Chabalier, Clarisse Gins, Eugénie Sarda, Buthaina Al Adba, Sophie Couderc, Céline D' Almeida, Claire-Marine Berat, Chloé Durrleman, Caroline Espil, Laetitia Lambert, Cécile Méni, Maximilien Périvier, Pascal Pillet, Laura Polivka, Manuel Schiff, Calina Todosi, Florence Uettwiller, Alice Lepelley, Gillian I Rice, Luis Seabra, Sylvia Sanquer, Anne Hulin, Claire Pressiat, Lauriane Goldwirt, Vincent Bondet, Darragh Duffy, Despina Moshous, Brigitte Bader-Meunier, Christine Bodemer, Florence Robin-Renaldo, Nathalie Boddaert, Stéphane Blanche, Isabelle Desguerre, Yanick J Crow, Bénédicte Neven
The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically characterized by severe neurological involvement. AGS is considered an immune-mediated disease, poorly responsive to conventional immunosuppression. Premised on a chronic enhancement of type I interferon signaling, JAK1/2 inhibition has been trialed in AGS, with clear improvements in cutaneous and systemic disease manifestations. Contrastingly, treatment efficacy at the level of the neurological system has been less conclusive...
May 12, 2023: Journal of Clinical Immunology
#30
JOURNAL ARTICLE
Alexandre O Gérard, Diane Merino, Alexis Charbinat, Joseph Fournier, Alexandre Destere, Michael Loschi, Thomas Cluzeau, Antoine Sicard, Milou-Daniel Drici
BACKGROUND: Chimeric antigen receptor T (CAR-T) cells have proven to be a game changer for treating several hematologic malignancies. Randomized controlled trials have highlighted potential life-threatening adverse drug reactions (ADRs), including cytokine release syndrome (CRS). Acute renal failure (ARF) has also been reported in 20% of the patients treated. However, an analysis of renal safety supported by large-scale real-life data seems warranted. PATIENTS AND METHODS: We queried VigiBase® for all reports of the Standardised MedDRA Query "acute renal failure" (ARF) involving a CAR-T cell, registered until 24 July 2022...
May 11, 2023: BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy
#31
REVIEW
Mikyla L Janzen, Brianna Davies, Zachary W M Laksman, Jason D Roberts, Shubhayan Sanatani, Christian Steinberg, Rafik Tadros, Julia Cadrin-Tourigny, Ciorsti MacIntyre, Joseph Atallah, Anne Fournier, Martin S Green, Robert Hamilton, Habib R Khan, Shane Kimber, Steven White, Jacqueline Joza, Bhavanesh Makanjee, Erkan Ilhan, David Lee, Simon Hansom, Alexios Hadjis, Laura Arbour, Richard Leather, Colette Seifer, Paul Angaran, Christopher S Simpson, Jeffrey S Healey, Martin Gardner, Mario Talajic, Andrew D Krahn
Inherited arrhythmia syndromes are rare genetic conditions that predispose seemingly healthy individuals to sudden cardiac arrest and death. The Hearts in Rhythm Organization is a multidisciplinary Canadian network of clinicians, researchers, patients, and families that aims to improve care for patients and families with inherited cardiac conditions, focused on those that confer predisposition to arrhythmia and sudden cardiac arrest and/or death. The field is rapidly evolving as research discoveries increase...
April 2023: CJC open
#32
JOURNAL ARTICLE
Paul Gabrion, Christophe Beyls, Nicolas Martin, Genevieve Jarry, Arthur Facq, Alexandre Fournier, Dorothée Malaquin, Yazine Mahjoub, Hervé Dupont, Momar Diouf, Helene Duquenne, Julien Maizel, Yohann Bohbot, Laurent Leborgne, Alexis Hermida
BACKGROUND: The first wave of the coronavirus disease 2019 pandemic significantly changed behaviour in terms of access to healthcare. AIM: To assess the effects of the pandemic and initial lockdown on the incidence of acute coronary syndrome and its long-term prognosis. METHODS: Patients admitted for acute coronary syndrome from 17 March to 6 July 2020 and from 17 March to 6 July 2019 were included. The number of admissions for acute coronary syndrome, acute complication rates and 2-year rates of survival free from major adverse cardiovascular events or death from any cause were compared according to the period of hospitalization...
March 24, 2023: Archives of Cardiovascular Diseases
#33
JOURNAL ARTICLE
Mădălin Guliciuc, Daniel Porav-Hodade, Bogdan-Calin Chibelean, Septimiu Toader Voidazan, Veronica Maria Ghirca, Adrian Cornel Maier, Monica Marinescu, Dorel Firescu
Background and Objectives : Patients with urinary tract obstruction (UTO) and systemic inflammatory response syndrome (SIRS) are at risk of developing urosepsis, whose evolution involves increased morbidity, mortality and cost. The aim of this study is to evaluate the ability of already existing scores and biomarkers to diagnose, describe the clinical status, and predict the evolution of patients with complicated urinary tract infection (UTI) and their risk of progressing to urosepsis. Materials and Methods : We conducted a retrospective study including patients diagnosed with UTI hospitalized in the urology department of" Sfântul Apostol Andrei" County Emergency Clinical Hospital (GCH) in Galati, Romania, from September 2019 to May 2022...
March 17, 2023: Medicina
#34
JOURNAL ARTICLE
Nasserdine Papa Mze, Idir Kacel, Mamadou Beye, Raphael Tola, Mariéma Sarr, Leonardo Basco, Hervé Bogreau, Philippe Colson, Pierre-Edouard Fournier
The emergence of the Coronavirus Disease 2019 (COVID-19) pandemic has fostered the use of high-throughput techniques to sequence the entire severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) genome and track its evolution. The present study proposes a rapid and relatively less expensive sequencing protocol for 384 samples by adapting the use of an Illumina NovaSeq library to an Illumina MiSeq flow cell instrument. The SARS-CoV-2 genome sequences obtained with Illumina NovaSeq and those obtained using MiSeq instruments were compared with the objective to validate the new, modified protocol...
March 9, 2023: Genes
#35
Alejandro Pajares, José Antonio Arias-Delgado, Fernando Jeancarlos Imán-Izquierdo, Wilmer Silva-Caso
Hyperimmunoglobulin E syndrome or Job syndrome is defined as an immune and connective tissue disorder that results in complications such as invasive infections. On the other hand, Fournier gangrene is a rapidly progressive necrotizing fasciitis that affects the perineal area, has a polymicrobial etiology, and its treatment consists of rapid and aggressive surgical debridement, antibiotic therapy, and hemodynamic support. We present the case of Fournier gangrene in an 11-year-old boy with a diagnosis of hyperimmunoglobulinemia E...
March 2023: Urology Case Reports
#36
JOURNAL ARTICLE
Thabo Mahendiran, André Hoepli, Fabienne Foster-Witassek, Hans Rickli, Marco Roffi, Franz Eberli, Giovanni Pedrazzini, Raban Jeger, Dragana Radovanovic, Stephane Fournier
AIM: Modifiable cardiovascular risk factors (RFs) play a key role in the development of coronary artery disease. We evaluated 20-year trends in RF prevalence among young adults hospitalised with acute coronary syndromes (ACS) in Switzerland. METHODS AND RESULTS: Data were analysed from the Acute Myocardial Infarction in Switzerland (AMIS) Plus registry from 2000 to 2019. Young patients were defined as those aged <50 years. Among 58'028 ACS admissions, 7'073 (14...
March 17, 2023: European Journal of Preventive Cardiology
#37
JOURNAL ARTICLE
Camille Gosseaume, Thierry Fournier, Isabelle Jéru, Marie-Léone Vignaud, Isabelle Missotte, Françoise Archambeaud, Xavier Debussche, Céline Droumaguet, Bruno Fève, Sophie Grillot, Bruno Guerci, Sylvie Hieronimus, Yves Horsmans, Estelle Nobecourt, Catherine Pienkowski, Christine Poitou, Jean-Paul Thissen, Olivier Lascols, Séverine Degrelle, Vassilis Tsatsaris, Corinne Vigouroux, Camille Vatier
OBJECTIVE: The adipogenic PPARG-encoded PPARγ nuclear receptor also display essential placental functions. We evaluated metabolic, reproductive and perinatal features of patients with PPARG-related lipodystrophy. METHODS: Current and retrospective data were collected in patients referred to a National Rare Diseases Reference Centre. RESULTS: 26 patients from 15 unrelated families were studied (18 women, median age 43 years). They carried monoallelic PPARG variants except a homozygous patient with congenital generalized lipodystrophy...
February 21, 2023: European Journal of Endocrinology
#38
JOURNAL ARTICLE
Marco Dürig, Diego Arroyo, Marc Bedossa, Philippe Commeau, Stephane Fournier, Olivier Müller, Paul Barragan, Hervé Le Breton, Serban Puricel, Stéphane Cook
AIMS: Unprotected left main coronary artery (ULMCA) occlusion is a rare and disastrous condition with scarce data on presentation and outcomes. Herein, we report data on patients presenting with acute coronary syndrome due to ULMCA occlusion at four different institutions. METHODS: This is an international multicentre observational study. Baseline characteristics were retro- and prospectively collected. Clinical follow-up was prospective. The primary outcome was in-hospital death...
February 14, 2023: Catheterization and Cardiovascular Interventions
#39
JOURNAL ARTICLE
Lucia Maria Caiano, Taylor Drury, Amin Zahrai, Tzu-Fei Wang, Deborah M Siegal, Marc A Rodger, Karine Fournier, Aurélien Delluc
BACKGROUND: Post-thrombotic syndrome (PTS) is the most frequent long-term complication of deep vein thrombosis. Apart from anticoagulation, there are no medications, procedures, devices, or lifestyle changes that effectively prevent PTS. There is a growing interest in the potential protective effects of statins for the prevention of PTS. OBJECTIVE: To conduct a systematic review and meta-analysis on the role of statins to prevent PTS after a DVT event. METHODS: We searched the MEDLINE(R) ALL, Embase, Cochrane Central Register of Controlled Trials, and Scopus from inception to April 5, 2022...
April 2023: Journal of Thrombosis and Haemostasis: JTH
#40
JOURNAL ARTICLE
Ioannis Skalidis, David Meier, Bernard De Bruyne, Carlos Collet, Jeroen Sonck, Thabo Mahendiran, David Rotzinger, Salah Dine Qanadli, Eric Eeckhout, Olivier Muller, Stephane Fournier
UNLABELLED: Noninvasive methods of estimating invasively measured fractional flow reserve (FFRinvasive ) are actively being explored, aiming to avoid the use of an invasive pressure wire and the administration of hyperemia-inducing drugs. Coronary angiography-derived FFR (FFRangio ) has already demonstrated its diagnostic performance in the context of stable coronary artery disease. However, its applicability in the context of non-ST-segment elevation myocardial infarction (NSTEMI) has yet to be established...
December 28, 2022: Catheterization and Cardiovascular Interventions
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