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JOURNAL ARTICLE
Bertrand Moal, Arthur Orieux, Thomas Ferté, Antoine Neuraz, Gabriel A Brat, Paul Avillach, Clara-Lea Bonzel, Tianxi Cai, Kelly Cho, Sébastien Cossin, Romain Griffier, David A Hanauer, Christian Haverkamp, Yuk-Lam Ho, Chuan Hong, Meghan R Hutch, Jeffrey G Klann, Trang T Le, Ne Hooi Will Loh, Yuan Luo, Adeline Makoudjou, Michele Morris, Danielle L Mowery, Karen L Olson, Lav P Patel, Malarkodi J Samayamuthu, Fernando J Sanz Vidorreta, Emily R Schriver, Petra Schubert, Guillaume Verdy, Shyam Visweswaran, Xuan Wang, Griffin M Weber, Zongqi Xia, William Yuan, Harrison G Zhang, Daniela Zöller, Isaac S Kohane, Alexandre Boyer, Vianney Jouhet
PURPOSE: In young adults (18 to 49 years old), investigation of the acute respiratory distress syndrome (ARDS) after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been limited. We evaluated the risk factors and outcomes of ARDS following infection with SARS-CoV-2 in a young adult population. METHODS: A retrospective cohort study was conducted between January 1st, 2020 and February 28th, 2021 using patient-level electronic health records (EHR), across 241 United States hospitals and 43 European hospitals participating in the Consortium for Clinical Characterization of COVID-19 by EHR (4CE)...
2023: PloS One
#22
JOURNAL ARTICLE
Claudia M Denkinger, Maike Janssen, Ulrike Schäkel, Julia Gall, Albrecht Leo, Patrick Stelmach, Stefan F Weber, Johannes Krisam, Lukas Baumann, Jacek Stermann, Uta Merle, Markus A Weigand, Christian Nusshag, Lars Bullinger, Jens-Florian Schrezenmeier, Martin Bornhäuser, Nael Alakel, Oliver Witzke, Timo Wolf, Maria J G T Vehreschild, Stefan Schmiedel, Marylyn M Addo, Felix Herth, Michael Kreuter, Phil-Robin Tepasse, Bernd Hertenstein, Mathias Hänel, Anke Morgner, Michael Kiehl, Olaf Hopfer, Mohammad-Amen Wattad, Carl C Schimanski, Cihan Celik, Thorsten Pohle, Matthias Ruhe, Winfried V Kern, Anita Schmitt, Hanns-Martin Lorenz, Margarida Souto-Carneiro, Mary Gaeddert, Niels Halama, Stefan Meuer, Hans-Georg Kräusslich, Barbara Müller, Paul Schnitzler, Sylvia Parthé, Ralf Bartenschlager, Martina Gronkowski, Jennifer Klemmer, Michael Schmitt, Peter Dreger, Katharina Kriegsmann, Richard F Schlenk, Carsten Müller-Tidow
Patients with cancer are at high risk of severe coronavirus disease 2019 (COVID-19), with high morbidity and mortality. Furthermore, impaired humoral response renders severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccines less effective and treatment options are scarce. Randomized trials using convalescent plasma are missing for high-risk patients. Here, we performed a randomized, open-label, multicenter trial ( https://www.clinicaltrialsregister.eu/ctr-search/trial/2020-001632-10/DE ) in hospitalized patients with severe COVID-19 (n = 134) within four risk groups ((1) cancer (n = 56); (2) immunosuppression (n = 16); (3) laboratory-based risk factors (n = 36); and (4) advanced age (n = 26)) randomized to standard of care (control arm) or standard of care plus convalescent/vaccinated anti-SARS-CoV-2 plasma (plasma arm)...
December 29, 2022: Nature Cancer
#23
JOURNAL ARTICLE
Jonathan Rochus Reinwald, Wolfgang Weber-Fahr, Alejandro Cosa-Linan, Robert Becker, Markus Sack, Claudia Falfan-Melgoza, Natalia Gass, Urs Braun, Christian Clemm von Hohenberg, Jiesi Chen, Steffen Mayerl, Thomas F Muente, Heike Heuer, Alexander Sartorius
Dysfunctions of the thyroid hormone (TH) transporting monocarboxylate transporter MCT8 lead to a complex X-linked syndrome with abnormal serum TH concentrations and prominent neuropsychiatric symptoms (Allan-Herndon-Dudley syndrome, AHDS). The key features of AHDS are replicated in double knockout mice lacking MCT8 and organic anion transporting protein OATP1C1 ( Mct8/Oatp1c1 DKO). In this study, we characterize impairments of brain structure and function in Mct8/Oatp1c1 DKO mice using multimodal magnetic resonance imaging (MRI) and assess the potential of the TH analogue 3,3',5-triiodothyroacetic acid (TRIAC) to rescue this phenotype...
December 8, 2022: International Journal of Molecular Sciences
#24
JOURNAL ARTICLE
Anne Christians, Esra Kesdiren, Imke Hennies, Alejandro Hofmann, Mark-Oliver Trowe, Frank Brand, Helge Martens, Ann Christin Gjerstad, Zoran Gucev, Matthias Zirngibl, Robert Geffers, Tomáš Seeman, Heiko Billing, Anna Bjerre, Velibor Tasic, Andreas Kispert, Benno Ure, Dieter Haffner, Jens Dingemann, Ruthild G Weber
Most patients with congenital anomalies of the kidney and urinary tract (CAKUT) remain genetically unexplained. In search of novel genes associated with CAKUT in humans, we applied whole-exome sequencing in a patient with kidney, anorectal, spinal, and brain anomalies, and identified a rare heterozygous missense variant in the DACT1 (dishevelled binding antagonist of beta catenin 1) gene encoding a cytoplasmic WNT signaling mediator. Our patient's features overlapped Townes-Brocks syndrome 2 (TBS2) previously described in a family carrying a DACT1 nonsense variant as well as those of Dact1-deficient mice...
September 6, 2022: Human Genetics
#25
RANDOMIZED CONTROLLED TRIAL
Takashi Yamamura, Brian Weinshenker, Michael R Yeaman, Jerome De Seze, Francesco Patti, Patricia Lobo, H-Christian von Büdingen, Xiujing Kou, Kristina Weber, Benjamin Greenberg
BACKGROUND: This analysis evaluated long-term safety findings from the SAkuraSky and SAkuraStar studies with satralizumab in patients with neuromyelitis optica spectrum disorder (NMOSD). METHODS: SAkuraSky (satralizumab in combination with baseline immunosuppressive therapy; IST) and SAkuraStar (satralizumab monotherapy) are international, multicenter, randomized, placebo-controlled, phase 3 studies consisting of a double-blind (DB) period followed by an open-label extension (OLE)...
October 2022: Multiple Sclerosis and related Disorders
#26
REVIEW
Paul C Evans, Sean M Davidson, Johann Wojta, Magnus Bäck, Sveva Bollini, Mairi Brittan, Alberico L Catapano, Bill Chaudhry, Matthijs Cluitmans, Massimiliano Gnecchi, Tomasz J Guzik, Imo Hoefer, Rosalinda Madonna, João P Monteiro, Henning Morawietz, Elena Osto, Teresa Padró, Judith C Sluimer, Carlo Gabriele Tocchetti, Kim Van der Heiden, Gemma Vilahur, Johannes Waltenberger, Christian Weber
Here, we review the highlights of cardiovascular basic science published in 2021 and early 2022 on behalf of the European Society of Cardiology Council for Basic Cardiovascular Science. We begin with non-coding RNAs which have emerged as central regulators cardiovascular biology, and then discuss how technological developments in single-cell 'omics are providing new insights into cardiovascular development, inflammation, and disease. We also review recent discoveries on the biology of extracellular vesicles in driving either protective or pathogenic responses...
October 21, 2022: Cardiovascular Research
#27
JOURNAL ARTICLE
Sara Larivière, Jessica Royer, Raúl Rodríguez-Cruces, Casey Paquola, Maria Eugenia Caligiuri, Antonio Gambardella, Luis Concha, Simon S Keller, Fernando Cendes, Clarissa L Yasuda, Leonardo Bonilha, Ezequiel Gleichgerrcht, Niels K Focke, Martin Domin, Felix von Podewills, Soenke Langner, Christian Rummel, Roland Wiest, Pascal Martin, Raviteja Kotikalapudi, Terence J O'Brien, Benjamin Sinclair, Lucy Vivash, Patricia M Desmond, Elaine Lui, Anna Elisabetta Vaudano, Stefano Meletti, Manuela Tondelli, Saud Alhusaini, Colin P Doherty, Gianpiero L Cavalleri, Norman Delanty, Reetta Kälviäinen, Graeme D Jackson, Magdalena Kowalczyk, Mario Mascalchi, Mira Semmelroch, Rhys H Thomas, Hamid Soltanian-Zadeh, Esmaeil Davoodi-Bojd, Junsong Zhang, Gavin P Winston, Aoife Griffin, Aditi Singh, Vijay K Tiwari, Barbara A K Kreilkamp, Matteo Lenge, Renzo Guerrini, Khalid Hamandi, Sonya Foley, Theodor Rüber, Bernd Weber, Chantal Depondt, Julie Absil, Sarah J A Carr, Eugenio Abela, Mark P Richardson, Orrin Devinsky, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Erik Kaestner, Sean N Hatton, Sjoerd B Vos, Lorenzo Caciagli, John S Duncan, Christopher D Whelan, Paul M Thompson, Sanjay M Sisodiya, Andrea Bernasconi, Angelo Labate, Carrie R McDonald, Neda Bernasconi, Boris C Bernhardt
Epilepsy is associated with genetic risk factors and cortico-subcortical network alterations, but associations between neurobiological mechanisms and macroscale connectomics remain unclear. This multisite ENIGMA-Epilepsy study examined whole-brain structural covariance networks in patients with epilepsy and related findings to postmortem epilepsy risk gene expression patterns. Brain network analysis included 578 adults with temporal lobe epilepsy (TLE), 288 adults with idiopathic generalized epilepsy (IGE), and 1328 healthy controls from 18 centres worldwide...
July 27, 2022: Nature Communications
#28
JOURNAL ARTICLE
Elke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans, Dmitrijs Rots, Lukas Lütje, Tazeen Ashraf, Rachel Baker, Mouna Barat-Houari, Brad Angle, Nicolas Chatron, Anne-Sophie Denommé-Pichon, Orrin Devinsky, Christèle Dubourg, Frances Elmslie, Houda Zghal Elloumi, Laurence Faivre, Sarah Fitzgerald-Butt, David Geneviève, Jacqueline A C Goos, Benjamin M Helm, Usha Kini, Amaia Lasa-Aranzasti, Gaetan Lesca, Sally A Lynch, Irene M J Mathijssen, Ruth McGowan, Kristin G Monaghan, Sylvie Odent, Rolph Pfundt, Audrey Putoux, Jeroen van Reeuwijk, Gijs W E Santen, Erina Sasaki, Arthur Sorlin, Peter J van der Spek, Alexander P A Stegmann, Sigrid M A Swagemakers, Irene Valenzuela, Eléonore Viora-Dupont, Antonio Vitobello, Stephanie M Ware, Mathys Wéber, Christian Gilissen, Karen J Low, Simon E Fisher, Lisenka E L M Vissers, Maggie M K Wong, Tjitske Kleefstra
PURPOSE: Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants. METHODS: We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments...
July 13, 2022: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#29
JOURNAL ARTICLE
Johannes Herrmann, Christopher Lotz, Christian Karagiannidis, Steffen Weber-Carstens, Stefan Kluge, Christian Putensen, Andreas Wehrfritz, Karsten Schmidt, Richard K Ellerkmann, Daniel Oswald, Gösta Lotz, Viviane Zotzmann, Onnen Moerer, Christian Kühn, Matthias Kochanek, Ralf Muellenbach, Matthias Gaertner, Falk Fichtner, Florian Brettner, Michael Findeisen, Markus Heim, Tobias Lahmer, Felix Rosenow, Nils Haake, Philipp M Lepper, Peter Rosenberger, Stephan Braune, Mirjam Kohls, Peter Heuschmann, Patrick Meybohm
BACKGROUND: Severe COVID-19 induced acute respiratory distress syndrome (ARDS) often requires extracorporeal membrane oxygenation (ECMO). Recent German health insurance data revealed low ICU survival rates. Patient characteristics and experience of the ECMO center may determine intensive care unit (ICU) survival. The current study aimed to identify factors affecting ICU survival of COVID-19 ECMO patients. METHODS: 673 COVID-19 ARDS ECMO patients treated in 26 centers between January 1st 2020 and March 22nd 2021 were included...
June 28, 2022: Critical Care: the Official Journal of the Critical Care Forum
#30
EDITORIAL
Rory R Koenen, Christian Weber
No abstract text is available yet for this article.
May 2022: JACC. Basic to Translational Science
#31
JOURNAL ARTICLE
Stéphanie Weber, Alice Didelot, Nelly Agrinier, Laurent Peyrin-Biroulet, Evelyne Schvoerer, Christian Rabaud, Hélène Jeulin
BACKGROUND: Exposure of healthcare workers (HCW) to SARS-CoV-2 is a public health concern. Not only are HCWs particularly exposed to SARS-CoV-2, but their contamination can also weaken the healthcare system. METHODS: We analyzed exposure of French University Hospital HCWs to SARS-CoV-2 through history of positive RT-PCR test and SARS-CoV-2 seroprevalence. Potential risk factors, such as age, BMI, having children or not, working in a COVID-19 unit, or smoking were explored...
May 17, 2022: Infection, Disease & Health
#32
JOURNAL ARTICLE
Elena Basenach, Alisa Förster, Peter Raab, Samer Alzein, Gunnar Schmidt, Joachim K Krauss, Brigitte Schlegelberger, Fedor Heidenreich, Bernd Auber, Christian Hartmann, Bettina Wiese, Ruthild G Weber
Neurofibromatosis type 2 (NF2) is a tumor predisposition syndrome characterized by the growth of schwannomas, especially bilateral vestibular schwannomas (VS), meningiomas, and ependymomas. The anti-VEGF antibody bevacizumab has shown efficacy for VS in some NF2 patients. However, there is limited data on the effect of bevacizumab on non-vestibular tumors, and on the correlation between therapy response and genotype. Here, we report on a 33-year-old patient with bilateral VS, 14 additional intracranial or spinal schwannomas, and a meningioma treated with bevacizumab, off-label in the European Union, for 2 years...
July 2022: Clinical Neuropathology
#33
JOURNAL ARTICLE
Christian Fottner, Stefanie Sollfrank, Mursal Ghiasi, Anke Adenaeuer, Thomas Musholt, Arno Schad, Matthias Miederer, Simin Schadmand-Fischer, Matthias M Weber, Karl J Lackner, Heidi Rossmann
Adult-onset familial insulinomatosis is a rare disorder with recurrent, severe hypoglycemia caused by multiple insulin-secreting pancreatic tumors. The etiology was unclear until the variant p.Ser64Phe in the transcription factor MAFA, a key coordinator of β-cell insulin secretion, was defined as the cause in two families. We here describe detailed genetic, clinical, and family analyses of two sisters with insulinomatosis, aiming to identify further disease causes. Using exome sequencing, we detected a novel, heterozygous missense variant, p...
April 1, 2022: Cancers
#34
JOURNAL ARTICLE
Franziska C Weber, Heidi Danker-Hopfe, Ezgi Dogan-Sander, Lukas Frase, Anna Hansel, Nicole Mauche, Christian Mikutta, Diana Nemeth, Kneginja Richter, Claudia Schilling, Martina Sebestova, Marian M Spath, Christoph Nissen, Thomas C Wetter
Background: There are only limited reports on the prevalence of restless legs syndrome (RLS) in patients with psychiatric disorders. The present study aimed to evaluate the prevalence and clinical correlates in psychiatric inpatients in Germany and Switzerland. Methods: This is a multicenter cross-sectional study of psychiatric inpatients with an age above 18 years that were diagnosed and evaluated face-to-face using the International RLS Study Group criteria (IRLSSG) and the International RLS severity scale (IRLS)...
2022: Frontiers in Psychiatry
#35
JOURNAL ARTICLE
Katharina Wang, Ina Schütze, Sebastian Gulde, Nicole Bechmann, Susan Richter, Jana Helm, Michael Lauseker, Julian Maurer, Astrid Reul, Gerald Spoettl, Barbara Klink, Doreen William, Thomas Knösel, Juliane Friemel, Michel Bihl, Achim Weber, Maria Fankhauser, Laura Schober, Diana Vetter, Martina Broglie Däppen, Christian G Ziegler, Martin Ullrich, Jens Pietzsch, Stefan R Bornstein, Christian Lottspeich, Matthias Kroiss, Martin Fassnacht, Vera Ursula Julia Wenter, Roland Ladurner, Constanze Hantel, Martin Reincke, Graeme Eisenhofer, Ashley B Grossman, Karel Pacak, Felix Beuschlein, Christoph J Auernhammer, Natalia S Pellegata, Svenja Nölting
Aggressive pheochromocytomas and paragangliomas (PPGLs) are difficult to treat, and molecular targeting is being increasingly considered, but with variable results. This study investigates established and novel molecular-targeted drugs and chemotherapeutic agents for the treatment of PPGLs in human primary cultures and murine cell line spheroids. In PPGLs from 33 patients, including 7 metastatic PPGLs, we identified germline or somatic driver mutations in 79% of cases, allowing us to assess potential differences in drug responsivity between pseudohypoxia-associated cluster 1-related (n = 10) and kinase signaling-associated cluster 2-related (n = 14) PPGL primary cultures...
May 9, 2022: Endocrine-related Cancer
#36
MULTICENTER STUDY
Matthias Kochanek, Jan Kochanek, Boris Böll, Dennis A Eichenauer, Gernot Beutel, Hendrik Bracht, Stephan Braune, Florian Eisner, Sigrun Friesecke, Ulf Günther, Gottfried Heinz, Michael Hallek, Christian Karagiannidis, Stefan Kluge, Klaus Kogelmann, Pia Lebiedz, Philipp M Lepper, Tobias Liebregts, Catherina Lueck, Ralf M Muellenbach, Matthias Hansen, Christian Putensen, Peter Schellongowski, Jens-Christian Schewe, Kathrin Schumann-Stoiber, Frederik Seiler, Peter Spieth, Steffen Weber-Carstens, Daniel Brodie, Elie Azoulay, Alexander Shimabukuro-Vornhagen
PURPOSE: The question of whether cancer patients with severe respiratory failure benefit from veno-venous extracorporeal membrane oxygenation (vv-ECMO) remains unanswered. We, therefore, analyzed clinical characteristics and outcomes of a large cohort of cancer patients treated with vv-ECMO with the aim to identify prognostic factors. METHODS: 297 cancer patients from 19 German and Austrian hospitals who underwent vv-ECMO between 2009 and 2019 were retrospectively analyzed...
March 2022: Intensive Care Medicine
#37
REVIEW
H Christian Weber
PURPOSE OF REVIEW: Irritable bowel syndrome (IBS) is a highly prevalent functional gastrointestinal disorder (FGID) characterized by chronic abdominal pain and altered bowel habits. The diagnosis of IBS is based on the presence of defined clinical Rome IV criteria in the absence of alarm features. The majority of patients with IBS report of food triggers eliciting typical IBS symptoms and trying to modify their dietary intake. RECENT FINDINGS: FGID including IBS are defined as disorders of the gut-brain interaction...
April 1, 2022: Current Opinion in Endocrinology, Diabetes, and Obesity
#38
JOURNAL ARTICLE
Elena Rensen, Stefano Pietropaoli, Florian Mueller, Christian Weber, Sylvie Souquere, Sina Sommer, Pierre Isnard, Marion Rabant, Jean-Baptiste Gibier, Fabiola Terzi, Etienne Simon-Loriere, Marie-Anne Rameix-Welti, Gérard Pierron, Giovanna Barba-Spaeth, Christophe Zimmer
The current COVID-19 pandemic is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The positive-sense single-stranded RNA virus contains a single linear RNA segment that serves as a template for transcription and replication, leading to the synthesis of positive and negative-stranded viral RNA (vRNA) in infected cells. Tools to visualize vRNA directly in infected cells are critical to analyze the viral replication cycle, screen for therapeutic molecules, or study infections in human tissue...
April 2022: Life Science Alliance
#39
JOURNAL ARTICLE
Vitali Koch, Christophe Weber, Johannes H Riffel, Kristina Buchner, Sebastian J Buss, Selina Hein, Derliz Mereles, Marco Hagenmueller, Christian Erbel, Winfried März, Christian Booz, Moritz H Albrecht, Thomas J Vogl, Norbert Frey, Stefan E Hardt, Marco Ochs
PURPOSE: Low plasma concentrations of the amino acid homoarginine (HA) have been shown to correlate with adverse cardiovascular outcome, particularly in patients with chronic kidney disease. The present study sought to investigate the effect of HA treatment on cardiac remodeling in rats undergoing artificially induced renal insufficiency by 5/6 nephrectomy (5/6 Nx). METHODS: A total of 33 male Wistar rats were randomly divided into sham and 5/6 Nx groups, receiving either placebo treatment or 400 mg·kg-1 ·day-1 HA over a 4-week period...
January 2022: Journal of Cardiovascular Pharmacology and Therapeutics
#40
JOURNAL ARTICLE
Christian Malte Boßelmann, Victoria San Antonio-Arce, Andreas Schulze-Bonhage, Susanne Fauser, Pia Zacher, Thomas Mayer, Javier Aparicio, Kristina Albers, Thomas Cloppenborg, Wolfram Kunz, Rainer Surges, Steffen Syrbe, Yvonne Weber, Stefan Wolking
INTRODUCTION: Genetic testing in people with epilepsy may support presurgical decision-making. It is currently unclear to what extent epilepsy centres use genetic testing in presurgical evaluation. METHODS: We performed an exploratory survey among members of the German Society for Epileptology to study the current practice of genetic testing in presurgical evaluation at the respective sites. Survey participants contributed educational case reports. RESULTS: The majority of participants consider genetic testing to be useful in individuals with familial syndromes or phenotypic features suggesting a genetic etiology...
December 17, 2021: Seizure: the Journal of the British Epilepsy Association
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