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JOURNAL ARTICLE
Tatjana Vlajnic, Obinna Chijioke, Luca Roma, Spasenija Savic Prince, Tobias Zellweger, Cyrill A Rentsch, Lukas Bubendorf
Homozygous deletion of the chromosomal region 9p21.3 is common in urothelial carcinoma (UC) and leads to loss of several genes, including CDKN2A and MTAP, resulting in loss of MTAP protein expression. Here, we aimed at exploring the diagnostic potential of MTAP immunohistochemistry (IHC) as a surrogate marker for homozygous 9p21.3 deletion (9p21 HD) in UC. MTAP status was determined by IHC on 27 UC tissue specimens with known 9p21.3 status as defined by fluorescence in situ hybridization (FISH) in matched cytological specimens, by IHC and FISH on a tissue microarray (TMA) containing 359 UC at different stages, and by IHC on 729 consecutive UC from routine practice...
April 17, 2024: Modern Pathology
#2
JOURNAL ARTICLE
Ganna Isayeva, Klara Rumora, Eliska Potlukova, Jan-Philipp Leibfarth, Ibrahim Schäfer, Zsofia Bartha, Michael J Zellweger, Marten Trendelenburg, Trine Korsgaard Hejlesen, Annette Gudmann Hansen, Steffen Thiel, Christian Mueller
BACKGROUND: This study aimed to evaluate the diagnostic and prognostic potential of MAp19, a regulating component of the lectin pathway of the complement system, in patients with suspected functionally relevant coronary artery disease (fCAD) as well as the determinants of MAp19 levels. METHODS: The presence of fCAD was adjudicated using myocardial perfusion imaging with single-photon emission tomography and, where available, coronary angiography. MAp19 levels were measured in participants at rest, at peak stress tests, and two hours after the stress...
April 8, 2024: Clinica Chimica Acta; International Journal of Clinical Chemistry
#3
JOURNAL ARTICLE
Miriam Albus, Tobias Zimmermann, Daniela Median, Klara Rumora, Ganna Isayeva, Melissa Amrein, Ibrahim Schaefer, Joan Walter, Evita Michel, Gabrielle Huré, Ivo Strebel, Federico Caobelli, Philip Haaf, Simon M Frey, Christian Mueller, Michael J Zellweger
AIM: We aimed to test the hypothesis if combining coronary artery calcium score (Ca-score) as a quantitative anatomical marker of coronary atherosclerosis with high-sensitive cardiac troponin as a quantitative biochemical marker of myocardial injury provided incremental value in the detection of functional relevant CAD (fCAD) and risk stratification. METHODS AND RESULTS: Consecutive patients undergoing myocardial perfusion SPECT (MPS) without prior CAD were enrolled...
April 9, 2024: European Heart Journal Cardiovascular Imaging
#4
JOURNAL ARTICLE
S S Dong, X L Huang, Y J Chen
No abstract text is available yet for this article.
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
#5
JOURNAL ARTICLE
Karine Moschetti, Loïc Brunner, Alessia Abderhalden-Zellweger, Isabelle Probst, Saira-Christine Renteria, Julien Vonlanthen, Peggy Krief
According to the Swiss legislation on maternity protection in the workplace (OProMa), if pregnant workers are exposed to occupational hazards and no protective measures are taken, a gynecologist will prescribe a certificate of preventive leave and the women must stop working. Returning to work is only possible if job adjustments are made. This study aims to evaluate the burden of absences on companies and to examine the predictors of the return to work for pregnant workers on preventive leave, by examining both the probability of return to work and the time required to return to work...
2024: PloS One
#6
Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti
[This corrects the article DOI: 10.3389/fneur.2022.1072256.].
2024: Frontiers in Neurology
#7
JOURNAL ARTICLE
Frederik M Nielsen, Thomas L Klitgaard, Martin Siegemund, Jon H Laake, Katrin M Thormar, Jade M Cole, Søren R Aagaard, Anne-Marie G Bunzel, Stine R Vestergaard, Peter K Langhoff, Caroline H Pedersen, Josefine Ø Hejlesen, Salim Abdelhamid, Anna Dietz, Caroline E Gebhard, Nuria Zellweger, Alexa Hollinger, Lone M Poulsen, Sarah Weihe, Nina C Andersen-Ranberg, Ulf G Pedersen, Ole Mathiesen, Anne Sofie Andreasen, Helene Brix, Jonas J Thomsen, Christina H Petersen, Morten H Bestle, Sine Wichmann, Martin S Lund, Karoline M Mortensen, Björn A Brand, Nicolai Haase, Susanne A Iversen, Klaus V Marcussen, Anne C Brøchner, Morten Borup, Thorbjørn Grøfte, Thomas Hildebrandt, Maj-Brit N Kjær, Janus Engstrøm, Theis Lange, Anders Perner, Olav L Schjørring, Bodil S Rasmussen
IMPORTANCE: Supplemental oxygen is ubiquitously used in patients with COVID-19 and severe hypoxemia, but a lower dose may be beneficial. OBJECTIVE: To assess the effects of targeting a Pao2 of 60 mm Hg vs 90 mm Hg in patients with COVID-19 and severe hypoxemia in the intensive care unit (ICU). DESIGN, SETTING, AND PARTICIPANTS: Multicenter randomized clinical trial including 726 adults with COVID-19 receiving at least 10 L/min of oxygen or mechanical ventilation in 11 ICUs in Europe from August 2020 to March 2023...
March 19, 2024: JAMA
#8
Borst Stephanie, Ciliberto Michael, Thati Ganganna Sreenath
Zellweger Syndrome is a peroxisomal disorder that can lead to elevation of long chain fatty acids and epilepsy, which can be drug resistant. The treatment of drug resistant epilepsy can include the ketogenic diet in appropriately chosen patients. Typically, the ketogenic diet is contraindicated in individuals with defects in fatty acid metabolism because of the diet's reliance on medium and long chain fatty acids. To our knowledge this is the first publication outlining the use of the ketogenic diet in patients with defects in beta oxidation of very long chain fatty acids...
2024: Epilepsy & behavior reports
#9
JOURNAL ARTICLE
Florian Marks, Justin Im, Se Eun Park, Gi Deok Pak, Hyon Jin Jeon, Lady Rosny Wandji Nana, Marie-France Phoba, Lisette Mbuyi-Kalonji, Ondari D Mogeni, Biruk Yeshitela, Ursula Panzner, Ligia María Cruz Espinoza, Tigist Beyene, Michael Owusu-Ansah, Sampson Twumasi-Ankrah, Melese Yeshambaw, Ashenafi Alemu, Oluwafemi J Adewusi, Olukemi Adekanmbi, Ellen Higginson, Akinlolu Adepoju, Sarah Agbi, Enoch G Cakpo, Veronica O Ogunleye, Gaëlle Nkoji Tunda, Odion O Ikhimiukor, Jules Mbuyamba, Trevor Toy, Francis Opoku Agyapong, Isaac Osei, John Amuasi, Tsiriniaina Jean Luco Razafindrabe, Tiana Mirana Raminosoa, Gabriel Nyirenda, Njariharinjakampionona Randriamampionona, Hyeong Won Seo, Hyejin Seo, Mohamadou Siribie, Megan E Carey, Michael Owusu, Christian G Meyer, Ndrainaharimira Rakotozandrindrainy, Nimarko Sarpong, Mathilde Razafindrakalia, Ravomialisoa Razafimanantsoa, Moussa Ouedraogo, Yeonseon J Kim, Jooah Lee, Raphaël M Zellweger, Sophie S Y Kang, Ju Yeon Park, John A Crump, Liselotte Hardy, Jan Jacobs, Denise O Garrett, Jason R Andrews, Nimesh Poudyal, Deok Ryun Kim, John D Clemens, Stephen G Baker, Jerome H Kim, Gordon Dougan, Jonathan D Sugimoto, Sandra Van Puyvelde, Aderemi Kehinde, Oluwafemi A Popoola, Vittal Mogasale, Robert F Breiman, William R MacWright, Abraham Aseffa, Birkneh Tilahun Tadesse, Andrea Haselbeck, Yaw Adu-Sarkodie, Mekonnen Teferi, Abdramane Soura Bassiahi, Iruka N Okeke, Octavie Lunguya-Metila, Ellis Owusu-Dabo, Raphaël Rakotozandrindrainy
BACKGROUND: Typhoid Fever remains a major cause of morbidity and mortality in low-income settings. The Severe Typhoid in Africa programme was designed to address regional gaps in typhoid burden data and identify populations eligible for interventions using novel typhoid conjugate vaccines. METHODS: A hybrid design, hospital-based prospective surveillance with population-based health-care utilisation surveys, was implemented in six countries in sub-Saharan Africa...
April 2024: Lancet Global Health
#10
JOURNAL ARTICLE
Imran Khaliq, Christian Rixen, Florian Zellweger, Catherine H Graham, Martin M Gossner, Ian R McFadden, Laura Antão, Jakob Brodersen, Shyamolina Ghosh, Francesco Pomati, Ole Seehausen, Tobias Roth, Thomas Sattler, Sarah R Supp, Maria Riaz, Niklaus E Zimmermann, Blake Matthews, Anita Narwani
Rising temperatures are leading to increased prevalence of warm-affinity species in ecosystems, known as thermophilisation. However, factors influencing variation in thermophilisation rates among taxa and ecosystems, particularly freshwater communities with high diversity and high population decline, remain unclear. We analysed compositional change over time in 7123 freshwater and 6201 terrestrial, mostly temperate communities from multiple taxonomic groups. Overall, temperature change was positively linked to thermophilisation in both realms...
March 1, 2024: Nature Communications
#11
JOURNAL ARTICLE
Thomas Vanneste, Leen Depauw, Emiel De Lombaerde, Camille Meeussen, Sanne Govaert, Karen De Pauw, Pieter Sanczuk, Kurt Bollmann, Jörg Brunet, Kim Calders, Sara A O Cousins, Martin Diekmann, Cristina Gasperini, Bente J Graae, Per-Ola Hedwall, Giovanni Iacopetti, Jonathan Lenoir, Sigrid Lindmo, Anna Orczewska, Quentin Ponette, Jan Plue, Federico Selvi, Fabien Spicher, Hans Verbeeck, Florian Zellweger, Kris Verheyen, Pieter Vangansbeke, Pieter De Frenne
Forest biodiversity and ecosystem services are hitherto predominantly quantified in forest interiors, well away from edges. However, these edges also represent a substantial proportion of the global forest cover. Here we quantified plant biodiversity and ecosystem service indicators in 225 plots along forest edge-to-interior transects across Europe. We found strong trade-offs: phylogenetic diversity (evolutionary measure of biodiversity), proportion of forest specialists, decomposition and heatwave buffering increased towards the interior, whereas species richness, nectar production potential, stemwood biomass and tree regeneration decreased...
February 29, 2024: Nature Ecology & Evolution
#12
JOURNAL ARTICLE
Prajwala Yogi, Chunauti Bahik, Rahul Yadav, Puja Bhattarai, Rakshya Pandey, Sunil Raja Manandar
UNLABELLED: Zellweger syndrome is an autosomal recessive disease within the spectrum of peroxisome biogenesis disorder manifesting in the neonatal period with profound dysfunction of the central nervous system, liver and kidney. Common clinical presentations include hypotonia, seizure, hepatomegaly, craniofacial dysmorphism and early death. Mutation in one of the PEX genes coding for a peroxisome assembly protein creates a functionally incompetent organelle causing accumulation of very long chain fatty acids in various organs...
February 24, 2024: JNMA; Journal of the Nepal Medical Association
#13
JOURNAL ARTICLE
Laxman Manandhar, Raghbendra Kumar Dutta, Pradeep Devkota, Arun Chhetri, Xiaofan Wei, Channy Park, Hyug Moo Kwon, Raekil Park
BACKGROUND: Calcium is a ubiquitous intracellular messenger that regulates the expression of various genes involved in cell proliferation, differentiation, and motility. The involvement of calcium in diverse metabolic pathways has been suggested. However, the effect of calcium in peroxisomes, which are involved in fatty acid oxidation and scavenges the result reactive oxygen species (ROS), remains elusive. In addition, impaired peroxisomal ROS inhibit the mammalian target of rapamycin complex 1 (mTORC1) and promote autophagy...
February 21, 2024: Cell Communication and Signaling: CCS
#14
JOURNAL ARTICLE
Quentin Raas, Austin Wood, Tamara J Stevenson, Shanna Swartwood, Suzanne Liu, Rangaramanujam M Kannan, Sujatha Kannan, Joshua L Bonkowsky
BACKGROUND: Mitchell syndrome is a rare, neurodegenerative disease caused by an ACOX1 gain-of-function mutation (c.710A>G; p.N237S), with fewer than 20 reported cases. Affected patients present with leukodystrophy, seizures, and hearing loss. ACOX1 serves as the rate-limiting enzyme in peroxisomal beta-oxidation of very long-chain fatty acids. The N237S substitution has been shown to stabilize the active ACOX1 dimer, resulting in dysregulated enzymatic activity, increased oxidative stress, and glial damage...
2024: Frontiers in Pediatrics
#15
JOURNAL ARTICLE
Brendon D Parsons, Daniel Medina-Luna, Michal Scur, Marinella Pinelli, Gayani S Gamage, Rebecca A Chilvers, Yannick Hamon, Ibrahim H I Ahmed, Stéphane Savary, Andrew P Makrigiannis, Nancy E Braverman, Juan F Rodriguez-Alcazar, Eicke Latz, Tobias K Karakach, Francesca Di Cara
Peroxisome biogenesis disorders (PBDs) represent a group of metabolic conditions that cause severe developmental defects. Peroxisomes are essential metabolic organelles, present in virtually every eukaryotic cell and mediating key processes in immunometabolism. To date, the full spectrum of PBDs remains to be identified, and the impact PBDs have on immune function is unexplored. This study presents a characterization of the hepatic immune compartment of a neonatal PBD mouse model at single-cell resolution to establish the importance and function of peroxisomes in developmental hematopoiesis...
February 6, 2024: Cell Reports
#16
JOURNAL ARTICLE
Ludovic Mayer, Céline Degrendele, Petr Šenk, Jiři Kohoutek, Petra Přibylová, Petr Kukučka, Lisa Melymuk, Amandine Durand, Sylvain Ravier, Andres Alastuey, Alex R Baker, Urs Baltensperger, Kathrin Baumann-Stanzer, Tobias Biermann, Pernilla Bohlin-Nizzetto, Darius Ceburnis, Sébastien Conil, Cédric Couret, Anna Degórska, Evangelia Diapouli, Sabine Eckhardt, Konstantinos Eleftheriadis, Grant L Forster, Korbinian Freier, François Gheusi, Maria I Gini, Heidi Hellén, Stephan Henne, Hartmut Herrmann, Adéla Holubová Šmejkalová, Urmas Hõrrak, Christoph Hüglin, Heikki Junninen, Adam Kristensson, Laurent Langrene, Janne Levula, Marie Lothon, Elke Ludewig, Ulla Makkonen, Jana Matejovičová, Nikolaos Mihalopoulos, Veronika Mináriková, Wolfgang Moche, Steffen M Noe, Noemí Pérez, Tuukka Petäjä, Véronique Pont, Laurent Poulain, Etienne Quivet, Gabriela Ratz, Till Rehm, Stefan Reimann, Ivan Simmons, Jeroen E Sonke, Mar Sorribas, Ronald Spoor, Daan P J Swart, Vasiliki Vasilatou, Henri Wortham, Margarita Yela, Pavlos Zarmpas, Claudia Zellweger Fäsi, Kjetil Tørseth, Paolo Laj, Jana Klánová, Gerhard Lammel
Risk assessment of pesticide impacts on remote ecosystems makes use of model-estimated degradation in air. Recent studies suggest these degradation rates to be overestimated, questioning current pesticide regulation. Here, we investigated the concentrations of 76 pesticides in Europe at 29 rural, coastal, mountain, and polar sites during the agricultural application season. Overall, 58 pesticides were observed in the European atmosphere. Low spatial variation of 7 pesticides suggests continental-scale atmospheric dispersal...
February 7, 2024: Environmental Science & Technology
#17
Yuan Huang, Lingling Liu, Feng Fang, Hua Zhou, Xinglou Liu
BACKGROUND: The protein PEX26 is involved in the biogenesis and maintenance of peroxisomes, which are organelles within cells. Dysfunction of PEX26 results in peroxisome biogenesis disorders (PBDs) complementation group 8 (CG8), leading to Zellweger spectrum disorders (ZSDs). These disorders present as a syndrome with multiple congenital anomalies, varying in clinical severity. CASE DESCRIPTION: We present the case of a 7-month-old boy who exhibited hepatic impairment with hepatomegaly, sensorineural hearing loss, developmental delay, abnormal ossification, and mild craniofacial dysmorphology...
January 29, 2024: Translational Pediatrics
#18
JOURNAL ARTICLE
Blai Morales-Romero, José Manuel González de Aledo-Castillo, Cristina Fernández Sierra, Carmen Martínez Carreira, Carles Zaragoza Bonet, Rosa Fernández Bonifacio, Maria Antònia Caro Miró, Ana Argudo-Ramírez, Rosa María López Galera, Judit García-Villoria
The gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method's time-consuming nature and limitations in cases which present normal VLCFA levels necessitates alternative approaches. The analysis of C26:0-lysophosphatydylcholine (C26:0-LPC) in dried blood spot samples by tandem-mass spectrometry (MS/MS) has successfully been implemented in certain newborn screening programs to diagnose X-linked adrenoleukodystrophy (ALD)...
February 4, 2024: Journal of Lipid Research
#19
REVIEW
Matthew Satariano, Shaarav Ghose, Rupesh Raina
Renal cystic diseases (RCDs) can arise from utero to early adulthood and present with a variety of symptoms including renal, hepatic, and cardiovascular manifestations. It is well known that common RCDs such as autosomal polycystic kidney disease and autosomal recessive kidney disease are linked to genes such as PKD1 and PKHD1, respectively. However, it is important to investigate the genetic pathophysiology of how these gene mutations lead to clinical symptoms and include some of the less-studied RCDs, such as autosomal dominant tubulointerstitial kidney disease, multicystic dysplastic kidney, Zellweger syndrome, calyceal diverticula, and more...
January 11, 2024: Genes
#20
JOURNAL ARTICLE
Simon M Frey, Olivier F Clerc, Ursina Honegger, Melissa Amrein, Kathrin Thommen, Federico Caobelli, Philip Haaf, Christian E Müller, Michael J Zellweger
BACKGROUND: Despite clinical suspicion, many non-invasive tests for coronary artery disease (CAD) are normal. Coronary artery calcification score (CACS) is a well-validated method to detect and risk stratify CAD. Patients with zero calcium score (ZCS) rarely have abnormal tests. Therefore, aims were to evaluate CACS as a gatekeeper to further functional downstream testing for CAD and estimate potential radiation and cost savings. METHODS: Consecutive patients with suspected CAD referred for PET were included (n = 2640)...
August 2023: Journal of Nuclear Cardiology
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