Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#21
REVIEW
Hung-Yu Shih, Quentin Raas, Joshua L Bonkowsky
Inherited leukodystrophies are genetic disorders characterized by abnormal white matter in the central nervous system. Although individually rare, there are more than 400 distinct types of leukodystrophies with a cumulative incidence of 1 in 4500 live births. The pathophysiology of most leukodystrophies is poorly understood, there are treatments for only a few, and there is significant morbidity and mortality, suggesting a critical need for improvements in this field. A variety of animal, cell, and induced pluripotent stem cell-derived models have been developed for leukodystrophies, but with significant limitations in all models...
January 2024: Development, Growth & Differentiation
#22
JOURNAL ARTICLE
Caroline E Gebhard, Claudia Sütsch, Pimrapat Gebert, Bianca Gysi, Susan Bengs, Atanas Todorov, Manja Deforth, Philipp K Buehler, Alexander Meisel, Reto A Schuepbach, Annelies S Zinkernagel, Silvio D Brugger, Claudio Acevedo, Dimitri Patriki, Benedikt Wiggli, Jürg H Beer, Andrée Friedl, Raphael Twerenbold, Gabriela M Kuster, Hans Pargger, Sarah Tschudin-Sutter, Joerg C Schefold, Thibaud Spinetti, Chiara Henze, Mina Pasqualini, Dominik F Sager, Lilian Mayrhofer, Mirjam Grieder, Janna Tontsch, Fabian C Franzeck, Pedro D Wendel Garcia, Daniel A Hofmaenner, Thomas Scheier, Jan Bartussek, Ahmed Haider, Muriel Grämer, Nidaa Mikail, Alexia Rossi, Núria Zellweger, Petra Opić, Angela Portmann, Roland von Känel, Aju P Pazhenkottil, Michael Messerli, Ronny R Buechel, Philipp A Kaufmann, Valerie Treyer, Martin Siegemund, Ulrike Held, Vera Regitz-Zagrosek, Catherine Gebhard
BackgroundWomen are overrepresented among individuals with post-acute sequelae of SARS-CoV-2 infection (PASC). Biological (sex) as well as sociocultural (gender) differences between women and men might account for this imbalance, yet their impact on PASC is unknown.AimWe assessed the impact of sex and gender on PASC in a Swiss population.MethodOur multicentre prospective cohort study included 2,856 (46% women, mean age 44.2 ± 16.8 years) outpatients and hospitalised patients with PCR-confirmed SARS-CoV-2 infection...
January 2024: Euro Surveillance
#23
JOURNAL ARTICLE
Ivana Bratic Hench, Luca Roma, Floriana Conticelli, Lenard Bubendorf, Byron Calgua, Clémentine Le Magnen, Salvatore Piscuoglio, Mark A Rubin, Alin Chirindel, Guillaume P Nicolas, Tatjana Vlajnic, Tobias Zellweger, Arnoud J Templeton, Frank Stenner, Christian Ruiz, Cyrill Rentsch, Lukas Bubendorf
Most men with prostate cancer (PCa), despite potentially curable localized disease at initial diagnosis, progress to metastatic disease. Despite numerous treatment options, choosing the optimal treatment for individual patients remains challenging. Biomarkers guiding treatment sequences in an advanced setting are lacking. To estimate the diagnostic potential of liquid biopsies in guiding personalized treatment of PCa, we evaluated the utility of a custom-targeted next-generation sequencing (NGS) panel based on the AmpliSeq HD Technology...
December 21, 2023: Cancers
#24
JOURNAL ARTICLE
Kyla Germain, Raphaella W L So, Laura F DiGiovanni, Joel C Watts, Robert H J Bandsma, Peter K Kim
Selective autophagy is an essential process to maintain cellular homeostasis through the constant recycling of damaged or superfluous components. Over a dozen selective autophagy pathways mediate the degradation of diverse cellular substrates, but whether these pathways can influence one another remains unknown. We address this question using pexophagy, the autophagic degradation of peroxisomes, as a model. We show in cells that upregulated pexophagy impairs the selective autophagy of both mitochondria and protein aggregates by exhausting the autophagy initiation factor, ULK1...
January 9, 2024: Nature Communications
#25
JOURNAL ARTICLE
Suellen Jackson, Rebecca Freeman, Adriana Noronha, Hafsah Jamil, Eric Chavez, Jason Carmichael, Kaylee M Ruiz, Christine Miller, Sarah Benke, Rosalie Perrot, Maryam Hockley, Kady Murphy, Aimiel Casillan, Lily Radanovich, Roger Deforest, Mark E Nunes, Carolina Galarreta-Aima, Richard Sidlow, Yaron Einhorn, Jeremy Woods
Data science methodologies can be utilized to ascertain and analyze clinical genetic data that is often unstructured and rarely used outside of patient encounters. Genetic variants from all genetic testing resulting to a large pediatric healthcare system for a 5-year period were obtained and reinterpreted utilizing the previously validated Franklin© Artificial Intelligence (AI). Using PowerBI©, the data were further matched to patients in the electronic healthcare record to associate with demographic data to generate a variant data table and mapped by ZIP codes...
January 2, 2024: American Journal of Medical Genetics. Part A
#26
JOURNAL ARTICLE
P Yang, C Z Zeng, X W Tao, S W Rong, Y Long, L K Zeng
Objective: To summarize the clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation. Methods: This was a case series research. Clinical date and genetic results of 2 neonatal cases of Zellweger syndrome caused by PEX6 gene variation in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology and Affiliated Hospital of Guangdong Medical University from July 2021 to July 2022 were retrospectively collected and analyzed...
January 2, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
#27
JOURNAL ARTICLE
Tatjana Vlajnic, David C Müller, Christian Ruiz, René Schönegg, Hans-Helge Seifert, George N Thalmann, Tobias Zellweger, Clémentine Le Magnen, Cyrill A Rentsch, Lukas Bubendorf
BACKGROUND: Prostate cancer is morphologically and molecularly heterogeneous. Genomic heterogeneity might be mirrored by variability in DNA ploidy. Aneuploidy is a hallmark of genomic instability and associated with tumor aggressiveness. Little attention has been paid to the biological significance of the diploid tumor cell population that often coexists with aneuploid populations. Here, we investigated the role of DNA ploidy in tumor heterogeneity and clonal evolution. METHODS: Three radical prostatectomy specimens with intratumoral heterogeneity based on nuclear features on H&E were selected...
December 26, 2023: Cancer reports
#28
JOURNAL ARTICLE
Natalia M Roshardt Prieto, Patrick Turko, Caroline Zellweger, Thi Dan Linh Nguyen-Kim, Ramon Staeger, Elisa Bellini, Mitchell P Levesque, Reinhard Dummer, Egle Ramelyte
Metastatic uveal melanoma (mUM) is a rare type of melanoma with poor outcomes. The first systemic treatment to significantly prolong overall survival (OS) in patients with mUM was tebentafusp, a bispecific protein that can redirect T-cells to gp-100 positive cells. However, the objective response rate according to Response Evaluation Criteria in Solid Tumors (RECIST) may underestimate the clinical impact of tebentafusp. As metabolic response assessed by PET Response Criteria in Solid Tumors (PERCIST) has been reported to better correlate with clinical outcome, we here compared the patterns of radiological and morphological responses in HLA-A*02:01-positive patients with mUM treated with tebentafusp...
December 19, 2023: Melanoma Research
#29
JOURNAL ARTICLE
Hea Sun Joh, Brooke Dolabella, Emmanuel Early, John Stelling, Gabriella Ak, Madan Kumar Upadhyaya, Aninda Rahman, Pem Chuki, William R MacWright, Pascale Ondoa, Satyajit Sarkar, Catrin Moore, Marianne Holm, Toby Leslie, Raphaël M Zellweger, Giyoung Paing, Soo Young Kwon, Florian Marks, Nimesh Poudyal
In response to the global threat of antimicrobial resistance (AMR), the Capturing Data on Antimicrobial Resistance Patterns and Trends in Use in Regions of Asia (CAPTURA) project worked with microbiology laboratories, pharmacies, and local governments in South Asia and Southeast Asia to expand the volume of historical and current data available on AMR and antimicrobial use and to identify gaps in data and areas for quality improvement. When the CAPTURA project completed its country-level engagement in the first half of 2022, the consortium brought together local, regional, and global AMR stakeholders for a virtual regional workshop to review data outputs from the project and share strategies to inform national and regional efforts to combat AMR...
December 20, 2023: Clinical Infectious Diseases
#30
JOURNAL ARTICLE
Jagadeesh Menon, Naresh Shanmugam, Mukul Vij, Ashwin Rammohan, Mohamed Rela
Zellweger syndrome or cerebrohepatorenal syndrome is a rare, multisystem disorder occurring due to defect in metabolic pathway within the peroxisomes. Cirrhosis with portal hypertension is an important presentation of these patients. Given its progressive, multisystem nature, the role of liver transplantation (LT) in Zellweger syndrome remains undefined and controversial. An 11-y-old boy diagnosed with Zellweger syndrome presented to the authors with decompensated cirrhosis along with bilateral proptosis...
December 20, 2023: Indian Journal of Pediatrics
#31
JOURNAL ARTICLE
Florian M Schenk, Till Zellweger, Dhananjeya Kumaar, Darijan Bošković, Simon Wintersteller, Pavlo Solokha, Serena De Negri, Alexandros Emboras, Vanessa Wood, Maksym Yarema
Phase-change memory (PCM) is an emerging memory technology based on the resistance contrast between the crystalline and amorphous states of a material. Further development and realization of PCM as a mainstream memory technology rely on innovative materials and inexpensive fabrication methods. Here, we propose a generalizable and scalable solution-processing approach to synthesize phase-change telluride inks in order to meet demands for high-throughput material screening, increased energy efficiency, and advanced device architectures...
December 20, 2023: ACS Nano
#32
JOURNAL ARTICLE
Simon M Frey, Adam Bakula, Andrew Tsirkin, Vasily Vasilchenko, Peter Ruff, Caroline Oehri, Melissa Fee Amrein, Gabrielle Huré, Klara Rumora, Ibrahim Schäfer, Federico Caobelli, Philip Haaf, Christian E Mueller, Bjoern Andrew Remppis, Hans-Peter Brunner-La Rocca, Michael J Zellweger
BACKGROUND: Patients are referred to functional coronary artery disease (CAD) testing based on their pre-test probability (PTP) to search for myocardial ischemia. The recommended prediction tools incorporate three variables (symptoms, age, sex) and are easy to use, but have a limited diagnostic accuracy. Hence, a substantial proportion of non-invasive functional tests reveal no myocardial ischemia, leading to unnecessary radiation exposure and costs. Therefore, preselection of patients before ischemia testing needs to be improved using a more predictive and personalised approach...
December 2023: EPMA Journal
#33
JOURNAL ARTICLE
Fatma Abdi, Marina Green Buzhor, Nadia Zellweger, Zhi-Luo, Jean-Christophe Leroux
Microbiome-based therapies hold great promise for treating various diseases, but the efficient delivery of live bacteria to the colon remains a challenge. Furthermore, current oral formulations, such as lyophilized bacterial capsules or tablets, are produced using processes that can decrease bacterial viability. Consequently, high dosages are required to achieve efficacy. Herein, we report the design of pressure-sensitive colonic capsules for the encapsulation and delivery of aqueous suspensions of live bacteria...
November 29, 2023: Journal of Controlled Release
#34
JOURNAL ARTICLE
Nikolaus B Wagner, Max M Lenders, Kathrin Kühl, Lydia Reinhardt, Milena Fuchß, Natalie Ring, Ramon Stäger, Caroline Zellweger, Chiara Ebel, Susanne Kimeswenger, Angela Oellinger, Teresa Amaral, Andrea Forschner, Ulrike Leiter, Bernhard Klumpp, Wolfram Hoetzenecker, Patrick Terheyden, Joanna Mangana, Carmen Loquai, Antonio Cozzio, Claus Garbe, Friedegund Meier, Thomas K Eigentler, Lukas Flatz
BACKGROUND: Targeted therapy (TT) of BRAF V600 mutated unresectable melanoma with inhibitors of the MAPK pathway achieves response rates of up to 76%, but most patients develop secondary resistance. Albeit TT is strikingly efficacious during the first days of treatment, even in advanced cases, long-term survival is highly unlikely, especially in patients with unfavorable baseline characteristics like elevated lactate dehydrogenase (LDH). In patients treated with anti-PD-1 immune checkpoint inhibitors, elevated baseline metastatic growth rate (MGR) was the most important prognostic factor...
November 21, 2023: European Journal of Cancer
#35
JOURNAL ARTICLE
Tamara Somborac, Güleycan Lutfullahoglu Bal, Kaneez Fatima, Helena Vihinen, Anja Paatero, Eija Jokitalo, Ville O Paavilainen, Svetlana Konovalova
Peroxisomes are membrane-enclosed organelles with important roles in fatty acid breakdown, bile acid synthesis and biosynthesis of sterols and ether lipids. Defects in peroxisomes result in severe genetic diseases, such as Zellweger syndrome and neonatal adrenoleukodystrophy. However, many aspects of peroxisomal biogenesis are not well understood. Here we investigated delivery of tail-anchored (TA) proteins to peroxisomes in mammalian cells. Using glycosylation assays we showed that peroxisomal TA proteins do not enter the endoplasmic reticulum (ER) in both wild type (WT) and peroxisome-lacking cells...
2023: PloS One
#36
JOURNAL ARTICLE
Julia Prinzi, Marzia Pasquali, Judith A Hobert, Rachel Palmquist, Kristen N Wong, Stephanie Francis, Irene De Biase
Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA). ALD manifests in both sexes with a spectrum of phenotypes, but approximately 35% of affected males develop childhood cerebral adrenoleukodystrophy (CCALD), which is lethal without hematopoietic stem cell transplant performed before symptoms start. Hence, ALD was added to the Recommended Uniform Screening Panel after the successful implementation in New York State (2013-2016)...
November 2, 2023: International Journal of Neonatal Screening
#37
JOURNAL ARTICLE
Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J A Wanders, Alberto Burlina
BACKGROUND: Zellweger spectrum disorders (ZSD) and X-linked adrenoleukodystrophy (X-ALD) are inherited metabolic diseases characterized by dysfunction of peroxisomes, that are essential for lipid metabolism and redox balance. Oxidative stress has been reported to have a significant role in the pathogenesis of neurodegenerative diseases such as peroxisomal disorders, but little is known on the intracellular activation of Mitogen-activated protein kinases (MAPKs). Strictly related to oxidative stress, a correct autophagic machinery is essential to eliminated oxidized proteins and damaged organelles...
November 16, 2023: Orphanet Journal of Rare Diseases
#38
JOURNAL ARTICLE
Ling Su, Min-Zhi Peng, Xiao-Dan Chen, Shuang Wu, Li Liu
BACKGROUND: Peroxisome biogenesis disorders (PBDs) are caused by variants in PEX genes that impair peroxisome function. Zellweger spectrum disorders (ZSDs) are the most severe and common subtype of PBDs, affecting multiple organ systems due to peroxisomal involvement in various metabolic functions. PEX13 gene variants are rare causes of ZSDs, with only 21 cases reported worldwide and none in China. METHODS: We describe an infant with biochemically and molecularly confirmed ZSDs due to variants in the PEX13 gene, identified by whole exome sequencing and validated by Sanger sequencing...
November 14, 2023: Molecular Genetics & Genomic Medicine
#39
JOURNAL ARTICLE
Lea Kleinsorge, Zahra Pasha, Maria Boesing, Nebal Abu Hussein, Pierre O Bridevaux, Prashant N Chhajed, Thomas Geiser, Ladina Joos Zellweger, Malcolm Kohler, Sabrina Maier, David Miedinger, Michael Tamm, Robert Thurnheer, Christophe Von Garnier, Joerg D Leuppi
BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a widespread chronic disease characterised by irreversible airway obstruction [1]. Features of clinical practice and healthcare systems for COPD patients can vary widely, even within similar healthcare structures. The Global Initiative for Chronic Obstructive Lung Disease (GOLD) strategy is considered the most reliable guidance for the management of COPD and aims to provide treating physicians with appropriate insight into the disease...
November 4, 2023: Swiss Medical Weekly
#40
JOURNAL ARTICLE
Nathalie Gasser, Nora Fritschi, Jean-Marie Egger, Nicole Ritz, Otto D Schoch, Jean-Pierre Zellweger
BACKGROUND: Children exposed to a tuberculosis (TB) index case are at risk of TB infection and disease. OBJECTIVES: The aim of this study was to describe the proportion of child contacts who developed TB infection or disease after exposure and to assess the diagnostic pathways and adherence to current guidelines. METHODS: Retrospective observational study including children ≤16 years of age who had contact to a TB index case between January 2019 and July 2021...
October 27, 2023: Respiration; International Review of Thoracic Diseases
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
