Results 141 to 150 of about 713,120 (303)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Foregut cystic developmental malformation: New taxonomy and classification - Unifying embryopathological concepts

Indian Journal of Pathology and Microbiology, 2009
Foregut cystic developmental malformations are rare developmental anomalies. The problems inherent to these malformations are their presentation across specialties that include embryology, anatomy, pathology, thoracic foregut surgery, pediatric surgery ...
Sharma Sharad, Nezakatgoo Nosratollah, Sreenivasan Prithvi, Vanatta Jason, Jabbour Nicolas   +4 more
doaj  

Dimethyl Fumarate, But Not Rituximab, Reduces Serum GFAP Levels and PIRMA in Relapsing–Remitting MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) levels are believed to reflect mainly acute and chronic disease processes in multiple sclerosis (MS), respectively. In this study, we investigated whether dimethyl fumarate (DMF) and rituximab (RTX) differentially affect these biomarkers.
F. Shawket, J. Lycke, J. Salzer, F. Piehl, K. Fink, N. Lange, J. Mellergård, C. Malmeström, P. Sundström, I. Erngren, A. al‐Grety, E. Freyhult, K. Kultima, J. Burman, A. Svenningsson   +14 more
wiley   +1 more source

CAR T‐Cell Therapy in Neurology: A Scoping Review of Neuro‐Oncology, Autoimmune Diseases & Neurotoxicity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chimeric antigen receptor (CAR) T‐cell therapy has been investigated in neurological diseases, encompassing both central nervous system malignancies and autoimmune disorders, thereby extending its application beyond hematological cancers.
Omar Alqaisi, Mohammed Dibas, Patricia Tai, Ala Dibas, Osama Souied, Suhair Al‐Ghabeesh   +5 more
wiley   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

Arthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo, Robert Fox, Katherine M. Hammitt, Julie Frantsve‐Hawley, Matthew C. Baker, Stamatina Danielides, Eduardo De Sousa, Brent P. Goodman, Jennifer K. King, Steven Mandel, Ghaith Noaiseh, Pantelis P. Pavlakis, George Sarka, R. Hal Scofield, Arun Varadhachary, Daniel J. Wallace, Matt Makara, Nancy Carteron, Steven Carsons, in collaboration with the Consensus Expert Panel (CEP) members, G. Alden Adkins, Brittany Adler, Hossein Ansari, Senada Arabelovic, Alan Baer, Denis Balaban, Shamik Bhattacharyya, Evelyn Bromet, Krishna Chaganti, Kamal Chemali, Melissa Cortez, Schartess Culpepper, Paul Dellaripa, Dana Direnzo, Daniel El Bogdadi, Robert Fearon, Mehrnez Fischbach, Judi Furlong, Christopher Gibbons, Rachael Gordon, Thomas Grader Beck, Syed Haider, Larry Hollenbeck, Chadwick R. Johr, Stuart S. Kassan, Brian King, Octavia Kincaid, Eugene Kissin, Vasileios Kyttaris, Lindsay Lally, Brandon M. Law, Janet Lewis, Scott M. Lieberman, Amanda Lusa, Joseph Lutt, Rashmi Maganti, Arthur M. Mandelin, Sara McCoy, Kerry Neall, Timothy Niewold, Anne Louise Oaklander, Ruben A. Peredo‐Wende, Lynn Petruzzi, Mark A. Porter, Guada Respicio Duque, Tania Reyna, Nathaniel M. Robbins, Elliot D. Rosenstein, Laura Rosow, Breanna Ruthrauff, Amit Sachdev, Nora Sandorfi, Sarah Schafer, Elena Schiopu, Chokkalingam Siva, Daniel Small, Sara M. Stern, Lauren Stiles, Susan Stoddard, Jinny Tavee, Donald Thomas, Edward L. Treadwell, Nagagopal Venna, Steven Vernino, Frederick B. Vivino, Brittany Weber, Sepideh Yadollahi, Huiying Yu, Scott Zashin   +88 more
wiley   +1 more source

Appendiceal duplication with Amyand's hernia: a case report. [PDF]

J Surg Case Rep
Ripe DC, Cuellar JS, Buitrago Lozano G, Alfonso MM.   +3 more
europepmc   +1 more source

Temporal Trends and Short‐ and Long‐Term Mortality of People With Acute Myocardial Infarction and Rheumatoid Arthritis: A Nationwide Cohort Study

Arthritis Care &Research, EarlyView.
Objective We investigated whether a diagnosis of rheumatoid arthritis (RA) affects the quality of inpatient acute myocardial infarction (AMI) care and long‐term mortality post‐AMI. Methods We analyzed data from 784,091 adults, 6,047 with a diagnosis of RA, from England and Wales hospitalized with AMI between 2005 and 2019 from the Myocardial Ischaemia ...
Megan Butler, Nicholas Weight, Muhammad Rashid, Rodrigo Bagur, Purvi Parwani, Samantha Hider, Edward Roddy, Robert Butler, Mamas A. Mamas   +8 more
wiley   +1 more source

Dynamics of Expression Variability Contribute to Retention of Small-Scale vs. Whole-Genome Duplicates. [PDF]

Genome Biol Evol
Cai H, Des Marais DL.
europepmc   +1 more source

Retractions in Rheumatology: Trends, Causes, and Implications for Research Integrity

Arthritis Care &Research, EarlyView.
Objective We aimed to describe the trends and main reasons for study retraction in rheumatology literature. Methods We reviewed the Retraction Watch database to identify retracted articles in rheumatology. We recorded the main study characteristics, authors’ countries, reasons for retraction, time from publication to retraction, and trends over time ...
Anna Maria Vettori, Michele Iudici
wiley   +1 more source

The molecular landscape of the C1498 murine acute myeloid leukemia cell line. [PDF]

Biomark Res
Ghetti M, De Santis I, Tolomeo D, Ruggieri F, Bracci C, Bochicchio MT, Paganelli M, Ferrari A, Sangaletti S, Storlazzi CT, Simonetti G.   +10 more
europepmc   +1 more source