Results 71 to 80 of about 414,897 (392)

Single‐cell insights into the role of T cells in B‐cell malignancies

FEBS Letters, EarlyView.
Single‐cell technologies have transformed our understanding of T cell–tumor cell interactions in B‐cell malignancies, revealing new T‐cell subsets, functional states, and immune evasion mechanisms. This Review synthesizes these findings, highlighting the roles of T cells in pathogenesis, progression, and therapy response, and underscoring their ...
Laura Llaó‐Cid
wiley   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Prevalence of diabetes in the USA from the perspective of demographic characteristics, physical indicators and living habits based on NHANES 2009-2018

Frontiers in Endocrinology, 2023
ObjectiveTo determine differences in DM in the U.S. population according to demographic characteristics, physical indicators and living habits.Methods23 546 participants in the 2009 to 2018 National Health and Nutrition Examination Survey (NHANES) who ...
Ling Fang, Huafang Sheng, Yingying Tan, Qi Zhang   +3 more
doaj   +1 more source

A longitudinal study of patients with cirrhosis treated with L-ornithine L-aspartate, examined with magnetization transfer, diffusion-weighted imaging and magnetic resonance spectroscopy [PDF]

, 2016
The presence of overt hepatic encephalopathy (HE) is associated with structural, metabolic and functional changes in the brain discernible by use of a variety of magnetic resonance (MR) techniques.
Bak-Bol, A, Cook, NA, Cox, IJ, Crossey, MM, Dhanjal, N, Fitzpatrick, J, Grover, VP, McPhail, M, Morgan, MY, Saxby, B, Southern, L, Taylor-Robinson, SD, Waldman, A, Williams, R, Wylezinska, M   +14 more
core   +3 more sources

Hepatic Encephalopathy: Definition, Clinical Grading and Diagnostic Principles

Drugs, 2019
In general, hepatic encephalopathy (HE) is defined as a brain dysfunction caused by liver insufficiency and/or portal-systemic blood shunting. This article relates to the so-called type C HE: that is, HE in patients with liver cirrhosis.
K. Weissenborn
semanticscholar   +1 more source

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

Annals of Neurology, 2020
SCN8A encephalopathy is a developmental and epileptic encephalopathy (DEE) caused by de novo gain‐of‐function mutations of sodium channel Nav1.6 that result in neuronal hyperactivity.
Guy M. Lenk, P. Jafar‐nejad, Sophie F. Hill, Lucas D. Huffman, Corrine Smolen, Jacy L. Wagnon, Hayley Petit, Wenxi Yu, Julie Ziobro, K. Bhatia, J. Parent, R. Giger, F. Rigo, M. Meisler   +13 more
semanticscholar   +1 more source

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

Hypertensive encephalopathy. [PDF]

Stroke, 1982
Hypertensive encephalopathy is examined in the context of an acute cerebral episode precipitated by sudden, severe hypertension. Since it is a medical emergency and responds to prompt and vigorous treatment, the author discusses its clinical manifestations, diagnosis, pathology, pathogenesis, and treatment.
openaire   +3 more sources

Moderate hypothermia within 6 h of birth plus inhaled xenon versus moderate hypothermia alone after birth asphyxia (TOBY-Xe): a proof-of-concept, open-label, randomised controlled trial [PDF]

, 2015
Background Moderate cooling after birth asphyxia is associated with substantial reductions in death and disability, but additional therapies might provide further benefit.
Azzopardi, D, Bainbridge, A, Cady, E, Charles-Edwards, G, Deierl, A, Edwards, AD, Fagiolo, G, Franks, NP, Griffiths, J, Hajnal, J, Juszczak, E, Kapetanakis, B, Linsell, L, Maze, M, Omar, O, Robertson, NJ, Strohm, B, Tusor, N   +17 more
core   +2 more sources

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang, Yang‐Yang Wang, Lin‐Yan Hu, Xiu‐Yu Shi, Wen He, Dan Sun, Baoguang Li, Xiaoming Liu, Sanqing Xu, Lijun Du, Chunhui Tang, Li‐Ping Zou   +11 more
wiley   +1 more source