Results 161 to 170 of about 10,619,315 (293)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

What a Near-Perfect AUROC Does Not Show: Random-Panel and Label-Permutation Controls for a Sepsis Blood-Transcriptome Signature. [PDF]

Int J Mol Sci
Kolev M, Naskinova I, Lazarova M, Klisurov V, Kalinov H.   +4 more
europepmc   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Ultrasound radiomics integrated with an immune-related gene signature for predicting response and resistance to immune checkpoint inhibitors in cutaneous melanoma: a retrospective radiogenomic study with biological validation. [PDF]

Front Genet
Peng J, Dai B, Ze K, Yang J.
europepmc   +1 more source

Discordance Between Patient and Physician Global Assessments in Early Systemic Sclerosis

Arthritis Care &Research, EarlyView.
Objective This study aims to identify factors associated with patient global assessment (PtGA) and physician global assessment (PhGA) and discordance between them in systemic sclerosis (SSc). Methods Data from adults with early SSc (<5 years) from the Collaborative National Quality and Efficacy Registry were included.
Ellen Romich, Alexis Ogdie, Alisa Stephens Shields, Peter A. Merkel, Shervin Assassi, Elana J. Bernstein, Andreea Bujor, Flavia V. Castelino, Lorinda Chung, Luke B. Evnin, Tracy M. Frech, Jessica K. Gordon, Melissa Griffith, Faye N. Hant, Monica L. Harding, Laura K. Hummers, Dinesh Khanna, Kimberly S. Lakin, Dorota J. Lebiedz‐Odrobina, Yiming Luo, Ashima Makol, Maureen D. Mayes, Zsuzsanna H. McMahan, Jerry Molitor, Duncan F. Moore, Julie Paik, Carrie Richardson, Brian Skaug, Ami A. Shah, Ankoor Shah, Virginia Steen, John M. VanBuren, Elizabeth R. Volkmann, Carleigh Zahn, Nora Sandorfi, for the CONQUER Investigators   +35 more
wiley   +1 more source

A Return to Normality: A Descriptive Qualitative Interview Study Exploring the Patient Experience of Gout Flare Resolution

Arthritis Care &Research, EarlyView.
Objective Although the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semistructured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart, Anne Horne, Angelo Gaffo, Lisa K. Stamp, N. Lawrence Edwards, Nicola Dalbeth   +5 more
wiley   +1 more source

Real‐World Safety and Effectiveness of JAK Inhibitors in Systemic Sclerosis: A Propensity‐Matched Study From the EUSTAR Cohort

Arthritis Care &Research, EarlyView.
Objective JAK inhibitors (JAKi) have shown promising effects in early‐phase studies of systemic sclerosis (SSc). We aimed to assess the safety and explore the effectiveness of JAKi compared to conventional immunosuppressants in SSc. Methods A longitudinal retrospective study of the European Scleroderma Trials and Research Group (EUSTAR) cohort was ...
Stefano Di Donato, Marie‐Elise Truchetet, Marco Minerba, Oliver Distler, Juan José Alegre Sancho, Yolanda Braun‐Moscovici, Christina Bergmann, Petros Sfikakis, Jeska K. de Vries‐Bouwstra, Murray Baron, Silvia Bellando‐Randone, Lorenzo Dagna, Christopher P. Denton, Madelon C. Vonk, Vanessa Smith, Ivan Castellvi, Gabriela Riemekasten, Andra Balanescu, Masataka Kuwana, Maria De Santis, Kamal Solanki, Anastas Batalov, Vahan Mukuchyan, Marco Matucci‐Cerinic, Yannick Allanore, Francesco Del Galdo, Michael Hughes, EUSTAR Collaborators   +27 more
wiley   +1 more source

Tracing fucosylation and astrocyte-associated pathogenic pattern in major depressive disorder: evidence from machine learning-based multi-omics and clinical validation. [PDF]

Front Neurosci
Kang Y, Sun W, Liu Z.
europepmc   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

Integrative multi-omics profiling and machine learning reveal enhancer RNA signatures for early detection and prognostic stratification in breast cancer. [PDF]

NAR Cancer
Xia J, Tian J, Cao Y, Zhang S, Qian W, Qi Y, Huang H.   +6 more
europepmc   +1 more source