Results 141 to 150 of about 173,493,123 (258)

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

Disentangling the Genetic Relationship Between Sleep and Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le, Victoria E. Jackson, Rachel E. Stirling, Zachary F. Gerring, Remi Stevelink, Samuel F. Berkovic, Ingrid E. Scheffer, Philippa J. Karoly, Melanie Bahlo, Karen L. Oliver   +9 more
wiley   +1 more source

Race and Household Income Are Associated With Disease Outcomes in Pediatric Patients With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis Hospitalized in the United States

Arthritis Care &Research, EarlyView.
Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos, William Daniel Soulsby III, Emily von Scheven   +2 more
wiley   +1 more source

From Adult to Adolescent: Alignment in Clinical Trials and Outcomes in Axial Spondyloarthritis

Arthritis Care &Research, EarlyView.
Spondyloarthritis (SpA) is a group of chronic inflammatory diseases encompassing axial and peripheral forms, with up to 20% of patients developing symptoms before age 16. Despite this substantial pediatric burden, treatment options for juvenile‐onset SpA (JSpA), particularly those with axial disease (axJSpA), remain limited.
Pamela F. Weiss, Judith A. Smith, Robert A. Colbert, Erin Treemarcki, Michael H. Weisman, Walter P. Maksymowych, Hermine I. Brunner, for the Childhood Arthritis and Rheumatology Research Alliance, Spondyloarthritis Research and Treatment Network, and Pediatric Rheumatology Collaborative Study Group Advisory Council   +9 more
wiley   +1 more source

Caregiver Perspectives on the Burden of Disease and Treatment in Uncontrolled Gout

Arthritis Care &Research, EarlyView.
Objective Uncontrolled gout (UG) refers to persistently elevated serum urate (SU) levels >6 mg/dL and ongoing gout symptoms despite use of urate‐lowering therapy (ULT). The objective of this study was to evaluate the burden associated with informal caregiving for individuals with UG.
Angelo Gaffo, Bhavisha Desai, Abiola Oladapo, Nana Kragh, Rebekah Zincavage, Brad Padilla, Naomi Schlesinger   +6 more
wiley   +1 more source

How are agency and autonomy understood in children's palliative and end-of-life care?: A narrative review. [PDF]

Palliat Care Soc Pract
Campbell S, Delaney L, Rovensky N, Kent R, Matthiesen A, Carnevale FA, Macdonald ME.   +6 more
europepmc   +1 more source

The Development of Rheumatoid Arthritis–Specific Ambulatory Care–Sensitive Conditions: Results of a Consensus Process

Arthritis Care &Research, EarlyView.
Objective Ambulatory care–sensitive conditions (ACSCs) serve as indicators of access, quality, and performance of the health system. This study aimed to determine rheumatoid arthritis (RA)‐specific ACSCs for use in the evaluation of care system access and quality.
Kara Irwin, Candace H. Feldman, Claire E. H. Barber, Gabriel Fabreau, Jake Jennings, Scott Patten, Cheryl Barnabe, Inflammatory Arthritis‐Specific ACSC Consensus Process Working Group   +7 more
wiley   +1 more source

Teachers' Perceptions of the PIL-SMART Model: A Semlj Analysis of its Influence on Science and Environmental Literacy in Early Childhood Education. [PDF]

F1000Res
Priyanti N, Apriyansyah C, Andrian T.
europepmc   +1 more source

Validation of Patient‐Reported Outcomes Measurement Information System (PROMIS) Pediatric Measures for Children With Chronic Nonbacterial Osteomyelitis

Arthritis Care &Research, EarlyView.
Objective To assess the validity of the Patient‐Reported Outcomes Measurement Information System (PROMIS) Pediatric measures in patients with chronic nonbacterial osteomyelitis (CNO). Methods Within the longitudinal patient registry of CNO, English‐speaking patients aged 8 years and older self‐reported PROMIS Pediatric measures of fatigue, pain ...
Mary M. Eckert, Eveline Y. Wu, Melissa Oliver, Joshua Scheck, Sivia Lapidus, Ummusen Kaya Akca, Shima Yasin, Aleksander Lenert, Sara Stern, Antonella Insalaco, Manuela Pardeo, Gabriele Simonini, Edoardo Marrani, Xing Wang, Bin Huang, Leonard K. Kovalick, Natalie Rosenwasser, Erin Balay‐Destrude, Gabriel Casselman, Adriel Liau, Ava Klein, Yurong Shao, Claire Yang, Molly Briggs, Ethan Mueller, Emily Deng, Paige Rhiannon Trunnell, Iris Hamilton, Elise Machrone, Doaa Mosad Mosa, Lori Tucker, Hermann Girschick, Ronald M. Laxer, Georgina Tiller, Jonathan Akikusa, Christian M. Hedrich, Karen Onel, Fatma Dedeoglu, Marinka Twilt, Seza Ozen, Polly J. Ferguson, Laura Schanberg, Bryce B. Reeve, Yongdong Zhao   +43 more
wiley   +1 more source

Distinct Microstructural Characteristic Lengths Defining Notch Fatigue Crack Initiation and Propagation, and Defect Tolerance in Advanced Steels

Advanced Engineering Materials, EarlyView.
Schematic representation of modes of microcrack nucleation, growth and temporary arrestment at different boundaries, with the criteria for crack propagation in three scenarios: (1) large notch, (2) defect/small sharp notch, and (3) long crack. This work revisits and integrates results on the fatigue behavior of advanced bainitic steels (in particular ...
Lucia Morales‐Rivas
wiley   +1 more source