Results 31 to 40 of about 138 (115)

The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases

Arthritis Care &Research, EarlyView.
Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci, Megan R. W. Barber, Ann E. Clarke, Sindhu R. Johnson, Anselm Mak, Hermine I. Brunner, Murat Inanc, Rosalind Ramsey‐Goldman, Guillermo Ruiz‐Irastorza, Ellen M. Ginzler, John G. Hanly, Alexandra Legge, Cynthia Aranow, Laurent Arnaud, Nathalie Costedoat‐Chalumeau, Dafna D. Gladman, Søren Jacobsen, Michelle Petri, Clovis A. Silva, Évelyne Vinet, Alexandre E. Voskuyl, SDI Revision Literature Review Groups, SDI Revision Delphi Panel, SDI Revision Item Reduction Committee, SDI Revision Clinical Domain Groups, Ian N. Bruce   +25 more
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Foundations for Forecasting: Defining Baseline Seismicity at Fuego Volcano, Guatemala

Frontiers in Earth Science, 2018
Accurate volcanic eruption forecasting is especially challenging at open vent volcanoes with persistent low levels of activity and relatively sparse permanent monitoring networks.
Kyle A. Brill, Gregory P. Waite, Gustavo Chigna   +2 more
doaj   +1 more source

Single‐cell atlas of neuroglial dynamics in SNCA‐A53T Parkinson's disease mouse model

Animal Models and Experimental Medicine, EarlyView.
We performed single‐cell RNA sequencing of midbrain and striatal tissues from SNCA‐A53T Parkinson's disease (PD) mice, revealing glia‐enriched PD‐risk gene signatures and disease‐specific subpopulations. Transcriptional dysregulation of key TFs (e.g., Rorb, Foxc1) and enhanced neuroinflammatory signaling (SEMA, CCL, MIF) were identified.
Binqing Qin, Zichu Fu, Xuanxuan Zou, Senmao Chai, Jingjing Weng, Puqing Wang, Xiaodong Sun, Ming Sang   +7 more
wiley   +1 more source

Anatomy of phreatic eruptions

Earth, Planets and Space, 2018
This study investigates phreatic eruptions at two similar volcanoes, Kawah Ijen (Indonesia) and White Island (New Zealand). By carefully processing broadband seismic signals, we reveal seismic signatures and characteristics of these eruptions.
Corentin Caudron, Benoit Taisne, Jurgen Neuberg, Arthur D. Jolly, Bruce Christenson, Thomas Lecocq, Suparjan, Devy Syahbana, Gede Suantika   +8 more
doaj   +1 more source

Operationalizing Precision Medicine in Drug Development: Predictive Biomarkers, Companion Diagnostics, and Regulatory Pathways

Clinical Pharmacology &Therapeutics, EarlyView.
Precision medicine offers the opportunity to improve the benefit–risk profile of new therapies by prospectively identifying patients most likely to respond or least likely to experience harm; however, its systematic integration into drug development remains inconsistent outside oncology.
Ingrid Holst‐Laubjerg, José M.A. Moreira   +1 more
wiley   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). II. Treatments in more advanced clinical development

Epilepsia, EarlyView.
Abstract This article summarizes data for 13 investigational treatments for which at least preliminary seizure outcome data in patients with epilepsy were reported at the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices held in Madrid, Spain, on May 3–6, 2026.
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

Continuous Accelerometry-Based Tremor Detection During Daily Living

Sensors
As a step towards advancing adaptive DBS control for Parkinson’s disease, we have developed an automated algorithm that detects tremor continuously on a seconds-resolution time scale from a wearable accelerometer and present the feasibility study test ...
Luis Martinez, Orlando Martinez, Stephen L. Schmidt, Rocio Rodriguez Capilla, Hector Gardea, Arabo Gholian, Dennis A. Turner, Deborah Soonmee Won   +7 more
doaj   +1 more source

A prospective natural history study protocol for clinical trial readiness in synaptic disorders

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee, Sarah M. Ruggiero, Kristin Cunningham, JoeyLynn Coyne, Ian McSalley, Michael C. Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M. Orlando, Viveknarayanan Padmanabhan, Alexander K. Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A. Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie McCarthy, Jan H. Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao‐Tuan Chao, Katherine Xiong, Elizabeth Berry‐Kravis, Sepideh Tabarestani, J. Michael Graglia, Kathryn Helde, Virginie McNamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J. Boland, Samuel R. Pierce, Ingo Helbig   +38 more
wiley   +1 more source