Results 121 to 130 of about 272,956 (310)

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

Pediatric Climbers Experience More Upper Extremity Injuries, Geriatric Climbers More Lower Extremity Injuries, and Increased Shoulder Trauma Associated With Male Individuals in an Emergency Department Analysis of Rock Climbing–Associated Musculoskeletal Injuries

Arthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To analyze epidemiologic trends, injury prevalence, and mechanisms of injury associated with rock climbing. Methods The National Electronic Injury Surveillance System, a public emergency department database, was queried for rock climbing–related injuries from 2014 to 2023. Data extracted included demographics, anatomic region injured, diagnosis,
Titan Z. Alexio, Philip M. Lee, Nathan N. Kim, Keinan B. Agonias, Kyle K. Obana, Andrew J. Luzzi, Jennifer M. Weiss   +6 more
wiley   +1 more source

Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency

Arthritis &Rheumatology, EarlyView.
Objective This study aimed to investigate the mechanisms of immune dysregulation in a pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency. Methods Peripheral immune cells from a patient with IKZF1 haploinsufficiency, patients with lupus with no currently known genetic mutations, and healthy controls were analyzed using single‐cell
Qi Zheng, Yejun Tan, Zhaoling Wang, Yanjie Qian, Qian Ma, Danping Shen, Meiping Lu   +6 more
wiley   +1 more source

Nationwide Temporal Trends in Adverse Pregnancy Outcomes and Treatments in Systemic Lupus Erythematosus Pregnancy Over Two Decades in Sweden

Arthritis &Rheumatology, EarlyView.
Objective This nationwide descriptive study examined temporal trends in adverse pregnancy outcomes (APOs) and treatments in systemic lupus erythematosus (SLE) pregnancies in Sweden over 2003 to 2022. Methods Using nationwide Swedish registers, we identified 1,417 pregnancies of women with prevalent SLE and delivery dates in 2003 to 2022 and matched ...
Ngoc V. Nguyen, Anna Sandström, Annica Dominicus, Elisabet Svenungsson, Karin Hellgren, Julia F. Simard, Elizabeth V. Arkema   +6 more
wiley   +1 more source

Growing Pains for the Los Angeles Healthy Kids Program: Findings From the Second Evaluation Case Study (Apr 2008) [PDF]

, 2008
Evaluates the program to provide health coverage to poor children ineligible for Medi-Cal or Healthy Families in terms of outreach, enrollment, and retention; benefits, service delivery, and access; financing and stability; and program ...
Brigette Courtot, Eriko Wada, Ian Hill, Patricia Barreto   +3 more
core  

Efficacy and Safety of Subcutaneous Anifrolumab in Systemic Lupus Erythematosus: A Randomized, Phase 3 Study

Arthritis &Rheumatology, EarlyView.
Objective The multinational, phase 3, double‐blind, placebo‐controlled TULIP‐SC trial evaluated the efficacy and safety of subcutaneous anifrolumab in adults who have moderate to severe systemic lupus erythematosus (SLE) activity, despite receiving standard therapy. Methods Adults with SLE received subcutaneous anifrolumab 120 mg or placebo once weekly
Susan Manzi, Ian N. Bruce, Eric F. Morand, Richard Furie, Yoshiya Tanaka, Kenneth C. Kalunian, Anca Askanase, Patricia Puzio, Emon Khan, Jenny Wissmar, Michael Song, Catharina Lindholm, for the TULIP‐SC investigators   +12 more
wiley   +1 more source

Language Barriers in Health Care Settings: An Annotated Bibliography of Research Literature [PDF]

, 2003
Provides an overview of resources related to the prevalence, role, and effects of language barriers and access in health ...
Adam Piotrowski, Alice Hm Chen, Elizabeth A. Jacobs, Eric J. Hardt, Niels Agger-Gupta   +4 more
core  

From concept to community of practice in anatomical ethics and professionalism: 5 years of the “Bioethics Unicorns” education initiative

Anatomical Sciences Education, EarlyView.
Abstract The topics of ethics and professionalism in anatomy have only recently gained prominence within the discipline, reflecting trends in medical and health professions education and an increasing awareness of societal expectations around the use of the dead.
Jon Cornwall, Sabine Hildebrandt, Thomas Champney   +2 more
wiley   +1 more source