Results 211 to 220 of about 491,052 (313)

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

Mental health of caregivers for people with dementia and cerebral palsy as a key determinant of caregiver burden: a multivariable analysis. [PDF]

Front Public Health
Sánchez-Gil A, Calleja-Caballero A, Pérez-Robledo F, Martín-Sánchez C, Rodríguez-Lorenzo M, Martínez-Romo M, Pérez-Saez E, Rodríguez-Muñoz PM, Rivera-Picón C, Perez J, Sánchez-González JL.   +10 more
europepmc   +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

Burden and quality of life among caregivers of children diagnosed with cancer at Kenyatta National Hospital, Kenya: A cross-sectional study. [PDF]

Palliat Care Soc Pract
Machaki DW, Mutisya A, Mutinda J, Oluchina S, Gatimu SM.   +4 more
europepmc   +1 more source

Facilitators and Barriers to Over-the-Counter Hearing Aid Use in People With Dementia: Semistructured Interview Study.

JMIR Hum Factors
Urbanski DP, Hungs AM, Nelson PB, Gaugler JE.   +3 more
europepmc   +1 more source

Opportunities for Digital Health to Support Early Psychosis Care in Ghana: Qualitative Study Among Patients, Caregivers, and Clinicians. [PDF]

JMIR Form Res
Larsen A, Agorinya J, Beaulieu A, Attah DA, Tauscher J, Asafo S, Buck B, Sottie EQ, DeVries E, Okyere AF, Ampaw M, Duah CA, Ofori-Atta A, Obeng K, Ben-Zeev D.   +14 more
europepmc   +1 more source

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

Caregiver quality of life and burden in rare genetic diseases in South Korea. [PDF]

Medicine (Baltimore)
Choi S, Kim JH, Kim GH, Lee BH, Choi IH.
europepmc   +1 more source

Show Me the Brain!!: A modern approach to neuroanatomy education

Anatomical Sciences Education, EarlyView.
Abstract Show Me the Brain!! (SMtB) is a digital system for interactive graphics that is designed to support instruction in neuroanatomy and neuroscience. It will soon be made open‐source and freely available. SMtB bridges medical and traditional neuroanatomy instruction with the computational systems and representational conventions common in ...
Nicholas C. Hindy, Anthony J. Bishara, Ellie Lovellette, John R. Pani   +3 more
wiley   +1 more source

The Impact of Child Emotional and Behavioral Difficulties on Caregivers' Mental Health: Insights from Families of Children Orphaned by HIV in Southern Uganda. [PDF]

Glob Soc Welf
Frempong MRK, Ssentumbwe V, Nabayinda J, Namuwonge F, Kizito S, Nabunya P, Ssewamala F.   +6 more
europepmc   +1 more source