Results 61 to 70 of about 730,978 (198)
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Revista Eureka sobre Enseñanza y Divulgación de las Ciencias, 2015 Se describe el desarrollo de una actividad de indagación sobre el sistema astronómico Sol-Tierra articulada alrededor de varios referentes contextuales (objetos, términos de vocabulario, espacios) que el alumno debe manipular e interpretar.
Jordi Domènech Casal
doaj
Laboratório Huni Kuin: Ritual e arte, performance e vídeo, corpo e imagem
Cinema & Território, 2019 Laboratório Huni Kuin é um projeto de pesquisa artístico-etnográfica desenvolvido a partir de um estudo de campo sobre práticas artísticas em rituais do povo indígena Huni Kuin no Acre (Amazónia Ocidental, Brasil). Articula a performance ritual do Outro,
Rui Mourão
doaj +1 more source
Cognitive Behavioral Therapy for Youth With Childhood‐Onset Lupus: A Randomized Clinical Trial
Arthritis Care &Research, EarlyView.Objective Our objective was to determine the feasibility and acceptability of the Treatment and Education Approach for Childhood‐Onset Lupus (TEACH), a six‐session cognitive behavioral intervention addressing depressive, fatigue, and pain symptoms, delivered remotely to individual youth with lupus by a trained interventionist.
Natoshia R. Cunningham +29 more
wiley +1 more source
Revista Eureka sobre Enseñanza y Divulgación de las Ciencias, 2014 En este trabajo se describe una propuesta de actuación para alumnos del programa de Diversificación Curricular, basada en el aprendizaje por proyectos. Dicha propuesta pretende involucrar a los estudiantes en su propio proceso de aprendizaje.
Javier Manso Lorenzo +1 more
doaj
Arthritis Care &Research, EarlyView.Objective To support high‐quality, patient‐centered care for systemic lupus erythematosus (SLE), the American College of Rheumatology (ACR) developed evidence‐based measures incorporating clinical and patient‐reported outcome measures (PROMs). Using the Consolidated Framework for Implementation Research (CFIR), we conducted semistructured interviews ...
Catherine Nasrallah +13 more
wiley +1 more source
Arthritis Care &Research, EarlyView.People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley +1 more source
O vídeo, as ONGs cariocas e a solidariedade como princípio – entrevista com Mauricio Lissovsky
Significação: Revista de Cultura AudiovisualEntrevista feita com Mauricio Lissovsky sobre sua trajetória, ainda jovem, no movimento cineclubista nos anos 1970; Mauricio fala da prática e da produção de vídeo junto às Organizações não governamentais (Ongs) cariocas nos anos 1980 e ...
Andréa França
doaj +1 more source