Results 101 to 110 of about 1,000,189 (432)

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

DeepHealthNet: Adolescent Obesity Prediction System Based on a Deep Learning Framework [PDF]

arXiv, 2023
Childhood and adolescent obesity rates are a global concern because obesity is associated with chronic diseases and long-term health risks. Artificial intelligence technology has emerged as a promising solution to accurately predict obesity rates and provide personalized feedback to adolescents.
arxiv  

Perceived emotional intelligence as a predictor of depressive symptoms after a one year follow-up during adolescence [PDF]

, 2016
Research to date has identified various risk factors in the emergence of depressive disorders in adolescence. There are very few studies, however, which have analyzed the role of perceived emotional intelligence in depressive symptoms longitudinally ...
Gomez-Baya, Diego, Mendoza, Ramon, Paino, Susana   +2 more
core   +1 more source

Pubertal maturation and affective symptoms in adolescence and adulthood: evidence from a prospective birth cohort [PDF]

, 2015
The higher prevalence of affective symptoms among women compared to men emerges in adolescence, and it has been associated with pubertal maturation. However, it remains unclear whether pubertal timing has long-term influences on affective symptoms. Using
Darya Gaysina, Diana Kuh, Hayward, Herva, Huerta, Li, Marcus Richards, O'Dea, Palacios, Rebecca Hardy, Silbereisen, Stattin, Talashek, Wing   +13 more
core   +1 more source

Pharmacokinetics, Efficacy, and Safety of Upadacitinib in Pediatric Patients With Polyarticular‐Course Juvenile Idiopathic Arthritis: An Interim Analysis of an Open‐Label, Phase 1 Trial

Arthritis Care &Research, EarlyView.
Objective This work aimed to evaluate the pharmacokinetics, efficacy, and safety of upadacitinib, an oral selective JAK inhibitor, in pediatric patients with polyarticular‐course juvenile idiopathic arthritis (pcJIA). Methods In an open‐label, phase 1 study (SELECT‐YOUTH), enrolled patients, aged 2 to <18 years with pcJIA, received body weight–based ...
Hermine I. Brunner, Anna Shmagel, Gerd Horneff, Ivan Foeldvari, Jordi Antón, Athimalaipet V. Ramanan, Yuli Qian, Kristina Unnebrink, Shuai Hao, Heidi S. Camp, Nasser Khan, Wei Liu, Mohamed‐Eslam F. Mohamed   +12 more
wiley   +1 more source

Health literacy in childhood and youth: a systematic review of definitions and models

BMC Public Health, 2017
Background Children and young people constitute a core target group for health literacy research and practice: during childhood and youth, fundamental cognitive, physical and emotional development processes take place and health-related behaviours and ...
Janine Bröder, Orkan Okan, Ullrich Bauer, Dirk Bruland, Sandra Schlupp, Torsten M. Bollweg, Luis Saboga-Nunes, Emma Bond, Kristine Sørensen, Eva-Maria Bitzer, Susanne Jordan, Olga Domanska, Christiane Firnges, Graça S. Carvalho, Uwe H. Bittlingmayer, Diane Levin-Zamir, Jürgen Pelikan, Diana Sahrai, Albert Lenz, Patricia Wahl, Malcolm Thomas, Fabian Kessl, Paulo Pinheiro   +22 more
doaj   +1 more source

Anorexia nervosa in adolescence from oral health perspective

European Psychiatry, 2023
Introduction Management of patients with anorexia nervosa (AN) desires psychiatric/medical care. In average AN disease onset they represent a younger generation than 18 y.o.
E. Paszynska, A. Hernik, M. Tyszkiewicz-Nwafor, M. Dmitrzak-Weglarz, M. Roszak, A. Slopien   +5 more
doaj   +1 more source

Priority Musculoskeletal Health Research Questions for People With Generalized Joint Hypermobility: An International Delphi Study

Arthritis Care &Research, EarlyView.
Objective This study aimed to identify the top 10 international research priorities for musculoskeletal health of people with generalized joint hypermobility. Methods A three‐round Delphi method using an online survey was implemented. Three participant stakeholder groups were eligible for inclusion: (1) people with lived experience of joint ...
Sara Habibian, Verity Pacey, Cliffton Chan, Alan J. Hakim, Cylie M. Williams   +4 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Health-related quality of life of adolescents living with HIV treated at the HIV Clinic at the National Institute of Pediatrics at Mexico City

European Psychiatry, 2022
Introduction ATR for children has successfully increase survival to adolescence. Health-related quality of life (HRQoL) is relevant to evaluate the impact of the disease on well-being in adolescents living with HIV (ALH).
D.B. Montoya Moya, D. Molina, J. Ordoñez Ortega   +2 more
doaj   +1 more source