Results 91 to 100 of about 1,329,274 (301)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Non-Suicidal Self-Injury and Suicidal Behaviour in Children and Adolescents Accessing Residential or Intensive Home-Based Mental Health Services [PDF]

, 2012
Objective: There is a dearth of Canadian research with clinical samples of youth who self-harm, and no studies could be located on self-harm in children and youth accessing residential or intensive home-based treatment.
Ashbourne, Graham, Cameron, Gary, Carter, Jeff, Csuzdi, Nicklaus, Frensch, Karen, Lazure, Kelly, Penney, Randy, Preyde, Michele, Watkins, Hanna, White, Sara   +9 more
core   +2 more sources

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Sarilumab in Polyarticular‐Course Juvenile Idiopathic Arthritis: Dose‐Finding and 1‐Year Analysis of a Phase 2b, Open‐Label, Multicenter Study

Arthritis Care &Research, EarlyView.
Objective This study assessed sarilumab in treating patients with polyarticular‐course juvenile idiopathic arthritis (pcJIA). Methods This phase 2b, open‐label study (NCT02776735) consisted of three sequential parts (each with a core‐treatment and extension phase).
Fabrizio De Benedetti, Inmaculada C. Penadés, Irina Nikishina, Ivan Foeldvari, Alberto J. Spindler, Anna Kozlova, Nadina Rubio‐Pérez, Pierre Quartier, Zbigniew Żuber, Raul Barria, Daniel Clemente, Gabriel V. Cornejo, Katherine Marzan, Nancy Liu, Christine Xu, Stephen DiMartino, Angeliki Giannelou, Fei Cao‐Ghoul, Bolanle Akinlade, Lydie Baret‐Cormel   +19 more
wiley   +1 more source

The state of physical and mental health of children from the anti-terrorist operation zone

Zdorovʹe Rebenka, 2017
The aim of the study was the assessment of physical and mental health of school-age children from the war zone in the Eastern Ukraine. Materials and methods.
N.M. Korenev, I.S. Lebets, S.R. Tolmachova, V.V. Nikonova, Т.Yu. Proskurina, Т.N. Matkovska   +5 more
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, Thea Senger‐Carpenter, Jocelyn Zuckerman, Michelle Adler, Mallet R. Reid, Ashley Danguecan, Luana Flores Pereira, Sarah I. Mossad, Samantha L. Ely, Khalid Abulaban, Elizabeth A. Kessler, Natalie Rosenwasser, Tamar B. Rubinstein, Ekemini A. Ogbu, Emily A. Smitherman, Alaina Miller, Taylor Abounader, Elizabeth Ross, Livie Timmerman, Dhriti Sharma, Jennifer N. Stinson, Stacy Allen, Kabita Nanda, Tala El Tal, Deborah M. Levy, Linda T. Hiraki, Hermine I. Brunner, Mathew Reeves, Steven J. Pierce, Andrea Knight   +29 more
wiley   +1 more source

TREM2 Downregulation Disrupts Microglial Function and Synaptic Pruning Through RA/RARα Signaling: Mechanisms Underlying Autism‐Like Behaviors

Pediatric Discovery
Autism spectrum disorder (ASD) involves neuroimmune dysregulation and synaptic pruning defects. This study aimed to investigate the role of triggering receptor expressed on myeloid cells 2 (TREM2) in ASD pathogenesis and its link to retinoic acid (RA ...
Min Lu, Kexin Bai, Yali Bai, Yuan Miao, Tingjiao Zhao, Yi Yang, Jie Chen, Ting Yang, Tingyu Li, Hua Wei   +9 more
doaj   +1 more source

Impatience and Uncertainty: Experimental Decisions Predict Adolescents' Field Behavior [PDF]

We study risk attitudes, ambiguity attitudes, and time preferences of 661 children and adolescents, aged ten to eighteen years, in an incentivized experiment. We relate experimental choices to field behavior. Experimental measures of impatience are found
Kocher, Martin G., Rützler, Daniela, Sutter, Matthias, Trautmann, Stefan T.   +3 more
core  

Modifiable factors influencing attention performance in healthy children: insights from a comprehensive school nutrition study

BMC Public Health
Background There is inconclusive evidence for the effects of various leisure activities on attention performance in children. The literature reports inconsistent associations between activities such as physical activities or media use.
Peggy Ober, Tanja Poulain, Christof Meigen, Ulrike Spielau, Carolin Sobek, Wieland Kiess, Ulrike Igel, Tobias Lipek, Mandy Vogel   +8 more
doaj   +1 more source

Specifics of dyadic coping in couples facing vision loss: a qualitative analysis

Cogent Psychology
Objective Vision loss is a widespread and debilitating chronic condition that can be stressful for patients and partners, potentially impairing couples’ psychological functioning.
Katharina Weitkamp, Christina J. Breitenstein, Rhea Sarah Gesù, Guy Bodenmann   +3 more
doaj   +1 more source