Results 141 to 150 of about 43,008 (246)

Screening for brain‐related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener

Developmental Medicine &Child Neurology, EarlyView.
The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda, Pien M. M. Weerkamp, Anna Kolesnik, Chloe Geagan, Daniela Chieffo, Mariana Suárez‐Bagnasco, David Skuse, Elizabeth Vroom, Erik H. Niks, John Vissing, Isabelle Desguerre, Volker Straub, Francesco Muntoni, Eugenio Mercuri, Jos G. M. Hendriksen, on behalf of BIND Consortium, Nathalie Angeard, Dimitrios Athanasiou, Suzie‐Ann Bakker, Nathalie Boddaert, Ellie Drummond, Chloe Durrlemann, Fernanda Fortunato, Luis Miguel García‐Moreno, Mattia Gervasi, Rosanne Govaart, Irina Guliaeva, Catherine Hankinson, Leslie Hemar, Rebecca Hendel, Hermien Kan, Leevi Kerkela, Gregory Landon, Monika Malinova, William Mandy, Federica Moriconi, Monia Pellizzari, Sarah Poncet, Elvina Sakellariou, Sergiu Siminiuc, Anna Würgler Slipsager, Lily Smythe, Pietro Spitali, Mads Peter Godtfeldt Stemmerik, Asmus Vogel, Jeanne Wolstencroft, Camilla Zanetti   +46 more
wiley   +1 more source

Hypoxia and hypercapnia elicit overlapping but distinct skeletal muscle toxicities

The Journal of Physiology, EarlyView.
Abstract figure legend Hypoxia and hypercapnia cause overlapping skeletal muscle phenotypes, including atrophy, change in myofibre metabolic profile and myogenic response to injury. Both signals operate via distinct cellular pathways. Abstract Skeletal muscle dysfunction is strongly associated with elevated mortality in acute and chronic pulmonary ...
Joseph Balnis, Ariel Jaitovich
wiley   +1 more source

NSAID ingestion augments training‐induced muscle hypertrophy and differentially affects muscle mRNA expression, but not strength gains, in trained men

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic outlining the impact of NSAID ingestion on resistance exercise training‐induced changes in muscle morphology, function and gene networks relative to placebo ingestion in trained males. Abstract Non‐steroidal anti‐inflammatory drugs (NSAIDs) are widely overused in sports.
Joanne E. Mallinson, Tariq Taylor, Dumitru Constantin‐Teodosiu, Despina Constantin, Martino V. Franchi, Dorothee Auer, Paul L. Greenhaff   +6 more
wiley   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 4, Page 257-269, June 2026.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Clinical features and genetic analysis of tuberous sclerosis pedigrees

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Objective In order to understand tuberous sclerosis complex better, the clinical manifestation, imaging characteristics, and genetic characteristics of tuberous sclerosis complex from 3 pedigrees were investigated.
Ya⁃qin LI, Ji⁃qing CAO, Juan YANG, Bao⁃feng ZHANG, Shan⁃wei FENG, Yan⁃yun WANG, Yao ZHANG, Fei CHEN, Jie KONG, Min⁃ying ZHENG, Xu ZHANG, Cheng ZHANG   +11 more
doaj  

The Dual Role of Autophagy in Cancer: Mechanisms and Therapeutic Strategies

MedComm – Oncology, Volume 5, Issue 2, June 2026.
Autophagy is a conserved cellular process degrading dysfunctional organelles and protein aggregates to maintain cell homeostasis, and it exhibits context‐dependent duality in cancer. Autophagy functions as a critical tumor‐suppressive mechanism by preventing DNA damage and mutation during tumor initiation.
Xiang‐Zheng Gao, Yuheng Qin, Haoyu Wan, Guang Lu, Han‐Ming Shen   +4 more
wiley   +1 more source

Double‐chambered left ventricle in a pediatric patient with tuberous sclerosis complex: A case report

Pediatric Investigation, EarlyView.
Haoxuan Li, Yufei Xie, Qun Wu, Xiaomin Duan, Fangyun Wang, Xin Zhang, Jing Wang   +6 more
wiley   +1 more source

Oxidative Stress in the Tumor Immune Microenvironment: Mechanisms and Therapeutic Perspectives

MedComm – Oncology, Volume 5, Issue 2, June 2026.
Oxidative stress is involved in several key processes in cancer, including redox regulation, DNA damage, post‐translational modifications, transcriptional regulation, epigenetic modifications, metabolic reprogramming, cell death, and immune modulation. These mechanisms collectively influence tumor progression, immune evasion, and therapeutic responses,
Zhen Wang, Bowen Li, Pan Tang, Fanchen Yan, Shuxin Wang, Guiying Leng, Panduo Dawa, Yuansi Chen, Yihan Guo, Pan Yang, Yi Li, Siyu Liu, Erdan Dong, Siyuan Qin, Zhoufeng Wang   +14 more
wiley   +1 more source

Targeting EZH2 in Cancer: From Molecular Mechanisms to Clinical Translation

MedComm – Oncology, Volume 5, Issue 2, June 2026.
The abnormal overexpression or gain‐of‐function mutations of EZH2 play a significant role in cancer occurrence and progression, highlighting the importance and potential of EZH2 as a cancer biomarker. Therefore, screening for effective and safe small‐molecule inhibitors, degraders, and natural compounds targeting EZH2 through preclinical cancer models ...
Xi Zhong, Jieni Li, Mingxuan Pan, Xiaoxue Ke, Hongjuan Cui   +4 more
wiley   +1 more source

PAX8‐positive conventional urothelial carcinomas of the urinary bladder and their distinct molecular profiles – A clinicopathologic study of 101 consecutive cases with next‐generation sequencing in 20 cases

Histopathology, Volume 88, Issue 7, Page 1315-1323, June 2026.
PAX8 expression in urothelial carcinoma was investigated in 101 consecutive transurethral resections of the urinary bladder. PAX8 was positive in 10% of cases, with targeted molecular testing of these cases revealing universal TERT promoter mutations and frequent alterations in TSC1, NOTCH1 and WT1. Aims PAX8 immunohistochemistry (IHC) is often used to
Sarah Mae Lammert, Wendy Luo, Allen C Zhu, Peng Wang, Tatjana Antic, Jung Woo Kwon   +5 more
wiley   +1 more source