Results 121 to 130 of about 1,651,819 (299)

An Interpretable, Data‐Driven, Hierarchical Multi‐Domain Fusion Framework for Classification and Motor Function Scoring in Chronic Ankle Instability

Advanced Science, EarlyView.
An AI‐enabled digital twin framework integrates wearable EMG sensing with hierarchical multi‐domain fusion to classify chronic ankle instability, distinguish clinically relevant subtypes, and generate continuous motor function scores. Clinically interpretable functional stratification and SHAP‐based biomarker analysis provide transparent decision ...
Tianle Jie, Datao Xu, Zhifeng Zhou, Bas Van Hooren, Huiyu Zhou, Yi Yuan, Xiangli Gao, Monèm Jemni, Liangliang Xiang, Meizi Wang, Justin Fernandez, Tibor J. Goda, Yaodong Gu   +12 more
wiley   +1 more source

Ergonomics and organization of remote work – health aspect and recommendations for home office organization

Medycyna Pracy
Analyses of the economic activity of the Polish population indicate that in 2023, about 7% of all employees performed, usually or sometimes, their work in the form of remote work.
Magdalena Janc, Ewa Lipiec, Zbigniew Jóźwiak, Kinga Polańska, Teresa Makowiec-Dąbrowska   +4 more
doaj   +1 more source

Persistent Zn2+ Influx‐Mediated Deacetylation of ANXA2 Regulates the “Zn2+‐Autophagic Flux” and Alleviates Intervertebral Disc Degeneration

Advanced Science, EarlyView.
Zinc transporter SLC39A14 sustains intracellular Zn2+ levels to activate SIRT3‑dependent ANXA2 deacetylation at K302. This modification weakens ANXA2‑mTOR binding and releases autophagic‑flux suppression in nucleus pulposus cells. Dysregulated Zn2+ homeostasis disrupts this axis to drive intervertebral disc degeneration.
Yuxin Jin, Yongcheng Chen, Yihao Xie, Dongyang Hu, Longhui Gong, Zhihua Chen, Linjie Chen, Minhao Gao, Qizhu Chen, Morgan Jones, Hui Wang, Xiuling You, Kenny Yat Hong Kwan, Shoutao Weng, Taidong Lyu, Xiang Chen, Yuxiao Zhu, Yusheng Wang, Bin Li, Xiangyang Wang, Xiaofeng Jia, Kailiang Zhou, Ouqiang Wu, Aimin Wu   +23 more
wiley   +1 more source

Prevalence of Text Neck Syndrome and it's adverse effects : A cross sectional study on undergraduate medical students

Student's Journal of Health Research Africa
Background: Text Neck Syndrome (TNS) is a condition associated with prolonged smartphone usage and poor posture, leading to various musculoskeletal symptoms.
Lodugu Reshma Shireesha, Sharmila Nalli , Yavvari Raghu Srinivas, Hanumanthu Ravi Kumar   +3 more
doaj   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Results from the survey of musculoskeletal symptoms.

, 2013
Results from the survey of musculoskeletal symptoms.
Boluo Liang (440061), Zhenzhen Cao (440063), Longfei Liu (440065), Xiongbing Zu (440064), Lin Qi (128224), Long Wang (95893), Jinrui Yang (440062)   +6 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source