Results 111 to 120 of about 1,552,194 (255)

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

Identifying patients with shoulder impingement syndrome who improve with scapular training: a clinical prediction study

Physiotherapy Quarterly
Introduction There is a preponderance of evidence that scapular training improves scapular muscle performance and decreases the clinical symptoms related to subacromial impingement syndrome (SAIS).
Ahmed M. El Melhat, Hager Tarek Khater Mohamed, Enas Fawzy Youssef, Ahmed Mahmoud Gad, Dina Mohamed Ali Al Hamaky   +4 more
doaj   +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

GRIA3: proposal for a neuroimmune role linking infection, stress, chronic disorders and the activity of kynurenic acid

Frontiers in Cellular Neuroscience
Glutamate receptors in the CNS sensitive to the analog AMPA regulate neuronal excitability and synaptic plasticity. AMPA receptors are usually hetero-tetramers and the human GRIA3 gene and GluA3 protein product have been implicated in various CNS ...
Trevor W. Stone, Felix I. L. Clanchy, Richard O. Williams   +2 more
doaj   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Effects of metformin phonophoresis and exercise therapy on pain, range of motion, and physical function in chronic knee osteoarthritis: randomized clinical trial

Journal of Orthopaedic Surgery and Research
Background Knee osteoarthritis (KOA) is a common musculoskeletal disorder. Therapeutic ultrasound (US) is a safe and effective treatment for KOA. It relieves knee pain and enhances function.
Marwah Salih Abed, Marihan Zakaria Aziz, Nabil Mohie AbdelHamid, Elsadat Saad Soliman   +3 more
doaj   +1 more source

The Effectiveness of Ozone Infiltration on Patient-Reported Outcomes in Low Back Pain: A Systematic Review and Meta-Analysis

Life
Background/Objective: The objective of this systematic review and meta-analysis was to evaluate the current evidence on the relative efficacy of ozone injections for improving patient-reported outcomes (PROMs).
Rafael Llombart-Blanco, Gonzalo Mariscal, Violeta Cordón, Carlos Barrios, María Benlloch, Rafael Llombart-Ais   +5 more
doaj   +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

Comparative effectiveness of water-based versus land-based rehabilitation in COPD: a systematic review and network meta-analysis of randomized controlled trials

npj Primary Care Respiratory Medicine
Chronic obstructive pulmonary disease (COPD) is a leading cause of morbidity and mortality. Pulmonary rehabilitation (PR) is central to COPD management; however, individuals with musculoskeletal limitations, obesity, or reduced tolerance to land-based ...
Eleuterio A. Sánchez Romero, Ada Jacqueline Zubercová, Amélie Gran, Raphael Martins de Abreu, Francisco Xavier de Araujo, Pierluigi Sinatti, Juan Nicolás Cuenca-Zaldívar, Rob Sillevis, Camilo Corbellini   +8 more
doaj   +1 more source