Results 81 to 90 of about 5,330 (203)

Oral Manifestations of Non Vascular Ehlers‐Danlos Syndrome Cross‐Sectional Study

Oral Diseases, EarlyView.
ABSTRACT Background Ehlers–Danlos syndromes are rare hereditary connective tissue disorders; however, their oral manifestations remain poorly characterized in molecularly confirmed individuals. The aim of this study was to describe the oral phenotype of patients with non‐vascular Ehlers‐Danlos syndromes compared to healthy controls.
Aude Grand, Benjamin P. J. Fournier, Grégoire Chevalier, Karelle Benistan, François Côme Ferré   +4 more
wiley   +1 more source

The GoodHope Exercise and Rehabilitation (GEAR) Program for People With Ehlers-Danlos Syndromes and Generalized Hypermobility Spectrum Disorders

Frontiers in Rehabilitation Sciences, 2021
Introduction: The Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobility Spectrum Disorders (G-HSD) comprise a heterogeneous group of genetic disorders of abnormal synthesis and/or maturation of collagen and other matricellular proteins.
Nimish Mittal, Nimish Mittal, Daniel Santa Mina, Daniel Santa Mina, Daniel Santa Mina, Stephanie Buryk-Iggers, Stephanie Buryk-Iggers, Laura Lopez-Hernandez, Laura Hussey, Alyssa Franzese, Joel Katz, Joel Katz, Joel Katz, Joel Katz, Camille Laflamme, Laura McGillis, Lianne McLean, Maxim Rachinsky, Dmitry Rozenberg, Dmitry Rozenberg, Maxwell Slepian, Aliza Weinrib, Hance Clarke, Hance Clarke, Hance Clarke   +24 more
doaj   +1 more source

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]

, 2019
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila, Celli, Mauro, Corsini, Serena, D'Eufemia, Patrizia, Gnoli, Maria, Maioli, Margherita, Mordenti, Marina, Pedrini, Elena, Sangiorgi, Luca, Tremosini, Morena, Versacci, Paolo, Zambrano, Anna   +11 more
core   +1 more source

Analgesic effects of platelet‐rich fibrin (PRF): A systematic review

Periodontology 2000, EarlyView.
Abstract Background Platelet‐rich fibrin (PRF), a second‐generation autologous platelet concentrate, has gained significant interest for its anti‐inflammatory and regenerative characteristics. While its role in tissue healing is well‐recognized, the analgesic potential of PRF remains under‐investigated.
Nathan E. Estrin, Troy B. Tran, Paras Ahmad, Nima Farshidfar, Georgios E. Romanos, Anton Sculean, Richard J. Miron   +6 more
wiley   +1 more source

The Impact of Pain on Everyday Activities of People With Hypermobility Spectrum Disorders or Hypermobility Ehlers Danlos Syndrome

European Journal of Pain
ABSTRACTBackgroundThis study describes aspects of pain and how pain affects everyday life and examines the relation between chronic pain and activity limitations in people with hypermobility spectrum disorders (HSD) or hypermobility Ehlers Danlos syndrome (hEDS).MethodsThis cross‐sectional study used data from 2016 to 2021 obtained from the Swedish ...
Susanne Lindholm, Suzanne Petersson, Peter Molander, Mathilda Björk   +3 more
openaire   +4 more sources

Generalised joint hypermobility and neurodevelopmental traits in a non-clinical adult population

BJPsych Open, 2017
Background Generalised joint hypermobility (GJH) is reportedly overrepresented among clinical cases of attention deficit/hyperactivity disorder (ADHD ...
Martin Glans, Susanne Bejerot, Mats B. Humble   +2 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review

Biomolecules
Ehlers–Danlos syndromes (EDSs) constitute a heterogeneous group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Asymptomatic EDSs, joint hypermobility without associated syndromes, EDSs,
Raquel Pliego-Arreaga, Juan Antonio Cervantes-Montelongo, Guillermo Antonio Silva-Martínez, Fabiola Estefanía Tristán-Flores, Miguel Angel Pantoja-Hernández, Juan Raúl Maldonado-Coronado   +5 more
doaj   +1 more source

The relationship between strength measures and task performance in specialist police [PDF]

, 2019
Aim: To determine the relationships between strength measures (absolute and relative) and occupational task performance in specialist police officers. Design: A retrospective cohort study. Method: Data were provided for 47 male specialist police officers
Hasanki, Ksaniel, Orr, Rob Marc, Robinson, J, Schram, Ben, Talaber, Kimberly   +4 more
core   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source