Results 231 to 240 of about 1,066,775 (304)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Effect of knee flexion on muscle oxygen saturation in adults during a 40-s isometric squat. [PDF]

Physiol Rep
Portilla-Dorado E, Sendra-Perez C, Marzano-Felisatti JM, Aparicio-Aparicio I, Cibrián Ortiz de Anda RM, Priego-Quesada JI.   +5 more
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Long-term outcomes of the cementless Oxford Unicompartmental Knee Replacement: a 16-year follow-up study. [PDF]

Bone Jt Open
Mowbray J, Davies OLI, Frampton C, Maxwell AR, Hooper GJ.   +4 more
europepmc   +1 more source

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

Foot Progression Angle Modulates Three-Dimensional Lower-Limb Biomechanics in Flexible Flatfoot: Kinematic-Kinetic Patterns and Clinical Implications. [PDF]

J Foot Ankle Res
Shen L, Sun D, Fang Y, Lu Z, Li X, Xu Y, Song Y, Zhu C, Cen X, Fekete G, Jemni M, Gu Y.   +11 more
europepmc   +1 more source

Culturally Safe Assistive Technology Provision in Australia: Concept Mapping Perspectives From Aboriginal and Torres Strait Islander People

Australian Journal of Social Issues, EarlyView.
ABSTRACT Disparities in Assistive Technology (AT) access exist for Aboriginal and Torres Strait Islander peoples despite recent policy reforms. This paper brings together First Nations and Western academic ways of being, knowing and doing to deliver an AT practice analysis based upon primary data from two research reports into the cultural safety of AT
Shane Hearn, Vanessa Langenberg, Kristy Harper, Libby Callaway, Hilary O'Connell, Eleanor Kennett‐Smith, Natasha Layton   +6 more
wiley   +1 more source

The impact of high knee walking on knee pain and straight leg raising function after patellar fracture surgery: A retrospective study. [PDF]

Medicine (Baltimore)
Wang J, Zhang X, Li J, Zhang X, Huang P, Zhou J, Tian T, Cai Y, Liu B.   +8 more
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Effect of prehabilitation before total knee replacement on postoperative patient-reported joint awareness, enablement and knee function: protocol for the PROTEKT randomised controlled trial. [PDF]

BMJ Open
Ljung M, Gustafsson K, Kvist J.
europepmc   +1 more source