Results 171 to 180 of about 87,812 (309)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Detecting Condylar Lift-Off with a Piezoelectric Smart Knee Replacement. [PDF]

Bioengineering (Basel)
Hines BD, Willing R, Anton SR.
europepmc   +1 more source

Do lifestyle factors affect clinical outcomes following total knee replacement? An integrated qualitative study exploring the perceptions and experiences of participants in the PRO Knee feasibility cohort study.

The development of pre-operative interventions to improve clinical outcomes following total knee replacement surgery has been identified as a research priority.
Moffatt, Maria, Littlewood, Chris, Stephens, Gareth, Liloglou, Triantafyllos   +3 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Patient-reported outcomes after total knee replacement: Questionnaire and functional assessment study. [PDF]

Bioinformation
Nachkunte A, Al-Jaafar M, Dashputra A.
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Post-Total Knee Replacement Persistent Bilateral Popliteal Cysts Requiring Surgical Excision: A Literature-Based Discussion. [PDF]

Case Rep Orthop
Heenkende M, Zhou Y, Stoney JD.
europepmc   +1 more source

Nothing to See Here: Researching Non‐Recent Child Abuse in Schools and the Politics of Silence

Australian Journal of Social Issues, EarlyView.
ABSTRACT While institutions, including schools, have responsibilities to protect children from harm, responses to instances of child sexual abuse have often exhibited avoidance and denial. Recent public inquiries in Australia revealed that some institutions, particularly in the Catholic sector, employed a deliberate strategy of silence which was used ...
John Crowley, Katie Wright, Kate O'Connor   +2 more
wiley   +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

Reducing Sedentary Time After Knee Replacement Using a Multicomponent mHealth Intervention: Randomized Controlled Trial. [PDF]

JMIR Mhealth Uhealth
Pellegrini CA, Kennerley CL, Wilcox S, Lee J, DeVivo K, Horn K, Jamieson S, Hopkins J, Davis HT, Jackson Iii JB.   +9 more
europepmc   +1 more source