Results 161 to 170 of about 7,236,039 (281)

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Effect of sagittal alignment on patient outcomes following total knee replacement: A systematic review and correlation analysis. [PDF]

J Exp Orthop
Kumar PR, Sumra DK, Carnell AS, Kumar RV, Said U, Selim A, Farhan-Alanie MM, Parsons H, Metcalfe A.   +8 more
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Patient-reported outcomes and component rotation in total knee replacement: a prospective, observational study in 498 patients. [PDF]

BMJ Open
van Jonbergen HP, Gelderman S, Landman E, Jutte P, Kleinlugtenbelt Y.   +4 more
europepmc   +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

Neuromuscular Characteristics Associated with Knee Instability in Osteoarthritis and After Total Knee Replacement: A Systematic Review and Meta-Analysis. [PDF]

Clin Pract
Lallès AP, Cedin L, Wimmer MA.
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

Is There a Body Mass Index Threshold for Patients Undergoing Primary Total Knee Replacement-A Literature Review. [PDF]

J Clin Med
Kamran M, Abumarzouq M, Mahapatra A.
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

Patient-reported outcomes following participation in a preoperative peer support programme for total knee replacement: A prospective observational cohort study. [PDF]

J Exp Orthop
Middleton F, Phillips JRA.
europepmc   +1 more source