Results 51 to 60 of about 56,492 (266)

Adolescent Medial Patellofemoral Ligament Reconstruction: A Comparison of the Use of Autograft Versus Allograft Hamstring

Orthopaedic Journal of Sports Medicine, 2018
Background: Recurrent patellar instability is commonly treated with medial patellofemoral ligament reconstruction (MPFLR), and the use of allograft in anterior cruciate ligament reconstructions has demonstrated inferior outcomes.
Nikhil Kumar BS, Tracey P. Bastrom MA, M. Morgan Dennis BS, Andrew T. Pennock MD, Eric W. Edmonds MD   +4 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Potential Interaction between WNT16 and Vitamin D on Bone Qualities in Adolescent Idiopathic Scoliosis Patients and Healthy Controls

Biomedicines
Adolescent idiopathic scoliosis (AIS) is a three-dimensional spinal deformity that is associated with low bone mineral density (BMD). Vitamin D (Vit-D) supplementation has been suggested to improve BMD in AIS, and its outcomes may be related to genetic ...
Guangpu (Kenneth) Yang, Huanxiong Chen, Ka-Lo Cheng, Man-Fung Tang, Yujia Wang, Lik-Hang (Alec) Hung, Chun-Yiu (Jack) Cheng, King-Lun (Kingston) Mak, Yuk-Wai (Wayne) Lee   +8 more
doaj   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Full-time bracing versus hybrid bracing in adolescent idiopathic scoliosis: study protocol for a randomised controlled trial

Trials
Background Adolescent idiopathic scoliosis (AIS) is a complex three-dimensional spinal deformity affecting 2–4% of adolescents. During the peripubertal stage, untreated AIS may progress rapidly and lead to adverse outcomes such as back pain and poor body
Adam Yiu Chung Lau, Ho Man Kee, Kenneth Guangpu Yang, Eric Cheuk Kin Kwan, Alec Lik Hang Hung, Wayne Yuk Wai Lee, Man Sang Wong, Jack Chun Yiu Cheng, Tsz Ping Lam   +8 more
doaj   +1 more source

Radiation-Induced Intraspinal Chondrosarcoma: A Case Report

Global Spine Journal, 2015
Study Design Case report and review of the literature. Objective To report a unique case of an intraspinal chondrosarcoma that was diagnosed 18 years after radiotherapy for a cervical carcinoma and its remarkably unusual clinical presentation.
Peter Obid MD, Mathias Vierbuchen, Eduard Wolf, Michael Reichl, Thomas Niemeyer, Hüseyin Übeyli, Alexander Richter   +6 more
doaj   +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

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

Treatment of mature/maturing AIS patients (Sanders ≥ 5) using a novel anterior scoliosis correction (ASC) Technique

Brain and Spine, 2021
Christopher Antonacci, M. Darryl Antonacci, William P. Bassett, Laury A. Cuddihy, Allison R. Haas, Janet L. Cerrone, Dominique S. Haoson, Randal R. Betz   +7 more
doaj   +1 more source