Results 81 to 90 of about 163,750 (343)

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

Tubular Micro-Discectomy Under Local Epidural Anaesthesia: A Technical Note [PDF]

Journal of Minimally Invasive Spine Surgery and Technique, 2019
Objective Day-care surgery maximizes utilization of healthcare and aids in early return to work. Minimally invasive spine surgery (MISS) under local epidural anesthesia is a step in this direction.
Arvind Gopalrao Kulkarni, Sagar B. Sharma, Tushar S. Kunder   +2 more
doaj   +1 more source

Postoperative pain management in patients undergoing posterior spinal fusion for adolescent idiopathic scoliosis: a narrative review

Scoliosis and Spinal Disorders, 2018
Posterior spinal fusion for adolescent idiopathic scoliosis is one of the most invasive surgical procedures performed in children and adolescents. Because of the extensive surgical incision and massive tissue trauma, posterior spinal fusion causes severe
Hiroyuki Seki, Satoshi Ideno, Taiga Ishihara, Kota Watanabe, M. Matsumoto, H. Morisaki   +5 more
semanticscholar   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

Polyarticular Septic Arthritis in an Immunocompetent Adult: A Case Report and Review of the Literature

Case Reports in Orthopedics, 2015
Septic arthritis is a clinical emergency requiring prompt diagnosis and treatment to avoid significant morbidity and mortality. Polyarticular septic arthritis (PASA) accounts for 15% of all infectious arthritides and rarely occurs in immunocompetent ...
Annelise Miller, Fahad Abduljabbar, Peter Jarzem   +2 more
doaj   +1 more source

Cost‐utility analysis of nusinersen–risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model

British Journal of Clinical Pharmacology, EarlyView.
Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić, Ivana Stević, Elvira Meni Maria Gkrinia, Dinko Vitezić, Slobodan Janković   +4 more
wiley   +1 more source

Limbus vertebrae of the cervical spine: A case report

Clinical Case Reports, 2022
Limbus vertebra is a common radiological finding in an adult, especially in the mid‐lumbar region. However it is less commonly seen in the mid cervical region.
Eleni Pappa, Ioannis Chatzikomninos
doaj   +1 more source

Measures of Health-Related Quality of Life Outcomes in Pediatric Neurosurgery: Literature Review [PDF]

, 2019
Background Improving value in healthcare means optimizing outcomes and minimizing costs. The emerging pay-for-performance era requires understanding of the effect of healthcare services on health-related quality of life (HRQoL).
Desai, Virendra R., Gadgil, Nisha, Lam, Sandi K., Raskin, Jeffrey S., Saad, Shahbaz   +4 more
core   +1 more source

The evolving therapeutic landscape of spinal muscular atrophy – A scoping review of investigational agents, emerging delivery technologies and strategic innovations

British Journal of Clinical Pharmacology, EarlyView.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić, Patrick Eustaquio, Elvira Meni Maria Gkrinia, Ivana Stević, Eugen Javor, Yun Wah Lam, Slobodan Janković, Dinko Vitezić   +7 more
wiley   +1 more source

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