Five-year mortality after traumatic central cord syndrome in Wales.

Aims: Traumatic central cord syndrome (CCS) typically follows a hyperextension injury and results in motor impairment affecting the upper limbs more than the lower, with occasional sensory impairment and urinary retention. Current evidence on mortality and long-term outcomes is limited. The primary aim of this study was to assess the five-year mortality of CCS, and to determine any difference in mortality between management groups or age.

An automated, web-based triage tool may optimise referral pathways in elective orthopaedic surgery: A proof-of-concept study.

Introduction: Knee pain is caused by various pathologies, making evaluation in primary-care challenging. Subsequently, an over-reliance on imaging, such as radiographs and MRI exists. Electronic-triage tools represent an innovative solution to this problem.

Dynamics of skeletal muscle-resident stem cells during myogenesis in fibrodysplasia ossificans progressiva.

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease in which extraskeletal (heterotopic) bone forms within tissues such as skeletal muscles, often in response to injury. Mutations in the BMP type I receptor ACVR1/ALK2 cause FOP by increasing BMP pathway signaling. In contrast to the growing understanding of the inappropriate formation of bone tissue within the muscle in FOP, much is still unknown about the regenerative capacity of adult diseased muscles.

p300 or CBP is required for insulin-stimulated glucose uptake in skeletal muscle and adipocytes.

While current thinking posits that insulin signaling to glucose transporter 4 (GLUT4) exocytic translocation and glucose uptake in skeletal muscle and adipocytes is controlled by phosphorylation-based signaling, many proteins in this pathway are acetylated on lysine residues. However, the importance of acetylation and lysine acetyltransferases to insulin-stimulated glucose uptake is incompletely defined. Here, we demonstrate that combined loss of the acetyltransferases E1A binding protein p300 (p300) and cAMP response element binding protein binding protein (CBP) in mouse skeletal muscle caused a complete loss of insulin-stimulated glucose uptake.

Transoral Gunshot Injury Resulting in Mechanical Block to Cervical Rotation: A Case Report.

Case: We report a case of self-inflicted transoral gunshot injury in a 24-year-old man resulting in mechanical block to cervical rotation. Anterior surgical removal of the pellet was successful with the patient experiencing no early or long-term functional deficits.

Conclusion: Given the rarity of a cervical spine injury from gunshot wound without long-term complications, this unique case supports the role of early operative management in such injuries.

Teaching a large-scale crystallography school with Zoom Webinar.

In order to address the loss of crystallographic training opportunities resulting from the cancelation of conventional schools around the world due to the COVID-19 pandemic, we have started an online crystallography school with live lectures and live Q&A using Zoom Webinar. Since we were trying to reach a large audience in a relatively short period, we have limited the school to ten 1 h lectures covering practical aspects of small molecule crystallography including data collection, data processing, and structure solution. In the school, we also covered some advanced topics that students commonly see in their work: absolute structure determination, twinning, and disorder.

Communicating Oncologic Prognosis With Empathy: A Pilot Study of a Novel Communication Guide.

Background: Clear communication between patients, families, and health-care providers is imperative to maximize patient outcomes, particularly for patients diagnosed with incurable cancer who require prompt engagement in decision-making. In response to the need to engage in quality patient-centered communication, an interprofessional team, representing medicine, nursing, social work, spiritual care, and clinical psychology, explored extant literature and developed a simple, single-page communication guide that summarizes the prognosis for patients with incurable cancers. The tool was specifically designed to enhance communication for patients, families, and across all members of the treatment and patient support team.

Fibrodysplasia ossificans progressiva (FOP): A disorder of osteochondrogenesis.

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder of extraskeletal bone formation, but could appropriately be viewed as a seminal disorder of osteochondrogenesis. Many, if not most, of the musculoskeletal features of FOP are related to dysregulated chondrogenesis including abnormal articular cartilage formation, abnormal diarthrodial joint specification, growth plate dysplasia, osteochondroma formation, heterotopic endochondral ossification (HEO), and precocious arthropathy. In FOP, causative activating mutations of Activin receptor A type I (ACVR1), a bone morphogenetic protein (BMP) type I receptor, are responsible for the osteochondrodysplasia that impacts developmental phenotypes as well as postnatal features of this illustrative disorder.

Exploring End-of-Life Care Team Communication: An Interprofessional Simulation Study.

Effective team communication is necessary for the provision of high-quality health care. Yet, recent graduates from diverse health-care disciplines report inadequate training in communication skills and end-of-life care. This study explored the impact of a withdrawal of life-sustaining measures interprofessional simulation on team communication skills of students representing medicine, nursing, and social work.

Elevated BMP and Mechanical Signaling Through YAP1/RhoA Poises FOP Mesenchymal Progenitors for Osteogenesis.

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by the formation of extraskeletal bone, or heterotopic ossification (HO), in soft connective tissues such as skeletal muscle. All familial and sporadic cases with a classic clinical presentation of FOP carry a gain-of-function mutation (R206H; c.617 G > A) in ACVR1, a cell surface receptor that mediates bone morphogenetic protein (BMP) signaling.

ACVR1 FOP mutation alters mechanosensing and tissue stiffness during heterotopic ossification.

An activating bone morphogenetic proteins (BMP) type I receptor ACVR1 (ACVR1) mutation enhances BMP pathway signaling and causes the rare genetic disorder of heterotopic (extraskeletal) bone formation fibrodysplasia ossificans progressiva. Heterotopic ossification frequently occurs following injury as cells aberrantly differentiate during tissue repair. Biomechanical signals from the tissue microenvironment and cellular responses to these physical cues, such as stiffness and rigidity, are important determinants of cell differentiation and are modulated by BMP signaling.

Osterix/Sp7 limits cranial bone initiation sites and is required for formation of sutures.

During growth, individual skull bones overlap at sutures, where osteoblast differentiation and bone deposition occur. Mutations causing skull malformations have revealed some required genes, but many aspects of suture regulation remain poorly understood. We describe a zebrafish mutation in osterix/sp7, which causes a generalized delay in osteoblast maturation.

A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells.

WNT signaling promotes the reprogramming of somatic cells to an induced pluripotent state. We provide genetic evidence that WNT signaling is a requisite step during the induction of pluripotency. Fibroblasts from individuals with focal dermal hypoplasia (FDH), a rare genetic syndrome caused by mutations in the essential WNT processing enzyme PORCN, fail to reprogram with standard methods.