Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.

Background And Objectives: Nusinersen has shown significant functional motor benefit in the milder types of spinal muscular atrophy (SMA). Less is known on the respiratory outcomes in patients with nusinersen-treated SMA. The aim of this study was to describe changes in respiratory function in pediatric patients with SMA type 2 and 3 on regular treatment with nusinersen within the iSMAc international cohort and to compare their trajectory with the natural history (NH) data published by the consortium in 2020.

Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.

Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS).

Objective: In this study, we present longitudinal trajectories for the RHS in an international cohort of 149 untreated paediatric SMA 2 and 3 patients (across 531 assessments collected between March 2015 and July 2019).

Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.

Background: Real-world data on the efficacy and safety of onasemnogene abeparvovec (OA) in spinal muscular atrophy (SMA) are needed, especially to overcome uncertainties around its use in older and heavier children. This study evaluated the efficacy and safety of OA in patients with SMA type 1 in the UK, including patients ≥2 years old and weighing ≥13.5 kg.

Heightened OAEs in young adult musicians: Influence of current noise exposure and training recency.

Otoacoustic emissions (OAEs) are a non-invasive metric of cochlear function. Studies of OAEs in musicians have yielded mixed results, ranging from evidence of diminished OAEs in musicians-suggesting noise-induced hearing loss-to no difference when compared to non-musicians, or even a trend for stronger OAEs in musicians. The goal of this study was to use a large sample of college students with normal hearing (n = 160) to compare OAE SNRs in musicians and non-musicians and to explore potential effects of training recency and noise exposure on OAEs in these cohorts.

Safety and efficacy of inhaled interferon-β1a (SNG001) in adults with mild-to-moderate COVID-19: a randomized, controlled, phase II trial.

Background: With the emergence of SARS-CoV-2 variants resistant to monoclonal antibody therapies and limited global access to therapeutics, the evaluation of novel therapeutics to prevent progression to severe COVID-19 remains a critical need.

Methods: Safety, clinical and antiviral efficacy of inhaled interferon-β1a (SNG001) were evaluated in a phase II randomized controlled trial on the ACTIV-2/A5401 platform (ClinicalTrials.govNCT04518410).

Long-term Natural History of Pediatric Dominant and Recessive -Related Myopathy.

Background And Objectives: -related myopathies are the most common congenital myopathies, but long-term natural history data are still scarce. We aim to describe the natural history of dominant and recessive -related myopathies.

Methods: A cross-sectional and longitudinal retrospective data analysis of pediatric cases with -related myopathies seen between 1992-2019 in 2 large UK centers.

A Community-Based Educational Intervention: Increasing Medication Adherence in Rural Older Adults.

Purpose: This study evaluated the effectiveness of a community-based, interdisciplinary, medication education intervention for rural older adults.

Methods: The research design was a quasi-experimental pretest/posttest design. Self-efficacy, adherence to refills and medication, and knowledge were examined.

Modular light sources for microscopy and beyond (ModLight).

Modular light (ModLight) sources can be integrated into complex systems for microscopy, medical imaging, remote sensing, and many more. Motivated by the need for affordable and open-access alternatives that are globally relevant, we have designed and presented light devices that use simple, off-the-shelf components. Red, green, blue, white and near-infrared LEDs are combined using mirrors and X-Cube prisms in novel devices.

CEUS cardiac exam protocols International Contrast Ultrasound Society (ICUS) recommendations.

The present CEUS Cardiac Exam Protocols represent the first effort to promulgate a standard set of protocols for optimal administration of ultrasound enhancing agents (UEAs) in echocardiography, based on more than two decades of experience in the use of UEAs for cardiac imaging. The protocols reflect current clinical CEUS practice in many modern echocardiography laboratories throughout the world. Specific attention is given to preparation and dosing of three UEAs that have been approved by the United States Food and Drug Administration (FDA) and additional regulatory bodies in Europe, the Americas and Asia-Pacific.

Simulated assessment of light transport through ischaemic skin flaps.

Currently, free flaps and pedicled flaps are assessed for reperfusion in postoperative care using colour, capillary refill, temperature, texture, and Doppler signal (if available). While these techniques are effective, they are prone to error due to their qualitative nature. In this research, different wavelengths of light were used to quantify the response of ischaemic tissue.

Outpatient Management of Guideline-Directed Medical Therapy for Heart Failure Using Telehealth: A Comparison of In-Office, Video, and Telephone Visits.

Background: There are limited data regarding the management of guideline-directed medical therapy (GDMT) for heart failure with reduced ejection fraction (HFrEF) with virtual visits in comparison with in-office visits. We sought to compare the changes in GDMT (angiotensin-converting enzyme inhibitors, angiotensin II receptor blockers, angiotensin receptor neprilysin inhibitors, mineralocorticoid receptor antagonists, and sodium glucose cotransporter-2 inhibitors) and loop diuretics across visit types.

Methods And Results: This study included 13,481 outpatient visits performed for 5439 unique patients with HFrEF between March 16, 2020, and March 15, 2021.

Advanced molecular imaging for the characterisation of complex medicines.

A growing number and diversity of complex medicines is in development and reaching the market, with many of these medicines utilising innovative delivery technology to achieve appropriate biodistribution and exposure. Accurate assessment of biodistribution, cell penetration, internalised form, cargo release and efficacy are essential for the development of these medicines. Advanced imaging technologies, deploying different labelling techniques that allow the assessment of both carrier and cargo, are enabling in-depth analysis and providing a mechanistic understanding of each step in the drug delivery pathway.

Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy.

Background: Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full-length Dp427 is the primary dystrophin isoform expressed in muscle and is also expressed in the central nervous system (CNS). Two shorter isoforms, Dp140 and Dp71, are highly expressed in the CNS.

Mechanistic Insights into a CDK9 Inhibitor Via Orthogonal Proteomics Methods.

Cyclin-dependent-kinases (CDKs) are members of the serine/threonine kinase family and are highly regulated by cyclins, a family of regulatory subunits that bind to CDKs. CDK9 represents one of the most studied examples of these transcriptional CDKs. CDK9 forms a heterodimeric complex with its regulatory subunit cyclins T1, T2 and K to form the positive transcription elongation factor b (P-TEFb).

Outpatient Management of Heart Failure During the COVID-19 Pandemic After Adoption of a Telehealth Model.

Objectives: This study sought to determine whether the increased use of telehealth was associated with a difference in outcomes for outpatients with heart failure.

Background: The COVID-19 pandemic led to dramatic changes in the delivery of outpatient care. It is unclear whether increased use of telehealth affected outcomes for outpatients with heart failure.

Mental Health Issues Among Farmers: An Online Continuing Education Program for Nurses.

Background: An asynchronous online continuing education (CE) program was created to increase nurses' awareness and knowledge of occupationally related mental health issues among farmers.

Method: The ADDIE (analysis, design, development, implementation, evaluation) model was followed to create the CE program. Articulate Storyline 3 (Articulate 360), a software tool, was used to build an interactive, e-learning, and virtual training module.