A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources.

Objectives: Spinal muscular atrophy (SMA) is a leading genetic cause of infant death and represents a significant burden of care. An improved understanding of the epidemiology of SMA in Canada may help inform strategies to improve the standard of care for individuals living with SMA.

Methods: We employed a multisource approach to estimate the minimal incidence and prevalence of 5q SMA and to gain greater insight into recent clinical practices and treatment trends for the Canadian SMA population.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Pathogenic variants in ATP-dependent chromatin remodeling proteins are a recurrent cause of neurodevelopmental disorders (NDDs). The NURF complex consists of BPTF and either the SNF2H () or SNF2L () ISWI-chromatin remodeling enzyme. Pathogenic variants in and were previously implicated in NDDs.

Assessment of routine same-day discharge surgery for robot-assisted radical prostatectomy.

Introduction: It is important for robotic surgery to be cost-effective, especially by reducing the length of stay (LOS). Therefore, we developed a protocol for day-case robot-assisted radical prostatectomy (RARP). This study aimed to validate this as a safe practice of care and to assess the potential benefits to the hospital and patient.

Self-removal of catheter after robot-assisted radical prostatectomy: a feasibility study.

Self-removal of urinary catheter as an option after robot-assisted radical prostatectomy (RARP) has never been explored in literature. We report the feasibility and outcome of the first study of this novel concept in our hospital. We conducted a prospective audit of self-TWOC (trial without catheter) in men who underwent consecutive RARP in our centre between April 2022 and September 2022.

Social network interventions in the space of topological relationships between communities.

A social network intervention is a process of intentionally altering a social network to achieve an objective. The objective in question may concern accelerating behaviour change or improving organisational performance. In this work we propose a novel model of social network interventions which considers topological properties of relationships existing between communities.

A new eruption of bullous pemphigoid following mRNA COVID-19 vaccination.

The rapid development and implementation of COVID-19 vaccines throughout the global population has given rise to unique, rare, adverse skin reactions. This case report describes an elderly man with new-onset bullous pemphigoid following the second dose of the Pfizer-BioNTech (mRNA) COVID-19 vaccine.

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in .

The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure a diagnostic odyssey or remain undiagnosed. Defining the molecular etiology can bring insights into the responsible molecular pathways and eventually the identification of therapeutic targets.

Maintained Bone Density in Young Hypoestrogenized Women with a High BMI: Case Series.

Estrogen deficiency and obesity are factors that affect bone mass in a manner that is independent and in opposing directions. Obesity favours higher bone mass and increased bone formation whereas estrogen deficiency leads to significant bone loss in leaner individuals. To report the impact of the competing effects of a hypoestrogenized state and obesity on long-term bone health, we present two cases of young chronically hypoestrogenized females whose bone parameters were assessed with high-resolution peripheral quantitative computed tomography (HR-pQCT) and revealed a bone mineral density and microstructure that did not change despite the long history of a low estrogen state.

Comparing the effectiveness of twine- and binder-seeding in the Laminariales species and .

The continuing expansion of seaweed cultivation could assist in ensuring future global food security. The Laminariales species and are each cultivated for food across their European ranges. The predominant method for cultivating European kelps involves growing juveniles on twine within a hatchery which is then deployed at a farm site.

Orthopedic Implant Hypersensitivity Reactions: Concepts and Controversies.

Orthopedic implant hypersensitivity reactions (IHRs) are known to occur but are uncommon. Clinical presentations include local and generalized cutaneous reactions and noncutaneous complications. Pathogenesis traditionally was believed a type IV delayed hypersensitivity reaction, but there is evidence that innate immunity plays a role.

Techniques of disinformation: Constructing and communicating "soft facts" after terrorism.

Informed by social media data collected following four terror attacks in the UK in 2017, this article delineates a series of "techniques of disinformation" used by different actors to try and influence how the events were publicly defined and understood. By studying the causes and consequences of misleading information following terror attacks, the article contributes empirically to the neglected topic of social reactions to terrorism. It also advances scholarship on the workings of disinforming communications, by focusing on a domain other than political elections, which has been the empirical focus for most studies of disinformation to date.

Validating a novel index (SWAT-Bp) to predict mortality risk of community-acquired pneumonia in Malawi.

Background: Community-acquired pneumonia is a major cause of mortality worldwide. Early assessment and initiation of management improves outcomes. In higher-income countries, scores assist in predicting mortality from pneumonia.

How I Work Smarter: A Qualitative Analysis of Emergency Physicians' Strategies for Clinical and Non-clinical Productivity.

Introduction Emergency physicians' (EP) clinical and professional non-clinical environments can be stressful and lead to burnout. However, some EPs thrive in these environments. To date, there is limited research investigating the strategies that successful EPs use to be maximally productive.

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.

THOC6 encodes a subunit of the THO complex that is part of a highly conserved transcription and export complex known to have roles in mRNA processing and export. Few homozygous or compound heterozygous variants have been identified in the THOC6 gene in patients with a syndromic form of intellectual disability [Beaulieu-Boycott-Innes syndrome (BBIS); MIM: 613680]. Here we report two additional individuals affected with BBIS originating from the north of Europe and sharing a haplotype composed of three very rare missense changes in the THOC6 gene-Trp100Arg, Val234Leu, Gly275Asp.

Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.

Primary ubiquinone (co-enzyme Q) deficiency results in a wide range of clinical features due to mitochondrial dysfunction. Here, we analyse and characterize two mutations in the ubiquinone biosynthetic gene COQ7. One mutation from the only previously identified patient (V141E), and one (L111P) from a 6-year-old girl who presents with spasticity and bilateral sensorineural hearing loss.

Cost Effectiveness of First-Line Oral Therapies for Pulmonary Arterial Hypertension: A Modelling Study.

Background: In recent years, a significant number of costly oral therapies have become available for the treatment of pulmonary arterial hypertension (PAH). Funding decisions for these therapies requires weighing up their effectiveness and costs.

Objective: The aim of this study was to assess the cost effectiveness of monotherapy with oral PAH-specific therapies versus supportive care as initial therapy for patients with functional class (FC) II and III PAH in Canada.

Dimpled elastic sheets: a new class of non-porous negative Poisson's ratio materials.

In this study, we report a novel periodic material with negative Poisson's ratio (also called auxetic materials) fabricated by denting spherical dimples in an elastic flat sheet. While previously reported auxetic materials are either porous or comprise at least two phases, the material proposed here is non-porous and made of a homogeneous elastic sheet. Importantly, the auxetic behavior is induced by a novel mechanism which exploits the out-of-plane deformation of the spherical dimples.

Infestation of grain fields and degree-day phenology of the cereal leaf beetle (Coleoptera: Chrysomelidae) in Utah: long-term patterns.

Scouting at key times in the seasonal development of insect pest populations, as guided by degree-day accumulation, is important for minimizing unwarranted insecticide application. Fields of small grains in northern Utah were censused weekly from 2001 to 2011, to assess infestation by the cereal leaf beetle, Oulema melanopus (L.) (Coleoptera: Chrysomelidae), and develop degree-day guidelines for measuring cereal leaf beetle abundance at peak egg and larval densities in any given year.