Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study.

Introduction: MODY2 (maturity-onset diabetes of the young type 2, MIM125851) is a monogenic diabetes with an autosomal dominant transmission caused by a variant of the gene. MODY2 is often confused with type 1 or type 2 diabetes, but despite a slightly elevated blood glucose level, it does not induce long-term vascular complications, nor does it require pharmacological treatment. Genetic testing for the diagnosis of MODY2 is currently reserved for genetic specialists and some physicians.

New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target.

Myotonic dystrophy type 1 (DM1) is considered a progeroid disease (i.e., causing premature aging).

People living with chronic pain in Canada face difficult decisions and decisional conflict concerning their care: data from the national DECIDE-PAIN survey.

Background: Shared decision-making is an imperative in chronic pain care. However, we know little about the decision-making process, especially in primary care where most chronic pain care is provided. We sought to understand decisional needs of people living with chronic pain in Canada.

Integration of patient-oriented research principles in health institutions: a scoping review protocol.

Introduction: In 2011, the Canadian Institutes of Health Research launched a Strategy for Patient-Oriented Research (POR) for healthcare and academic institutions to increase patient participation in health research. POR considers patients and caregivers as partners with scientific investigators, healthcare professionals and administrative decision-makers. As POR becomes a standard worldwide, the how-to, practical aspects of POR integration in healthcare institutions remain uncharted territory.

Difference in Drinking Times as a Function of Liquid Consistency in Adults With Oculopharyngeal Muscular Dystrophy: A Comparative Study Using Bostwick Consistometer and IDDSI Flow Test Methods.

The main objective was to document the differences between drinking times and oral perception between liquids in individuals with dysphagia. A second objective was to assess variations in consistency categorization across instruments. A third objective was to explore the relationship between drinking time and dysphagia severity.

Shared decision-making with patients with complex care needs: a scoping review.

Background: A number of patients have complex care needs that arise from interactions among multiple factors, such as multimorbidity, mental health issues, and social vulnerability. These factors influence decisions about healthcare and health services. Shared decision-making (SDM), a collaborative process between patients and professionals, is known to improve the quality of the decision-making process.

Zéro allergie research clinic: a clinical and research initiative in oral immunotherapy for managing IgE-mediated food allergy.

Background And Methods: The Zéro allergie research clinic (Saguenay, Canada) is a clinical and research initiative in oral immunotherapy (OIT) for managing IgE-mediated food allergy (FA). A total of 183 children with FA and 27 non-allergic siblings were recruited to date in the Zéro allergie cohort (ZAC) to better understand biological mechanisms underlying FA and OIT prognosis. The primary aims are to (a) better understand the genetic, epigenetic, transcriptomic, metabolomic, and microbial diversity associated with FA; (b) establish the multi-omics and microbial diversity profiles of children following OIT to identify predictive prognosis biomarkers, (c) make OIT more accessible to the population of the Saguenay-Lac-Saint-Jean region, and (d) build a biobank of data and biological material.

Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX).

Background: With treatment trials on the horizon, this study aimed to identify candidate digital-motor gait outcomes for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), capturable by wearable sensors with multicenter validity, and ideally also ecological validity during free walking outside laboratory settings.

Methods: Cross-sectional multicenter study (four centers), with gait assessments in 36 subjects (18 ARSACS patients; 18 controls) using three body-worn sensors (Opal, APDM) in laboratory settings and free walking in public spaces. Sensor gait measures were analyzed for discriminative validity from controls, and for convergent (ie, clinical and patient relevance) validity by correlations with SPRS (primary outcome) and Scale for the Assessment and Rating of Ataxia (SARA), Spastic Paraplegia Rating Scale (SPRS), and activities of daily living subscore of the Friedreich Ataxia Rating Scale (FARS-ADL) (exploratory outcomes).

Bacterial Biomarkers of the Oropharyngeal and Oral Cavity during SARS-CoV-2 Infection.

(1) Background: Individuals with COVID-19 display different forms of disease severity and the upper respiratory tract microbiome has been suggested to play a crucial role in the development of its symptoms. (2) Methods: The present study analyzed the microbial profiles of the oral cavity and oropharynx of 182 COVID-19 patients compared to 75 unaffected individuals. The samples were obtained from gargle screening samples.

Towards the Identification of Biomarkers for Muscle Function Improvement in Myotonic Dystrophy Type 1.

Background: Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults. In DM1 patients, skeletal muscle is severely impaired, even atrophied and patients experience a progressive decrease in maximum strength. Strength training for these individuals can improve their muscle function and mass, however, the biological processes involved in these improvements remain unknown.

Individual transcriptomic response to strength training for patients with myotonic dystrophy type 1.

Myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy, is caused by a CTG expansion resulting in significant transcriptomic dysregulation that leads to muscle weakness and wasting. While strength training is clinically beneficial in DM1, molecular effects had not been studied. To determine whether training rescued transcriptomic defects, RNA-Seq was performed on vastus lateralis samples from 9 male patients with DM1 before and after a 12-week strength-training program and 6 male controls who did not undergo training.

Decisional needs assessment for patient-centred pain care in Canada: the DECIDE-PAIN study protocol.

Introduction: The 2021 Action Plan for Pain from the Canadian Pain Task Force advocates for patient-centred pain care at all levels of healthcare across provinces. Shared decision-making is the crux of patient-centred care. Implementing the action plan will require innovative shared decision-making interventions, specifically following the disruption of chronic pain care during the COVID-19 pandemic.

Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurologic disorder with generally well-known clinical manifestations. However, few studies assessed their progression rate using a longitudinal design. This study aimed to document the natural history of ARSACS over a 4-year period in terms of upper and lower limb functions, balance, walking capacity, performance in daily living activities, and disease severity.

Molecular Genetic Characteristics of , a Proposed New Ovarian Cancer Predisposing Gene.

was recently identified as a new candidate ovarian cancer (OC)-predisposing gene from the genetic analysis of carriers of c.1813C>T; p.L605F in OC families.

Impact of plantar fasciitis on postural control and walking in young middle-aged adults.

Purpose: To assess if plantar fasciitis has an impact on postural control and walking pattern from gait analysis across different experimental conditions.

Methods: Thirty participants (n = 15 with plantar fasciitis) performed 5 different balance tasks on a force platform, and the center of pressure (COP) was computed for postural control analysis. Participants were also asked to walk at 3 different speeds on a gait analysis system to compute the spatial-temporal parameters.

Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9.

Epidermolysis bullosa simplex (EBS) is a rare mechanobullous disease caused by dominant-negative mutations in either keratin 5 () or keratin 14 () genes. Until now, there is no cure for EBS and the care is primarily palliative. The discovery of the clustered regularly interspaced short palindromic repeat (CRISPR)-Cas9 system raised hope for the treatment of EBS and many other autosomal dominant diseases by mutant allele-specific gene disruption.

Cannabis use in patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset cerebellar ataxia with often presence of peripheral sensorimotor neuropathy and lower limb spasticity. Recently, the presence of pain has been associated with ARSACS in a quarter of the population in relation to spasms and neuropathic pain. However, limited therapeutic options available to patients and the occurrence of persistent symptoms despite treatment with the usual pharmacologic agents have led to exploring cannabis as a potential alternative.