ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.

Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease caused by mutations in the SACS gene. The first two mutations were identified in French Canadian populations 20 years ago. The disease is now known as one of the most frequent recessive ataxias worldwide.

Romantic relationship configurations and their correlates among LGBTQ+ persons: A latent class analysis.

Research comparing monogamous and non-monogamous relationships on well-being indicators across diverse populations have yielded inconsistent findings. The present study investigates sociodemographic characteristics, as well as personal and relational outcomes, across different relationship configurations. Data were drawn from an online community-based sample of 1,528 LGBTQ+ persons aged 18 years and older in Quebec, Canada.

Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disease caused by biallelic variants in the gene encoding for sacsin. More than 200 pathogenic variants have been identified to date, most of which are missense. It is likely that the prevalence of autosomal recessive spastic ataxia of Charlevoix-Saguenay is underestimated due to the lack of an efficient diagnostic tool able to validate variants of uncertain significance.

Deriving the Transdiagnostic Scales From the Personality Assessment Inventory and SPECTRA: Indices of Psychopathology: A Demonstration.

Transdiagnostic models of psychopathology address many of the shortcomings common to categorical diagnostic systems. These empirically derived models conceptualize psychopathology as a few broad interrelated and hierarchically arranged dimensions, with an overarching general psychopathology dimension, the p-factor, at the apex. While transdiagnostic models are gaining prominence in mental health research, the lack of available tools has limited their clinical translation.

Diverse winter communities and biogeochemical cycling potential in the under-ice microbial plankton of a subarctic river-to-sea continuum.

Unlabelled: Winter conditions greatly alter the limnological properties of lotic ecosystems and the availability of nutrients, carbon, and energy resources for microbial processes. However, the composition and metabolic capabilities of winter microbial communities are still largely uncharacterized. Here, we sampled the winter under-ice microbiome of the Great Whale River (Nunavik, Canada) and its discharge plume into Hudson Bay.

Mobile version of the Battery for the Assessment of Auditory Sensorimotor and Timing Abilities (BAASTA): Implementation and adult norms.

Timing and rhythm abilities are complex and multidimensional skills that are highly widespread in the general population. This complexity can be partly captured by the Battery for the Assessment of Auditory Sensorimotor and Timing Abilities (BAASTA). The battery, consisting of four perceptual and five sensorimotor tests (finger-tapping), has been used in healthy adults and in clinical populations (e.

The influence of ligament biomechanics on proximal junctional kyphosis and failure in patients with adult spinal deformity.

Purpose: It is unknown whether the biomechanics of the posterior ligamentous complex (PLC) are impaired in individuals undergoing surgery for adult spinal deformity (ASD). Characterizing these properties may improve our understanding of proximal junctional kyphosis (PJK; defined as proximal junctional angle [PJA] of >10 deg from UIV-1 to UIV + 2), as well as proximal junctional failure (PJF; symptomatic PJK requiring revision). The purpose of this prospective observational study is to compare biomechanical properties of the PLC in individuals with ASD who do, and do not develop PJK or PJF within 1 year of spinal fusion surgery.

High levels of pesticides found in illicit cannabis inflorescence compared to licensed samples in Canadian study using expanded 327 pesticides multiresidue method.

Background: As Cannabis was legalised in Canada for recreational use in 2018 with the implementation of the Cannabis Act, Regulations were put in place to ensure safety and consistency across the cannabis industry. This includes the requirement for licence holders to demonstrate that no unauthorized pesticides are used to treat cannabis or have contaminated it. In this study, we describe an expanded 327 multi-residue pesticide analysis in cannabis inflorescence to confirm if the implementation of the Cannabis Act is providing safer licensed products to Canadians in comparison to those of the illicit market.

Convergence in patient and therapist alliance ratings early in treatment with Personality Assessment Inventory clinical scales and subscales.

We examined discrepancies in 81 patient-therapist dyads' alliance ratings early in treatment (3rd or 4th session) in relation to Personality Assessment Inventory clinical scales, subscales and global psychopathology. Results indicated that PAI global psychopathology (mean clinical elevation) and the scales of Aggression [AGG], Somatization [SOM], and Anxiety-Related Disorders [ARD] were significantly, negatively associated with an absolute difference of patient and therapist alliance ratings at Session 3. Higher initial scores on these clinical scales at treatment onset are associated with less difference (i.

Dating Violence Trajectories in Adolescence: How Do They Relate to Sexual Outcomes in Canada?

Dating violence during adolescence is a major public health issue: it is highly prevalent and extensive research has documented its physical and psychological consequences, yet very little has focused on its sexual consequences. The present study investigated the longitudinal associations between dating violence victimization (psychological, sexual or physical) and sexual well-being (sexual satisfaction and sexual distress) among 1442 sexually active adolescents aged between 14 and 17 years who completed at least one of three data waves (51.1% girls; 45.

Differential Profiles of Sexually Abused Adolescent Boys.

Victims of child sexual abuse (CSA) are a heterogeneous population. Several characteristics may influence the outcomes associated with this adverse childhood experience, including personal (e.g.

The Durability of Intravenous Hydroxocobalamin in Vasoplegia.

Objectives Refractory distributive shock (vasoplegia) has been treated with intravenous (IV) hydroxocobalamin (B12), but its use is poorly characterized. The objective of this study was to quantify the duration of hemodynamic improvement after B12 administration. Materials and methods This was a retrospective chart review of adult patients who received IV B12 while on vasopressors in the intensive care unit.

Using the Personality Assessment Inventory to Assess the Alternative Model for Personality Disorders: Criterion Validity in a Clinical Sample.

The Personality Assessment Inventory (PAI) is a broadband measure of psychopathology that is widely used in applied settings. Researchers developed regression-based estimates that use the PAI to measure constructs of the Alternative Model for Personality Disorders (AMPD) - a hybrid dimensional and categorical approach to conceptualizing personality disorders. Although prior work has linked these estimates to formal measures of the AMPD, there is little work investigating the clinical correlates of this scoring approach of the PAI.

In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease mainly characterized by spasticity in the lower limbs and poor muscle control. The disease is caused by mutations in the gene leading in most cases to a loss of function of the sacsin protein, which is highly expressed in motor neurons and Purkinje cells. To investigate the impact of the mutated sacsin protein in these cells , induced pluripotent stem cell- (iPSC-) derived motor neurons and iPSC-derived Purkinje cells were generated from three ARSACS patients.

Validation of a cage-side agglutination card for Dal blood typing in dogs.

Background: Although 98% of the canine population is Dal-positive, Dal-negative dogs are more common in some breeds such as Doberman Pinschers (42.4%) and Dalmatians (11.7%), and finding compatible blood for these breeds may be challenging, given limited access to Dal blood typing.

Disclosing One's Non-Heterosexual Sexual Orientation at Work in 2020: A Survey of Quebec LGBQ Workers.

Concealing one's non-heterosexual orientation (NHO) remains a protection strategy against workplace discrimination used by many lesbian, gay, bisexual, and queer (LGBQ+) individuals. This article explores four sets of correlates (identity and individual trajectory, social support, professional position, and structural and cultural work context) relative to three levels of outness (total, partial, and null). Online cross-sectional data of 2,106 LGBQ+ participants from Quebec (Canada) showed that 27% reported total outness, while 64% reported partial outness, and 9%, null outness.