Gut microbiota (GM) affects muscle homeostasis, and growing evidence indicates dysbiosis of GM may be a contributing factor in the pathogenesis of dystrophies. Furthermore, GM metabolites can interact with DNA methylation. Facioscapulohumeral muscular dystrophy (FSHD) is the second common dystrophy with hypomethylation of DR1 and 5P regions of D4Z4 repeat on 4qter.

Considering alteration of GM may be a contributing factor, we investigated (i) GM alterations and (ii) the correlation of microbial-derived free fatty acids (FFAs) with methylation of DR1 and 5P regions in FSHD.

Twenty-eight FSHD patients and 28 gender-age-matched controls were included. GM characterisation was performed through 16S-rRNA sequencing. Methylation levels of DR1 and 5P regions were assessed by bisulphite sequencing. Faecal and circulating FFAs including short-chain fatty acids (SCFAs), medium-chain fatty acids (MCFAs) and long-chain fatty acids (LCFAs) were analysed with gas chromatography-mass spectrometry.

Altered GM was observed in patients, along with distinct profiles of faecal and circulating SCFAs, MCFAs and LCFAs. DR1 and 5P regions exhibited significant hypomethylation in FSHD compared to control. Hypomethylation correlated with faecal and circulating FFAs in patients, while no correlation was identified in healthy controls. The severely affected patients exhibited a notable increase in the prevalence of Pasteurellaceae, while the FFA profile was similar among mild and severely affected patients. This is the first study revealing that FSHD patients showed compositional and functional GM dysbiosis. A strong association between proximal D4Z4 hypomethylation with microbial-derived SCFAs was identified.

These findings suggest that GM modulation with its metabolites could be a promising strategy for interventions in FSHD management.

Since cannabis was legalized in Canada in 2018, its use among older adults has increased. Although cannabis may exacerbate cognitive impairment, there are few studies on its use among older adults being evaluated for cognitive disorders.

We analyzed data from 238 patients who attended a cognitive clinic between 2019 and 2023 and provided data on cannabis use. Health professionals collected information using a standardized case report form.

Cannabis use was reported by 23 out of 238 patients (9.7%): 12 took cannabis for recreation, 8 for medicinal purposes and 3 for both purposes. Compared to non-users, cannabis users were younger (mean ± SD 62.0 ± 7.5 vs 68.9 ± 9.5 years; p = 0.001), more likely to have a mood disorder (p < 0.05) and be current or former cigarette smokers (p < 0.05). There were no significant differences in sex, race or education. The proportion with dementia compared with pre-dementia cognitive states did not differ significantly in users compared with non-users. Cognitive test scores were similar in users compared with non-users (Montreal Cognitive Assessment: 20.4 ± 5.0 vs 20.7 ± 4.5, p = 0.81; Folstein Mini-Mental Status Exam: 24.5 ± 5.1 vs 26.0 ± 3.6, p = 0.25). The prevalence of insomnia, obstructive sleep apnea, anxiety disorders, alcohol use or psychotic disorders did not differ significantly.

The prevalence of cannabis use among patients with cognitive concerns in this study was similar to the general Canadian population aged 65 and older. Further research is necessary to investigate patients’ motivations for use and explore the relationship between cannabis use and mood disorders and cognitive decline.

Although carotid endarterectomy (CEA) or carotid artery stenting (CAS) is recommended for symptomatic extracranial carotid stenosis of 50–99%, the COVID-19 pandemic significantly impacted resources. CAS therefore offered potential advantages as access to the angiosuite was seemingly easier than access to operating rooms. The primary objective was to determine the frequency of serious and non-serious complications following CAS before and during the COVID-19 pandemic.

We performed a retrospective cohort study of consecutive patients who received CAS at the Ottawa Hospital, Canada, from June 2019 to May 2021. We reviewed baseline demographics, imaging, as well as intraprocedural and postprocedural complications based on chart review. We performed multivariable logistic regression to determine associations between clinical and safety outcomes.

We included 47 patients in the pre-pandemic period and 93 patients in the pandemic period (mean age = 70.4 years; 54% female; P = 0.287 for age and P = 0.962 for sex, respectively). The combined rate of intraprocedural and postprocedural serious complications (ischemic stroke, intracerebral hemorrhage, myocardial infarction or death) was 7.1%. Eight strokes occurred, and one patient with a postprocedural ischemic stroke died 11 days after stenting. Complication rates were similar before and during the pandemic (aOR 1.040, 95% CI 0.466–2.321). The number of referrals for CEA during the pandemic period decreased by 50%.

In this cohort of consecutive patients undergoing CAS at a Canadian comprehensive stroke center before and during the COVID-19 pandemic, the rates of stroke and death were similar to pre-pandemic conditions and were generally consistent with the published literature.

Epilepsy is a relatively common condition that affects approximately 4–5 per 1000 individuals in Ontario, Canada. While genetic testing is now prevalent in diagnostic and therapeutic care plans, optimal test selection and interpretation of results in a patient-specific context can be inconsistent and provider dependent.

The first of its kind, the Ontario Epilepsy Genetic Testing Program (OEGTP) was launched in 2020 to develop clinical testing criteria, curate gene content, standardize the technical testing criteria through a centralized testing laboratory, assess diagnostic yield and clinical utility and increase genetics literacy among providers.

Here we present the results of the first two years of the program, demonstrating the overall 20.8% diagnostic yield including pathogenic sequence and copy number variation detected by next-generation sequencing panels. Routine follow-up testing of family members enabled the resolution of ambiguous findings. Post-test outcomes were collected as reported by the ordering clinicians, highlighting the clinical benefits of genetic testing.

This programmatic approach to genetic testing in epilepsy by OEGTP, together with engagement of clinical and laboratory stakeholders, provided a unique opportunity to gather insight into province-wide implementation of a genetic testing program.

Up-to-date certification of the National Institutes of Health Stroke Scale (NIHSS) and modified Rankin Scale (mRS) is often required for clinical trials, representing a significant burden on clinical investigators globally.

This systematic review sought to determine if NIHSS or mRS training, re-training, certification or recertification led to improvements in the reliability or accuracy of ratings as well as other relevant user metrics (e.g., user confidence).

Among 4227 studies, 100 passed screening and were assessed for eligibility with full-text review; 23 met inclusion criteria. Among these 23 studies, 22 examined NIHSS training and/or certification, and only a single study included examined the effect of training on mRS performance. Ten of 23 included studies were conference abstracts. The study designs, interventions and outcome measurement of the included studies were heterogeneous. In the case of the NIHSS, two studies found increased accuracy after NIHSS training, and a third study showed statistically significant though clinically trivial decreases in error rate with training. The remaining 19 studies showed no benefit of NIHSS training as it relates to reliability or accuracy outcomes. The single included mRS study did not show the benefit of training.

Although data are sparse with heterogeneous training protocols and outcomes, there is no compelling evidence to suggest benefit of healthcare professionals completing NIHSS or mRS training, certification or recertification. At the very least, recertification/re-training requirements should be reconsidered pending the provision of robust evidence.

Stroke due to basilar artery occlusion (BAO) carries poor outcomes despite advancements in endovascular therapy (EVT). Predictors of recovery remain underexplored. This study evaluates clinical and imaging predictors of outcomes following EVT, including a Critical Area Diffusion Score (CADS), assessing infarct location and extent in critical brainstem regions on post-EVT MRI.

This retrospective study analyzed 48 BAO patients treated with EVT at a provincial stroke center (2015–2021). Patients were categorized by outcomes (favorable: modified Rankin Scale [mRS] 0–3; unfavorable: mRS 4–6). Clinical, demographic and imaging data – age, baseline National Institutes of Health Stroke Scale (NIHSS), reperfusion success (thrombolysis in cerebral infarction [TICI] 2b–3) and post-EVT CADS from diffusion-weighted MRI – were assessed using univariate and multivariate logistic regression.

Patients with favorable outcomes were younger (median 64.0 vs. 73.0 years, p = 0.031), had lower NIHSS scores at presentation (median 8 vs. 16, p = 0.018) and achieved higher successful reperfusion rates (81.0% vs. 48.1%, p = 0.020). CADS ≤ 3 was linked to better outcomes (median mRS 3 vs. 5, p = 0.026) and higher odds of recovery in univariate analysis (OR = 10.89, p = 0.038). However, in multivariate analysis, CADS was not an independent predictor, with successful reperfusion (OR = 18.8, p = 0.044) as the strongest factor.

Age, NIHSS scores and successful reperfusion predict recovery in BAO patients undergoing EVT. Although CADS ≤ 3 is linked to favorable outcomes, it is not independently predictive. CADS holds promise as a prognostic tool, but its utility should be considered alongside clinical markers to enhance outcome prediction in BAO.

Cortical excitability has been proposed as a novel neurophysiological marker of neurodegeneration in Alzheimer’s dementia (AD). However, the link between cortical excitability and structural changes in AD is not well understood.

To assess the relationship between cortical excitability and motor cortex thickness in AD.

In 62 participants with AD (38 females, mean ± SD age = 74.6 ± 8.0) and 47 healthy control (HC) individuals (26 females, mean ± SD age = 71.0 ± 7.9), transcranial magnetic stimulation resting motor threshold (rMT) was determined, and T1-weighted MRI scans were obtained. Skull-to-cortex distance was obtained manually for each participant using MNI coordinates of the motor cortex (x = −40, y = −20, z = 52).

The mean skull-to-cortex distances did not differ significantly between participants with AD (22.9 ± 4.3 mm) and HC (21.7 ± 4.3 mm). Participants with AD had lower motor cortex thickness than healthy individuals (t(92) = −4.4, p = <0.001) and lower rMT (i.e., higher excitability) than HC (t(107) = −2.0, p = 0.045). In the combined sample, rMT was correlated positively with motor cortex thickness (r = 0.2, df = 92, p = 0.036); however, this association did not remain significant after controlling for age, sex and diagnosis.

Patients with AD have decreased cortical thickness in the motor cortex and higher motor cortex excitability. This suggests that cortical excitability may be a marker of neurodegeneration in AD.