IntroductionCerebral collateral circulation has a central role in ischemic stroke pathophysiology, and it is considered to correlate with infarct size, the success of reperfusion therapies, and clinical outcomes. Our aim was to study the factors influencing the development of collaterals in patients with acute ischemic stroke eligible for endovascular treatment.Materials and methodsWe enrolled patients with acute ischemic stroke and large vessel occlusion of anterior circulation potentially eligible for endovascular treatment. Included patients performed multiphase CT angiography to assess collaterals that were graded by the Menon Grading Score. We investigated the associations between clinical factors and collaterals and tested independent associations with logistic (good vs. poor collaterals) and ordinal (collateral grade grouped, Menon 0–2, 3, 4–5) regression analysis adjusting for age, sex, stroke severity, and onset to CT time (OCTT).ResultsWe included 520 patients, the mean age was 75 (±13.6) years, 215 (41%) were men, and the median (IQR) NIHSS was 17 (11–22). Good collaterals were present in 323 (62%) patients and were associated with lower NIHSS (median 16 vs. 18; p < 0.001) and left hemisphere involvement (60% vs. 45%; p < 0.001), whereas previous stroke/TIA was more frequent in patients with poor collaterals (17 vs. 26%; p = 0.014). These results were confirmed in both logistic and ordinal regression analyses where good collaterals were associated with lower NIHSS (OR = 0.94; 95% CI = 0.91–0.96; cOR = 0.95; 95% CI = 0.92–0.97, respectively) and left hemisphere stroke (OR = 2.24; 95% CI = 1.52–3.28; cOR = 2.11; 95% CI = 1.46–3.05, respectively), while previous stroke/TIA was associated with poor collaterals (OR = 0.57; 95% CI = 0.36–0.90; cOR = 0.61; 95% CI = 0.40–0.94, respectively). Vascular risk factors, demographics, and pre-stroke treatments did not influence the collateral score.DiscussionThe results of our study suggest that risk factors and demographics do not influence the development of collateral circles, except for a negative relation with previous ischemic events. We confirm an already reported observation of a possible protective effect of collaterals on tissue damage assuming NIHSS as its surrogate. The association between left hemispheric stroke and better collaterals deserves to be further explored. Further efforts are needed to identify the factors that favor the development of collaterals.

Objective: To define the prevalence of variants in collagen VI genes through a next-generation sequencing (NGS) approach in undiagnosed patients with suspected neuromuscular disease and to propose a diagnostic flowchart to assess the real pathogenicity of those variants. Methods: In the past five years, we have collected clinical and molecular information on 512 patients with neuromuscular symptoms referred to our center. To pinpoint variants in COLVI genes and corroborate their real pathogenicity, we sketched a multistep flowchart, taking into consideration the bioinformatic weight of the gene variants, their correlation with clinical manifestations and possible effects on protein stability and expression. Results: In Step I, we identified variants in COLVI-related genes in 48 patients, of which three were homozygous variants (Group 1). Then, we sorted variants according to their CADD score, clinical data and complementary studies (such as muscle and skin biopsy, study of expression of COLVI on fibroblast or muscle and muscle magnetic resonance). We finally assessed how potentially pathogenic variants (two biallelic and 12 monoallelic) destabilize COL6A1-A2-A3 subunits. Overall, 15 out of 512 patients were prioritized according to this pipeline. In seven of them, we confirmed reduced or absent immunocytochemical expression of collagen VI in cultured skin fibroblasts or in muscle tissue. Conclusions: In a real-world diagnostic scenario applied to heterogeneous neuromuscular conditions, a multistep integration of clinical and molecular data allowed the identification of about 3% of those patients harboring pathogenetic collagen VI variants.

Background and purpose: The aim was to evaluate the risk of relapse after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination, and its safety and tolerability, in patients with chronic inflammatory neuropathies. Methods:In this multicenter, cohort and case-crossover study, the risk of relapse associated with SARS-CoV-2 vaccination was assessed by comparing the frequency of relapse in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN) patients who underwent or did not undergo vaccination. Frequency of relapse in the 3 months prior to and after vaccination, and safety and tolerability of SARS-CoV-2 vaccination, were also assessed.Results: In all, 336 patients were included (278 CIDP, 58 MMN). Three hundred and seven (91%) patients underwent SARS-CoV-2 vaccination. Twenty-nine patients (9%) did not undergo vaccination. Mild and transient relapses were observed in 16 (5%) patients ( 13CIDP, 3 MMN) after SARS-CoV-2 vaccination and in none of the patients who did not undergo vaccination (relative risk [RR] 3.21, 95% confidence interval [CI] 0.19-52.25).There was no increase in the specific risk of relapse associated with type of vaccine or diagnosis. Comparison with the 3-month control period preceding vaccination revealed an increased risk of relapse after vaccination (RR 4.00, 95% CI 1.35-11.82), which was restricted to CIDP patients (RR 3.25, 95% CI 1.07-9.84). The safety profile of SARS-CoV-2 vaccination was characterized by short-term, mild-to-moderate local and systemic adverse events. Conclusions:Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination in CIDP and MMN patients does not seem to be associated with an increased risk of relapse at the primary end-point, although a slightly increased risk in CIDP patients was found compared to the 3 months before vaccination.

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