The SNCA locus harbors a minimum of 3 independent association signals for Parkinson disease. We demonstrate a fine-grained stratification of α-synuclein-related genetic burden in individual patients of potential future clinical relevance. Further efforts to pinpoint the functional mechanisms are warranted, including studies of the likely causal top variant rs356182 and its role in regulating levels of specific SNCA mRNA transcript variants. Ann Neurol 2018;83:117-129.
The cytological Ki-67 expression measured on cytological samples collected by endoscopic ultrasonography-guided fine needle aspiration cytology (EUS-FNAC) may provide pre-operative indications for pancreatic endocrine tumours (PETs) management. The aim of our study was to assess reliability of Ki-67 expression measured on cytological samples obtained by EUS-FNAC in patients with PETs. Eighteen patients with PETs underwent EUS-FNAC before surgery. Ki-67 expression was measured on FNACs and on histological sections. Using a cut-off of 2%, percent agreement of Ki-67 expression on cytological and histological samples was 89% (k-statistic: 0.78, 95% confidence intervals (95% CI): 0.5, 1.0). Using cut-off values of 2 and 10%, percent agreement was 78% (k-statistic: 0.65, 95% CI: 0.3, 0.9). Ki-67 expression measured on cytological samples obtained by EUS-FNAC before surgery showed good agreement with that measured on histological samples.
Objective
An unprecedented wave of patients with acute respiratory failure due to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) disease (COVID-19) hit Emergency Departments (EDs) in Lombardy, starting in the second half of February 2020. This study describes the direct and indirect impacts of the SARS-CoV-2 outbreak on an urban major-hospital ED.
Methods
Data regarding all patients diagnosed with COVID-19 presenting from February 1st to March 31st 2020 were prospectively collected, while data regarding non-COVID patients presenting within the same period were retrospectively retrieved.
Results
ED attendance dropped by 37% in 2020. Two-thirds of this reduction occurred early after the identification of the first autochthonous COVID-19 case in Lombardy, before lockdown measures were enforced. Hospital admissions of non-COVID patients fell by 26%. During the peak of COVID-19 attendance, the ED faced an extraordinary increase in: patients needing oxygen (+239%) or NIV (+725%), transfers to the intensive care unit (+57%), and in-hospital mortality (+309%), as compared to the same period in 2019.
Conclusions
The COVID-19 outbreak determined an unprecedented upsurge in respiratory failure cases and mortality. Fear of contagion triggered a spontaneous, marked reduction of ED attendance, and, presumably, some as yet unknown quantity of missed or delayed diagnoses for conditions other than COVID-19.
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