Gene symbol: SCN5A.

A 8-year-old white female was referred to our attention for a suspected Long QT syndrome. The clinical history was negative for cardiac events. The prolongation of the QTc was initially observed after assumption oi Qf proiongi.rg drugs (clarithromycin). However, even without those drugs and with normal potassium values, the QTc wai still prolonged (QTc 490 ms in D2) and during the recovery phase of exercise a iurther prolongation of the QT, associated with the appearance of notched T waves in V2-V3, was observed. Echocardiography showed normal features. LQTS genes were screened through DHPLC and sequence analysis. A double mutation was identified, one on KCNQ1 (A372D), already described as a disease-causing mutation and a second novel one (R1175C) in the intra-cellular loop between D2 and D3 on SCNSA. This second mutation is in a highly conserved aminoacid and was not identified in 150 controls

Simple parameters from complete blood count predict in-hospital mortality in covid-19

Introduction. The clinical course of Coronavirus Disease 2019 (COVID-19) is highly heterogenous, ranging from asymptomatic to fatal forms. The identification of clinical and laboratory predictors of poor prognosis may assist clinicians in monitoring strategies and therapeutic decisions. Materials and Methods. In this study, we retrospectively assessed the prognostic value of a simple tool, the complete blood count, on a cohort of 664 patients (F 260; 39%, median age 70 (56-81) years) hospitalized for COVID-19 in Northern Italy. We collected demographic data along with complete blood cell count; moreover, the outcome of the hospital in-stay was recorded. Results. At data cut-off, 221/664 patients (33.3%) had died and 453/664 (66.7%) had been discharged. Red cell distribution width (RDW) (χ2 10.4; p < 0:001), neutrophil-to-lymphocyte (NL) ratio (χ2 7.6; p = 0:006), and platelet count (χ2 5.39; p = 0:02), along with age (χ2 87.6; p < 0:001) and gender (χ2 17.3; p < 0:001), accurately predicted in-hospital mortality. Hemoglobin levels were not associated with mortality. We also identified the best cut-off for mortality prediction: a NL ratio > 4:68 was characterized by an odds ratio for in-hospital mortality ðORÞ = 3:40 (2.40-4.82), while the OR for a RDW > 13:7% was 4.09 (2.87-5.83); a platelet count > 166,000/μL was, conversely, protective (OR: 0.45 (0.32-0.63)). Conclusion. Our findings arise the opportunity of stratifying COVID-19 severity according to simple lab parameters, which may drive clinical decisions about monitoring and treatment