Background:
Sudden cardiac arrest (SCA) and sudden unexplained death (SUD) are feared sequelae of many genetic heart diseases. In rare circumstances, pathogenic variants in cardiomyopathy-susceptibility genes may result in electrical instability leading to SCA/SUD before any structural manifestations of underlying cardiomyopathy are evident.
Methods:
Collectively, 38 unexplained SCA survivors (21 males; mean age at SCA 26.4±13.1 years), 68 autopsy-inconclusive SUD cases (49 males; mean age at death 20.4±9.0 years) without disease-causative variants in the channelopathy genes, and 973 ostensibly healthy controls were included. Following exome sequencing, ultrarare (minor allele frequency ≤0.00005 in any ethnic group within Genome Aggregation Database [gnomAD, n=141 456 individuals]) nonsynonymous variants identified in 24 ClinGen adjudicated definitive/strong evidence cardiomyopathy-susceptibility genes were analyzed. Eligible variants were adjudicated as pathogenic, likely pathogenic, or variant of uncertain significance in accordance with current American College of Medical Genetics and Genomics guidelines.
Results:
Overall, 7 out of 38 (18.4%) SCA survivors and 14 out of 68 (20.5%) autopsy-inconclusive, channelopathic-negative SUD cases had at least one pathogenic/likely pathogenic or a variant of uncertain significance nonsynonymous variant within a strong evidence, cardiomyopathy-susceptibility gene. Following American College of Medical Genetics and Genomics criterion variant adjudication, a pathogenic or likely pathogenic variant was identified in 3 out of 38 (7.9%;
P
=0.05) SCA survivors and 8 out of 68 (11.8%;
P
=0.0002) autopsy-inconclusive SUD cases compared to 20 out of 973 (2.1%) European controls. Interestingly, the yield of pathogenic/likely pathogenic variants was significantly greater in autopsy-inconclusive SUD cases with documented interstitial fibrosis (4/11, 36%) compared with only 4 out of 57 (7%,
P
<0.02) SUD cases without ventricular fibrosis.
Conclusion:
Our data further supports the inclusion of strongevidence cardiomyopathy-susceptibility genes on the genetic testing panels used to evaluate unexplained SCA survivors and autopsy-inconclusive/negative SUD decedents. However, to avoid diagnostic miscues, the careful interpretation of genetic test results in patients without overt phenotypes is vital.
Introduction: BCG vaccine (bacillus Calmette–Guérin) has been developed against tuberculosis and proven to be used for other purposes by activating and/or training innate immunity. The protective effect against the new coronavirus should be investigated and tested while a specific vaccine is not available. Objective: To compare the acceleration rates of incidence and lethality of COVID-19 according to the vaccination program for BCG of the main countries affected by the pandemic. Methods: Part one of three of the data survey from official sources on the number of cases and number of deaths by COVID-19 between December 31, 2019 and April 11, 2020, being calculated the incidence, mortality and lethality acceleration rates, and compared among predefined groups according to their BCG vaccination programs. Results: Countries without a vaccination program in place or that never had one for BCG had incidence and mortality acceleration rates of 21.36 and 53.21 times higher (p < 0.001), respectively, than the same rates in countries with a universal vaccination program. In addition, patients with an expanded vaccination program had a 43% lower mortality rate (p < 0.001) compared to countries with a vaccination program at birth only. Conclusion: There is a correlation between the coverage of BCG vaccination programs and the acceleration in the number of new cases and deaths in countries, showing a possible protective factor in places with existing BCG vaccination programs.
Introduction: the necessity for a temporary pacemaker (TP) goes through several scenarios. Some patients require the device to complete an infection treatment, regain the pace after myocardial infarction, or while awaiting the release of the definitive device by the health care provider. Regardless of the TP passage technique, good electrode fixation is essential, avoiding dislocation and the necessity for repositioning, among other complications. Objective: to compare two forms of TP fixation, one under direct fixation to the skin and the other keeping the venous introducer connected to the plastic protection through the pacemaker electrode lead. Methods: Forty patients were randomized, 20 in each group. Data regarding the procedure time, electrode lead position, command thresholds, sensitivity, and complications were recorded. The primary outcome considered was the necessity for repositioning or exchange of transvenous TP and secondary any complication without the necessity to reposition it. Results: There were no significant differences in the total duration of the procedure between the groups in the initial position of the electrode and the access route used. The group with plastic protection had a higher primary outcome (60%) than the direct fixation group (20%; p = 0.0098). There were no differences regarding the secondary outcome (p = 1.0). The group with plastic protection also had more total complications compared to the other group (p = 0.0262). Conclusion: Direct fixation of the pacemaker electrode lead was safer concerning the fixation with plastic protection, reducing complications such as electrode dislocation requiring repositioning or replacement without increasing the procedure time.
Introduction: The pandemic caused by the new coronavirus brought difficulties to global health and the economy. The race for an effective therapy to control the disease is launched, and an understanding of the pathophysiology is necessary. The BCG (bacillus Calmette–Guérin) vaccine activates and modulates innate immunity, and its protective effect against the new coronavirus should be investigated. Objective: To compare the incidence, mortality, and lethality rates of COVID-19 according to the vaccination program for BCG of the main countries affected by the pandemic. Methods: The second of three phases of a data survey was carried out from official sources on the number of cases and number of deaths by COVID-19 between April 11 and May 11, 2020, and the incidence, mortality and lethality rates were calculated and compared among predefined groups according to their BCG vaccination programs. In the same way, the acceleration rate between the groups in the period under analysis was performed. Results: Similar to the results found in the first phase in April, the countries without an active BCG vaccine program had, on average, 3.96, 9.34, and 2.35 (p < 0.001) higher ratios in the incidence, mortality and lethality rates, respectively. Conclusion: There is a protective connection between the presence of active BCG vaccination programs and the number of cases and deaths per inhabitant in the countries studied, showing a possible cross effect of innate immunity against the new coronavirus.
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