Identification of novel genomic imbalances in Saudi patients with congenital heart disease

Abstract Background Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations (CNV), chromosomal imbalances and rearrangements have been frequently associated with CHD. Previously, due to limitations of microscope based standard karyotyping techniques copious CNVs and submicroscopic imbalances could not be detected in numerous CHD patients. The aim of our study is to identify cytogenetic abnormalities among the selected CHD cases (n = 17) of the cohort using high density oligo arrays. Results Our screening study indicated that six patients (~35%) have various cytogenetic abnormalities. Among the patients, only patient 2 had a duplication whereas the rest carried various deletions. The patients 1, 4 and 6 have only single large deletions throughout their genome; a 3.2 Mb deletion on chromosome 7, a 3.35 Mb deletion on chromosome 3, and a 2.78 Mb a deletion on chromosome 2, respectively. Patients 3 and 5 have two deletions on different chromosomes. Patient 3 has deletions on chromosome 2 (2q24.1; 249 kb) and 16 (16q22.2; 1.8 Mb). Patient 4 has a 3.35 Mb an interstitial deletion on chromosome 3 (3q13.2q13.31). Based on our search on the latest available literature, our study is the first inclusive array CGH evaluation on Saudi cohort of CHD patients. Conclusions This study emphasizes the importance of the arrays in genetic diagnosis of CHD. Based on our results the high resolution arrays should be utilized as first-tier diagnostic tool in clinical care as suggested before by others. Moreover, previously evaluated negative CHD cases (based on standard karyotyping methods) should be re-examined by microarray based cytogenetic methods

STIGMA TOWARDS HEALTH CARE PROVIDERS TAKING CARE OF COVID-19 PATIENTS: A MULTI-COUNTRY STUDY

Background: Health care providers (HCPs) have always been a common target of stigmatization during widespread infections and COVID-19 is not an exception. Aim: This study aims to investigate the prevalence of stigmatization during the COVID-19 pandemic among HCPs in seven different countries using the Stigma COVID-19 Healthcare Providers tool (S19-HCPs). Design: Cross-sectional. Methods: The S19-HCPs is a self-administered online survey (16-item) developed and validated by the research team. The participants were invited to complete an online survey. Data collection started from June–July 2020 using a convenience sample of HCPs from Iraq, Jordan, Egypt, Saudi Arabia, Indonesia, Philippines, and Kuwait. Results: A total number of 1726 participants were included in the final analysis. The majority of the study participants were Jordanians (22%), followed by Kuwaitis (19%), Filipinos (18%) and the lowest participants we Indonesians (6%). Other nationalities were Iraqis, Saudis, and Egyptians with 15%, 11% and 9% respectively. Among the respondents, 57% have worked either in a COVID-19 designated facility or in a quarantine center and 78% claimed that they had received training for COVID-19. Statistical significance between COVID-19 stigma and demographic variables were found in all aspect of the S19-HCPs. Conclusion: The findings of this study demonstrated high levels of stigmatization against HCPs in all the included seven countries. On the other hand, they are still perceived positively by their communities and in their utmost, highly motivated to care for COVID-19 patients. Educational and awareness programs could have a crucial role in the solution of stigmatization problems over the worl

Who are the long-QT syndrome patients who receive an implantable cardioverter-defibrillator and what happens to them?: Data from the European Long-QT syndrome implantable cardioverter-defibrillator (LQTS ICD) registry

Background-: A rapidly growing number of long-QT syndrome (LQTS) patients are being treated with an implantable cardioverter-defibrillator (ICD). ICDs may pose problems, especially in the young. We sought to determine the characteristics of the LQTS patients receiving an ICD, the indications, and the aftermath. Methods And Results-: The study population included 233 patients. Beginning in 2002, data were collected prospectively. Female patients (77%) and LQT3 patients (22% of genotype positive) were overrepresented; mean QTc was 516±65 milliseconds; mean age at implantation was 30±17 years; and genotype was known in 59% of patients. Unexpectedly, 9% of patients were asymptomatic before implantation. Asymptomatic patients, almost absent among LQT1 and LQT2 patients, represented 45% of LQT3 patients. Patients with cardiac symptoms made up 91% of all study participants, but only 44% had cardiac arrest before ICD implantation. In addition, 41% of patients received an ICD without having first been on LQTS therapy. During follow-up, 4.6±3.2 years, at least 1 appropriate shock was received by 28% of patients, and adverse events occurred in 25%. Appropriate ICD therapies were predicted by age 500 milliseconds, prior cardiac arrest, and cardiac events despite therapy; within 7 years, appropriate shocks occurred in no patients with none of these factors and in 70% of those with all factors. Conclusions-: Reflecting previous concepts, ICDs were implanted in some LQTS patients whose high risk now appears questionable. Refined criteria for implantation, reassessment of pros and cons, ICD reprogramming, and consideration for other existing therapeutic options are necessary