PARVB and HSD17B13 variants are associated with nonalcoholic fatty liver disease in children.

BACKGROUND AND AIM: The aim of this study was to investigate the comprehensive genetic effects of exploratory variants of LYPLAL1, GCKR, HSD17B13, TRIB1, APOC3, MBOAT7, and PARVB on pediatric nonalcoholic fatty liver disease in addition to the previously reported variants of TM6SF2, PNPLA3, and SAMM50 in Korean children. METHODS: A prospective case-control study was conducted involving 309 patients diagnosed using ultrasound and 339 controls. Anthropometric measurements, liver function tests, and metabolic marker analysis were conducted, and fibrosis scores were calculated. Transient elastography was performed in 69 some patients with nonalcoholic fatty liver disease. TaqMan allelic discrimination assays were used for genotyping. The genetic risk scores were calculated using significant variants, namely, HSD17B13, PARVB, PNPLA3, SAMM50, and TM6SF2, to evaluate the additive effect. RESULTS: Risk allele carriers of the PARVB variant showed significantly higher levels of aminotransferases, gamma-glutamyl transferase, alkaline phosphatase, pediatric nonalcoholic fatty liver disease fibrosis score, and aspartate aminotransferase/platelet ratio index. Individuals with a homozygous variant of HSD17B13 showed significantly lower levels of aminotransferase, gamma-glutamyl transferase, liver stiffness measurement, and aspartate aminotransferase/platelet ratio index than those with other genotypes. These parameters did not significantly differ among other variants of LYPLAL1, GCKR, TRIB1, APOC3, and MBOAT7. The genetic risk scores was identified as an independent risk factor for nonalcoholic fatty liver disease and had a positive association with severity. CONCLUSION: HSD17B13 has protective effects on the severity of pediatric nonalcoholic fatty liver disease. Variants of HSD17B13, PARVB, PNPLA3, SAMM50, and TM6SF2 had an additive effect on nonalcoholic fatty liver disease.

Development of a COVID-19 Vulnerability Index (CVI) for the Counties and Residents of New Jersey, USA.

The coronavirus disease 2019, or COVID-19, has impacted countless aspects of everyday life since it was declared a global pandemic by the World Health Organization in March of 2020. From societal to economic impacts, COVID-19 and its variants will leave a lasting impact on our society and the world. During the height of the pandemic, it became increasingly evident that indices, such as the Center for Disease Control's (CDC) Social Vulnerability Index (SVI), were instrumental in predicting vulnerabilities within a community. The CDC's SVI provides important estimates on which communities will be more susceptible to 'hazard events' by compiling a variety of data from the U.S. Census and the American Community Survey. The CDC's SVI does not directly consider the susceptibility of a community to a global pandemic, such as the COVID-19 pandemic, due to the four themes and 15 factors that contribute to the index. Thus, the objective of this research is to develop a COVID-19 Vulnerability Index, or CVI, to evaluate a community's susceptibility to future pandemics. With 15 factors considered for CDC's SVI, 26 other factors were also considered for the development of the CVI that covered themes such as socioeconomic status, environmental factors, healthcare capacity, epidemiological factors, and disability. All factors were equally weighted to calculate the CVI based on New Jersey. The CVI was validated by comparing index results to real-world COVID-19 data from New Jersey's 21 counties and CDC's SVI. The results present a stronger positive linear relationship between the CVI and the New Jersey COVID-19 mortality/population and infection/population than there is with the SVI. The results of this study indicate that Essex County has the highest CVI, and Hunterdon County has the lowest CVI. This is due to factors such as disparity in wealth, population density, minority status, and housing conditions, as well as other factors that were used to compose the CVI. The implications of this research will provide a critical tool for decision makers to utilize in allocating resources should another global pandemic occur. This CVI, developed through this research, can be used at the county, state, and global levels to help measure the vulnerability to future pandemics.

Late Outcomes of Pediatric and Congenital Heart Disease Patients Following Cardiac Resynchronization Therapy.

BACKGROUND AND OBJECTIVES: Cardiac resynchronization therapy (CRT) is an effective treatment for heart failure. However, in pediatric and congenital heart disease (CHD) patients, current adult indications cannot be directly applied because of heterogeneity in anatomy and diagnosis. Therefore, CRT responses and clinical outcomes in these patients were investigated to derive possible candidates for CRT. METHODS: This study retrospectively analyzed 16 pediatric and CHD patients who underwent CRT implantation at a single center in early (0.7±0.2 year) and late (4.7±0.3 years) follow-up period after CRT. RESULTS: The median age at CRT implantation was 2.5 (0.3-37.2) years, and median follow-up duration was 6.3 (0.1-13.6) years. Thirteen had non-transvenous CRT. Two had congenital complete atrioventricular (AV) block with previous right ventricular pacing, 5 had dilated cardiomyopathy (DCM) with left bundle branch block, and 9 had CHD. The mean ejection fraction of the systemic ventricle increased from 28.1±10.0% to 44.3±21.0% (p=0.003) in early and 51.8±16.3% (p=0.012) in late outcome. The mean functional class improved from 3.1±0.9 to 1.8±1.1 after CRT (p=0.003). Twelve patients (75%) showed improvement in ventricular function or functional class after CRT. Proportion of responders differed between patients without CHD (2/2 patients with complete AV block and 5/5 with DCM, 100%) and those with CHD (5/9, 56%), although statistical significance was not reached (p=0.088). CONCLUSIONS: CRT improved ventricular function and functional status according to the underlying condition in pediatric and CHD patients. However, further large and longer-term studies are needed to establish the guideline for the patient selection of CRT in these patients.