No abstract

Vitamin D & vitamin D receptor (VDR) signaling play a very crucial role in early embryonic heart development. We construct this case-control study to investigate the association between maternal serum vitamin D level & VDR gene Fok1 polymorphism and risk of congenital heart defects (CHD) in offspring. Fifty mothers who had term neonates with CHD were considered as cases. Fifty age-comparable healthy mothers who had neonates without CHD were contemplated as controls. Maternal serum 25 hydroxyvitamin D [25(OH) D] level was tested using ELISA. Maternal VDR gene Fok1 polymorphism was analyzed using PCR-based RFLP-assay. There was a significant decrease in maternal vitamin D level ( P = 0.002) and a significant increase in vitamin D deficient status ( P = 0.007) among cases when compared to controls. VDR gene Fok1 genotypes distribution frequency were in accordance with Hardy Weinberg equilibrium (HW) among controls. A significant increase in VDR gene Fok1 F/f & f/f genotypes and f allele were observed in cases compared to controls with estimated odds ratio (95% confidence interval) & P -value of 3 (1–8) & P = 0.006, 11 (1–97) & P = 0.01 and 3 (2–6) & P = 0.001 respectively. There was a significant decrease in maternal vitamin D level in neonates with cyanotic CHD ( P = 0.000) compared to those with a cyanotic CHD while there was no significant difference in VDR Fok1 genotype ( P = 0.18) & allele ( P = 0.05) distribution between two groups. We concluded that maternal vitamin D deficiency and VDR gene Fok1 F/f, f/f genotype and f allele were associated with increased risk of CHD in offspring.

In contrast with previous publications a distinct diurnal pattern was noted in the majority of neonates.

No abstract

The ongoing COVID-19 pandemic has highlighted the central role of diagnostic tests in pandemic control. Although reverse transcriptase quantitative real-time PCR (RT-qPCR) is the gold standard for the diagnosis of COVID-19, several rapid antigen tests (RAT) have been commercialized as rapid point-of-care diagnostics. To the best of our knowledge, there are limited data on the effect of patient’s clinical and laboratory parameters on RAT performance and no studies exist that tested the importance of combining laboratory measurements in patient’s blood in enhancing the performance of RAT. Here we tried to fill these gaps by evaluating the diagnostic performance of the RAT “Standard ™ Q COVID-19 Ag” in participant’s subgroups studying the influence of viral load, sampling time-post symptoms, clinical and laboratory features on test performance. Eighty-three nasopharyngeal and oropharyngeal swabs were tested for sever acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) by both RT-qPCR and RAT. Diagnostic accuracy of the RAT was evaluated for participant’s subgroups that have various features. Support vector machine model was then used to investigate whether laboratory measurements in subject’s blood would enhance the predictive accuracy of this RAT. The sensitivity, specificity and accuracy of the RAT were 78.2, 64.2 and 75.9%, respectively. Samples with high viral load and those that were collected within one week post-symptom showed the highest sensitivity and accuracy. Measuring Laboratory indices did not enhance the predictive accuracy of this RAT. It is concluded that “Standard ™ Q COVID-19 Ag” should not be used alone for COVID-19 diagnosis due to its low diagnostic performance. This RAT is best used at early disease stage and in patients with high viral load.