When the Ideal Meets the Feasible: Constructing a Protocol for Developmental Assessment at Early School-Age

Objective: To describe development of a methodology for an outcome study of children born following in-vitro fertilization or spontaneously-conceived, as a model for defining normal and below-normal development of school-age children for research purposes.Study Design: The main issues addressed were defining the major health and developmental domains to be investigated, selection of age-appropriate validated instruments, considering time constraints to maximize compliance, and budgetary limitations. The final protocol included a half-hour structured telephone interview with mothers of all 759 children and a 2-h developmental assessment of 294 of them. Each of the instruments and recruiting methods are described in terms of the abovementioned considerations.Results: Almost all of the mothers who agreed to be interviewed completed it within the half-hour allotted; however only about half of those who agreed to bring the child for the developmental assessment actually did so. The entire examination battery, assessing cognitive ability, executive functions, attention, and learning skills, was completed by almost all 294 children. There was a significant degree of agreement between the maternal report of the child's reading, writing and arithmetic skills and the in-person examination, as well as regarding the child's weight and height measurements.Conclusion: The findings lend support for a low-budget study, relying on telephone interviews. However, limitations such as the validity of maternal report and recall bias must be taken into consideration

Obstetric and Neonatal Outcomes following COVID-19 Vaccination in Pregnancy

COVID-19 infection imposes a risk for pregnant individuals and may lead to adverse maternal and obstetric outcomes. This is a retrospective cohort study of all women giving birth between March and July 2021 at a single tertiary center. Obstetric and neonatal outcomes were compared between vaccinated and non-vaccinated pregnant women with singleton pregnancies. Women with prior COVID-19 infection, multiple gestations and stillbirth were excluded from the study. Of 4708 women who delivered during the study period, 3700 met the eligibility criteria, of whom 3240 were vaccinated during pregnancy. Compared with the non-vaccinated group, the vaccinated group was characterized by a lower rate of smoking (3.70% vs. 6.67%, p = 0.0028), whereasother maternal characteristics were not significantly different. Multivariable analysis demonstrated that COVID-19 mRNA vaccination was not significantly associated with increased risk of preterm birth as well as other adverse obstetric outcomes including hypertensive diseases of pregnancy, cesarean delivery and small for gestational age. However, a significantly lower risk for meconium-stained amniotic fluid was observed among the vaccinated group (adjusted odds ratio 0.63; 95% confidence interval, 0.46–0.86, p = 0.0039). Moreover, the vaccine was not significantly associated with increased risk of neonatal adverse outcomes including respiratory complications and NICU hospitalization. In conclusion, BNT162b2 messenger RNA vaccination during pregnancy was not associated with an increased rate of adverse obstetric and neonatal outcomes. Therefore, in view of its safety on one hand, and the risk associated with COVID-19 disease in pregnancy on the other hand, BNT 162b2 COVID-19 vaccine should be recommended for pregnant women

Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation

There is increasing recognition of familial propensity to glioma as a distinct clinical entity beyond a few rare syndromes; however its genetic basis is poorly understood. The role of p16(INK4A)/p14(ARF) and p53 mutations in sporadic glioma provides a strong rationale for investigating germline mutations in these genes as a cause of familial glioma. To survey the familial glioma phenotype and examine the contribution of germline mutation in p16(INK4A)/p14(ARF) and p53 to the disease we have analyzed a series of 101 index familial cases collected through the GLIOGENE Consortium (http://braintumor.epigenetic.org/). There was little evidence for within family correlations for tumour histology, suggesting generic susceptibility to glial tumors. We did not detect any functional mutations in p16(INK4A) or p14(ARF). One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome. Our findings provide no evidence that p16(INK4A)/p14(ARF) and p53 mutations contribute significantly to familial glioma