Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability.

Congenital hyperinsulinism (CHI) is a rare disorder of glucose metabolism and is the most common cause of severe and persistent hypoglycemia (hyperinsulinemic hypoglycemia, HH) in the neonatal period and childhood. Most cases are caused by mutations in the ABCC8 and KCNJ11 genes that encode the ATP-sensitive potassium channel (KATP). We present the correlation between genetic heterogeneity and the variable phenotype in patients with early-onset HH caused by ABCC8 gene mutations. In the first patient, who presented persistent severe hypoglycemia since the first day of life, molecular genetic testing revealed the presence of a homozygous mutation in the ABCC8 gene [deletion in the ABCC8 gene c.(2390+1_2391-1)_(3329+1_3330-1)del] that correlated with a diffuse form of hyperinsulinism (the parents being healthy heterozygous carriers). In the second patient, the onset was on the third day of life with severe hypoglycemia, and genetic testing identified a heterozygous mutation in the ABCC8 gene c.1792C>T (p.Arg598*) inherited on the paternal line, which led to the diagnosis of the focal form of hyperinsulinism. To locate the focal lesions, (18)F-DOPA (3,4-dihydroxy-6-[18F]fluoro-L-phenylalanine) positron emission tomography/computed tomography (PET/CT) was recommended (an investigation that cannot be carried out in the country), but the parents refused to carry out the investigation abroad. In this case, early surgical treatment could have been curative. In addition, the second child also presented secondary adrenal insufficiency requiring replacement therapy. At the same time, she developed early recurrent seizures that required antiepileptic treatment. We emphasize the importance of molecular genetic testing for diagnosis, management and genetic counseling in patients with HH.

Assessing the Opinion of Mothers about School-Based Sexual Education in Romania, the Country with the Highest Rate of Teenage Pregnancy in Europe.

Background and Objectives: Without mandatory school-based education, Romania is a leading European country in teen pregnancy. This survey aimed at assessing the level of knowledge and the opinions about sexual education and sexual-related issues among mothers of female teenagers aged 13-18 years old. Material and Methods: The survey was conducted between 2015 and 2017 and had four parts, collecting data about sociodemographic variables, the level of knowledge about sexuality, sexually transmitted diseases, and contraception. The respondents were mothers of female teenagers hospitalized in a tertiary pediatric clinic. Data were analyzed using IBM Statistical Package for Social Sciences (SPSS) Statistics for Windows, version 25 (Inc., Chicago, IL, USA). Results: One hundred and thirty-five mothers (42.46 ± 6.81 years old) were included in the research. Most of them were from rural areas, had graduated secondary school, were Christian-orthodox, married, and with a stable job. More than half of the mothers (61.42%) declared that they personally knew adolescents that were already mothers. In great proportion, mothers proved good knowledge about sexual education, contraception, and STDs. They considered that the minimum age for becoming married, in general, is about M = 18.62 ± 2.09 years old but in the case of their daughters, mothers appreciated that the best age would be 23.56 ± 9.37. Mothers considered that they had good communication with their daughters (M = 4.28 ± 0.99) and two-thirds sustained that they had discussed with them about sexual activity, pregnancy, sexually transmitted diseases, and contraception. In case of unwanted pregnancy of their daughters, one-third of the mothers (38.50%) would advise their girls to continue the pregnancy and 7.40% mentioned the termination of pregnancy. Two-thirds of them (74.10%) agreed to school-based sexual education. In the order of preferred sources for sexual education, mothers mentioned parents (85.90%), teachers (33.30%), and family doctors (24.40%). Comparative results regarding their own sex life and that of their daughters are presented. Conclusions: School-based programs should meet parental beliefs about sexuality and sexual education. School, as a creator of values and models, should find the golden ratio to better shape the personal, familial, and social needs for the healthy sexual behavior of the new generation.

Fatal neonatal persistent pulmonary hypertension caused by vegetations of infective endocarditis - case report and review of the literature.

Neonatal infective endocarditis is a rare condition and usually pertains to a specific class of immunologically depressed preterm infants, with a long history of invasive procedures in the Neonatal Intensive Care Unit. We report the case of an aggressive and fatal neonatal infective endocarditis in a full-term infant, who developed massive endocardial vegetations on the tricuspid valve, leading to persistent pulmonary hypertension of the newborn, unresponsive to nitric oxide ventilation. Post-mortem cardiac cultures were positive with Serratia marcescens, an unusual germ for an early-onset infection, which was absent in blood cultures.

Influence of refrigeration or freezing on human milk macronutrients and energy content in early lactation: Results from a tertiary centre survey.

BACKGROUND: Neonates with severe conditions that cannot be breastfed should receive fresh or preserved expressed human milk in addition to parenteral nutrition. OBJECTIVE: To identify the time during lactation when the macronutrients provide maximum energy and evaluate the effect of refrigeration and freezing. METHODS: We analyzed the composition of fresh milk, refrigerated at +4°C and frozen at -20°C, expressed by mothers of 60 preterm and 30 term infants from a level III maternity, in colostrum, transitional, and mature milk. RESULTS: In fresh milk, the protein level constantly decreases during lactation, with a significant difference after 3 weeks of lactation. Preterm milk of day 21 and day 30 had significantly lower protein than term milk (1.27 versus 1.43 g/dL, P=0.015 and 1.13 versus 1.28 g/dL, P=0.001). Refrigeration for 72 hours of term milk decreased protein content less than freezing. Preterm colostrum has significantly less protein after 48 hours of refrigeration or freezing. Preterm milk from day 60 lost carbohydrates if refrigerated 72 hours or frozen for 2 months. Lipids in preterm colostrum decrease after 8 weeks of freezing. Refrigeration for up to 72 hours did not change significantly the energy value of colostrum or transitional milk. Freezing preterm milk more than 2 weeks leads to significant loss of energy. CONCLUSIONS: Milk frozen for more than 2 weeks contains less protein and energy than milk refrigerated for up to 72 hours. In the absence of milk bank access, in common settings, short-term refrigeration is preferable to long-term freezing.