Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report.

The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases.

Prematurity-Risk Factor or Coincidence in Congenital Glaucoma?

Background and Objective: To correlate the intraocular pressure with the postconceptional age and identify a statistically significant connection between congenital glaucoma and prematurity. Materials and Methods: The current paper is a retrospective, comparative, case-control study. Data collection featured maternal age, gestational age at birth, birth weight, and intraocular ocular pressure (IOP) measurements. Results: Forty-two eyes of 21 children underwent examination. The participants were assigned into two groups. The Preterm-Glaucoma (PG) group included eight preterm-born children diagnosed with glaucoma, whereas the Preterm (P) group was comprised of premature newborns without the aforementioned condition. There was no statistically relevant difference in birth weight (p = 0.691078) nor in mean gestational age (p = 0.752623) between the two groups. The mean IOP in the PG group was 23.813 ± 4.5493, whereas in the P group, it ranged around 13.231 ± 1.0699, p < 0.0001. Using mixed-effects models, we obtained a reduction in IOP of 0.45 mmHg per week in the first month of life. A further weekly reduction of 0.36 mmHg was achieved in the next two months. Conclusions: The mean IOP of prematurely born children decreased with age. Our findings correlate with previously conducted studies, however, the drop in IOP values exceeded any data published so far. We found no correlation between prematurity and the incidence of congenital glaucoma.

Romanian adolescents' knowledge and attitudes towards human papillomavirus infection and prophylactic vaccination.

OBJECTIVES: Since licensure of HPV vaccine in 2006, HPV vaccine coverage among Romanian adolescents remains worryingly low. The objectives of the study were to assess the knowledge and attitudes towards HPV infection and vaccination among Romanian adolescents and to explore the barriers to HPV vaccination with a view to developing strategies for expanding primary HPV infection prevention. STUDY DESIGN: This study was conducted in Bucharest between April and June 2015. A total of 524 adolescents aged 16-18 years old were recruited from the first two general highschools in Bucharest (according to the admission grade) and completed a self-administered questionnaire including demographics, HPV related and Papanicolau smear test knowledge. Odds ratio and 95% confidence intervals were used to identify the strength of association. Logistic regression analysis was used to identify the effect of demographic characteristics on the level of knowledge and HPV vaccination rate. Associations were considered statistically significant at p<0.05. RESULTS: Of the adolescents interviewed, a very small proportion had heard of HPV infection, HPV vaccine and Papanicolau smear test, that is, 20.22%, 67.92% and 22.9%, respectively. The overall vaccination rate for this group was 2.3%. The most common reason for not receiving the HPV vaccine was the lack of information (80.6%) followed by parents' concerns regarding safety (11%), fear of pain (5.59%) and not being sexually active (2.7%). However, 97.7% of the respondents declared interest in receiving more information about HPV. According to demographic characteristics, age at first sexual intercourse over 16 years old, monthly household income over one thousand euros and self-perceived good relationship with family members were statistically associated on a multivariate logistic regression analysis with a high HPV knowledge score and rate of vaccination. CONCLUSIONS: This study shows a low level of knowledge about HPV infection and prophylactic vaccination among Romanian adolescents which may be one of the most important factors for the alarmingly low HPV vaccination rate. We specifically call for HPV knowledge and awareness programs; the implication of health professionals, Romanian media and family members should be included as a centrepiece in the effort to inform this vulnerable population group.