Background Congenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to impaired cerebrospinal fluid (CSF) homeostasis. Primary congenital hydrocephalus is a subset of cases with prenatal onset and absence of another primary cause, e.g., brain hemorrhage. Published series report a Mendelian cause in only a minority of cases. In this study, we analyzed exome data of PCH patients in search of novel causal genes and addressed the possibility of an underlying oligogenic mode of inheritance for PCH. Materials and methods We sequenced the exome in 28 unrelated probands with PCH, 12 of whom from families with at least two affected siblings and 9 of whom consanguineous, thereby increasing the contribution of genetic causes. Patient exome data were first analyzed for rare (MAF < 0.005) transmitted or de novo variants. Population stratification of unrelated PCH patients and controls was determined by principle component analysis, and outliers identified using Mahalanobis distance 5% as cutoff. Patient and control exome data for genes biologically related to cilia (SYScilia database) were analyzed by mutation burden test. Results In 18% of probands, we identify a causal (pathogenic or likely pathogenic) variant of a known hydrocephalus gene, including genes for postnatal, syndromic hydrocephalus, not previously reported in isolated PCH. In a further 11%, we identify mutations in novel candidate genes. Through mutation burden tests, we demonstrate a significant burden of genetic variants in genes coding for proteins of the primary cilium in PCH patients compared to controls. Conclusion Our study confirms the low contribution of Mendelian mutations in PCH and reports PCH as a phenotypic presentation of some known genes known for syndromic, postnatal hydrocephalus. Furthermore, this study identifies novel Mendelian candidate genes, and provides evidence for oligogenic inheritance implicating primary cilia in PCH.

No abstract

Background Infertility affects almost one in five couples but is still poorly understood by the general public. Although the socio-cultural aspect of infertility has already been covered in some countries, there is currently no study concerning the Lebanese population’s view on this topic. This study aims to examine the knowledge and perception of the Lebanese population regarding infertility. The findings of this study could inform the creation of appropriate awareness campaigns aiming to rectify existing ideas based on myths and Lebanese folklore and establish a scientific understanding of infertility. Results Six hundred and nine participants were interviewed, and the responses recorded were statistically significant and correlated with p values < 0.05 with the participants’ personal data, in particular their gender and academic level. Men were twice as likely as women to believe that couple infertility is a valid reason for a divorce or a second marriage. In addition, most men said that they would first consult a gynecologist in the event of couple infertility, which highlights the fact that the general population assumes the cause of infertility is of female origin, even though both sexes are frequently affected. In addition, men are twice as likely as women to refuse to live with an infertile spouse and the most educated respondents tend to be more aware and open to the idea of adopting a child or to use in vitro fertilization. Conclusion This study is the first to examine the socio-cultural beliefs and habits regarding infertility in Lebanon, with a focus on society’s attribution of infertility to women. More studies are needed to understand how a personal experience of infertility can affect one’s understanding and perceptions regarding infertility. Furthermore, Lebanese physicians should adopt a more multidisciplinary approach when managing couple infertility.

Background: This research describes current clinical and demographic features sampled from reproductive endocrinology programs currently offering in vitro fertilization (IVF) in the Middle East.