[Congenital uterine anomalies and their association with fertility and pregnancy outcomes].

Congenital uterine anomalies (CUAs) are present in up to 10% of all women. Data suggest that women with CUAs are at higher risk of recurrent spontaneous abortions and adverse pregnancy outcomes. It is still debated whether these women have impaired fertility.

[Caesarean delivery in a woman with a unicorn uterus and foetal breech presentation].

In this case report a unicorn uterus was diagnosed at a caesarean delivery in a 23-year-old woman with known foetal breech presentation and suspected low foetal weight. She had had a failed attempt of cephalic version two weeks before delivery, and her baby's weight was checked regularly in third term. Unicorn uterus is associated with a higher risk of spontaneous abortions, infertility, preterm labour, foetal malpresentation, low birth weight, caesarean delivery and renal malformations.

Frequently used bioinformatics tools overestimate the damaging effect of allelic variants.

We selected two sets of naturally occurring human missense allelic variants within innate immune genes. The first set represented eleven non-synonymous variants in six different genes involved in interferon (IFN) induction, present in a cohort of patients suffering from herpes simplex encephalitis (HSE) and the second set represented sixteen allelic variants of the IFNLR1 gene. We recreated the variants in vitro and tested their effect on protein function in a HEK293T cell based assay.

Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.

Herpes simplex encephalitis (HSE) in children has previously been linked to defects in type I interferon production downstream of Toll-like receptor (TLR)3. In the present study, we used whole-exome sequencing to investigate the genetic profile of 16 adult patients with a history of HSE. We identified novel mutations in IRF3, TYK2 and MAVS, molecules involved in generating innate antiviral immune responses, which have not previously been associated with HSE.