[A case of encapsulating peritoneal sclerosis after fifteen years of peritoneal dialysis with a favorable outcome]. / Un caso di peritonite sclerosante incapsulante con esito favorevole dopo 15 anni di dialisi peritoneale.

Encapsulating peritoneal sclerosis (EPS) represents a critical complication of peritoneal dialysis (PD). EPS is characterized by abdominal discomfort, often leading to fatal outcomes with limited pharmaceutical and surgical options. Herein is described a case of EPS with a favorable outcome in an African male treated with PD for 15 years. Repeated courses of prednisone and tamoxifen significantly attenuated the abdominal symptoms and the peritoneal membrane thickening. This case suggests a time dependent effect of medical treatment encouraging clinical efforts to maintain a mild immunosuppressant regimen and tamoxifen in the presence of EPS also on the long run. Future and ad hoc studies should test this hypothesis.

Identification of novel single nucleotide polymorphisms in promoter III of the acetyl-CoA carboxylase-{alpha} gene in goats affecting milk production traits.

Acetyl-CoA carboxylase-alpha (ACACA) is the major regulatory enzyme of fatty acid biosynthesis. We have sequenced a fragment of Promoter III of the ovine ACACA gene in 211 goats of 5 breeds. The caprine sequence showed a high nucleotide identity (99%) with the ovine. We have identified 3 novel single nucleotide polymorphisms (SNPs) that fall in the core sequence of putative binding sites of transcription factors and have lower allele frequency than the wild type in all breeds. We evaluated the allele substitution effect of the SNPs on milk traits in the Saanen and the Local Grey breeds. Results from this study show that the mutations are associated with fat yield.