Peritoneal dialysis (PD) is an effective and frequent dialysis modality in adults, particularly preferred in infants and young children with end-stage renal disease (ESRD). Long-term exposure of the peritoneal membrane to dialysis solutions results in severe morphologic and functional alterations. Peritoneal dialysis effluent biomarkers are based on omics technologies, which could predict the onset or confirm the diagnosis of peritoneal membrane dysfunction, would allow the development of accurate early prognostic tools and, potentially, the identification of future therapeutic targets. The purpose of our study was to critically review the literature on the impact and the effectiveness of metabolomics technologies in peritoneal health. The main search was performed in electronic databases (PubMed/MEDLINE, Embase and Cochrane Central Register of Controlled Trials) from inception to December 2020, using various combinations of Medical Subject Headings (MeSH). The main search highlighted nine studies, of which seven were evaluated in detail. Metabolomics technologies may provide significant input in the recognition of peritoneal membrane dysfunction in PD patients and provide evidence of early intervention strategies that could protect peritoneum health and function.

Measles outbreaks have surfaced in Europe during the last decades. Infants <12 months of age were the most severely affected pediatric population. The aim of this study was to investigate the duration of maternally derived measles antibodies in infants aged 1 to 12 months in relation to maternal humoral immune status and other parameters. In a prospective, cross-sectional cohort study, 124 mother/infant pairs and 63 additional infants were recruited from October 2015 through December 2019. Infants were hospitalized in a university pediatric department of a general hospital. Demographic and epidemiological data were recorded and blood samples were collected from mothers and their infants. Commercially available enzyme-linked immunosorbent assay (ELISA) was used for measuring measles antibodies. Fifty nine percent of mothers had vaccine-induced and 15% infection-acquired measles immunity. Eighty-eight percent and 94% of infants were unprotected by 5 and 10 months of age, respectively. Maternal antibody levels and infant age were significant independent predictors of infants’ antibody levels whereas the method of maternal immunity acquisition, age, and origin [Greek/non-Greek] were not. Our findings suggest that about 90% of infants are susceptible to measles beyond the age of 4 months. To our knowledge, these are the first data from Greece reported under the current community composition and epidemiological conditions.

Background and Objectives: Severe combined immunodeficiency (SCID) represents a group of rare and potentially fatal monogenic disorders arising from pathogenic variants in a broad spectrum of genes. Diagnostic delays beyond the first few months of life have been associated with poor overall survival and hematopoietic stem cell transplantation (HSCT) outcomes. Therefore, the aim of our study was to apply an NGS assay enabling the rapid and reliable diagnosis of SCID. Materials and Methods: We developed a targeted NGS panel of 30 genes implicated in the pathogenesis of most SCID cases and we applied it to three Greek infants with suspected SCID. Results: Each patient displayed a distinct immunophenotype—T⁻B⁻NK⁻, T⁻B⁻NK⁺ and T⁻B⁺NK⁻, respectively—and was found to harbor pathogenic or likely pathogenic variants in the analyzed SCID-related genes. In particular, patient 1 carried two heterozygous ADA variants (c.58G>A, p.Gly20Arg and c.956_960del, p.Glu319Glyfs); patient 2 harbored two discrete pathogenic variants in the DCLRE1C gene (a large deletion of exons 1–3 and the nonsense mutation c.241C>T, p.Arg81*), causing Artemis deficiency; and patient 3 carried a hemizygous IL2RG missense variant (c.437T>C, p.Leu146Pro), associated with X-linked SCID. All variants were confirmed by Sanger sequencing. Conclusions: Our method successfully identified the underlying genetic defects in all patients, thereby establishing a molecular diagnosis of SCID. These findings highlight the potential of targeted NGS assays for achieving rapid and accurate molecular diagnosis of SCID, which is crucial for the timely treatment of life-threatening conditions in affected children.