The short peritoneal equilibration test in pediatric peritoneal dialysis

The peritoneal equilibration test (PET) is the gold standard method for defining peritoneal membrane permeability and for prescribing peritoneal dialysis (PD) therapy on an individual basis. However, it is laborious, consumes nursing time, and requires many hours to be performed. Therefore, several authors have attempted to validate a short PET protocol, with controversial results. To evaluate the concordance between the 2-h (short) and 4-h (classical) peritoneal equilibrium test, a prospective observational protocol was applied in three PD centers (Mexico, Chile, and Uruguay) between July 1, 2008 and July 31 2009. PET protocol: the night prior to the test, each patient received five exchanges, 1 h each, at the same glucose concentration as previously used. Afterwards, a 2.5% glucose dialysis solution was used for a dwell time of 4 h. Exchange fill volume was 1,100 ml/m2 body surface area. The next morning, the 4-h dwell was drained, and Dianeal 2.5% was infused. Three dialysate sampl

Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans

Whole human genome sequencing initiatives help us understand population history and the basis of genetic diseases. Current data mostly focuses on Old World populations, and the information of the genomic structure of Native Americans, especially those from the Southern Cone is scant. Here we present annotation and variant discovery from high-quality complete genome sequences of a cohort of 11 Mapuche-Huilliche individuals (HUI) from Southern Chile. We found approximately 3.1 × 10 6 single nucleotide variants (SNVs) per individual and identified 403,383 (6.9%) of novel SNVs events. Analyses of large-scale genomic events detected 680 copy number variants (CNVs) and 4,514 structural variants (SVs), including 398 and 1,910 novel events, respectively. Global ancestry composition of HUI genomes revealed that the cohort represents a sample from a marginally admixed population from the Southern Cone, whose main genetic component derives from Native American ancestors. A

Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans

Abstract Whole human genome sequencing initiatives help us understand population history and the basis of genetic diseases. Current data mostly focuses on Old World populations, and the information of the genomic structure of Native Americans, especially those from the Southern Cone is scant. Here we present annotation and variant discovery from high-quality complete genome sequences of a cohort of 11 Mapuche-Huilliche individuals (HUI) from Southern Chile. We found approximately 3.1 × 106 single nucleotide variants (SNVs) per individual and identified 403,383 (6.9%) of novel SNVs events. Analyses of large-scale genomic events detected 680 copy number variants (CNVs) and 4,514 structural variants (SVs), including 398 and 1,910 novel events, respectively. Global ancestry composition of HUI genomes revealed that the cohort represents a sample from a marginally admixed population from the Southern Cone, whose main genetic component derives from Native American ancestors. Additionally, we found that HUI genomes contain variants in genes associated with 5 of the 6 leading causes of noncommunicable diseases in Chile, which may have an impact on the risk of prevalent diseases in Chilean and Amerindian populations. Our data represents a useful resource that can contribute to population-based studies and for the design of early diagnostics or prevention tools for Native and admixed Latin American populations