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Long-term renal outcome in children with OCRL mutations : Retrospective analysis of a large international cohort

Background. Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies. Methods. Retrospective analyses were conducted of clinical and ge

Internal tandem duplication mutations in the tyrosine kinase domain of FLT3 display a higher oncogenic potential than the activation loop D835Y mutation

Acute myeloid leukemia (AML) remains the most common form of acute leukemia among adults and accounts for a large number of leukemia-related deaths. Mutations in FMS-like tyrosine kinase 3 (FLT3) is one of the most prevalent findings in this heterogeneous disease. The major types of mutations in FLT3 can be categorized as internal tandem duplications (ITD) and point mutations. Recent studies sugge

Signals of sedentism : Faunal exploitation as evidence of a delayed-return economy at Norje Sunnansund, an Early Mesolithic site in south-eastern Sweden

Delayed-return foraging strategies connected with a sedentary lifestyle are known from Late Mesolithic Scandinavian settlements. However, recent evidence from the archaeological site of Norje Sunnansund, in south-eastern Sweden, indicates the presence of sedentism from the Early Mesolithic. By analyzing the faunal assemblage from Norje Sunnansund, patterns of delayed-return strategies were examine

A modern calamity – Robert Musil on stupidity

Den österrikiske författaren och essäisten Robert Musil förser sociologin med väsentliga reflektioner och problemställningar. Musil för fram diskussioner som överskrider konventionella förståelser av moderniteten – sociologins generella analysobjekt. Artikeln fokuserar på två grundläggande kluster av frågor och begrepp i Musils arbete: människans gestaltlöshet och förhållandet mellan förnuft och kThe writings of the Austrian novelist and essayist Robert Musil provide sociology with vital problems and reflections. Indeed, Musil introduces discussions that extend conventional understanding of modernity – sociology’s general object of analysis. The article focuses on two major sets of questions in Musil’s work: the shapelessness of man and the relation between reason and sentiments. Both prob

Femtosecond laser–assisted cataract surgeries reported to the European Registry of Quality Outcomes for Cataract and Refractive Surgery : Baseline characteristics, surgical procedure, and outcomes

Purpose To describe a large cohort of femtosecond laser–assisted cataract surgeries in terms of baseline characteristics and the related outcomes. Setting Eighteen cataract surgery clinics in 9 European countries and Australia. Design Prospective multicenter case series. Methods Data on consecutive eyes having femtosecond laser–assisted cataract surgery in the participating clinics were entered in

Function and evolution of DNA methylation in Nasonia vitripennis

The parasitoid wasp Nasonia vitripennis is an emerging genetic model for functional analysis of DNA methylation. Here, we characterize genome-wide methylation at a base-pair resolution, and compare these results to gene expression across five developmental stages and to methylation patterns reported in other insects. An accurate assessment of DNA methylation across the genome is accomplished using

Uncertainty and the Great Slump

This paper investigates the impact of economic policy uncertainty on the Britishinterwar economy. A new index constructed from contemporary newspapersindicates that this was a period of great uncertainty. Time series and narrativeevidence suggests that this uncertainty reduced output, raised unemployment andcontributed to macroeconomic volatility.