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

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

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

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

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

PurposeMonoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone

The purpose of this thesis is to evaluate and deduce the varied lifeways of Early Holocene foragers in southern Scandinavia. By taking an interdisciplinary approach, zooarchaeological data have been applied to the study of different aspects of Early and Middle Mesolithic subsistence, in order to frame a discussion concerning our current understanding of culture and life in early north European soc

Rapid and accurate drug susceptibility testing (DST) is essential for the treatment of multi- and extensively drug-resistant tuberculosis (M/XDR-TB). We compared the utility of genotypic DST assays with phenotypic DST (pDST) using Bactec 960 MGIT or Löwenstein-Jensen to construct M/XDR-TB treatment regimens for a cohort of 25 consecutive M/XDR-TB patients and 15 possible anti-TB drugs. Genotypic D

Purpose: In Parkinson’s disease (PD), pathological microstructural changes occur that may be detected using diffusion magnetic resonance imaging (dMRI). However, there are few longitudinal studies that explore the effect of disease progression on diffusion indices. Methods: We prospectively included 76 patients with PD and 38 healthy controls (HC), all of whom underwent diffusion kurtosis imaging

Background: To the best of our knowledge, no empirically based consensus has been reached as to if, and to what extent, persons with hearing loss (HL) have reduced generic Quality of life (QoL). There seems to be limited knowledge regarding to what extent a hearing aid (HA) would improve QoL. The main aim of the present study was to review studies about the relationship between HL and QoL. A suppo

A full-thickness biopsy of the bowel wall is required to evaluate the enteric nervous system. A patient with aggravating gastrointestinal symptoms underwent a laparoscopic full-thickness biopsy of the ileum and, 1 year later, an endoscopic full-thickness biopsy of the sigmoid colon. Both samples showed enteric neuropathy characterized by vacuolated and enlarged neurons. The length of the myenteric

Background/objectives: Studies on the health effects of whole grains typically use self-reported intakes which are prone to large measurement errors. Dietary biomarkers that can provide an objective measure of intake are needed. New alkylresorcinol (AR) metabolites (3,5-dihydroxycinnamic acid (DHCA), 2-(3,5-dihydroxybenzamido)acetic acid (DHBA-glycine) and 5-(3,5-dihydroxyphenyl) pentanoic acid (D

Background: Mortality in patients with acute myocardial infarction (AMI) has improved substantially with modern therapy including percutaneous coronary interventions (PCI) but remains high in certain subgroups such as patients presenting with overt cardiogenic shock. However, the risk for AMI in patients presenting acutely with signs of heart failure but without cardiogenic shock is less well desc

Induced neurons (iNs), the product of somatic cells directly converted to neurons, are a way to obtain patient-derived neurons from tissue thatis easily accessible. Through this route, mature neurons can be obtained in a matter of a few weeks. Here, we describe a straightforward andrapid one-step protocol to obtain iNs from dermal fibroblasts obtained through biopsy samples from adult human donors