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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
Many workers are occupationally exposed to polycyclic aromatic hydrocarbons (PAHs), which may cause various health problems, and some PAHs are known or suspected carcinogens. PAH exposure is primarily monitored by air sampling, but contamination may also occur through dermal exposure. PAHs adsorbed to the skin can be sampled by tape-stripping, but subsequent extraction of sampling tapes in organic
In this study, the use of light sheet fluorescence microscopic imaging is demonstrated for viewing the dynamic of atomizing sprays with high contrast and resolution. The technique presents several advantages. First, liquid fluorescence gives a more faithful representation of the structure of liquid bodies, droplets, and ligaments than Mie scattering does. The reason for this is that the signal is
BACKGROUND The association between neighborhood deprivation and mortality is well established, but knowledge about whether deprivation is best assessed regionally or nationally is scarce. OBJECTIVE The present study aims to examine whether there is a difference in results when using national and county-specific neighborhood deprivation indices and whether the level of urbanization modifies the ass
Background: Left ventricular mass (LVM) is used when expressing infarct or fibrosis as a percentage of the left ventricle (LV). Quantification of LVM is interchangeably carried out in cine steady state free precession (SSFP) and delayed enhancement (DE) magnetic resonance imaging (MRI). However, these techniques may yield different LVM. Therefore, the aim of the study was to compare LVM determined
To outline further genetic mechanisms of transformation from follicular lymphoma (FL) to diffuse large B-cell lymphoma (DLBCL), we have performed whole genome array-CGH in 81 tumors from 60 patients [29 de novo DLBCL (dnDLBCL), 31 transformed DLBCL (tDLBCL), and 21 antecedent FL]. In 15 patients, paired tumor samples (primary FL and a subsequent tDLBCL) were available, among which three possessed
Mutations in the androgen receptor gene are considered as incompatible with preservation of fertility and have been suggested as a cause of male infertility. Two adult brothers, referred because of gynecomastia and hormonal levels in serum indicating androgen insensitivity (high sex hormone-binding globulin, and LH levels, despite extremely high testosterone concentration), turned out to be relati
With climate change, coastal areas are faced with unprecedented sea level rise and flooding, raising questions as to how societies will choose to adapt. One option is to strengthen existing sea walls to maintain current land uses; however, scientists, policy-makers and conservationists increasingly see the benefits of managed realignment, which is a nature-based coastal adaptation that involves th
Spectral induced polarization (SIP) measurements have been demonstrated to correlate with important parame-ters in hydrogeological and environmental investigations. Although SIP measurements were often collected in thefrequency domain (FDIP), recent developments have demonstrated the capabilities to solve for the frequency-de-pendence of the complex conductivity through measurements collected in t
BackgroundMortality among children under five remains a significant health challenge across sub-Saharan Africa. HIV/AIDS is one of the leading contributors to the relatively slow decline in under-five mortality in this region. In Tanzania, HIV prevalence among under-five children is high and 90% of all infections are due to mother-to-child transmission.ObjectivesThe study aimed to examine the asso
Study design:: Prospective cohort study with a repeated measures analysis. Objectives:: To measure the effects of the Active Rehabilitation (AR) training programme for community-dwelling individuals with spinal cord injury (SCI) in Botswana on physical independence, wheelchair mobility, self-efficacy, life satisfaction, level of physical activity and community participation. Setting:: The inaugura
Background: The current understanding of mechanisms behind migraine pain has been greatly enhanced with the recent therapies targeting calcitonin gene-related peptide and its receptor. The clinical efficacy of calcitonin gene-related peptide-blocking drugs indicates that, at least in a considerable proportion of patients, calcitonin gene-related peptide is a key molecule in migraine pain. There ar
Purpose: The purpose of this paper is to investigate how grocery retailers configure their online fulfilment centres (OFC) as they move towards an omni-channel structure and what contextual factors influence their decisions. Design/methodology/approach: An exploratory case study with three grocery retailers in the Nordic countries was conducted. The study investigates the current OFC configuration
This paper outlines an innovation-focused design research collaboration that connects New Zealand design and manufacturing industry with advanced design thinking about design for desirability, a research area pursued at AFFECT - the Centre for Affective Design Research at Massey University in Wellington (NZ). Nowadays, it’s all about offering products that are desirable; products need to appeal to
Background: Since the publication of the European League Against Rheumatism (EULAR) recommendations for the management of large vessel vasculitis (LVV) in 2009, several relevant randomised clinical trials and cohort analyses have been published, which have the potential to change clinical care and therefore supporting the need to update the original recommendations. Methods: Using EULAR standardis
Protandry, the earlier arrival of males at the breeding grounds relative to females, is common in migratory birds. However, due to difficulties in following individual birds on migration, we still lack knowledge about the spatiotemporal origin of protandry during the annual cycle, impeding our understanding of the proximate drivers of this phenomenon. Here, we use full annual cycle tracking data o
Functional recovery is markedly restricted following traumatic brain injury (TBI), partly due to myelin-associated inhibitors including Nogo-A, myelin-associated glycoprotein (MAG) and oligodendrocyte myelin glycoprotein (OMgp), that all bind to the Nogo-66 receptor-1 (NgR1). In previous studies, pharmacological neutralization of both Nogo-A and MAG improved outcome following TBI in the rat, and n
Diarrheal diseases (DD) are leading causes of disease burden, death, and disability, especially in children in low-income settings. DD can also impact a child's potential livelihood through stunted physical growth, cognitive impairment, and other sequelae. As part of the Global Burden of Disease Study, we estimated DD burden, and the burden attributable to specific risk factors and particular etio
Purpose. Testing a newly developed Swedish version of the Body Image and Relationship Scale (BIRS) for test-retest reliability, convergent validity and inter-item analysis in a Swedish context for breast cancer survivors. Methods. A Swedish BIRS version, translation involving the input of experts and breast cancer survivors, with 41 items (BIRS-S) and the Short Form 36 (SF-36) were sent to a sampl
Preclinical data suggest that chronic stress may cause cellular damage and mitochondrial dysfunction, potentially leading to the release of mitochondrial DNA (mtDNA) into the bloodstream. Major depressive disorder has been associated with an increased amount of mtDNA in leukocytes from saliva samples and blood; however, no previous studies have measured plasma levels of free-circulating mtDNA in a
