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Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of germline copy number variants (CNVs) with endometrial cancer risk remains relatively unknown. We conducted a genome-wide analysis of rare CNVs overlapping gene regions in 4115 endometrial cancer cases and 17,818 controls to identify functionally relevant variants assoc
Evidence that a 1,2-dihydroxycyclohexadienide anion is stabilized by aromatic "negative hyperconjugation" is described. It complements an earlier inference of "positive" hyperconjugative aromaticity for the cyclohexadienyl cation. The anion is a reactive intermediate in the dehydration of benzene cis-1,2-dihydrodiol to phenol. Rate constants for 3-substituted benzene cis-dihydrodiols are correlate
Non-invasive prenatal tests (NIPT) to predict fetal red cell or platelet antigen status for alloimmunised women are provided for select antigens. This study reports on massively parallel sequencing (MPS) using a red cell and platelet probe panel targeting multiple nucleotide variants, plus individual identification single nucleotide polymorphisms (IISNPs). Maternal blood samples were provided from
In this study, a report is prepared on significantly low specific contact resistivity of alloyed and non-alloyed ohmic contacts fabricated on an as-grown n+-GaN layer and measured with the transfer length method. A low ρc = 8 × 10−8 Ω cm2 is extracted for the alloyed Ti/Al/Ni/Au, and ρc = 4 × 10−7 Ω cm2 for the unannealed Ti/Pd/Au. To achieve these, a highly doped n+-GaN layer with ND = 1.5 × 1019
Background: The diagnosis of monogenic obesity is burdened by frequent variants of uncertain significance (VUS). We describe our real-life approach of variant reassessment over time and we assess whether inconclusive variants are decreasing in monogenic obesity. Methods: We tested for monogenic obesity (genes: LEPR, POMC, ADCY3, PCSK1, CARTPT, SIM1, MRAP2, LEP, NTRK2, BDNF, KSR2, MAGEL2, SH2B1, MC
EU countries have committed to taking national measures to reduce the average energy use of residential buildings by 16% by 2030 and 20–22% by 2035. Each country has decided how to achieve this and which buildings to focus on. However, certain categories of residential buildings, including historical buildings but also second homes, may be exempt from these obligations. In Sweden, second homes con
OBJECTIVES: The National Board of Health and Welfare in Sweden published the national guidelines for Parkinson's Disease 2016. The aim of this study was to summarize this evidence review and development of the guidelines, focusing on the economic evaluation of device-aided therapies (deep brain stimulation, pump-based infusion of levodopa-carbidopa intestinal gel or apomorphine) for Parkinson's di
The study investigated the effects of forest residue extraction on tree growth and base cations concentrations in soil waterunder different climatic conditions in Sweden. For this purpose, the dynamic model ForSAFE was used to compare theeffects of whole-tree harvesting and stem harvesting on tree biomass and the soil solution over time at 6 different forestsites. The study confirmed the results f
The Sit-to-Stand (STS) test is used in clinical practice as an indicator of lower-limb functionality decline, especially for older adults. Due to its high variability, there is no standard approach for categorising the STS movement and recognising its motion pattern. This paper presents a comparative analysis between visual assessments and an automated-software for the categorisation of STS, relyi
This paper performs a numerical study regarding the effects of different kinds of coolants on flow and heat transfer in a pin-finned internal channel. A new pin-fin structure detached from one endwall with a round-tip is proposed which aims to increase the heat transfer enhancement. As a contrast, the investigation of the typical fully-attached pin-fin and the flat-tip detached pin-fin is also con
Type 1 diabetes is a chronic autoimmune disease requiring insulin treatment for survival. Prolonged duration of type 1 diabetes is associated with increased risk of microvascular complications. Although chronic hyperglycemia and diabetes duration have been considered as the major risk factors for vascular complications, this is not universally seen among all patients. Persons with long-term type 1
Background: Osteoporosis is an underdiagnosed and undertreated disease worldwide. Recent studies have highlighted the use of simple vertebral trabecular attenuation values for opportunistic osteoporosis screening. Meanwhile, machine learning has been used to accurately segment large parts of the human skeleton. Purpose: To evaluate a fully automated deep learning-based method for lumbar vertebral
Purpose—Ischemic myocardial contracture (IMC) or ‘‘stoneheart’’ is a condition with rapid onset following circulatory death. It inhibits transplantability of hearts donated uponcirculatory death (DCD). We investigate the effectiveness of hemodynamic normalization upon withdrawal of life-sustaining therapy (WLST) in a large-animal controlled DCD model, with the hypothesis that reduction in cardiac
Objective: Monoclonal gammopathy of undetermined significance (MGUS) is the asymptomatic precursor of multiple myeloma (MM). Lytic bone lesions and fractures are hallmarks of MM and although there are no lytic lesions in MGUS, it has also been associated with fractures. The causes of fractures in MGUS are currently unclear but potential causes include inherent MGUS bone disease, undiagnosed MM, an
To develop anion exchange membranes (AEMs) that combine high chemical stability and hydroxide conductivity, we have designed and prepared poly(arylene piperidine)s carrying tunable mono- or dicationic side chains. Poly(biphenyl piperidine) and poly(biphenyl N-methylpiperidine), respectively, were first synthesized by superacid-catalyzed polyhydroxylalkylations. Subsequently, the piperidine rings o
While a broad spectrum of technologies is integrated in everyday life and routines, most research on ageing, health and technology has focused on attitudes toward and adoption of digital technologies including e-health, or home based monitoring systems. The aim of this study was to explore differences and similarities in attitudes and experiences with different types of technologies and developmen
Rapeseed press cake (RPC), the by-product of rapeseed oil production, contains proteins with emulsifying properties, which can be used in food applications. Proteins from industrially produced RPC were extracted at pH 10.5 and precipitated at pH 3 (RPP3) and 6.5 (RPP6.5). Emulsions were formulated at three different pHs (pH 3, 4.5, and 6) with soy lecithin as control, and were stored for six month
BACKGROUND: Little is known about the costs of HIV care in Ethiopia.OBJECTIVE: To estimate the average per person year (PPY) cost of care for HIV patients with and without anti-retroviral therapy (ART) in a district hospital.METHODS: Data on costs and utilization of HIV-related services were taken from Arba Minch Hospital (AMH) in southern Ethiopia. Mean annual outpatient and inpatient costs and c
Despite advances in treatment over the last decades, subarachnoid hemorrhage (SAH) continues to carry a high burden of morbidity and mortality, largely afflicting a fairly young population. Several animal models of SAH have been developed to investigate the pathophysiological mechanisms behind SAH and to test pharmacological interventions. The pre-chiasmatic, single injection model in the rat pres
