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Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

Introduction: Case–control analyses have shown BARD1 variants to be associated with up to >2-fold increase in risk of breast cancer, and potentially greater risk of triple negative breast cancer. BARD1 is included in several gene sequencing panels currently marketed for the prediction of risk of cancer, however there are no gene-specific guidelines for the classification of BARD1 variants. We pres

Auto- and alloimmune reactivity to human islet allografts transplanted into type 1 diabetic patients

Allogeneic islet transplantation can restore an insulin-independent state in C-peptide-negative type 1 diabetic patients. We recently reported three cases of surviving islet allografts that were implanted in type 1 diabetic patients under maintenance immune suppression for a previous kidney graft. The present study compares islet graft-specific cellular auto- and alloreactivity in peripheral blood

Effects of intervention on self-efficacy and text quality in elementary school students’ narrative writing

Aim: Self-efficacy for writing is an important motivational factor and considered to predict writing performance. Self-efficacy for narrative writing has been sparsely studied, and few studies focus on the effects of writing intervention on self-efficacy. Additionally, there is a lack of validated measures of self-efficacy for elementary school students. In a previous study, we found that a traine

The S/T-Rich Motif in the DNAJB6 Chaperone Delays Polyglutamine Aggregation and the Onset of Disease in a Mouse Model

Expanded CAG repeats lead to debilitating neurodegenerative disorders characterized by aggregation of proteins with expanded polyglutamine (polyQ) tracts. The mechanism of aggregation involves primary and secondary nucleation steps. We show how a noncanonical member of the DNAJ-chaperone family, DNAJB6, inhibits the conversion of soluble polyQ peptides into amyloid fibrils, in particular by suppre

fMRI activation mapping using wavelet-based SPM (WSPM) integrated with gray-matter graphs

In many fMRI task-evoked studies, localized brain activity can be detected by GLM fitting and statistical hypothesis testing. Statistical parametric mapping (SPM) is the classical method that requires Gaussian pre-smoothing of the data. Instead, the wavelet transform provides a compact representation of activation patterns. Wavelet based SPM (WSPM) is an extension of SPM that combines wavelet proc

Estimating the harms and benefits of prostate cancer screening as used in common practice versus recommended good practice : A microsimulation screening analysis

BACKGROUND: Prostate-specific antigen (PSA) screening and concomitant treatment can be implemented in several ways. The authors investigated how the net benefit of PSA screening varies between common practice versus “good practice.”. METHODS: Microsimulation screening analysis (MISCAN) was used to evaluate the effect on quality-adjusted life-years (QALYs) if 4 recommendations were followed: limite

Transferring principles of solid-state and Laplace NMR to the field of in vivo brain MRI

Magnetic resonance imaging (MRI) is the primary method for noninvasive investigations of the human brain in health, disease, and development but yields data that are difficult to interpret whenever the millimeter-scale voxels contain multiple microscopic tissue environments with different chemical and structural properties. We propose a novel MRI framework to quantify the microscopic heterogeneity

Direct conversion from mouse fibroblasts informs the identification of hemogenic precursor cells in vivo

Definitive hematopoiesis emerges via an endothelial-to-hematopoietic transition in the aorta-gonad-mesonephros (AGM) region and placenta. We have recently demonstrated the induction of hematopoietic stem/progenitors (HSPCs) from mouse fibroblasts with a combination of transcription factors progressing through endothelial-like precursors. Here, guided by our in vitro programming experiments we anal

Insomnia in pediatric obsessive–compulsive disorder : prevalence and association with multimodal treatment outcomes in a naturalistic clinical setting

Objective: Little is known about the prevalence and impact of insomnia on clinical outcomes in youth with obsessive–compulsive disorder (OCD). This study aimed to investigate this subject. Patients/methods: A total of 193 patients from a specialist pediatric OCD clinic completed a range of diagnostic and clinical measures, including the Insomnia Severity Index (ISI). Patients scoring above a previ

The Long-Term Effects of Childhood Poverty in Adult’s SES Attainment. How Important Is the Neighborhood? (Sweden, 1947-2015)

This article studies the consequences of adult income resulting from exposure to poverty at the neighbourhood and family levels for children aged 1-17 in Southern Sweden from 1947 to 1967. We used geocoded information at the address level to identify k-neighbourhoods of various sizes and applied both relative and absolute poverty measurements, all yielding similar results. Moreover, our longitudin

Retrofocusing of Acoustic Wave Fields by Iterated Time Reversal

In the present paper an iterative time-reversal algorithm, that retrofocuses an acoustic wave field to its controllable part is established. For a fixed temporal support, i.e., transducer excitation time, the algorithm generates an optimal retrofocusing in the least-squares sense. Thus the iterative time-reversal algorithm reduces the temporal support of the excitation from the requirement of neglig

Assessing information on food packages

PurposeThe purpose of this paper is to present an experimental study which aims at assessing the potentially misleading effect of graphic elements on food packaging. The authors call these elements potentially misleading elements (PMEs) as they can give customers false expectations. They are either highlighted numerical information (30 per cent fibre, 8 per cent fat, 100 per cent natural […]) or p

Exploring ecosystem network analysis to balance resilience and performance in sustainable supply chain design

Sustainable supply chain design can be performed using optimisation strategies for minimising environmental impacts while maximising profit. It is not clear how such strategies influence the resilience of a supply chain – its ability to handle disturbances without compromising its function. This research used the ecosystem network analysis (ENA) to evaluate the resilience during the design of a su