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Loss of heterozygosity (LOH) was analysed in 84 primary tumours from sporadic, familial and hereditary breast cancer using five microsatellite markers spanning the chromosomal region 13q12-q13 which harbours the BRCA2 breast cancer susceptibility gene, and using one other marker located within the RBI tumour-suppressor gene at 13q14. LOH at the BRCA2 region was found in 34% and at RBI in 27% of th
This paper presents the process and results of a set of studies within the ABBI EU project, with the general aim to co-design wearable technology (an audio bracelet) together with visually impaired children, starting at a young age. The authors discuss user preferences related to sounds and tactile materials and present the results of a focus group with very young visually-impaired children under
The close relationship between heart and kidney diseases was studied with respect to the ‘Shrunken pore syndrome’ that is characterized by a difference in renal filtration between cystatin C and creatinine. Patients were retrieved from the HeARt and brain failure inVESTigation trail (HARVEST) which is an ongoing study undertaken in individuals hospitalized for the diagnosis of heart failure. Ninet
Blood-brain barrier (BBB) dysfunction might be an important component of many neurodegenerative disorders. In this study, we investigated its role in dementia using large clinical cohorts. The cerebrospinal fluid (CSF)/plasma albumin ratio (Qalb), an indicator of BBB (and blood-CSF barrier) permeability, was measured in a total of 1015 individuals. The ratio was increased in patients with Alzheime
The human cortex is affected by several debilitating acute and chronic neurodegenerative disorders such as stroke, traumatic brain injury, amyotrophic lateral sclerosis and Alzheimer’s disease, which target specific types of cortical neurons. Emerging evidence indicates that stem cells and reprogrammed cells can be used to generate human cortical neurons both for cell replacement by transplantatio
Bumblebees are important pollinators for a wide range of crops and wild plants. Performance of their colonies depends on pollen and nectar as food resources, but flowering plants are scarce in modern agricultural landscapes. It is well-known that semi-natural habitats can enhance floral resources and bumblebee abundance, but the impact of different crop types and their heterogeneity at the landsca
Biomimetic sulfur-deficient indium sulfide (In2.77S4) was synthesized by a template-assisted hydrothermal method using leaves of Mimosa pudica as a template for the first time. The effect of this template in modifying the morphology of the semiconductor particles was determined by physicochemical characterization, revealing an increase in surface area, decrease in microsphere size and pore size an
Chronic airway diseases such as asthma and chronic obstructive pulmonary disease (COPD), together with their comorbidities, bear a significant burden on public health. Increased appreciation of molecular networks underlying inflammatory airway disease needs to be translated into new therapies for distinct phenotypes not controlled by current treatment regimens. On the other hand, development of ne
Implantable cardioverter-defibrillator (ICD) therapy remains a corner stone of sudden cardiac death (SCD) prevention in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). We aimed to assess predictors of appropriate ICD therapies in the Scandinavian cohort of ARVC patients who received ICD for primary prevention of SCD. Study group comprised of 79 definite ARVC patients by 2010
BACKGROUND: Nerve, nerve root and plexus disorders are common diseases, but little is known about familial clustering in these diseases. This is, to our knowledge, the first systematic family study carried out on these diseases.METHODS: Familial risks for siblings who were hospitalised for nerve, nerve root and plexus disorders in Sweden were defined. A nationwide database for neurological disease
Type 1 (T1D) and type 2 (T2D) diabetes are triggered by a combination of environmental and/or genetic factors. Maf transcription factors regulate pancreatic beta (β)-cell function, and have also been implicated in the regulation of immunomodulatory cytokines like interferon-β (IFNβ1). In this study, we assessed MAFA and MAFB co-expression with pro-inflammatory cytokine signaling genes in RNA-seq d
4MOST is a new wide-field, high-multiplex spectroscopic survey facility for the VISTA telescope of ESO. Starting in 2022, 4MOST will deploy 2400 fibres in a 4.1 square degree field-of-view using a positioner based on the tilting spine principle. In this contribution we give an outline of the major science goals we wish to achieve with 4MOST in the area of Galactic Archeology. The 4MOST Galactic Ar
A subset of genetic variants found through screening of patients with hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome impact RNA splicing. Through target enrichment of the transcriptome, it is possible to perform deep-sequencing and to identify the different and even rare mRNA isoforms. A targeted RNA-seq approach was used to analyse the naturally-occurring splicing events
Background: Less than half of patients with major depressive disorder (MDD) respond to their first antidepressant trial. Our understanding of the underlying mechanisms of selective serotonin reuptake inhibitors (SSRIs) remains poor, and there is no reliable method of predicting treatment response. Methods: Thirty-seven MDD subjects and 41 healthy controls, somatically healthy and medication-free f
Accurate histological classification and identification of fusion genes represent two cornerstones of clinical diagnostics in non-small cell lung cancer (NSCLC). Here, we present a NanoString gene expression platform and a novel platform-independent, single sample predictor (SSP) of NSCLC histology for combined, simultaneous, histological classification and fusion gene detection in minimal formali
This paper presents theory and algorithms for validation in system identification of state-space models from finite input-output sequences in a subspace model identification framework. Similar to the case of prediction-error identification, it is shown that the resulting model can be decomposed into an input-output model and a stochastic innovations model. Using the Riccati equation, we have desig
In the world we live in today, the presence and claims of crisis abound – from climate change, financial and political crisis to depression, livelihoods and personal security crisis. There is a challenge to studying crisis due to the ways in which crisis as a notion, condition and experience refers to and operates at various societal levels. Further, different kinds of crisis can overlap and inter
It is possible to visualize rapidly viral particles by electron microscopy (EM) in patient samples and in cell cultures, and characterize the particles on the basis of their size and morphology. In many instances, EM has contributed to the diagnosis of specific infectious agents. Four different types of viruses with different characteristics of particle size, capsid structure, the presence or abse
Purpose: To evaluate the potential for right ventricular reverse remodelling after pulmonary valve replacement using cardiac magnetic resonance imaging, in adults with corrected tetralogy of Fallot and severe pulmonary insufficiency. Material and methods: Ten patients with previous correction of tetralogy of Fallot with severe pulmonary ins
