Dilemmas when talking about Huntington's disease: A qualitative study of offspring and caregiver experiences in Norway.

Research provides a compelling list of reasons why offspring should be included in honest conversations about disease when the disease affects their caregivers. Despite this, we lack in-depth knowledge about how families affected by the severe and complex genetic condition Huntington's disease (HD) experience talking about the many aspects of how this disease affects their lives. This study aimed to provide an in-depth exploration of how offspring with a caregiver with HD and caregivers with a partner with HD experienced talking about disease throughout childhood.

Protein Tyrosine Phosphatase Receptor Type G (PTPRG) Controls Fibroblast Growth Factor Receptor (FGFR) 1 Activity and Influences Sensitivity to FGFR Kinase Inhibitors.

Recently, FGFR1 was found to be overexpressed in osteosarcoma and represents an important target for precision medicine. However, because targeted cancer therapy based on FGFR inhibitors has so far been less efficient than expected, a detailed understanding of the target is important. We have here applied proximity-dependent biotin labeling combined with label-free quantitative mass spectrometry to identify determinants of FGFR1 activity in an osteosarcoma cell line.

Factors associated with trace evidence analyses and DNA findings among police reported cases of rape.

Objective: The aim of this study was to examine the association between victim, suspect and assault characteristics and (1) forensic analysis of trace evidence, (2) detection of spermatozoa and (3) DNA match in police-reported cases of rape/attempted rape. In addition, we explored whether DNA findings were associated with legal outcome.

Methods: We conducted a retrospective, descriptive study based on police-reported rapes and attempted rapes of women  ≥16 years of age in Sør-Trøndelag Police District throughout 1997-2010.

Prescribing of NOACs has outnumbered warfarin: exploring how physicians choose anticoagulant treatments.

Purpose: The development of non-vitamin K-dependent oral anticoagulants (NOACs) is a new alternative to treatment with warfarin. The purpose of this study was to explore drug prescription decisions of NOACs or warfarin from hospital physicians in cardiovascular departments.

Methods: A qualitative study with focus group interviews was conducted in three different hospitals.

The effectiveness of surgical interventions for women with FGM/C: a systematic review.

Background: Female genital mutilation/cutting (FGM/C) changes normal genital functionality and can cause complications. There is an increasing demand for treatment of FGM/C-related complications.

Objectives: We conducted a systematic review of empirical quantitative research on the outcomes of interventions for women with FGM/C-related complications.

Reasons for and Experiences With Surgical Interventions for Female Genital Mutilation/Cutting (FGM/C): A Systematic Review.

Background: Because female genital mutilation/cutting (FGM/C) leads to changes in normal genital anatomy and functionality, women are increasingly seeking surgical interventions for their FGM/C-related concerns.

Aim: To conduct a systematic review of empirical quantitative and qualitative research on interventions for women with FGM/C-related complications.

Methods: We conducted systematic searches up to May 2016 in 16 databases to obtain references from different disciplines.

A tool for integrating genetic and mass spectrometry-based peptide data: Proteogenomics Viewer: PV: A genome browser-like tool, which includes MS data visualization and peptide identification parameters.

In this manuscript we describe Proteogenomics Viewer, a web-based tool that collects MS peptide identification, indexes to genomic sequence and structure, assigns exon usage, reports the identified protein isoforms with genomic alignments and, most importantly, allows the inspection of MS2 information for proper peptide identification. It also provides all performed indexing to facilitate global analysis of the data. The relevance of such tool is that there has been an increase in the number of proteogenomic efforts to improve the annotation of both genomics and proteomics data, culminating with the release of the two human proteome drafts.

Practical planning to maintain premature infants' safety during magnetic resonance imaging: a systematic review.

Background: Magnetic resonance imaging (MRI) makes a significant contribution to diagnose brain injury in premature infants and is a diagnostic procedure that requires the infant to be taken out of the controlled environment established for growth and development. To ensure safe procedures for these vulnerable patients, practical planning and surveillance are paramount.

Purpose: This systematic review summarizes and evaluates the literature reporting on practical planning to maintain required safety for premature infants undergoing MRI.

Identification of rare alternative splicing events in MS/MS data reveals a significant fraction of alternative translation initiation sites.

Integration of transcriptome data is a crucial step for the identification of rare protein variants in mass-spectrometry (MS) data with important consequences for all branches of biotechnology research. Here, we used Splooce, a database of splicing variants recently developed by us, to search MS data derived from a variety of human tumor cell lines. More than 800 new protein variants were identified whose corresponding MS spectra were specific to protein entries from Splooce.

The matricellular "cysteine-rich protein 61" is released from activated platelets and increased in the circulation during experimentally induced sepsis.

Sepsis and sepsis-induced organ dysfunction remain lethal and common conditions among intensive care patients. Accumulating evidence suggests that the matricellular Cyr61/CCN1 (cysteine-rich, angiogenic-inducer, 61) protein is involved in the regulation of inflammatory responses and possesses organ-protective capabilities in diseases of an inflammatory etiology. However, its regulation in sepsis remains largely unexplored.

Effect of high-intensity interval training on progression of cardiac allograft vasculopathy.

Background: Cardiac allograft vasculopathy (CAV) is a progressive form of atherosclerosis occurring in heart transplant (HTx) recipients, leading to increased morbidity and mortality. Given the atheroprotective effect of exercise on traditional atherosclerosis, we hypothesized that high-intensity interval training (HIIT) would reduce the progression of CAV among HTx recipients.

Methods: Forty-three cardiac allograft recipients (mean ± SD age 51 ± 16 years; 67% men; time post-HTx 4.

High-intensity interval training improves peak oxygen uptake and muscular exercise capacity in heart transplant recipients.

Heart transplant (HTx) recipients usually have reduced exercise capacity with reported VO(2peak) levels of 50-70% predicted value. Our hypothesis was that high-intensity interval training (HIIT) is an applicable and safe form of exercise in HTx recipients and that it would markedly improve VO(2peak.) Secondarily, we wanted to evaluate central and peripheral mechanisms behind a potential VO(2peak) increase.

Muscular exercise capacity and body fat predict VO(2peak) in heart transplant recipients.

Background: Heart transplant (HTx) recipients usually have reduced exercise capacity, with reported VO2peak levels of 50-70% of predicted values. This study aimed to evaluate central and peripheral factors predictive of VO2peak.

Methods And Results: Fifty-one clinically stable HTx recipients >18 years old and 1-8 years after HTx, underwent maximal exercise testing on a treadmill.

The Schizosaccharomyces pombe AlkB homolog Abh1 exhibits AP lyase activity but no demethylase activity.

2-Oxoglutarate (2OG) and iron (Fe(II)) dependent dioxygenases catalyze a wide range of biological oxidations, including hydroxylation and demethylation of proteins and nucleic acids. AlkB from Escherichia coli directly reverses certain methyl lesions in DNA, and defines a subfamily of 2OG/Fe(II) dioxygenases that has so far been shown to be involved in both nucleic acid repair and modification. The human genome encodes nine AlkB homologs and the function of most of these is still unknown.

AP endonuclease independent repair of abasic sites in Schizosaccharomyces pombe.

Abasic (AP) sites are formed spontaneously and are inevitably intermediates during base excision repair of DNA base damages. AP sites are both mutagenic and cytotoxic and key enzymes for their removal are AP endonucleases. However, AP endonuclease independent repair initiated by DNA glycosylases performing β,δ-elimination cleavage of the AP sites has been described in mammalian cells.

Schizosaccharomyces pombe Ofd2 is a nuclear 2-oxoglutarate and iron dependent dioxygenase interacting with histones.

2-Oxoglutarate (2OG) dependent dioxygenases are ubiquitous iron containing enzymes that couple substrate oxidation to the conversion of 2OG to succinate and carbon dioxide. They participate in a wide range of biological processes including collagen biosynthesis, fatty acid metabolism, hypoxic sensing and demethylation of nucleic acids and histones. Although substantial progress has been made in elucidating their function, the role of many 2OG dioxygenases remains enigmatic.

Chronotropic responses to exercise in heart transplant recipients: 1-yr follow-up.

Objective: Partial normalization of the heart rate (HR) response can take place some time after heart transplantation (HTx), but the extent to which this occurs, its time course, and functional significance remain unclear.

Design: Seventy-seven heart transplantation patients underwent an exercise test at approximately 1, 6, and 12 mos after heart transplantation, consisting of a resting period, a submaximal exercise test, and a maximal exercise test with stair climbing, followed by a recovery period. An HR monitor was used for continuous surveillance of HR.

Schizosaccharomyces pombe encodes a mutated AP endonuclease 1.

Mutagenic and cytotoxic apurinic/apyrimidinic (AP) sites are among the most frequent lesions in DNA. Repair of AP sites is initiated by AP endonucleases and most organisms possess two or more of these enzymes. Saccharomyces cerevisiae has AP endonuclease 1 (Apn1) as the major enzymatic activity with AP endonuclease 2 (Apn2) being an important backup.