Use of a mobile application for self-management of pancreatic enzyme replacement therapy is associated with improved gastro-intestinal related quality of life in children with Cystic Fibrosis.

Background: Most patients with cystic fibrosis (CF) suffer from pancreatic insufficiency (PI), leading to fat malabsorption, malnutrition, abdominal discomfort and impaired growth. Pancreatic enzyme replacement therapy (PERT) is effective, but evidence based guidelines for dose adjustment are lacking. A mobile app for self-management of PERT was developed in the context of the HORIZON 2020 project MyCyFAPP.

Monoacylglycerol Form of Omega-3s Improves Its Bioavailability in Humans Compared to Other Forms.

Numerous benefits are attributed to omega-3 fatty acids (OM3) especially in cardiovascular health. However, bioavailability and clinical efficacy depend on numerous factors, including OM3 form, food matrix effects (especially the lipid content of the diet), and metabolic capacity. Here, we show in humans that a "pre-digested" OM3--1(3)-monoacylglycerol lipid structure (OM3-MAG) has a significantly greater absorption at high therapeutic doses (2.

Digital DNA microarray generation on glass substrates.

In this work we show how DNA microarrays can be produced batch wise on standard microscope slides in a fast, easy, reliable and cost-efficient way. Contrary to classical microarray generation, the microarrays are generated via digital solid phase PCR. We have developed a cavity-chip system made of a PDMS/aluminum composite which allows such a solid phase PCR in a scalable and easy to handle manner.

Emerging trends in cardiovascular research: HFpEF in the spotlight. A bibliometric analysis of the years 2009-2016.

Introduction: Up to 50% of patients suffering from acute decompensated heart failure show normal or slightly reduced left ventricular ejection fraction (LVEF). This syndrome, which is known as heart failure with preserved ejection fraction (HFpEF) is associated with increasing age. Epidemiological studies could portrait an increasing importance and an even emerging prevalence in the past decades.

Enhancer occlusion transcripts regulate the activity of human enhancer domains via transcriptional interference: a computational perspective.

Analysis of ENCODE long RNA-Seq and ChIP-seq (Chromatin Immunoprecipitation Sequencing) datasets for HepG2 and HeLa cell lines uncovered 1647 and 1958 transcripts that interfere with transcription factor binding to human enhancer domains. TFBSs (Transcription Factor Binding Sites) intersected by these 'Enhancer Occlusion Transcripts' (EOTrs) displayed significantly lower relative transcription factor (TF) binding affinities compared to TFBSs for the same TF devoid of EOTrs. Expression of most EOTrs was regulated in a cell line specific manner; analysis for the same TFBSs across cell lines, i.

Conformation-specific inhibitors of activated Ras GTPases reveal limited Ras dependency of patient-derived cancer organoids.

The small GTPases H, K, and NRAS are molecular switches indispensable for proper regulation of cellular proliferation and growth. Several mutations in the genes encoding members of this protein family are associated with cancer and result in aberrant activation of signaling processes caused by a deregulated recruitment of downstream effector proteins. In this study, we engineered variants of the Ras-binding domain (RBD) of the C-Raf proto-oncogene, Ser/Thr kinase (CRAF).

Antibody response against Pseudomonas aeruginosa and its relationship with immune mediators in the upper and lower airways of cystic fibrosis patients.

Background: The upper airways (UAW) are a niche and a reservoir of Pseudomonas aeruginosa strains that cause chronic infection of the lower airways (LAW) in cystic fibrosis (CF). Here, we assessed the role of anti-P. aeruginosa immunoglobulin A (IgA) and IgG antibodies in upper and lower airway infections in cystic fibrosis patients.

Rapid detection of porcine DNA in processed food samples using a streamlined DNA extraction method combined with the SYBR Green real-time PCR assay.

A specialized DNA extraction method and a SYBR Green quantitative polymerase chain reaction (SyG-qPCR) assay were combined to generate a ready-to-use kit for rapid detection of porcine admixtures in processed meat products. Our qPCR assay utilized repetitive LINE-1 elements specific to the genome of Sus scrofa domesticus (pig) as a target and incorporated internal controls. We improved the genomic DNA extraction method, and reduced extraction times to the minimum.

Patient-reported outcomes in patients with cystic fibrosis with a G551D mutation on ivacaftor treatment: results from a cross-sectional study.

Background: Clinical studies demonstrate that ivacaftor (IVA) improves health-related quality of life (HRQoL) in patients aged ≥6 years with cystic fibrosis (CF). The real-world impact of IVA and standard of care (SOC) in groups of patients with G551D and F508del mutations, respectively, was assessed using a survey comprising disease-specific and generic HRQoL measures.

Methods: Patients with CF aged ≥12 years, or aged 6-11 years with caregiver support, with either (1) a G551D mutation and receiving IVA (G551D/IVA) for ≥3 months, or (2) homozygous for F508del and receiving SOC before lumacaftor/IVA availability (F508del/SOC), were eligible to participate in a cross-sectional survey.

A universal approach to investigate circRNA protein coding function.

Circular RNAs (circRNAs) are an emerging class of RNA molecules that have been linked to human diseases and important regulatory pathways. Their functional roles are still under investigation, often hampered by inefficient circRNA formation in and ex vivo. We generated an intron-mediated enhancement (IME) system that-in comparison to previously published methods-increases circRNA formation up to 5-fold.

Technical aspects of a successful transvascular retrieval of an acutely dislodged WaveCrest® left atrial appendage occluder.

Percutaneous left atrial appendage (LAA) closure is an alternative therapy in patients with atrial fibrillation who are not suitable for anticoagulation. However, device embolization is one of the notable complications which inevitably requires catheter or surgical retrieval. In addition to previously reported Watchman® or AMULET® occluder embolization, here we report the first case of a WaveCrest® occluder dislodgement which was successfully removed by transcatheter technique.

Potential mechanisms of endothelialisation in individuals implanted with a leadless pacemaker systems: An experimental in vitro study.

Background: Leadless pacemaker technology is a promising upcoming field in clinical rhythmology. Today, the most commonly used system in the clinical setting is the Micra™ leadless pacemaker system (Medtronic). In autopsies of patients who witnessed non-pacemaker associated death, unexpected ingrowth/encapsulation within the wall of the right ventricle was reported.

Degree of valve calcification in patients undergoing transfemoral transcatheter aortic valve implantation with and without balloon aortic valvuloplasty: Findings from the multicenter EASE-IT TF registry.

Aims: We aimed to assess whether the level of aortic root calcification is associated with BAV performance/omission during transcatheter aortic valve implantation (TAVI), and to explore related outcomes.

Methods And Results: EASE-IT TF was a prospective, observational, multicenter registry of patients undergoing TF-TAVI with the Edwards SAPIEN 3, with or without BAV predilation. Valvular calcification was quantified from pre-procedural multi-slice computed tomography images and compared between BAV and no BAV patients.

Ectopic expression of Snord115 in choroid plexus interferes with editing but not splicing of 5-Ht2c receptor pre-mRNA in mice.

Serotonin 5-HT2C receptor is a G-protein coupled excitatory receptor that regulates several biochemical pathways and has been implicated in obesity, mental state, sleep cycles, autism, neuropsychiatric disorders and neurodegenerative diseases. The activity of 5-HT2CR is regulated via alternative splicing and A to I editing of exon Vb of its pre-mRNA. Snord115 is a small nucleolar RNA that is expressed in mouse neurons and displays an 18-nucleotide base complementary to exon Vb of 5-HT2CR pre-mRNA.

Exaptation at the molecular genetic level.

The realization that body parts of animals and plants can be recruited or coopted for novel functions dates back to, or even predates the observations of Darwin. S.J.

Laparoscopic repositioning of a dislocated pacemaker into the rectovesical pouch.

Dislocation of the epicardial pacemaker into the peritoneal cavity is an uncommon but potentially life-threatening complication. We report a case of a 74 year old with an abdominally implanted epicardial pacemaker that migrated through the peritoneum to the excavatio rectovesicalis. The laparoscopic approach was chosen because of the increased risks of perioperative morbidity and decreased survival.

Biased perspectives on formyl peptide receptors.

The innate immune system is the first line of defense against pathogenic threats. For the early pathogen recognition and activation of cell protective mechanisms, germline-encoded pattern recognition receptors (PRRs) detect characteristic and evolutionary conserved pathogen-associated molecular patterns (PAMPs). PRRs are therefore key elements in the innate immune response; in addition, they sense danger-associated molecular patterns (DAMPs) that are released by host cell molecules under pathophysiological conditions.

The Volcano Rabbit in the Phylogenetic Network of Lagomorphs.

The order Lagomorpha unifies pikas (Ochotonidae) and the hares plus rabbits (Leporidae). Phylogenetic reconstructions of the species within Leporidae based on traditional morphological or molecular sequence data provide support for conflicting hypotheses. The retroposon presence/absence patterns analyzed in this study revealed strong support for the broadly accepted splitting of lagomorphs into ochotonids and leporids with Pronolagus as the first divergence in the leporid tree.

Impact of N-terminal pro-B-type natriuretic peptide response on long-term prognosis after transcatheter aortic valve implantation for severe aortic stenosis and heart failure.

N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels prior to transcatheter aortic valve implantation (TAVI) are known to be associated with outcomes of patients undergoing TAVI. However, little has been known about the NT-proBNP response after TAVI. Therefore, we aimed to clarify the role of the NT-proBNP response and identify the determinants of the NT-proBNP nonresponse among patients with severe aortic stenosis (AS) and heart failure (HF) undergoing TAVI.

Impact of Rehabilitation on Outcomes after TAVI: A Preliminary Study.

The benefit of rehabilitation in elderly patients undergoing transcatheter aortic valve implantation (TAVI) for treatment of severe aortic stenosis is unknown. The impact of declining rehabilitation programs on mortality has also not been described. In a longitudinal cohort study of 1056 patients undergoing elective TAVI between 2008 and 2016, logistic regression analysis was used to assess the relationship between treatment modality and outcome according to whether or not patients participated in a three-week rehabilitation program after TAVI.

Urinary neutrophil gelatinase-associated lipocalin-guided risk assessment for major adverse kidney events after open-heart surgery.

Aim: To assess weather doctors' clinical risk-assessment for major adverse kidney events (MAKE) and acute kidney injury (AKI) after open-heart surgery would improve when being informed about neutrophil gelatinase-associated lipocalin (NGAL) test result at ICU admission.

Patients & Methods: Clinical risk-assessment for MAKE and AKI were performed with and without providing NGAL test result and compared in an exploratory- and a validation-cohort using reclassification metrics, exemplary category-free net reclassification improvement (cfNRI).

Results: Exploratory cohort: doctors' prediction of MAKE (cfNRI = 0.

Nosip functions during vertebrate eye and cranial cartilage development.

Background: The nitric oxide synthase interacting protein (Nosip) has been associated with diverse human diseases including psychological disorders. In line, early neurogenesis of mouse and Xenopus is impaired upon Nosip deficiency. Nosip knockout mice show craniofacial defects and the down-regulation of Nosip in the mouse and Xenopus leads to microcephaly.