International Patient Summary Terminology.

SNOMED CT is a comprehensive medical ontology used in health care sectors across the world covering a wide range of concepts that support diversity at the point of healthcare. However, not all these concepts are needed for every use case; it is better to concentrate on those parts that apply to the particular application while preserving the meaning of relevant concepts. This paper considers the application of a novel subontology extraction method to create a new resource, called the IPS terminology, which functions as a standalone ontology with the same features as SNOMED CT, but is designed for cross-border patient care.

Immunodeficiency is prevalent in congenital heart disease and associated with increased risk of emergency admissions and death.

Aims: To provide population-based data on the prevalence and clinical significance of immune deficiency syndromes (IDS) associated with congenital heart disease (CHD).

Methods And Results: Utilizing administrative German Health System data the prevalence of increased susceptibility to infection (ISI) or confirmed IDS was assessed in CHD patients and compared with an age-matched non-congenital control group. Furthermore, the prognostic significance of IDS was assessed using all-cause mortality and freedom from emergency hospital admission.

Palliative care on the radiation oncology ward-improvements in clinical care through interdisciplinary ward rounds.

Introduction: Palliative care is essential for patients with terminal diseases and aims at effective symptom control. This may stand in opposition to radiation treatment as an oncological treatment modality. The hereby presented work demonstrates the successful integration of a palliative care service in the radiation oncology ward.

Maternal and neonatal complications in women with congenital heart disease: a nationwide analysis.

Aims: The aim of this study was to provide population-based data on maternal and neonatal complications and outcome in the pregnancies of women with congenital heart disease (CHD).

Methods And Results: Based on administrative data from one of the largest German Health Insurance Companies (BARMER GEK, ∼9 million members representative for Germany), all pregnancies in women with CHD between 2005 and 2018 were analysed. In addition, an age-matched non-CHD control group was included for comparison and the association between adult CHD (ACHD) and maternal or neonatal outcomes investigated.

Lack of specialist care is associated with increased morbidity and mortality in adult congenital heart disease: a population-based study.

Aims: The aim of this study was to provide population-based data on the healthcare provision for adults with congenital heart disease (ACHD) and the impact of cardiology care on morbidity and mortality in this vulnerable population.

Methods And Results: Based on administrative data from one of the largest German Health Insurance Companies, all insured ACHD patients (<70 years of age) were included. Patients were stratified into those followed exclusively by primary care physicians (PCPs) and those with additional cardiology follow-up between 2014 and 2016.

Unlocking big data doubled the accuracy in predicting the grain yield in hybrid wheat.

The potential of big data to support businesses has been demonstrated in financial services, manufacturing, and telecommunications. Here, we report on efforts to enter a new data era in plant breeding by collecting genomic and phenotypic information from 12,858 wheat genotypes representing 6575 single-cross hybrids and 6283 inbred lines that were evaluated in six experimental series for yield in field trials encompassing ~125,000 plots. Integrating data resulted in twofold higher prediction ability compared with cases in which hybrid performance was predicted across individual experimental series.

Mortality and morbidity in patients with congenital heart disease hospitalised for viral pneumonia.

Objectives: Data on the clinical outcome of patients with congenital heart disease (CHD) affected by severe viral pneumonia are limited. We analysed morbidity and mortality of viral pneumonia and evaluated the association between medical conditions, medication, vaccination and outcome specifically in patients with CHD requiring hospitalisation for viral pneumonia.

Methods: Based on data from one of Germany's largest health insurers, all cases of viral pneumonia requiring hospital admission (2005-2018) were studied.

Selecting Closely-Linked SNPs Based on Local Epistatic Effects for Haplotype Construction Improves Power of Association Mapping.

Genome-wide association studies (GWAS) have gained central importance for the identification of candidate loci underlying complex traits. Single nucleotide polymorphism (SNP) markers are mostly used as genetic variants for the analysis of genotype-phenotype associations in populations, but closely linked SNPs that are grouped into haplotypes are also exploited. The benefit of haplotype-based GWAS approaches SNP-based approaches is still under debate because SNPs in high linkage disequilibrium provide redundant information.

Reinterpreting Dependency Schemes: Soundness Meets Incompleteness in DQBF.

Dependency quantified Boolean formulas (DQBF) and QBF dependency schemes have been treated separately in the literature, even though both treatments extend QBF by replacing the linear order of the quantifier prefix with a partial order. We propose to merge the two, by reinterpreting a dependency scheme as a mapping from QBF into DQBF. Our approach offers a fresh insight on the nature of soundness in proof systems for QBF with dependency schemes, in which a natural property called 'full exhibition' is central.

Haplotype-Based Genome-Wide Prediction Models Exploit Local Epistatic Interactions Among Markers.

Genome-wide prediction approaches represent versatile tools for the analysis and prediction of complex traits. Mostly they rely on marker-based information, but scenarios have been reported in which models capitalizing on closely-linked markers that were combined into haplotypes outperformed marker-based models. Detailed comparisons were undertaken to reveal under which circumstances haplotype-based genome-wide prediction models are superior to marker-based models.

A quantitative genetic framework highlights the role of epistatic effects for grain-yield heterosis in bread wheat.

Increasing wheat yield is a key global challenge to producing sufficient food for a growing human population. Wheat grain yield can be boosted by exploiting heterosis, the superior performance of hybrids compared with midparents. Here we present a tailored quantitative genetic framework to study the genetic basis of midparent heterosis in hybrid populations derived from crosses among diverse parents.

Extracting genotype information of Arabidopsis thaliana recombinant inbred lines from transcript profiles established with high-density oligonucleotide arrays.

Polymorphic probes identified via a sequence-based approach are suitable to infer the genotypes of recombinant inbred lines from hybridisation intensities of GeneChip transcript profiling experiments. The sequences of the probes of the ATH1 GeneChip exactly match transcript sequences of the Arabidopsis thaliana reference genome Col-0, whereas nucleotide differences and/or insertions/deletions may be observed for transcripts of other A. thaliana accessions.

Tailoring high-density oligonucleotide arrays for transcript profiling of different Arabidopsis thaliana accessions using a sequence-based approach.

Excluding polymorphic probes from GeneChip transcript profiling experiments via a sequence-based approach results in improved detection of differentially expressed genes in developing seeds of Arabidopsis thaliana accessions Col-0 and C24. GeneChip arrays represent a powerful tool for transcript profiling experiments. The ATH1 GeneChip has been designed based on the sequence of the Arabidopsis thaliana reference genome Col-0, hence the features on the array exactly match the sequences of Col-0 transcripts.

Genetic dissection of metabolite variation in Arabidopsis seeds: evidence for mQTL hotspots and a master regulatory locus of seed metabolism.

To gain insight into genetic factors controlling seed metabolic composition and its relationship to major seed properties, an Arabidopsis recombinant inbred line (RIL) population, derived from accessions Col-0 and C24, was studied using an MS-based metabolic profiling approach. Relative intensities of 311 polar primary metabolites were used to identify associated genomic loci and to elucidate their interactions by quantitative trait locus (QTL) mapping. A total of 786 metabolic QTLs (mQTLs) were unequally distributed across the genome, forming several hotspots.

Risk of Pregnancy in Moderate and Severe Aortic Stenosis: From the Multinational ROPAC Registry.

Background: Controversial results on maternal risk and fetal outcome have been reported in women with aortic stenosis (AS).

Objectives: The authors sought to investigate maternal and fetal outcomes in patients with AS in a large cohort.

Methods: The Registry on Pregnancy and Cardiac Disease (ROPAC) is a global, prospective observational registry of women with structural heart disease, providing a uniquely large study population.

Chromosome identification for the carnivorous plant Genlisea margaretae.

Genlisea margaretae, subgenus Genlisea, section Recurvatae (184 Mbp/1C), belongs to a plant genus with a 25-fold genome size difference and an extreme genome plasticity. Its 19 chromosome pairs could be distinguished individually by an approach combining optimized probe pooling and consecutive rounds of multicolor fluorescence in situ hybridization (mcFISH) with bacterial artificial chromosomes (BACs) selected for repeat-free inserts. Fifty-one BACs were assigned to 18 chromosome pairs.

Selective Irreversible Inhibition of Neuronal and Inducible Nitric-oxide Synthase in the Combined Presence of Hydrogen Sulfide and Nitric Oxide.

Citrulline formation by both human neuronal nitric-oxide synthase (nNOS) and mouse macrophage inducible NOS was inhibited by the hydrogen sulfide (H2S) donor Na2S with IC50 values of ∼2.4·10(-5) and ∼7.9·10(-5) m, respectively, whereas human endothelial NOS was hardly affected at all.

Aerobic nitric oxide-induced thiol nitrosation in the presence and absence of magnesium cations.

Although different routes for the S-nitrosation of cysteinyl residues have been proposed, the main in vivo pathway is unknown. We recently demonstrated that direct (as opposed to autoxidation-mediated) aerobic nitrosation of glutathione is surprisingly efficient, especially in the presence of Mg(2+). In the present study we investigated this reaction in greater detail.

Intergenomic single nucleotide polymorphisms as a tool for bacterial artificial chromosome contig building of homoeologous Brassica napus regions.

Background: Homoeologous sequences pose a particular challenge if bacterial artificial chromosome (BAC) contigs shall be established for specific regions of an allopolyploid genome. Single nucleotide polymorphisms (SNPs) differentiating between homoeologous genomes (intergenomic SNPs) may represent a suitable screening tool for such purposes, since they do not only identify homoeologous sequences but also differentiate between them.

Results: Sequence alignments between Brassica rapa (AA) and Brassica oleracea (CC) sequences mapping to corresponding regions on chromosomes A1 and C1, respectively were used to identify single nucleotide polymorphisms between the A and C genomes.

Combining C-arm CT with a new remote operated positioning and guidance system for guidance of minimally invasive spine interventions.

Objective: To report our experience using C-arm cone beam CT (C-arm CBCT) combined with the new remote operated positioning and guidance system, iSYS1, for needle guidance during spinal interventions.

Methods: A C-arm CBCT with a flat panel angiography system was acquired (Artis Zeego; Siemens Healthcare Sector, Forchheim, Germany). Reconstruction of CT-like images and planning of the needle path were performed using a common workstation.

Interaction between neuronal nitric-oxide synthase and tetrahydrobiopterin revisited: studies on the nature and mechanism of tight pterin binding.

Recombinant neuronal nitric-oxide synthase (nNOS) expressed in baculovirus-infected Sf9 cells contains approximately 1 equiv of tightly bound tetrahydrobiopterin (BH4) per dimer and binds a second equivalent with a dissociation constant in the 10(-7)-10(-6) M range. Less is known about the pterin-binding properties of nNOS originating from expression systems such as Escherichia coli that do not produce BH4. We determined the binding properties of E.

Value of speckle-tracking echocardiography and MRI-based feature tracking analysis in adult patients after Fontan-type palliation.

Background: Patients are commonly affected by ventricular dysfunction and heart failure after Fontan palliation. Reliable quantification of ventricular function is of interest but hampered by complex ventricular anatomy and physiology.

Objectives: We aimed to assess myocardial function using a novel cardiac magnetic resonance imaging (CMR)-based feature-tracking (FT) technique and to study its clinical utility in Fontan patients.

Screening of a Brassica napus bacterial artificial chromosome library using highly parallel single nucleotide polymorphism assays.

Background: Efficient screening of bacterial artificial chromosome (BAC) libraries with polymerase chain reaction (PCR)-based markers is feasible provided that a multidimensional pooling strategy is implemented. Single nucleotide polymorphisms (SNPs) can be screened in multiplexed format, therefore this marker type lends itself particularly well for medium- to high-throughput applications. Combining the power of multiplex-PCR assays with a multidimensional pooling system may prove to be especially challenging in a polyploid genome.