The longitudinal use of EmPHasis-10 and CAMPHOR questionnaire health-related quality of life scores in patients with pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension.

Background: Health-related quality of life (HRQoL) is impaired in patients with pulmonary hypertension (PH). The EmPHasis-10 and CAMPHOR questionnaires are developed to evaluate HRQoL specifically in patients with PH. Data on the longitudinal use of both questionnaires are still limited.

The effect of the walk-bike on quality of life and exercise capacity in patients with idiopathic pulmonary fibrosis: a feasibility study.

Idiopathic pulmonary fibrosis (IPF) is characterized by progressive loss of pulmonary function and exercise capacity, leading to loss of quality of life and often social isolation. A new walking aid, the walk-bike, showed an improvement in exercise performance in COPD patients. Aims of this pilot study were to evaluate feasibility of a homebased walk-bike intervention study in IPF patients and to explore the effect of the walk-bike on quality of life (QoL) and exercise capacity.

Correction to: Adaptation and validation of the Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR) for the Netherlands.

Correction to:Neth Heart J 2016 https://doi.org/10.1007/s12471-016-0849-z Unfortunately the original version of this article contained Electronic Supplementary Material which should not have been published with the article due to copyright reasons.

A home monitoring program including real-time wireless home spirometry in idiopathic pulmonary fibrosis: a pilot study on experiences and barriers.

In idiopathic pulmonary fibrosis (IPF), home monitoring experiences are limited, not yet real-time available nor implemented in daily care. We evaluated feasibility and potential barriers of a new home monitoring program with real-time wireless home spirometry in IPF. Ten patients with IPF were asked to test this home monitoring program, including daily home spirometry, for four weeks.

No evidence found for an association between prednisone dose and FVC change in newly-treated pulmonary sarcoidosis.

Background: Prednisone is used as first-line therapy for pulmonary sarcoidosis. What dosing strategy has the best balance between effect and side-effects is largely unknown. We analyzed change in forced vital capacity (FVC) and weight during different prednisone doses used in daily practice for treatment naïve pulmonary sarcoidosis patients.

Effect of pirfenidone on cough in patients with idiopathic pulmonary fibrosis.

http://ow.ly/iiGu30f7Pea

Translation and validation of the King's Brief Interstitial Lung Disease (K-BILD) questionnaire in French, Italian, Swedish, and Dutch.

No disease-specific instruments exist in Dutch, French, Italian, and Swedish to measure health status in idiopathic pulmonary fibrosis (IPF) and other interstitial lung diseases (ILDs). The King's Brief Interstitial Lung Disease (K-BILD) is a 15-item validated questionnaire assessing health status in patients with ILD. The aim of this study was to translate and validate the K-BILD to French, Italian, Swedish, and Dutch versions.

[German Validation of the "King's Brief Interstitial Lung Disease (K-Bild) Health Status Questionnaire"].

Health status and quality of life are impaired in patients with interstitial lung disease (ILD). To assess these parameters in ILD patients no valid and reliable questionnaire exists in German language so far. The K-BILD questionnaire is a brief and valid tool to evaluate health status in ILD patients, with no validated German version.

Adaptation and validation of the Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR) for the Netherlands.

Background: The Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR) is the first disease-specific instrument for pulmonary arterial hypertension (PAH) to assess patient-perceived symptoms, activity limitations and quality of life. To be able to use this questionnaire in the Netherlands, the aim of the study was to translate and validate this instrument for the Dutch-speaking population.

Methods: First the CAMPHOR was translated into Dutch (by means of a bilingual and a lay panel) and field-tested by means of cognitive debriefing interviews with ten PAH patients.

Validation of the King's Sarcoidosis Questionnaire (KSQ) in a Dutch sarcoidosis population.

Background: The King's Sarcoidosis Questionnaire (KSQ) is a brief questionnaire assessing health status using five modules (General Health Status, Lung, Eyes, Skin, Medication) in patients with sarcoidosis. The KSQ was only validated in one English sarcoidosis cohort.

Objective: The aim of this study was to validate the KSQ in a Dutch sarcoidosis population.

A multi-platform flow device for microbial (co-) cultivation and microscopic analysis.

Novel microbial cultivation platforms are of increasing interest to researchers in academia and industry. The development of materials with specialized chemical and geometric properties has opened up new possibilities in the study of previously unculturable microorganisms and has facilitated the design of elegant, high-throughput experimental set-ups. Within the context of the international Genetically Engineered Machine (iGEM) competition, we set out to design, manufacture, and implement a flow device that can accommodate multiple growth platforms, that is, a silicon nitride based microsieve and a porous aluminium oxide based microdish.

Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.

Objectives: Microvillus inclusion disease (MVID) is a rare autosomal recessive enteropathy characterized by intractable diarrhea and malabsorption. Recently, various MYO5B gene mutations have been identified in patients with MVID. Interestingly, several patients with MVID showed only a MYO5B mutation in 1 allele (heterozygous) or no mutations in the MYO5B gene, illustrating the need to further functionally characterize the cell biological effects of the MYO5B mutations.

Intestinal barrier gene variants may not explain the increased levels of antigliadin antibodies, suggesting other mechanisms than altered permeability.

Various genes may influence intestinal barrier function, including MAGI2, MYO9B, and PARD3, which are associated with celiac disease. Because direct measurement of intestinal permeability is difficult, antibodies against gliadin (AGA) and Baker's yeast (anti-Saccharomyces cerevisiae antibodies [ASCA]) can be used as an indirect test. The objective of this study was to investigate whether intestinal permeability, represented by AGA, was correlated with MAGI2, MYO9B, and PARD3.

Inflammatory bowel disease and celiac disease: overlaps in the pathology and genetics, and their potential drug targets.

Inflammatory bowel disease, which covers Crohn's disease and ulcerative colitis, and celiac disease are both inflammatory diseases of the intestinal tract. In both diseases an antigen activates several inflammatory pathways, which cause extensive damage to the intestinal mucosa and lead to increased permeability of the intestinal epithelium. The causative antigen in inflammatory bowel disease is the microflora in the intestinal lumen, facilitated by an impaired innate immune system that is unable to halt the invasion of microbes into the lamina propria.

Molecular diagnosis of celiac disease: are we there yet?

Background: Celiac disease (CD) is a complex genetic disorder of the small intestine resulting from aberrant cellular responses to gluten peptides. It may affect as much as 1% of the Western population and the only treatment is a lifelong gluten-free diet. Allelic variants of the HLA-DQ locus, coding for the HLA-DQ2 and HLA-DQ8 molecules, contribute to ∼ 40% of CD etiology, whereas other genes, such as MYO9B, CTLA4, IL2, IL21, PARD3 and MAGI2, have only a modest effect.

Newly identified genetic risk variants for celiac disease related to the immune response.

Our genome-wide association study of celiac disease previously identified risk variants in the IL2-IL21 region. To identify additional risk variants, we genotyped 1,020 of the most strongly associated non-HLA markers in an additional 1,643 cases and 3,406 controls. Through joint analysis including the genome-wide association study data (767 cases, 1,422 controls), we identified seven previously unknown risk regions (P < 5 x 10(-7)).

Associations with tight junction genes PARD3 and MAGI2 in Dutch patients point to a common barrier defect for coeliac disease and ulcerative colitis.

Background: Coeliac disease (gluten-sensitive enteropathy; GSE) and inflammatory bowel disease (IBD) are common gastrointestinal disorders. Both display enhanced intestinal permeability, initiated by gluten exposure (GSE) or bacterial interactions (IBD). Previous studies showed the association of both diseases with variants in MYO9B, presumably involved in epithelial permeability.

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.

We tested 310,605 SNPs for association in 778 individuals with celiac disease and 1,422 controls. Outside the HLA region, the most significant finding (rs13119723; P = 2.0 x 10(-7)) was in the KIAA1109-TENR-IL2-IL21 linkage disequilibrium block.

Neutrophil recruitment and barrier impairment in celiac disease: a genomic study.

Background & Aims: Celiac disease is an enteropathy featuring villous atrophy, crypt hyperplasia, and lymphocytosis. Tissue remodeling is driven by an inflammatory reaction to gluten in genetically susceptible individuals. The adaptive pathway is considered the major immune response but recent evidence has indicated the involvement of innate immunity as well.

The SPINK gene family and celiac disease susceptibility.

The gene family of serine protease inhibitors of the Kazal type (SPINK) are functional and positional candidate genes for celiac disease (CD). Our aim was to assess the gut mucosal gene expression and genetic association of SPINK1, -2, -4, and -5 in the Dutch CD population. Gene expression was determined for all four SPINK genes by quantitative reverse-transcription polymerase chain reaction in duodenal biopsy samples from untreated (n=15) and diet-treated patients (n=31) and controls (n=16).

A functional candidate screen for coeliac disease genes.

It is increasingly evident that different inflammatory disorders show some overlap in their pathological features, concurrence in families and individuals, and shared genetic factors. This might also be true for coeliac disease, a chronic inflammatory disorder of the gastrointestinal system, which shares two linkage regions with inflammatory bowel disease: on chromosome 5q31 (CELIAC2 and IBD5) and 19p13 (CELIAC4 and IBD6). We hypothesised that these regions contain genes that contribute to susceptibility to both disorders.

Association analysis of MYO9B gene polymorphisms with celiac disease in a Swedish/Norwegian cohort.

Association between myosin IXB (MYO9B) gene variants and celiac disease (CD) has been reported in a study of a Dutch cohort. Six single nucleotide polymorphisms (SNPs) within the 3' part of the MYO9B gene showed significant genetic association and formed an associated haplotype. The current study aimed to replicate these findings in a Swedish/Norwegian cohort.