11 research outputs found
Sexual function is impaired in women and men with pulmonary hypertension
Background: Sexual health related quality of life (SHRQoL) is an important pillar of health related quality of life (HRQoL). The aim of this study was to investigate sexual functioning in men and women with pulmonary hypertension (PH). Methods and results: In this cross-sectional study, a total of 78 patients were included, 49 were diagnosed with pulmonary arterial hypertension and 29 with chronic thromboembolic pulmonary hypertension (median age 53 [IQR: 46–67 years], 66.7% female). All patients completed SHRQoL questionnaires; for women: ASEX, FSFI, and FSDS and for men: ASEX and IIEF. A PH-specific SHRQoL questionnaire was created based on 4 semi-structured interviews to investigate PH-specific barriers in sexuality. More than half of the patients experienced symptoms during sexual activity, mainly dyspnea (52.6%) and palpitations (32.1%). Sexual dysfunction was present, according to the FSFI-questionnaire, in 63.0% of women. All of the men experienced at least mild dysfunction in one of the domains of the IIEF and erectile dysfunction was present in 48.0%. Sexual dysfunction occurred more often in both men and women with PH than in the general population. PAH-specific medication was not associated with sexual dysfunction, nor was subcutaneous or intravenous pump therapy (OR 1.14, 95%-CI: 0.75–1.73). Diuretics were associated with sexual dysfunction in women (OR 4.01, 95%-CI: 1.04–15.41). Of all patients committed in a relationship, 69.0% would like to discuss sexuality with their healthcare provider. Conclusion: This study showed a high prevalence of sexual dysfunction in men and women with PH. It is important for healthcare providers to discuss sexuality with patients. Graphical abstract: [Figure not available: see fulltext.].</p
Mutations in DCHS1 Cause Mitral Valve Prolapse
SUMMARY Mitral valve prolapse (MVP) is a common cardiac valve disease that affects nearly 1 in 40 individuals1–3. It can manifest as mitral regurgitation and is the leading indication for mitral valve surgery4,5. Despite a clear heritable component, the genetic etiology leading to non-syndromic MVP has remained elusive. Four affected individuals from a large multigenerational family segregating non-syndromic MVP underwent capture sequencing of the linked interval on chromosome 11. We report a missense mutation in the DCHS1 gene, the human homologue of the Drosophila cell polarity gene dachsous (ds) that segregates with MVP in the family. Morpholino knockdown of the zebrafish homolog dachsous1b resulted in a cardiac atrioventricular canal defect that could be rescued by wild-type human DCHS1, but not by DCHS1 mRNA with the familial mutation. Further genetic studies identified two additional families in which a second deleterious DCHS1 mutation segregates with MVP. Both DCHS1 mutations reduce protein stability as demonstrated in zebrafish, cultured cells, and, notably, in mitral valve interstitial cells (MVICs) obtained during mitral valve repair surgery of a proband. Dchs1+/− mice had prolapse of thickened mitral leaflets, which could be traced back to developmental errors in valve morphogenesis. DCHS1 deficiency in MVP patient MVICs as well as in Dchs1+/− mouse MVICs result in altered migration and cellular patterning, supporting these processes as etiological underpinnings for the disease. Understanding the role of DCHS1 in mitral valve development and MVP pathogenesis holds potential for therapeutic insights for this very common disease
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Air compliance through pollution prevention at Air Force Materiel Command facilities.
Options for air compliance through pollution prevention (P2) have been identified at 14 facilities of the US Air Force Materiel Command, ranging from depots with significant light industrial activity to laboratories. Previous P2 efforts concentrated on reducing hazardous and solid wastes, with any reduction in air impacts generally being a collateral benefit. This work focused on reducing air emissions and air compliance vulnerabilities. P2 options were identified in three stages. First, potentially applicable P2 options were identified from Internet and published information. Attention was given to identifying the types of sources to which an option could be applied, the option's state of development, and constraints that could limit its application. Traditional P2 options involving technology or equipment changes and material substitution were considered. In addition, newer approaches based on administrative ''controls'' were considered. These included inserting P2 into operating permits in exchange for administrative relief, privatization, derating boilers, and reducing an installation's potential to emit and compliance vulnerability by separating sources not under the Air Force's ''common control.'' Next, criteria and toxic emissions inventories by source category were prepared from inventory data supplied by facilities. The major problems at this stage were differences in the levels of detail provided by facilities and in the categories used by different installations. Emitting categories were matched to P2 option categories to identify candidate options. Candidates were screened to account for local regulations and technical information about sources in the inventories. When possible, emission reductions were estimated to help facility personnel prioritize options. Some options identified are being actively pursued by facilities to determine their site-specific feasibility. Although much work has been done to implement material substitution programs, this work indicates that different priorities and additional opportunities might result from using air emissions and compliance vulnerability as driving metrics
Weetjes en praktische tips over de aanpak van Brachyspira pilosicoli bij biologische varkens
In deze flyer wordt een aantal weetjes en praktische tips over de aanpak van Brachyspira pilosicoli bij biologische varkens samengevat. De kennis is zowel afkomstig uit onderzoek als uit praktijkervaringen
Stadsboeren in Nederland : professionalisering van de stadsgerichte landbouw
De economische en financiële context in beeld van stadsboeren in Nederland, inzicht in de ruimtelijke kwaliteit en ecologische kansen, en de stadsgerichte landbouw in een breder maatschappelijk perspectief
Translating dosage compensation to trisomy 21
Down\u27s syndrome is a common disorder with enormous medical and social costs, caused by trisomy for chromosome 21. We tested the concept that gene imbalance across an extra chromosome can be de facto corrected by manipulating a single gene, XIST (the X-inactivation gene). Using genome editing with zinc finger nucleases, we inserted a large, inducible XIST transgene into the DYRK1A locus on chromosome 21, in Down\u27s syndrome pluripotent stem cells. The XIST non-coding RNA coats chromosome 21 and triggers stable heterochromatin modifications, chromosome-wide transcriptional silencing and DNA methylation to form a \u27chromosome 21 Barr body\u27. This provides a model to study human chromosome inactivation and creates a system to investigate genomic expression changes and cellular pathologies of trisomy 21, free from genetic and epigenetic noise. Notably, deficits in proliferation and neural rosette formation are rapidly reversed upon silencing one chromosome 21. Successful trisomy silencing in vitro also surmounts the major first step towards potential development of \u27chromosome therapy\u27