Promoting Stakeholder Participation in a Learning-Based Monitoring and Evaluation Framework

This research analysed monitoring and evaluation activities based on the Outcome Mapping methodology within the Zimbabwe Secondary Teacher Training Environmental Education Project (St2eep), an education for sustainability initiative in Zimbabwe. The majority of donorfunded environmental education programmes use conventional monitoring and evaluation approaches based on the logical frameworks (logframe) that guide the programme designs and management. Although research indicates significant problems with the implementation of these approaches, there are only a few documented examples of experiences with alternative monitoring and evaluation frameworks. The case of St2eep allowed us to compare three years of experiences with monitoring and evaluation based on the logframe, with two years of monitoring and evaluation based on Outcome Mapping. We evaluate how the project team and the donor organisation, VVOB (the Flemish Office for Development, Cooperation and Technical Assistance), have perceived the performance of Outcome Mapping with regards to the two main aims of monitoring and evaluation activities: accountability and learning. This is complemented with an analysis of monitoring documentation. The project team refers to the collaborative nature of monitoring and evaluation in St2eep, the principles of self-assessment and peer-assessment, combined with public recognition for project successes, as the key factors supporting learning and accountability through monitoring and evaluation in St2eep. The Outcome Mapping-based monitoring and evaluation system is shown to enhance ownership and participation of local stakeholders in the project’s monitoring and evaluation system

Epidermolysa bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene

BACKGROUND Heritable forms of epidermolysis bullosa (EB) constitute a heterogeneous group of skin disorders of genetic aetiology that are characterised by skin and mucous membrane blistering and ulceration in response to even minor trauma. Here we report the occurrence of EB in three Danish Hereford cattle from one herd. RESULTS Two of the animals were necropsied and showed oral mucosal blistering, skin ulcerations and partly loss of horn on the claws. Lesions were histologically characterized by subepidermal blisters and ulcers. Analysis of the family tree indicated that inbreeding and the transmission of a single recessive mutation from a common ancestor could be causative. We performed whole genome sequencing of one affected calf and searched all coding DNA variants. Thereby, we detected a homozygous 2.4 kb deletion encompassing the first exon of the LAMC2 gene, encoding for laminin gamma 2 protein. This loss of function mutation completely removes the start codon of this gene and is therefore predicted to be completely disruptive. The deletion co-segregates with the EB phenotype in the family and absent in normal cattle of various breeds. Verifying the homozygous private variants present in candidate genes allowed us to quickly identify the causative mutation and contribute to the final diagnosis of junctional EB in Hereford cattle. CONCLUSIONS Our investigation confirms the known role of laminin gamma 2 in EB aetiology and shows the importance of whole genome sequencing in the analysis of rare diseases in livestock

Anti-inflammatory phytotherapeutics: a valuable alternative to NSAID treatment in horses?

ABSTRACT In equine practice, phytotherapy is meeting the increasing demand of horse owners for "natural", safe treatment methods. Long-term use of NSAIDs can cause severe adverse effects, hence the growing popularity of anti-inflammatory phytotherapeutics. At the current time, several different herbal mixes are being commercialized, which makes it difficult for horse owners and veterinarians alike to make a well-founded choice. Harpagophytum procumbens (devil's claw), Salix spp. (willow) and Ribes nigrum (blackcurrant), three plants that are often used in these mixes, have been evaluated both in vitro and in vivo. Based on published studies and the evaluation of these studies, for example by the Cochrane Collaboration, there seems to be some evidence for Harpagophytum procumbens and Salix spp. having a stronger analgesic and anti-inflammatory effect than placebos in humans. In horses, however, only one limited clinical study on Harpagophytum has been performed up until now, while no studies were found on the use of Salix in horses. More research is needed before any claims concerning efficacy or safety can be made regarding the use of these plants in treating horses. It has also been claimed that Ribes nigrum leaves have an anti-inflammatory effect, though this has not yet been clinically proven either in humans or in horses. Although veterinary phytotherapy is as old as animal husbandry itself, little scientific proof can be found regarding its uses. More research is needed before phytotherapy can be advertised as a valuable and safe alternative to the more conventional treatment protocols. SAMENVATTING In de paardengeneeskunde is fytotherapie een antwoord op de toenemende vraag van eigenaren naar "natuurlijke", veilige behandelmethoden. Het langdurig gebruik van NSAID's kan ernstige bijwerkingen geven, vandaar de groeiende populariteit van ontstekingsremmende fytotherapeutica. Momenteel zijn er meerdere kruidenpreparaten commercieel beschikbaar maar het is moeilijk voor de paardeneigenaar en de dierenarts om hier een verantwoorde keuze uit te maken. Harpagophytum procumbens (duivelsklauw), Salix spp. (wilg) en Ribes nigrum (zwarte bes of cassisbes), drie planten die veel gebruikt worden in de commerciële preparaten, werden zowel in vitro als in vivo geëvalueerd. Op basis van gepubliceerde studies en de beoordeling van deze studies door onder andere de Cochrane Collaboration zijn er aanwijzingen dat Harpagophytum procumbens en Salix spp. bij de mens een groter analgetisch en ontstekingsremmend effect hebben dan een placebo. Bij paarden is er echter slechts één beperkte klinische studie met Harpagophytum uitgevoerd, en het effect van Salix werd nog nooit onderzocht. Om de werkzaamheid en veiligheid van deze planten bij het paard te kunnen beoordelen, dient er meer onderzoek verricht te worden. De bladeren van Ribes nigrum zouden ook een ontstekingsremmende werking hebben, maar dit is momenteel noch bij de mens, noch bij het paard klinisch aangetoond. Hoewel de veterinaire fytotherapie al even lang bestaat als de dierhouderij, is er weinig wetenschappelijk bewijs omtrent een efficiënte werking ervan. Vooraleer men de fytotherapie kan aanraden als een waardevol en veilig alternatief voor de conventionele behandelmethoden, is er duidelijk nog meer onderzoek nodig

Publisher Correction:Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

An amendment to this paper has been published and can be accessed via a link at the top of the paper

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

Recent advancements in next generation sequencing (NGS) technology have led to the identification of the giant sarcomere gene, titin (TTN), as a major human disease gene. Truncating variants of TTN (TTNtv) especially in the A-band region account for 20% of dilated cardiomyopathy (DCM) cases. Much attention has been focused on assessment and interpretation of TTNtv in human disease; however, missense and non-frameshifting insertions/deletions (NFS-INDELs) are difficult to assess and interpret in clinical diagnostic workflow. Targeted sequencing covering all exons of TTN was performed on a cohort of 530 primary DCM patients from three cardiogenetic centres across Europe. Using stringent bioinformatic filtering, twenty-nine and two rare TTN missense and NFS-INDELs variants predicted deleterious were identified in 6.98% and 0.38% of DCM patients, respectively. However, when compared with those identified in the largest available reference population database, no significant enrichment of such variants was identified in DCM patients. Moreover, DCM patients and reference individuals had comparable frequencies of splice-region missense variants with predicted splicing alteration. DCM patients and reference populations had comparable frequencies of rare predicted deleterious TTN missense variants including splice-region missense variants suggesting that these variants are not independently causative for DCM. Hence, these variants should be classified as likely benign in the clinical diagnostic workflow, although a modifier effect cannot be excluded at this stage.Peer reviewe

PROGNOSTIC IMPLICATION OF THE MITRAL VALVE TENTING GEOMETRY IN PATIENTS WITH DILATED CARDIOMYOPATHY: TRANSTHORACIC REAL-TIME 3D ECHOCARDIOGRAPHIC STUDY

BACKGROUND: The pathogenic phospholamban R14del mutation causes dilated and arrhythmogenic right ventricular cardiomyopathies and is associated with an increased risk of malignant ventricular arrhythmias and end-stage heart failure. We performed a multicentre study to evaluate mortality, cardiac disease outcome, and risk factors for malignant ventricular arrhythmias in a cohort of phospholamban R14del mutation carriers. METHODS AND RESULTS: Using the family tree mortality ratio method in a cohort of 403 phospholamban R14del mutation carriers, we found a standardized mortality ratio of 1.7 (95% confidence interval, 1.4-2.0) with significant excess mortality starting from the age of 25 years. Cardiological data were available for 295 carriers. In a median follow-up period of 42 months, 55 (19%) individuals had a first episode of malignant ventricular arrhythmias and 33 (11%) had an end-stage heart failure event. The youngest age at which a malignant ventricular arrhythmia occurred was 20 years, whereas for an end-stage heart failure event this was 31 years. Independent risk factors for malignant ventricular arrhythmias were left ventricular ejection fraction <45% and sustained or nonsustained ventricular tachycardia with hazard ratios of 4.0 (95% confidence interval, 1.9-8.1) and 2.6 (95% confidence interval, 1.5-4.5), respectively. CONCLUSIONS: Phospholamban R14del mutation carriers are at high risk for malignant ventricular arrhythmias and end-stage heart failure, with left ventricular ejection fraction <45% and sustained or nonsustained ventricular tachycardia as independent risk factors. High mortality and a poor prognosis are present from late adolescence. Genetic and cardiac screening is, therefore, advised from adolescence onwards