Les midis-rap : lieu d'inspiration pour la recherche-action participative

Les Midis-RAP sont des rencontres de citoyennes, d’intervenantes, d’étudiantes et de chercheures intéressées à échanger sur des pratiques de recherche-action participative (RAP). Dans cet article, les Midis-RAP sont présentés en poursuivant deux objectifs : premièrement, à partir de données collectées à cet effet, réfléchir sur l’apport, pour les praticiennes de la RAP, de ce lieu de rencontre devenu un incontournable dans la région de Québec; deuxièmement, à partir de l’exceptionnelle richesse de contenu des Midis-RAP, explorer les enjeux politiques auxquels sont confrontées les praticiennes de cette approche de recherche.The Midis-RAP are lunchtime meetings of citizens, non-academic researchers and researchers interested in exchanging participatory action research (PAR) practices—or RAP in French, for recherche-action participative. In this article, the Midis-RAP are presented with a view to pursuing two objectives: First, based on data collected for this purpose, reflect on the contribution for the practitioners of RAP of this type of meeting, which has become a must in the region of Quebec. And secondly, based on the exceptional richness of the content of the Midis-RAP, explore the political issues facing practitioners using this research approach

Reduction in keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide

Epidermolysis bullosa simplex (EBS) is a dominantly inherited skin disease caused by mutations in the keratin 5 (KRT5) or KRT14 genes 1. Some reports suggested that fever and/or hot weather may exacerbate EBS phenotype 2. Effective EBS therapies are still lacking. Molecular chaperones are proteins whose main function is to promote the correct folding of polypeptides (s1). Molecules such as trimethylamine N-oxide (TMAO) and sodium 4-phenylbutyrate (4-PBA) act as chemical chaperones (s2) with protein folding and stabilization activities (s3, s4, s5). Treatment of affected epidermal cells by chemical chaperones to correct the misfolded and aggregated keratins that characterize EBS seems a viable therapeutic option 3. Furthermore, the type I keratins K16 and K17 polymerize with K5, and upregulation of these proteins could replace the mutant K14 in the heterodimer and improve disease pathology (s6). Hence, chemical chaperones which can reduce keratin aggregates formation and upregulate K16 and K17 in EBS-affected cells would be ideal therapeutic candidates for EBS

Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5

Epidermolysis bullosa simplex (EBS) is a rare skin disease usually inherited in an autosomal dominant pattern. EBS is resulting from mutations in keratin 5 (KRT5) and keratin 14 (KRT14) genes encoding the keratins 5 and 14 proteins expressed in the keratinocytes of the basal layer of the epidermis. To date, seven pathogenic mutations have been reported to be responsible for EBS in the Canadian population from the province of Quebec: p.Pro25Leu, p.Leu150Pro, p.Met327Thr and p.Arg559X in KRT5; p.Arg125Ser, p.Ile377Thr and p.Ile412Phe in KRT14. Here, we present a novel French-Canadian patient diagnosed with EBS confined to the soles but presenting a severe complication form including blisters, hyperkeratosis, skin erosions and toenail abnormalities. Mutation screening was performed by direct sequencing of the entire coding regions of KRT5 and KRT14 genes and revealed the previously reported missense heterozygous mutation c. 1130T > C in KRT14 (p.Ile377Thr). Furthermore, this patient is carrying a second mutation in KRT5, c.413G > A (p.Gly138Glu), which has been linked to an increased risk of basal cell carcinoma in the literature. We suspect an impact of the p.Gly138Glu variant on the EBS phenotype severity of the studied patient. The pathogenicity and consequences of both genetic variations were simulated by in silico tools