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Sökning: WFRF:(Schouten John W.)

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  • Hietanen, Joel, et al. (författare)
  • Reimagining society through retail practice
  • 2016
  • Ingår i: Journal of Retailing. - : Elsevier BV. - 0022-4359 .- 1873-3271. ; 92:4, s. 411-425
  • Tidskriftsartikel (refereegranskat)abstract
    • Marketing scholars with sociological and anthropological leanings have made great strides in uncovering strategic and theoretical implicationsof consumer collectives and consumption-driven market phenomena. It has not been very common that their perspectives have been brought to bearon retailing practice or theory. This ethnographic study examines a highly successful, globalizing, consumer-driven pop-up retail festival for itspotential lessons about social movements. It reveals new insights into logics and potentialities for retailing as a field of affordances for reimaginingsociety and social practices. It points especially to how eruptions of ‘carnivalesque mood’ unite everyday citizens to imagine change in a highlyregulated social context and how they utilize the practice of retailing collectively to actualize societal change.
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  • Régal, Luc, et al. (författare)
  • PREPL deficiency : Delineation of the phenotype and development of a functional blood assay
  • 2018
  • Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600. ; 20:1, s. 109-118
  • Tidskriftsartikel (refereegranskat)abstract
    • PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis. Therefore, we developed a PREPL blood assay and further delineated the phenotype.MethodsClinical features of new subjects with PREPL deficiency were recorded. The presence of PREPL in lymphocytes and its reactivity with an activity-based probe were evaluated by western blot.ResultsFive subjects with isolated PREPL deficiency, three with hypotonia-cystinuria syndrome, and two with atypical hypotonia-cystinuria syndrome had nine novel alleles. Their IQs ranged from 64 to 112. Adult neuromuscular signs included ptosis, nasal dysarthria, facial weakness, and variable proximal and neck flexor weakness. Autonomic features are prevalent. PREPL protein and reactivity were absent in lymphocytes from subjects with PREPL deficiency, but normal in the clinically similar Prader-Willi syndrome.ConclusionPREPL deficiency causes neuromuscular, autonomic, cognitive, endocrine, and dysmorphic clinical features. PREPL is not deficient in Prader-Willi syndrome. The novel blood test should facilitate the confirmation of PREPL deficiency.
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