Rule breaking in social care: hierarchy, contentiousness and informal rules

Taking a longitudinal case study approach, this article examines the process of rule breaking in a newly formed UK domiciliary care provider. In this study, the founder acted in such a manner so as to partially decouple the organization from externally imposed institutional rules and regulations, allowing the emergence of informal rules between carer and client. These informal rules increasingly guided the behaviours of care workers over time, resulting in the breach of formal strictures. Building on the dimensions of hierarchy and contentiousness, rule breaking is conceptualized here as a phenomenon which occurs as a result of the tension between competing formal and informal rules, at multiple levels throughout the organizational hierarchy

Kin, fictive kin and strategic movement: Working class heritage of the Upper Burnett

The Upper Burnett district of southeast Queensland, Australia is a landscape of working class resilience in the face of natural and institutional oppression. The Upper Burnett was the site of numerous small goldmining towns throughout the late nineteenth and early twentieth centuries. Physically, most of these towns now survive only as archaeological remnants, yet both the tangible heritage elements and the intangible forms of labour heritage, such as stories in the landscape and of movement between places, contribute to the shared and continued attachment of the Burnett community to its mining history. Historical archaeological, sociological and landscape studies, including long-term projects working with descendents of the mining families, have provided detailed insight into the palimpsest of meanings applied to the social landscape of the working class inhabitants. Oral history, documentary and archaeological research have been conducted on the townships of Paradise, Mount Shamrock, Monal and Cania. The cultural landscape of these towns can be seen as a complex heritage of working class pastimes, networks of labour through kin and fictive kin relationships, strategic movement across the region and the interaction between communities. Although the local museums tend to memorialise the physical heritage of the goldmining through collecting and displaying the impressive material culture (such as stampers, berdan pans, mine wheels, etc.), it is the stories, meanings, diaries, and the continued attachments to these places today that play the larger role in the remembering of the working class past

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an autosomal dominant disorder associated with de novo missense variants in the degron of AFF3, a nine amino acid sequence important for its binding to ubiquitin ligase, or with de novo deletions of this region. The sixteen affected individuals we identified, along with two previously reported individuals, present with a recognizable pattern of anomalies, which we named KINSSHIP syndrome (KI for horseshoe kidney, NS for Nievergelt/Savarirayan type of mesomelic dysplasia, S for seizures, H for hypertrichosis, I for intellectual disability, and P for pulmonary involvement), partially overlapping the AFF4-associated CHOPS syndrome. Whereas homozygous Aff3 knockout mice display skeletal anomalies, kidney defects, brain malformations, and neurological anomalies, knockin animals modeling one of the microdeletions and the most common of the missense variants identified in affected individuals presented with lower mesomelic limb deformities like KINSSHIP-affected individuals and early lethality, respectively. Overexpression of AFF3 in zebrafish resulted in body axis anomalies, providing some support for the pathological effect of increased amount of AFF3. The only partial phenotypic overlap of AFF3- and AFF4-associated syndromes and the previously published transcriptome analyses of ALF transcription factors suggest that these factors are not redundant and each contributes uniquely to proper development

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an autosomal dominant disorder associated with de novo missense variants in the degron of AFF3, a nine amino acid sequence important for its binding to ubiquitin ligase, or with de novo deletions of this region. The sixteen affected individuals we identified, along with two previously reported individuals, present with a recognizable pattern of anomalies, which we named KINSSHIP syndrome (KI for horseshoe kidney, NS for Nievergelt/Savarirayan type of mesomelic dysplasia, S for seizures, H for hypertrichosis, I for intellectual disability, and P for pulmonary involvement), partially overlapping the AFF4-associated CHOPS syndrome. Whereas homozygous Aff3 knockout mice display skeletal anomalies, kidney defects, brain malformations, and neurological anomalies, knockin animals modeling one of the microdeletions and the most common of the missense variants identified in affected individuals presented with lower mesomelic limb deformities like KINSSHIP-affected individuals and early lethality, respectively. Overexpression of AFF3 in zebrafish resulted in body axis anomalies, providing some support for the pathological effect of increased amount of AFF3. The only partial phenotypic overlap of AFF3- and AFF4-associated syndromes and the previously published transcriptome analyses of ALF transcription factors suggest that these factors are not redundant and each contributes uniquely to proper development