Dysfibrinogenemia—Potential Impact of Genotype on Thrombosis or Bleeding

The congenital dysfibrinogenemias, most often associated with bleeding disorders, encompass mutations in the amino-terminal end of fibrinogen α-chain consisting of Gly17-Pro18-Arg19-Val20, known as knob A, which is a critical site for fibrin polymerization. Here we review the studies reporting dysfibrinogenemia due to mutations affecting fibrinogen knob A and identified 29 papers. The number of reports on dysfibrinogenemias related to residues Gly17, Pro18, Arg19, and Val20 is 5, 4, 18, and 2, respectively. Dysfibrinogenemias related to residues Gly17, Pro18, and Val20 are exclusively associated with bleeding tendency. However, the clinical picture associated with dysfibrinogenemia related to residue Arg19 varies, with most patients suffering from bleeding tendencies, but also transitory ischemic attacks and retinal thrombosis may occur. The reason for this variation is unclear. To elaborate the genotype–phenotype associations further, we studied a Danish family with knob A-related dysfibrinogenemia caused by the Aα Arg19Gly (p.Arg19Gly) mutation using whole-exome sequencing and fibrin structure analysis. Our family is the first reported carrying the p.Arg19Gly mutation combined with one or more single nucleotide polymorphisms (SNP)s in FGA, FGB, and/or FGG and increased fibrin fiber thickness and fibrin mass-to-length ratio suffering from pulmonary emboli, suggesting that compound genotypes may contribute to the thrombogenic phenotype of these patients. Our review, accordingly, focuses on significance of SNPs, compound genotypes, and fibrin structure measures affecting the genotype–phenotype associations in fibrinogen knob A mutations.

Times are changing: the role of heritage identity on employee identification in a Danish family-owned company

PurposeThe aim of this article is to explore how the employees of a Danish family-owned company identify with the heritage identity of their company. More specifically, the purpose is to study how the employees interpret certain historical events and values in their efforts to make sense of which heritage identity traits have remained meaningful for them over the passage of time and what these historical events and traits mean to their identification with the company.Design/methodology/approachThe investigation is based on 19 in-depth interviews with employees. A critical discourse analysis approach is adopted to uncover the discursive dynamics appearing across the employees' interpretations of historical events and values.FindingsThe study indicates that heritage identity represent a complex and dynamic resource for employees' organizational identification. Therefore, this article argues that it could be a challenge for management to maintain a stable and enduring heritage identity, because the employees' interpretations and consequently their organizational identification is subject to continual revision and under influence by a dynamic and constantly changing social context.Research limitations/implicationsThe findings of this study is limited to the specific context of one company. Further research could investigate the same topics when interviewing employees across the national borders of a global family company in times of change.Practical implicationsManagement need to identify whether different generations of employees develop a strong or weak identification with certain heritage identity traits and whether there are competing or compatible targets of heritage identification among these generations.Originality/valueThis study illuminates the potential challenges related to the maintenance and preservation of heritage identity in a company with roots to a strong founding family, which operates in a constantly changing environment.

Configuring the autism epidemic: Why are so few girls diagnosed?

Autism has been described as an epidemic, but this claim is contested and may point to an awareness epidemic, i.e. changes in the definition of what autism is and more attention being invested in diagnosis leading to a rise in registered cases. The sex ratio of children diagnosed with autism is skewed in favour of boys, and girls with autism tend to be diagnosed much later than boys. Building and further developing the notion of ‘configuration’ of epidemics, this article explores the configuration of autism in Denmark, with a particular focus on the health system and social support to families with children diagnosed with autism, seen from a parental perspective.The article points to diagnostic dynamics that contribute to explaining why girls with autism are not diagnosed as easily as boys. We unfold these dynamics through the analysis of a case of a Danish family with autism.