Asking the readers: audience research into alternative journalism

Alternative forms of journalism are said to challenge the passive role of audience members as receivers and to foster active citizenship among alternative journalists and audiences. Yet the scholarly literature on alternative journalism contains more assertions about than evidence from the audience. Downing has described the audience for alternative media as “the virtually unknown”, prompting him to urge journalism scholars to undertake more audience research to help increase our understanding of this allegedly active and civic-minded public. This exploratory study of the people who regularly read a contemporary example of alternative journalism—an investigative local blog covering one UK city—is intended to contribute towards filling the gap identified by Downing. Audience views are explored by means of questionnaires and focus groups, providing some evidence that individuals are attracted to alternative journalism by their dissatisfaction with mainstream media; that they see alternative media as helping them make sense of the world; and that, to an extent, engaging with such media is both a prompt to, and a reflection of, readers’ democratic engagement as citizens. Recognising the limitations of this small study, the article concludes by reiterating Downing's call for further research

Alternative Journalism as Monitorial Citizenship? A case study of a local news blog

Recent years have seen claims that some examples of online alternative journalism in the form of hyperlocal and local blogs are helping to address society’s “democratic deficit” by subjecting the actions of the powerful to increased public scrutiny, in a process that has been described as “monitorial citizenship”. To explore how this might work in practice, this study examines the origins, motivations and practices of one such site in the United Kingdom: the Leeds Citizen. The aim is to provide the sort of detailed consideration in depth that is almost by definition missing from wider surveys of the field. To this end, the case study is based on a series of interviews with the site’s creator, augmented by analysis of content, all discussed within the context of scholarly literature on how alternative, non-commercial forms of journalism operate in the digital age. The article concludes that this contemporary form of alternative journalism may indeed be described as an example of monitorial citizenship in action, but there is also a need for further research

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

Hydrops fetalis describes fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The majority of hydrops fetalis cases are nonimmune conditions that present with generalized edema of the fetus, and approximately 15% of these nonimmune cases result from a lymphatic abnormality. Here, we have identified an autosomal dominant, inherited form of lymphatic-related (nonimmune) hydrops fetalis (LRHF). Independent exome sequencing projects on 2 families with a history of in utero and neonatal deaths associated with nonimmune hydrops fetalis uncovered 2 heterozygous missense variants in the gene encoding Eph receptor B4 (EPHB4). Biochemical analysis determined that the mutant EPHB4 proteins are devoid of tyrosine kinase activity, indicating that loss of EPHB4 signaling contributes to LRHF pathogenesis. Further, inactivation of Ephb4 in lymphatic endothelial cells of developing mouse embryos led to defective lymphovenous valve formation and consequent subcutaneous edema. Together, these findings identify EPHB4 as a critical regulator of early lymphatic vascular development and demonstrate that mutations in the gene can cause an autosomal dominant form of LRHF that is associated with a high mortality rate

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy.

The major spliceosome comprises the five snRNAs U1, U2, U4, U5 and U6. We recently showed that mutations in RNU4- 2, which encodes U4 snRNA, cause one of the most prevalent monogenic neurodevelopmental disorders. Here, we report that recurrent germline mutations in RNU2-2P , a 191bp gene encoding U2 snRNA, are responsible for a related disorder. By genetic association, we implicated recurrent de novo single nucleotide mutations at nucleotide positions 4 and 35 of RNU2-2P among nine cases. We replicated this finding in six additional cases, bringing the total to 15. The disorder is characterized by intellectual disability, neurodevelopmental delay, autistic behavior, microcephaly, hypotonia, epilepsy and hyperventilation. All cases display a severe and complex seizure phenotype. Our findings cement the role of major spliceosomal snRNAs in the etiologies of neurodevelopmental disorders. </p

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

The TRIO gene encodes a rho guanine exchange factor, the function of which is to exchange GDP to GTP, and hence to activate Rho GTPases, and has been described to impact neurodevelopment. Specific genotype-to-phenotype correlations have been established previously describing striking differentiating features seen in variants located in specific domains of the TRIO gene that are associated with opposite effects on RAC1 activity. Currently, 32 cases with a TRIO gene alteration have been published in the medical literature. Here, we report an additional 25, previously unreported individuals who possess heterozygous TRIO variants and we review the literature. In addition, functional studies were performed on the c.4394A &gt; G (N1465S) and c.6244-2A &gt; G TRIO variants to provide evidence for their pathogenicity. Variants reported by the current study include missense variants, truncating nonsense variants, and an intragenic deletion. Clinical features were previously described and included developmental delay, learning difficulties, microcephaly, macrocephaly, seizures, behavioral issues (aggression, stereotypies), skeletal problems including short, tapering fingers and scoliosis, dental problems (overcrowding/delayed eruption), and variable facial features. Here, we report clinical features that have not been described previously, including specific structural brain malformations such as abnormalities of the corpus callosum and ventriculomegaly, additional psychological and dental issues along with a more recognizable facial gestalt linked to the specific domains of the TRIO gene and the effect of the variant upon the function of the encoded protein. This current study further strengthens the genotype-to-phenotype correlation that was previously established and extends the range of phenotypes to include structural brain abnormalities, additional skeletal, dental, and psychiatric issues.</p