CARE: from periphery to centre

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Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

Background. Recessive mutations in the NPHS1 gene encoding nephrin account for ∼40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as steroid-resistant nephrotic syndrome (SRNS) within the first 90 days of life. Currently, more than 119 different mutations of NPHS1 have been published affecting most exons. Methods. We here performed mutational analysis of NPHS1 in a worldwide cohort of 67 children from 62 different families with CNS. Results. We found bi-allelic mutations in 36 of the 62 families (58%) confirming in a worldwide cohort that about one-half of CNS is caused by NPHS1 mutations. In 26 families, mutations were homozygous, and in 10, they were compound heterozygous. In an additional nine patients from eight families, only one heterozygous mutation was detected. We detected 37 different mutations. Nineteen of the 37 were novel mutations (∼51.4%), including 11 missense mutations, 4 splice-site mutations, 3 nonsense mutations and 1 small deletion. In an additional patient with later manifestation, we discovered two further novel mutations, including the first one affecting a glycosylation site of nephrin. Conclusions. Our data hereby expand the spectrum of known mutations by 17.6%. Surprisingly, out of the two siblings with the homozygous novel mutation L587R in NPHS1, only one developed nephrotic syndrome before the age of 90 days, while the other one did not manifest until the age of 2 years. Both siblings also unexpectedly experienced an episode of partial remission upon steroid treatmen

A justification of whistleblowing

Penultimate version accepted for publicationWhistleblowing is the act of disclosing information from a public or private organization in order to reveal cases of corruption that are of immediate or potential danger to the public. Blowing the whistle involves personal risk, especially when legal protection is absent, and charges of betrayal, which often come in the form of legal prosecution under treason laws. In this article we argue that whistleblowing is justified when disclosures are made with the proper intent and fulfill specific communicative constraints in addressing issues of public interest. Three communicative constraints of informativeness, truthfulness and evidence are discussed in this regard. We develop a ‘harm test’ to assess the intent for disclosures, concluding that it is not sufficient for justification. Along with the proper intent, a successful act of whistleblowing should provide information that serves the public interest. Taking cognizance of the varied conceptions of public interest, we present an account of public interest that fits the framework of whistleblowing disclosures. In particular, we argue that whistleblowing is justified inter alia when the information it conveys is of a presumptive interest for a public insofar as it reveals an instance of injustice or violation of a civil or political right done against and unbeknown to some members of a polity.Project: ‘Change of Direction. Fostering Whistleblowing in the Fight against Corruption’ co-funded by the Internal Security Fund of the European Union (Grant Agreement Number: HOME/2014/ISFP/AG/EFCE/7233); SFRH/BPD/108669/2015info:eu-repo/semantics/publishedVersio

Aristotle for the modern Ethicist

Elizabeth Anscombe and Mary Midgley discussed Aristotle’s ethics as an alternative to modern moral philosophy. This idea is best known from Anscombe’s 1958 paper ‘Modern Moral Philosophy’. The mainstream response has been to design a normative theory of ‘virtue ethics’ to rival deontology and consequentialism. This essay argues that that response is inadequate; it misses Anscombe’s point and obscures various aspects of Aristotle’s ethics, in particular his emphasis on friendship and human interconnectedness. This element of Aristotelianism was favoured by Midgley. By returning to Midgley, with the support of Aristotle, it is possible to find an alternative modern Aristotelianism in ethics

Juxtaposing BTE and ATE – on the role of the European insurance industry in funding civil litigation

One of the ways in which legal services are financed, and indeed shaped, is through private insurance arrangement. Two contrasting types of legal expenses insurance contracts (LEI) seem to dominate in Europe: before the event (BTE) and after the event (ATE) legal expenses insurance. Notwithstanding institutional differences between different legal systems, BTE and ATE insurance arrangements may be instrumental if government policy is geared towards strengthening a market-oriented system of financing access to justice for individuals and business. At the same time, emphasizing the role of a private industry as a keeper of the gates to justice raises issues of accountability and transparency, not readily reconcilable with demands of competition. Moreover, multiple actors (clients, lawyers, courts, insurers) are involved, causing behavioural dynamics which are not easily predicted or influenced. Against this background, this paper looks into BTE and ATE arrangements by analysing the particularities of BTE and ATE arrangements currently available in some European jurisdictions and by painting a picture of their respective markets and legal contexts. This allows for some reflection on the performance of BTE and ATE providers as both financiers and keepers. Two issues emerge from the analysis that are worthy of some further reflection. Firstly, there is the problematic long-term sustainability of some ATE products. Secondly, the challenges faced by policymakers that would like to nudge consumers into voluntarily taking out BTE LEI