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ObjectiveBarth syndrome is an X-linked recessive disorder characterized by dilated cardiomyopathy, neutropenia, 3-methylglutaconic aciduria, abnormal mitochondria, variably expressed skeletal myopathy, and growth delay. The disorder is caused by mutations in the tafazzin (TAZ/G4.5) gene located on Xq28. We report a novel exonic splicing mutation in the TAZ gene in a patient with atypical Barth syndrome.Patient & methodsThe 4-month-old proband presented with respiratory distress, neutropenia, and dilated cardiomyopathy with reduced ejection fraction of 10%. No 3-methylglutaconic aciduria was detected on repeated urine organic acid analyses. Family history indicated that his maternal uncle died of endocardial fibroelastosis and dilated cardiomyopathy at 26 months. TAZ DNA sequencing, mRNA analysis, and cardiolipin analysis were performed.ResultsA novel nucleotide substitution c.553A>G in exon 7 of the TAZ gene was identified in the proband, predicting an amino acid substitution p.Met185Val. However, this mutation created a new splice donor signal within exon 7 causing mis-splicing of the message, producing two messages that only differ in the presence/absence of exon 5; these retain intron 6 and have only 11 bases of exon 7. Cardiolipin analysis confirmed the loss of tafazzin activity. The proband's mother, maternal aunt, and grandmother carry the same mutation.ConclusionsThe identification of a TAZ gene mutation, mRNA analysis, and monolysocardiolipin/cardiolipin ratio determination were important for the diagnosis and genetic counseling in this family with atypical Barth syndrome that was not found to be associated with 3-methylglutaconic aciduria.

This article presents a qualitative systematic review of English-language academic articles on approaches adopted by the Chinese government to overcome fragmentation and disconnection in water governance. We find that the Chinese government has deployed technical, institutional and discursive instruments, ranging from 'hard' to 'soft' ways, to improve connectivity between different administrative levels, functional agencies and territorially based units. Although these approaches are conducive to reconciling conflicts, boosting collaboration and bridging gaps in interjurisdictional, cross-level and cross-sectoral interactions, they also have unexpected implications for cost-effectiveness, practicality and sustainability. [ABSTRACT FROM AUTHOR]

Interactions between NGOs and rural communities in China are an important yet understudied subject. By examining a water conservation project undertaken by an international NGO, this article probes how NGOs and rural communities interact through village cadres, who have considerable influence in shaping the operation and outcomes of NGO projects. In this case, the international NGO struggled to fulfill its aspirations despite making strategic adjustments to either avoid or form alliances with the village cadres. The agency problems inherent in the multiple principal–agent relationships between village cadres and the local government, between village cadres and villagers, and between village cadres and the NGO, gave rise to complicated dynamics of selective implementation by the village cadres, thus creating local constraints on the NGO's community project. [ABSTRACT FROM AUTHOR]

Traditional concerns regarding Hong Kong's water security have centred on water quantity, quality and pricing. In contrast, this article embraces an integrative conceptualization of water security from a governance perspective. A technocratic and supply-oriented water system may overlook challenges stemming from scalar mismatches at the territorial, institutional and discursive levels, as well as at the science–policy interface. Resilience thinking could identify new areas of concern and provide contextually sensitive insights into Hong Kong's water security, which will be subject to the restructuring of the water governance system, which concerns changing discourses, power relations and institutional mechanisms. [ABSTRACT FROM AUTHOR]

The applications of payments for ecosystem/environmental services (PES) are diverse. However, the changing characteristics of these applications in different contexts have not been adequately elucidated. This article provides a conceptual analysis of China's water eco-compensation mechanism (ECM), a notion reported in the PES literature, through the lens of public–private, state–market, central–local and interjurisdictional relationships. It argues that the water ECM is essentially a state-centric utilitarian approach to mediating regional conflicts and inequalities. The Chinese practices of water ECM indicate an alternative approach to incentive-based conservation, highlighting the potential of integrating government-led instruments with market-oriented mechanisms in the development of a PES framework. [ABSTRACT FROM AUTHOR]

Urban water governance in China has received increasing academic and policy attention owing to frequent urban water crises. Drawing on documentary analysis and field investigations, this article analyzes the administrative system and recent policy developments vis-à-vis urban water governance in China. It demonstrates the main problems of, and mechanisms for, interdepartmental and interjurisdictional coordination, and reviews new policy instruments addressing urgent urban water governance issues. The article argues that coordination mechanisms such as the river chief system are promising but their long-term effectiveness remains to be clarified, and more attention should be paid to policy enforcement and market mechanisms. [ABSTRACT FROM AUTHOR]

Studies on peasant resistance in China have been typically associated with antagonistic actions against the state. This article examines a new form of peasant resistance nested in interactions between peasants and a non-governmental organization (NGO). Through the lens of a post-earthquake reconstruction programme in which peasants cannot be simply regarded as subordinates or a powerless group, it offers an alternative view on theories of 'rightful resistance' and 'everyday forms of resistance'. With rural relations become more complex, the authors argue that contextually sensitive analyses which include multilateral interactions are needed for more in-depth understanding of diverse peasant resistance in contemporary China. [ABSTRACT FROM AUTHOR]

In China, water conflicts have been traditionally framed as the external costs of economic development and tackled with technocratic measures. This study examines water conflicts through the lens of water diversion, water allocation and water functional zoning. It reframes water conflicts as a result of coordination problems nested in complex inter-jurisdictional interactions. With a game-theoretic illustration, it identifies that individual and group heterogeneities are two challenges to effective coordination. It argues that China’s state-centric water institutions are tailored to optimize overall social utilities, yet they constrain coordination due to insufficient costs and benefits redistribution mechanisms at the local level. [ABSTRACT FROM PUBLISHER]