Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis

Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. Familial distal renal tubular acidosis (dRTA) and Southeast Asian ovalocytosis (SAO) may coexist in the same patient. Both can originate in mutations of the anion-exchanger 1 gene (AE1), which codes for band 3, the bicarbonate/chloride exchanger in both the red cell membrane and the basolateral membrane of the collecting tubule alpha-intercalated cell. Dominant dRTA is usually due to a mutation of the AE1 gene, which does not alter red cell morphology. SAO is caused by an AE1 mutation that leads to a nine amino acid deletion of red cell band 3, but by itself does not cause dRTA. Recent gene studies have shown that AE1 mutations are responsible for autosomal recessive dRTA in several countries in Southeast Asia; these patients may be homozygous for the mutation or be compound heterozygotes of two different AE1 mutations, one of which is usually the SAO mutation

The influence of the political environment and destination governance on sustainable tourism development: a study of Bled, Slovenia

In the context of sustainable tourism development, there are many studies about the exchange process between residents and tourism, yet this issue is practically unexplored with respect to the political environment of tourism. Therefore, this paper introduces and posits that the political environment is a necessary enabler for implementing sustainable tourism. The authors extend the established three-pillar sustainability concept by adding in the political dimension. Then they surveyed how residents' positive and negative perceptions of tourism impacts determine their satisfaction with life in the tourism destination and thus their support for tourism in their community. The model was empirically tested within the context of the long-established Alpine destination of Bled in Slovenia. The findings confirm the importance of the political environment and question the sustainability of Bled's tourism development. It is suggested that the community has relatively weak destination governance due to the underdeveloped political environment. The survey expands and deepens the tourism sustainability debate by adding in the political environment and how it relates to the emerging growth of research on destination governance. The proposed model can be adapted and applied to any destination in order to improve its governance, including the implementation of sustainable tourism development

Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations

Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive, caused either by homozygosity of a single AE1 mutation or by compound heterozygosity of two different AE1 mutations. We describe two unrelated boys in Sarawak with dRTA associated with compound heterozygosity of AE1 mutations. Both had Southeast Asian ovalocytosis (SAO), a morphological abnormality of red cells caused by a deletion of band 3 residues 400–408. In addition, one boy had a DNA sequence abnormality of band 3 residue (G701D), which has been reported from elsewhere in Southeast Asia. The other boy had the novel sequence abnormality of band 3 (Q759H) and profound hemolytic anemia

Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report

<p>Abstract</p> <p>Introduction</p> <p>Dent's disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. To the best of our knowledge, this is only the third report on the use of growth hormone therapy in a child with poor growth associated with Dent's disease.</p> <p>Case presentation</p> <p>We report on a 7-year-old Montenegrin boy with proteinuria, hypercalciuria, nephrocalcinosis, rickets and short stature with unimpaired growth hormone secretion. A molecular genetic analysis showed S244L substitution on the CLCN5 gene. After two years of conventional treatment with hydrochlorothiazide, laboratory tests revealed more prominent proteinuria, mild hypophosphatemia, increased values of alkaline phosphatase and features of rickets. Phosphate salts, calcitriol, potassium citrate and growth hormone were included in the therapy. After three years of therapy, his adjusted parental stature was 1.53 standard deviations higher than at the initiation of growth hormone therapy. His global kidney functions and levels of proteinuria and calciuria remained relatively stable. In spite of the growth hormone therapy, his tubular reabsorption of phosphate deteriorated.</p> <p>Conclusion</p> <p>Treatment with recombinant human growth hormone may have a positive effect on final height in poorly growing children with Dent's disease and hypophosphatemic rickets. However, it is not possible to reach definite conclusions due to the small sample within the literature and the brief duration of the therapy.</p

C Wright Mills, power and the power elites ? a reappraisal

This paper revisits and presents a critical appraisal of Mills's analysis of power and the power elite. There are signs of a revival of interest in Mills, but recent commentators have shown little interest in the intellectual, social or political context of his analysis. Setting Mills's thesis in its historical context, we consider an element of his project that has been particularly neglected in recent discussion: Mills's search for possible ways of redistributing power and his attempt to forge an ethico-political stance. Reflecting on recent discussion of contemporary elite formations, we comment on what critics might take from Mills in our own time in relation to the analysis of elites and the politics of critical management studies

Understanding the political motivations that shape Rwanda’s emergent developmental state

Twenty years after its horrific genocide, Rwanda has become a model for economic development. At the same time, its government has been criticized for its authoritarian tactics and use of violence. Missing from the often-polarized debate are the connections between these two perspectives. Synthesizing existing literature on Rwanda in light of a combined year of fieldwork, we argue that the GoR is using the developmental infrastructure to deepen state power and expand political control. We first identify the historical pressures that have motivated the Rwanda Patriotic Front (RPF) to re-imagine the political landscape. Sectarian unrest, political rivalry, wider regional insecurity, and aid withdrawal have all pressured the RPF to identify growth as strategic. However, the country’s political transformation extends beyond a prioritisation of growth and encompasses the reordering of the social and physical layout of the territory, the articulation of new ideologies and mindsets, and the provision of social services and surveillance infrastructure. Growth and social control go hand in hand. As such, the paper’s main contribution is to bring together the two sides of the Rwandan debate and place the country in a broader sociological literature about the parallel development of capitalist relations and transformations in state power

The deprivation of certitude, legitimacy and hope: foreign national prisoners and the pains of imprisonment

At the end of March 2015 there were 10,481 foreign nationals (defined as non-UK passport holders) held in prisons in England and Wales, representing 12 per cent of the overall prison population. The latest published figures from December 2014 also indicated that there were a further 394 immigration detainees also being held in various prisons, rather than Immigration Removal Centres, across England and Wales. Although Sykes’s deprivation model with its associated ‘pains of imprisonment’ has been exhaustively explored by penologists, this article argues that there are a new range of ‘pains’ uniquely faced by foreign national prisoners in England and Wales who come under the scrutiny of the Home Office’s Immigration Service. Drawing on quasi-ethnographic fieldwork in a Specialist Foreign National Prison, this article discusses the new pains relating to a lack of certitude, legitimacy and hope with regard to both their carceral and post-carceral lives

Money talks: moral economies of earning a living in neoliberal East Africa

Neoliberal restructuring has targeted not just the economy, but also polity, society and culture, in the name of creating capitalist market societies. The societal repercussions of neoliberal policy and reform in terms of moral economy remain understudied. This article seeks to address this gap by analysing moral economy characteristics and dynamics in neoliberalised communities, as perceived by traders in Uganda and sex workers in Kenya. The interview data reveal perceived drivers that contributed to a significant moral dominance of money, self-interest, short-termism, opportunism and pragmatism. Equally notable are a perceived (i) close interaction between political–economic and moral–economic dynamics, and (ii) significant impact of the political–economic structure on moral agency. Respondents primarily referred to material factors usually closely linked to neoliberal reform, as key drivers of local moral economies. We thus speak of a neoliberalisation of moral economies, itself part of the wider process of embedding and locking-in market society structures in the two countries. An improved political economy of moral economy can help keep track of this phenomenon

Genetic causes of hypercalciuric nephrolithiasis

Renal stone disease (nephrolithiasis) affects 3–5% of the population and is often associated with hypercalciuria. Hypercalciuric nephrolithiasis is a familial disorder in over 35% of patients and may occur as a monogenic disorder that is more likely to manifest itself in childhood. Studies of these monogenic forms of hypercalciuric nephrolithiasis in humans, e.g. Bartter syndrome, Dent’s disease, autosomal dominant hypocalcemic hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium. Thus, Bartter syndrome, an autosomal disease, is caused by mutations of the bumetanide-sensitive Na–K–Cl (NKCC2) co-transporter, the renal outer-medullary potassium (ROMK) channel, the voltage-gated chloride channel, CLC-Kb, the CLC-Kb beta subunit, barttin, or the calcium-sensing receptor (CaSR). Dent’s disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, is due to mutations of the chloride/proton antiporter 5, CLC-5; ADHH is associated with activating mutations of the CaSR, which is a G-protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium–phosphate co-transporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia. These studies have provided valuable insights into the renal tubular pathways that regulate calcium reabsorption and predispose to hypercalciuria and nephrolithiasis

Recovering critique in an age of datafication

This article starts out from the need for critical work on processes of datafication and their consequences for the constitution of social knowledge and the social world. Current social science work on datafication has been greatly shaped by the theoretical approach of Bruno Latour, as reflected in the work of Actor Network Theory and Science and Technology Studies (ANT/STS). The article asks whether this approach, given its philosophical underpinnings, provides sufficient resources for the critical work that is required in relation to datafication. Drawing on Latour’s own reflections about the flatness of the social, it concludes that it does not, since key questions, in particular about the nature of social order cannot be asked or answered within ANT. In the article’s final section, three approaches from earlier social theory are considered as possible supplements to ANT/STS for a social science serious about addressing the challenges that datafication poses for society