Nephronophthisis: a genetically diverse ciliopathy.

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating defect. Renal ultrasound typically shows normal kidney size with increased echogenicity and corticomedullary cysts. Importantly, NPHP is associated with extra renal manifestations in 10-15% of patients. The most frequent extrarenal association is retinal degeneration, leading to blindness. Increasingly, molecular genetic testing is being utilised to diagnose NPHP and avoid the need for a renal biopsy. In this paper, we discuss the latest understanding in the molecular and cellular pathogenesis of NPHP. We suggest an appropriate clinical management plan and screening programme for individuals with NPHP and their families

Los servicios ambientales de los bosques

La relación social con el bosque y los servicios que éste ofrece han experimentado modificaciones a lo largo de la historia. La incorporación de los nuevos conceptos de valor total a los bosques y la ampliación de su marco de interés desde las ciencias forestales hacia otros agentes sociales y otras disciplinas del conocimiento han abierto la puerta a una apreciación renovada de los servicios ofrecidos por los ecosistemas forestales. En la actualidad se intentan desarrollar mecanismos que permitan captar parte de este valor como estrategia para conservar y gestionar los bosques de un modo sostenible. En este artículo se revisan los sistemas de valoración de los servicios ambientales de los bosques y su comercialización, concluyendo con algunas observaciones sobre las dificultades de su implementación práctica y el papel que puedan desempeñar en el futuro de los bosques

Priorities for International Forest Research

The world is moving towards knowledge-based societies. Economies are globalizing. The global public goods value of forests is being recognised at the same time that the traditional role of state forest agencies in production forestry is being taken over by multi-national corporations. At the same time emerging technologies are greatly enhancing our ability to assess and monitor forest attributes, process and disseminate information, and enhance forest production. All of these changes will have an impact on how forest research is organized, who does it, and who pays for it. It seems inevitable that much traditional forestry research concerned with sustainability and productivity enhancement at the stand level, will be taken over by the private sector. However, there is going to be a major challenge in finding resources for research in support of the public goods values of forests at both the local, national and global levels. There is a widely held view that we are in the midst of a world forest crisis. It is not a crisis of declining production but one of erosion of public goods, environmental values of forests. So far, we have not seen a concerted scientific response to this crisis. The Inter-Governmental Panel on Forests (IPF) has given us the mandate to orchestrate such a response and the World Forestry Congress is a valuable opportunity to provide impetus to a new vision of forest science for the 21st century

Functional modelling of a novel mutation in BBS5.

BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known causative genes (BBS1-18). The primary clinical features are renal abnormalities, rod-cone dystrophy, post-axial polydactyly, learning difficulties, obesity and male hypogonadism. RESULTS: We describe the clinical phenotype in three Saudi siblings in whom we have identified a novel mutation in exon 12 of BBS5 (c.966dupT; p.Ala323CysfsX57). This single nucleotide duplication creates a frame shift results in a predicted elongated peptide. Translation blocking Morpholino oligonucleotides were used to create zebrafish bbs5 morphants. Morphants displayed retinal layering defects, abnormal cardiac looping and dilated, cystic pronephric ducts with reduced cilia expression. Morphants also displayed significantly reduced dextran clearance via the pronephros compared to wildtype embryos, suggesting reduced renal function in morphants. The eye, kidney and heart defects reported in morphant zebrafish resemble the human phenotype of BBS5 mutations. The pathogenicity of the novel BBS5 mutation was determined. Mutant mRNA was unable to rescue pleiotropic phenotypes of bbs5 morphant zebrafish and in cell culture we demonstrate a mislocalisation of mutant BBS5 protein which fails to localise discretely with the basal body. CONCLUSIONS: We conclude that this novel BBS5 mutation has a deleterious function that accounts for the multisystem ciliopathy phenotype seen in affected human patients

Мультипарадигмальний підхід до аналізу феномену нігілізму

У статті розглянуто нігілізм як неоднозначне й поліморфне поняття. Досліджено різні підходи до тлумачення та розв’язання питань, пов’язаних із нігілізмом. Розкрито людиномірність нігілізму в контексті відстеження варіативного смислового навантаження феномену. Встановлено, що нігілізм потрібно позиціонувати як спосіб пробудження людського духу, заперечення деструктивного конформізму й відсутності опору (пасивний песимізм).В статье рассмотрен нигилизм как неоднозначное и полиморфное понятие. Исследованы различные подходы к толкованию и решению вопросов, связанных с нигилизмом. Раскрыта человекомерность нигилизма в контексте отслеживания вариативной смысловой нагрузки феномена. Установлено, что нигилизм нужно позиционировать как способ пробуждения человеческого духа, отрицание деструктивного конформизма и отсутствия сопротивления (пассивный пессимизм).Nihilism is considered as ambiguous and polymorphic concept. Different approaches to the interpretation and solution of issues associated with nihilism are investigated. Human measurement of nihilism in the context of tracking meaning of varied semantic capacity of the phenomenon is revealed. It is determined that nihilism must be positioned as a way of awakening of the human spirit, denial of destructive conformism and absence of resistance (passive pessimism)

Study of KS KL Coupled Decays and KL -Be Interactions with the CMD-2 Detector at VEPP-2M Collider

The integrated luminosity about 4000 inverse nanobarn of around phi meson mass ( 5 millions of phi mesons) has been collected with the CMD-2 detector at the VEPP-2M collider. A latest analysis of the KS KL coupled decays based on 30 % of available data is presented in this paper. The KS KL pairs from phi meson decays were reconstructed in the drift chamber when both kaons decayed into two charged particles. From a sample of 1423 coupled decays a selection of candidates to the CP violating KL into pi+ pi- decay was performed. CP violating decays were not identified because of the domination of events with a KL regenerating at the Be beam pipe into KS and a background from KL semileptonic decays. The regeneration cross section of 110 MeV/c KL mesons was found to be 53 +- 17 mb in agreement with theoretical expectations. The angular distribution of KS mesons after regeneration and the total cross section of KL for Be have been measured.Comment: 14 pages, 8 figure

Health inequalities, fundamental causes and power:Towards the practice of good theory

Reducing health inequalities remains a challenge for policy makers across the world. Beginning from Lewin’s famous dictum that “there is nothing as practical as a good theory”, this paper begins from an appreciative discussion of ‘fundamental cause theory’, emphasizing the elegance of its theoretical encapsulation of the challenge, the relevance of its critical focus for action, and its potential to support the practical mobilisation of knowledge in generating change. Moreover, it is argued that recent developments in the theory, provide an opportunity for further theoretical development focused more clearly on the concept of power (Dickie et al. 2015). A critical focus on power as the essential element in maintaining, increasing or reducing social and economic inequalities – including health inequalities – can both enhance the coherence of the theory, and also enhance the capacity to challenge the roots of health inequalities at different levels and scales. This paper provides an initial contribution by proposing a framework to help to identify the most important sources, forms and positions of power, as well as the social spaces in which they operate. Subsequent work could usefully test, elaborate and adapt this framework, or indeed ultimately replace it with something better, to help focus actions to reduce inequalities

Looking forward through the past: identification of 50 priority research questions in palaeoecology

1. Priority question exercises are becoming an increasingly common tool to frame future agendas in conservation and ecological science. They are an effective way to identify research foci that advance the field and that also have high policy and conservation relevance. 2. To date, there has been no coherent synthesis of key questions and priority research areas for palaeoecology, which combines biological, geochemical and molecular techniques in order to reconstruct past ecological and environmental systems on time-scales from decades to millions of years. 3. We adapted a well-established methodology to identify 50 priority research questions in palaeoecology. Using a set of criteria designed to identify realistic and achievable research goals, we selected questions from a pool submitted by the international palaeoecology research community and relevant policy practitioners. 4. The integration of online participation, both before and during the workshop, increased international engagement in question selection. 5. The questions selected are structured around six themes: human–environment interactions in the Anthropocene; biodiversity, conservation and novel ecosystems; biodiversity over long time-scales; ecosystem processes and biogeochemical cycling; comparing, combining and synthesizing information from multiple records; and new developments in palaeoecology. 6. Future opportunities in palaeoecology are related to improved incorporation of uncertainty into reconstructions, an enhanced understanding of ecological and evolutionary dynamics and processes and the continued application of long-term data for better-informed landscape management