Further evidence of linkage at 7p22 with familial hyperaldosteronism type II and exclusion of genetic defects in the RBAK coding regions

Once thought rare, primary aldosteronism (PAL) is now reported to be responsible for 5–10% of hypertension. Unlike familial hyperaldosteronism type I (FH-I), FH-II is not glucocorticoidremediable and not associated with the hybrid CYP11B1/CYP11B2 gene mutation. At least five times more common than FH-I, FH-II is clinically indistinguishable from apparently sporadic PAL, suggesting an even higher incidence. Studies performed in collaboration with C Stratakis (NIH, Bethesda) on our largest Australian family (eight affected members) demonstrated linkage at chromosome 7p22. Linkage at this region was also found in a South American family (DNA provided by MI New, Mount Sinai School of Medicine, New York) and in a second Australian family. The combined multipoint LOD score for these 3 families is 4.61 (q = 0) with markers D7S462 and D7S517, providing strong support for this locus harbouring mutations responsible for FH-II. A newly identified recombination event in our largest Australian family has narrowed the region of linkage by 1.8 Mb, permitting exclusion of approximately half the genes residing in the originally reported 5 Mb linked locus. Candidate genes that are involved in cell cycle control are of interest as adrenal hyperplasia and adrenal adenomas are common in FH-II patients. A novel candidate gene in this linked region produces the retinoblastoma-associated Kruppel-associated box protein (RBaK) which interacts with the retinoblastoma gene product to repress the expression of genes activated by members of the E2F family of transcription factors.

Low Volatility Options and Numerical Diffusion of Finite Difference Schemes

2000 Mathematics Subject Classification: 65M06, 65M12.

Internet use by patients with bipolar disorder:results from an international multisite survey

There is considerable international interest in online education of patients with bipolar disorder, yet little understanding of how patients use the Internet and other sources to seek information. 1171 patients with bipolar disorder diagnosis in 17 countries completed a paper-based, anonymous survey. 81% of the patients used the Internet, a percentage similar to the general public. Older age, less education, and challenges in country telecommunications infrastructure and demographics decreased the odds of using the Internet. About 78% of the Internet users looked online for information on bipolar disorder or 63% of the total sample. More years of education in relation to the country mean, and feeling very confident about managing life decreased the odds of seeking information on bipolar disorder online, while having attended support groups increased the odds. Patients who looked online for information on bipolar disorder consulted medical professionals plus a mean of 2.3 other information sources such as books, physician handouts, and others with bipolar disorder. Patients not using the Internet consulted medical professionals plus a mean of 1.6 other information sources. The percentage of patients with bipolar disorder who use the Internet is about the same as the general public. Other information sources remain important.

Data compilation on the biological response to ocean acidification: environmental and experimental context of data sets and related literature

The exponential growth of studies on the biological response to ocean acidification over the last few decades has generated a large amount of data. To facilitate data comparison, a data compilation hosted at the data publisher PANGAEA was initiated in 2008 and is updated on a regular basis (doi:10.1594/PANGAEA.149999). By January 2015, a total of 581 data sets (over 4 000 000 data points) from 539 papers had been archived. Here we present the developments of this data compilation five years since its first description by Nisumaa et al. (2010). Most of study sites from which data archived are still in the Northern Hemisphere and the number of archived data from studies from the Southern Hemisphere and polar oceans are still relatively low. Data from 60 studies that investigated the response of a mix of organisms or natural communities were all added after 2010, indicating a welcomed shift from the study of individual organisms to communities and ecosystems. The initial imbalance of considerably more data archived on calcification and primary production than on other processes has improved. There is also a clear tendency towards more data archived from multifactorial studies after 2010. For easier and more effective access to ocean acidification data, the ocean acidification community is strongly encouraged to contribute to the data archiving effort, and help develop standard vocabularies describing the variables and define best practices for archiving ocean acidification data.

Coastline evolution rates of Portugal

Regional/global-scale information on coastline rates of change and trends is extremely valuable, but national-scale studies are scarce. A widely accepted standardized methodology for analysing long-term coastline change has been difficult to achieve, but is essential to conduct an integrated and holistic approach to coastline evolution and hence support coastal management actions. Additionally, databases providing knowledge on coastline evolution are of key importance to support both coastal management experts and users. The main objective of this work is to present the first systematic, global and consistent long-term coastline evolution data of Portuguese mainland low-lying sandy. The methodology used quantifies coastline evolution using an unique and robust coastline indicator (the foredune toe), which is independent of short-term changes. The dataset presented comprises: 1) two polyline sets, mapping the 1958 and 2010 sandy beach-dune systems coastline, both optimized for working at 1:50 000 scale or smaller, and 2) one polyline set representing long-term change rates between 1958 and 2010, estimated at each 250 m. Results show beach erosion as the dominant trend, with a mean change rate of -0.24 ± 0.01 m/year for all mainland Portuguese beach-dune systems. Although erosion is dominant, this evolution is variable in signal and magnitude in different coastal sediment cell and also within each cell. The most relevant beach erosion issues were found in the coastal stretches of Espinho - Torreira and Costa Nova - Praia da Mira, both at sub-cell 1b; Cova Gala - Leirosa, at sub-cell 1c and Cova do Vapor - Costa da Caparica, at cell 4. Cells 1 and 4 exhibit a history of major human interventions interfering with the coastal system, many of which originated and maintained a sediment deficit. In contrast, cells 5 and 6 have been less intervened and show stable or moderate accretion behaviour.

Vulnerable children, stigmatised smokers : The social construction of target audiences in media debates on policies regulating smoking in vehicles

Acknowledgements S.H., S.S. and S.D. developed the study concept and gained funding for the work. S.H. developed the study design. J.B. and H.W. drafted the manuscript. J.B. and H.W. developed the coding frame and coded the articles. S.H., S.S. and S.D. critically revised the manuscript. Funding The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This project was funded by Cancer Research UK (C47682/A16930) and the Scottish School of Public Health Research. Sheila Duffy is Chief Executive of ASH Scotland. Heide Weishaar and Shona Hilton are funded by the UK Medical Research Council as part of the Informing Healthly Public Policy programme (MC_UU12017-15) at the MRC/CSO Social and Public Health Sciences Unit, University of Glasgow. The authors declare no additional conflicting interest.

Online information seeking by patients with bipolar disorder:results from an international multisite survey

Background: Information seeking is an important coping mechanism for dealing with chronic illness. Despite a growing number of mental health websites, there is little understanding of how patients with bipolar disorder use the Internet to seek information. Methods: A 39 question, paper-based, anonymous survey, translated into 12 languages, was completed by 1222 patients in 17 countries as a convenience sample between March 2014 and January 2016. All patients had a diagnosis of bipolar disorder from a psychiatrist. Data were analyzed using descriptive statistics and generalized estimating equations to account for correlated data. Results: 976 (81 % of 1212 valid responses) of the patients used the Internet, and of these 750 (77 %) looked for information on bipolar disorder. When looking online for information, 89 % used a computer rather than a smartphone, and 79 % started with a general search engine. The primary reasons for searching were drug side effects (51 %), to learn anonymously (43 %), and for help coping (39 %). About 1/3 rated their search skills as expert, and 2/3 as basic or intermediate. 59 % preferred a website on mental illness and 33 % preferred Wikipedia. Only 20 % read or participated in online support groups. Most patients (62 %) searched a couple times a year. Online information seeking helped about 2/3 to cope (41 % of the entire sample). About 2/3 did not discuss Internet findings with their doctor. Conclusion: Online information seeking helps many patients to cope although alternative information sources remain important. Most patients do not discuss Internet findings with their doctor, and concern remains about the quality of online information especially related to prescription drugs. Patients may not rate search skills accurately, and may not understand limitations of online privacy. More patient education about online information searching is needed and physicians should recommend a few high quality websites.

Chemical approaches for doping nanodevice architectures

Advanced doping technologies are key for the continued scaling of semiconductor devices and the maintenance of device performance beyond the 14 nm technology node. Due to limitations of conventional ion-beam implantation with thin body and 3D device geometries, techniques which allow precise control over dopant diffusion and concentration, in addition to excellent conformality on 3D device surfaces, are required. Spin-on doping has shown promise as a conventional technique for doping new materials, particularly through application with other dopant methods, but may not be suitable for conformal doping of nanostructures. Additionally, residues remain after most spin-on-doping processes which are often difficult to remove. In-situ doping of nanostructures is especially common for bottom-up grown nanostructures but problems associated with concentration gradients and morphology changes are commonly experienced. Monolayer doping (MLD) has been shown to satisfy the requirements for extended defect-free, conformal and controllable doping on many materials ranging from traditional silicon and germanium devices to emerging replacement materials such as III-V compounds but challenges still remain, especially with regard to metrology and surface chemistry at such small feature sizes. This article summarises and critically assesses developments over the last number of years regarding the application of gas and solution phase techniques to dope silicon-, germanium- and III-V-based materials and nanostructures to obtain shallow diffusion depths coupled with high carrier concentrations and abrupt junctions.

Seawater carbonate chemistry and the photophysiology of Thalassiosira pseudonana (Bacillariophyceae) and Emiliania huxleyi (Haptophyta) in a laboratory experiment

Increasing anthropogenic carbon dioxide is causing changes to ocean chemistry, which will continue in a predictable manner. Dissolution of additional atmospheric carbon dioxide leads to increased concentrations of dissolved carbon dioxide and bicarbonate and decreased pH in ocean water. The concomitant effects on phytoplankton ecophysiology, leading potentially to changes in community structure, are now a focus of concern. Therefore, we grew the coccolithophore Emiliania huxleyi (Lohmann) W. W. Hay et H. Mohler and the diatom strains Thalassiosira pseudonana (Hust.) Hasle et Heimdal CCMP 1014 and T. pseudonana CCMP 1335 under low light in turbidostat photobioreactors bubbled with air containing 390 ppmv or 750 ppmv CO2. Increased pCO2 led to increased growth rates in all three strains. In addition, protein levels of RUBISCO increased in the coastal strains of both species, showing a larger capacity for CO2 assimilation at 750 ppmv CO2. With increased pCO2, both T. pseudonana strains displayed an increased susceptibility to PSII photoinactivation and, to compensate, an augmented capacity for PSII repair. Consequently, the cost of maintaining PSII function for the diatoms increased at increased pCO2. In E. huxleyi, PSII photoinactivation and the counter-acting repair, while both intrinsically larger than in T. pseudonana, did not change between the current and high-pCO2 treatments. The content of the photosynthetic electron transport intermediary cytochrome b6/f complex increased significantly in the diatoms under elevated pCO2, suggesting changes in electron transport function.

Critical bed shear stress and threshold of motion of maërl biogenic gravel

Critical bed shear stress for incipient motion has been determined for biogenic free-living coralline algae known as maërl. Maërl from three different sedimentary environments (beach, intertidal, and open marine) in Galway Bay, west of Ireland have been analysed in a rotating annular flume and linear flume. Velocity profile measurements of the benthic boundary layer, using an Acoustic Doppler Velocimeter, have been obtained in four different velocity experiments. The bed shear stress has been determined using three methods: Law of the Wall, Turbulent Kinetic Energy and Reynolds Stress. The critical Shields parameter has been estimated as a non-dimensional mobility number and the results have been compared with the Shields curve for natural sand. Maërl particles fall below this curve because its greater angularity allows grains to be mobilised easier than hydraulically equivalent particles. From previous work, the relationship between grain shape and the settling velocity of maërl suggests that the roughness is greatest for intertidal maërl particles. During critical shear stress determinations, beds of such rough particles exhibited the greatest critical shear stress probably because the particle thalli interlocked and resisted entrainment. The Turbulent Kinetic Energy methodology gives the most consistent results, agreeing with previous comparative studies. Rarely-documented maërl megaripples were observed in the rotating annular flume and are hypothesised to form at velocities ~10 cm s-1 higher than the critical threshold velocity, where tidal currents, oscillatory flow or combined-wave current interaction results in the preferential transport of maërl. A determination of the critical bed shear stress of maërl allows its mobility and rate of erosion and deposition to be evaluated spatially in subsequent applications to biological conservation management.

Towards a Definition of Excellence in Sport Coaching

In this paper,we propose different definitions of coaching excellence based on two principles. First,the application of coaching skill,as in any other domain of excellence,is context-dependent. Second, excellent coaches are knowledgeable and constantly assemble mental models that enable them to meet their athletes' needs and to effectively manage the central duties of coaching - organization, training, and competition. Four categories of coaches and corresponding definitions are proposed based on the characteristics of athletes and the developmentally-appropriate sport contexts: 1) participation coaches for children, 2) participation coaches for teens and adults, 3) performance coaches for young adolescents, 4) performance coaches for older adolescents and adults.

Antropología de la Conservación en España. Balance y perspectivas

En este artículo presentamos un balance de la Antropología de la Conservación en el Estado español. Durante las últimas décadas, la protección de los espacios naturales ha aumentado de una manera exponencial en todo el mundo. A la vez que se extendía esta patrimonialización de la naturaleza, los trabajos etnográficos sobre las áreas protegidas han ido ganando terreno dentro de la disciplina y, en particular, en el campo de la Antropología Ambiental. La mencionada bibliografía ha puesto de relieve los múltiples aspectos derivados de las nuevas políticas territoriales de regulación, apropiación y mercantilización de la ‘naturaleza’. En este trabajo realizamos una revisión exhaustiva de la producción generada a raíz de este interés por las áreas protegidas en nuestro país subrayando sus principales aportaciones, características y debilidades. De este modo pretendemos reflexionar acerca de su continuidad, con el fin de evitar la mera reiteración y favorecer el avance en sus resultados.