Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family.

AIM: To describe a large family with autosomal dominant parkinsonism. BACKGROUND: Seven genes are directly implicated in autosomally inherited parkinsonism. However, there are several multigenerational large families known with no identifiable mutation. MATERIAL AND METHODS: Family members were evaluated clinically, by history and chart review. Genetic investigation included SCA2, SCA3, UCHL1, SNCA, LRRK2, PINK1, PRKN, PGRN, FMR1 premutation, and MAPT. The proband underwent brain fluorodopa PET (FD-PET) scan, and one autopsy was available. RESULTS: Eleven patients had a diagnosis of Parkinson's disease (PD), nine women. Mean age of onset was 52 with tremor-predominant dopa-responsive parkinsonism. Disease progression was slow but severe motor fluctuations occurred. One patient required subthalamic nucleus deep-brain stimulation with a good motor outcome. One patient had mental retardation, schizophrenia and became demented, and another patient was demented. Three patients and also two unaffected subjects had mild learning difficulties. All genetic tests yielded negative results. FD-PET showed marked asymmetric striatal tracer uptake deficiency, consistent with PD. Pathological examination demonstrated no Lewy bodies and immunostaining was negative for alpha-synuclein. CONCLUSION: Apart from a younger age of onset and a female predominance, the phenotype was indistinguishable from sporadic tremor-predominant PD, including FD-PET scan results. As known genetic causes of autosomal dominant PD were excluded, this family harbors a novel genetic defect.

Sensitivity analysis, dominant factors, and robustness of the ECETOC TRA v3, Stoffenmanager 4.5, and ART 1.5 occupational exposure models

Occupational exposure modeling is widely used in the context of the E.U. regulation on the registration, evaluation, authorization, and restriction of chemicals (REACH). First tier tools, such as European Centre for Ecotoxicology and TOxicology of Chemicals (ECETOC) targeted risk assessment (TRA) or Stoffenmanager, are used to screen a wide range of substances. Those of concern are investigated further using second tier tools, e.g., Advanced REACH Tool (ART). Local sensitivity analysis (SA) methods are used here to determine dominant factors for three models commonly used within the REACH framework: ECETOC TRA v3, Stoffenmanager 4.5, and ART 1.5. Based on the results of the SA, the robustness of the models is assessed. For ECETOC, the process category (PROC) is the most important factor. A failure to identify the correct PROC has severe consequences for the exposure estimate. Stoffenmanager is the most balanced model and decision making uncertainties in one modifying factor are less severe in Stoffenmanager. ART requires a careful evaluation of the decisions in the source compartment since it constitutes ∼75% of the total exposure range, which corresponds to an exposure estimate of 20-22 orders of magnitude. Our results indicate that there is a trade off between accuracy and precision of the models. Previous studies suggested that ART may lead to more accurate results in well-documented exposure situations. However, the choice of the adequate model should ultimately be determined by the quality of the available exposure data: if the practitioner is uncertain concerning two or more decisions in the entry parameters, Stoffenmanager may be more robust than ART.

A wolf in sheep"s clothing: carnivory in dominant sea urchins in the Mediterranean

Arbacia lixula and Paracentrotus lividus are the dominant sea urchins in the Mediterranean sublittoral, where they are key structuring species due to their grazing activity. It has been commonly accepted that competition between both species is minimized by specializing in different algal foods. A. lixula is considered to feed mainly on encrusting coralline algae, while P. lividus prefers fleshy macroalgae. We used stable isotope analysis to test if these species occupy different trophic positions at 3 locations in the western Mediterranean and one in Macaronesia. Our results show unambiguously that A. lixula always occupies a higher trophic level than P. lividus, with a δ15N comparable in some locations to strict carnivores such as Actinia schmidti or Marthasterias glacialis. A temporal monitoring at one locality showed that this signature of a higher trophic level is consistent throughout the year. These results are incompatible with the current belief of an herbivorous diet for A. lixula and suggest that it must be considered an omnivore tending to carnivory in Mediterranean ecosystems, feeding at least partially on sessile animals such as Cirripedia, Hydrozoa or Bryozoa. A parallel analysis of gut contents showed a predominance of vegetal items in both species, although A. lixula consistently had a higher abundance of animal components than P. lividus. Our results challenge the validity of using gut content observations alone for characterizing the trophic behaviour of omnivorous marine invertebrates that feed on a variety of food sources with different digestibility.

The conditions for the reproduction of the SAGUAPAC water cooperative in the city of Santa Cruz de la Sierra, Bolivia : discourse analysis

The SAGUAPAC cooperative in the city of Santa Cruz de la Sierra (Eastern Bolivia) is regularly presented as an example of cooperative successes regarding water supply and sanitation. Its efficiency, both economic and technical, is widely considered as the main reason for its attractiveness. However, without denying its importance, we show, through a discourse analysis from and about SAGUAPAC in local media, that moral and non-instrumental factors are crucial in the reproduction of the cooperative. These factors create attachment and affection toward the cooperative, through a storytelling using a four-dimensional rhetoric (mythification, identification, emotionalisation and personification). This storytelling technique, internalized in the local media discourse and materializing the so-called new spirit of capitalism, exploits the affects and instrumentalisation of local myths and legends, as well as the 'camba' ethnic identity. In that, it tends to retain SAGUAPAC members and to canvass new ones, by providing them with recognition in their quality of local community members. However, the mobilisation of social norms and power hierarchies might end up reinforcing the social exclusion of Andean non-camba immigrants, inspite of an a priori inclusive and democratic organisation.

Representations of work and worker in the three generations of knowledge management. Critical Discourse Analysis of selected texts.

The thesis studies the representations of different elements of contemporary work as present in Knowledge Management (KM). KM is approached as management discourse that is seen to affect and influence managerial practices in organizations. As representatives of KM discourse four journal articles are analyzed, using the methodology of Critical Discourse Analysis and the framework of Critical Management Studies, with a special emphasis on the question of structure and agency. The results of the analysis reveal that structural elements such as information technology and organizational structures are strongly present in the most influential KM representations, making their improvement also a desirable course of action for managers. In contrast agentic properties are not in a central role, they are subjugated to structural constraints of varying kind and degree. The thesis claims that one such constraint is KM discourse itself, influencing managerial and organizational choices and decision making. The thesis concludes that the way human beings are represented, studied and treated in management studies such as KM needs to be re-examined. Pro gradu-tutkielmassa analysoidaan työhön ja sen tekijään liittyviä representaatioita Tietojohtamisen kirjallisuudessa. Tietojohtamista tarkastellaan liikkeenjohdollisena diskurssina, jolla nähdään olevan vaikutus organisaatioiden päätöksentekoon ja toimintaan. Tutkielmassa analysoidaan neljä Tietojohtamisen tieteellistä artikkelia, käyttäen metodina kriittistä diskurssianalyysiä. Tutkielman viitekehyksenä on kriittinen liikkeenjohdon tutkimus. Lisäksi työssä pohditaan kysymystä rakenteen ja toimijan välisestä vuorovaikutuksesta. Tutkielman analyysi paljastaa, että tietojohtamisen vaikutusvaltaisimmat representaatiot painottavat rakenteellisia tekijöitä, kuten informaatioteknologiaa ja organisaatiorakenteita. Tämän seurauksena mm. panostukset em. tekijöihin nähdään organisaatioissa toivottavana toimintana. Vastaavasti representaatiot jotka painottavat yksilöitä ja toimintaa ovat em. tekijöille alisteisessa asemassa. Tapaa, jolla yksilöitä kuvataan ja käsitellään Tietojohtamisen diskurssissa, tulisikin laajentaa ja monipuolistaa.

Narrative discourse in interviews to linguistically mixed couples

This article deals with self-referential storytelling in sociolinguistic interviews. It analyzes the personal stories in ten interviews to linguistically heterogeneous couples. For this purpose, it is applied the model of linguistic analysis of drama (Bruner & Weisser 1991) and it identifies and interprets discursive markers of autobiographical storytelling. Therefore it takes into consideration the elements referred to agents and to their actions, to the sequences of events, to the canon or rule, and to the narrator's perspective. At the same time, it proposes to extend our approach to the existence itself of the participants. Resumen.-"Discurso narrativo en entrevistas a parejas lingüísticamente mixtas". Este artículo trata de las narraciones autorreferenciales en entrevistas sociolingüísticas sobre concepciones y usos de las lenguas en familias lingüísticamente mixtas. Analiza los relatos que aparecen en diez entrevistas a padres y madres que forman parejas lingüísticamente heterogéneas. Aplica el modelo de análisis lingüístico del dramatismo (Bruner & Weisser 1991). Identifica e interpreta los marcadores discursivos de la narración autobiográfica. Con este propósito considera los constituyentes que se refieren a los agentes y sus acciones, a las secuencias de sucesos, al canon o norma y a la perspectiva del narrador. Y propone la ampliación del estudio a los guiones de vida de lo actores. Palabras clave: entrevista, relato, narración, pareja, política lingüística de la familia, multilingüismo, marcador discursivo.

What hurts the dominant airlines at hub airports?

This paper estimates a frequency equation to explain the determinants of network airline service levels at their hub airports. Drawing on European data for 2002 - 2013, we find that network airlines reduce frequencies when the share of low - cost airlines increases both on the route and at the hub airport. On the contrary, frequency choices of network airlines are not affected by competition from low - cost airlines operating in nearby secondary airports. We also find some evidence that mergers in Europe may result in a re - organization of the route structure in favor of the hubs of the larger airline.

What hurts the dominant airlines at hub airports?

This paper estimates a frequency equation to explain the determinants of network airline service levels at their hub airports. Drawing on European data for 2002 - 2013, we find that network airlines reduce frequencies when the share of low - cost airlines increases both on the route and at the hub airport. On the contrary, frequency choices of network airlines are not affected by competition from low - cost airlines operating in nearby secondary airports. We also find some evidence that mergers in Europe may result in a re - organization of the route structure in favor of the hubs of the larger airline.

Braving the Storm: How Are Global Biofuel Policies Sustained Despite Being Contested? An Analysis of the Biofuel Discourses of the EU, Brazil and Mozambique

Considered as a remedy to multiple problems that our world is facing, biofuels are nowadays promoted on a global scale. Despite this globalised approach, however, biofuels are heavily contested. Not only the social implications of biofuels are disputed and uncertain, particularly in countries of the global South, but also their environmental and economic rationales. Given these huge controversies, policies promoting biofuels would seem difficult to maintain. Yet, support for them has been surprisingly well established on the political agendas. With the aim of understanding this puzzle, this study asks how the dominant approach to biofuels has been sustained on a global level. In order to answer this question, the meanings and assumptions in biofuel discourses are explored through the lens of Maarten Hajer’s “argumentative” discourse analysis. Based on the existence of a “partnership for sustainable bioenergy” between the EU, Brazil and Mozambique, the study takes these three locations as case studies. The analysis reveals that various discursive strategies, including a particular problem construction and the use of two main story-lines, have played an important role in ensuring the permanence of the global approach to biofuels. Moreover, while the discourse of critics against biofuels demonstrates that there is room for contestation, the analysis finds that the opponents’ discourse largely fails to target the most salient justification for biofuels. A more effective strategy for critics would therefore be to also question the problem constructions underpinning this main justification in the global discourse.

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

PURPOSE: To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical features of a recurrent novel mutation, and to study the clinical features of adRP patients. DESIGN: Retrospective clinical and molecular genetic study. METHODS: Clinical investigations included visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, and electroretinogram (ERG) recording. PRPH2 was screened by Sanger sequencing in a cohort of 310 French families with adRP. Peripherin-2 protein was produced in yeast and analyzed by Western blot. RESULTS: We identified 15 mutations, including 6 novel and 9 previously reported changes in 32 families, accounting for a prevalence of 10.3% in this adRP population. We showed that a new recurrent p.Leu254Gln mutation leads to protein aggregation, suggesting abnormal folding. The clinical severity of the disease in examined patients was moderate with 78% of the eyes having 1-0.5 of visual acuity and 52% of the eyes retaining more than 50% of the visual field. Some patients characteristically showed vitelliform deposits or macular involvement. In some families, pericentral RP or macular dystrophy were found in family members while widespread RP was present in other members of the same families. CONCLUSIONS: The mutations in PRPH2 account for 10.3% of adRP in the French population, which is higher than previously reported (0%-8%) This makes PRPH2 the second most frequent adRP gene after RHO in our series. PRPH2 mutations cause highly variable phenotypes and moderate forms of adRP, including mild cases, which could be underdiagnosed.

A framework for the analysis of CLIL lecturers’ discourse from a genre perspective

Internationalization strategies and the European Space of Higher Education are causing a growing interest in English medium instruction (EMI). University linguistic and internationalization policies are attempting to provide lectures with the required training and education. Linguists can supply not only the knowledge of the language but the knowledge about language which may enable lecturers to increase their academic language competence autonomously. This paper presents a framework for the analysis of lecturers’ discourse to trigger reflection about the linguistic needs in CLIL/EMI contexts.