Facioscapulohumeral disease

The purpose of this study is to discuss several aspects of facioscapulohumeral disease, also called "autosomal dominant facioscapulohumeral muscular dystrophy" or "Landouzy-Dejerine type of muscular dystrophy" or "Landouzy-Dejerine' s disease" . We consider this disorder well defined and recognizable, justifying the term facioscapulohumeral disease, abbreviated FSHD.UBL - phd migration 201

Automated interpretation of benthic stereo imagery

Autonomous benthic imaging, reduces human risk and increases the amount of collected data. However, manually interpreting these high volumes of data is onerous, time consuming and in many cases, infeasible. The objective of this thesis is to improve the scientific utility of the large image datasets. Fine-scale terrain complexity is typically quantified by rugosity and measured by divers using chains and tape measures. This thesis proposes a new technique for measuring terrain complexity from 3D stereo image reconstructions, which is non-contact and can be calculated at multiple scales over large spatial extents. Using robots, terrain complexity can be measured without endangering humans, beyond scuba depths. Results show that this approach is more robust, flexible and easily repeatable than traditional methods. These proposed terrain complexity features are combined with visual colour and texture descriptors and applied to classifying imagery. New multi-dataset feature selection methods are proposed for performing feature selection across multiple datasets, and are shown to improve the overall classification performance. The results show that the most informative predictors of benthic habitat types are the new terrain complexity measurements. This thesis presents a method that aims to reduce human labelling effort, while maximising classification performance by combining pre-clustering with active learning. The results support that utilising the structure of the unlabelled data in conjunction with uncertainty sampling can significantly reduce the number of labels required for a given level of accuracy. Typically 0.00001–0.00007% of image data is annotated and processed for science purposes (20–50 points in 1–2% of the images). This thesis proposes a framework that uses existing human-annotated point labels to train a superpixel-based automated classification system, which can extrapolate the classified results to every pixel across all the images of an entire survey

Genetic and physiological dissection of transpiration efficiency in wheat

OBJECTIVE: To determine the incidence and prevalence of facioscapulohumeral muscular dystrophy (FSHD) in the Netherlands. METHODS: Using 3-source capture-recapture methodology, we estimated the total yearly number of newly found symptomatic individuals with FSHD, including those not registered in any of the 3 sources. To this end, symptomatic individuals with FSHD were available from 3 large population-based registries in the Netherlands if diagnosed within a 10-year period (January 1, 2001 to December 31, 2010). Multiplication of the incidence and disease duration delivered the prevalence estimate. RESULTS: On average, 52 people are newly diagnosed with FSHD every year. This results in an incidence rate of 0.3/100,000 person-years in the Netherlands. The prevalence rate was 12/100,000, equivalent to 2,000 affected individuals. CONCLUSIONS: We present population-based incidence and prevalence estimates regarding symptomatic individuals with FSHD, including an estimation of the number of symptomatic individuals not present in any of the 3 used registries. This study shows that the total number of symptomatic persons with FSHD in the population may well be underestimated and a considerable number of affected individuals remain undiagnosed. This suggests that FSHD is one of the most prevalent neuromuscular disorders

Decolonizar la investigación sobre migraciones : apuntes desde una etnografía colaborativa

En este artículo analizamos los significados asumidos por la idea de "(in)migración(es)" y la categoría de "(in)migrante(s)" en los contextos sociales, políticos y académicos contemporáneos. Resaltando su estrecha relación con el pensamiento de Estado y la colonialidad del poder/saber, nos preguntamos por otros posibles acercamientos a la movilidad humana. Discutimos la etnografía colaborativa, entendida como una metodología decolonial que rechaza las representaciones pasivizantes hegemónicas y aspira a visibilizar los procesos de subjetivación política de las personas junto a las que se investiga. Aportando ejemplos de nuestra propia investigación colaborativa junto a Stop Desahucios-Granada 15M, ilustramos cómo la idea de (in)migración(es) y la categoría "(in)migrante(s)" se han materializado en nuestro contexto, que se encuentra definido por el activismo político y no había sido previamente alterizado como "migratorio". Concluimos resaltando la ambivalencia implícita en estas dos expresiones y reflexionamos sobre los pros y los contras implícitos en su uso.In this paper we analyze the meaning of "immigration" and "immigrant" within contemporary social, political and academic contexts. We emphasize their narrow relation with State thought and the coloniality of power/knowledge and search for alternative approaches to human mobility. With this aim, we discuss collaborative ethnography as a decolonial methodology addressed to visibilize the political subjectivation processes of the people we research with. Drawing on examples from our own collaborative research with Stop Evictions-Granada 15M, we show how the idea of "immigration" and the category "immigrants" have come into being within our field, a space of political activism which had not been previously constructed as a "migratory context". We conclude underlining the ambivalence implicit in the two aforementioned concepts and discuss the pros and cons of using them

Facioscapulohumeral disease

The purpose of this study is to discuss several aspects of facioscapulohumeral disease, also called "autosomal dominant facioscapulohumeral muscular dystrophy" or "Landouzy-Dejerine type of muscular dystrophy" or "Landouzy-Dejerine' s disease" . We consider this disorder well defined and recognizable, justifying the term facioscapulohumeral disease, abbreviated FSHD

Neurologie en neuro-ismen

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Pushing the genetic frontier with facioscapulohumeral muscular dystrophy.

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The startle pattern in the minor form of hyperekplexia

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'Startle disease': van schrik verstijven

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The auditory, vestibular, and oculomotor system in facioscapulohumeral dystrophy

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