Genome-wide association of multiple complex traits in outbred mice by ultra low-coverage sequencing

We thank the High-Throughput Genomics Group at the Wellcome Trust Centre for Human Genetics and the Wellcome Trust Sanger Institute for the generation of the sequencing data. This work was funded by Wellcome Trust grant 090532/Z/09/Z (J.F.). Primary phenotyping of the mice was supported by the Mary Lyon Centre and Mammalian Genetics Unit (Medical Research Council, UK Hub grant G0900747 91070 and Medical Research Council, UK grant MC U142684172). D.A.B acknowledges support from NIH R01AR056280. The sleep work was supported by the state of Vaud (Switzerland) and the Swiss National Science Foundation (SNF 14694 and 136201 to P.F.). The ECG work was supported by the Netherlands CardioVascular Research Initiative (Dutch Heart Foundation, Dutch Federation of University Medical Centres, the Netherlands Organization for Health Research and Development, and the Royal Netherlands Academy of Sciences) PREDICT project, InterUniversity Cardiology Institute of the Netherlands (ICIN; 061.02; C.A.R., C.R.B). Na Cai is supported by the Agency of Science, Technology and Research (A*STAR) Graduate Academy. The authors wish to acknowledge excellent technical assistance from: Ayako Kurioka, Leo Swadling, Catherine de Lara, James Ussher, Rachel Townsend, Sima Lionikaite, Ausra S. Lionikiene, Rianne Wolswinkel and Inge van der Made. We would like to thank Thomas M Keane and Anthony G Doran for their help in annotating variants and adding the FVB/NJ strain to the Mouse Genomes Project.

Process Selection Using Variation and Cost Relations

Variations are inherent in all manufacturing processes and can significantly affect the quality of a final assembly, particularly in multistage assembly systems. Existing research in variation management has primarily focused on incorporating GD&T factors into variation propagation models in order to predict product quality and allocate tolerances. However, process induced variation, which has a key influence on process planning, has not been fully studied. Furthermore, the link between variation and cost has not been well established, in particular the effect that assembly process selection has on the final quality and cost of a product. To overcome these barriers, this paper proposes a novel method utilizing process capabilities to establish the relationship between variation and cost. The methodology is discussed using a real industrial case study. The benefits include determining the optimum configuration of an assembly system and facilitating rapid introduction of novel assembly techniques to achieve a competitive edge.

Classifying Child Maltreatment by Brain Imaging Data

Thesis (Master's)--University of Washington, 2016-08

Feminist Street Performances in Puerto Rico: Alternative Imaginaries Shifting the Ideal(ized) National Body

Thesis (Ph.D.)--University of Washington, 2016-08

Hallux rigidus: Arthroplasty or arthrodesis. What technique produces better results?

Hallux rígidus (HR) affects the first metatarsophalangeal joint (MTPJ) between 35% and 60% of the population over 65 years and there are multiple ways of treatment. Depending on the radiological stage where you find the deformity determines the procedure to be performed; in the early stages cheilectomy techniques and corrective osteotomy is performed while the more advanced ratings, the surgeon chooses destructive techniques considered as arthrodesis and arthroplasty. This final of degree project aims to focus on 1 MTPJ destructive techniques to clarify which of the procedures generates better results by a number of parameters; outcomes of the American Orthopaedic Foot scale and Ankle Society Hallux metatarsophalangeal Interphalangeal-scale (AOFAS), range of motion (ROM) of the 1ºAMTF, radiological classification. As for the implant arthroplasty technique, this article offers information on material and design that generates better relating to patient characteristics such as age, inflammatory joint diseases, viability and durability of the implant results. The conclusion from this review is that the values obtained in the arthrodesis according AOFAS decrease due to loss of mobility, but both techniques have similar values of effectiveness and concludes with the decision that the technique used is determined taking into account various factors and patient characteristics. Keywords: Hallux rígidus; (Hallux Rígidus) and surgery treatment; Hallux Rígidus arthrodesis; Hallux Rígidus arthroplasty; Hallux Rígidus (arthroplasty and arthrodesis).

Contact dermatitis from shoes: an update

Contact dermatitis is a common inflammatory skin condition characterized by erythematous and pruritic skin lesions that occur after contact with a foreign substance. There are two forms of contact dermatitis: irritant and allergic. Irritant contact dermatitis is caused by the non–immune-modulated irritation of the skin by a substance, leading to skin changes. Allergic contact dermatitis is a delayed hypersensitivity reaction in which a foreign substance comes into contact with the skin; skin changes occur after reexposure to the substance. A medical condition referred to as “shoe dermatitis” is a form of contact dermatitis caused by the contact of the foot with parts of the shoe due to these materials. Shoe dermatitis is a diagnostic and therapeutic challenge and is a common type of contact dermatitis. It is imperative the foot and ankle physician become familiar with recognizing signs and symptoms of shoe dermatitis so that their patients can be accurately diagnosis and appropriately treated to avoid secondary infections and disability. This review will first present causative factors for the etiology of shoe contact dermatitis supported by clinical-based evidence as found in the medical literature. Secondly, a description of the signs and symptoms of shoe contact dermatitis will be presented in a narrative fashion. Finally, both treatment options and preventative measures to avoid shoe.

Efficient Hill Climber for Constrained Pseudo-Boolean Optimization Problems

Efficient hill climbers have been recently proposed for single- and multi-objective pseudo-Boolean optimization problems. For $k$-bounded pseudo-Boolean functions where each variable appears in at most a constant number of subfunctions, it has been theoretically proven that the neighborhood of a solution can be explored in constant time. These hill climbers, combined with a high-level exploration strategy, have shown to improve state of the art methods in experimental studies and open the door to the so-called Gray Box Optimization, where part, but not all, of the details of the objective functions are used to better explore the search space. One important limitation of all the previous proposals is that they can only be applied to unconstrained pseudo-Boolean optimization problems. In this work, we address the constrained case for multi-objective $k$-bounded pseudo-Boolean optimization problems. We find that adding constraints to the pseudo-Boolean problem has a linear computational cost in the hill climber.

Efecto del consumo concomitante de inhibidores de bomba protones y levotiroxina : revisión sistemática y metaanálisis

Estudios afirman que la acidez gástrica es importante en la absorción de levotiroxina (LT4) con resultados controversiales sobre la interacción entre inhibidores de bomba de protones (IBP) y LT4. El objetivo del estudio fue establecer el efecto del uso concomitante de LT4 e IBP en los niveles de TSH en pacientes adultos con hipotiroidismo primario. Se realizó una revisión sistemática mediante búsqueda en Medline, Embase, Lilacs, Bireme, Scielo, Cochrane y Universidad de York, Access Pharmacy, Google Scholar, Dialnet y Opengray. La búsqueda no se limito por lenguaje. Se evaluó el efecto en la diferencia de medias de TSH luego del consumo de LT4 y luego del consumo concomitante con IBP. Se hizo un metaanálisis, análisis de subgrupos y análisis de sensibilidad utilizando el programa Review Manager 5.3. Se eligieron 5 artículos para el análisis cualitativo y 3 para el metaanálisis. La calidad de los estudios fue buena y el riesgo de sesgos bajo. La diferencia de medias obtenida fue 0.21 mUI/L (IC95%: 0.02-0.40; p=0.03; I2:0%). En el análisis de subgrupos en pacientes mayores de 55 años la diferencia de medias fue 0.21 mUI/L (IC95%: 0.01-0.40; p=0.27; I2:19%). En el análisis de sensibilidad se excluyo el estudio con mayor muestra y la diferencia de medias fue 0.49 mUI/L (IC95%: -0.12 a 1.11; p=0.12; I2:0%). La diferencia de medias de TSH luego del consumo concomitante no se considera clínicamente significativa pues no representa riesgo para el paciente. Son necesarios estudios clínicos aleatorizados y evaluar el efecto en los niveles de T4 libre.

Estudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1

Se describe la variante homocigota c.320-2A>G de TGM1 en dos hermanas con ictiosis congénita autosómica recesiva. El clonaje de los transcritos generados por esta variante permitió identificar tres mecanismos moleculares de splicing alternativos.

Mineralogia e micromorfologia de solos esqueléticos do bioma Cerrado, no leste de Goiás.

A grande quantidade de material mineral com diâmetro maior que 2 mm de alguns solos do bioma Cerrado é uma característica de interesse em se tratando de formação, classificação, uso e manejo desses solos. Com o objetivo de contrastar atributos morfológicos, físicos, químicos, mineralógicos e micromorfológicos desses solos, com caráter esquelético, foram estudados perfis de Plintossolos Pétricos e Cambissolos Háplicos no leste de Goiás, comparando-os, também, com outros perfis semelhantes descritos na literatura. Cada perfil de solo (seis ao todo) correspondeu a uma trincheira, que permitiu a descrição morfológica e as amostragens, realizadas em duas profundidades, totalizando 12 amostras. Os corpos de petroplintita das frações mais grosseiras da terra fina contribuem para aumentar o Fe2O3 do ataque sulfúrico dos Plintossolos. As relações Feo/Fed são, de forma generalizada, muito baixas, refletindo a elevada estabilidade das formas cristalinas de Fe. Os Plintossolos e os Cambissolos estudados apresentam valores médios de Ki e Kr relativamente baixos quando comparados com outros solos das mesmas classes e com caráter esquelético do bioma Cerrado. A ausência de hematita na fração argila dos solos estudados reflete um processo de xantização do pedoambiente mais úmido das bordas da chapada, local de ocorrência dos Plintossolos, cujo material erodido contribui para formação dos Cambissolos. A hematita só aparece na fração areia dos Plintossolos, associada aos corpos de petroplintita. Magnetita/maghemita foram identificadas nas duas classes de solos. Nos Cambissolos, a detecção de mica por difração de raios X da fração areia e de minerais com cores de interferência fortes nas lâminas delgadas, além dos maiores valores das relações Ki e Kr, realçam a presença de material menos intemperizado, relativamente aos Plintossolos. A pequena quantidade de plasma, 10 % em relação à área das lâminas delgadas, confirma o caráter esquelético dos solos estudados. Os Plintossolos apresentam estrutura granular adensada. Os Cambissolos apresentam o espaço poroso menos conectado e dominado por alvéolos e canais, com microestrutura de grãos com películas.