bluuebunny/crossref_metadata_2025 huggingface dataset:
Jogos educativos
Authors: Gurgel Sabrina de Souza , Taveira Gedeane Pereira , Matias Érica Oliveira , Pinheiro Patrícia Neyva da Costa , Vieira Neiva Francenely Cunha , Lima Francisca Elisângela Teixeira
Published: September 2017

Informe de experiencia con el objetivo de describir el uso de los juegos en el monitoreo de la asignatura Educación en salud. Se utilizaron los siguientes juegos: el dominó, el juego de preguntas y respuestas, el bingo, el ta-te- ti, los dardos y el juego de la memoria, todos adaptados a los contenidos impartidos en la asignatura. Estos juegos fueron desarrollados conforme los temas tratados en el aula, estableciéndose que el dominó tenía que ver con conceptos de promoción de la salud, la prevención de enfermedades y educación en salud; el juego de preguntas y respuestas con los antecedentes históricos de la educación sanitaria; el bingo con cartas de promoción de la salud; el juego de la memoria con las características del aprendiz; el ta-te -ti con técnicas y estrategias de enseñanza y aprendizaje y los dardos con los enfoques de Paulo Freire. Se concluye que los juegos pueden ser utilizados en las actividades de monitoreo académico, adaptándolos a los contenidos de la asignatura.
Prevalência de sintomas de depressão em idosos assistidos pela estratégia de saúde da família
Authors: Sousa Karolliny Abrantes de , Freitas Fabiana Ferraz Queiroga , Castro Anubes Pereira de , Oliveira Cecília Danielle Bezerra , Almeida Anthonio Alisancharles Batista de , Sousa Kamilla Abrantes de
Published: September 2017

Objetivo: determinar la prevalencia de síntomas de depresión y verificar su asociación con factores sociodemográficos en adultos mayores inscritos en el programa Estrategia de Salud de la Familia del municipio de Cajazeiras, PB. Métodos: Investigación de campo tipo descriptiva con enfoque cuantitativo en una muestra de 153 adultos mayores. La recogida de datos se realizó a través de entrevistas domiciliarias con una encuesta sociodemográfica y la aplicación de la Escala de Depresión Geriátrica de Yesavage con 15 ítems (EDG-15). Para evaluar las asociaciones entre los síntomas de depresión y las variables sociodemográficas se utilizó el modelo estadístico Regresión de Poisson donde se calcularon las razones de prevalencia bruta y ajustada con intervalo de confianza del 95%. Resultados: Se identificó la prevalencia de síntomas de depresión en el 28,1% de los adultos mayores. Cuando se realizó un análisis multivariado de regresión, las variables significativas para mayor prevalencia de síntomas de depresión fueron personas del sexo femenino, divorciadas, sin religión y con enfermedad crónica. Conclusiones: para la atención de la salud de los adultos mayores se necesitan estrategias dirigidas a la identificación de los síntomas de depresión y de los factores asociados. Dichas estrategias también pueden ayudar a los profesionales de la salud, principalmente a nivel de la atención primaria, a comprender la realidad de estos individuos, a efectuar el diagnóstico temprano y a intervenir adecuadamente en la prevención o tratamiento de la depresión.
Autoimagem e autocuidado na vivência de pacientes estomizados
Authors: Freire Daniela de Aquino , Angelim Rebeca Coelho de Moura , Souza Naua Rodrigues de , Brandão Brígida Maria Gonçalves de Melo , Torres Kydja Milene Souza , Serrano Solange Queiroga
Published: September 2017

El objetivo de este estudio fue analizar la percepción de los pacientes ostomizados acerca de su autoimagen y autocuidado. Estudio exploratoriodescriptivo y cualitativo realizado en un hospital público de Recife, Pernambuco, con la participación de once personas con estoma digestivo de eliminación. Los datos recogidos en entrevistas semiestructuradas fueron sometidos a análisis de contenido. De los 11 pacientes, siete eran mujeres, entre 19 y 93 años. A partir de las entrevistas se establecieron tres categorías temáticas: conocimiento insuficiente para el cuidado personal; vivir con la colostomía y sus dificultades; hacer frente al tener que vivir con la bolsa de colostomía. Se observo que la autoimagen y el autocuidado de los pacientes colostomizados está vinculada a sentimientos de vergüenza, miedo, inseguridad, invasión y sufrimiento, que repercuten en la vida social, amorosa y laboral. Se constató, asimismo, que hay dificultades para aceptar y adaptarse a la colostomía, lo cual refleja el aislamiento social. Se recomienda que enfermería profundice sus conocimientos sobre los estomas, especialmente en relación con el autocuidado y la aceptación del paciente, con una mirada distinta, con el propósito de ayudar a las personas a encarar esta experiencia y que puedan trabajar en redes de apoyo, lo cual contribuye a una mejor adaptación y calidad de vida de las personas ostomizadas.
Cinema e identidade profissional
Authors: Oliveira Alexandre Barbosa de , Silva Marília Gomes e , Bernardes Margarida Maria Rocha , Queiroz Ana Beatriz Azevedo , Santos Regina Maria dos
Published: September 2017

Objetivo: analizar las percepciones de los discentes de graduación en Enfermería sobre el uso de la imagen de las enfermeras en la película Pearl Harbor y destacar su contribución pedagógica a la discusión de la identidad profesional de Enfermería. Métodos: estudio cualitativo, exploratorio, descriptivo realizado por medio del análisis de la película y de entrevistas semiestructuradas a los graduandos. Los datos recogidos fueron tratados según el análisis de contenido de Laurence Bardin y discutidos según los conceptos de la teoría del mundo social de Pierre Bourdieu. Resultados: el estudio indicó cuatro categorías temáticas que incluyen varios aspectos inherentes a la práctica y a la identidad de la profesión, que fueron mostrados simbólicamente en la película. Conclusión: debería ampliarse el debate académico sobre los efectos generados por los estigmas y estereotipos construidos en la contemporaneidad, por medio de la transmisión cinematográfica de la imagen de los profesionales de Enfermería. Además, el cine fue percibido como un instrumento cultural y pedagógico estratégico para distinguir y valorar la profesión en el campo social.
Percepções sobre o trabalho da equipe de enfermagem em serviço hospitalar de emergência de adultos
Authors: Amaral Eliana Maria Scarelli , Contim Divanice , Vieira Dayane da Silva , Chavaglia Suzel Regina Ribeiro , Ohl Rosali Isabel Barduchi
Published: September 2017

Objetivo: conocer la percepción del personal de enfermería del servicio de emergencias para adultos sobre el trabajo en equipo, la atención al paciente en estado crítico y sobre el ambiente físico. Métodos: estudio cualitativo exploratorio descriptivo. La recogida de datos se llevó a cabo por medio de un formulario semiestructurado. Estudio realizado con enfermeras de un servicio hospitalario de emergencias para adultos. Resultados: se entrevistaron a 28 profesionales: 24 técnicos de enfermería y cuatro enfermeros. Se establecieron tres categorías: interacción del equipo de enfermeros; dinámica de trabajo del equipo de enfermería y aspectos físicos y psicológicos del equipo. Conclusión: los profesionales consideraron que el equipo era unido y colaborativo, a pesar de los conflictos y de la influencia del entorno físico en el trabajo en equipo, así como la identificación de factores de estrés en enfermería que influyen en el individuo.
Vivência dos familiares de prematuros internados em unidade de terapia intensiva neonatal
Authors: Lima Vanessa Ferreira de , Mazza Verônica de Azevedo , Mór Laura Müller , Pinto Magda Nanuck de Godoy Ribas
Published: September 2017

El presente estudio tuvo como objetivo describir la experiencia de familiares de bebés prematuros internados en la unidad de cuidados intensivos neonatales. Investigación exploratoria cualitativa realizada en la unidad de cuidados intensivos neonatales de un hospital escuela del estado de Paraná, de abril a junio de 2016, con 16 familiares - 14 madres y dos padres - de bebés prematuros internados. Se realizó el análisis temático y se utilizó el software Interface de R pour les Analyses Multidimensionnelles de Textes et Questionnaires® para la organización de datos. El estudio fue aprobado por el Comité de Ética en Investigación del Sector de Ciencias de la Salud de la Universidad Federal de Paraná bajo el dictamen fundamentado 1.170.956, CAEE 47561215.8.00.00.0102 y por el Comité de Ética en Investigación de la institución coparticipante, dictamen 1.359.92, CAEE 47561215.8.3001.0096. El estudio siguió las etapas recomendadas por los criterios consolidados para la investigación cualitativa. Los datos expresaron que las familias viven de forma velada el riesgo inminente de muerte sin necesariamente poder expresar ese miedo. Buscan fuerzas en situaciones peores que la de su hijo, en la dimensión espiritual o incluso en algo que desconocen y no saben explicar su origen; esta vivencia va más allá de lo cotidiano y de la dimensión biológica del cuidado. Se llegó a la conclusión que la filosofía de las instituciones y de los profesionales debe cambiar, dentro de la perspectiva de cuidar a las familias, para que el cuidado supere la dimensión biológica, con espacios de diálogo, con miras a que estas familias dejen de ser apenas espectadoras y formen parte del propio cuidado.
Identificação e recuperação da função renal em pacientes não dialíticos no cenário de terapia intensiva
Authors: Carneiro Tatiane Aguiar , Hermann Paula Regina de Souza , Souza Josiane Maria Oliveira de , Magro Marcia Cristina da Silva
Published: September 2017

Objetivos: Determinar el grado de compromiso de la función renal de pacientes con LRA no dialítica e identificar la frecuencia de recuperación de la función renal en la unidad de terapia intensiva (UTI). Método: Estudio observacional, prospectivo y cuantitativo con 90 pacientes después de la admisión a la UTI, durante quince días. Los datos fueron recogidos de los expedientes médicos de los pacientes. Se consideraron significativos los resultados con p <0,05. Resultados: el uso de drogas vasoactivas y de ventilación mecánica fue asociado con la causa de la lesión renal aguda (p = 0,009; p = 0,001). El 95,6% de los pacientes evolucionó a disfunción renal, según la clasificación de Acute Kidney Injury Network (AKIN). En general, el 50% de los pacientes evolucionó a recuperación de la función renal. Conclusión: La mayoría de los pacientes fue identificada con lesión o fallo renal, estadios de mayor gravedad, según la clasificación AKIN. La recuperación de la función renal fue identificada en el 50% de los pacientes.
Avaliação de aplicativo digital para o ensino de sinais vitais
Authors: Pereira Francisco Gilberto Fernandes , Frota Natasha Marques , Silva Débora Valente da , Sousa Luciana Maria Oliveira de , Almeida Jamily Cunha de , Cysne Francisco Mauricio Sales
Published: September 2017

El objetivo de este estudio fue describir cómo el público-objeto evalúa la aplicación móvil construida para la enseñanza de los signos vitales. Para la construcción y evaluación de tecnologías se siguieron las etapas metodológicas propuestas por Galvis-Panqueva. En el presente estudio se describe la etapa de evaluación de los usuarios. Participaron 29 estudiantes del curso de grado en enfermería, que se manifestaron sobre las siguientes características: estilo, motivación y contenido, por medio de una herramienta de evaluación de la aplicación. Se realza que la mayoría afirmó que la aplicación era excelente para las tres características: estilo (21-25; 72,6%-86,2%); motivación (20-25; 69,0%-86,2%); y contenido (21-25; 72,4%-86,2%). Con respecto a la adhesión a la aplicación, se considera que los resultados de la evaluación sugieren que los estudiantes la utilizarán habitualmente, según la necesidad, teniendo en cuenta que los altos valores de motivación, estilo y contenido indican que los alumnos estarán involucrados emocionalmente al pensar que dicho recurso les podrá ser útil en la toma de decisiones. Por lo tanto, se llega a la conclusión que la aplicación fue bien evaluada por el grupo de estudiantes de enfermería. Se espera que este recurso sea una alternativa viable para el fortalecimiento del proceso de aprendizaje.
The Impact of Information Technology on Library Anxiety: The Role of Computer Attitudes
Authors: Jiao Qun G. , Onwuegbuzie Anthony J.
Published: September 2017

Over the past two decades, computer-based technologies have become dominant forces to shape and reshape the products and services the academic library has to offer. The applicationo of library technologies has had a profound impact on the way library resources are being used. Although many students continue to experience high levels of library anxiety, it is likely that the new technologies in the library have led to them experiencing other forms of negative affective states that may be, in part, a function of their attitude towards computers. This study investigates whether students' computer attitudes predict levels of library anxiety.
Using a Native XML Database for Encoded Archival Description Search and Retrieval
Authors: Cornish Alan
Published: September 2017

This article is an attempt to develop Geographic Information Systems (GIS) technology into an analytical tool for examining the relationships between the height of the bookshelves and the behavior of library readers in utilizing books within a library. The tool would contain a database to store book-use information and some GIS maps to represent bookshelves. Upon analyzing the data stored in the database, different frequencies of book use across bookshelf layers are displayed on the maps. The tool would provide a wonderful means of visualization through which analysts can quickly realize the spatial distribution of books used in a library. This article reveals that readers tend to pull books out of the bookshelf layers that are easily reachable by human eyes and hands, and thus opens some issues for librarians to reconsider the management of library collections.
Vi har intet at hovmode os over. Den anti-antropocentriske Andersen
Authors: Thomsen Torsten Bøgh
Published: September 2017

Torsten Bøgh Thomsen: “We Have Nothing to be Arrogant About: Anti-anthropocentrism in Hans Christian Andersen’s Fairytales of Things”The article presents readings of some of Hans Christian Andersen’s fairytales of things in relation to new materialist theory. The argument is that Andersen writes with an artistic sensitivity toward the material world that puts forth discussions about agency, autonomy, conditionality, mastery and instrumentalism in a poetological setting. Furthermore, the argument is that this material aesthetic comes about through a deliberate use of some of the more radical elements of Romantic philosophy that challenges the anthropocentric ideals of Universal and National Romanticism and softens the gap between Romanticism and Modernity in a way that seems congruent with late modern environmental thinking.
Unddragelsens kunst. Hermetiske objekter og deiksis uden kontekst i Gertrude Steins “Tender Buttons”
Authors: Herrie Maja Bak
Published: September 2017

Maja Bak Herrie: “The Art of Withdrawal – Hermetic Objects and Deixis without Context in Gertrude Stein’s Tender Buttons”The last decade has seen an increased attention toward things and objects in the aesthetic disciplines. This article explores the analytical potentials of the quadruple object model from Graham Harman’s object-oriented philosophy in a literary context, namely Gertrude Stein’s 1914 book Tender Buttons: objects, food, rooms. With the assistance of the quadruple object model and the linguistic term deixis, paradoxically concrete but non-contextualised, literary objects in the form of everyday items and foods are conceptualised as being in a process of withdrawal and emergence.
Begæret efter stoflighed. Materialitet, begrænsninger og begær i “Madame Bovary”
Authors: Gammelgaard Signe Leth
Published: September 2017

Signe Leth Gammelgaard: “Desiring Matter: Materiality, Constraints and Desire in Madame Bovary”This article analyses similarities between Flaubert’s stylistics in Madame Bovary and the theories of new materialism, in particular the work of Karen Barad. Drawing upon earlier readings of the novel by Schor, Danius, Starobinski and Rancière this reading centers on the motif of boundaries and their dissolvement and it argues that the novel highlights a feeling of disappointment or frustration with a world that does not always move according to human will. The article goes on to examine how Emma’s money plot conjoins with the theory of active materiality, and to speculate on the relation between capitalist ideology and new materialist theory. Finally, two critiques of new materialism are discussed, stressing the importance of the notion of boundaries.
Cooperative interactions enable singular olfactory receptor expression in mouse olfactory neurons
Authors: Monahan Kevin , Schieren Ira , Cheung Jonah , Mumbey-Wafula Alice , Monuki Edwin S , Lomvardas Stavros
Published: September 2017

The monogenic and monoallelic expression of only one out of >1000 mouse olfactory receptor (ORs) genes requires the formation of large heterochromatic chromatin domains that sequester the OR gene clusters. Within these domains, intergenic transcriptional enhancers evade heterochromatic silencing and converge into interchromosomal hubs that assemble over the transcriptionally active OR. The significance of this nuclear organization in OR choice remains elusive. Here, we show that transcription factors Lhx2 and Ebf specify OR enhancers by binding in a functionally cooperative fashion to stereotypically spaced motifs that defy heterochromatin. Specific displacement of Lhx2 and Ebf from OR enhancers resulted in pervasive, long-range, and trans downregulation of OR transcription, whereas pre-assembly of a multi-enhancer hub increased the frequency of OR choice in cis. Our data provide genetic support for the requirement and sufficiency of interchromosomal interactions in singular OR choice and generate general regulatory principles for stochastic, mutually exclusive gene expression programs.
Candidate genes for shell colour polymorphism inCepaea nemoralis
Authors: Kerkvliet Jesse , de Boer Tjalf , Schilthuizen Menno , Kraaijeveld Ken
Published: September 2017

The characteristic ground colour and banding patterns on shells of the land snailCepaea nemoralisform a classic study system for genetics and adaptation as it varies widely between individuals. We use RNAseq analysis to identify candidate genes underlying this polymorphism. We sequenced cDNA from the foot and the mantle (the shell-producing tissue) of four individuals of two phenotypes and produced ade novotranscriptome of 147,397 contigs. Differential expression analysis identified a set of 1,961 transcripts that were upregulated in mantle tissue. Sequence variant analysis resulted in a set of 2,592 transcripts with single nucleotide polymorphisms (SNPs) that differed consistently between the phenotypes. Inspection of the overlap between the differential expression analysis and SNP analysis yielded a set of 197 candidate transcripts, of which 38 were annotated. Four of these transcripts are thought to be involved in production of the shell’s nacreous layer. Comparison with morph-associated Restriction-site Associated DNA (RAD)-tags from a published study yielded eight transcripts that were annotated as metallothionein, a protein that is thought to inhibit the production of melanin in melanocytes. These results thus provide an excellent starting point for the elucidation of the genetic regulation of theCepaea nemoralisshell colour polymorphism.
Functional Ingredients: Market Research
Authors: Wensing Joana , Bröring Stefanie
Published: September 2017

Functional ingredients are bioactive compounds that are present in plants or foodstuff and deliver physiological health benefits beyond their nutritional value. They serve as health‐promoting ingredients for several product categories such as herbal medicines, dietary supplements, functional foods, and feed and plant protection products. As functional ingredients face some challenges on their way from the laboratory to commercialization, market research is crucial in order to justify the investment of financial and human capital for new components. To this end, this article proposes a step‐by‐step guide for conducting market research of functional ingredients: (1) defining the target market of the ingredient, (2) analyzing the value chain, (3) evaluating the market potential based on market needs, and (4) analyzing the competitive forces of the industry. These steps will finally be illustrated by a case study discussing the target markets for the functional ingredient rutin.
Modulation of Wnt signaling is essential for the differentiation of ciliated epithelial cells in human airways
Authors: Schmid Andreas , Sailland Juliette , Novak Lisa , Baumlin Nathalie , Fregien Nevis , Salathe Matthias
Published: September 2017

Wnt signaling is essential for the differentiation of airway epithelial cells during development. Here, we examined the role of Wnt signaling during redifferentiation of ciliated airway epithelial cells in vitro at the air liquid interface as a model of airway epithelial repair. Phases of proliferation and differentiation were defined. Markers of squamous metaplasia and epithelial ciliation were followed while enhancing β‐catenin signaling by blocking glycogen synthase kinase 3β with SB216763 and shRNA as well as inhibiting canonical WNT signaling with apical application of Dickkopf 1 (Dkk1). Our findings indicate that enhanced β‐catenin signaling decreases the number of ciliated cells and causes squamous changes in the epithelium, whereas treatment with DDk1 leads to an increased number of ciliated cells.
Flow Dependence of Suspended Sediment Gradations
Authors: Gibson S. A. , Cai C.
Published: September 2017

Suspended sediment loads can coarsen or fine as a function of flow. The flow‐load gradation relationships can also vary nonmonotonically. This complex relationship between flow and load gradation complicates sediment model boundary condition selection and sediment rating curve analysis. This study analyzed flow‐gradation data from 78 gages in the continental United States, exploring trends and tendencies in the flow‐gradation relationships. Results were then compared to the flow‐gradation trends generated by sediment capacity equations and a meta‐analysis of sediment model data. Several systems, with abundant sediment supply fined with flow. However, most gage data and calibrated model inputs coarsened with flow. When nonmonotonic models were considered, one‐third to one‐half of the gages fit a second‐order curve, coarsening over low‐to‐moderate flows (up to an average annual exceedance probability of ∼30%) and fining over higher flows. The low‐flow‐coarsening trend was generally stronger than high‐flow‐fining trends. Many of these second‐order trends demonstrated behavior more like “asymptotic coarsening.” They coarsened until they reached a maximum physical grain size limit and gradation fined slightly or remained constant beyond the threshold flow. The dominance of flow‐coarsening suggests most of the rivers surveyed (which included a bias toward large, regulated rivers) are supply limited. Supply limited (bed regulated) rivers tend to coarsen with flow, while capacity limited, high supply systems tend to fine with flow. Sediment capacity equations computed a variety of flow‐gradation trends. Using transport functions to compute load‐gradation model boundary conditions will often diverge from (or even invert) observed trends, especially in supply limited systems.
Directivity Functions of Neutron Monitors
Authors: Karapetyan G. G.
Published: September 2017

We derive directivity function (DF) of neutron monitor (NM). It represents the distribution of count rate by asymptotic directions of primary cosmic ray protons, providing the detailed and accurate description of directional sensitivity of a NM. We present the DFs of several NM stations, located at high and low geographical latitudes, clarifying the features of their acceptance cones. The knowledge of DFs will help in research of galactic and solar cosmic rays based on neutron monitors. Particularly, using DFs, we estimated the times of maximum for diurnal variations of several stations and showed that they are consistent with the observed data.
Equatorial Ionospheric Response to Different Estimated Disturbed Electric Fields as Investigated Using Sheffield University Plasmasphere Ionosphere Model at INPE
Authors: Bravo M. A. , Batista I. S. , Souza J. R. , Foppiano A. J.
Published: September 2017

Good ionospheric modeling is important to understand anomalous effects, mainly during geomagnetic storm events. Ionospheric electric fields, thermospheric winds, and neutral composition are affected at different degrees, depending on the intensity of the magnetic disturbance which, in turns, affects the electron density distribution at all latitudes. The most important disturbed parameter for the equatorial ionosphere is the electric field, which is responsible for the equatorial ionization anomaly. Here various electric field measurements and models are analyzed: (1) measured by the Jicamarca incoherent scatter radar (ISR), (2) from Jicamarca Unattended Long‐Term studies of the Ionosphere and Atmosphere (JULIA) radar, (3) deduced from magnetometers, (4) calculated from the time variations of the F layer height (dh′F/dt), and (5) deduced from interplanetary electric field determinations. The response of ionospheric parameters foF2 and hmF2 to the electric fields simulated using the Sheffield University Plasmasphere Ionosphere Model version available at Instituto Nacional de Pesquisas Espaciais is compared with observations for two locations, during the geomagnetic storm events of 17–18 April 2002 and 7–10 November 2004. Results are found to be consistent with the observations in such a way that a hierarchy among the different types of drifts used can be established. When no ISR measurements are available, the drifts deduced from magnetometers or measured by the JULIA are best when including the contribution derived from dh′F/dt for the 18–24 LT time interval. However, when none of these drifts are available, drifts inferred from the interplanetary electric field seem to be a good alternative for some purposes.
Automated River Reach Definition Strategies: Applications for the Surface Water and Ocean Topography Mission
Authors: Frasson Renato Prata de Moraes , Wei Rui , Durand Michael , Minear J. Toby , Domeneghetti Alessio , Schumann Guy , Williams Brent A. , Rodriguez Ernesto , Picamilh Christophe , Lion Christine , Pavelsky Tamlin , Garambois Pierre‐André
Published: September 2017

The upcoming Surface Water and Ocean Topography (SWOT) mission will measure water surface heights and widths for rivers wider than 100 m. At its native resolution, SWOT height errors are expected to be on the order of meters, which prevent the calculation of water surface slopes and the use of slope‐dependent discharge equations. To mitigate height and width errors, the high‐resolution measurements will be grouped into reaches (∼5 to 15 km), where slope and discharge are estimated. We describe three automated river segmentation strategies for defining optimum reaches for discharge estimation: (1) arbitrary lengths, (2) identification of hydraulic controls, and (3) sinuosity. We test our methodologies on 9 and 14 simulated SWOT overpasses over the Sacramento and the Po Rivers, respectively, which we compare against hydraulic models of each river. Our results show that generally, height, width, and slope errors decrease with increasing reach length. However, the hydraulic controls and the sinuosity methods led to better slopes and often height errors that were either smaller or comparable to those of arbitrary reaches of compatible sizes. Estimated discharge errors caused by the propagation of height, width, and slope errors through the discharge equation were often smaller for sinuosity (on average 8.5% for the Sacramento and 6.9% for the Po) and hydraulic control (Sacramento: 7.3% and Po: 5.9%) reaches than for arbitrary reaches of comparable lengths (Sacramento: 8.6% and Po: 7.8%). This analysis suggests that reach definition methods that preserve the hydraulic properties of the river network may lead to better discharge estimates.
Flow and Residence Times of Dynamic River Bank Storage and Sinuosity‐Driven Hyporheic Exchange
Authors: Gomez‐Velez J. D. , Wilson J. L. , Cardenas M. B. , Harvey J. W.
Published: September 2017

Hydrologic exchange fluxes (HEFs) vary significantly along river corridors due to spatiotemporal changes in discharge and geomorphology. This variability results in the emergence of biogeochemical hot‐spots and hot‐moments that ultimately control solute and energy transport and ecosystem services from the local to the watershed scales. In this work, we use a reduced‐order model to gain mechanistic understanding of river bank storage and sinuosity‐driven hyporheic exchange induced by transient river discharge. This is the first time that a systematic analysis of both processes is presented and serves as an initial step to propose parsimonious, physics‐based models for better predictions of water quality at the large watershed scale. The effects of channel sinuosity, alluvial valley slope, hydraulic conductivity, and river stage forcing intensity and duration are encapsulated in dimensionless variables that can be easily estimated or constrained. We find that the importance of perturbations in the hyporheic zone's flux, residence times, and geometry is mainly explained by two‐dimensionless variables representing the ratio of the hydraulic time constant of the aquifer and the duration of the event (Γd) and the importance of the ambient groundwater flow (). Our model additionally shows that even systems with small sensitivity, resulting in small changes in the hyporheic zone extent, are characterized by highly variable exchange fluxes and residence times. These findings highlight the importance of including dynamic changes in hyporheic zones for typical HEF models such as the transient storage model.
Ribosomal Proteins: Their Role in the Assembly, Structure and Function of the Ribosome
Authors: Razi Aida , Ortega Joaquin
Published: September 2017

The ribosome is the macromolecular assembly dedicated to translating the genetic information into proteins. Ribosomes are made of several RNA molecules and between 50 and 80 proteins. The role played by these proteins has been the focus of investigations for over five decades. Initially, proteins were thought to be the only functional component of the ribosome, whereas the rRNA was considered merely a scaffold. This view has evolved and now is clear that both the RNA and protein components of the ribosome are functionally important. The r‐proteins play a role in the assembly process of the ribosome and are also essential for the structure and function of the ribosome. Their importance in the physiology of the ribosome is revealed by the fact that mutations in ribosomal proteins lead to ribosomopathies, a group of diseases that include developmental, haematological, metabolic and cardiovascular disorders, as well as cancers.

Key Concepts

The ribosome is a large macromolecular assembly dedicated to synthesising all proteins in all cells.

The ribosome in all domains of life is made of a small and a large subunit.

The small subunit decodes the genetic code and translate it into the sequence of amino acids that form a protein.

The large subunit is responsible for the peptide bond formation that links the amino acids in a functional protein.

The three core mechanisms of protein synthesis, including decoding and catalysis of peptide bond formation are performed by ribosomal ribonucleic acid (RNA).

The ribosome also contains 55–80 proteins.

During ribosomal assembly, the ribosomal proteins drive folding of ribosomal ribonucleic acid (rRNA).

In the mature ribosome, ribosomal proteins participate in the translation process, binding of translation factors and tuning ribosomal properties including translation fidelity.

Ribosomal proteins are also a useful tool to study how cellular proteins acquired their ability to fold over geological timescales.
Dispersal: Biogeography
Authors: Wilkinson David M
Published: September 2017

Dispersal is one of the fundamental processes in biogeography, crucial to understanding the distribution of organisms. The most basic distinction between different types of dispersal is between organisms that disperse using their own energy and those that use energy from the environment. Dispersal can lead to two main patterns of range expansion. Either a population can slowly expand from the margins of its geographical range or a small number of individuals can disperse to a new location some distance from the current edge of the species range, or a combination of both of these processes can occur. Dispersal is also of importance in applied ecology, for example, humans have assisted the dispersal of many organisms to new parts of the world – sometimes leading to problems when they become pests in their new range. Understanding dispersal is also important in attempting to predict how organisms will respond to climate change.

Key Concepts

There are three fundamental processes in biogeography: evolution, extinction and dispersal.

The most basic distinction between types of dispersal is between organisms that disperse using their own power (active dispersal) and those that use energy from the environment (passive dispersal).

Much of biodiversity is microscopic; organisms of this size can often be easily dispersed by air or water currents – the extent to which geographical barriers are important for such organisms is currently an active area of research.

Many larger animals are capable of dispersal under their own power, especially ones that can fly such as birds and bats.

Individual organisms can sometimes appear at a location well outside their normal range, and such individuals are referred to as vagrants.

There are two main patterns of range expansion ‘diffusion’ and ‘jump dispersal’.

Vicariance biogeography has been an alternative to dispersal biogeography, which downplays the importance of dispersal, replacing it with the idea that a taxon's range can be divided by the formation of physical barriers.

A key applied question is whether organisms will be able to disperse at a speed that will allow them to track future climate change.

Human influence has had a big role in reducing the effects of dispersal barriers by moving organisms around the world.

When a species is dispersed to another part of the world by human actions, its main parasites and predators can be left behind; occasionally, this can cause a dramatic increase in its population at the new site, and the introduced organism can become a pest species.
Mutation Databases
Authors: Baux David , Sasorith Souphatta , Bergougnoux Anne , Claustres Mireille
Published: September 2017

Mutation databases were developed in the 1990s and since then being a hot topic in the field of human molecular genetics. They have been constantly evolving, from a single gene to whole genome, from a few patients to whole populations, bringing the community to face multiple challenges, from the ethical and technical aspects of data sharing to the new methods to be developed to bring precision medicine to the patient. The new sequencing technologies, generating worldwide an uninterrupted flow of variants from patients and from the general population, challenge the information technology capacities of genetic centres. Huge databases are now present in multiple copies inside the institutions in high‐performance computing environments and are used to filter, interpret and prioritise variants in disease studies in order to facilitate the work of thousands of geneticists overwhelmed with the big data.

Key Concepts

Mutation databases appeared in the 1990s and were designed to store, organise and share genetic data.

The main categories were central databases, which gathered all variants, and locus‐specific databases, which were focused on one gene/disease with an expert curator.

The advent of high‐throughput sequencing changed the paradigm: central databases are becoming more and more experts and locus‐specific databases more and more genomic.

High‐throughput sequencing also brought a new category of databases for fast variant interpretation.

The main current issue is data sharing: success is linked to data quality, availability and usability.
Genetic Disease: Prevalence
Authors: Zlotogora Joël
Published: September 2017

Although monogenic diseases are considered to be rare, some are relatively frequent either in large parts of the world or in more delineated regions. Often, the relative high frequency is limited to some sub‐populations or even small communities. Various processes influence the prevalence of genetic diseases in the population, in particular the mutation rate, selection and founder effect with genetic drift. In some genes, the rates of new mutations are high, and the disorder is frequent, often appearing as sporadic. A selective advantage to carrier of a genetic trait will lead to an increased frequency of the disease as it has been observed for sickle cell disease in which the carrier status protects from malaria. A relative isolation of a population that expands rapidly may lead to an increased frequency of genetic traits due to a founder effect.

Key Concepts

In general individual genetic diseases are rare, however, the total number of individuals affected with genetic diseases is large.

High mutation rate of a specific gene may be responsible for the high prevalence of the corresponding disease.

A genetic disease may be prevalent as a result of selection since the mutation increase the fitness of the carrier.

Genetic isolation of a population may lead to the high frequency of genetic diseases as a result of a founder effect with genetic drift.

The genetic isolation of a population may be caused by geographic conditions (in the past), religion or consanguinity.
Sickle Cell Disease as a Multi‐Factorial Condition
Authors: Steinberg Martin H , Verhovsek Madeleine M
Published: September 2017

The phenotype of sickle cell anaemia is heterogeneous. Although all patients have the identical sickle haemoglobin mutation, the type, severity and frequency of complications are variable. The products of epistatic modifying genes, along with environmental influences, interact to determine the disease phenotype. Haemoglobin F concentration and its distribution among erythrocytes are likely the most important genetic modulator of disease severity. Polymorphic variation in several genetic loci, including
BCL11A
in chromosome 2p, the
HBS1L‐MYB
locus in 6q23 and the C‐T polymorphism 5′ to
HBG2
on chromosome 11p, are associated with differences in haemoglobin F gene expression.
ZBTB7A
in chromosome 19p, along with
BCL11A,
is a major suppressor of haemoglobin F expression.
α
‐Thalassaemia is the other major modulator of sickle cell disease. In addition to haemoglobin F and
α
‐thalassaemia, some evidence exists that genes influencing endothelial activation, inflammation, red blood cell hydration and haemostasis might contribute to phenotypic diversity.

Key Concepts

Sickle cell anaemia is a single‐gene disorder with heterogeneous clinical features.

The phenotype of sickle cell anaemia is affected by epistatic modifier genes.

Haemoglobin F is the best‐known genetic modifier of sickle cell anaemia.

Polymorphisms in three established quantitative trait loci modulate haemoglobin F.

High haemoglobin F levels are associated with reduced mortality and the rate of viscosity–vaso‐occlusive complications.

The locus of the haemoglobin F effect is the sickle erythrocyte.

The distribution of concentrations of haemoglobin F among sickle erythrocytes is likely to be the critical determinant of its clinical effects.

Co‐inheritance of α‐thalassaemia is associated with reduced rates of haemolysis and vasculopathic complications, but an increased incidence of viscosity–vaso‐occlusive manifestations.

Candidate gene and genome‐wide association studies have identified genes that potentially affect sickle cell disease phenotype by modifying disease pathogenesis.

It is likely that many genes, each playing a small role, contribute to the phenotypic heterogeneity of disease.
Mismatch Repair Genes
Authors: Kansikas Minttu , Nyström Minna , Peltomäki Päivi
Published: September 2017

The mismatch repair (MMR) system is necessary for the maintenance of genomic stability. The primary role of MMR is to correct errors such as base/base mismatches and small insertions/deletions that arise during DNA (deoxyribonucleic acid) synthesis. Loss of functional MMR results in increased rates of point mutations and microsatellite instability. Post‐replicative MMR is strand‐specific and serves mutation avoidance. Outside replication, discrimination between old and newly synthesised DNA strands is no longer necessary, and the MMR system can be mutagenic. Such non‐canonical actions of MMR are required, for example, for the generation of immunoglobulin diversity. The anti‐mutator and mutator activities of MMR play important roles in human diseases. Notably, germline mutations in MMR genes cause predisposition to Lynch syndrome, whereas epigenetic inactivation of the MMR gene
MLH1
underlies 15% of sporadic colorectal and other cancers.

Key Concepts

Post‐replicative mismatch repair can counteract or promote mutations.

DNA mismatch repair genes are conserved in evolution.

DNA mismatch repair genes comply with Knudson's two‐hit paradigm for tumour suppressor genes.

Deficient DNA mismatch repair is responsible for microsatellite instability in tumours.

Inherited defects in DNA mismatch repair underlie Lynch syndrome, a dominant predisposition to colorectal, endometrial and other cancers.
Auxin
Authors: Kathare Praveen K , Cioffi Timothy J , Dharmasiri Nihal , Dharmasiri Sunethra
Published: September 2017

Auxin is an essential plant hormone that regulates growth and development of plants from embryo development to senescence. Auxin exerts its regulatory effects by controlling cell division, cell expansion and cell differentiation. According to the currently accepted model, auxin is mainly synthesised from tryptophan in the shoot apex and transported to other tissues, where auxin is perceived in the nucleus coordinately by two groups of co‐receptors, and controls growth and development by regulating the expression of auxin‐responsive genes. Auxin acts in association with many other growth regulatory factors and external cues to properly coordinate plant growth and development with its environment. While molecular mechanisms involved in auxin biosynthesis, transport and signalling have been unearthed to a great extent, a complete understanding of these intricate mechanisms is yet to be acquired.

Key Concepts

Auxins are small organic molecules with an essential aromatic ring structure and a carboxyl side group of variable length.

Auxin regulates almost every aspect of plant growth and development by affecting cell division, expansion and differentiation at all stages of life.

The predominant natural auxin in plants is indole‐3‐acetic acid, and many synthetic chemicals with auxinic activity are being widely used as plant growth regulators and selective herbicides.

Plants maintain the auxin homeostasis by coordinating biosynthesis, transport, conjugation/deconjugation and degradation of auxins.

Auxin is coordinately perceived by two groups of co‐receptor proteins in the nucleus, resulting in degradation of Aux/IAA repressors, thereby modulating the expression of auxin‐responsive genes.

There is evidence for additional auxin perception and signalling mechanisms, but further studies are necessary for a complete understanding of these pathways.
Neurofibromatosis Type 2 Clinics and Genetics
Authors: Kluwe Lan , Farschtschi Said , Mautner Victor‐F
Published: September 2017

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by multiple benign tumours of the nervous system. More than 90% of the patients develop bilateral vestibular schwannomas, which are the hallmark of NF2 and lead to progressive hearing loss in adult patients. Spinal tumours are as frequent as bilateral vestibular schwannomas, whereas approximately one‐third of them cause neurological symptoms. Cranial nonvestibular schwannomas, meningiomas and ependymomas are also frequent in NF2, as well as ophthalmological lesions and peripheral polyneuropathy. With a birth incidence of around 1 in 25 000, the genetic cause for NF2 is the heterozygous inactivation of the
NF2
tumour suppressor gene on 22q. More than half (50–80%) of NF2 patients are founders who bear
de novo
mutations among whom mosaicism is frequent (at least 25–30%). NF2 is a complex syndrome and demands interdisciplinary care, experienced specialists, social and psychological support and rehabilitation measures.

Key Concepts

NF2 is a tumour suppressor gene syndrome and is characterised by multiple benign cerebral and spinal tumours.

Bilateral vestibular schwannomas are the hallmark of NF2.

The genetic cause for NF2 is the heterozygotic inactivating mutation of the
NF2
gene on 22q.

Mosaicism is frequent among
de novo
NF2 patients (>25–30%).

NF2 is a complex syndrome and demands interdisciplinary care, experienced specialists, coordinated social and psychological supports and rehabilitation measures.
Contemporary Forms of Eugenics
Authors: Wilson Robert A
Published: September 2017

Eugenics is commonly thought of as having endured as science and social movement only until 1945. With the advance of both reproductive and enhancement technologies, however, concern has arisen that eugenics has resurfaced in new forms. In particular, the eugenic potential of the Human Genome Project led to talk of the rise of ‘newgenics’ and of a backdoor to eugenics. This article focuses on such concerns deriving from the practice of prenatal screening and technologies that increase our ability to generate information about the kinds of children we are likely to have. Given individual preferences and social norms concerning what traits are intergenerationally desirable, how should we act and what practices and policies should we endorse or scrutinise? This article will concentrate on key components of eugenic thinking present today and emphasise continuities between the eugenic past and newgenic present in the subhumanisation of people with cognitive or intellectual disabilities.

Key Concepts

Eugenics persists in contemporary work on reproductive technologies and disability.

Eugenics aims to improve human populations over generational time.

By focusing on the idea of eugenic logic, we can explore contemporary forms of eugenics.

The eugenic subhumanization of people with disabilities persists in current bioethics.

The endorsement by philosophers of liberal eugenics deserves more critical attention.