Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

Meeting participants: Rosário dos Santos, Porto, Portugal

Fishing effort and the impact of fishing gears and fishing methods on fishes and fisheries of Kyoga basin lakes

Lake Kyoga at the time of Worthington Survey (Worthington, 1929) was fished by only natives around it. The fishing gears consisted of locally made basket traps, hooks and seine nets made out of papyrus. Fishing was mainly during the dry season as in wet season, the fishers would revert to crop growing. During 1937 to 1950s Oreochromis variabilis, oreochromis esculentus (Ngege) and Protopterus aethiopicus (Mamba) were the most important commercial fish species and contributed over 95% to the total landings until early 1950s when their proportions started to change as a result of changes in fishing techniques. The tilapiines' were then being caught using mainly basket traps and P.aethiopicus was caught in hooks prior to the mid 1950s.

The Role of College Students' Perceptions of Effort Source on Self-Evaluations of Academic Ability

In the present studies I investigated whether college students’ perceptions of effort source influenced their perceptions of the relation between levels of their own effort and ability in mathematics. In Study 1 (N = 210), I found using hypothetical vignettes that perceptions of task-elicited effort (i.e., effort that arises due to the subjective difficulty or ease of the task) led to perceptions of an inverse relation between one’s effort and ability, and perceptions of self-initiated effort (i.e., effort that arises due to one’s own motivation or lack of motivation) led to perceptions of a positive relation between one’s effort and ability, consistent with my hypotheses and prior research. In Study 2 (N = 160), participants completed an academic task and I used open-ended questions to manipulate their perceptions of effort source. I found that participants in the task-elicited condition endorsed no overall relation between effort and ability, and participants in the self-initiated condition endorsed an overall inverse relation, which is inconsistent with my hypotheses and prior research. Possible explanations for the findings, as well as broader theoretical and educational implications are discussed.

The principle of least effort within the hierarchy of linguistic preferences: external evidence from English

The thesis is an investigation of the principle of least effort (Zipf 1949 [1972]). The principle is simple (all effort should be least) and universal (it governs the totality of human behavior). Since the principle is also functional, the thesis adopts a functional theory of language as its theoretical framework, i.e. Natural Linguistics. The explanatory system of Natural Linguistics posits that higher principles govern preferences, which, in turn, manifest themselves as concrete, specific processes in a given language. Therefore, the thesis’ aim is to investigate the principle of least effort on the basis of external evidence from English. The investigation falls into the three following strands: the investigation of the principle itself, the investigation of its application in articulatory effort and the investigation of its application in phonological processes. The structure of the thesis reflects the division of its broad aims. The first part of the thesis presents its theoretical background (Chapter One and Chapter Two), the second part of the thesis deals with application of least effort in articulatory effort (Chapter Three and Chapter Four), whereas the third part discusses the principle of least effort in phonological processes (Chapter Five and Chapter Six). Chapter One serves as an introduction, examining various aspects of the principle of least effort such as its history, literature, operation and motivation. It overviews various names which denote least effort, explains the origins of the principle and reviews the literature devoted to the principle of least effort in a chronological order. The chapter also discusses the nature and operation of the principle, providing numerous examples of the principle at work. It emphasizes the universal character of the principle from the linguistic field (low-level phonetic processes and language universals) and the non-linguistic ones (physics, biology, psychology and cognitive sciences), proving that the principle governs human behavior and choices. Chapter Two provides the theoretical background of the thesis in terms of its theoretical framework and discusses the terms used in the thesis’ title, i.e. hierarchy and preference. It justifies the selection of Natural Linguistics as the thesis’ theoretical framework by outlining its major assumptions and demonstrating its explanatory power. As far as the concepts of hierarchy and preference are concerned, the chapter provides their definitions and reviews their various understandings via decision theories and linguistic preference-based theories. Since the thesis investigates the principle of least effort in language and speech, Chapter Three considers the articulatory aspect of effort. It reviews the notion of easy and difficult sounds and discusses the concept of articulatory effort, overviewing its literature as well as various understandings in a chronological fashion. The chapter also presents the concept of articulatory gestures within the framework of Articulatory Phonology. The thesis’ aim is to investigate the principle of least effort on the basis of external evidence, therefore Chapters Four and Six provide evidence in terms of three experiments, text message studies (Chapter Four) and phonological processes in English (Chapter Six). Chapter Four contains evidence for the principle of least effort in articulation on the basis of experiments. It describes the experiments in terms of their predictions and methodology. In particular, it discusses the adopted measure of effort established by means of the effort parameters as well as their status. The statistical methods of the experiments are also clarified. The chapter reports on the results of the experiments, presenting them in a graphical way and discusses their relation to the tested predictions. Chapter Four establishes a hierarchy of speakers’ preferences with reference to articulatory effort (Figures 30, 31). The thesis investigates the principle of least effort in phonological processes, thus Chapter Five is devoted to the discussion of phonological processes in Natural Phonology. The chapter explains the general nature and motivation of processes as well as the development of processes in child language. It also discusses the organization of processes in terms of their typology as well as the order in which processes apply. The chapter characterizes the semantic properties of processes and overviews Luschützky’s (1997) contribution to NP with respect to processes in terms of their typology and incorporation of articulatory gestures in the concept of a process. Chapter Six investigates phonological processes. In particular, it identifies the issues of lenition/fortition definition and process typology by presenting the current approaches to process definitions and their typology. Since the chapter concludes that no coherent definition of lenition/fortition exists, it develops alternative lenition/fortition definitions. The chapter also revises the typology of phonological processes under effort management, which is an extended version of the principle of least effort. Chapter Seven concludes the thesis with a list of the concepts discussed in the thesis, enumerates the proposals made by the thesis in discussing the concepts and presents some questions for future research which have emerged in the course of investigation. The chapter also specifies the extent to which the investigation of the principle of least effort is a meaningful contribution to phonology.

Comparación de la evolución en pacientes con diagnóstico de espasmo muscular en región cervical, dorsal y lumbar, atendidos con masaje manual y pacientes tratados con vibroterapia en las edades de 20 a 70 años de ambos sexos, atendidos en el Hospital Nacional de San Francisco Gotera, departamento de Morazán, en el período de julio a septiembre de 2007.

La investigación se realizó en pacientes con diagnóstico de Espasmo Muscular en región Cervical, Dorsal y Lumbar entre las edades de 20 a 70 años de ambos sexos, atendidos en el Hospital Nacional de San Francisco Gotera, en el período de Julio a Septiembre de 2007, con el objetivo de establecer la comparación de la evolución entre los pacientes atendidos con Masaje Manual y los tratados con Vibroterapia. La muestra estuvo constituida por un total de 12 pacientes, la cual se dividió en dos grupos de 6 pacientes cada uno, en donde se atendió a un grupo con Masaje manual y el otro fue tratado con Vibroterapia. El tipo de estudio aplicado fue prospectivo y comparativo, las técnicas de obtención de información empleadas fueron la Documental como la bibliografía y la de Campo como la entrevista; la primera permitió realizar una amplia revisión de libros y diccionarios y la segunda fue destinada a la población en estudio con el fin de obtener información del estado real del paciente.

Efectividad de la aplicación de la técnica de facilitación neuromuscular propioceptiva sub-acuática combinada con fisioterapia en pacientes con debilidad muscular en miembros superiores e inferiores en edades de 30 a 70 años de ambos sexos, atendidos en el área de terapia física del Hospital Militar regional de la ciudad de San Miguel; en el periodo comprendido de julio a septiembre de 2009.

La terapia subacuática se considera una alternativa innovadora para los pacientes con algún déficit en la realización de los movimientos que se ven afectados por algún padecimiento, razón por la cual es necesario de alguna manera aumentar su fuerza que es en si la causa de la debilidad muscular. Es por ello que los ejercicios dentro del agua proporcionan un mayor rendimiento debido a las propiedades físicas de ella, ya que se logra realizar los movimientos con un grado mínimo de dificultad. Es por esta razón que se considera importante la investigación mediante el cual se beneficiaron; los pacientes ya que tuvieron la oportunidad de lograr una máxima funcionabilidad con el aumento de la fuerza muscular y mejorar su calidad de vida. Así como la institución ya que estará aportando una nueva forma de tratamiento. A los profesionales en Fisioterapia y Terapia Ocupacional el estudio permitirá conocer y aplicar una nueva modalidad de tratamiento.

Evaluación diagnóstica de la Dismorfia Muscular: una revisión sistemática

El objetivo de este estudio fue examinar las investigaciones realizadas sobre la evaluación diagnóstica de la Dismorfia Muscular (DM). Se realizó una búsqueda sistemática en las bases PsycINFO y Medline de 1997 a 2012, los descriptores fueron: "muscle dysmorphic disorder" "vigorexia" y "male". 17 estudios cumplieron los criterios de inclusión, de éstos, todos utilizaron los criterios diagnósticos propuestos por Pope et al. (1997). Aquellos con DM están preocupados por el tamaño corporal, levantan pesas de 3 a 7 días por semana, realizan dietas hiperproteicas y en ocasiones utilizan suplementos alimentarios y esteroides. En conclusión, los criterios de Pope et al. (1997) son la base para el diagnóstico de DM y el DSM-5 los retoma al reconocer e incluir a la DM como una patología.

Fishing effort and fish yield over a 15 year period on Lake Victoria, Uganda: management implications

The National Fisheries Resources Research Institute (NaFIRRI), the Directorate of Fisheries Resources (DiFR), the Local Government fisheries staff and those from the Beach Management Units (BMUs) of the riparian districts to Lake Victoria regularly and jointly conduct Frame and Catch Assessment Surveys. The information obtained is used to guide fisheries management and development. We reveal the trends in the commercial fish catch landings and fishing effort on the Uganda side of Lake Victoria, over a 15 year period (2000-2015) and provide the underlying factors to the observed changes. The contribution of the high value large size species (Nile perch and Tilapia) to the commercial catch of Lake Victoria has significantly reduced while that of the low value small size species, Mukene has increased over a ten year (2005-2015)period. The information is intended to update and sensitize the key stakeholders on the status of the Lake Victoria fisheries. In addition, the information provided is expected to guide policy formulation and management planning by the fisheries managers at all levels including the BMUs and Landing Site Management Committees (LSMCs), the Local government fisheries staff and the Directorate of Fisheries Resources. The information is anticipated to create awareness among the lakeside fisher communities to reverse the current trend in fish declines.

'Explicit Learning: an Effort towards Human Scheduling Algorithms'

Abstract Scheduling problems are generally NP-hard combinatorial problems, and a lot of research has been done to solve these problems heuristically. However, most of the previous approaches are problem-specific and research into the development of a general scheduling algorithm is still in its infancy. Mimicking the natural evolutionary process of the survival of the fittest, Genetic Algorithms (GAs) have attracted much attention in solving difficult scheduling problems in recent years. Some obstacles exist when using GAs: there is no canonical mechanism to deal with constraints, which are commonly met in most real-world scheduling problems, and small changes to a solution are difficult. To overcome both difficulties, indirect approaches have been presented (in [1] and [2]) for nurse scheduling and driver scheduling, where GAs are used by mapping the solution space, and separate decoding routines then build solutions to the original problem. In our previous indirect GAs, learning is implicit and is restricted to the efficient adjustment of weights for a set of rules that are used to construct schedules. The major limitation of those approaches is that they learn in a non-human way: like most existing construction algorithms, once the best weight combination is found, the rules used in the construction process are fixed at each iteration. However, normally a long sequence of moves is needed to construct a schedule and using fixed rules at each move is thus unreasonable and not coherent with human learning processes. When a human scheduler is working, he normally builds a schedule step by step following a set of rules. After much practice, the scheduler gradually masters the knowledge of which solution parts go well with others. He can identify good parts and is aware of the solution quality even if the scheduling process is not completed yet, thus having the ability to finish a schedule by using flexible, rather than fixed, rules. In this research we intend to design more human-like scheduling algorithms, by using ideas derived from Bayesian Optimization Algorithms (BOA) and Learning Classifier Systems (LCS) to implement explicit learning from past solutions. BOA can be applied to learn to identify good partial solutions and to complete them by building a Bayesian network of the joint distribution of solutions [3]. A Bayesian network is a directed acyclic graph with each node corresponding to one variable, and each variable corresponding to individual rule by which a schedule will be constructed step by step. The conditional probabilities are computed according to an initial set of promising solutions. Subsequently, each new instance for each node is generated by using the corresponding conditional probabilities, until values for all nodes have been generated. Another set of rule strings will be generated in this way, some of which will replace previous strings based on fitness selection. If stopping conditions are not met, the Bayesian network is updated again using the current set of good rule strings. The algorithm thereby tries to explicitly identify and mix promising building blocks. It should be noted that for most scheduling problems the structure of the network model is known and all the variables are fully observed. In this case, the goal of learning is to find the rule values that maximize the likelihood of the training data. Thus learning can amount to 'counting' in the case of multinomial distributions. In the LCS approach, each rule has its strength showing its current usefulness in the system, and this strength is constantly assessed [4]. To implement sophisticated learning based on previous solutions, an improved LCS-based algorithm is designed, which consists of the following three steps. The initialization step is to assign each rule at each stage a constant initial strength. Then rules are selected by using the Roulette Wheel strategy. The next step is to reinforce the strengths of the rules used in the previous solution, keeping the strength of unused rules unchanged. The selection step is to select fitter rules for the next generation. It is envisaged that the LCS part of the algorithm will be used as a hill climber to the BOA algorithm. This is exciting and ambitious research, which might provide the stepping-stone for a new class of scheduling algorithms. Data sets from nurse scheduling and mall problems will be used as test-beds. It is envisaged that once the concept has been proven successful, it will be implemented into general scheduling algorithms. It is also hoped that this research will give some preliminary answers about how to include human-like learning into scheduling algorithms and may therefore be of interest to researchers and practitioners in areas of scheduling and evolutionary computation. References 1. Aickelin, U. and Dowsland, K. (2003) 'Indirect Genetic Algorithm for a Nurse Scheduling Problem', Computer & Operational Research (in print). 2. Li, J. and Kwan, R.S.K. (2003), 'Fuzzy Genetic Algorithm for Driver Scheduling', European Journal of Operational Research 147(2): 334-344. 3. Pelikan, M., Goldberg, D. and Cantu-Paz, E. (1999) 'BOA: The Bayesian Optimization Algorithm', IlliGAL Report No 99003, University of Illinois. 4. Wilson, S. (1994) 'ZCS: A Zeroth-level Classifier System', Evolutionary Computation 2(1), pp 1-18.

Student, school, and country differences in sustained test-taking effort in the 2009 PISA reading assessment

In this article, the change in examinee effort during an assessment, which we will refer to as persistence, is modeled as an effect of item position. A multilevel extension is proposed to analyze hierarchically structured data and decompose the individual differences in persistence. Data from the 2009 Program of International Student Achievement (PISA) reading assessment from N = 467,819 students from 65 countries are analyzed with the proposed model, and the results are compared across countries. A decrease in examinee effort during the PISA reading assessment was found consistently across countries, with individual differences within and between schools. Both the decrease and the individual differences are more pronounced in lower performing countries. Within schools, persistence is slightly negatively correlated with reading ability; but at the school level, this correlation is positive in most countries. The results of our analyses indicate that it is important to model and control examinee effort in low-stakes assessments. (DIPF/Orig.)

Effort-reward imbalance and sedentary lifestyle: an observational study in a large occupational cohort

Objectives: To investigate the association between effort-reward imbalance (ERI) at work and sedentary lifestyle. Methods: Cross-sectional data from the ongoing Finnish Public Sector Study related to 30 433 women and 7718 men aged 17-64 were used (n = 35 918 after exclusion of participants with missing values in covariates). From the responses to a questionnaire, an aggregated mean score for ERI in a work unit was assigned to each participant. The outcome was sedentary lifestyle defined as <2.00 metabolic equivalent task (MET) hours/day. Logistic regression with generalized estimating equations was used as an analysis method to include both individual and work unit level predictors in the models. Adjustments were made for age, marital status, occupational status, job contract, smoking, and heavy drinking. Results: Twenty five percent of women and 27% of men had a sedentary lifestyle. High individual level ERI was associated with a higher likelihood of sedentary lifestyle both among women (odds ratio (OR) = 1.08, 95% CI 1.01 to 1.16) and men (OR = 1.17, 95% CI 1.02 to 1.33). These associations were not explained by relevant confounders and they were also independent of work unit level job strain measured as a ratio of job demands and control. Conclusions: A mismatch between high occupational effort spent and low reward received in turn seems to be associated with an elevated risk of sedentary lifestyle, although this association is relatively weak.

Effort-reward imbalance at work and the co-occurrence of lifestyle risk factors: cross-sectional survey in a sample of 36,127 public sector employees

Background In occupational life, a mismatch between high expenditure of effort and receiving few rewards may promote the co-occurrence of lifestyle risk factors, however, there is insufficient evidence to support or refute this hypothesis. The aim of this study is to examine the extent to which the dimensions of the Effort-Reward Imbalance (ERI) model – effort, rewards and ERI – are associated with the co-occurrence of lifestyle risk factors. Methods Based on data from the Finnish Public Sector Study, cross-sectional analyses were performed for 28,894 women and 7233 men. ERI was conceptualized as a ratio of effort and rewards. To control for individual differences in response styles, such as a personal disposition to answer negatively to questionnaires, occupational and organizational -level ecological ERI scores were constructed in addition to individual-level ERI scores. Risk factors included current smoking, heavy drinking, body mass index ≥25 kg/m2, and physical inactivity. Multinomial logistic regression models were used to estimate the likelihood of having one risk factor, two risk factors, and three or four risk factors. The associations between ERI and single risk factors were explored using binary logistic regression models. Results After adjustment for age, socioeconomic position, marital status, and type of job contract, women and men with high ecological ERI were 40% more likely to have simultaneously ≥3 lifestyle risk factors (vs. 0 risk factors) compared with their counterparts with low ERI. When examined separately, both low ecological effort and low ecological rewards were also associated with an elevated prevalence of risk factor co-occurrence. The results obtained with the individual-level scores were in the same direction. The associations of ecological ERI with single risk factors were generally less marked than the associations with the co-occurrence of risk factors. Conclusion This study suggests that a high ratio of occupational efforts relative to rewards may be associated with an elevated risk of having multiple lifestyle risk factors. However, an unexpected association between low effort and a higher likelihood of risk factor co-occurrence as well as the absence of data on overcommitment (and thereby a lack of full test of the ERI model) warrant caution in regard to the extent to which the entire ERI model is supported by our evidence.

Associações entre a potência muscular dos membros inferiores e a saúde óssea avaliada através de ultrassonografia quantitativa

Objetivo: Analisar as associações entre a potência muscular dos membros inferiores e a saúde óssea avaliada através de ultrassonografia quantitativa. Métodos: A amostra incluiu 63 crianças de 9 anos de idade. A velocidade de som (VS) do rádio e da tíbia foi avaliada através de ultrassonografia quantitativa, a potência de salto foi estimada a partir de um salto vertical com contramovimento e a maturidade somática foi determinada a partir da estimação do pico de velocidade em altura. O estado geral de saúde e o historial de fraturas foram avaliados através de questionário. As associações entre medidas dos parâmetros ósseos e a potência de salto foram analisadas através de correlações bivariadas, com as variáveis expressas em valores absolutos e relativos (estandardizados). Resultados: Foram observadas associações positivas entre a maturidade somática e a potência de salto expressa tanto em valores absolutos como relativos (p <0,05). A maturidade somática correlacionou-se ainda positivamente com a VS da tíbia nas raparigas (r=0,358, p=0,045), enquanto nos rapazes se verificou uma associação negativa, embora não significativa (r=-0,290, p=0,126). Observou-se uma associação ou propensão para associação negativa entre a VS da tíbia e a potência de salto nos rapazes (r=-0,490, p=0,007) e nas raparigas (r=-0,344, p=0,054). Conclusão: A potência de salto não parece constituir um bom marcador da saúde óssea de rapazes e raparigas de 9 anos de idade quando avaliada através de ultrassom.

Crescimento, desenvolvimento gonadal e composição muscular de matrinxãs (Brycon cephalus) submetidos à restrição alimentar e realimentação durante um ano

Neste trabalho, avaliou-se o efeito da restrição de ração alternada com realimentação no crescimento, desenvolvimento gonadal e composição muscular de matrinxãs (Brycon cephalus) adultos, de ambos os sexos, durante um ano (janeiro de 1998 a janeiro de 1999). Foram utilizados 135 peixes, separados em dois grupos: controle, alimentado diariamente até aparente saciação, e experimental, submetido ininterruptamente a ciclos de três dias de alimentação/2 dias de restrição de ração (40% de restrição ao mês). Foram realizadas 7 amostragens, nas quais foram utilizados 8 a 10 peixes por grupo. Após anestesia, os peixes foram pesados e as gônadas foram retiradas para determinação do IGS, sexo e fase do ciclo reprodutivo. Porções dos músculos branco e vermelho foram retiradas para determinação da porcentagem de lipídio total, proteína bruta, matéria seca e umidade. Os resultados mostraram que a estratégia alimentar utilizada não afetou o crescimento, o desenvolvimento gonadal e a composição muscular do matrinxã. A restrição de ração seguida por realimentação parece ter desencadeado mecanismos de ajuste metabólico para melhor utilização do alimento e aporte suficiente de energia para o crescimento, processo de maturação gonadal e composição corporal. É possível estabelecer formas de manejo alimentar mais econômicas para o matrinxã sem que processos fisiológicos importantes sejam afetados.