Behavioral profile of adults with Prader-Willi syndrome : correlations with individual and environmental variables

Background: Maladaptive behavior has been reported as a phenotypical feature in Prader–Willi syndrome (PWS). It severely limits social adaptation and the quality of life of children and adults with the syndrome. Different factors have been linked with the intensity and form of these behavioral disturbances but there is no consensus about the cause. Consequently, there is still controversy regarding management strategies and there is a need for new data. Methods: The behavior of 100 adults with PWS attending a dedicated center was assessed using the Developmental Behavior Checklist for Adults (DBC-A) and the PWS-specific Hyperphagia Questionnaire. The DBC-A was completed separately by trained caregivers at the center and relatives or caregivers in a natural setting. Genotype, gender, age, degree of obesity and cognitive impairment were analyzed as variables with a hypothetical influence on behavioral features. Results: Patients showed a relatively high rate of behavioral disturbances other than hyperphagia. Disruptive and social relating were the highest scoring DBC-A subscales whereas anxiety/antisocial and self-absorbed were the lowest. When hospital caregiver and natural caregiver scores were compared, scores for the latter were higher for all subscales except for disruptive and anxiety/antisocial. These effects of institutional management were underlined. In the DBC-A, 22 items have descriptive indications of PWS behavior and were used for further comparisons and correlation analysis. In contrast to previous reports, rates of disturbed behavior were lower in patients with a deletion genotype. However, the behavioral profile was similar for both genotypes. No differences were found in any measurement when comparing type I and type II deletions. The other analyzed variables showed little relevance. Conclusions: Significant rates of behavioral disorders were highlighted and their typology described in a large cohort of adults with PWS. The deletion genotype was related to a lower severity of symptoms. Some major behavioral problems, such as hyperphagia, may be well controlled if living circumstances are adapted to the specific requirements of individuals with PWS.

Use of generalised additive models to categorise continuous variables in clinical prediction

13 P.

A scheme for multiple sequences alignment optimization-an improvement based on family representative mechanics features

As a basic tool of modern biology, sequence alignment can provide us useful information in fold, function, and active site of protein. For many cases, the increased quality of sequence alignment means a better performance. The motivation of present work is to increase ability of the existing scoring scheme/algorithm by considering residue–residue correlations better. Based on a coarse-grained approach, the hydrophobic force between each pair of residues is written out from protein sequence. It results in the construction of an intramolecular hydrophobic force network that describes the whole residue–residue interactions of each protein molecule, and characterizes protein's biological properties in the hydrophobic aspect. A former work has suggested that such network can characterize the top weighted feature regarding hydrophobicity. Moreover, for each homologous protein of a family, the corresponding network shares some common and representative family characters that eventually govern the conservation of biological properties during protein evolution. In present work, we score such family representative characters of a protein by the deviation of its intramolecular hydrophobic force network from that of background. Such score can assist the existing scoring schemes/algorithms, and boost up the ability of multiple sequences alignment, e.g. achieving a prominent increase (50%) in searching the structurally alike residue segments at a low identity level. As the theoretical basis is different, the present scheme can assist most existing algorithms, and improve their efficiency remarkably.

Tendência temporal do índice de massa corporal em alistados do Brasil (1980-2005)

Apesar da crescente prevalência da obesidade em países desenvolvidos e em desenvolvimento, há pouca evidência da associação com fatores ambientais. Objetivos: Investigar a evolução temporal do IMC em jovens alistados do sexo masculino de 18 anos no Brasil entre 1980 e 2005; identificar pontos específicos de maior variância na série temporal e comparar pontos específicos no tempo, a evolução temporal do IMC com as mudanças socioeconômicas no Brasil. Métodos: O presente estudo explorou uma série temporal de 26 anos em homens brasileiros que se alistaram no período de 1980 a 2005. A amostra compreendeu cerca de 35-40% de todos os jovens brasileiros de 18 anos de idade. O peso corporal e a estatura foram obtidos no momento do exame médico durante o alistamento militar. Todas as mensurações antropométricas foram realizadas por pessoal especializado e treinado. As prevalências do sobrepeso e da obesidade foram calculadas com intervalos de confiança de 95%. Com a finalidade de testar a presença de heterocedasticidade na série do IMC, realizou-se o teste de Multiplicador de Lagrange (LM). Para os pontos no tempo, com oscilações acima da média do IMC, variáveis dummies foram testadas utilizando-se o modelo ARCH (Autoregressivo de Heterocedasticidade Condicionada), com um nível de significância de p <0,05. Para aqueles pontos no tempo com oscilações acima da média do IMC (anos de 1985, 1994 e 2000), variáveis dummy foram incluídos sob a hipótese foi de que a taxa de crescimento do IMC não fosse a mesma ao longo da série temporal. Para as possíveis explicações para os aumentos bruscos na curva do IMC, foram consideradas as alterações nos principais indicadores econômicos do Brasil (Instituto Brasileiro de Geografia e Estatística e Instituto de Pesquisa Econômica Aplicada). Os fatores econômicos analisados foram: taxa de inflação anual, produção de alimentos, pobreza (%), o consumo de refrigerantes e o rendimento médio anual. Resultados: A prevalência de sobrepeso também passou de 4,5%, em 1980, para 12,5%, em 2005, um aumento de 2,6 vezes, enquanto a prevalência de obesidade aumentou de 0,5%, em 1980, para 1,9%, em 2005, um aumento de quase 300%, mas por comparação internacional estão abaixo da média. Particularmente em 1985-6 e 1994-5, houve um aumento acentuado e significativo do IMC. Em 1985-6, a média do IMC aumentou de 21,4 kg/m2 para 21,5 kg/m2 e, em 1994-5, a média do IMC médio aumentou de 21,7 kg/m2 para 21,9 kg/m2. Nesses dois pontos (1985-1986 e 1994-1995) ocorreram logo após duas grandes mudanças políticas econômicas que aumentaram o poder de compra da população. Em 1985-6, as mudanças foram principalmente relacionadas a fatores econômicos, tais como: a redução do nível de desigualdade social; aumento da renda familiar; redução da pobreza; o controle da inflação; aumento do tempo assistindo televisão e aumento do consumo de alimentos. Em 1994-5, além das mudanças no poder de compra, houve uma modificação na atividade física obrigatória nas escolas. Conclusão: O presente estudo mostrou um aumento abrupto da obesidade na população de homens jovens no Brasil em duas ocasiões durante esta série temporal (anos de 1985-6 e 1994-5), quando uma possível redução no gasto calórico e aumento do consumo de alimentos da população foram observados.

Efficacy and safety of autologous platelet rich plasma for the treatment of vascular ulcers in primary care: Phase III study

Background: Vascular ulcers are commonly seen in daily practice at all levels of care and have great impact at personal, professional and social levels with a high cost in terms of human and material resources. Given that the application of autologous platelet rich plasma has been shown to decrease healing times in various different studies in the hospital setting, we considered that it would be interesting to assess the efficacy and feasibility of this treatment in primary care. The objectives of this study are to assess the potential efficacy and safety of autologous platelet rich plasma for the treatment of venous ulcers compared to the conventional treatment (moist wound care) in primary care patients with chronic venous insufficiency (C, clinical class, E, aetiology, A, anatomy and P, pathophysiology classification C6). Design: We will conduct a phase III, open-label, parallel-group, multicentre, randomized study. The subjects will be 150 patients aged between 40 and 100 years of age with an at least 2-month history of a vascular venous ulcer assigned to ten primary care centres. For the treatment with autologous platelet rich plasma, all the following tasks will be performed in the primary care setting: blood collection, centrifugation, separation of platelet rich plasma, activation of coagulation adding calcium chloride and application of the PRP topically after gelification. The control group will receive standard moist wound care. The outcome variables to be measured at baseline, and at weeks 5 and 9 later include: reduction in the ulcer area, Chronic Venous Insufficiency Quality of Life Questionnaire score, and percentage of patients who require wound care only once a week. Discussion: The results of this study will be useful to improve the protocol for using platelet rich plasma in chronic vascular ulcers and to favour wider use of this treatment in primary care.

Habilidades sociais de pais e mães de crianças do Rio de Janeiro: estudo preliminar sobre sua relação com as práticas e estilos parentais

O estilo parental tem influência no desenvolvimento humano e pode ser definido como um padrão de comportamentos identificáveis nos pais quando se relacionam com seus filhos. A literatura tem utilizado alguns parâmetros para compreender os estilos parentais. Um deles se caracteriza pelo binômio: limites-afeto ou responsividade e exigência, delimitando três estilos parentais: Autoritário, Permissivo e Autoritativo. O estilo autoritário caracteriza-se por pais que dão muitos limites e pouco afeto. Estes pais procuram manter a ordem e o controle da família, devendo a obediência ser alcançada ainda que sob padrões punitivos. O estilo permissivo caracteriza-se por pais que dão pouco limite e muito afeto. Nesse caso, há uma crença naturalista segundo a qual a criança deve expressar livremente suas necessidades e aprender por si só. Estes pais não se vêem como responsáveis por ensinar ou modificar comportamentos infantis. O estilo autoritativo caracteriza-se por pais que dão muito limite e muito afeto. O cuidador apresenta condutas intermediárias entre as permissivas e autoritárias, estimulando verbalizações emocionais, permitindo que os filhos participem das decisões, estimulando argumentações, autonomia e disciplina. A empatia é considerada uma habilidade essencial para a manutenção dos laços sociais, que propicia a percepção da necessidade do outro e ao mesmo tempo favorece a sensação de ser compreendido. A assertividade é a habilidade de expressar e defender sua opinião com firmeza e segurança, sem, contudo desrespeitar o outro. Esta pesquisa tem como hipótese a idéia de que pais autoritativos seriam mais empáticos e assertivos do que pais autoritários. O objetivo deste estudo foi correlacionar os Estilos Parentais s Habilidades Sociais: Assertividade e Empatia. Participaram da pesquisa 64 pais, 21 homens e 43 mulheres. Os instrumentos utilizados foram: o Inventário de Habilidades Sociais (IHS-Del Prette), ao Inventario de Empatia (IE FALCONE) e ao Parental Autority Questionary (PAQ). A Análise dos dados foi feita através do SPSS. Foram efetuadas correlações r de Person entre os fatores do PAQ e os fatores do IHS e do IE. Os resultados apontaram para uma correlação positiva (r = 0,30 ; p < 0,05) entre o fator Enfrentamento e Auto-afirmação do IHS e o estilo Autoritativo. Uma relação negativa (r = -0,24 ; p < 0,05) foi observada entre este mesmo fator e o estilo Autoritário. Em relação a empatia, os fatores Tomada de Perspectiva (r = 0,33 ; p < 0,01), Sensibilidade Afetiva (r = 0,25 ; p < 0,05) e Autruismo (r = 0,25 ; p < 0,05) correlacionaram-se positivamente ao estilos Autoritativo, Em relação ao fator Autoritário, foi verificada uma correlação negativa ( r = -0,24 ; p < 0,05) com o fator Altruísmo do IE. A partir deste resultado, foram realizadas três análises de regressão linear múltipla (stepwise) considerando cada um dos fatores do PAQ como variáveis dependentes dos fatores do IHS e do IE. Os Fatores Enfrentamento e Auto-afirmação do IHS e o fator Autruísmo do IE junto explicam 15% da variância do Fator autoritativo. Os resultados apresentados são discutidos a luz da psicologia do desenvolvimento, psicologia social e neuropsicologia.

Analysis of complete mitochondrial genome sequences increases phylogenetic resolution of bears (Ursidae), a mammalian family that experienced rapid speciation

Background: Despite the small number of ursid species, bear phylogeny has long been a focus of study due to their conservation value, as all bear genera have been classified as endangered at either the species or subspecies level. The Ursidae family repre

Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair

Background: Hair is unique to mammals. Keratin associated proteins (KRTAPs), which contain two major groups: high/ultrahigh cysteine and high glycine-tyrosine, are one of the major components of hair and play essential roles in the formation of rigid and

The evolution of YidC/Oxa/Alb3 family in the three domains of life: a phylogenomic analysis

Background: YidC/Oxa/Alb3 family includes a group of conserved translocases that are essential for protein insertion into inner membranes of bacteria and mitochondria, and thylakoid membranes of chloroplasts. Because mitochondria and chloroplasts are of b

Multi-objective optimisation of horizontal axis wind turbine structure and energy production using aerofoil and blade properties as design variables

The design of wind turbine blades is a true multi-objective engineering task. The aerodynamic effectiveness of the turbine needs to be balanced with the system loads introduced by the rotor. Moreover the problem is not dependent on a single geometric property, but besides other parameters on a combination of aerofoil family and various blade functions. The aim of this paper is therefore to present a tool which can help designers to get a deeper insight into the complexity of the design space and to find a blade design which is likely to have a low cost of energy. For the research we use a Computational Blade Optimisation and Load Deflation Tool (CoBOLDT) to investigate the three extreme point designs obtained from a multi-objective optimisation of turbine thrust, annual energy production as well as mass for a horizontal axis wind turbine blade. The optimisation algorithm utilised is based on Multi-Objective Tabu Search which constitutes the core of CoBOLDT. The methodology is capable to parametrise the spanning aerofoils with two-dimensional Free Form Deformation and blade functions with two tangentially connected cubic splines. After geometry generation we use a panel code to create aerofoil polars and a stationary Blade Element Momentum code to evaluate turbine performance. Finally, the obtained loads are fed into a structural layout module to estimate the mass and stiffness of the current blade by means of a fully stressed design. For the presented test case we chose post optimisation analysis with parallel coordinates to reveal geometrical features of the extreme point designs and to select a compromise design from the Pareto set. The research revealed that a blade with a feasible laminate layout can be obtained, that can increase the energy capture and lower steady state systems loads. The reduced aerofoil camber and an increased L/. D-ratio could be identified as the main drivers. This statement could not be made with other tools of the research community before. © 2013 Elsevier Ltd.

Origin and evolution of the RIG-I like RNA helicase gene family

Background: The DExD/H domain containing RNA helicases such as retinoic acid-inducible gene I (RIG-I) and melanoma differentiation-associated gene 5 (MDA5) are key cytosolic pattern recognition receptors (PRRs) for detecting nucleotide pathogen associated molecular patterns (PAMPs) of invading viruses. The RIG-I and MDA5 proteins differentially recognise conserved PAMPs in double stranded or single stranded viral RNA molecules, leading to activation of the interferon system in vertebrates. They share three core protein domains including a RNA helicase domain near the C terminus (HELICc), one or more caspase activation and recruitment domains (CARDs) and an ATP dependent DExD/H domain. The RIG-I/MDA5 directed interferon response is negatively regulated by laboratory of genetics and physiology 2 (LGP2) and is believed to be controlled by the mitochondria antiviral signalling protein (MAVS), a CARD containing protein associated with mitochondria. Results: The DExD/H containing RNA helicases including RIG-I, MDA5 and LGP2 were analysed in silico in a wide spectrum of invertebrate and vertebrate genomes. The gene synteny of MDA5 and LGP2 is well conserved among vertebrates whilst conservation of the gene synteny of RIG-I is less apparent. Invertebrate homologues had a closer phylogenetic relationship with the vertebrate RIG-Is than the MDA5/LGP2 molecules, suggesting the RIG-I homologues may have emerged earlier in evolution, possibly prior to the appearance of vertebrates. Our data suggest that the RIG-I like helicases possibly originated from three distinct genes coding for the core domains including the HELICc, CARD and ATP dependent DExD/H domains through gene fusion and gene/domain duplication. Furthermore, presence of domains similar to a prokaryotic DNA restriction enzyme III domain (Res III), and a zinc finger domain of transcription factor (TF) IIS have been detected by bioinformatic analysis. Conclusion: The RIG-I/MDA5 viral surveillance system is conserved in vertebrates. The RIG-I like helicase family appears to have evolved from a common ancestor that originated from genes encoding different core functional domains. Diversification of core functional domains might be fundamental to their functional divergence in terms of recognition of different viral PAMPs.

Learning a Family of Detectors

Object detection and recognition are important problems in computer vision. The challenges of these problems come from the presence of noise, background clutter, large within class variations of the object class and limited training data. In addition, the computational complexity in the recognition process is also a concern in practice. In this thesis, we propose one approach to handle the problem of detecting an object class that exhibits large within-class variations, and a second approach to speed up the classification processes. In the first approach, we show that foreground-background classification (detection) and within-class classification of the foreground class (pose estimation) can be jointly solved with using a multiplicative form of two kernel functions. One kernel measures similarity for foreground-background classification. The other kernel accounts for latent factors that control within-class variation and implicitly enables feature sharing among foreground training samples. For applications where explicit parameterization of the within-class states is unavailable, a nonparametric formulation of the kernel can be constructed with a proper foreground distance/similarity measure. Detector training is accomplished via standard Support Vector Machine learning. The resulting detectors are tuned to specific variations in the foreground class. They also serve to evaluate hypotheses of the foreground state. When the image masks for foreground objects are provided in training, the detectors can also produce object segmentation. Methods for generating a representative sample set of detectors are proposed that can enable efficient detection and tracking. In addition, because individual detectors verify hypotheses of foreground state, they can also be incorporated in a tracking-by-detection frame work to recover foreground state in image sequences. To run the detectors efficiently at the online stage, an input-sensitive speedup strategy is proposed to select the most relevant detectors quickly. The proposed approach is tested on data sets of human hands, vehicles and human faces. On all data sets, the proposed approach achieves improved detection accuracy over the best competing approaches. In the second part of the thesis, we formulate a filter-and-refine scheme to speed up recognition processes. The binary outputs of the weak classifiers in a boosted detector are used to identify a small number of candidate foreground state hypotheses quickly via Hamming distance or weighted Hamming distance. The approach is evaluated in three applications: face recognition on the face recognition grand challenge version 2 data set, hand shape detection and parameter estimation on a hand data set, and vehicle detection and estimation of the view angle on a multi-pose vehicle data set. On all data sets, our approach is at least five times faster than simply evaluating all foreground state hypotheses with virtually no loss in classification accuracy.

Chiropteran types I and II interferon genes inferred from genome sequencing traces by a statistical gene-family assembler.

BACKGROUND: The rate of emergence of human pathogens is steadily increasing; most of these novel agents originate in wildlife. Bats, remarkably, are the natural reservoirs of many of the most pathogenic viruses in humans. There are two bat genome projects currently underway, a circumstance that promises to speed the discovery host factors important in the coevolution of bats with their viruses. These genomes, however, are not yet assembled and one of them will provide only low coverage, making the inference of most genes of immunological interest error-prone. Many more wildlife genome projects are underway and intend to provide only shallow coverage. RESULTS: We have developed a statistical method for the assembly of gene families from partial genomes. The method takes full advantage of the quality scores generated by base-calling software, incorporating them into a complete probabilistic error model, to overcome the limitation inherent in the inference of gene family members from partial sequence information. We validated the method by inferring the human IFNA genes from the genome trace archives, and used it to infer 61 type-I interferon genes, and single type-II interferon genes in the bats Pteropus vampyrus and Myotis lucifugus. We confirmed our inferences by direct cloning and sequencing of IFNA, IFNB, IFND, and IFNK in P. vampyrus, and by demonstrating transcription of some of the inferred genes by known interferon-inducing stimuli. CONCLUSION: The statistical trace assembler described here provides a reliable method for extracting information from the many available and forthcoming partial or shallow genome sequencing projects, thereby facilitating the study of a wider variety of organisms with ecological and biomedical significance to humans than would otherwise be possible.

Application of the Intervention Mapping protocol to develop Keys, a family child care home intervention to prevent early childhood obesity.

BACKGROUND: Many families rely on child care outside the home, making these settings important influences on child development. Nearly 1.5 million children in the U.S. spend time in family child care homes (FCCHs), where providers care for children in their own residences. There is some evidence that children in FCCHs are heavier than those cared for in centers. However, few interventions have targeted FCCHs for obesity prevention. This paper will describe the application of the Intervention Mapping (IM) framework to the development of a childhood obesity prevention intervention for FCCHs METHODS: Following the IM protocol, six steps were completed in the planning and development of an intervention targeting FCCHs: needs assessment, formulation of change objectives matrices, selection of theory-based methods and strategies, creation of intervention components and materials, adoption and implementation planning, and evaluation planning RESULTS: Application of the IM process resulted in the creation of the Keys to Healthy Family Child Care Homes program (Keys), which includes three modules: Healthy You, Healthy Home, and Healthy Business. Delivery of each module includes a workshop, educational binder and tool-kit resources, and four coaching contacts. Social Cognitive Theory and Self-Determination Theory helped guide development of change objective matrices, selection of behavior change strategies, and identification of outcome measures. The Keys program is currently being evaluated through a cluster-randomized controlled trial CONCLUSIONS: The IM process, while time-consuming, enabled rigorous and systematic development of intervention components that are directly tied to behavior change theory and may increase the potential for behavior change within the FCCHs.

Protocol for the "Implementation, adoption, and utility of family history in diverse care settings" study.

BACKGROUND: Risk assessment with a thorough family health history is recommended by numerous organizations and is now a required component of the annual physical for Medicare beneficiaries under the Affordable Care Act. However, there are several barriers to incorporating robust risk assessments into routine care. MeTree, a web-based patient-facing health risk assessment tool, was developed with the aim of overcoming these barriers. In order to better understand what factors will be instrumental for broader adoption of risk assessment programs like MeTree in clinical settings, we obtained funding to perform a type III hybrid implementation-effectiveness study in primary care clinics at five diverse healthcare systems. Here, we describe the study's protocol. METHODS/DESIGN: MeTree collects personal medical information and a three-generation family health history from patients on 98 conditions. Using algorithms built entirely from current clinical guidelines, it provides clinical decision support to providers and patients on 30 conditions. All adult patients with an upcoming well-visit appointment at one of the 20 intervention clinics are eligible to participate. Patient-oriented risk reports are provided in real time. Provider-oriented risk reports are uploaded to the electronic medical record for review at the time of the appointment. Implementation outcomes are enrollment rate of clinics, providers, and patients (enrolled vs approached) and their representativeness compared to the underlying population. Primary effectiveness outcomes are the percent of participants newly identified as being at increased risk for one of the clinical decision support conditions and the percent with appropriate risk-based screening. Secondary outcomes include percent change in those meeting goals for a healthy lifestyle (diet, exercise, and smoking). Outcomes are measured through electronic medical record data abstraction, patient surveys, and surveys/qualitative interviews of clinical staff. DISCUSSION: This study evaluates factors that are critical to successful implementation of a web-based risk assessment tool into routine clinical care in a variety of healthcare settings. The result will identify resource needs and potential barriers and solutions to implementation in each setting as well as an understanding potential effectiveness. TRIAL REGISTRATION: NCT01956773.