Zygosity Diagnosis in the Absence of Genotypic Data: An Approach Using Latent Class Analysis

For zygosity diagnosis in the absence of genotypic data, or in the recruitment phase of a twin study where only single twins from same-sex pairs are being screened, or to provide a test for sample duplication leading to the false identification of a dizygotic pair as monozygotic, the appropriate analysis of respondents' answers to questions about zygosity is critical. Using data from a young adult Australian twin cohort (N = 2094 complete pairs and 519 singleton twins from same-sex pairs with complete responses to all zygosity items), we show that application of latent class analysis (LCA), fitting a 2-class model, yields results that show good concordance with traditional methods of zygosity diagnosis, but with certain important advantages. These include the ability, in many cases, to assign zygosity with specified probability on the basis of responses of a single informant (advantageous when one zygosity type is being oversampled); and the ability to quantify the probability of misassignment of zygosity, allowing prioritization of cases for genotyping as well as identification of cases of probable laboratory error. Out of 242 twins (from 121 like-sex pairs) where genotypic data were available for zygosity confirmation, only a single case was identified of incorrect zygosity assignment by the latent class algorithm. Zygosity assignment for that single case was identified by the LCA as uncertain (probability of being a monozygotic twin only 76%), and the co-twin's responses clearly identified the pair as dizygotic (probability of being dizygotic 100%). In the absence of genotypic data, or as a safeguard against sample duplication, application of LCA for zygosity assignment or confirmation is strongly recommended.

Perceived stress as a predictor of the self-reported new diagnosis of symptomatic CHD in older women

This article describes one aspect of a prospective cohort study of 10,432 women aged between 70 and 75 years. After a 3-year period, 503 women self-reported a new diagnosis by a doctor of angina or myocardial infarction (symptomatic coronary heart disease [CHD]). Time one psychosocial variables (Duke Social Support Index, time pressure, Perceived Stress Scale, Mental Health Index, having a partner, educational attainment, and location of residence) were analyzed using univariate binary logistic regression for their ability to predict subsequent symptomatic CHD. Of these variables, the Duke Social Support Index, Perceived Stress Scale and the Mental Health Index were found to be significant predictors of symptomatic CHID diagnosis. Only the Perceived Stress Scale, however, proved to be a significant independent predictor. After controlling for time one nonpsychosocial variables, as well as the frequency of family doctor visits, perceived stress remained a significant predictor of the new diagnosis of symptomatic CHD in this cohort of older women over a 3-year period.

Diagnosis of Helicobacter pylori infection in adults with intellectual disability

Helicobacter pylori infection is common among adults with intellectual disability. The acceptabilities and accuracies of different diagnostic tests in this population are unknown. We aimed to determine (i) patient acceptability and (ii) performance characteristics of serology, fecal-antigen, and urea breath tests among adults with intellectual disability. One hundred sixty-eight such adults underwent H. pylori testing with serology and fecal-antigen tests, and a portion underwent treatment. One year later, the participants were retested with fecal-antigen, serology, and urea breath tests. The numbers of specimens obtained and difficulties in collection reported by caregivers were noted. Test performance characteristics were assessed among participants and 65 of their caregivers, using serology as the reference. All participants provided at least one specimen, despite reported collection difficulties for 23% of fecal and 27% of blood specimens. Only 25% of the participants provided breath specimens; failure to perform this test was associated with lower intellectual ability and higher maladaptive behavior. The sensitivity, specificity, and positive and negative predictive values of the fecal test (baseline and 12 months versus caregivers) were 70 and 63 versus 81, 93 and 95 versus 98, 96 and 92 versus 93, and 53 and 74 versus 93%, respectively; those of the urea breath test (12 months versus caregivers) were 86 versus 100, 88 versus 95, 75 versus 89, and 94 versus 100%, respectively. With assistance, fecal or blood specimens for H. pylori assessment can be provided by most patients with intellectual disability regardless of their level of function or behavior. Only those with greater ability can perform the urea breath test. Using serology as the reference test, the limitations of performance characteristics of the fecal-antigen and urea breath tests are similar to those among a control group of caregivers.

A new species of Solepyris Azevedo (Hymenoptera, Bethylidae) from Brazil, with amended diagnosis of the genus

Solepyris Azevedo é um gênero neotropical raramente coletado. O gênero é reconhecido dentre os gêneros de Sclerodermini por possuir a nervação das asas anteriores com apenas uma célula fechada grande. É descrita e ilustrada uma segunda espécie, Solepyris montuosus, sp. nov., do Brasil. Esta espécie é caracterizada por possuir a nervura radial da asa anterior longa. É incluída uma diagnose emendada de Solepyris unicus Azevedo. Foi fornecida uma chave para as duas espécies de Solepyris.

O desenvolvimento dos "Diagnosis Related Groups"- DRGs. Metodologia de classificação de pacientes hospitalares

É descrito o processo de desenvolvimento do sistema de classificação de pacientes internados em hospitais que atendem casos agudos, denominada Diagnosis Relatd Group - DRGs, desenvolvido e difundido por pesquisadores da Universidade de Yale, USA. Esse sistema vem a ser um instrumento que permite a mensuração do produto hospitalar, principalmente sob o ponto de vista gerencial. São apresentadas considerações acerca do que é entendido como produto hospitalar, seguindo nos meandros do desenvolvimento dos primeiros DRGs, até a mais recente revisão do sistema. É descrita sua utilização em alguns países e diversos usos potenciais desse sistema, que abrangem desde o uso para pagamento a instrumento de controle de qualidade.

DITRANS - a multi-agent system for integrated diagnosis of power transformers

This paper describes the development and the implementation of a multi-agent system for integrated diagnosis of power transformers. The system is divided in layers which contain a number of agents performing different functions. The social ability and cooperation between the agents lead to the final diagnosis and to other relevant conclusions through integrating various monitoring technologies, diagnostic methods and data sources, such as the dissolved gas analysis.

Training control centers' operators in incident diagnosis and power restoration using intelligent tutoring systems

The activity of Control Center operators is important to guarantee the effective performance of Power Systems. Operators’ actions are crucial to deal with incidents, especially severe faults like blackouts. In this paper, we present an Intelligent Tutoring approach for training Portuguese Control Center operators in tasks like incident analysis and diagnosis, and service restoration of Power Systems. Intelligent Tutoring System (ITS) approach is used in the training of the operators, having into account context awareness and the unobtrusive integration in the working environment. Several Artificial Intelligence techniques were criteriously used and combined together to obtain an effective Intelligent Tutoring environment, namely Multiagent Systems, Neural Networks, Constraint-based Modeling, Intelligent Planning, Knowledge Representation, Expert Systems, User Modeling, and Intelligent User Interfaces.

Neonatal anthropometry: a tool to evaluate the nutritional status and predict early and late risks

Neonatal anthropometry is an inexpensive, noninvasive and convenient tool for bedside evaluation, especially in sick and fragile neonates. Anthropometry can be used in neonates as a tool for several purposes: diagnosis of foetal malnutrition and prediction of early postnatal complications; postnatal assessment of growth, body composition and nutritional status; prediction of long-term complications including metabolic syndrome; assessment of dysmorphology; and estimation of body surface. However, in this age group anthropometry has been notorious for its inaccuracy and the main concern is to make validated indices available. Direct measurements, such as body weight, length and body circumferences are the most commonly used measurements for nutritional assessment in clinical practice and in field studies. Body weight is the most reliable anthropometric measurement and therefore is often used alone in the assessment of the nutritional status, despite not reflecting body composition. Derived indices from direct measurements have been proposed to improve the accuracy of anthropometry. Equations based on body weight and length, mid-arm circumference/head circumference ratio, and upper-arm cross-sectional areas are among the most used derived indices to assess nutritional status and body proportionality, even though these indices require further validation for the estimation of body composition in neonates.

Prova de esforço e factores de risco cardiovascular: um estudo piloto

As doenças cardiovasculares (DCV’s) são a maior causa de mortalidade e morbilidade em Portugal. O seu elevado impacto passa pelo desconhecimento, sub-diagnóstico, elevada prevalência e descontrolo dos seus principais factores de risco (clássicos e novos marcadores bioquímicos). Para o diagnóstico de uma das vertentes da doença cardiovascular, a doença cardíaca isquémica, a prova de esforço (PE) é o exame não invasivo, de baixo custo, com reduzida taxa de complicações e de fácil execução, mais usado na clínica. O objectivo deste estudo é averiguar se existe relação entre a prova de esforço, os factores de risco cardiovascular (FR’s) e alguns dos seus marcadores bioquímicos. Com vista a alcançar objectivo realizou-se um estudo prospectivo, longitudinal e descritivo, na Esferasaúde (Maia), entre Janeiro e Maio de 2011. Foram recolhidos dados, por inquérito, referentes a: biografia, antropometria, FR’s, medicação, PE e análises clínicas. Tendo sido incluídos todos os indivíduos (idade ≥ 18 anos) que tenham realizado prova de esforço e análises na unidade citada e com diferença temporal máxima de 2 meses, pelo método de amostragem dirigida e intencional. A dimensão amostral situou-se nos 30 elementos, sendo que 19 eram do género masculino. A média de idade foi 49,43±15,39 anos. Estimou-se a prevalência de FR’s e de indivíduos com valores dos marcadores bioquímicos anormais. Dois dos indivíduos apresentavam história de DCV’s e três deles PE positiva. Foram efectuadas diversas tentativas de associação entre as variáveis integradas no estudo - DCV e FR’s; PE e FR’s; PE e marcadores bioquímicos; capacidade de esforço e FR’s, género e resultado PE. Nenhuma relação se revelou significativa, com excepção para dois casos: relação entre as DCV’s e o aparecimento de alterações na PE (p = 0,002) e associação entre PE e colesterol HDL (p=0,040). Para α de 5%. Conclui-se que não existe relação aparente entre a prova de esforço, a existência de doença cardiovascular, os seus factores de risco e marcadores bioquímicos.

Diagnosis of Tinea pedis and onychomycosis in patients from Portuguese National Institute of Health: a four-year study

ABSTRACT - Tinea pedis and onychomycosis are two rather diverse clinical manifestations of superficial fungal infections, and their etiologic agents may be dermatophytes, non-dermatophyte moulds or yeasts. This study was designed to statistically describe the data obtained as results of analysis conducted during a four year period on the frequency of Tinea pedis and onychomycosis and their etiologic agents. A questionnaire was distributed from 2006 to 2010 and answered by 186 patients, who were subjected to skin and/or nail sampling. Frequencies of the isolated fungal species were cross-linked with the data obtained with the questionnaire, seeking associations and predisposing factors. One hundred and sixty three fungal isolates were obtained, 24.2% of which composed by more than one fungal species. Most studies report the two pathologies as caused primarily by dermatophytes, followed by yeasts and lastly by non-dermatophytic moulds. Our study does not challenge this trend. We found a frequency of 15.6% of infections caused by dermatophytes (with a total of 42 isolates) of which T. rubrum was the most frequent species (41.4%). There was no significant association (p >0.05) among visible injury and the independent variables tested, namely age, gender, owning pet, education, swimming pools attendance, sports activity and clinical information. Unlike other studies, the variables considered did not show the expected influence on dermatomycosis of the lower limbs. It is hence necessary to conduct further studies to specifically identify which variables do in fact influence such infections.

Voltammetric immunosensor for the diagnosis of celiac disease based on the quantification of anti-gliadin antibodies

Antibodies against gliadin are used to detect celiac disease (CD) in patients. An electrochemical immunosensor for the voltammetric detection of human anti-gliadin antibodies (AGA) IgA and AGA IgG in real serum samples is proposed. The transducer surface consists of screen-printed carbon electrodes modified with a carbon nanotube/gold nanoparticle hybrid system, which provides a very useful surface for the amplification of the immunological interactions. The immunosensing strategy is based on the immobilization of gliadin, the antigen for the autoantibodies of interest, onto the nanostructured surface. The antigen–antibody interaction is recorded using alkaline phosphatase labeled anti-human antibodies and a mixture of 3-indoxyl phosphate with silver ions (3-IP/Ag+) was used as the substrate. The analytical signal is based on the anodic redissolution of the enzymatically generated silver by cyclic voltammetry. The electrochemical behavior of this immunosensor was carefully evaluated assessing aspects as sensitivity, non-specific binding and matrix effects, and repeatability and reproducibility. The results were supported with a commercial ELISA test.

Diagnosis and control of polypharmacy in the elderly

The article had the purpose of commenting on studies on polypharmacy in the elderly, focusing on diagnosis and control. Polypharmacy is defined as the use of a number of medications at the same time and the use of additional drugs to correct drug adverse effects. The fact that the elderly take more medications for the treatment of several diseases makes them more susceptible to the occurrence of adverse reactions. Prophylactic actions such as balanced prescriptions are vital to reduce the incidence of these reactions and prevent longer hospital stay, increased costs and aggravation of the elderly health condition.

An ultrasound based computer-aided diagnosis tool for steatosis detection

Liver steatosis is a common disease usually associated with social and genetic factors. Early detection and quantification is important since it can evolve to cirrhosis. In this paper, a new computer-aided diagnosis (CAD) system for steatosis classification, in a local and global basis, is presented. Bayes factor is computed from objective ultrasound textural features extracted from the liver parenchyma. The goal is to develop a CAD screening tool, to help in the steatosis detection. Results showed an accuracy of 93.33%, with a sensitivity of 94.59% and specificity of 92.11%, using the Bayes classifier. The proposed CAD system is a suitable graphical display for steatosis classification.