Cytokine gene polymorphisms in idiopathic pulmonary fibrosis

Pro- and anti-fibrotic cytokine gene polymorphisms may affect expression of idiopathic pulmonary fibrosis (IPF). The aims of the present case-control study were to examine polymorphisms in the IL-6, transforming growth factor (TGF)-beta1, tumour necrosis factor (TNF)-alpha and interleukin-1 (IL-1)Ra genes in patients with IPF (n=22)-compared to healthy controls (n=140). Genotyping was performed on DNA extracted from peripheral blood lymphocytes, using polymerase chain reaction-restriction fragment length polymorphism with gene polymorphisms determined according to-published techniques. The following sites were examined: (i) IL-1Ra*1-5 (86 bp variable tandem repeat intron 2), (ii) IL-6 (-174G>C), (iii) TNF-alpha (-308G>A) and (iv) TGF-beta1 (Arg25Pro). The TNF-alpha (-308 A) allele was over-represented in the IPF (p(corr)=0.004) group compared to controls. Risk of IPF was significant for heterozygotes for: (i) the TNF-alpha (-308 A) allele (A/G) (odds ratio (OR) 2.9; 95% confidence interval (CI) 1.2-7.2; P=0.02), (ii) homozygotes (A/A) (OR 13.9; 95%CI 1.2-160; P=0.04) and (iii) carriage of the allele (A/A+A/G) (OR 4; 95%CI 1.6-10.2; P=0.003). The distribution of alleles and genotypes for IL-6, TGF-beta1 and IL-1Ra between the two groups was not significantly different. This is the third study to independently confirm that there is a significant association of the TNF-alpha (-308 A) allele with IPF. Further research is needed to assess the utility of cytokine gene polymorphisms as markers of disease-susceptibility.

Proinsulin is encoded by an RNA splice variant in human blood myeloid cells

Genes for peripheral tissue-restricted self-antigens are expressed in thymic and hematopoietic cells. In thymic medullary epithelial cells, self-antigen expression imposes selection on developing autoreactive T cells and regulates susceptibility to autoimmune disease in mouse models. Less is known about the role of self-antigen expression by hematopoietic cells. Here we demonstrate that one of the endocrine self-antigens expressed by human blood myeloid cells, proinsulin, is encoded by an RNA splice variant. The surface expression of immunoreactive proinsulin was significantly decreased after transfection of monocytes with small interfering RNA to proinsulin. Furthermore, analogous to proinsulin transcripts in the thymus, the abundance of the proinsulin RNA splice variant in blood cells corresponded with the length of the variable number of tandem repeats 5' of the proinsulin gene, known to be associated with type 1 diabetes susceptibility. Self-antigen expression by peripheral myeloid cells extends the umbrella of immunological self and, by analogy with the thymus, may be implicated in peripheral immune tolerance.

The influence of climate on the dispersal of lichen soredia

The relationship between the daily deposition of soredia of Hypogymnia physodes (L.) Nyl. and local climatic records was studied in the field during three periods at a site in Seattle, WA, U.S.A: (1) 11 August – 16 September 1986 (Study A); (2) 16 December – 11 January 1987 (Study B) and (3) 8 July 1988 – 30 January 1989 (Study C). The soredia were trapped on adhesive strips placed at various locations on a Prunus blireiana L. tree for 24 hr periods. A correlation matrix of the data from all three studies revealed a negative correlation between soredial deposition and relative humidity; and a positive correlation with rainfall and temperature. A multiple regression and forward stepwise regression analysis selected relative humidity as the most significant climatic variable, i.e. more soredia tended to be deposited when relative humidity was low. Analysis of individual studies by multiple regression revealed: (1) no significant relationships between soredial deposition and climate in Study A; (2) positive relationships with temperature and wind speed in Study B and (3) positive relationships with wind speed and rainfall in the summer/autumn months of Study C; in the winter months no relationships with climate were found because few soredia were deposited. The data suggest that in the field seasonal photoperiod differences combined with moderately high temperatures and high relative humidity may promote soredial formation and accumulation on thalli prior to soredia dispersal. In addition, low relative humidity may promote soredial release while wind and raindrops may be possible agents of dispersal.

Statistical analysis in microbiology:statnotes

This book is aimed primarily at microbiologists who are undertaking research and who require a basic knowledge of statistics to analyse their experimental data. Computer software employing a wide range of data analysis methods is widely available to experimental scientists. The availability of this software, however, makes it essential that investigators understand the basic principles of statistics. Statistical analysis of data can be complex with many different methods of approach, each of which applies in a particular experimental circumstance. Hence, it is possible to apply an incorrect statistical method to data and to draw the wrong conclusions from an experiment. The purpose of this book, which has its origin in a series of articles published in the Society for Applied Microbiology journal ‘The Microbiologist’, is an attempt to present the basic logic of statistics as clearly as possible and therefore, to dispel some of the myths that often surround the subject. The 28 ‘Statnotes’ deal with various topics that are likely to be encountered, including the nature of variables, the comparison of means of two or more groups, non-parametric statistics, analysis of variance, correlating variables, and more complex methods such as multiple linear regression and principal components analysis. In each case, the relevant statistical method is illustrated with examples drawn from experiments in microbiological research. The text incorporates a glossary of the most commonly used statistical terms and there are two appendices designed to aid the investigator in the selection of the most appropriate test.

Incremental nature of anterior eye grading scales determined by objective image analysis

Aim: To use previously validated image analysis techniques to determine the incremental nature of printed subjective anterior eye grading scales. Methods: A purpose designed computer program was written to detect edges using a 3 × 3 kernal and to extract colour planes in the selected area of an image. Annunziato and Efron pictorial, and CCLRU and Vistakon-Synoptik photographic grades of bulbar hyperaemia, palpebral hyperaemia roughness, and corneal staining were analysed. Results: The increments of the grading scales were best described by a quadratic rather than a linear function. Edge detection and colour extraction image analysis for bulbar hyperaemia (r2 = 0.35-0.99), palpebral hyperaemia (r2 = 0.71-0.99), palpebral roughness (r2 = 0.30-0.94), and corneal staining (r2 = 0.57-0.99) correlated well with scale grades, although the increments varied in magnitude and direction between different scales. Repeated image analysis measures had a 95% confidence interval of between 0.02 (colour extraction) and 0.10 (edge detection) scale units (on a 0-4 scale). Conclusion: The printed grading scales were more sensitive for grading features of low severity, but grades were not comparable between grading scales. Palpebral hyperaemia and staining grading is complicated by the variable presentations possible. Image analysis techniques are 6-35 times more repeatable than subjective grading, with a sensitivity of 1.2-2.8% of the scale.

Diagnóstico e tratamento do TDA/H: investigação dos critérios utilizados por diferentes categorias profissionais da cidade de Natal-RN

TDA/H is usually considered among the most frequent psychological malfunctions in both childhood and adolescence. It covers a complex combination of neurocognitive deficits leading to developmental troubles linked to attention failure, hyperactivity and impulsivity. On the other hand, diagnosis of TDA/H is frequently a hard task, since sociocultural aspects concerning the evaluation of symptoms lead to some etiologic vagueness. Additionally, the large extent of evaluation tools, together with the diversity of therapeutic approaches referred by specialized literature justify the interest of investigating the diverse ways of diagnosing and treating TDA/H by medical doctors, psychologists and psycho-pedagogues developing professional activities in Natal-RN (Brazil) in the assistance of children and teenagers with TDA/H diagnosis hypothesis. A sample of thirty-four professionals participated in this study in a convenience-basis, and submitted to a semi-directed interview. Information from this procedure was analyzed, categorized and submitted to a multidimensional descriptive analysis (cluster analysis procedure), allowing to verify the partition of the sample in two groups: Group 1, basically composed by medical professionals, and Group 2, composed by psychologists and psycho-pedagogues. The categorized variable “Number of sessions” – average time used for arriving to a diagnosis – was the partition-variable showing the larger amount of statistical contribution for the partition, followed by the variables “Professional formation” and “Use of diagnostic tools”. Variables such “Comorbidity”, “TDA/H Definition” and Modalities of Intervention” also showed contribution to the partition obtained, even though their lesser amount of statistical contribution. Despite some similarity between these two groups, data allowed to demonstrate specific association between academic source-formation of the professional concerned and diagnosis and intervention modalities shown by these professionals when dealing with TDA/H. These data confirm relevant heterogeneity in dealing with TDA/H due to professional formation of professionals involved in diagnosis and treatment tasks.

Diagnóstico e tratamento do TDA/H: investigação dos critérios utilizados por diferentes categorias profissionais da cidade de Natal-RN

TDA/H is usually considered among the most frequent psychological malfunctions in both childhood and adolescence. It covers a complex combination of neurocognitive deficits leading to developmental troubles linked to attention failure, hyperactivity and impulsivity. On the other hand, diagnosis of TDA/H is frequently a hard task, since sociocultural aspects concerning the evaluation of symptoms lead to some etiologic vagueness. Additionally, the large extent of evaluation tools, together with the diversity of therapeutic approaches referred by specialized literature justify the interest of investigating the diverse ways of diagnosing and treating TDA/H by medical doctors, psychologists and psycho-pedagogues developing professional activities in Natal-RN (Brazil) in the assistance of children and teenagers with TDA/H diagnosis hypothesis. A sample of thirty-four professionals participated in this study in a convenience-basis, and submitted to a semi-directed interview. Information from this procedure was analyzed, categorized and submitted to a multidimensional descriptive analysis (cluster analysis procedure), allowing to verify the partition of the sample in two groups: Group 1, basically composed by medical professionals, and Group 2, composed by psychologists and psycho-pedagogues. The categorized variable “Number of sessions” – average time used for arriving to a diagnosis – was the partition-variable showing the larger amount of statistical contribution for the partition, followed by the variables “Professional formation” and “Use of diagnostic tools”. Variables such “Comorbidity”, “TDA/H Definition” and Modalities of Intervention” also showed contribution to the partition obtained, even though their lesser amount of statistical contribution. Despite some similarity between these two groups, data allowed to demonstrate specific association between academic source-formation of the professional concerned and diagnosis and intervention modalities shown by these professionals when dealing with TDA/H. These data confirm relevant heterogeneity in dealing with TDA/H due to professional formation of professionals involved in diagnosis and treatment tasks.

EUSAAR size distribution analysis database

Two years of harmonized aerosol number size distribution data from 24 European field monitoring sites have been analysed. The results give a comprehensive overview of the European near surface aerosol particle number concentrations and number size distributions between 30 and 500 nm of dry particle diameter. Spatial and temporal distribution of aerosols in the particle sizes most important for climate applications are presented. We also analyse the annual, weekly and diurnal cycles of the aerosol number concentrations, provide log-normal fitting parameters for median number size distributions, and give guidance notes for data users. Emphasis is placed on the usability of results within the aerosol modelling community. We also show that the aerosol number concentrations of Aitken and accumulation mode particles (with 100 nm dry diameter as a cut-off between modes) are related, although there is significant variation in the ratios of the modal number concentrations. Different aerosol and station types are distinguished from this data and this methodology has potential for further categorization of stations aerosol number size distribution types. The European submicron aerosol was divided into characteristic types: Central European aerosol, characterized by single mode median size distributions, unimodal number concentration histograms and low variability in CCN-sized aerosol number concentrations; Nordic aerosol with low number concentrations, although showing pronounced seasonal variation of especially Aitken mode particles; Mountain sites (altitude over 1000 m a.s.l.) with a strong seasonal cycle in aerosol number concentrations, high variability, and very low median number concentrations. Southern and Western European regions had fewer stations, which decreases the regional coverage of these results. Aerosol number concentrations over the Britain and Ireland had very high variance and there are indications of mixed air masses from several source regions; the Mediterranean aerosol exhibit high seasonality, and a strong accumulation mode in the summer. The greatest concentrations were observed at the Ispra station in Northern Italy with high accumulation mode number concentrations in the winter. The aerosol number concentrations at the Arctic station Zeppelin in Ny-Ålesund in Svalbard have also a strong seasonal cycle, with greater concentrations of accumulation mode particles in winter, and dominating summer Aitken mode indicating more recently formed particles. Observed particles did not show any statistically significant regional work-week or weekday related variation in number concentrations studied. Analysis products are made for open-access to the research community, available in a freely accessible internet site. The results give to the modelling community a reliable, easy-to-use and freely available comparison dataset of aerosol size distributions.

Síndrome de Burnout : um estudo com guias de turismo regional em Natal-RN

Burnout is a psychological syndrome triggered in response to continuous exposure to interpersonal stressors. It is considered a multifactorial construct, which is commonly characterized by three dimensions: emotional exhaustion, dehumanization, and lack of personal accomplishment.This study aimed to verify if the three characteristics of burnout (exhaustion, lack of dehumanization and personal accomplishment) are present in people working as guides Tourism in Natal - RN. It is a descriptive and quantitative study. 109 subjects were surveyed. Data collection was done through the use of questionnaires, the instrument used was the characterization of the Burnout Scale (ECB) created and validated in Brazil by Trocoli and Tamayo (2000). In order to analyze data we used descriptive statistics, analysis of core measures, exploratory and confirmatory factor analysis, reliability analysis, cluster analysis, multiple discriminant and Spearman correlation. Factor analysis identified four factors that explain 58.3% of the total variance. Those factors were named exhaustion, deception, avoidance, and dehumanization. The reliability of the instrument, as measured by Cronbach's Alpha was 0.918, which is considered excellent reliability. The 109 subjects were grouped into three cluster, which had the deception, avoidance, and dehumanization as discriminant. It is possible to conclude that the characteristics of burnout syndrome are present in the studied population where 19 people are on the high level of burnout, moderate in 32 and 56 in the light. The correlations between socio-demographic variables studied and the dimensions of burnout, were few and weak. The variable leave for health reasons in the study appeared to be related to feelings of exhaustion and avoidance behavior appeared related to younger individuals and who work only in the activity of Receptive Tourism Guide. Verification of the incidence of burnout in individuals surveyed suggest the need to adopt intervention strategies are individual, organizational and / or combined

Spam campaign detection, analysis, and formalization

Les courriels Spams (courriels indésirables ou pourriels) imposent des coûts annuels extrêmement lourds en termes de temps, d’espace de stockage et d’argent aux utilisateurs privés et aux entreprises. Afin de lutter efficacement contre le problème des spams, il ne suffit pas d’arrêter les messages de spam qui sont livrés à la boîte de réception de l’utilisateur. Il est obligatoire, soit d’essayer de trouver et de persécuter les spammeurs qui, généralement, se cachent derrière des réseaux complexes de dispositifs infectés, ou d’analyser le comportement des spammeurs afin de trouver des stratégies de défense appropriées. Cependant, une telle tâche est difficile en raison des techniques de camouflage, ce qui nécessite une analyse manuelle des spams corrélés pour trouver les spammeurs. Pour faciliter une telle analyse, qui doit être effectuée sur de grandes quantités des courriels non classés, nous proposons une méthodologie de regroupement catégorique, nommé CCTree, permettant de diviser un grand volume de spams en des campagnes, et ce, en se basant sur leur similarité structurale. Nous montrons l’efficacité et l’efficience de notre algorithme de clustering proposé par plusieurs expériences. Ensuite, une approche d’auto-apprentissage est proposée pour étiqueter les campagnes de spam en se basant sur le but des spammeur, par exemple, phishing. Les campagnes de spam marquées sont utilisées afin de former un classificateur, qui peut être appliqué dans la classification des nouveaux courriels de spam. En outre, les campagnes marquées, avec un ensemble de quatre autres critères de classement, sont ordonnées selon les priorités des enquêteurs. Finalement, une structure basée sur le semiring est proposée pour la représentation abstraite de CCTree. Le schéma abstrait de CCTree, nommé CCTree terme, est appliqué pour formaliser la parallélisation du CCTree. Grâce à un certain nombre d’analyses mathématiques et de résultats expérimentaux, nous montrons l’efficience et l’efficacité du cadre proposé.

Síndrome de Burnout : um estudo com guias de turismo regional em Natal-RN

Burnout is a psychological syndrome triggered in response to continuous exposure to interpersonal stressors. It is considered a multifactorial construct, which is commonly characterized by three dimensions: emotional exhaustion, dehumanization, and lack of personal accomplishment.This study aimed to verify if the three characteristics of burnout (exhaustion, lack of dehumanization and personal accomplishment) are present in people working as guides Tourism in Natal - RN. It is a descriptive and quantitative study. 109 subjects were surveyed. Data collection was done through the use of questionnaires, the instrument used was the characterization of the Burnout Scale (ECB) created and validated in Brazil by Trocoli and Tamayo (2000). In order to analyze data we used descriptive statistics, analysis of core measures, exploratory and confirmatory factor analysis, reliability analysis, cluster analysis, multiple discriminant and Spearman correlation. Factor analysis identified four factors that explain 58.3% of the total variance. Those factors were named exhaustion, deception, avoidance, and dehumanization. The reliability of the instrument, as measured by Cronbach's Alpha was 0.918, which is considered excellent reliability. The 109 subjects were grouped into three cluster, which had the deception, avoidance, and dehumanization as discriminant. It is possible to conclude that the characteristics of burnout syndrome are present in the studied population where 19 people are on the high level of burnout, moderate in 32 and 56 in the light. The correlations between socio-demographic variables studied and the dimensions of burnout, were few and weak. The variable leave for health reasons in the study appeared to be related to feelings of exhaustion and avoidance behavior appeared related to younger individuals and who work only in the activity of Receptive Tourism Guide. Verification of the incidence of burnout in individuals surveyed suggest the need to adopt intervention strategies are individual, organizational and / or combined

POPLAR GENE EXPRESSION DATA ANALYSIS PIPELINES

Analyzing large-scale gene expression data is a labor-intensive and time-consuming process. To make data analysis easier, we developed a set of pipelines for rapid processing and analysis poplar gene expression data for knowledge discovery. Of all pipelines developed, differentially expressed genes (DEGs) pipeline is the one designed to identify biologically important genes that are differentially expressed in one of multiple time points for conditions. Pathway analysis pipeline was designed to identify the differentially expression metabolic pathways. Protein domain enrichment pipeline can identify the enriched protein domains present in the DEGs. Finally, Gene Ontology (GO) enrichment analysis pipeline was developed to identify the enriched GO terms in the DEGs. Our pipeline tools can analyze both microarray gene data and high-throughput gene data. These two types of data are obtained by two different technologies. A microarray technology is to measure gene expression levels via microarray chips, a collection of microscopic DNA spots attached to a solid (glass) surface, whereas high throughput sequencing, also called as the next-generation sequencing, is a new technology to measure gene expression levels by directly sequencing mRNAs, and obtaining each mRNA’s copy numbers in cells or tissues. We also developed a web portal (http://sys.bio.mtu.edu/) to make all pipelines available to public to facilitate users to analyze their gene expression data. In addition to the analyses mentioned above, it can also perform GO hierarchy analysis, i.e. construct GO trees using a list of GO terms as an input.

Book review: Laurel Kamada, Hybrid Identities and Adolescent Girls: Being Half in Japan. Bristol: Multilingual Matters, 2010

Arguably, the catalyst for the best research studies using social analysis of discourse is personal ‘lived’ experience. This is certainly the case for Kamada, who, as a white American woman with a Japanese spouse, had to deal first hand with the racialization of her son. Like many other mixed-ethnic parents, she experienced the shock and disap-pointment of finding her child being racialized as ‘Chinese’ in America through peer group taunts, and constituted as gaijin (a foreigner) in his own homeland of Japan. As a member of an e-list of the (Japan) Bilingualism Special Interest Group (BSIG), Kamada learnt that other parents from the English-speaking foreign community in Japan had similar disturbing stories to tell of their mixed-ethnic children who, upon entering the Japanese school system, were mocked, bullied and marginalized by their peers. She men-tions a pervasive Japanese proverb which warns of diversity or difference getting squashed: ‘The nail that sticks up gets hammered down’. This imperative to conform to Japanese behavioural and discursive norms prompted Kamada’s quest to investigate the impact of ‘otherization’ on the identities of children of mixed parentage. In this fascinat-ing book, she shows that this pressure to conform is balanced by a corresponding cele-bration of ‘hybrid’ or mixed identities. The children in her study are also able to negotiate their identities positively as they come to terms with contradictory discursive notions of ‘Japaneseness’, ‘whiteness’ and ‘halfness/doubleness’.The discursive construction of identity has become a central concern amongst researchers across a wide range of academic disciplines within the humanities and the social sciences, and most existing work either concentrates on a specific identity cate-gory, such as gender, sexuality or national identity, or else offers a broader discussion of how identity is theorized. Kamada’s book is refreshing because it crosses the usual boundaries and offers divergent insights on identity in a number of ways. First, using the term ‘ethno-gendering’, she examines the ways in which six mixed-ethnic girls living in Japan accomplish and manage the relationship between their gender and ethnic ‘differ-ences’ from age 12 to 15. She analyses in close detail how their actions or displays within certain situated interactions might come into conflict with how they are seen or constituted by others. Second, Kamada’s study builds on contemporary writing on the benefits of hybridity where identities are fluid, flexible and indeterminate, and which contest the usual monolithic distinctions of gender, ethnicity, class, etc. Here, Kamada carves out an original space for her findings. While scholars have often investigated changing identities and language practices of young people who have been geographi-cally displaced and are newcomers to the local language, Kamada’s participants were all born and brought up in Japan, were fluent in Japanese and were relatively proficient in English. Third, the author refuses to conceptualize or theorize identity from a single given viewpoint in preference to others, but in postmodernist spirit draws upon multiple perspectives and frameworks of discourse analysis in order to create different forms of knowledge and understandings of her subject. Drawing on this ‘multi-perspectival’ approach, Kamada examines grammatical, lexical, rhetorical and interactional features from six extensive conversations, to show how her participants position their diverse identities in relation to their friends, to the researcher and to the outside world. Kamada’s study is driven by three clear aims. The first is to find out ‘whether there are any tensions and dilemmas in the ways adolescent girls of Japanese and “white” mixed parentage in Japan identify themselves in terms of ethnicity’. In Chapter 4, she shows how the girls indeed felt that they stood out as different and consequently experienced isolation, marginalization and bullying at school – although they were able to make better sense of this as they grew older, repositioning the bullies as pitiable. The second aim is to ask how, if at all, her participants celebrate their ethnicity, and furthermore, what kind of symbolic, linguistic and social capital they were able to claim for themselves on the basis of their hybrid identities. In Chapter 5, Kamada shows how the girls over time were able to constitute themselves as insiders while constituting ‘the Japanese’ as outsiders, and their network of mixed-ethnic friends was a key means to achieve this. In Chapter 6, the author develops this potential celebration of the girls’ mixed ethnicity by investigating the privileges they perceived it afforded them – for example, having the advantage of pos-sessing English proficiency and intercultural ‘savvy’ in a globalized world. Kamada’s third aim is to ask how her participants positioned themselves and performed their hybrid identities on the basis of their constituted appearance: that is, how the girls saw them-selves based on how they looked to others. In Chapter 7, the author shows that, while there are competing discourses at work, the girls are able to take up empowering positions within a discourse of ‘foreigner attractiveness’ or ‘a white-Western female beauty’ discourse, which provides them with a certain cachet among their Japanese peers. Throughout the book, Kamada adopts a highly self-reflexive perspective of her own position as author. For example, she interrogates the fact that she may have changed the lived reality of her six participants during the course of her research study. As the six girls, who were ‘best friends’, lived in different parts of the Morita region of Japan, she had to be proactive in organizing six separate ‘get-togethers’ through the course of her three-year study. She acknowledges that she did not collect ‘naturally occurring data’ but rather co-constructed opportunities for the girls to meet and talk on a regular basis. At these meetings, she encouraged the girls to discuss matters of identity, prompted by open-ended interview questions, by stimulus materials such as photos, articles and pic-tures, and by individual tasks such as drawing self-portraits. By giving her participants a platform in this way, Kamada not only elicited some very rich spoken data but also ‘helped in some way to shape the attitudes and self-images of the girls positively, in ways that might not have developed had these get-togethers not occurred’ (p. 221). While the data she gathers are indeed rich, it may well be asked whether there is a mismatch between the girls’ frank and engaging accounts of personal experience, and the social constructionist academic register in which these are later re-articulated. When Kamada writes, ‘Rina related how within the more narrow range of discourses that she had to draw on in her past, she was disempowered and marginalized’ (p. 118), we know that Rina’s actual words were very different. Would she really recognize, understand and agree with the reported speech of the researcher? This small omission of self-reflexivity apart – an omission which is true of most lin-guistic ethnography conducted today – Kamada has written a unique, engaging and thought-provoking book which offers a model to future discourse analysts investigating hybrid identities. The idea that speakers can draw upon competing discourses or reper-toires to constitute their identities in contrasting, creative and positive ways provides linguistic researchers with a clear orientation by which to analyse the contradictions of identity construction as they occur across time in different discursive contexts

Two Novel Mutations In The Thyroid Hormone Receptor β In Patients With Resistance To Thyroid Hormone (rth β): Clinical, Biochemical, And Molecular Data.

The syndrome of resistance to thyroid hormone (RTH β) is an inherited disorder characterized by variable tissue hyposensitivity to 3,5,30-l-triiodothyronine (T3), with persistent elevation of free-circulating T3 (FT3) and free thyroxine (FT4) levels in association with nonsuppressed serum thyrotropin (TSH). Clinical presentation is variable and the molecular analysis of THRB gene provides a short cut diagnosis. Here, we describe 2 cases in which RTH β was suspected on the basis of laboratory findings. The diagnosis was confirmed by direct THRB sequencing that revealed 2 novel mutations: the heterozygous p.Ala317Ser in subject 1 and the heterozygous p.Arg438Pro in subject 2. Both mutations were shown to be deleterious by SIFT, PolyPhen, and Align GV-GD predictive methods.

Tempo de reação, tempo de movimento e aquisição de timing antecipatorio em idosos

Universidade Estadual de Campinas. Faculdade de Educação Física