1,721,088 research outputs found
What is the knowledge on alpha-1 antitrypsin deficiency among Italian pulmonologists?
No full textIntroduction. Alpha-1 antitrypsin Deficiency (AATD) is a genetic disorder conferring increased risk of developing lung and liver disease. Its prevalence in Italy is not clearly ascertained but certainly there is a great discrepancy between expected and observed cases. Knowledge of a disease is a pre-condition to diagnose it. Aim of the present study was to ascertain the status of the knowledge on AATD among Italian Pulmonologists. Materials and methods. An electronic Survey on AATD was designed. The Survey was repeatedly electronically sent to 250 Heads of Pulmonary Departments in Italy between September and December 2011. It comprised a general and a specific part on AATD, including eight questions. Questions were focused on clinical characteristics, prevalence, diagnosis and treatment of pulmonary manifestations. For each question three answers were available, only one was correct. Results. Only 21.5% of pulmonologists participated to the Survey. The majority of participants gave a correct answer to questions regarding: clinical manifestations, % of subject with COPD affected by AATD, how to diagnose AATD, patients at risk of AATD to be tested for it, differences between treatment of COPD without vs. with AATD, indications to replacement therapy (RT) with exogenous AAT, GOLD stage in which RT is more effective, while the majority of participants thought that AATD in Europe is much rarer (1/20.000) than what is estimated to be (1/5.000). Discussion. The data show that Italian pulmonologists are aware of AATD and are knowledgeable about this condition. However, the response rate was low questioning the representativeness of the examined sample. In addition the majority of participant believe that AATD in Italy is much rarer than what expected from available genetic epidemiology data
Genetics of idiopathic disseminated bronchiectasis
No full textBronchiectasis is an abnormal dilation of bronchi, consequent to the destruction of their walls. It is included in the category of obstructive pulmonary diseases, along with chronic obstructive pulmonary disease (COPD), asthma, and cystic fibrosis. In approximately 50% of cases, bronchiectasis is associated with underlying conditions; in the remainder, known causes are not ascertainable (idiopathic bronchiectasis). A search for genetic determinants of this phenotype, with the cystic fibrosis gene as a candidate, has been performed by three independent groups. The results of this search agreed on the association of bronchiectasis with cystic fibrosis gene mutations and polymorphisms. The cystic fibrosis gene is also associated with bronchiectasis due to rheumatoid arthritis and allergic bronchopulmonary aspergillosis. A few other genes have been investigated in idiopathic bronchiectasis, with negative results. Idiopathic bronchiectasis is, therefore, to be considered as an obstructive multifactorial disorder belonging to the category of cystic fibrosis monosymptomatic diseases (or CFTR-opathies), whose pathogenesis is influenced by environmental factors and other undetermined genes
RAGE receptor: a novel pro-inflammatory pathway for chronic respiratory disorders?
No full textInterstitial pneumonites represent a heterogeneous group of respiratory disorders with known causes or idiopathic, in which alveolar injury is followed by defense and repair mechanisms either with pro- and anti-inflammatory properties. It is hypothetised that common factors would orchestrate such events, and RAGE is one of possible such candidates. Implications connected to RAGE pathway in varying interstitial pneumonites are discussed
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
- …
