Comparative evolutionary genomics of the HADH2 gene encoding Aβ-binding alcohol dehydrogenase/17β-hydroxysteroid dehydrogenase type 10 (ABAD/HSD10)

BACKGROUND: The Aβ-binding alcohol dehydrogenase/17β-hydroxysteroid dehydrogenase type 10 (ABAD/HSD10) is an enzyme involved in pivotal metabolic processes and in the mitochondrial dysfunction seen in the Alzheimer's disease. Here we use comparative genomic analyses to study the evolution of the HADH2 gene encoding ABAD/HSD10 across several eukaryotic species. RESULTS: Both vertebrate and nematode HADH2 genes showed a six-exon/five-intron organization while those of the insects had a reduced and varied number of exons (two to three). Eutherian mammal HADH2 genes revealed some highly conserved noncoding regions, which may indicate the presence of functional elements, namely in the upstream region about 1 kb of the transcription start site and in the first part of intron 1. These regions were also conserved between Tetraodon and Fugu fishes. We identified a conserved alternative splicing event between human and dog, which have a nine amino acid deletion, causing the removal of the strand β(F). This strand is one of the seven strands that compose the core β-sheet of the Rossman fold dinucleotide-binding motif characteristic of the short chain dehydrogenase/reductase (SDR) family members. However, the fact that the substrate binding cleft residues are retained and the existence of a shared variant between human and dog suggest that it might be functional. Molecular adaptation analyses across eutherian mammal orthologues revealed the existence of sites under positive selection, some of which being localized in the substrate-binding cleft and in the insertion 1 region on loop D (an important region for the Aβ-binding to the enzyme). Interestingly, a higher than expected number of nonsynonymous substitutions were observed between human/chimpanzee and orangutan, with six out of the seven amino acid replacements being under molecular adaptation (including three in loop D and one in the substrate binding loop). CONCLUSION: Our study revealed that HADH2 genes maintained a reasonable conserved organization across a large evolutionary distance. The conserved noncoding regions identified among mammals and between pufferfishes, the evidence of an alternative splicing variant conserved between human and dog, and the detection of positive selection across eutherian mammals, may be of importance for further research on ABAD/HSD10 function and its implication in the Alzheimer's disease

Pneumotórax espontâneo num pulmão vicariante

AbstractSpontaneous contralateral pneumothorax after pneumonectomy is a rare condition. A high index of suspicion is required for a correct diagnosis. Management can be challenging, as surgical intervention, if necessary, is a very high risk procedure. Chemical pleurodesis can be a simple and effective measure in cases with no major air leak. We describe the case of a 21-year-old female with spontaneous pneumothorax in a single lung, which posed several diagnostic and therapeutic problems. The presence of a “buffalo chest” made the initial chest x-ray interpretation difficult. The patient had an important air leak without complete pulmonary expansion and thoracic surgery was considered of risk. Accordingly, instillation of talc slurry through one of the thoracic drains was undertaken with eventual resolution. We are convinced that bron-co-pleural fistula resolution was facilitated by slurry talc, despite complete lung expansion never having been achieved.Rev Port Pneumol 2007; XIII (4): 613-61

Validação da versão portuguesa do Asthma Quality of Life Questionnaire de Marks (AQLQ-M)

AbstractQuality of Life is one of the leading evaluations in the diagnosis, therapy and investigation of patients with asthma. The aim of this study was to evaluate the psychometric properties of the Portuguese version of the Asthma Quality of Life Questionnaire (AQLQ-M) designed by Marks in Australia. This questionnaire consists of 20 items describing the impact of asthma on patient’s lifestyle and covers 4 dimensions (breathlessness, mood, social limitation and worrying). After a process of translation, backtranslation, and a pretest, the Portuguese version of the AQLQ-M was administered to 82 adult asthmatics living in 3 different urban areas. The following data were also recorded: age, sex, main symptoms, duration of disease, hospital visits, severity of disease, and medication. All patients performed spirometry. The reliability study (internal consistency with Cronbach s alpha coefficient and inter-item correlation analysis) gave satisfactory results (range of r=0.58 to 0.94; a=0.91 to 0.97). Results for construct validity shown that the breathlessness dimension presented the largest number of significant correlations with the most important clinical variables of asthma. In conclusion, this study has shown that the Portuguese version of the AQLQ-M has good psychometric properties, and is suitable for use on individual patients with asthma in our country.Rev Port Pneumol 2005; XI (4): 351-36

Strengths of breath-triggered inhalers in asthma management

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Indoor air pollution on nurseries and primary schools: impact on childhood asthma – study protocol

BACKGROUND: Several studies have demonstrated an association between the exposure to indoor air pollution (IAP) and childhood asthma. Evidence is suggesting that several air pollutants may contribute to both exacerbation and development of asthma, but some uncertainty remains concerning the specific causative role of IAP. This paper reports an epidemiologic study aiming to reduce the existing lacks on the association between long-term exposure to pollution mixtures and the development and exacerbation of childhood asthma. METHODS/DESIGN: Based on the implementation of the study in 8 nurseries and 8 primary schools, from which, 2 nurseries and 2 primary schools in sites influenced by traffic and other 2 nurseries and 2 primary schools in background sites at urban and rural areas, the study will analyse the exposure to both urban and rural pollution as well as to traffic emissions (some homes of the children will be included in the study). Furthermore, based on the answers to validated questionnaires (as those used in the International Study of Asthma and Allergies in Childhood - ISAAC) filled in by the parents and on medical exams, the study will assess the prevalence, incidence and exacerbation of asthma, thus considering both short and long-term effects. The approximate number of children in the study will never be less than 600, guaranteeing 80% of study power (significant at a 5% level). DISCUSSION: This study intends to contribute for the understanding of the role of environmental factors, namely indoor air pollution, on asthma considering a risk group of different ages, and for the development of preventive measures, which are considered priority issues by the European Commission, according to the European Environmental Agency and the World Health Organization

Physical activity promotion tools in the Portuguese primary health care: An implementation research

Background: This paper aims to discuss how physical activity (PA) brief assessment, brief counseling, and self-monitoring tools were designed and implemented in the Portuguese National Health Service (NHS), and to report on their current use by health professionals and citizens. Methods: Three digital tools to facilitate PA promotion in primary health care (PHC) were developed: 1) a PA brief assessment tool was incorporated in the electronic health record platform “SClínico Cuidados de Saúde Primários“; 2) a brief counseling tool was developed in the software “PEM—Prescrição Eletrónica Médica” (electronic medical prescription); and 3) a “Physical Activity Card” was incorporated in an official NHS smartphone app called “MySNS Carteira”. Results: From September 2017 to June 2019, 119,386 Portuguese patients had their PA assessed in PHC. Between December 2017 and June 2019, a total of 7957 patients received brief intervention for PA by a medical doctor. Regarding the app “MySNS Carteira”, 93,320 users activated the “Physical Activity Card”, between February 2018 and December 2018. Conclusions: These tools represent key actions to promote PA among Portuguese citizens using PHC as a priority setting. Further initiatives will follow, including proper assessment of their clinical impact and training programs for health care professionals on PA promotion.info:eu-repo/semantics/publishedVersio

Eficácia e tolerância da azitromicina versus claritromicina no tratamento das infecções do tracto respiratório inferior

ABSTRACTSeventy one patients were enrolled to an opened, comparative and randomized study to evalute the safety and efficacy of azitbromycin administered during 3 days versus clarithromycin during 10 days in the out treatment of lower respiratory tract infections. Azithromycin was given 500mg once daily and clarithromycin 250mg twice daily. A total of 51 patients (25 to azithromycin and 26 to clarythromycin) were eligible for efficacy assessment. Mean age was 42.3years (19-25), 29 (57%) patients were male and diagnosis were the following:40 (78%) exacerbations of COPD and 11 (22%) pneumonia. Both groups were similar in terms obasic details. Clinical success or improvement on final evaluation was noted in 92% of patients in the azithromycin group and in 85% in the claritbromycin group. There were no clinical failures on the azithromycin group and there were 3 on the clarithromycin group (on one of these patients there was a superinfection with E. coil). Safety was assessed in all patients randomized to the treatment groups (71 patients; 40 received azitbromycin and 31 received clarythromycin). One azitbromycin treated patient with lung cancer died with fulminating haemoptysis on the second day of treatment which was norelated to the study drug. Adverse events were reported in 3 patients all treated with clarythromycin. Regarding laboratory values there was an hematologic change related with infection resolution (leucocytes and neutrophils reduction and limphocytes increase) and there was no significant chemistry changes. Thirteen patients (8 of azithromycin group and 5 of clarithromycin group) showed laboratory abnormalities with no attributable clinical significance. In conclusion, Ibis study showed a high effectiveness of both azithromycin and clarithromycin in the treatment of lower respiratory tract infections. The study was inconclusive about the superiority of one drug over the other.REV PORT PNEUMOL 1999; V (2): 216-22

Prognostic value of NT-proBNP, adrenomedullin, copeptin and proenkephalin in patients with pulmonary hypertension

Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017.Introduction: Pulmonary hypertension (PH) comprises a group of progressive diseases characterized by an increase in pulmonary vascular resistance, leading to right ventricular dysfunction. Risk stratification is essential for prognostic evaluation and therapeutic decision, making the determination of new biomarkers important. Purpose: To assess the prognostic value of new biomarkers in the prognostic evaluation of patients with PH. Methods: Prospective cohort study of patients (pts) with PH confirmed by hemodynamic evaluation. Pts underwent clinical and laboratory evaluations at baseline and every 3 months. Follow-up lasted for 18 months. NTproBNP and the new biomarkers (adrenomedullin, copeptin and proenkephalin) were measured. The Mann-Whitney test, Kaplan-Meier survival analysis and Cox regression were used for statistical analysis. Results: Fifty one pts (75% males, mean age: 54±15 years) belonging to all groups of the WHO PH classification were included. At inclusion, all pts were in WHO functional class II or III. During the study period, 17 pts (33%) died. Baseline NTproBNP values were significantly higher in the non-survivors group (1327; 1061–2703pg/ml vs. 353.5; 190–1661pg/ml; p=0.022). The same did not occur for adrenomedullin, copeptin and proenkephalin baseline levels. The maximum NTproBNP, adrenomedullin and copeptin levels recorded during the follow-up period were significantly higher in the non-survivors group [2347.5 (1667–5073.25) pg/ml vs. 642.5 (208.25–4109.5) pg/ml, p=0.007; 53.6 (38.8- 94.2) pg/ml vs. 33.4 (27–48.8) pg/ml, p=0.0075; 20.69 (13.18–35.69) pmol/L vs. 9.97 (6.18–14.74) pmol/L, p=0.022, respectively]. This did not occur for the maximum proenkephalin level. The NT-proBNP level at admission and adremedullin level at 3 months were independent predictors of mortality (HR 2.78, CI95 1.23–6.30, p=0.01; HR 4.36, CI95 1.17–16.2, p=0.03).Conclusion: The maximum level of NTproBNP, adrenomedullin and copeptin during the follow up were associated with higher mortality in pts with PH. NTproBNP level proved to be an independent predictor of mortality in those patients. These results suggest the prognostic importance of these biomarkers in the approach of pts with PH.info:eu-repo/semantics/publishedVersio

Physical activity promotion tools in the Portuguese primary health care : an implementation research

© 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).Background: This paper aims to discuss how physical activity (PA) brief assessment, brief counseling, and self-monitoring tools were designed and implemented in the Portuguese National Health Service (NHS), and to report on their current use by health professionals and citizens. Methods: Three digital tools to facilitate PA promotion in primary health care (PHC) were developed: 1) a PA brief assessment tool was incorporated in the electronic health record platform “SClínico Cuidados de Saúde Primários“; 2) a brief counseling tool was developed in the software “PEM—Prescrição Eletrónica Médica” (electronic medical prescription); and 3) a “Physical Activity Card” was incorporated in an official NHS smartphone app called “MySNS Carteira”. Results: From September 2017 to June 2019, 119,386 Portuguese patients had their PA assessed in PHC. Between December 2017 and June 2019, a total of 7957 patients received brief intervention for PA by a medical doctor. Regarding the app “MySNS Carteira”, 93,320 users activated the “Physical Activity Card”, between February 2018 and December 2018. Conclusions: These tools represent key actions to promote PA among Portuguese citizens using PHC as a priority setting. Further initiatives will follow, including proper assessment of their clinical impact and training programs for health care professionals on PA promotion.info:eu-repo/semantics/publishedVersio