Portuguese consensus document for the management of alpha-1-antitrypsin deficiency.

Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in reaching a diagnosis and in making therapeutic decisions in this group of patients. This raised a need to draft a document expressing a national consensus for AATD. To this end, a group of experts in this field was created within the Portuguese Pulmonology Society - Study group on AATD, in order to elaborate the current manuscript. The authors reviewed the existing literature and provide here general guidance and extensive recommendations for the diagnosis and management of AATD that can be adopted by Portuguese clinicians from different areas of Medicine. This article is part of a supplement entitled "Portuguese consensus document for the management of alpha-1-antitrypsin deficiency" which is sponsored by Sociedade Portuguesa de Pneumologia.

The value of rapid on-site evaluation during EBUS-TBNA.

BACKGROUND: Rapid on-site evaluation (ROSE) has the potential to increase endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) accuracy in the diagnosis of mediastinal lesions and lung cancer staging. However, studies have reported controversial results. The purpose of our study was to evaluate the influence of ROSE on sample adequacy and diagnostic accuracy of EBUS-TBNA. METHODS: Prospective observational study that enrolled 81 patients who underwent EBUS-TBNA for investigation of hilo-mediastinal lesions or lung cancer staging. The first 41 patients underwent EBUS-TBNA with ROSE (ROSE group) and the last 40 patients without ROSE (non-ROSE group). Sample adequacy and diagnostic accuracy of EBUS-TBNA in both groups were compared. RESULTS: Adequate samples were obtained in 93% of the patients in the ROSE group and 80% in non-ROSE group (p=0.10). The diagnostic accuracy of EBUS-TBNA was 91% in ROSE group and 83% in non-ROSE group (p=0.08). Analyzing the EBUS-TBNA purpose, in the subgroup of patients who underwent EBUS-TBNA for investigation of hilo-mediastinal lesions, these differences between ROSE and non-ROSE group were higher compared to lung cancer staging, 93% of patients with adequate samples in the ROSE group vs. 75% in the non-ROSE group (p=0.06) and 87% of diagnostic accuracy in ROSE group vs. 77% in non-ROSE group (p=0.10). CONCLUSIONS: Despite the lack of statistical significance, ROSE appears to be particularly useful in the diagnostic work-up of hilo-mediastinal lesions, increasing the diagnostic yield of EBUS-TBNA.

[Non small cell lung cancer - comparison between clinical and pathological staging].

Lung cancer (LC) staging remains a clinical challenge as it determines the disease's prognosis and treatment. Surgery is the best option for controlling non-small cell lung cancer (NSCLC) and the only potential cure. In this setting, lung cancer staging helps select patients who will benefit from surgery, excluding inoperable patients and including patients with resectable lesions. The aim of this study is to compare clinical staging (TNMc) with pathological staging (TNMp) and to evaluate diagnosis, complementary treatment and survival of these patients. This is a retrospective study that included patients with non-small cell lung cancer or with highly suspicious lesions who had undergone surgery and were followed up in the Hospital de São João lung cancer unit between January 1999 and December 2003. It is based on clinical files and pathology reports. 73.3% of this group of 60 patients were male, with median age 59.2 years. The most frequent TNMc stages were 41.7% T1N0M0 and 36.7% T2N0M0. Thoracotomy for therapeutic purpose was per- formed in 80% and thoracotomy for diagnostic purpose also in the remaining 20%. In 6.7% the resection was incomplete. The most frequent TNMp stages were T2N0p in 33.3%, T2N1p in 15.0% and T2N2p in 13.3%. There was a significant difference between the two staging types, with upstaging in 65.0%, down staging in 67% and only 28.3% keeping the same stage. The most frequent differences were from T1N0c to T2N0p and from T2N0c to T2N1p. The global agreement between both staging methods was 21.7%. Median global survival was 43 months. In conclusion, while clinical staging was less accurate, it did not determine important changes in therapeutic strategy and survival. For the future, we should consider using other diagnostic tools and other biological factors to complement the anatomical information that we currently use.

Continuous positive airway pressure treatment for sleep apnoea: compliance increases with time in continuing users.

Continuous positive airway pressure (CPAP) remains the best treatment for sleep apnoea syndrome (SAS). In the 1990s, many authors reported on daily compliance, but all of the studies utilised relatively short periods of follow-up that did not exceed a few years. The mean annual rate of CPAP use in patients with SAS was prospectively recorded. In the current study, the results are presented along with compliance data from patients who started CPAP between 1991 and 1998 and were still using it by the end of 2003. The cohort was chosen in order to obtain >or=5 yrs of follow-up for each patient. In total, there were 204 patients. For the whole group, mean+/-sd compliance reached 321+/-90 and 393+/-84 min after 1 and 10 yrs, respectively. There was no significant change in the first 2 yrs, with a significant increase from the third year onwards. Compliance, or its evolution over time, was not correlated either to the baseline polysomnographical data (except slightly for the CPAP pressure), to the difference of these data before and under CPAP therapy, to the age of retirement or to changes in the marital status. In conclusion, very long-term compliance with continuous positive airway pressure increases by a mean of 8 min.day-1 per year of follow-up in patients with sleep apnoea syndrome.

Conjunctival biopsy in patients with leprosy.

The authors examined the eyes of 120 leprosy patients comprising of 30 cases each of tuberculoid, indeterminate, borderline and lepromatous leprosy. The investigation included biopsy of the bulbar conjunctiva on the upper temporal quadrant of the right eye. The study patients included both who were untreated, those that were being treated and those who were in observation after the end of treatment. The aim of the study was to identify the presence of M. leprae in the conjunctiva. Four such cases were found: one borderline patient with no treatment and three lepromatous patients who were being treated with MDT.

Bilateral iridocyclitis caused by Mycobacterium leprae diagnosed through paracentesis.

The authors conducted an anterior chamber paracentesis in a patient with lepromatous leprosy showing bilateral iridocyclitis. The paracentesis was performed in the outpatients department. The aqueous humor was studied by Ziehl-Nielsen staining method and the result was the isolation of the M. leprae in the anterior chamber. This study shows that M. leprae can promote uveitis in leprosy patients. Therefore, it should be looked for in patients having this type of disease.