Hypersensitivity pneumonitis: Main features characterization in a Portuguese cohort.

Hypersensitivity pneumonitis (HP) is an interstitial lung disease (ILD) which varies in prevalence across the world, depending on disease definition, diagnostic methods, exposure type and intensity, geographical environments, agricultural and industrial practices, and host risk factors. This study aimed to deepen knowledge about HP's clinical characteristics, diagnosis and functional and imaging features in a cohort of HP patients from the North of Portugal. To achieve this goal, a retrospective assessment of the clinical and diagnostic data was carried out, and patients were classified and compared according to disease presentation (acute, sub-acute and chronic HP forms). Of the 209 HP patients included (mean age 58.3 ±â€¯16.0 years), 52.6% were female and 73.7% presented a chronic form. Most patients had prior exposure to birds (76.6%). Dyspnoea and cough were the most frequently experienced symptoms, but no statistically significant differences were found between groups (p = 0.089, p = 0.418, respectively). Fever was most common in acute HP form (p < 0.001). The most common patterns found in Chest CT were ground glass (p = 0.002) in acute/subacute presentation, and reticulation (p < 0.001) in chronic form, while mosaic attenuation, although was also frequently observed, no statistically significant differences were found between groups (p = 0.512). The most common functional pattern was restrictive (38% of patients, 73.7% with chronic HP form). Bronchoalveolar lavage lymphocytes were higher in acute and subacute forms although not reaching statistical significance (p = 0.072), with lowest CD4/CD8 ratio (p = 0.001) in acute forms. Thus, given the significant disease heterogeneity, further studies with different populations and ambient exposures are needed to achieve a better stratification of the exposure risk, to provide proper implementation of avoidance methods and a precise diagnostic and therapeutic approach.

Heterozygous TERT gene mutation associated with familial idiopathic pulmonary fibrosis.

Idiopathic pulmonary fibrosis (IPF) is a chronic interstitial lung disease of unknown cause that occurs sporadically, but it can also occur in families and so named as Familial Pulmonary Fibrosis (FPF). Some forms of FPF overlaps IPF features, namely the radiological and histological pattern of usual interstitial pneumonia (UIP). Genetic and environmental factors commonly play an important role in the pathogenesis of FPF and the most commonly identified mutations involve the telomerase complex. Here, we report a rare case of FPF in a male at the age of 44, in whom genetic testing showed heterozygous variants for the telomerase reverse transcriptase gene (TERT). Our report highlights the importance of compiling a thorough family history in younger patients identified with UIP serving as a resource for identifying the current and future genetic links to disease. Families with UIP hold a great promise in defining UIP pathogenesis, potentially suggesting targets for the development of future therapies.

Asthma-COPD overlap: A Portuguese survey.

INTRODUCTION: The overlap between asthma and chronic obstructive pulmonary disease (COPD) (ACO) has been discussed for many years but clinical recommendations for this entity have been diverse. This study is intended to reach a consensus on diagnosis, treatment and patient orientation for ACO, within the Portuguese medical community. METHODS: This study was conducted by a multidisciplinary panel of experts from three distinct medical specialties (Pulmonology, Family Medicine and Immunoallergology). This panel selected a total of 190 clinicians, based on their expertise in obstructive airway diseases, to participate in a Delphi structured survey with three rounds of questionnaires. These results were ultimately discussed, in a meeting with the panel of experts and some of the study participants, and consensus was reached in terms of classification criteria, treatment and orientation of ACO patients. RESULTS: The majority of clinicians (87.2%) considered relevant the definition of an overlap entity between asthma and COPD. A consensus was achieved on the diagnosis of ACO - presence of simultaneous clinical characteristics of asthma and COPD together with a fixed airflow obstruction (FEV1/FVC<0.7) associated with 2 major criteria (previous history of asthma; presence of a previous history of smoking exposure and/or exposure to biomass combustion; positive bronchodilation test (increase in FEV1 of at least 200mL and 12%) on more than 1 occasion) plus 1 minor criteria (history of atopy; age ≥40 years; peripheral eosinophilia (>300eosinophils/µL or >5% of leukocytes); elevation of specific IgEs or positive skin tests for common allergens). A combination of inhaled corticosteroid (ICS) with long-acting beta2-agonist (LABA) or long-acting muscarinic antagonist (LAMA) was considered as first line pharmacological treatment. Triple therapy with ICS plus LABA and LAMA should be used in more severe or symptomatic cases. Non-pharmacological treatment, similar to what is recommended for asthma and COPD, was also considered highly important. A hospital referral of ACO patients should be made in symptomatic or severe cases or when there is a lack of diagnostic resources. CONCLUSIONS: This study highlights the relevance of defining ACO, within the Portuguese medical community, and establishes diagnostic criteria that are important for future interventional studies. Recommendations on treatment and patient's orientation were also achieved.

Asthma-chronic obstructive pulmonary disease overlap syndrome - Literature review and contributions towards a Portuguese consensus.

INTRODUCTION: Phenotypic overlap between the two main chronic airway pulmonary diseases, asthma and chronic obstructive pulmonary disease (COPD), has been the subject of debate for decades, and recently the nomenclature of asthma-COPD overlap syndrome (ACOS) was adopted for this condition. The definition of this entity in the literature is, however, very heterogeneous, it is therefore important to define how it applies to Portugal. METHODS: A literature review of ACOS was made in a first phase resulting in the drawing up of a document that was later submitted for discussion among a panel of chronic lung diseases experts, resulting in reflexions about diagnosis, treatment and clinical guidance for ACOS patients. RESULTS: There was a consensus among the experts that the diagnosis of ACOS should be considered in the concomitant presence of: clinical manifestations characteristic of both asthma and COPD, persistent airway obstruction (post-bronchodilator FEV1/FVC<0.7), positive response to bronchodilator test (increase in FEV1 of ≥200mL and ≥12% from baseline) and current or past history of smoking or biomass exposure. In reaching diagnosis, the presence of peripheral eosinophilia (>300eosinophils/µL or >5% of leukocytes) and previous history of atopy should also be considered. The recommended first line pharmacological treatment in these patients is the ICS/LABA association; if symptomatic control is not achieved or in case of clinical severity, triple therapy with ICS/LABA/LAMA may be used. An effective control of the exposure to risk factors, vaccination, respiratory rehabilitation and treatment of comorbidities is also important. CONCLUSIONS: The creation of initial guidelines on ACOS, which can be applied in the Portuguese context, has an important role in the generation of a broad nationwide consensus. This will give, in the near future, a far better clinical, functional and epidemiological characterization of ACOS patients, with the ultimate goal of achieving better therapeutic guidance.

Ovarian function after radioiodine therapy in patients with thyroid cancer.

OBJECTIVE: To assess ovarian function in young women treated with radioiodine. METHODS: The study was conducted on 50 women with thyroid carcinoma aged less than 40 years (mean, 29.8 years), with regular menstrual cycles and normal FSH levels prior to radioiodine therapy. FSH determination was repeated 6 and 12 months after radioiodine therapy (mean, 4.24 GBq iodine-131) and menstrual cycles were monitored during this period. RESULTS: Twenty percent of the patients reported amenorrhea during the first year. FSH levels increased after 6 months (from 5.1 +/- 1.8 to 10.6 +/- 2.2 IU/l, p < 0.00 001) and 28 % of the patients showed elevated values, which had returned to normal by the end of the first year. CONCLUSION: Radioiodine causes transitory alterations in ovarian function even in younger women and after a mean activity of 4.2 GBq (115 mCi).