Revista Portuguesa de Pneumologia (English Edition)最新文献

Background

Asthma and rhinitis have a complex etiology, depending on multiple genetic and environmental risk factors. An increasing number of susceptibility genes are currently being identified, but the majority of reported associations have not been consistently replicated across populations of different genetic backgrounds.

Purpose

To evaluate whether polymorphisms of IL4R (rs1805015), IL13 (rs20541), IL17A (rs2275913) and GSTP1 (rs1695) genes are associated with rhinitis and/or asthma in adults of Portuguese ancestry.

Methods

192 unrelated healthy individuals and 232 patients, 83 with rhinitis and 149 with asthma, were studied. All polymorphisms were detected by real time polymerase chain reaction (PCR) using TaqMan assays.

Results

Comparing to controls, significant association with asthma was observed for GSTP1 rs1695 AA genotype (odds ratio (OR) – 1.96; 95% CI – 1.18 to 3.25; p = 0.010). The association sustains for allergic asthma (OR – 2.17; 95% CI – 1.23 to 3.80; p = 0.007). IL13 rs20541 GG genotype was associated with less susceptibility to asthma (OR – 0.55, 95% CI – 0.33 to 0.94, p = 0.028). Among patients, IL17A rs2275913 AA genotype was less associated with asthma than with rhinitis (OR – 0.20; 95% CI of 0.07 to 0.56; p = 0.002). A similar association was found for IL13 rs20541 GG genotype (OR – 0.48; 95% CI of 0.25 to 0.93; p = 0.031). There were no significant differences in the distribution of allelic and genotypic frequencies between patients and controls for the IL4R polymorphism’ analyzed.

Conclusion

These results support the existence of a significant association between GSTP1 rs1695 and IL13 rs20541 SNPs, with susceptibility to asthma, in the population studied. Different genotype profiles of IL17A and IL13 genes seem to influence the clinical pattern of disease expression mainly confined to the upper airways, as rhinitis, or including the lower airways, as asthma.

Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. Although most cases are diagnosed in childhood, diagnosis in adults is apparently increasing.

Objective

Evaluate the adult population with CF, comparing patients who were diagnosed before and after 18 years of age.

Methods

Retrospective analysis of patients followed in three main medical centres in Portugal in 2012. Comparison of two groups: G1 – patients diagnosed at <18 years and G2 – patients diagnosed at ≥18 years.

Results

89 adults were identified: 61.8% in G1, 38.2% in G2. Gender distribution was similar in both groups. Average age in G2 was higher (38.3 ± 8.4 vs. 26.8 ± 6.1 years, p < 0.001). Respiratory symptoms most frequently led to CF diagnosis in all patients, mainly in adulthood. There was a greater percentage of patients homozygous for the mutation delF508 in G1 (43.6 vs. 8.8%, p = 0.02). Respiratory and pancreatic function, and body mass index (BMI) showed a higher severity in G1 (G1 vs. G2: FEV1: 54.6 ± 27.3 vs. 29.9 ± 64.6%, p = 0.177; pancreatic insufficiency 72.7 vs. 26.5%, p < 0.001; BMI 20.2 ± 3.4 vs. 22.2 ± 4.8, p = 0.018). Pseudomonas aeruginosa and methicillin-sensitive Staphylococcus aureus were the most frequently isolated microorganisms. Lung transplantation rate was higher in G2 (20.6 vs. 10.9%, p = 0.231) while mortality rate was higher in G1 (0 vs. 3.6%, p = 0.261). Hospital admission rate was higher in G1 as well as mortality rate.

Conclusion

The results suggest that patients with CF diagnosed in childhood have characteristics that distinguish them from those diagnosed in adulthood, and these differences may have implications for diagnosis, prognosis and life expectancy.

Background

Mid-regional proadrenomedullin (MR-proADM) is a novel biomarker with potential prognostic utility in patients with community-acquired pneumonia (CAP).

Purpose

To evaluate the value of MR-proADM levels at ICU admission for further severity stratification and outcome prediction, and its kinetics as an early predictor of response in severe CAP (SCAP).

Materials and methods

Prospective, single-center, cohort study of 19 SCAP patients admitted to the ICU within 12 h after the first antibiotic dose.

Results

At ICU admission median MR-proADM was 3.58 nmol/l (IQR: 2.83–10.00). No significant association was found between its serum levels at admission and severity assessed by SAPS II (Spearman's correlation = 0.24, p = 0.31) or SOFA score (SOFA < 10: <3.45 nmol/l vs. SOFA ≥ 10: 3.90 nmol/l, p = 0.74). Hospital and one-year mortality were 26% and 32%, respectively. No significant difference in median MR-proADM serum levels was found between survivors and non-survivors and its accuracy to predict hospital mortality was bad (aROC 0.53). After 48 h of antibiotic therapy, MR-proADM decreased in all but 5 patients (median −20%; IQR −56% to +0.1%). Its kinetics measured by the percent change from baseline was a good predictor of clinical response (aROC 0.80). The best discrimination was achieved by classifying patients according to whether MR-proADM decreased or not within 48 h. No decrease in MR-proADM serum levels significantly increased the chances of dying independently of general severity (SAPS II-adjusted OR 174; 95% CI 2–15,422; p = 0.024).

Conclusions

In SCAP patients, a decrease in MR-proADM serum levels in the first 48 h after ICU admission was a good predictor of clinical response and better outcome.

A worldwide rise in weight and obesity is taking place, associated with an increase in several comorbid conditions, such as Obstructive Sleep Apnea (OSA). Bariatric surgery is an effective treatment approach for obesity, with resultant improvement in obesity-related comorbidities. However, the relationship between this type of treatment and OSA is not well established. This systematic review aims to assess and characterize the impact that different types of bariatric surgery have on obese OSA patients. 22 articles with stated preoperative apnea–hypopnea index (AHI), apnea index (AI) or respiratory disturbance index (RDI) were analyzed in this review. A significant improvement in AHI/AI/RDI occurred after surgery, in addition to the foreseeable reduction in body mass index (BMI). Moreover, almost every study stated a postoperative reduction of the AHI to < 20/h and/or a >50% postoperative reduction of AHI, with few exceptions. The interventions with a combined malabsorptive and restrictive mechanism, like roux-en-Y gastric bypass (RYGB), were more efficacious in resolving and improving OSA than purely restrictive ones, like laparoscopic adjustable gastric banding (LAGB).

In conclusion, bariatric surgery has a significant effect on OSA, leading to its resolution or improvement, in the majority of cases, at least in the short/medium term (1–2 years). However, the different results must be interpreted with caution as there are many potential biases resulting from heterogeneous inclusion criteria, duration of follow-up, diagnostic methodology and assessed variables.