Severe COPD cases from Korea, Poland, and USA have substantial differences in respiratory symptoms and other respiratory illnesses.

Purpose: Chronic obstructive pulmonary disease (COPD), characterized by irreversible airflow obstruction, is a major cause of morbidity and mortality worldwide. However, geographic differences in the clinical characteristics of severe COPD patients have not been widely studied.

Methods: We recruited a total of 828 severe COPD cases from three continents.

Genetic Association and Risk Scores in a Chronic Obstructive Pulmonary Disease Meta-analysis of 16,707 Subjects.

The heritability of chronic obstructive pulmonary disease (COPD) cannot be fully explained by recognized genetic risk factors identified as achieving genome-wide significance. In addition, the combined contribution of genetic variation to COPD risk has not been fully explored. We sought to determine: (1) whether studies of variants from previous studies of COPD or lung function in a larger sample could identify additional associated variants, particularly for severe COPD; and (2) the impact of genetic risk scores on COPD.

Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.

Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide. We performed a genetic association study in 15,256 cases and 47,936 controls, with replication of select top results (P < 5 × 10) in 9,498 cases and 9,748 controls. In the combined meta-analysis, we identified 22 loci associated at genome-wide significance, including 13 new associations with COPD.

Exome Array Analysis Identifies a Common Variant in IL27 Associated with Chronic Obstructive Pulmonary Disease.

Rationale: Chronic obstructive pulmonary disease (COPD) susceptibility is in part related to genetic variants. Most genetic studies have been focused on genome-wide common variants without a specific focus on coding variants, but common and rare coding variants may also affect COPD susceptibility.

Objectives: To identify coding variants associated with COPD.

CHRNA3/5, IREB2, and ADCY2 are associated with severe chronic obstructive pulmonary disease in Poland.

We examined the association between single-nucleotide polymorphisms (SNPs) previously associated with chronic obstructive pulmonary disease (COPD) and/or lung function with COPD and COPD-related phenotypes in a novel cohort of patients with severe to very severe COPD. We examined 315 cases of COPD and 330 Caucasian control smokers from Poland. We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).

Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP.

Multiple intergenic single-nucleotide polymorphisms (SNPs) near hedgehog interacting protein (HHIP) on chromosome 4q31 have been strongly associated with pulmonary function levels and moderate-to-severe chronic obstructive pulmonary disease (COPD). However, whether the effects of variants in this region are related to HHIP or another gene has not been proven. We confirmed genetic association of SNPs in the 4q31 COPD genome-wide association study (GWAS) region in a Polish cohort containing severe COPD cases and healthy smoking controls (P = 0.

[The coexistence of the impaired exercise tolerance in patients with obstructive sleep apnea with gastroesophageal reflux].

Introduction: Gastroesophageal reflux (GERD) is a frequent disease in patients with obstructive sleep apnea (OSA). The aim of the study was to evaluate possible correlation between the impairement of exercise tolerance and GERD.

Material And Methods: We examined 18 patients with OSA, mean AHI - 44 +/- 22; 6 females, 12 males, mean age 55 +/- 9 years.

[A 30-year history of a patient with bronchiectasis].

We describe the long-term course of a patient with bronchiectasis. Sequential chest X-rays, symptoms, spirometry and blood gas analysis obtained during the observation period showed gradual progression. Conservative medical management was implemented in the treatment of described patient.

[Gastroesophageal reflux disease (GERD) in patients with obstructive sleep apnoea syndrome (OSAS)].

Gastroesophageal reflux disease (GERD) is a common cause of chronic cough, heartburn, epigastric or retrosternal discomfort, chest pain and abdominal pain or esophagitis. Our patients with OSAS seldom manifest GERD symptoms. We suspected that obesity and high pressure in abdominal cavity may induce acid gastroesophageal reflux in these patients.

[The variability of clinical presentation of chronic obstructive pulmonary disease in patients with hereditary alpha-1 antitrypsin deficiency].

Four patients with alpha-1 antitrypsin (alpha-1 AT) deficiency are presented: one woman with severe (phenotype PiZ) and 3 men with moderate (phenotype PiMZ) deficiency of alpha-1 AT. The variability of clinical presentation of hereditary emphysema is described. In all patients tobacco smoking history, spirometric and 6-minutes walking tests as well as HRCT of the lung were performed and compared.

[Solitary fibrous tumor of the pleura in 75-year old woman].

A 75-year-old asymptomatic woman with stable coronary heart disease presented tumor in lower left lobe on routine chest radiograph. A CT scan showed a large sharply delineated mass at this site (84 x 52 x 90 mm). There were no signs of infiltration, no abnormalities were seen in mediastinal structures and on the right side.

Pulmonary haemodynamics in patients with OSAS or an overlap syndrome.

Background: Alveolar hypoxia is the most important mechanism leading to pulmonary arterial vasoconstriction, remodelling and pulmonary hypertension. Patients with Obstructive Sleep Apnoea Syndrome (OSAS) experience multiple short periods of alveolar hypoxia during apnoeic episodes. However, the question as to whether these hypoxic episodes are responsible for the development of permanent pulmonary hypertension is still debatable.

[Pulmonary hypertension in patients with pure obstructive sleep apnea].

Unlabelled: Patients with obstructive sleep apnoea (OSA) every night experience recurrent episodes of alveolar hypoxia. Alveolar hypoxia is the most potent pulmonary vasoconstrictor causing remodeling of pulmonary arteries and pulmonary hypertension. Development of pulmonary hypertension in patients with OSA is rather rarely observed but still discussed.

[Effect of nocturnal hypoxaemia on the development of pulmonary hypertension in patients with COPD].

Majority of subjects with severe COPD develop mild pulmonary hypertension. Those patients usually present with diurnal, resting hypoxaemia. Further hypoxaemic dips during sleep probably contribute to development permanent pulmonary hypertension.

[Comparison of pulmonary hemodynamics in patients with COPD and patients with overlap syndrome with similar severity of airway obstruction and gas exchange].

It may be assumed that pulmonary hypertension due to apnea related desaturations during sleep develops earlier in the natural course of the overlap syndrome (OS) than in patients with COPD only. We aimed to verify this hypothesis by comparing pulmonary haemodynamics in COPD patients and patients with OS with similar severity of airway limitation and of pulmonary gas exchange. We studied pulmonary haemodynamics in 17 males with OS--group I (mean AHI 63.

[Effects of nocturnal desaturation on pulmonary hemodynamics in patients with overlap syndrome (chronic obstructive pulmonary disease and obstructive sleep apnea)].

We studied pulmonary haemodynamics and nocturnal desaturation in 17 patients with an overlap syndrome (OS), all males, mean age 51.4 +/- 8.3 years, mean BMI 37 +/- 4.

[Effect of nocturnal hypoxia on pulmonary hemodynamics in patients with obstructive sleep apnea].

Effects of apnoea induced nocturnal hypoxia on pulmonary haemodynamics (PH) in pts with OSA are still under debate. We studied PH in 67 pts (64 M and 3 F) mean +/- SD: age 45 +/- 8 years, with severe OSA, AHI 62 +/- 22. Patients had normal spirometry: FVC 98 +/- 15% N, FEV1 97 +/- 16% N and arterial blood gases--PaO2 72 +/- 10 mmHg, PaCO2 40 +/- 4 mmHg.

[Usefulness of CD1 expression on surfaces of cells in bronchoalveolar fluid for diagnosis of histiocytosis X--our experience].

Histiocytosis X (HX), also referred as Langerhans cell granulomatosis is a disorder characterized by the presence of destructive granulomas containing Langerhans cells, lymphocytes, eosinophils and fibroblastes in the involved organs. Three presentations are commonly observed: 1) nonproductive cough or effort dyspnea, 2) spontaneous pneumothorax 3) incidental pulmonary infiltrates on chest X-ray in asymptomatic patients. HRCT may be helpful in the initial diagnosis of pulmonary HX.

[Functional disturbances in patients with interstitial lung diseases without signs of restriction].

Restriction is a typical functional abnormality in interstitial lung diseases (ILD) patients but not all of them represent this pattern. The aim of this study was to evaluate 164 patients with ILD in whom normal lung volumes (FVC and TLC > 80% predicted) were found. There were 111 patients with sarcoidosis (phase I--9, II--77, III--25 patients), 25 patients with pulmonary fibrosis, 12 patients with allergic alveolitis and 16 patients with disseminated radiological changes in the lungs of different etiology.

[Spirometric and exercise tolerance improvement after lung volume reduction surgery in a patient with emphysema].

A 59 year old man, ex smoker, with severe emphysema and marked exercise intolerance was subjected to unilateral lung volume reduction surgery. The permanent improvement in lung function tests, arterial blood gases and exercise tolerance lasting up to two years was observed.

Effects of long-term oxygen therapy on pulmonary hemodynamics in COPD patients: a 6-year prospective study.

Objective: To investigate effects of 6 years of domiciliary oxygen therapy on pulmonary hemodynamics in a large group of COPD patients.

Design: Prospective longitudinal study with serial measurements.

Setting: Research institute of pulmonary diseases.

[Intralobar pulmonary sequestration treated surgically in a patient with sarcoidosis].

Pulmonary sequestration is an uncommon but clinically significant congenital malformation characterised by the presence of nonfunctioning lung tissue that receives its blood supply from anomalous systemic arteries and has no communication with the normal bronchial tree. We describe a patient with an intralobar pulmonary sequestration of the left lower lobe associated with sarcoidosis. The patient was treated successfully by resection of the lesion.