Copy number variation of FCGR genes in etiopathogenesis of sarcoidosis.

We have previously revealed that, in contrast to polymorphism of FCGR2B and FCGR3B, polymorphism of FCGR2A, FCGR2C and FCGR3A genes, encoding receptors for Fc fragment of immunoglobulin G (Fcγ receptors), play a role in increased level of circulating immune complexes with occurrence of Mycobacterium tuberculosis heat shock proteins in patients with sarcoidosis. However, this immunocomplexemia might also be caused by decreased clearance by immune cells due to a changed copy number of FCGR genes. Thus, the next step of our study was to evaluate copy number variation of FCGR2A, FCGR2B, FCGR2C, FCGR3A and FCGR3B in this disease. The analysis was carried out by real-time quantitative PCR on 104 patients and 110 healthy volunteers. Despite previously detected variation in allele/genotype frequencies of FCGR in sarcoidosis and its particular stages, there was no copy number variation of the tested genes between sarcoidosis or its stages and healthy control, as well as between stages themselves. A relevant increase in copy number of FCGR2C and FCGR3B in Stage IV of sarcoidosis vs. other stages and controls was detected, but this observation was based on a limited number of Stage IV patients. Hence, polymorphism of FCGR genes seems to be more important than their copy number variation in etiopathogenesis of sarcoidosis in patients from the Polish population.

Tracheobronchopathia osteochondroplastica­case report and literature review.

Tracheobronchopathia osteochondroplastica (TBO) is a rare disease of unknown etiology characterised by a formation of multiple, cartilaginous and osteocartilaginous submucosal nodules in the trachea and major bronchi. The course of the disease is usually benign but the narrowing of the respiratory tract can lead to chronic non-specific clinical symptoms. We present a case of a 50-year old man with chronic exertional dyspnoea and stenosis of the trachea visible in imaging tests, in whom the symptoms were caused by TBO.

Risk factors for anaphylaxis in patients with mastocytosis.

INTRODUCTION: Symptoms resulting from the activation and release of mediators from the mast cells are observed in about 30% of the patients with mastocytosis. OBJECTIVES: The aim of the study was to assess the prevalence of anaphylactic reactions and to identify the risk factors for anaphylaxis in patients with mastocytosis depending on the type of the disease. Furthermore, we analyzed a response to treatment of mediator-related symptoms in this patient group. PATIENTS AND METHODS: The study group included 152 adult patients with mastocytosis. The diagnostic workup included a histopathological examination, flow cytometry, KIT mutation analysis, and measurement of tryptase levels. The diagnosis of allergy was confirmed by the skin prick test and serum immunoglobulin E levels. RESULTS: The prevalence of anaphylactic reactions in the study group was 50% and was higher in patients with systemic mastocytosis (P = 0.007), specifically in its indolent variant (P = 0.026), than in patients with cutaneous mastocytosis. The most frequent triggers of anaphylaxis were food (29%), insect stings (22%), and drugs (15%). Tryptase levels were higher in patients with a history of anaphylaxis (P = 0.029) as well as in those with symptoms provoked by physical factors (P = 0.002). Such symptoms were reported in 112 patients (74%) and were more common in patients with systemic mastocytosis compared with those with cutaneous mastocytosis (P = 0.026). The treatment was ineffective in 8 patients (10.5%) and resulted only in partial remission in 14 patients (18.4%). CONCLUSIONS: The study showed a significant incidence of symptoms related to physical factors in patients with mastocytosis and anaphylaxis in history. Risk factors for anaphylaxis included increased serum tryptase levels and indolent variant of systemic mastocytosis. Standard pharmacological treatment was ineffective in 10% of the patients, who may require biological treatment.  

Factors influencing adherence to treatment in COPD patients and its relationship with disease exacerbations.

INTRODUCTION: Chronic obstructive pulmonary disease (COPD) is one of the leading causes of morbidity and mortality in the world. Systematic treatment of COPD decreases symptoms and reduces the frequency of exacerbations and hospitalisations because of the disease. It is estimated that only 50% of patients use prescribed drugs systematically. The aim of this study was to identify the factors which can influence adherence to treatment of the patients who were treated due to exacerbation of COPD. MATERIAL AND METHODS: A questionnaire probe was conducted on 49 patients hospitalised at the Regional Lung and Tuberculosis Hospital in Olsztyn, Poland due to COPD exacerbation. The assessed variables were: quality of life and adherence to treatment 30 days after discharge from hospital in relationship with demographic factors, social status, disease and hospitalisation course, and relief after systematic treatment. RESULTS: Most of the patients assessed their health condition as poor and the disease as limiting their everyday social and occupational activity. 30 days after discharge from hospital the adherence rate to therapy was only 67%. There was an association between systematic treatment and the rate of exacerbations (P = 0.045) and hospitalisations (P = 0.005) but also clinical benefit after long-term treatment (P = 0.023). There were no associations between adherence to treatment and sex, place of residence, education or occupation. CONCLUSIONS: Lack of systematic treatment is the main risk factor for COPD exacerbations and hospitalisation rate. A subjective sense of relief after drugs is a factor improving patients' compliance.

Transthoracic lung ultrasonography in pulmonary alveolar proteinosis - case report.

A pulmonary alveolar proteinosis (PAP) is a rare disease characterized by an accumulation of surfactant components in lung alveoli. In diagnosis and monitoring of the disease high resolution computed tomography (HRCT) is usually used. Unfortunately, repeated exposure to CT scanning may be associated with an increased risk of radiation. We present a patient in whom repeated transthoracic lung ultrasonography (TLUS) brought parallel to HRCT data in assessing PAP extent. It may indicate that TLUS might be potentially a relevant tool in monitoring of PAP.

Intima-media thickness in patients with obstructive sleep apnea without comorbidities.

BACKGROUND: Obstructive sleep apnea (OSA) is associated with elevated risk of cardiovascular events. The early stages of vascular complications can be visualized by means of ultrasound. Intima-media thickness (IMT) correlates with the presence of risk factors of cardiovascular diseases such as hypertension, diabetes, tobacco smoking, or hyperlipidemia. However, little is known whether OSA itself may be the cause of IMT thickening. METHODS: The study group was composed of 28 patients (6 women, 22 men; mean age = 53.8 years, mean BMI = 27.1 kg/m(2), mean AHI = 22.4/h) with OSA who had no comorbidities. The control group consisted of 28 healthy subjects (6 women, 22 men; mean age = 53.9 years; mean BMI = 27.5 kg/m(2)). In both groups IMT was assessed in common carotid arteries with the use of ultrasonography. Additionally, in patients with OSA, pulse wave velocity, echocardiography, 24-h automated blood pressure monitoring, clinical signs and symptoms, and blood tests were performed to investigate possible correlations with IMT. RESULTS: Median IMT was 0.41 mm in OSA patients and 0.46 mm in the control group (p = 0.087). Echocardiography revealed left ventricle hypertrophy in 21%, systolic disorders in 8%, and diastolic disorders in 57% of the patients. In a large majority of patients, pulse wave velocity was found to be normal. IMT correlated with age (r = 0.446, p = 0.017), total cholesterol (r = 0.518, p = 0.005), daytime systolic blood pressure (r = 0.422, p = 0.025), pulse pressure 24 h and daytime (r = 0.424, p = 0.027 and r = 0.449, p = 0.019), early mitral flow/atrial mitral flow (E/A) (r = -0.429, p = 0.023), and posterior wall diameter (PWD) (r = 0.417, p = 0.270). CONCLUSION: In a relatively nonobese group of patients, no significant differences were found in the intima-media thickness between OSA patients without concomitant cardiovascular diseases and healthy controls. This may lead to the conclusion that IMT does not reflect increased risk of cardiovascular events in patients with isolated OSA.

Cellular composition of induced sputum in sarcoidosis.

INTRODUCTION: The aim of this study was to evaluate the cellular composition of induced sputum (IS) in sarcoidosis and its role in assessing the disease activity. The safety of the procedure was also determined. MATERIAL AND METHODS: Sputum induction by inhalation of hypertonic saline was performed. Twenty-one samples from the healthy controls, 32 from patients with active disease, and 33 from subjects with inactive disease were analysed. RESULTS: The percentage of lymphocytes in IS was significantly higher in active sarcoidosis than in inactive disease and the control group (9.7% vs. 3.1% vs. 2.9%), and was the highest in the patients with parenchymal changes and active disease (13.3%). The percentage of macrophages was significantly lower in active sarcoidosis than in normal subjects (76.8% vs. 83.4%). It was also significantly lower in IS in active disease and stages II and III than in both subgroups with active and inactive stage I of sarcoidosis. There were no significant differences in the IS cell percentages between the whole sarcoidosis group and the controls. Sputum induction was well tolerated and stopped only four times, two of them because of dyspnoea or the decrease of PEF. The symptoms were well reversible after administering salbutamol. CONCLUSIONS: Sputum induction by inhalation of hypertonic saline is safe, but the evaluation of IS differential cell counts is not useful in sarcoidosis diagnosing. However, it could be used in assessing the activity of the disease, especially in patients with interstitial lung changes.

The osteocalcin gene rs1800247 polymorphism in Kashubian population.

Osteocalcin is the most important noncollagenous protein component of the bone. Polymorphisms of osteocalcin gene were reported to be associated with bone mineral density. However, this relation was only confirmed in some populations. In this study presence of C/T polymorphism in osteocalcin gene (rs1800247) was determined in Kashubian population (northern Poland). The frequencies of variants were CC 9 %, TC 31 %, and TT 60 %, with no significant differences between genders. The genotypes were in Hardy-Weinberg equilibrium.

[Pulmonary actinomycosis - a case report]. / Promienica pluc - opis przypadku.

Pulmonary actinomycosis is a rare disease caused by Actinomyces sp. Its symptoms and radiological findings are not characteristic, so the diagnosis might be difficult to establish. We report a case of a 59 year old male, who developed bronchopulmonary Actinomycosis due to poor dental hygiene. The infectious process affected lung parenchyma and infiltrated chest wall causing multifocal sternal osteolisis and multiple cutaneous fistulas. The radiological findings sugested neoplasmatical process. The diagnosis was based on histopatological findings of fistular scrapes. The material contained Actinomyces colonies. Afler 6 months of antibiotic therapy the patient's state improved and the cutaneous fistulas healed. Radiological finding revealed partial resolution of the lung infiltration.

Integrated care for patients with advanced chronic obstructive pulmonary disease: a new approach to organization.

Chronic obstructive pulmonary disease (COPD) affects approximately 10% of the population aged above 40 years. In advanced COPD (forced expiratory volume in 1 second <50% of the predicted value), patients suffer from severe pulmonary symptoms including dyspnea, chronic cough, poor exercise tolerance, which are commonly associated with systemic disorders, such as osteoporosis, loss of fat-free body mass, fatigue, anxiety, and depression. Moreover, patients with advanced COPD experience annually an average of 2 to 3 episodes of exacerbations requiring hospitalization. We present here a model of integrated care based on the cooperation between medical staff, social workers, volunteers and patients and their families. The essential components of this model are intensive education, treatment supervision, and support in self-management as well as coping with the disease and its consequences. It is expected that these measures will result in a decreased number of exacerbations requiring hospitalization, improved disease course, and better quality of life.

[Accuracy of spirometry performed by general practitioners and pulmonologists in Pomeranian Region in the "Prevention of COPD" NHS program]. / Ocena poprawnosci wykonania badania spirometrycznego przez lekarzy podstawowej opieki zdrowotnej oraz pneumonologów w ramach ogólnopolskiego programu Narodowego Funduszu Zdrowia: "Profilaktyka POChP".

INTRODUCTION: Spirometry is the key test in diagnosing and severity assessment of chronic obstructive pulmonary disease (COPD). Despite the simplicity of the test, the discrepancy between results obtained by general practitioners and specialists is noted, what may lead to under- or overestimating of COPD prevalence. The aim of the study was to evaluate the quality of spirometry testing and interpretation performed by general practitioners and pulmonologists. MATERIAL AND METHODS: Physicians from 56 healthcare units in the region of Pomerania were included. The participants (both GPs and pulmonologists) were trained in methodology and interpretation of spirometry tests. Then they were asked to choose 10 spirograms and send them for evaluation. Presence of patients' personal details and signature of staff member, contents of graphs and tables, accuracy of the test and correctness of interpretation were evaluated. In statistical analysis c-square test was used. RESULTS: The response from 14 healthcare units was received including 142 spirograms from GPs and 80 from pulmonologists. All spirograms contained personal details, gender, age, body weight and height as well as results of spirometry in form of tables and diagrams with predicted and measured values. Pulmonologists signed the spirograms more often than GPs (91% v. 77%, p<0.001) and more often presented results of properly performed tests (75% v. 45%, p<0.0001). However, in their group there were more interpretation errors (73% v. 91%, p<0.05). Methodological mistakes revealed during the study were usually: too short and not enough dynamic inspiration and expiration. In some cases spirograms with expiration lasting 1.3 sec were considered normal. The most common interpretation mistakes included: diagnosis of mixed-type ventilatory defects, wrong classification of obstruction level and lack of interpretation. In two cases result was found to be normal despite the lack of forced expiratory volume in one second value. CONCLUSION: The results indicate the necessity of continuous training in spirometry testing and interpretation by both general practitioners and specialists and nurses.

[Style of coping with stress and emotional functioning in patients with asthma]. / Styl radzenia sobie ze stresem a funkcjonowanie emocjonalne u chorych na astme.

INTRODUCTION: The evaluation of styles of coping with stress resulting from a somatic disease was always considered controversial, since the stress is a consequence of the complexity of the disease as a stressful event and is linked with every field of human life and activity. The main aim of this study was to evaluate the effectiveness of various styles of coping with stress - task-oriented, emotion-oriented, or avoidance-oriented - used by patients with asthma to cope with their disease and its consequences. MATERIAL AND METHODS: 100 patients with asthma were examined including 15 with mild asthma, 40 with moderate asthma, and 45 with severe asthma. The first group consisted of patients with mild-to-moderate asthma and the second group of patients with severe asthma. The subjects were mainly females (69% women, 31% men) aged from 19 to 75 years, with at least primary level of education. The following questionnaires were used: Coping Inventory for Stressful Situations (CISS), UWIST Mood Adjective Check List (UMACL), and Asthma Control Test (ACT). RESULTS: Task-oriented style had a positive influence on emotions (p < 0.05) in patients with moderate asthma. Avoidance-oriented style had a positive influence on emotions (p < 0.05) in patients with severe asthma. Emotion-oriented style proved ineffective and had a negative influence on emotions (p < 0.05) in all patients. CONCLUSIONS: Coping style plays a key role in the emotional functioning of asthmatics. Moreover, incorporation of an individual style of coping with stress in the therapeutic process is necessary.

[Invasive aspergillosis of the paranasal sinuses, lung and brain]. / Inwazyjna grzybica kropidlakowa zatok przynosowych, pluc i mózgowia.

A case of invasive aspergillosis (IA) of paranasal sinuses, lung and brain with a fulminant fatal outcome is reported. A 43-year-old man with a history of skin carcinoma of the nasal region and a course of systemic corticosteroids, presented with symptoms of lung infection. Aspergillus fumigatus was cultured from respiratory and nasal samples. Erosion of adjacent bones of the nasal cavity was acknowledged, but no sinus surgery was performed. A computed tomography of the thorax showed thick-walled cavities of different sizes with air and scarce fluid levels in both lungs. Treatment with voriconazole was administered. The patient deteriorated in the ensuing 2 weeks because central nervous system involvement was observed. No aggressive surgical resection was performed and the patient died 2 weeks later. IA was not confirmed by histopathology because no necropsy was performed.

[Isolated sarcoidosis of upper respiratory tract--a description of 2 cases]. / Izolowana sarkoidoza górnych dróg oddechowych--opis 2 przypadków.

Sarcoidosis is a granulomatous disease of unknown etiology. In sarcoidosis almost all organs can be involved but the disease most often affects the lungs and intrathoracic lymph nodes. Isolated extrapulmonary organs involvement occurs very seldom. We present two cases of sarcoidosis limited to upper respiratory tract--a young woman with laryngeal sarcoidosis and recurrent throat pain, and a woman with disease of the sinuses and pharynx and clinical symptoms of chronic sinusitis poorly responsive to conventional treatment.

[The effects of pulmonary rehabilitation on the quality of life in patients with COPD]. / Wplyw rehabilitacji na jakosc zycia u chorych na przewlekla obturacyjna chorobe pluc.

INTRODUCTION: Chronic obstructive pulmonary disease (COPD) is a leading cause of morbidity, hospitalization and disability among lung diseases. Its chronic, progressive nature and acute exacerbations influence the quality and expectancy of life of COPD patients. The pulmonary rehabilitation is a basic non-pharmacological intervention in COPD and its role is increasing in recent years. The goal of this work was to evaluate the impact on quality of life patients undergoing 3 weeks pulmonary rehabilitation program. MATERIAL AND METHODS: 132 patients with COPD were admitted to pulmonary rehabilitation program; 70 completed the 3 weeks long program. Pulmonary function tests, exercise endurance, quality of life (St. George's Respiratory Questionnaire) were measured at baseline, 3 weeks, and 3 months. RESULTS: There was significant improvement in quality of life in St. George's Respiratory Questionnaire and exercise endurance (treadmill) measured at 3 weeks and at 3 months. Parameters of lung function tests did not improved after completion of rehabilitation. CONCLUSIONS: 3 weeks pulmonary rehabilitation program of patients with COPD was effective in improving exercise endurance and the quality of life. The improvement was noted as well at 3 months post rehabilitation.

[Quality of life of patients with asthma which has been well and poorly controlled]. / Jakosc zycia chorych na astme dobrze i zle kontrolowana.

INTRODUCTION: The aim of the study was to assess the quality of life of patients with asthma who were well and poorly controlled. MATERIAL AND METHODS: 70 patients with diagnosed asthma, aged from 18 to 40, were included into the study between November 2005 and February 2006 at the Specialist Hospital in Chojnice and Allergy out-patient Clinic of Medical University of Gdansk. The diagnosis and stage of asthma, as well as the assessment of the control of disease was performed by the physician. Quality of life was assessed with the use of St. George Respiratory Questionnaire (SGRQ). Statistical analysis was made with the use of computer statistical program Statistica. RESULTS: According to GINA in 26 patients mild asthma was diagnosed, in 31 - moderated and in 13 - severe disease. 41 patients were assessed as well controlled and 29 - as poorly controlled. Older age and longer duration of the disease were related to severe asthma, p = 0.01 and p = 0.003, respectively. In well controlled patients overall score for SGRQ was 48.86, whereas in poorly controlled was - 74.4. There was a significant difference between the overall quality of life in well and poorly controlled patients with asthma, p = 0.0001. This difference was found in all three domains: for symptoms, activity and impact on life, p = 0.014, p = 0.035 and p = 0.003, respectively. CONCLUSIONS: Quality of life is strongly dependent on the control of symptoms in asthmatic patients.

[Is COPD an autoimmune disease caused by smoking?]. / Czy PoChP jest choroba autoimmunologiczna powodowana przez palenie papierosów?

Cigarette smoking is the main trigger for the development of chronic obstructive pulmonary disease (COPD). For years the inflammatory reaction in COPD was focused on neutrophils, macrophages and protease-antiprotease balance. The concept of inflammation has been changed since the findings in the bronchoalveolar lavage (BAL) of smokers and COPD patients. It is now evident that the inflammatory reaction composed of neutrophils and macrophages represents the innate immunity reaction. This reaction will proceed over time to damage the lung, producing peptides and modified proteins from matrix destruction, cell necrosis and cell apoptosis. These products have the potential to act as antigen determinants. Dendritic cells which are abundantly present in smokers' lungs are important link between innate and adaptive immunity involving T-cells. These cells mature and migrate to draining lymphatic organs, where they could present antigens to CD-4+ and CD-8+. T-cells that induce their activation and differentiation. As a result T-cells are important component of the chronic inflammation in smokers and in COPD patients. So one of the possible conclusions could be that COPD is a disease produced, at least in part, by self-antigens from the lung secondary to smoking.

[Assessment of exercise test and bronchial reversibility test as tools for asthma diagnosis in patients with normal spirometry]. / Ocena przydatnosci testu wysilkowego w rozpoznawaniu astmy oskrzelowej u osób z prawidlowymi wynikami badan spirometrycznych.

UNLABELLED: The bronchial obturation reversibility test is the corner stone in asthma diagnosis. Patients with signs and symptoms suggestive of asthma but normal spirometry need additional tests like non-specific bronchoprovocations. Exercise-induced bronchi spasm is a feature of asthma and is the basis for exercise-test bronchi provocation in asthma diagnosis. The aim of this study was the comparison of clinical utility of obturation reversibility test and exercise provocation test in asthma diagnosis in patients with normal spirometry values. METHODS AND MATERIAL: The study was comprised of 77 subjects: 47 suspected to have asthma on history and 30 healthy volunteers. The inclusion criterion was: normal spirometry values. The obturation reversibility test was carried out in the study group. All participants had exercise test based on bicycle ergometer. The burden was adjusted so that the heart rate was at the submaximal level throughout the whole procedure. Spirometry values and peak expiratory flow (mini-Wright meter) were measured right after completion of the test and 5, 10, 15 and 20 minutes after completion of the test. The exercise test was considered positive when FEV1 declined by 15% or PEF declined by 20% in comparison to the initial value, respectively. RESULTS: The obturation reversibility test was positive in 15 (31.9%) and negative in 32 (68.1%) patients from the study group. In the study group exercise test was positive according to FEV1 decline in 35 (74.5%) subjects, and only in 18 (38.3%) if PEF decline was a criterion. In the control group just 1 (3.3%) test turned out positive by FEV1 change and 3 (10%) were positive if PEF decline was measured. On the basis of positive exercise test and patient history the diagnosis of bronchial asthma was established in 35 (74.4%) patients. Among them--24 had sporadic asthma, 8 mild chronic asthma and 3 moderate chronic asthma. CONCLUSIONS: 1. Exercise test is a valuable diagnostic tool in patients with history suggestive of asthma and normal spirometry results and negative obturation reversibility test. 2. The parameter for the exercise test that best separate asthma and control group was FEV1.