[Late diagnosis of Gaucher's disease - care reports]. / Pózne rozpoznawanie choroby Gauchera ­ opisy przypadków.

Gaucher's disease if one of the most frequent, among extremely rare, lysosomal storage diseases. It is the autosomal recessive inherited metabolic disorder, which can present in three main clinical forms. Type 1 - the most benign, in a not-neuropathic form, and types 2 and 3, both in neuropathic form, which manifest serious neurological symptoms. AIM: The aim of the study was to draw attention to the late diagnosing of Gaucher's disease in the Polish population and to popularize the knowledge about this ultra-rare disease. CASE REPORTS: Having analyzed the cases of our patients, we have concluded that the diagnosis of Gaucher's disease type 1 is often made with a time delay of up to several years. The lack of deeper knowledge about the disease and its symptoms among the physicians was found a main reason for this time lag. The disease is usually not taken into consideration in difference diagnosis due to its "ultra-rare" character. Furthermore, the course of the disease is usually occult with no spectacular symptoms, whereas the frequently occurring chronic weakness and bone pains are not treated as serious pathology. CONCLUSIONS: Early diagnosis of the Gaucher's disease gives patients the chance of an appropriate, effective substitutive therapy, as well as recovery of organ disturbances.

[Pneumomediastinum - a case report]. / Odma sródpiersiowa - opis przypadku.

UNLABELLED: Pneumomediastinum is a rare disorder which often occurs without symptoms. It is sometimes a result of an injury but most often it is spontaneous. Pneumothorax may be iatrogenic; one of the reasons might be tracheotomy. Pneumomediastinum in some cases may be the threat to life and health. In this rare cases surgical intervention is needed, however pneumomediastinum is usually spontaneously absorbed. AIM: The aim of this study was to present the differential diagnosis of pneumomediastinum based on the case of a 60-year-old woman with tracheostomy, diagnosed eight years ago with generalized irreversible narrowing of the trachea and bronchi (suspicion of tracheobronchopathia osteochondroplastica). A CASE REPORT: Patient complained of increasing shortness of breath, dry cough and symptoms of upper respiratory tract infections for 2 weeks. In chest CT pneumomediastinum was detected. During bronchoscopy and endoscopic examination of trachea and larynx, no focal lesions of upper respiratory tract and bronchi were detected. By using noninvasive treatment, clinical improvement was achieved. In control chest CT, significant resorption of the air from the mediastinum was detected. Pneumomediastinum occurs often without characteristic symptoms or can be asymptomatic and it is discovered incidentally. If there is no obvious trauma, the cause is usually unknown. In the presented case, after exclusion of the majority of possible causes, we suspected that pneumomediastinum was a complication of tracheotomy but it was not confirmed in endoscopy. It might have been a complication of severe coughing in the course of upper respiratory tract infection or it might have been spontaneous. CONCLUSIONS: Patient complained of increasing shortness of breath, dry cough and symptoms of upper respiratory tract infections for 2 weeks. In chest CT pneumomediastinum was detected. During bronchoscopy and endoscopic examination of trachea and larynx, no focal lesions of upper respiratory tract and bronchi were detected. By using noninvasive treatment, clinical improvement was achieved. In control chest CT, significant resorption of the air from the mediastinum was detected. Pneumomediastinum occurs often without characteristic symptoms or can be asymptomatic and it is discovered incidentally. If there is no obvious trauma, the cause is usually unknown. In the presented case, after exclusion of the majority of possible causes, we suspected that pneumomediastinum was a complication of tracheotomy but it was not confirmed in endoscopy. It might have been a complication of severe coughing in the course of upper respiratory tract infection or it might have been spontaneous.

[Ventilatory disorders in patients with chronic heart failure]. / Zaburzenia czynnosci wentylacyjnej pluc u pacjentów z przewlekla niewydolnoscia serca.

Chronic heart failure (CHF) is a condition in which both structure and functional capacity of cardiac muscle are impaired, resulting in ineffective peripheral tissue perfusion. Affecting numerous organs and systems, it is currently considered to be a systemic illness. Among significant, however until now, hardly recognized consequences of CHF there are ventilatory disorders. Their presence may be explained by proximity of heart and lungs inside rib cage or by close functional cooperation between these two organs. Ventilatory disorders clinically manifest as exacerbations of the underlying disease, i.e. intense dyspnea--primarily exertional in nature, over time, present even at rest. On the basis of functional pulmonary tests, ventilatory disorders may be classified into three categories: restrictive, obstructive and most commonly--mixed. The restrictive model is represented in bodypletysmography as reduction in the total lung capacity to values less than 5th percentile of the predicted values for normals, while Tiffeneau index remains intact. Such condition may probably result from the chronic inflammatory process affecting lung tissue, for which the reaction of macrophage cells to both pulmonary stasis, as well as increased volume of interstitial and alveolar fluid remains the underlying cause. The increased formation of connective tissue fibers engenders thickening of alveolar-capillary membrane, occurrence of disturbed oxygen diffusion and emergence of hypoxemic respiratory failure. Ventilatory disorders of obstructive nature are characterised by reduction of Tiffeneau index--the calculated ratio between forced expiratory volume in 1. second and forced vital capacity--to values below 5th percentile of the predicted range. The research results indicate for the presence of bronchiolar narrowing--dominant in small-diameter bronchi and bronchioles, with larger structures being unaffected--clearly depicted in spirometry as reduced levels of forced expiratory flow after exhaling 50% and 75% of forced vital capacity. Due to a considerable epidemiological problem, as well as significance of the clinical symptoms manifesting ventilatory disorders in course of chronic heart failure, there should be put emphasis on cardiac injury prevention in individuals from risk groups and the proper treatment of patients already suffering from chronic heart failure.

[Comorbidity of chronic heart failure and chronic obstructive pulmonary disease]. / Wspólwystepowanie przewleklej niewydolnosci serca i przewleklej obturacyjnej choroby pluc.

Cardiovascular diseases most frequently coexist with the chronic obstructive pulmonary disease (COPD). The studies report on over 10 million patients of population suffering both chronic heart failure (CHF) and COPD. Similarity of the clinical symptoms and risk factors found in the medical history of patients with chronic heart failure and chronic obstructive pulmonary disease often causes diagnostic mistakes. At present, medicine has the wide range of diagnostic methods. Among them: well taken medical history, chest radiogram, determination of the serum concentration of natriuretic peptides, spirometry with bronchial reversibility test and many others should be mentioned. The skillfull interpretation of their results guarantee the possibility of more effective treatment. Pulmonary hypertension constitutes the link between the chronic obstructive pulmonary disease and CHF. Although its clinical manifestations are not specific and can be partially masked by the symptoms of COPD, the possibility of its existance should be taken under consideration in every patient with worsening effort toleration or intensification of dysponoea and stable spirometric values with the lack of other causes. It should be emphasized that, apart from the diagnostic leading to diagnosis of those two conditions in one patient, there are also the possible interactions of their concurrent treatment.

[Treatment of non-small cell lung cancer - where we are?]. / Leczenie zaawansowanego niedrobnokomórkowego raka pluca ­w którym miejscu jestesmy?

Lung cancer is the most common cancer in Poland and in the world, unfortunately diagnosed too late, and combined with a very poor prognosis. For most patients with NSCLC the only possibility of treatment is palliative therapy, including chemotherapy and, in the recent years, molecular targeted therapy. In first-line treatment, cisplatine-based "doublets" are most effective, and in second-line, pemetreksed and docetaxel are used. Recently, maintenance chemotherapy has been introduced. Although standard chemotherapy improves the quality of life in the patients with advanced NSCLC, due to significant toxicity such treatment should be applied only in patients in good performance status. The introduction of targeted therapy, based on the molecular profile of the patient has allowed the management to be personalized, which may result in more effective treatment and may be safer for the patient.

Lung cancer in patients under the age of 40 years.

AIM OF THE STUDY: In the paper clinical cases of individuals diagnosed with lung cancer below the age of 40 years have been analyzed. MATERIAL AND METHODS: THE ANALYSIS INCLUDED: sex, age, clinical symptoms found before and at the moment of diagnosis, character of changes visible in radiological imaging, time that passed from the first symptoms to reporting to a doctor and to establishing a diagnosis, type of diagnostic method used in establishing the final diagnosis, histopathologic type of cancer, degree of cancer progression. RESULTS: The results have been compared with a peer group who had been diagnosed 20 years earlier. Currently 7% of patients were diagnosed at the age of 25 or younger, whereas in the previous cohort patients in this age constituted 2%. The predominant pathological type was adenocarcinoma (currently 33%, previously 4%) in contrast to the earlier group in which 57% of patients had small cell lung cancer (57%). The incidence is equally distributed between both sexes, although there is an evident increase in female lung cancer cases. In the majority of patients the clinical presentation is a peripheral mass on chest X-ray. 20% of patients present pleural effusion on diagnosis. Patients reported the following complaints: breathlessness, chest pain, weight loss and fatigue. The majority of cases were diagnosed in advanced stages on the basis of a bronchoscopy acquired specimen. Time course from symptoms to diagnosis tends to be shorter than 20 years ago.

Pulmonary actinomycosis - the great imitator.

Pulmonary localisation represents only 15% of all cases of actinomycosis. The clinical symptoms and radiological changes of this disease are non-specific and sometimes it can be misdiagnosed, usually as tuberculosis, lung cancer or lung abscess. In the reported case, what might look like the lung cancer, finally turned out to be actinomycosis. The interesting case is presented of lung actinomycosis in a 77-year-old farmer, admitted to the Department of Pneumonology, Oncology and Allegology in Lublin due to a massive haemoptysis. CT scan of the chest showed, apart from other changes, the spicular consolidation in the right lung which aroused oncology vigilance. The diagnostic path, which was a real medical challenge, led to the diagnosis of actinomycosis. The process of diagnosis and consequent treatment, which led to the complete regression of clinical and radiological changes, is presented.

'TB or not TB?' Problems of differential diagnosis of cutaneous mycobacteriosis and tuberculosis--A Case Study and interdisciplinary discussion.

The diagnosis of cutaneous tuberculosis poses a serious challenge due to many skin diseases of different etiology resembling the lesions caused by the TB (tuberculosis) bacillus, and difficulties in confirming the disease. The presented case concerns skin lesions in a hobby aquarist stung in the finger of the left hand by a fish. The resulting inflammatory infiltration was to be cutaneous tuberculosis or mycobacteriosis caused by MOTT (Mycobacterium other than tuberculosis). Laboratory, pathomorphologic, genetic and microbiologic tests of samples obtained from the patient, fish and water in the aquarium gave ambiguous results. A multidisciplinary discussion is presented on the difficulties in the differential diagnosis, problems with a clear interpretation of the results of various conducted tests, and possible ways of transmission of the infection, relevant to the described example.

Microbial etiologies in community acquired pneumonia (CAP).

The objective of the study was determination of bacterial etiologic factors, including antibiotic atypical pathogens, of community acquired pneumonia (CAP) in adults and of sensitivity of isolated strains. The examined group comprised 50 patients with clinical and x-ray image of pneumonia. Patients' expectoration sputum was analyzed. Amongst all isolated bacteria, the most frequent were Staphylococcus aureus - 17.9%, Haemophilus parainfluenzae - 12.5% and H. influenzae - 8.9%. Identification of Corynebacterium pseudodiphtheriticum in 8.9% of CAP cases drew our particular attention. Staphylococcus aureus was the least antibiotic sensitive microorganism. In the majority of patients (26: 52%), serologic markers of chlamydial infection were determined. Pneumonia often results from mixed typical and atypical flora infection. High percentage of atypical pathogens in the examined material suggests the necessity to administer intracellularly acting antibiotics.

The role of opportunistic species of Corynebacterium pseudodiphtheriticum in the pathogenesis of CAP (Community Acquired Pneumonia).

The analysis of eight cases of CAP (Community Acquired Pneumonia) was performed. The clinical samples of sputum were obtained from patients at which C. pseudodiphtheriticum strains were isolated in the quantity indicating the etiologic agent of infection. In two patients, K. pneumoniae and S. aureus were isolated simultaneously. They were considered as coexisting in the infection. C. pseudodiphtheriticum strains were highly susceptible to antibiotics. They were resistant to Erythromycin (87.5%), Clindamycin (87.5%), Lincomycin (75.5%), Trimeth./Sulfam.(37.5%), Chloramfenicol (37.5%). In the examined group of patients (five persons), the infection with C. pneumoniae was detected as recently passed or in progress with chronic character as the high level of specific antibodies (IgG or IgG and IgA) was present. That fact could predispose to infection with the opportunistic species of C. pseudodiphtheriticum. Of all the examined patients, three were infected with C. pseudodiphtheriticum as the only species responsible for infection (CAP).

Bacterial exacerbations of chronic obstructive pulmonary disease. The role of lung function in aetiology of exacerbation.

The objective of the study was determination of the most frequent bacterial factors, including Haemophilus parainfluenzae, suspected of causing COPD exacerbation, of the relation between bacterial strains and respiratory system functional status as well as of antibiotic sensitivity of sputum isolated bacteria. The examined group comprised 28 patients treated in the Pulmonary Department of Medical University of Lublin. The subjects fulfilled the criteria of type I COPD bacterial exacerbation. Patient's chest x-ray and spirometry tests were performed. Forty-nine bacterial strains were isolated. In the case of nine patients, more than one strain was isolated. Subjects having H. parainfluenzae in sputum had significantly higher (p<0.05) FVC and FEV1 values comparing to patients with H. influenzae or other Gram-negative bacteria. H. parainfluenzae may be an important etiologic factor of COPD exacerbation. Aetiology of bacterial COPD exacerbation depends on the level of respiratory parameter limitation.