[Undiagnosed double aortic arch causing respiratory disturbances after 15-years]. / Nierozpoznany przez 15-lat podwójny luk aorty jako przyczyna zaburzen oddychania.

The double aortic arch is a very rare vascular anomaly belonging to a group so called vascular rings. The pressure of abnormal "doubled" aorta on the trachea and esophagus is a cause of sometimes sever symptoms of the respiratory tract such as dyspnea, stridor or cyanosis and recurrent respiratory infections. The authors present a case of a 15 year old boy who had stridor, cough and recurrent respiratory infections. Due to the symptoms the boy was treated for bronchial asthma. Correct diagnosis of double aortic arch was made after the X-ray examination of the chest with barium in the esophagus, followed by bronchoscopy, angiographic and NMR examinations. Surgery treatment was successful.

Effect of genotype on selected clinical features of Polish cystic fibrosis adults.

UNLABELLED: Cystic fibrosis (CF), the most common autosomal recessive disorder of Caucasians, is caused by the mutations in the gene encoding CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein. Until now, approximately 1000 mutations of the CFTR gene have been described. The genotype-phenotype relationships in CF are still not completely understood. This study was undertaken in an attempt to characterise the distribution of CFTR mutations and their effect on selected clinical parameters in a group of Polish CF adults. A total number of 38 adult CF patients (mean age 21.6 +/- 6.8); 18 females & 20 males were enrolled in the study. The CFTR gene identification was conducted with the use of PCR & InnoLipa-CF set. The assessed clinical parameters included: age at diagnosis, age, lung function test, X-ray scored in Brasfield score, weight & height. We found that: (1) the genotypes of the studied population were unevenly distributed (65.8%- genotype deltaF508/M), (2) a high percentage of 3849+10kbC-->T was noted, (3) patients homozygous for the deltaF508 mutation were diagnosed significantly earlier and had a lower body mass index, (4) no differences were observed in the patients' length of life or the progression of lung disease. CONCLUSIONS: 1. In comparison to other populations, Polish adult CF patients display a relatively higher frequency of mild mutations. 2. Late diagnosis of CF in the studied group may be partially caused by a high percentage of CFTR mutations connected with the mild course of the disease that are difficult to identify. 3. Cystic fibrosis should be more commonly taken into consideration in the differential diagnosis in adult patients with milder symptoms.

Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis.

Myocardial necrosis and fibrosis is a rare complication of cystic fibrosis (CF) causing sudden and unexpected death in infancy due to cardiac arrest. Characteristic morphological lesions are recognisable postmortem. The 18 CF patients with this complication had varied clinical features including mild pulmonary involvement, early onset severe pancreatic insufficiency, and profound electrocardiogram (ECG) changes. In this group of patients, 5 were deltaF508 homozygotes, 1 was deltaF508/ N1303K and 1 was a deltaF508/M compound heterozygote. A pair of affected siblings (deltaF508 homozygotes) were fully concordant for myocardial involvement and for the general course of the disease. The co-existence of a genetic predisposition to myocardial lesions resulting most probably from severe cystic fibrosis transmembrane (CFTR) genotypes (such as deltaF508/deltaF508, deltaF508/N1303K) and deficiency of certain trophic factors necessary for metabolism of the myocardium, are postulated to cause myocardial complications in CF leading to circulatory failure and early death.

Bronchoalveolar lavage in children with chronic diffuse parenchymal lung disease.

The aim of the present study was to compare cellular and noncellular components of bronchoalveolar lavage fluid (BAL) in a group of children with a diagnosis of chronic diffuse parenchymal lung disease (cDPLD) and a group of children without parenchymal lung disease undergoing BAL for various clinical indications (control group). We evaluated cellular and non-cellular components (total proteins, albumin, hyaluronic acid, and fibronectin) in BAL fluid from 14 children (7 boys and 7 girls; mean age 9.2 years, range 5 months to 18.4 years) fulfilling the clinical and radiological diagnosis of chronic cDPLD, and in 19 controls without evidence of lung disease. The 14 patients were assigned to two study groups: early-stage cDPLD (6 patients; age range 5 months to 5.2 years; duration of illness, 5-7 months) and long-standing cDPLD (8 patients; age range 9.6-18.4 years; duration of illness, 1.2-17.6 years). Ninety-three percent of the patients with cDPLD had at least two BAL constituents outside normal limits, with high numbers of cells, including all types of alveolar cells, but especially lymphocytes and foamy macrophages. These findings indicate a mixed, predominantly lymphocytic alveolitis. Our patients also had a significant increase in two noncellular BAL components, namely fibronectin and hyaluronic acid. BAL samples from children with long-standing cDPLD contained increased numbers of lymphocytes, whereas samples from children with early-stage cDPLD contained increased percentages and numbers of foamy macrophages and increased concentrations of fibronectin, hyaluronic acid, and albumin. In conclusion, we clearly identified an abnormal BAL profile in our group of cDPLD patients. Moreover, BAL findings differentiated younger cDPLD patients in the early stages of their illness from old patients with long-standing disease.

Alveolar macrophages of children suffering from recurrent infections of respiratory tract are less efficient in eliminating apoptotic neutrophils.

During bacterial infections of the respiratory tract, neutrophils (PMN) are recruited to the lung by various mechanisms, including production of interleukin-8 (IL-8) by alveolar macrophages (AM). After fulfilling their defense function, PMN become apoptotic and have to be disposed of by AM to prevent local damage to the lung tissue by oxygen species and proteolytic enzymes. We measured the levels of IL-8 in the bronchoalveolar lavage (BAL) and the ability of AM to engulf senescent PMN in a groups of children with and without recurrent infections of the respiratory tract. The IL-8 level was measured by enzyme-linked immunosorbent assay (ELISA). The phagocytosis of apoptotic neutrophils was evaluated microscopically by the presence of myeloperoxidase positive material in AM before and after 1 h of incubation with senescent PMN. The data show that children suffering from recurrent infections have increased IL-8 in BAL and that their AM have a lower ability to engulf apoptotic PMN in vitro. Furthermore, the proportion of annexin V-binding cells was higher in BAL of children with recurrent infections of the respiratory tract than in normal controls.

A cystic fibrosis patient homozygous for 621 + 1G-->T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux.

A cystic fibrosis patient homozygous for 621 + 1G-->T mutation of the CFTR gene has been identified during a molecular screening program of Polish CF families. The patient is currently a 21-year-old female with severe pulmonary involvement, mild pancreatic insufficiency and complicated gastroesophageal reflux.

[Difficulties in bronchoscopic diagnosis of the foreign bodies located in lower respiratory tract in children]. / Trudnosci w bronchoskopowej diagnostyce cial obcych w dolnych drogach oddechowych u dzieci.

Diagnostic difficulties and causes of incorrect interpretation of bronchoscopic examination in the cases of foreign body (f.b.) aspiration in children are presented. In 16 out of 280 children (5.7%) treated in our Institute due to f.b. aspiration in the years 1979-1993, f.b. were not diagnosed (incorrectly excluded or not confirmed) although bronchoscopic examination have been performed. Recurrent or persistent symptoms of bronchitis or bronchopneumonia were indications for performing diagnostic bronchoscopy in our hospital. The causes of diagnostic difficulties during the first bronchoscopy were as follow: 5-most likely inflammation, 2-peripheral deposition of foreign body, 2-only tracheoscopy was performed. In 7 cases the lack of necessary technical competence for performing bronchoscopy was probably the cause. Foreign bodies were deposited in 2 cases in the trachea, in 4 cases in the right bronchial tree and in 10 cases in the left bronchial tree. One child with diagnostic problems is describe in details. We have found that: -for exclusion of f.b. aspiration detailed examination of segmental or even subsegmental bronchi is necessary, -diagnosis and treatment of f.b. aspiration requires good bronchological knowledge and experience, -persistent symptoms of bronchial patency disturbances should be the indication to the control bronchoscopy.

[The usefulness of the conduction sweat test in diagnosis of cystic fibrosis]. / Przydatnosc konduktometrycznego testu potowego w diagnostyce mukowiscydozy.

In this paper we present a new test for evaluating the conductivity of sweat--an alternative to the classic Gibson-Cooke test used in diagnosis cystic fibrosis. Comparison of the results of 45 subjects (26 with cystic fibrosis and 19 with other diseases) showed a significant correlation between the two tests (r = 0.923, p < 0.001). The conductometric Wescor test should be included in diagnostic procedures for cystic fibrosis.

[Broncho-pulmonary complications due to aspiration of foreign bodies by children]. / Powiklania oskrzelowo-plucne w wyniku aspiracji cial obcych u dzieci.

The paper describes 239 children with bronchopulmonary disease due to foreign body (f.b.) aspiration treated in our center during between 1980-1992. Twenty-eight percent of the cases had been referred to hospital without any suspicion of f.b. aspiration. Almost half of the children (49.7%) were below the age of 2 years. Boys were affected more often (61.5%) than girls. In 61.1% the cases the f.b. had been aspirated into the right bronchial tree. Pieces of nuts were the most common f.b. - 35.1%. The most common chest X-ray symptoms were disturbances of bronchial patency (74.1%). Non-metalic, but potential shadowing f.b. like bones and teeth gave the clear signs only in 17.6% of the cases. After f.b. aspiration chronic irreversible lesions such as bronchiectasis and lung fibrosis were observed in 18.8% of the children. The prevalence of bronchiectasis was proportional to the duration of deposition. If the f.b. had been removed within the first month after aspiration we observed no complications. After aspiration of ears of grain, bronchiectasis was present in 80% of cases. Aspiration of f.b. into the left bronchial tree very often caused ventilation disturbations. Such cases were diagnosed and treated earlier than cases of right side f.b. aspirations. As a consequence bronchiectasis in the left lung was observed 2.7 less frequently.

[Scar changes in the bronchus caused by a foreign body]. / Zmiany bliznowate oskrzela posredniego spowodowane cialem obcym.

Long lasting recurrent pneumonia in 13-year-old girl was been described. The main cause was the foreign body (pawn of plastic) covered in intermediate bronchus. Bronchoscopy revealed scars in type of "bridges" narrowing intermediate bronchus. The foreign body and the scar changes were removed.

[Bronchofibroscopy in removal of foreign bodies from the bronchi in children]. / Bronchofibroskopia w usuwaniu cial obcych z oskrzeli u dzieci.

In most cases of bronchial foreign bodies removal in children rigid bronchoscopy is used. In this study three cases of bronchial foreign body removal by bronchofiberoscopy were presented. In some cases that method could be necessary for diagnosing and removal of the foreign body.

Studies of bronchial secretion. The influence of inflammatory response and bacterial infection.

Bronchial secretions obtained during bronchoscopic examination of 60 children suffering from respiratory tract infections were studied for the concentration of immunoglobulins, anti-proteolytic factors, lactoferrin, and lysozyme. Eleven children having bronchial asthma without a history of chronic or recurrent infections of the respiratory tract were designated as a control. The results were analysed in relation to clinical diagnosis (chronic bronchitis, bronchitis, bronchiectasis) or to the local status of bronchial mucosa at the time of bronchoscopy (no inflammation, inflammation, inflammation with documented bacterial infection). The statistical analysis of the results revealed a decrease of lactoferrin and locally produced IgA in the group of children suffering from bronchitis and chronic bronchitis. Samples infected with Haemophilus species had significantly higher concentration of lactoferrin than any other group. Similarly, albumin in this group was higher than in the other group except that other bacteria were present. Samples infected with Haemophilus also had increased concentrations of S-IgA, IgG, and anti-proteolytic factors when compared with the group without local inflammation.

[Failure of static pulmonary volume measurements in mucoviscidosis]. / Echec de la mesure des volumes statiques pulmonaires au cours de la mucoviscidose.

With worsening of bronchial obstruction during the course of cystic fibrosis the functional residual capacity (CRF) measured by plethysmography increases progressively. The difference between values of CRF obtained by plethysmography or by Helium dilution increases even more. The difference between the two methods (for CRF) is supposed to show the volume of "trapped"' gas. A similar outcome, although less marked, is observed after physiotherapy. The extent of pulmonary distention and gas trapping is markedly overestimated by plethysmographic measurements, when one considers the anatomical and radiological anomalies. It was recently suggested that the rise in compliance of the walls of the extra-thoracic airways in the presence of bronchial obstruction may lead to an over-estimation of the pulmonary volumes measured by plethysmography. This may be the case during the course of mucoviscidosis, when repeated infections lead to a destruction of the bronchial walls. However, this anomaly does not explain this rise in CRF after mucolytic treatment and postural drainage. The CRF seems to reflect not only the volume of trapper gas in the lung, but equally the failure to equalize the interior pressures of the obstructed airways. In order to appreciate the effects of respiratory physiotherapy, different methods of measuring pulmonary volumes are necessary but the interpretation of the results take account of the complex meterology.

[Ceruloplasmin, haptoglobin and transferrin levels in bronchial secretions of children with chronic respiratory tract diseases]. / Poziom ceruloplazminy, haptoglobiny i transferryny w wydzielinach oskrzelowych u dzieci z przewleklymi chorobami dróg oddechowych.

Bronchial secretions from 191 children with various respiratory diseases and from 7 healthy controls were tested for concentration of ceruloplasmin, haptoglobin and transferrin. Highest protein levels were observed in children with bronchiectasis and cystic fibrosis. The protein levels were correlated with the intensity of the inflammatory process.