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.

[Undiagnosed double aortic arch causing respiratory disturbances after 15-years].

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.

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.

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.

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.

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].

Diagnostic difficulties and causes of incorrect interpretation of bronchoscopic examination in the cases of foreign body (f.b.) aspiration in children are presented.

[The usefulness of the conduction sweat test in diagnosis of cystic fibrosis].

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.

[Broncho-pulmonary complications due to aspiration of foreign bodies by children].

The paper describes 239 children with bronchopulmonary disease due to foreign body (f.b.) aspiration treated in our center during between 1980-1992.

[Scar changes in the bronchus caused by a foreign body].

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.

[Bronchofibroscopy in removal of foreign bodies from the bronchi in children].

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).

[Ceruloplasmin, haptoglobin and transferrin levels in bronchial secretions of children with chronic respiratory tract diseases].

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.

[Failure of static pulmonary volume measurements in mucoviscidosis].

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.

Proteins in bronchial secretion of children with chronic pulmonary diseases. II. Relation to bronchoscopic and bronchographic examination.

The concentration of immunoglobulins, lactoferrin and lysozyme we compared in bronchial secretions obtained from children with various chronic lung diseases. The IgG, lactoferrin and lysozyme, but not secretory IgA, concentrations were shown to be increased during chronic inflammatory response.

Proteins in bronchial secretion of children with chronic pulmonary diseases. I. Relation to clinical diagnosis.

Bronchial secretions from 207 children suffering from various pulmonary diseases and from 15 healthy controls were tested concentration of IgA, IgG, lactoferrin and lysozyme. The results obtained suggest that in many cases of chronic lung diseases in children the levels of lactoferrin and immunoglobulins, especially secretory IgA, are very low. In severe infections (cystic fibrosis, bronchiectases) significant increase of IgG concentration was observed.