Idiopathic pulmonary hemosiderosis in a 9-year-old girl.

Diffuse alveolar hemorrhage (DAH) is a rare and life-threatening condition characterized by hemoptysis, dyspnoea, alveolar infiltrates on chest radiograph and various degrees of anemia. It may occur either as a primary disease of the lungs or a secondary condition due to cardiac, systemic vascular, collagen or renal diseases. Idiopathic pulmonary hemosiderosis (IPH) is a separate form of DAH of unknown origin, associated in some cases with celiac disease. The estimated incidence of IPH in children is 0.24-1.23 cases per million, with a mortality rate as high as 50%. Only about 500 cases of this disease have been described in medical literature. We present a case of a 9-year-old girl diagnosed with IPH, which was confirmed by the presence of many hemosiderin-laden macrophages in bronchoalveolar lavage obtained by bronchofiberoscopy. Therapy with glucocorticoids was initiated with a partial and transient response. Azathioprine and a gluten-free diet were subsequently introduced. However, the girl still suffers from recurrent episodes of hemoptysis, dyspnea and anemia.

Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency.

BACKGROUND: Cystic fibrosis (CF) is the most common cause of exocrine pancreatic insufficiency in childhood. The aim of the present study is to evaluate the correlation between genotype and exocrine pancreatic insufficiency in CF patients. The special emphasis was put on the analysis of mild CFTR mutations. DESIGN: The study comprised 394 CF patients and 105 healthy subjects (HS). Elastase-1 concentrations were measured in all subjects. RESULTS: Severe pancreatic insufficiency was associated with the presence of two CFTR gene mutations (DeltaF508, N1303K, CFTR dele 2,3 (21kb), G542X, 1717-1G-A, R533X, W1282X, 621GT, 2183AAG, R560T, 2184insA and DeltaI507, G551D, 895T) and mild insufficiency with the presence of at least one mutation (R117H, 3171insC, A155P2, 138insL, 296 + 1G-A, E92GK, E217G, 2789 + 5G-A. 3849 + 1kbC-T/3849 + 1kbC-T) genotype resulted in high elastase-1-values. However, in case of patients with genotype DeltaF508/3849 + 10kbC-T, 1717-1GA/3849 + 10kbC-T as well as with DeltaF508/R334W, both high and low elastase-1 concentrations were found. Low E1 values were found in a patient with DeltaF508/R347P genotype. CONCLUSION: Patients who carry two 'severe' mutations develop pancreatic insufficiency, whereas those who carry at least one 'mild' usually remain pancreatic sufficient. However, the presence of one mild mutation does not exclude pancreatic insufficiency.

[Treatment of a thyroid neoplasm infiltrating the respiratory-digestive tracts]. / Leczenie raka tarczycy naciekajacego droge oddechowo-pokarmowa.

From 1992 to 1999, 58 thyroid gland operations (41 female and 17 male) were performed in ENT Department of the District Hospital in Rzeszów. In 14 (21.4%) cases (9 female and 5 male) thyroid surgery was done for malignant disorders: papillary carcinoma in 11 (79%) patients, follicular carcinoma in 2 patients and medullary carcinoma in 1 patient. There were neck metastases in 9/14 (64.4%) patients. In 3 cases with papillary carcinoma (all with neck metastases) aerodigestive tract was invaded. One patient had neoplasmatic invasion of the larynx and trachea, one patient had invasion of larynx et pharynx and in one patient tumour invaded the esophageal wall. In those patients radical surgery was done: total thyroidectomy with total laryngectomy and radical neck dissection (2 patients) and subtotal thyroidectomy with conservative neck dissection (1 patient). External beam irradiation and radioactive iodine 131 treatment followed surgery. Two patients are still alive 6 years after the treatment free of disease, and 1 patient died of unrelated causes 3 months after the surgery. Symptoms, diagnostic evaluation and treatment of thyroid papillary carcinoma invading the aerodigestive tract are detailed in paper.

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.

[The recurrent laryngeal nerve paralysis as a complication after thyroid surgery]. / Porazenie nerwu krtaniowego wstecznego jako powiklanie operacji tarczycy.

The authors have presented results of otolaryngologic and phoniatric examination of 504 patients after thyroid surgery. 39 patients (7.74%) with recurrent laryngeal nerve paralysis were qualified for thorough phoniatric investigation.

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2,3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2,3(21 kb) homozygotes and a comparison of compound heterozygotes for deltaF508/CFTRdele2,3(21 kb) with pairwise-matched deltaF508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%), Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype XV-2c/KM. 19 "A" and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS 17bTA-IVS 17bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.

[Videolaryngostroboscopy of the larynx in patients after thyroid surgery]. / Obraz wideolaryngostroboskopowy krtani u chorych po operacji tarczycy.

The authors have presented the video of different stroboscopic pictures of the larynx in patients after thyroid gland surgery.

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.

[Frequency of mutations and genotypes of the CFTR gene in cystic fibrosis adults in Poland]. / Czestosc wystepowania mutacji oraz genotypów genu CFTR u doroslych chorych na mukowiscydoze w Polsce.

Based on the Polish Registry of Cystic Fibrosis the analysis of alive CF adults (18 y.a. and more) was performed. Out of 156 Polish CF adults, in 106 (68.0%) identification of the CFTR gene mutations was performed. Relative frequencies of 24 mutations of CFTR gene mutations is 72.2%. Frequencies of the most common mutations are: delta F508 49.06%, 3849 + 10kbCT 8.96%, G542X 1.89%; in Polish CF adults mutations other than delta F508 comprise 23.13% of CF alleles. The most common genotype delta F508/delta F508 occurs with the frequency 22.6%, significantly lower than in CF children; genotype delta F508/3849 + 10kbCT occurs with the frequency 11.3%, and this value is significantly higher than in other age groups.

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.

[First branchial cleft cyst in the parotid gland]. / Torbiel pierwszej szczeliny skrzelowej w sliniance przyusznej.

The authors have described genesis, localization and diagnosis of the first branchial cleft anomaly and the case of the branchial cyst in the deep parotid lobe. Surgical treatment (superficial parotidectomy and cyst extirpation from the superior part of the deep parotid lobe) was effective; one-year follow-up revealed no recurrence of the anomaly.

[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.

[The point of view of otolaryngologist and head and neck surgeon on thyroid diseases]. / Spojrzenie otolaryngologa-chirurga glowy i szyi na choroby tarczycy.

In the paper authors have analyzed 70 cases of different neck, throat and larynx tumors connected with thyroid gland (44 female and 26 male, age 14 to 78), treated surgically in ENT Department of Country Hospital No 1 in Rzesów from 1974 to 1994. The material consists of 35 (50%) patients with neck tumors of thyroid origin, 20 (28,6%) patients with the tumor of thyroid gland or with nodular goitre, 8 (11,4%) patients with advanced cancer of the thyroid with shortness of breath and 7 (10%) patients with ectopy or splitted of thyroid. Based on the histopathological examination it was revealed that the highest group consists of patients with thyroid cancer because all of them live in the south-east part of Poland, which is known to be the area of higher risk of thyroid cancer. Neck tumor was the first symptom of thyroid disease in half of patients from the group mentioned above and the first symptom of 57,5% of patients with malignant neoplasms of thyroid gland were metastases to the neck lymph nodes. Among patients with thyroid malignant neoplasm the male:female ratio was 1:1,35, and the mean age-53,5 years was about 10 years higher than in the rest of patients. In 7 patients with thyroid cancer effective radical surgical treatment was applied. In 5 cases surgical treatment exceeded thyroid gland. It required very careful dissection and identification of recurrent laryngeal nerves and parathyroid glands to avoid iatrogenic damage.

[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.