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BRCA1 is a pivotal tumor suppressor. Its dysfunction is known to play a role in different tumors. Among others, BRCA1 germline mutations account for higher risk and more aggressive course of prostate cancer (PCa). In addition, somatic BRCA1 gene loss was demonstrated to be a signature of PCa dissemination to lymph nodes and peripheral blood, and indicate worse clinical outcome. In order to substantiate the data for BRCA1 gene loss in PCa and reveal its phenotypical background, BRCA1 gene status was assessed in a large cohort of PCa patients and compared to different molecular factors. BRCA1 gene dosage was assessed in 2398 tumor samples from 1,199 PCa patients using fluorescent in situ hybridization. It was compared to clinico-pathological parameters, patients' outcome as well as selected proteins (Ki-67, apoptosis marker, cytokeratins, vimentin, E- and N-cadherin, ALDH1 and EGFR) examined immunohistochemically. BRCA1 losses were found in 10%, whereas gains appeared in 7% of 603 informative PCa patients. BRCA1 losses correlated to higher T stage (p = 0.027), Gleason score (p = 0.039), shorter time to biochemical recurrence in patients with Gleason score > 7 independently of other factors (multivariate analysis, p = 0.005) as well as expression of proteins regulating stemness and epithelial-mesenchymal transition, that is, ALDH1 (p = 0.021) and EGFR (p = 0.011), respectively. BRCA1 gains correlated to shorter time to metastasis (p = 0.012) and expression of ALDH1 (p = 0.014). These results support the assumption that BRCA1 gene losses contribute to a progressive and stem cell-like phenotype of PCa. Furthermore, they reveal that also BRCA1 gain conceivably representing loss-of-function might mark more invasive tumors., (© 2018 UICC.)

Background: Bitter taste receptors (T2Rs), especially T2R38s appear as innovative regulators of innate immunity in the respiratory system. The single nucleotide polymorphisms (SNPs) in TAS2R38 gene may contribute to individual differences in susceptibility to respiratory infections especially chronic rhinosinusitis (CRS). TAS2R38 genotypes distribution varies by geographic region, race and ethnicity. The aim of the preliminary study was the identification of SNPs in TAS2R38 encoding genes in Polish patients with CRS and finding potential correlation with CRS phenotypes., Material and Methods: The preliminary study contained 20 CRS patients undergoing functional endoscopic sinus surgery (FESS). Fresh sinus mucosa (SM) was obtained during FESS in CRS patients. Patients were genotyped for TAS2R38 using Sanger method and the genotype occurrences of the clinically recalcitrant CRS cohort was evaluated. Analysis of TAS2R38 expression in SM of CRS patients was performed using immunohistochemistry (IHC)., Results: T2R38 was highly expressed in SM of CRS patients. Patients with CRS demonstrated both common genotypes PAV, AVI. The heterozygotes frequency (AVI/PAV) was the highest. The protective genotype (PAV/PAV) was noticed in the lowest frequency and connected with lower average value of CT score compare to AVI/AVI genotypes (p=0.01)., Conclusions: The work presented in this study provides the hypothesis that airway bitter T2Rs are an innovative sphere of human respiratory innate protection. TAS2R38 polymorphism may influence the susceptibility to CRS. The AVI haplotypes are an independent risk factors for CRS. Additionally, the bitter taste receptors and related signalling pathways might create an unique group of therapeutic targets to treat CRS.

Introduction: Atrioventricular septal defect (AVSD) is one of the most frequent congenital heart diseases, making up 7.5% of all developmental anomalies of circulatory system., Material and Methods: Sixty-seven children with the diagnosis of atrioventricular septal defect were hospitalised at the Department of Paediatric Cardiology, Medical University in Gdańsk, in 1993-1998. Patients' age ranged at diagnosis between 3 days and 17 years (mean age 35 months). The analysed group included 20 children with partial atrioventricular septal defect (group I) and 47 children with complete AVSD (group II). The diagnosis was based on anamnesis, physical examination, ECG, chest x-ray and echocardiography. Cardiac catheterisation and angiocardiography were performed in 28 children., Results: On the basis of the results obtained, 6 children with Down syndrome were disqualified from the surgery due to persistent pulmonary hypertension. Fifty-nine children--including all the patients from group I (20) and 39 children from group II were qualified for operations in extracorporeal circulation. Two children from group II required ventilation with the mixture containing NO in the early post-operative period. There were 8 deaths (12%). Three children from group II died preoperatively due to severe generalised infection in early infancy and 5 infants from group II died immediately after operation. No deaths occurred in group I. In one case of a 4 year-old boy with partial atrioventricular septal defect, atrioventricular block developed immediately after surgery and required constant stimulation of the heart. In two children it was necessary to replace mitral valve (2 and 5 years after ASD I surgery)., Conclusions: 1. Children with Down syndrome require screening echocardiography. 2. Non-invasive diagnostic examinations of atrioventricular septal defect are usually sufficient for the full assessment of the defect and the choice of further treatment. 3. The correction of the congenital heart disease such as atrioventricular septal defect should be completed in the first 6 months of life, particularly in children with complete AVSD.

We report on a case of Prader-Willi syndrome (PWS) with a true reciprocal unbalanced translocation, 45,XX,-15,der(11)t(11;15)pat. The proposita was diagnosed clinically as having severe PWS. Molecular studies revealed loss of the paternal methylation pattern at locus D15S63 and a deletion encompassing the loci from at least D15S10 to D15S97 of paternal chromosome 15. FISH studies confirmed the deletion of 15q11q13 region and the presence of two telomeres on all chromosomes. The proposita's father, the father's sister and their mother are all carriers of the same balanced translocation t(11;15)(q25;q13). By genomic imprinting we would expect that if the father's sister were to give birth to a child with the same unbalanced translocation as the proband, it would be affected by Angelman syndrome. To date, a similar familial unbalanced translocation due to loss of the small chromosome15 derivative has not been described.

Twenty nine patients with myocardial infarction (MI) of different etiology were analysed. The diagnosis was based on routine clinical examination with ECG predominance. In certain cases cardiac catheterisation with cineangiography and scintigraphy were performed. Myocardial infarction the most often was observed in Bland-White-Garland syndrome (15 cases). In 5 cases MI was found in heart muscle disease, in 3 cases in critical aortic stenosis, and in singular cases in progeria syndrome, bacterial endocarditis and after surgical procedure. In 2 older children the etiology of MI was difficult to establish. Clinical picture of MI in children is different in comparison with adult person. Chest pain, typical for MI in adults, is difficult to diagnose particularly in infants. Localisation of MI is also different, predominant is anteroseptal, lateral, subendocardial and papillary muscle infarction. Relative small number of MI in children is due to difficulty in interpretation of clinical picture and to low popularity of ECG examination in this group of age.

Aims and Background: The purpose of our research was to investigate the relations between the levels of epidermal growth factor receptor and estrogen and progesterone receptors in breast cancers of premenopausal and postmenopausal Polish women., Methods: Cell membrane levels of epidermal growth factor receptor (EGF-R), and cytosol (c) estrogen (ER) and progesterone (PR) receptors were determined in 221 specimens of primary breast cancers. ERc and PRc were assayed using the dextran-coated charcoal procedure, and EGF-R were assayed by the radioligand method of specific saturation of the crude membrane fraction with 125I-EGF RESULTS: A statistically significant inverse correlation was found in all tumors between the concentrations of EGF-R and ERc, whereas for PRc significance of this correlation was not fully confirmed. ERc concentrations in tumors were positively correlated with age of patients, whereas EGF-R and PRc were not. In all, in premenopausal, and in postmenopausal EGF-R-positive tumors (> or = 10 fmol/mg of membrane protein), mean concentrations of ERc did not differ significantly. These groups of tumors seem to be homogeneous with respect to ERc concentrations. In EGF-R-negative (< 10 fmol/mg of membrane protein) postmenopausal tumors, the mean ERc concentration was significantly higher than in premenopausal tumors, hence these groups of tumors appear to be heterogeneous with regard to ERc contents:, Conclusions: The present findings may have significance in differentiation of postmenopausal breast cancer.

The highest mortality rate among 75 newborns and infants observed has been noted in children with hypoplastic left heart syndrome, transposition of the great arteries, double outlet of the right ventricle and single ventricle. In the newborn period the mortality rate was 96%, and later on it decreased. Cardiac failure complicated by pneumonia was the most frequent cause of the infant's death (47 cases), then anoxic spells and sudden death (12 cases), diagnostic and surgical procedures (10 cases). The causes of death of six children were apparently not related to the heart disease.

Observations have been carried out on 116 neonates and infants with congenital heart malformations, and cardiomyopathies; 75 of them died. The initial diagnosis was made at Maternity Hospitals or at Infants' Wards, mainly in county hospitals of the province of Gdańsk. Afterwards these children were sent to the pediatric cardiology ward of the Pediatric Institute in Gdańsk, where the diagnoses were verified. Catheterisation and angiocardiography were performed in 29 children; 18 patients were treated surgically due to operable heart malformations. Rashkind's balloon atrioseptostomy was performed in three infants. The diagnosis based on physical ECG and X-rays was correct in only 42% of cases, and was most accurate in children with transposition of the great arteries, syndrome of Fallot, coarctation of the aorta and ventricular septal defects. The greatest difficulties were caused by the cases with hypoplastic left heart syndrome, double outlet of the right ventricle, single ventricle. They suggested that the initial clinical diagnosis should be confirmed by hemodynamic data and angiocardiography.