Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland

Polish CF patients were screened extensively for mutations in the CFTR gene. Screening data demonstrated a high heterogeneity of CFTR mutations in the Polish population. Total 30 different mutations were characterised in 24 exons or introns of the gene. Among them, six mutations have been reported for the first time and submitted to the CF Genetic Analysis Consortium. In addition, 15 different polymorphisms were found, including three new ones. The screening resulted in 9% increase of the detection rate of CFTR alleles in the tested population. Frequencies of two of the identified mutations (CFTRdele2,3 and 2184insA) are relatively high (2.6% and 1%, respectively) and justify their inclusion into routinely screened mutations in genetic testing of Polish CF population.     

Databases as policy instruments. About extending networks as evidence-based policy

Background  

This article seeks to identify the role of databases in health policy. Access to information and communication technologies has changed traditional relationships between the state and professionals, creating new systems of surveillance and control. As a result, databases may have a profound effect on controlling clinical practice.     

An under-recognised malposition of neonatal long lines

We report two cases of malposition of percutaneous central venous catheters into the left ascending lumbar vein. The level of awareness amongst clinicians of this potentially fatal complication appears to be low. Conclusion:The recognition of unusual patterns of contrast medium dispersal is important in the diagnosis of catheter malposition.     

Clinical factors influencing the complications and survival of liver transplantation in Hungary

Clinical factors in association with the complications and the outcome of liver transplantation. The Hungarian experience. Demography, morbidity, perioperative characteristics and mortality. INTRODUCTION: The authors summarize the demographic, morbidity and mortality characteristics of the Hungarian Liver Transplant Program. They evaluate the changes and development, that has taken place with regard to indications, recipient population and characteristics, operation technique, and peroperative patient management. METHOD: In order to present the development, data are compared between two time periods (before and after 1999). Categorical variables are evaluated by chi-square test, continuous ones are with Levene Test (for homogeneity of means), Student T test and Mann-Whitney U-test. Cumulative survivals are computed with Kaplan-Meyer log rank analysis. Variables showed statistical significance on survival bz univariate analysis were then put into multivariate Cox-regression analysis. ROC analysis was performed to set the cut off point of certain continuous parameters in relation to survival. RESULTS: The results are summarized on Tables and statistical Figures. Regarding patients mortality in the beginning the main factors with impact were respectively technical ones like arterial thrombosis, while in the last 4 years perioperative fluid management and transfusion policy became important. Both sepsis and postoperative renal insufficiency remained key factors for mortality, however their incidence diminished dramatically. DISCUSSION: The overall outcome of the retrospective analysis is, that the program has been developed to European standards with respect to its volume, technical capabilities and results.     

Synchronous carcinoma of the esophagus and the thyroid gland

INTRODUCTION: Incidence of synchronous or metachronous carcinomas with primer esophageal malignancy together can be estimated at 17% and these disorders manifest mostly in the stomach. CASE REPORT: The authors report the medical history of a 55-year-old man whose symptomatic middle third esophageal carcinoma was cured with esophagectomy and two field lymphadenectomy. Stomach was used for substitution. Histological examination verified pT2N1M0 tumor and metastasis of papillary thyroid carcinoma from the lymph node removed from near to the right recurrent nerve. Five weeks after the esophageal resection a total thyroidectomy and a central lymph node dissection was performed. The synchronous thyroid carcinoma was located into the inferior pole of right lobe. Currently the patient is without symptoms and plaints, the complex oncological treatment is in progress. DISCUSSION: The incidence of a synchronous carcinoma of the esophagus and the thyroid gland is an extreme rarity. The basic difference connected to the tumorbiological behaviors of these two malignancies is found in the growing tendency and in the direction of lymphogen spreading. The common point is the recurrent nerve lymphatic chains in the thoracic dome. This is the reason that after the R0 resection of a middle third esophageal carcinoma the histological evaluation of a lymph node obtained from right recurrent nerve lymphatic chain shed light on the asymptomatic synchronous thyroid cancer. CONCLUSION: In cases of operable esophageal carcinomas located into its middle or lower third the importance of a correct lymphadenectomy could not be emphasize enough. During the routine preoperative examinations it would be necessary to make cervical ultrasonography too.     

Bronchiolitis obliterans syndrome in lung transplant recipients

Bronchiolitis obliterans syndrome in lung transplant recipients. The leading cause of late graft loss after lung transplantation is bronchiolitis obliterans syndrome. The process is a manifestation of chronic rejection, and is characterized by an excessive fibroproliferation in the small airways, leading progressively to luminal obliteration and graft injury. Both alloantigen-dependent (acute rejection, histocompatibility) and alloantigen-independent (ischaemia-reperfusion injury, cytomegalovirus infection, gastroesophageal reflux disease) risk factors may contribute to the development of the disease. Early in the process, damage to the airway epithelium occurs, which then triggers a massive influx of alloreactive T-cells into the graft tissue. Activated T-cells release a wide range of cytokines and growth factors, which in turn are capable of stimulating cellular proliferation and matrix protein synthesis in fibroblasts as well as in airway smooth muscle cells. Clinically, a decline in lung functions together with nonspecific symptoms can usually be observed in these patients, while later in the disease course recurrent respiratory tract infections are more common. Up till now, no effective therapy is available for bronchiolitis obliterans syndrome, however, certain immunosuppressive regimens may slow down the progression of the disease.     

Hybridization and their application in the DNA array technology

Hybridization and their application in the DNA array technology. DNA hybridization arrays measure simultaneously the expression of several genes. First, a known DNA sequence (probe) is fixed on a firm basis. Then the complementer sequence (target sequence) is linked to it during the hybridization process. The target sequence extracted from biological samples is fluorescently, enzimatically or radioactively labeled before detection. Higher expression results in higher signal in the detection system. Unlabeled DNA strands can also be detected, as the electronic and optical characteristics of the DNA is altered after complementer hybridization. In this review we summarize the basics of hybridisation and its newest application area in the DNA array systems.     

In vitro examination of the influence of lipase and amylase on dog's pancreas tissue incubated with endotoxins, phospholipase A2 or cytokines

Proinflammatory cytokines are elevated during acute pancreatitis. The endotoxins and Phospholipase A2 (PLA2) also have important role in acute pancreatitis. The aim of this study was to determine, what factors are responsible for the tissue damage in acute pancreatitis. The examinations were performed on fixed and frozen sections of healthy dog's pancreas tissue. Direct effects of endotoxins, PLA2, and proinflammatory cytokines together with pancreas enzymes were examined on pancreatic tissue. Pancreas enzymes themselves did not cause any change in the structure of pancreas. The common influence of endotoxins, PLA2 and pancreas enzymes was examined, and finally the effect of proinflammatory cytokines and enzymes was examined on pancreas tissue. Our results show, that besides enzymes many other factors are necessary to inflict tissue damage in acute pancreatitis, but for necrosis the presence of TNF alfa is a must.