Gene/Protein Disease Symptom Drug Enzyme Compound
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This is the first in Poland report on fully developed HELLP syndrome complicating severe EPH gestosis. The diagnosis and treatment of the syndrome are discussed in the light of a literature survey.
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PMID:[Severe EPH gestosis complicated by development of complete HELLP syndrome]. 144 50

157 hospitals from Poland with average number of deliveries 294,457 per year answered the questionnaires. In this paper some selected points of the answers are presented; on this basis the treatment of EPH gestosis in average hospitals (a.h.) is compared with the treatment in highly specialized, leading hospitals (l.h.). Similarly as in l.h. the fluid intake in 44% a.h. is not limited but the exact volume of fluid is rarely settled. Similarly to l.h. the salt intake in majority of a.h. is not limited, hydrazinophtalazin, magnesium, diazepam, dextrane and mannitol are widely used. In contrast to l.h. reserpin is still used in 53% of a.h., long-acting barbiturates in 17%, saluretics in 52%, but methyldopa and betablockers rarely (16% and 13%).
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PMID:[Differences in the treatment of EPH gestosis between leading clinics and average hospitals]. 272 80

The value of rose bengal plate test (RBPT) in diagnosing brucellosis in cattle was determined by statistical comparison of its results with the results of the tests used in Poland, i.e. SAT, CFT, AGT and MET. RBPT was made in 2 variants. In routine, highly specific test, equal parts of antigen and serum--0.03 cm3, were used whereas in the experimental one the sensitivity was increased using half the amount of antigen--0.015 cm3 (RBPT0.015). Two batches of cattle serum were examined. In group I 249 cattle serums from the herds infected with brucellosis were examined. In group 2 there were 1269 cattle serums from the herds free of brucellosis, positive in SAT but negative in CFT. The reactions in SAT were considered as not specific if the reaction in the additional examination in CFT, AGT and MET was negative. On the basis of the results in group I, mainly the sensitivity of RBPT was determined compared with the total evaluation of the results of SAT/CFT. In RBPT0.015 the consistency of the results was 99.4% but in RBPT0.03 only 87.9%. Detectability of reactions, i.e. the percentage of positive results in infected herds was calculated. The results were as follows: AGT--89.6%, RBPT0.015--74.3%, SAT/CFT--66.3%, CFT--65.9%, RBPT0.03--59.8%, SAT--55.4%. In the group 2 mainly specificity of RBPT in relation to CFT, AGT and MET was determined. In RBPT0.03 it achieved 97.1% whereas in RBPT0.015--83.1%. The application of RBPT0.03 in the group 2 eliminated 95.8% of the not specific reactions in SAT and that of RBPT0.015--77.9%, respectively. The author suggests to use RBPT0.03 as a screening method instead of SAT and CFT to diagnose cattle brucellosis in the areas free from the disease. On the other hand, RBPT0.015, as more sensitive test is suggested to be used in the herds suspected of brucellosis to identify quickly infected animals.
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PMID:[Diagnostic value of the rose bengal plate test in the diagnosis of bovine brucellosis]. 311 18

Serological activity of swine IgM and IgG against Brucella abortus in RBPT was determined in relation to four other reactions used in Poland for diagnosing brucellosis standard agglutination test, complement fixation test, antiglobulin test, 2-mercaptoethanol test). Isolation of IgG was performed by the method of filtration on Sephadex gel G-200 of swine sera raised against Brucella abortus S19 by double immunization with suspension of killed bacteria. The presence of a certain Ig class in the fractions thus obtained was confirmed by immunoelectrophoresis and immunodiffusion tests. RBPT revealed the reaction of antibodies of IgM and IgG class which proves usability of this reaction diagnosis both early (IgM) and chronic (IgG) infection with brucellosis. Both classes of antibodies mentioned above were active also in SAT and CTT. Also the results obtained in AGT and MET were found interesting. In one of the sera, the absence of incomplete antibodies was observed, whereas positive reaction in antiglobulin test was found in its fractions containing IgG. This phenomenon was determined as concealment of incomplete agglutinins through higher level of complete antibodies in normal serum. In swine (the results were different from those obtained for cattle), apart from incomplete antibodies in IgG class, the presence of these agglutinins in IgM class was noted. On the other hand, the results obtained in MET proved that IgM antibodies of swine were not totally reduced when affected by 2-mercaptoethanol.
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PMID:[Activity of porcine anti-Brucella abortus immunoglobulins in the acid plate agglutination test (APAT)]. 313 34

Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN IV), is caused by mutations of the NTRK1 gene coding for the neurotrophic tyrosine kinase receptor type 1. We report the results of the NTRK1 sequence analysis in a CIPA family from Poland. We found that the patient was in a state of compound heterozygosity. He had one mutant allele with a novel G>A substitution in the conserved splice junction donor site affecting the first base pair of intron 5 (IVS5+1G>A). In the other allele he had a cluster of four single nucleotide substitutions in exon 15: an 1876C>T change (relative to the transcription start site) and three G>T changes (1904G>T, 1909G>T and 1915G>T). All of these mutations change the sense of the codons: H598Y, G607V, E609X and V611L, respectively. Mutations E609X and V611L are novel and unique to the patient family and at least one of them, which creates a premature stop codon in position 609, should have a deleterious effect on the gene function. The other two substitutions H598Y and G607V are most likely rare polymorphisms, which are in linkage disequilibrium. They occur together with an estimated allele frequency of about 6%. Our report increases the spectrum of NTRK1 mutations in CIPA patients and describes an unusual case of a cluster of four mutations located close to each other in one exon.
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PMID:Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15. 1113 46

Recurrent thrombo-embolic episodes and pregnancy loss, thrombocytopenia and the presence of antiphospholipid antibodies, first described in 1983 by Hughes and defined by Harris in 1987, are characteristic of the primary antiphospholipid syndrome (APS). APS is the cause of obstetrical problems in the form of recurrent miscarriages, intrauterine fetal death or growth retardation, and EPH gestosis. Clinical symptoms described above are probably mediated by antiphospholipid antibodies which interact with endothelial and trophoblastic cells, blood platelets, embryonic tissue cells, as well as with coagulation factors and proteins involved in the coagulation cascade or in antibody binding. Management of APS includes antiaggregation, anticoagulation, immunosuppression, and intravenous administration of gamma globulins. Successful treatment is not always the case and search for more efficient therapies continues. The importance of animal experiments led to the design at the Department of Pathology of Pregnancy and Labour of an APS model in pregnant and nonpregnant rabbits. As Turowski et al. have confirmed the immunomodulating action of TFX in rabbits, it seemed justified to examine the properties of this preparation in pregnant rabbits with experimentally induced APS. The material consisted of 30 pregnant New Zealand rabbits, divided into the following groups: I--10 pregnant rabbits (and 63 fetuses) treated intradermally twice weekly since the 10th day of pregnancy with cardiolipin together with adjuvant; I-K--5 pregnant rabbits (and 17 fetuses) treated with cardiolipin and adjuvant in the same manner as group I and additionally with intramuscular injections of 0.9% NaCl on the 20th, 21st, and 22nd day; I-T--10 pregnant rabbits (and 66 fetuses) treated with cardiolipin with adjuvant in the same manner as group I and additionally with intramuscular injections of 10 mg/day of TFX (Jelfa, Poland) on the 20th, 21st, and 22nd day of pregnancy; K--5 pregnant rabbits (and 27 fetuses) treated with injections of 0.9% NaCl twice weekly. Blood samples for laboratory analysis were collected by cardiac puncture before immunization (sample I) and on the day of caesarean section (sample II). Platelet counts and APTT tests were done. Numbers of live and dead newborns, resorbed fetuses, body mass, newborn viability and survival rates were recorded. TFX administered to pregnant rabbits with experimentally induced antiphospholipid syndrome increased the number of live newborns, reduced the incidence of fetal resorption, increased the viability and survival rate of newborn rabbits. The beneficial effect of TFX on APTT and platelet count was revealed, such that these parameters remained within the normal range despite immunization. Morphological changes observed in the placenta were not specific.
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PMID:[Effect of TFX preparation on the course of pregnancy in rabbits with experimental antiphospholipid syndrome]. 1251 8

The frequency of CA allele combinations was assessed in healthy women from Poland and compared to previously published polymorphism data of individuals from Germany and a Caucasian reference group. There were close similarities between these three geographically and ethnically similar populations. By contrast, the distribution of these alleles in European and Asian (Japan) populations proved to be different. There might therefore be major ethnic differences in allelic frequencies of EGFR intron 1 polymorphism. Our results provide new data on EGFR microsatellite instability and may contribute to the understanding of EGFR gene expression regulation. The clinical relevance of these findings warrants further evaluation.
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PMID:An epidermal growth factor receptor intron 1 polymorphism in healthy women in Poland. 1624 Aug 46

The accident that occurred at the Chernobyl Nuclear Power Plant in 1986, released large quantities of radionuclides--among them radioiodine--into the atmosphere, thereby raising public concerns about its influence on thyroid structure and function, especially the development of malignancy. There were even reports about 700 deaths due to thyroid carcinoma in Russian Federation, Ukraine and Belarus, resulting from the accident. In this review we discussed the incidence of thyroid cancer in different parts of the world, especially in heavily contaminated countries, as Ukraine and Belarus, and the possible link between radioisotope activity in the thyroid and the development of malignancy. The study carried out in Minsk showed 40-fold increase of the incidence of thyroid cancer in the years 1986-1994, in comparison to the period 1977-1985. An increase of the incidence of thyroid cancer has generally been observed in many countries after the Chernobyl accident. We focused on the factors that may have an influence on this phenomenon, especially diagnostic tests, health care, social and environmental factors, like iodine level in water and soil. The results of molecular biology studies, e.g. RET translocation in carcinoma type RET/PTC1 in elderly and RET/PTC3 in children, and expression Ax1 and Gas6 in children were reviewed as well. We also mentioned other thyroid diseases, like nodular goitre, cysts, the disturbance of thyroid function and autoimmunity, possibly linked to the radiation after Chernobyl accident. Data obtained from the regions near Chernobyl showed no increased risk of other types of malignancy (leukaemia, Hodgkin's and non Hodgkin's lymphoma) in 1986-1996. In this article the epidemiology of thyroid diseases in Poland was also reviewed.
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PMID:[The effect of Chernobyl accident on the development of malignant diseases--situation after 20 years]. 1683 89

The aim of the study was to investigate a relation between p53 and HER2/neu expression in resected lung tumors and the response of those tumors to neoadjuvant chemotherapy. The study population included 67 consecutive patients with non-small cell lung cancer (NSCLC) in stage II or III who were operated on at the Institute of Tuberculosis, Warsaw, Poland, between 20 April 2001 and 10 March 2003. All patients received two cycles of chemotherapy consisting of cisplatin and vinorelbine prior to the operation. The response to therapy was assessed as complete response (CR), partial response (PR), stable disease (SD) or progressive disease (PD), on the basis of CT scans performed before and after neoadjuvant chemotherapy. p53 and HER2/neu protein expression were evaluated by immunohistochemistry (IHC) using antibodies against p53 (clone PAb 1801, Novocastra) and against HER2/neu (Dako) in paraffin-embedded specimens of tumors. A response to therapy (CR+PR) was observed in 27 patients, while 40 patients (SD+PD) were regarded as resistant to therapy. Resistance was observed significantly more often in tumors above 3 cm in diameter. p53 expression was found in 16 tumors (23.9%) and HER2/neu in 26 tumors (38.8%). We observed a nonsignificant tendency to chemoresistance in tumors with HER-2/neu overexpression and also in tumors with p53 overexpression. If we consider HER-2/neu and p53 together, chemoresistance was observed statistically significantly more often when one or both markers were positive (p<0.05). This significance was independent of tumor size.
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PMID:p53 and HER2/neu expression in relation to chemotherapy response in patients with non-small cell lung cancer. 1684 10

Evidence suggests that breast cancer hormone receptor status varies by etiologic factors, but studies have been inconsistent. In a population-based case-control study in Poland that included 2,386 cases and 2,502 controls, we assessed ER-alpha and PR status of tumors based on clinical records according to etiologic exposure data collected via interview. For 842 cancers, we evaluated ER-alpha, ER-beta, PR and HER2 levels by semiquantitative microscopic scoring of immunostained tissue microarrays and a quantitative immunofluorescence method, automated quantitative analysis (AQUAtrade mark). We related marker levels in tumors to etiologic factors, using standard regression models and novel statistical methods, permitting adjustment for both correlated tumor features and exposures. Results obtained with different assays were generally consistent. Receptor levels varied most significantly with body mass index (BMI), a factor that was inversely related to risk among premenopausal women and directly related to risk among postmenopausal women with larger tumors. After adjustment for correlated markers, exposures and pathologic characteristics, PR and HER2 AQUA levels were inversely related to BMI among premenopausal women (p-trend = 0.01, both comparisons), whereas among postmenopausal women, PR levels were associated directly with BMI (p-trend = 0.002). Among postmenopausal women, analyses demonstrated that BMI was related to an interaction of PR and HER2: odds ratio (OR) = 0.86 (95% CI = 0.69-1.07) for low PR and HER2 expression vs. OR = 1.78 (95% CI = 1.25-2.55) for high expression (p-heterogeneity = 0.001). PR and HER2 levels in breast cancer vary by BMI, suggesting a heterogeneous etiology for tumors related to these markers.
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PMID:Variation in breast cancer hormone receptor and HER2 levels by etiologic factors: a population-based analysis. 1748 43


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