[Socio-demographic and healthy situation of children with Down syndrome based own observation]. / Sytuacja spoleczno-demograficzna i zdrowotna dzieci z zespolem Downa na podstawie wlasnych obserwacji.

INTRODUCTION: Family creates the atmosphere and conditions for the development of a child with Down's syndrome, is a place where are the links, and course of personality development of its members. THE AIM OF THE WORKS IS the comparison of the socio-demographic situation, pregnancy period, birth and state of infant in children with Down syndrome born between 1981-2008, divided into 3 subgroups: A - 100 children born before 1990, B - 445 children born between 1991-2000, C - 85 children born between 2001-2008, in reference to control group of 50 healthy children. MATERIAL AND METHODS: Retrospective analysis consists of 630 children with Down syndrome treated in a subclinical specialist office. Documentation information grouped into 29 collective features (X1-X29) served for statistical analysis of results in Excel and Access programs of MS Office pack. RESULTS: Subgroups of examined children with Down syndrome did not differ according to the socio-demographic situation except in number of conducted cytogenetic examinations and the age of therapy onset. Distinction in reference to healthy children was noticed in the age and education level of parents, pregnancy period, birth and infant status, the amount of time spent in infant or pediatric ward. CONCLUSIONS: The examined group of Down syndrome children in reference to healthy children manifests statistically more presence of pathology in the pregnancy period (prematurity, miscarriage treat, intrauterus infections), birth and infant status which require longer stay at hospital ward. In the last 3 decades a positive change has been observed of Down syndrome child perception in the family, earlier diagnosis made based on cytogenetic examination, what consequently results in therapy onset in the first months of life.

Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology.

The aim of the study is to verify the hypothesis that genetic polymorphisms are associated with the predisposition to all malignancies. Using as a model breast cancers from the homogenous Polish population (West Pomeranian region) after stratification of 977 patients by age at diagnosis (under 51 years and above 50 years) and by tumour pathology (ductal cancers--low and high grade, lobular cancers, ER-positive/negative) we tested this hypothesis. Altogether 20 different groups of breast cancer cases have been analyzed. The results were compared to a group of unaffected controls that were matched by age, sex, ethnicity and geographical location and originated from families without cancers of any site among relatives. Molecular alterations selected for analyses included those which have been previously recognized as being associated with breast cancer predisposition. Statistically significant differences between the breast cancer cases and controls were observed in 19 of the 20 analyzed groups. Genetic changes were present in more than 90% of the breast cancer patients in 18 of 20 groups. The highest proportion of cases with constitutional changes-99.3% (139/140) was observed for lobular cancers. The number and type of genetic marker and/or the level of their association with the specific cancer predisposition was different between groups. Markers associated with majority of groups included: BRCA1, CHEK2, p53, TNRnTT, FGFRnAA, XPD CC/AA and XPD GG. Some markers appeared to be group specific and included polymorphisms in CDKN2A, CYP1B1, M3K nAA, and RS67.

Breast cancer susceptibility genes.

In 1999 it has been recognized that 3 BRCA1 abnormalities - 5382insC, C61G and 4153delA - constitute almost 90% of all germline mutations of this gene in Poland. Due to the above findings we started performing the cheap and quick large scale testing for BRCA1 mutations and, these days, we have almost 4,000 carriers diagnosed and under direct or indirect supervision what is probably the largest number in the world. Additionally, the above results pushed us to hypothesize that genetic homogeneity will be seen in Poland in studies of other genes. Actually, the next studies allowed us to identify genes / changes associated with moderate / low breast cancer risk and showed, similarly to BRCA1, high level of genetic homogeneity. This series included BRCA2, C5972T, CHEK2 del5395; 1100delC, I157T or IVS2 + 1G > A, CDKN2A (p16) A148T, XPD Asp312Asn and Lys751Gln, CYP1B1 R48G, A119S and L43V. The results of the above studies led us in 2004 already to hypothesize that >90% of all cancers have genetic (constitutional) background. Two years later we were able to show a panel of markers covering 92% of consecutive breast cancers in Poland, and we formulated the hypothesis that all cancers have a genetic background. These days we are demonstrating for the first time that genetic components to malignancy play a role in all cancers. We are presenting it on examples of late-onset breast cancers from Poland, but it seems to be justified to expect that similar results can be achieved from other malignancies.

Functional evaluation of the remaining kidney in patients after unilateral nephrectomy.

BACKGROUND: Unilateral nephrectomy is quite often surgical procedure. The remaining kidney undergoes a sequel of adaptational processes. The aim of the study was to evaluate kidney function in patients subjected to unilateral nephrectomy. MATERIALS AND METHODS: The study was carried out in 28 subjects allocated into three groups: healthy controls (n = 8) and patients subjected to unilateral nephrectomy evaluated 1 month (n = 10) and 1 year (n = 10) from the surgery. Biochemical as well ultrasonographic and scintigraphic data were recorded. RESULTS: From all evaluated standard biochemical parameters (creatinine, creatinine clearance, urea, microalbuminuria) significant changes were observed in the case of creatinine and microalbuminuria levels at 1 month, which increased from 0.96 mg/ml to 1.05 mg/dl and from 5.14 mg/24 h to 20.0 mg/24 h, respectively. (99)Tc(m)-DTPA plasma clearance was significantly elevated in patients 1 month after unilateral nephrectomy, by 7.5%, with a decrease by 17% in patients 1 year after surgical procedure, in reference to the control subjects. A significant increase in (99)Tc(m)-EC plasma clearance of patients evaluated 1 year from the operation, by 13% (p < 0.05) in comparison to the control group was seen. RI index markedly increased in nephrectomised patients both after 1 month and 1 year from the operation as compared to the controls, from 0.59 to 0.64 (p < 0.05) and 0.63 (p < 0.05), respectively. CONCLUSION: Adaptational changes of the remaining kidney are observed in patients 1 month and 1 year after unilateral nephrectomy.