Fibrinogen alpha and beta gene polymorphisms in pediatric stroke--case-control and family based study.

BACKGROUND/PURPOSE: Data on the role of the -455G > A polymorphism of the gene encoding ß fibrinogen subunit (FGB) and the Thr312Ala polymorphism of the gene for the α fibrinogen subunit (FGA) in childhood ischemic stroke are insufficient. Therefore the aim of the study was to evaluate a possible association between these two polymorphisms and arterial ischemic stroke. METHODS: The study group consisted of 85 children after ischemic stroke, 146 of their parents and 159 controls. Both polymorphisms were genotyped using the restriction fragment length polymorphism method. Two study designs were used: a case-control model and a family-based transmission-disequilibrium test. Statistica 7.1 and EpiInfo 6 softwares were used in all analyses. RESULTS: In the TDT test, a tendency to a higher transmission of the 312Ala allele of the FGA gene and the -455A allele of the FGB gene was observed, however, it was statistically non-significant. The frequencies of alleles and genotypes of both FGA and FGB genes polymorphisms did not differentiate children from both groups also in the case-control model. Additive or synergistic effects between FGA and FGB genes polymorphisms were not observed. CONCLUSION: An analysis of the results obtained in this study and a critical review of previously published data indicate that examined gene polymorphisms are not related to ischemic stroke in children.

The plasminogen activator inhibitor-1 gene polymorphism in determining the risk of pediatric ischemic stroke--case control and family-based study.

Pediatric ischemic stroke, though relatively rare, remains an important medical problem since 20-40% of patients have recurrent strokes and 50-85% of them suffer from long-term neurological deficits. Approximately 20-50% of the affected children have prothrombotic disorders, therefore upon looking for possible genetic causes of the disease we focused on the plasminogen activator inhibitor (PAI-1)--the major inhibitor of fibrinolysis. The aim of the present study was to investigate a possible association between the -675_-674insG PAI-1 gene polymorphism and pediatric ischemic stroke. The study population consisted of 343 individuals: 70 children with ischemic stroke, 140 their biological parents and 133 control children. The PAI-1 gene polymorphism was genotyped using the restriction fragment length polymorphism and was visualized by AgNO3 staining. The transmission/disequilibrium test showed exactly the same transmission of alleles from parents to the affected children (37:37). The case-control model also did not reveal any statistical significance in alleles and genotypes distribution between patients and control children. The obtained results suggest that the 4 G/5 G polymorphism of the PAI-I gene is not a risk factor of ischemic stroke in Polish children.

[The evaluation of selected factors in the prognosis of drug-resistant epilepsy in children with brain malformations]. / Ocena wybranych czynników w prognozowaniu padaczki lekoopornej u dzieci z wadami mózgu.

Brain malformations are important and frequent epilepsy reason in children and adolescents. During the last six years in neurological department of Pediatrics Clinic in Katowice were treated 106 children with brain malformations demonstrated in magnetic resonanse imaging. The main clinical symptoms in these patients were following: mental retardation, epilepsy, abnormalities in neurological examinations, dysmorphic features. Epilepsy were observed in above 3/4 of patients (84 children). In most of them there was intractable epilepsy (55 children). The aim of study was evaluation of selected factors in prognosis of epilepsy intractibility. The children with brain malformations and epilepsy were divided into two groups: with intractable epilepsy and with good response for pharmacotherapy. The type of malformation, the pre- i perinatal history, an age at which the first seizures appeared, abnormalities in neurological examination and IQ were compared in both groups. The differences weren't significant statistically apart two data. Normal pre- and perinatal history and early manifestation of seizures (during the first half of life) were confirmed significant statistically more often in group of patients with intractable epilepsy. There was limited value of most of the analysed parameters in prognosis of epilepsy intractibility. Further accumulating of data and increasing of number of the patients group with different types of malformations as well as progress in diagnostics, particularly molecular genetics, may be helpful in correct prognosis.

Deletion screening and carrier detection in Duchenne muscular dystrophy in Polish population via direct analysis of DNA and RNA transcripts.

Analysis of 102 Polish Duchenne/Becker muscular dystrophy (D/BMD) patients was performed by 'multiplex' amplification of 22 fragments of the DMD/BMD gene and deletions were found in 55% of the patients. The data obtained using PCR were compared with results of 25 Southern blotting and hybridization experiments with cDNA probes and with immunostaining using anti-dystrophin antibodies. In order to determine more precise deletion breakpoints, additional experiments were performed on dystrophin transcripts isolated from peripheral blood lymphocytes. These data found direct application in carrier analysis in the respective families by detection or exclusion of aberrant cDNA fragments. Carrier detection was also performed by RFLP-PCR, analysis of polymorphic (CA)n repeats and single stranded conformational polymorphism (SSCP) for selected exons of the DMD gene.