Subject(s)
Restless Legs Syndrome , Child , Humans , Republic of Korea , Restless Legs Syndrome/diagnosisABSTRACT
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.
Subject(s)
Fibrinogen/genetics , Stroke/genetics , Adolescent , Alleles , Case-Control Studies , Child , Female , Genotype , Humans , Male , Polymorphism, Restriction Fragment Length , Polymorphism, Single NucleotideABSTRACT
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.
Subject(s)
Family Health , Genetic Predisposition to Disease , Plasminogen Activator Inhibitor 1/genetics , Polymorphism, Genetic/genetics , Stroke/genetics , Adolescent , Brain Ischemia/complications , Case-Control Studies , Chi-Square Distribution , Child , Child, Preschool , Gene Frequency , Genome-Wide Association Study , Genotype , Humans , Infant , Infant, Newborn , Poland , Risk Factors , Stroke/etiologyABSTRACT
OBJECTIVE: To evaluate the contribution of antiphospholipid antibodies (aPL) and thrombomodulin (Thm) in the pathogenesis of stroke and migraine in children. MATERIALS AND METHODS: Ninety children were included in the study: 30 children (4-15 years) after an ischemic stroke of an unknown etiology; 30 migrainous patients (8-15 years), who were hospitalized in the Department of Developmental Neurology, Medical University of Gdansk, Poland, and 30 healthy children of the same age. RESULTS: The statistical analysis showed an increase in the values of anticardiolipin antibodies (aCL), anti beta2-glycoprotein 1 (beta2-GP1) and Thm in children with stroke and migraine than in the control group. The resultant values were higher, but stayed at standard. CONCLUSION: The possible role of prothrombotic factors in individual cases of pediatric stroke and migraine cannot be excluded.
Subject(s)
Antibodies, Antiphospholipid/blood , Brain Ischemia/etiology , Intracranial Thrombosis/complications , Migraine Disorders/etiology , Stroke/etiology , Thrombomodulin/blood , Adolescent , Antibodies, Anticardiolipin/analysis , Antibodies, Anticardiolipin/blood , Antibodies, Antiphospholipid/analysis , Blood Coagulation/physiology , Brain Ischemia/blood , Brain Ischemia/physiopathology , Causality , Cerebral Arteries/metabolism , Cerebral Arteries/physiopathology , Child , Child, Preschool , Endothelium, Vascular/metabolism , Endothelium, Vascular/physiopathology , Female , Glycoproteins/immunology , Humans , Intracranial Thrombosis/blood , Intracranial Thrombosis/diagnosis , Male , Migraine Disorders/blood , Migraine Disorders/physiopathology , Predictive Value of Tests , Stroke/blood , Stroke/physiopathology , Thrombomodulin/analysis , beta 2-Glycoprotein IABSTRACT
The paper demonstrates anti-phospholipid antibodies to be a risk factor in ischaemic stroke in children. The function and importance of anticardiolipid antibodies and lupus anticoagulant are discussed. The author recall the definition of the anti-phospholipid syndrome and the resultant neurological disturbances, especially ischaemic stroke in children. In a series of 20 patients with cerebral ischaemic stroke aged 8 months to 16 years and hospitalized in the years 1990-98, anticardiolipid antibodies were determined. Of 20 patients, 12 children tested positive and preventive aspirin therapy was initiated. These preliminary results invite further investigations on the role of anticardiolipid antibodies in the pathogenesis of cerebral vascular diseases in children.
