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1.
Neurol Neurochir Pol ; 57(3): 243-260, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37144904

RESUMEN

Stroke remains one of the greatest health challenges worldwide, due to a high mortality rate and, despite great progress in its treatment, the significant disability that it causes. Studies conducted around the world show that the diagnosis of stroke in children is often significantly delayed. Paediatric ischaemic arterial stroke (PAIS) is not only a problem that varies greatly in frequency compared to the adult population, it is also completely different in terms of its risk factors, clinical course and outcome. The main reason for the lack of a rapid diagnosis of PAIS is a lack of access to neuroimaging under general anaesthesia. The insufficient knowledge regarding PAIS in society as a whole is also of great importance. Parents and carers of children should always bear in mind that paediatric age is not a factor that excludes a diagnosis of stroke. The aim of this article was to develop recommendations for the management of children with acute neurological symptoms suspected of ischaemic stroke and further treatment after confirmation of the ischaemic aetiology of the problem. These recommendations are based on current global recommendations for the management of children with stroke, but our goal was also to match them as closely as possible to the needs and technical diagnostic and therapeutic possibilities encountered in Poland. Due to the multifactorial problem of stroke in children, not only paediatric neurologists but also a neurologist, a paediatric cardiologist, a paediatric haematologist and a radiologist took part in the preparation of these recommendations.


Asunto(s)
Isquemia Encefálica , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Niño , Humanos , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/terapia , Accidente Cerebrovascular/epidemiología , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/terapia , Isquemia Encefálica/epidemiología , Polonia , Neuroimagen
2.
Sleep Med ; 89: 48-54, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34883398

RESUMEN

BACKGROUND AND AIMS: The data on the prevalence of the Restless Legs Syndrome/Willis -Ekbom disease (RLS/WED) in the population of teenagers is scarce. The aim of this study was to determine RLS/WED occurrence in adolescents, its diagnostic accuracy, family history, clinical characteristics and impact on everyday functioning. MATERIAL AND METHODS: A group of 2379 pupils (aged 13-18 y.o.) from 6 randomly selected secondary schools in Gdansk, Poland were screened for RLS/WED with the use of a questionnaire. In order to verify the diagnosis and perform additional tests (neurological examination, psychological evaluation, biochemical blood tests, demographic questionnaire, International RLS rating scale/IRLSS, Epworth daytime sleepiness scale). all of the respondents with RLS/WED suspicion and their parents were asked for a consultation by a child neurologist. Both children and parents with RLS/WED diagnosis were tested with actigraphy at home for at least two consecutive nights. RESULTS: Two thousand and ninety seven students (88,15%) filled the questionnaire correctly (1171 girls and 926 boys, 56% and 44%). Sixty four respondents were suspected of having RLS/WED (3,1%), however, 36 of them were diagnosed as RLS/WED-mimics (mainly positional discomfort). Finally, 21 (1%) were diagnosed with definite idiopathic RLS/WED. The average age of symptom onset was 10.96 years. The severity was moderate in the most of the cases (61.9%) and the course of the disease was intermittent in all of them. Family history was positive in 80%. Abnormal actigraphy (PLMS index >5/h) was present in 80%. Blood level of ferritin was low (<50 ng/ml) in 85%. Excessive daytime sleepiness and school problems affected almost half of them. The presence of RLS/WED symptoms was associated with disrupted sleep, behavioral problems (irritability, aggression, hyperactivity), attention deficit and lowered mood. No correlation between RLS/WED and attention deficit hyperactivity disorder (ADHD), nocturnal enuresis or primary headaches was found. Thirty eight percent of the patients sought medical help, but none of them obtained proper diagnosis nor treatment of RLS/WED. CONCLUSIONS: In this study restless legs syndrome affected 1% of Polish teenagers, in the majority of cases was idiopathic and associated with positive family history. It affected sleep and everyday functioning. Neurological consultation is essential to avoid false positive diagnoses of RLS/WED in teenagers.


Asunto(s)
Trastornos de Somnolencia Excesiva , Síndrome de las Piernas Inquietas , Adolescente , Niño , Femenino , Ferritinas , Humanos , Masculino , Prevalencia , Síndrome de las Piernas Inquietas/diagnóstico , Síndrome de las Piernas Inquietas/tratamiento farmacológico , Síndrome de las Piernas Inquietas/epidemiología , Encuestas y Cuestionarios
3.
Cephalalgia ; 41(6): 690-700, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33297744

RESUMEN

INTRODUCTION: The co-occurrence of headache and epilepsy is well-documented in the adult population. The aim of the prospective study was to analyse in the paediatric population the correlations between the types of peri-ictal headaches and types of seizures. Furthermore, an attempt was made to find trends in characteristic features of peri-ictal headaches.Material: A total of 57 children with peri-ictal headache were enrolled in the study. The participants' guardians were asked to keep a diary of the seizure and peri-ictal headache episodes during a 180-day period. During follow-up visits, systematic history regarding peri-ictal headaches was taken. RESULTS: A total of 913 seizure and 325 peri-ictal headache episodes were noted during the study. Post-ictal headaches were most common, occurring in < 1 h after the seizure, lasting minutes to hours and more likely to occur after generalised seizures, whereas pre-ictal headaches occurred 30-240 min before the seizure. In the analysed group, peri-ictal headaches were most often moderate in intensity. Only 30% of patients took analgesic medication, usually to treat post-ictal headaches. CONCLUSION: Peri-ictal headaches are a significant health problem for patients with epilepsy. The most common type are post-ictal headaches, and they are most likely to appear after a generalised seizure.


Asunto(s)
Epilepsia/epidemiología , Cefalea/complicaciones , Convulsiones/epidemiología , Convulsiones/etiología , Adolescente , Niño , Electroencefalografía , Femenino , Cefalea/diagnóstico , Cefalea/epidemiología , Humanos , Masculino , Prevalencia , Estudios Prospectivos
4.
Early Hum Dev ; 151: 105197, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32979679

RESUMEN

BACKGROUND: The Prechtl General Movement Assessment (GMA) predicts various neurological and developmental disorders while also documenting therapeutic effects. AIMS: To describe the temporal organization of fidgety general movements in infants with mild to moderate postural asymmetries and/or tonus regulation problems, and to analyze to what extent the temporal organization of fidgety movements will change after physiotherapy. STUDY DESIGN: Repeated measure design. PARTICIPANTS: Twelve infants (five females) with mild to moderate postural asymmetries and/or tonus regulation problems were admitted for an early intervention program. The gestational age ranged from 27 to 40 weeks (Median, 36 weeks; nine infants born preterm) with birth weights ranging from 740 g to 3500 g (Median, 2590 g). MEASURES: Fidgety movements and their temporal organization were measured using the Prechtl GMA at 9 to 19 weeks post term age (Median, 14 weeks) before and after an early motor training procedure. The movements of one of the infants were analysed using a computer-based approach, measuring the mean and standard deviation of quantity of motion, height of motion and width of motion. RESULTS: Seven infants had sporadic fidgety movements, and five had intermittent fidgety movements. None had continual fidgety movements before the intervention was initiated. After intervention, the temporal organization of fidgety movements increased in all infants. The observations of these movements were supported by computer-based analysis. CONCLUSION: The study indicates that early intervention increases the temporal organization of fidgety movements in infants with postural asymmetries and/or tonus regulation problems. The clinical significance of this finding needs to be further evaluated.


Asunto(s)
Discapacidades del Desarrollo/prevención & control , Intervención Médica Temprana/métodos , Recien Nacido Prematuro/fisiología , Movimiento , Modalidades de Fisioterapia , Discapacidades del Desarrollo/terapia , Femenino , Humanos , Recién Nacido , Recien Nacido Prematuro/crecimiento & desarrollo , Masculino , Tono Muscular , Postura
6.
J Stroke Cerebrovasc Dis ; 27(7): 1885-1889, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-29598907

RESUMEN

BACKGROUND: Pediatric ischemic stroke is an important cause of morbidity and mortality. As previous studies of children after stroke showed, dyslipidemias were very common in Polish and other European populations. Thus, looking for genetic factors predisposing to pediatric stroke, its symptoms, and outcome, we have analyzed 2 polymorphisms of the upstream stimulating factor 1 (USF-1) gene. MATERIALS AND METHODS: The study group consisted of 82 children with stroke, 156 parents, and 146 controls. We used 2 alternative methods: the case-control model and the analysis of families using the transmission disequilibrium test. The 2 polymorphisms, rs2516839 and rs3737787, were genotyped using the TaqMan Pre-Designed SNP Genotyping Assay. The Statistica 10.0 software was used in all statistical analyses. RESULTS: We did not observe any statistical differences in genotype and allele frequencies between patients and controls. There were also no significant differences in the transmission of alleles from the parents to the affected children. However, we have observed that the TT genotype of the rs2516839 polymorphism was more common in patients with epilepsy and dysarthria, whereas the TT genotype of the rs3737787 polymorphism was more frequent in the group of patients with a decrease in intellectual functioning. CONCLUSIONS: Our study did not show any associations between the 2 analyzed polymorphisms of the USF-1 gene and pediatric ischemic stroke. However, we have observed an influence of specific genotypes on the outcome of stroke, including epilepsy, dysarthria, and a decrease in intellectual functioning.


Asunto(s)
Isquemia Encefálica/genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Accidente Cerebrovascular/genética , Factores Estimuladores hacia 5'/genética , Adolescente , Adulto , Isquemia Encefálica/complicaciones , Isquemia Encefálica/fisiopatología , Estudios de Casos y Controles , Niño , Preescolar , Progresión de la Enfermedad , Disartria/etiología , Disartria/genética , Disartria/fisiopatología , Epilepsia/etiología , Epilepsia/genética , Epilepsia/fisiopatología , Femenino , Estudios de Seguimiento , Estudios de Asociación Genética , Humanos , Lactante , Discapacidad Intelectual/etiología , Discapacidad Intelectual/genética , Discapacidad Intelectual/fisiopatología , Masculino , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/fisiopatología , Adulto Joven
8.
J Stroke Cerebrovasc Dis ; 26(12): 2763-2768, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28778720

RESUMEN

BACKGROUND: The association of 9p21.3 locus single nucleotide polymorphisms with arterial ischemic stroke in adults was demonstrated in many studies, but there are no studies in pediatric arterial ischemic stroke patients. We investigated whether the 9p21.3 locus polymorphism, namely rs10757278, is associated with the arterial ischemic stroke risk in children. METHODS: The study group consisted of 335 individuals: 80 children with arterial ischemic stroke, their biological parents (n = 122), and 133 children (age and sex matched) without any symptoms of arterial ischemic stroke as a control group. The rs10757278 polymorphism was genotyped using the TaqMan® Pre-designed SNP Genotyping Assay (Applied Biosystems). Two different study design models were used: family-based association test (transmission-disequilibrium test) and case-control model. RESULTS: There were no statistically significant differences in the distribution of genotypes and alleles of the rs10757278 polymorphism between groups of children with arterial ischemic stroke and controls. The frequency of both transmitted alleles in transmission-disequilibrium test analysis was identical (50%). The A allele carrier state (AA+AG genotype) was more frequent in arterial ischemic stroke children with hemiparesis than in patients without this symptom (94.5% versus 68.0%, P = .004). CONCLUSIONS: There is no evidence to consider the 9p21.3 locus polymorphism as a risk factor for childhood arterial ischemic stroke.


Asunto(s)
Isquemia Encefálica/genética , Cromosomas Humanos Par 9 , Sitios Genéticos , Polimorfismo de Nucleótido Simple , Accidente Cerebrovascular/genética , Adolescente , Edad de Inicio , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/epidemiología , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Heterocigoto , Homocigoto , Humanos , Masculino , Paresia/epidemiología , Paresia/genética , Linaje , Fenotipo , Polonia/epidemiología , Factores de Riesgo , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/epidemiología
9.
J Stroke Cerebrovasc Dis ; 24(1): 61-5, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25440348

RESUMEN

Moderate hyperhomocysteinemia is one of the risk factors of pediatric stroke. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme, which regulates homocysteine metabolism, and some polymorphisms of gene encoding this enzyme are associated with a decreased activity of the enzyme. The aim of the study was to assess an association between the A1298C polymorphism and pediatric stroke. We also evaluated a possible synergistic effect of A1298C and C677T polymorphisms of this gene. The study group consisted of 88 children after ischemic stroke, 142 of their parents and 111 controls. The A1298C polymorphism was genotyped using the restriction fragment length polymorphism method. We used 2 study designs: a case-control model and a family-based association test. The Statistica 7.1 and EpiInfo 6 softwares were used in all analyses. We did not observe any statistically significant differences either in the transmission of the A allele in the family-based test or in the frequency of the A allele in the patients group compared with the controls. We also did not notice any significant additive or synergistic effects between the A1298C and C677T polymorphisms. An analysis of the results obtained in this study and a critical review of previously published studies indicate that the A1298C polymorphism of the MTHFR gene is not related to ischemic stroke in children.


Asunto(s)
Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo Genético/genética , Accidente Cerebrovascular/genética , Adolescente , Alelos , Estudios de Casos y Controles , Niño , Preescolar , Familia , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Hiperhomocisteinemia/complicaciones , Hiperhomocisteinemia/genética , Lactante , Masculino , Polimorfismo de Longitud del Fragmento de Restricción , Accidente Cerebrovascular/enzimología
10.
Am J Otolaryngol ; 35(5): 651-4, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25086707

RESUMEN

PURPOSE: The most common causative factors of CSF otorrhea in children are injuries and congenital abnormalities of the temporal bone. Spontaneous CSF leak as a consequence of congenital temporal bone defects may result in recurrent meningitis. Diagnosis and management of such an entity are particularly difficult in early childhood. MATERIALS AND METHODS: The aim of this study was to investigate clinical features and to discuss possible methods of treatment of spontaneous CSF otorrhea in children. RESULTS: Severe unilateral sensorineural hearing loss or total deafness was found in children with CSF otorrhea. CT and MRI of the temporal bones revealed dehiscences in the walls of the tympanic cavity and defects of the inner ear, which were confirmed intraoperatively. Lateral petrosectomy and closure of the fistula with muscle tissue and fat obliteration cavity were performed. The children remain free of otorrhea and recurrences of meningitis. CONCLUSION: The diagnosis of spontaneous otorrhea in children is based on the severe unilateral sensorineural hearing loss and presence of CSF in the middle ear cavity. It may be successfully treated by means of lateral petrosectomy with obliteration of the vestibule with muscle tissue and tympanic cavity with fat tissue.


Asunto(s)
Otorrea de Líquido Cefalorraquídeo/diagnóstico , Otorrea de Líquido Cefalorraquídeo/cirugía , Otorrea de Líquido Cefalorraquídeo/complicaciones , Preescolar , Diagnóstico Diferencial , Femenino , Pérdida Auditiva Sensorineural/etiología , Humanos , Imagen por Resonancia Magnética , Masculino , Meningitis/etiología , Meningitis/microbiología , Recurrencia , Hueso Temporal , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
11.
Neurologist ; 18(5): 282-6, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22931734

RESUMEN

BACKGROUND: The investigation of a possible association between the FII, FV, FVII, and FXIII genes polymorphisms and pediatric ischemic stroke (IS). METHODS: The study group consisted of 392 individuals, including 81 children with IS, their biological parents (n=162), and 149 control children. The polymorphisms were genotyped using polymerase chain reaction-restriction fragments length polymorphism method. The relation between analyzed polymorphisms and the disease was tested by 2 independent methods: family-based association test-transmission/disequilibrium test (TDT) and classic case-control model. RESULTS: We did not observe any preferential distribution of any analyzed allele from parents to the affected children. For the FVII gene polymorphism, there was a trend toward a higher frequency of the R allele. In a case-control model, the differences between the patients and controls in the frequency of the Q allele, Q allele carriers, and RR homozygotes lay close to the border of statistical significance (P=0.08). There were no significant differences in genotype and allele distribution between patients and controls in case of other polymorphisms. CONCLUSIONS: Analyzed polymorphisms of coagulation factors are not significant determinants of pediatric IS in the studied population; however, these findings require a confirmation in a larger group of participants.


Asunto(s)
Factores de Coagulación Sanguínea/genética , Isquemia Encefálica/genética , Accidente Cerebrovascular/genética , Adolescente , Alelos , Isquemia Encefálica/complicaciones , Estudios de Casos y Controles , Niño , Preescolar , Factor V/genética , Factor VII/genética , Factor XIII/genética , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Lactante , Masculino , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Protrombina/genética , Accidente Cerebrovascular/etiología
12.
Folia Neuropathol ; 50(2): 147-51, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22773460

RESUMEN

OBJECTIVES: Ischemic stroke remains one of the top ten causes of death in children. There is evidence for the role of pro-inflammatory cytokines, such as IL-6 and the -174G>C promoter polymorphism of the IL-6 gene, in the occurrence and outcome of stroke in adults. The aim of the present study was to determine a possible association between the -174G>C IL-6 polymorphism and occurrence of paediatric stroke, its symptoms and outcome. MATERIAL AND METHODS: The study group consisted of 340 individuals: 80 stroke children, 122 parents of patients and 138 controls. The -174G/C polymorphism was genotyped using the RFLP method. For the analysis of the relationship between genotypes and stroke we used two alternative methods: the case-control model and the transmission test for linkage disequilibrium using data from families. RESULTS: We observed no differences in the transmission of alleles from parents to children. We also did not find any statistical differences in distribution of genotypes and alleles between patients and controls. However, the analysis showed that post-stroke epilepsy was genotype-dependent. All children with epilepsy were G allele carriers and none of them was a CC homozygote whereas about 25% of children without epilepsy had the CC genotype. CONCLUSIONS: Our study did not show any associations between the IL-6 -174 G>C polymorphism and the occurrence of stroke but we observed a relation between post-stroke epilepsy and the G allele carrier-state.


Asunto(s)
Isquemia Encefálica/genética , Predisposición Genética a la Enfermedad/genética , Interleucina-6/genética , Polimorfismo de Nucleótido Simple , Accidente Cerebrovascular/genética , Adolescente , Niño , Preescolar , Femenino , Genotipo , Humanos , Lactante , Masculino , Polimorfismo de Longitud del Fragmento de Restricción , Factores de Riesgo
13.
Mol Biol Rep ; 39(8): 7957-63, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22555977

RESUMEN

The 677C>T polymorphism within methylenetetrahydrofolate reductase (MTHFR) gene is related to an elevated level of homocysteine. Thus it may be considered as a genetic risk factor in ischemic stroke. Apparently studies of this type of polymorphism in childhood stroke have shown conflicting results. We performed meta-analysis of all the data that are available in relation with MTHFR polymorphism and the risk of ischemic stroke in children. We searched PubMed (last search dated December 2010) using "MTHFR polymorphism", "ischemic stroke" "child", "children", "pediatric stroke" as keywords and reference lists of studies and reviews on the topic. Finally, 15 case-control studies corresponded to the inclusion criteria for meta-analysis. These studies involved the total number of 822 children and adolescents after ischemic stroke and 1,552 control subjects. Fixed or random effects models were used depending on the heterogeneity between the studies. The association between ischemic stroke and 677C>T polymorphism within MTHFR gene was observed in three of the studies. The pooled analysis showed that TT genotype of MTHFR gene is more common in stroke patients than in controls (p = 0.0402, odds ratio = 1.57, 95 % confidence interval 1.02-2.41). The Egger's test did not reveal presence of a publication bias. The results based on a sizeable group of cases and controls have proved that the 677C>T polymorphism in MTHFR gene is associated with the development of ischemic stroke in children.


Asunto(s)
Isquemia Encefálica/genética , Predisposición Genética a la Enfermedad , Genotipo , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple , Accidente Cerebrovascular/genética , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Oportunidad Relativa
15.
Neurol Neurochir Pol ; 44(5): 453-8, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-21082491

RESUMEN

BACKGROUND AND PURPOSE: Reactive oxygen species play an important role in the physiology and pathology of cerebral arteries, including ischaemic stroke. The cytochrome b-245 alpha gene (CYBA) encodes cytochrome b-245 alpha light chain (p22phox peptide), a critical element of NAD(P)H oxidases, the most important source of superoxide anion in the cerebral arteries. To search for genetic factors associated with paediatric ischaemic stroke, the possible association between CYBA gene C242T polymorphism and the disease was evaluated. MATERIAL AND METHODS: The study group consisted of 238 individuals: children with ischaemic stroke (n = 70), their biological parents (n = 118) and children without any symptoms of stroke (n = 50). The C242T polymorphism was genotyped using polymerase chain reaction - restriction fragment length methodology. To evaluate the possible association between polymorphism and stroke, the transmission disequilibrium test and the case-control method were applied. RESULTS: The C242 allele was transmitted more frequently than 242T (62.2% vs. 37.8%) but observed frequencies did not differ significantly from expected (p = 0.10). There were also no significant differences in allele and genotype distribution between patients and control subjects (patients: CC - 50.0%, CT - 38.6%, TT - 11.4% vs. controls: CC - 52.0%, CT - 36.0%, TT - 12.0%). CONCLUSIONS: The study did not show that the C242T polymorphism of the CYBA gene is a risk factor of ischaemic stroke in children.


Asunto(s)
Isquemia Encefálica/genética , Predisposición Genética a la Enfermedad/genética , NADPH Oxidasas/genética , Polimorfismo Genético , Accidente Cerebrovascular/genética , Adolescente , Alelos , Isquemia Encefálica/prevención & control , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Frecuencia de los Genes , Humanos , Lactante , Masculino , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Factores de Riesgo , Accidente Cerebrovascular/prevención & control
16.
Cell Biochem Funct ; 28(7): 591-6, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20941749

RESUMEN

Genes related to platelet and arterial endothelial function have been recently considered as independent risk factors for stroke. We aimed to analyze a relationship between the E-selectin 98G > T polymorphism and stroke in children and to observe the transmission of E-selectin alleles from heterozygous parents to their affected children. We studied 59 children after stroke, 112 parents, and 87 healthy children. The E-selectin 98G > T polymorphism was analyzed with the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The frequency of the 98T allele in patients was almost twofold lower than in controls (5.1% vs. 9.8%, p = 0.145, odds ratios (OR) = 0.49) as well as carriers of the 98T allele (19.5% in controls vs. 8.5% in cases, p = 0.067, OR = 0.38). The G allele of the E-selectin 98G > T polymorphism was more frequently transmitted to the children after stroke compared to the T allele (68% vs. 32%). In conclusion, we did not confirm the relationship between the 98G > T polymorphism of the E-selectin gene and childhood ischemic stroke. There is still a need for further studies.


Asunto(s)
Isquemia Encefálica/genética , Selectina E/genética , Polimorfismo de Nucleótido Simple , Accidente Cerebrovascular/genética , Adolescente , Edad de Inicio , Isquemia Encefálica/complicaciones , Portador Sano , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Estudios de Asociación Genética , Humanos , Lactante , Masculino , Padres , Polonia , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Accidente Cerebrovascular/complicaciones
18.
Pediatr Neurol ; 43(1): 25-8, 2010 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-20682199

RESUMEN

Ischemic stroke in children is relatively rare, but it remains an important medical problem. Previous studies on Polish children have implicated dyslipidemias as significant risk factors in stroke. To search for genetic factors associated with the disease, the possible association between apolipoprotein E gene epsilon polymorphism and childhood stroke was evaluated. The study population consisted of 243 individuals: 72 children with ischemic stroke and 100 of their biological parents and 71 children without any symptoms of stroke. The apolipoprotein E gene epsilon polymorphism was genotyped using restriction fragment length polymorphism methodology. To analyze the possible association between this polymorphism and stroke, the transmission disequilibrium test and the case-control model were used. No preferential distribution of any allele from parents to the affected children was observed. There were also no significant differences in genotype and allele distribution between patients and control subjects. Study findings did not confirm that epsilon polymorphism of the apolipoprotein E gene is a risk factor of ischemic stroke in children.


Asunto(s)
Apolipoproteínas E/genética , Isquemia Encefálica/genética , Accidente Cerebrovascular/genética , Adolescente , Alelos , Niño , Preescolar , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Lactante , Masculino , Polimorfismo Genético
19.
Med Sci Monit ; 16(7): CR348-51, 2010 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-20581778

RESUMEN

BACKGROUND: A quantitative systematic review recently discussed the role of thrombomodulin (Thm) and antibeta2-glycoprotein I (beta2-GPI) in cerebral strokes in adults. Little is known about the problem in children. The aim of the study was to see if there is a difference in the values of Thm and beta2-GPI in children with ischemic stroke. MATERIAL/METHODS: Seventy patients were included, comprising 40 children who had had ischemic stroke of unknown etiology hospitalized from January 1995 to December 2005 at the Department of Developmental Neurology, Chair of Neurology Medical University of Gdansk, and 30 healthy volunteers (no autoimmunologic disease or headache in interview). The concentrations of thrombomodulin (Thm) and antibeta2-glycoprotein I (beta2-GPI) in A, M, and G immunoglobulins were determined according to an immunoenzyme method (ELISA). RESULTS: None of the investigated subjects had elevated levels of beta2-GPI. The patients with stroke had significantly higher Thm values than the healthy group. CONCLUSIONS: This finding of elevated levels of thrombomodulin in cases of pediatric cerebral stroke could help in measuring the extent or duration of parenchymal brain injury, or even perhaps response to future therapeutic maneuvers. All these implications may aid not only in the diagnosis and management of acute ischemic stroke, but encourage prophylactic action to prevent probable stroke relapse.


Asunto(s)
Accidente Cerebrovascular/sangre , Trombomodulina/sangre , beta 2 Glicoproteína I/sangre , beta 2 Glicoproteína I/inmunología , Adolescente , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino , Valores de Referencia
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