Upstream Stimulating Factor 1 (USF-1) Gene Polymorphisms and the Risk, Symptoms, and Outcome of Pediatric Ischemic Stroke.

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.

The rs10757278 Polymorphism of the 9p21.3 Locus in Children with Arterial Ischemic Stroke: A Family-Based and Case-Control Study.

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.

[The differential diagnosis of asymmetry in infants].

Asymmetry in infants is a clinical condition in which abnormal body shape, posture or mobility is observed. It is characterized by diverse etiology, localization and severity. The most frequently noted kind is idiopathic asymmetry.

Associations between MDR1 C3435T polymorphism and drug-resistant epilepsy in the Polish population.

Epilepsy is a common neurological disorder. About one-third of epileptic patients demonstrate multidrug resistance (MDR) phenotype and develop drug-resistant epilepsy (DRE). Single nucleotide polymorphism (SNP) C3435T (rs1045642), identified in the MDR1 gene, is associated with an increased intestinal expression of P-glycoprotein (P-gp) which affects the levels of anti-epileptic drugs in plasma.

Methylenetetrahydrofolate reductase gene A1298C polymorphism in pediatric stroke--case-control and family-based study.

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.

Polymorphisms of genes encoding coagulation factors II, V, VII, and XIII in relation to pediatric ischemic stroke: family-based and case-control study.

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.

Impact of the -174G/C interleukin-6 (IL-6) gene polymorphism on the risk of paediatric ischemic stroke, its symptoms and outcome.

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.

[Hypoxic-ischemic encephalopathy as a special form of head injury complication in battered child syndrome].

The battered child syndrome is increasingly more often described in literature. Head injuries experienced by battered children are the main cause of deaths and neurological complications. A special form of damage inflicted in battered children is vessel background brain injury.

[Epilepsy and mental retardation. The school's functioning in children with epilepsy].

Background: In 2009 Polish Society of Epileptology have conducted the survey of public opinion over the situation of the children suffering from epilepsy. Intellectual disability is a major indication for children with epilepsy to attend to special schools and learn in integrative classes. Neurodevelopmental disorders including intellectual disability, is associated with 5% of new-diagnosed cases of epilepsies and with 18% of all epilepsy cases in children.

The T allele of the 677C>T polymorphism of methylenetetrahydrofolate reductase gene is associated with an increased risk of ischemic stroke in Polish children.

Ischemic stroke is a very rare and multifactorial disease in children. The aim of the study was to analyze the relationship between the methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism and stroke in Polish children and to observe whether there is any significant transmission of MTHFR alleles from heterozygous parents to their affected offspring. We analyzed 64 patients with stroke, 122 parents, and 59 healthy children.

[Lentigines as an important of Peutz-Jeghersa Syndrome].

Peutz-Jeghers syndrome is an autosomal dominant inherited disorder which is characterized by mucocutaneus melanocytic macules and intestinal hamartomatous polypus. The aim of our work is to underline the role of pigmented changes in the diagnostic process. Numerous lentigines should always lead to multiorgan investigations.

[Lentigines in different multiple organ defects syndromes].

The aim of our study is to introduce a larger number of doctors to the subject of lentigines. They may be a first syndrome coexistent with very rare multiple organ defects as syndrome Peutz-Jeghers, LEOPARD, LAMB and Carney syndrome.

[The diagnostic and therapeutic management in the first cerebral attack in childhood].

Cerebral attacks are the most frequent neurological problem in childhood. The diagnostic and therapeutic management in the first cerebral attack belongs to subjects often discussed in literature but currently it arouses some controversies concerning especially the notions "cerebral attack", "unprovoked seizures" and also the fact when epilepsy should be diagnosed after the first or the second unprovoked attack of seizures and when to start its treatment. The author presents in detail the principles of the management of cerebral attack and its differentiation in children.

[Pseudoatrophic macules as a additional skin sign of neurofibromatosis].

Pseudoatrophic macules are the infrequently mentioned skin symptom of neurofibromatosis. It may be the important diagnostic sign, especially, when other symptoms are absent or puerlly expressed.

[Evaluation of brain activation by functional magnetic resonance in offspring of epileptic mothers and their parents in pathogenetic aspects of dyslexia].

Principle: So far, the assessment of cerebral centres activity during fonological awareness test with functional magnetic resonance (fMRI) of families with dyslexia has not been carried out. The up till now published studies concern insignificant number of children or adults with dyslexia, whose results have not been unequivocal.

The Aim: The general aim of the study is the explanation of the pathogenetic mechanisms of dyslexia in offspring of mothers with epilepsy and their family.

[Cognitive disturbances in rolandic epilepsy--correlation with electoencephalographic patterns].

Background: Up till now there have been many discussions in the epileptological literature concerning the occurrence of cognitive deficits in children with rolandic epilepsy (RE).

The Aim Of Study: The aim of this study is to establish whether there exist any differences in general intelligence quotient or in particular cognitive functions in children with RE as compared to healthy children in the same age and if a correlation can be found between EEG and cognitive function in RE.

Material And Methods: The material comprised two groups: 38 children with RE (1-2 years after diagnosis establishing) and 15 children of the same age and sex - the control group.

[Bickerstaff's brainstem encephalitis -- an analysis of clinical and MRI findings].

Background And Purpose: Bickerstaff's brainstem encephalitis (BBE) is a very uncommon central nervous system disease. Its etiology remains unknown but it is postulated that BBE has an autoimmunologic origin. BBE is characterized by acute ophtalmoplegia, ataxia, pyramidal paresis and disturbance of consciousness.

[Photosensitivity in children with idiopathic headaches].

The occipital lobe involvement in the pathogenesis of the migraine aura, frequent occurrence of photogenic stimuli as the provoking factors of a migraine attack, still unsatisfactory explanation of the relation between migraine and epilepsy have drawn our attention to the photosensitivity in the idiopathic headaches, particularly in the developmental period. Photosensitivity is detected in EEG as a paroxysmal response to intermittent photic stimulation. This reaction called a photoparoxysmal response (PPR) has to be regarded as genetically determined EEG-symptom and occurs in 1.

[Linear nevus sebaceous syndrome with hemimegalencephaly diagnosed in child in neonatal period].

The aim of this study was to present the case of the child with linear nevus sebaceous syndrome (LNSS) and hemimegalencephaly, diagnosed in neonatal period. It is one of the five epidermal nevus syndromes. Etiology of this multiorgan disease is still unknown.

[Neurocutaneous melanosis and congenital gigantic pigmented nevi in the light of current knowledge].

The aim of this work is to approach the subject of neurocutaneous melanosis and to point out the necessity and precise neurological diagnosis in each case of gigantic pigmented nevi. It is necessary to remember about early planning of skin changes removal which is the cause of lowering risk of malignant melanoma.

[Disorders of specific humoral immunological response in children with febrile seizures].

The aim of the study was to analyse a few recent aspects concerning the humoral immunological response deficiency in children with febrile seizures. 33 children were involved in the study: 16 with a single fit of febrile seizures and 17 with more than one fit. Children's average age was 37.

[Evaluation of EEG after long-lasting focal febrile seizures during childhood: prospective study until adulthood].

Unlabelled: The purpose of the study was to present differences in EEG in complicated (prolonged and/or focal) febrile seizures (FS) in relation to simple fs in the study conducted until adulthood.

Method: Material consisted EEG recordines: 1) 7-10 days after the seizures 2) in the age 3-5 years, 3) 8-12 years and 4) more than 17 years old.

Results: The percentage of normal EEG after complicated FS increased with age: 30%, 42%, 59%, 70%, respectively.

Cavernous sinus thrombophlebitis in Nijmegen breakage syndrome.

The aim of the study was to present rarely reported neurologic complications in Nijmegen breakage syndrome. A 13-year-old female was referred because of chronic progressive headaches. There were dysmorphic features on physical examination, which suggested a diagnosis of chromosomal instability syndrome.