125 results on '"Kaciński M"'
Search Results
2. Cluster headache in 2-year-old Polish girl
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Kaciński, M, Nowak, A, Kroczka, S, and Gergont, A
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- 2009
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3. A case of abetalipoproteinaemia in a Polish family
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Kaciński, M., Kaczmarski, F., Miezyński, W., Grzenda-Adamek, Z., Miszczuk-Jamska, B., Stopyrowa, J., and Sznajd, J.
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- 1991
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4. The Plasminogen Activator Inhibitor-1 Gene Polymorphism in Determining the Risk of Pediatric Ischemic Stroke − Case Control and Family-Based Study
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Balcerzyk, A., additional, Żak, I., additional, Emich-Widera, E., additional, Kopyta, I., additional, Iwanicki, T., additional, Pilarska, E., additional, Pienczk-Ręcławowicz, K., additional, Kaciński, M., additional, Wendorff, J., additional, and Połatyńska, K., additional
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- 2011
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5. Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency in a girl with eventful perinatal medical history
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Kaczorowska, M., primary, Kmieć, T., additional, Jakobs, C., additional, Kaciński, M., additional, Kroczka, S., additional, Salomons, G., additional, Struys, E., additional, and Jóźwiak, S., additional
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- 2008
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6. [Cytokines as a marker of the different paroxysmal sleep events in children].,Cytokiny jako obwodowy marker napadowych zaburzeń snu o róznej etiologii u dzieci
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Kaciński, M., Zajac, A., Skowronek-Bała, B., Biedrón, A., Bogusława Budziszewska, and Leśkiewicz, M.
7. Effects of neurosteroids on neuronal survival: Molecular basis and clinical perspectives
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Leśkiewicz, M., Bogusława Budziszewska, Basta-Kaim, A., Zajaç, A., Kaciński, M., and Lasón, W.
8. Pseudo-epileptic seizures in children are not associated with enhanced plasma level of allopregnanolone
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Kaciński, M., Leśkiewicz, M., Jaworska-Feil, L., Zajac, A., Kubik, A., Bogusława Budziszewska, and Lasoń, W.
9. Upstream Stimulating Factor 1 (USF-1) Gene Polymorphisms and the Risk, Symptoms, and Outcome of Pediatric Ischemic Stroke.
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Balcerzyk A, Niemiec P, Iwanicki T, Nowak T, Kopyta I, Emich-Widera E, Pilarska E, Pienczk-Ręcławowicz K, Kaciński M, Wendorff J, Górczyńska-Kosiorz S, Grzeszczak W, and Żak I
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- Adolescent, Adult, Brain Ischemia complications, Brain Ischemia physiopathology, Case-Control Studies, Child, Child, Preschool, Disease Progression, Dysarthria etiology, Dysarthria genetics, Dysarthria physiopathology, Epilepsy etiology, Epilepsy genetics, Epilepsy physiopathology, Female, Follow-Up Studies, Genetic Association Studies, Humans, Infant, Intellectual Disability etiology, Intellectual Disability genetics, Intellectual Disability physiopathology, Male, Stroke complications, Stroke physiopathology, Young Adult, Brain Ischemia genetics, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Stroke genetics, Upstream Stimulatory Factors genetics
- Abstract
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., (Copyright © 2018. Published by Elsevier Inc.)
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- 2018
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10. The rs10757278 Polymorphism of the 9p21.3 Locus in Children with Arterial Ischemic Stroke: A Family-Based and Case-Control Study.
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Niemiec P, Balcerzyk A, Iwanicki T, Emich-Widera E, Kopyta I, Nowak T, Pilarska E, Pienczk-Ręcławowicz K, Kaciński M, Wendorff J, Gorczynska-Kosiorz S, Trautsolt W, Grzeszczak W, and Zak I
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- Adolescent, Age of Onset, Brain Ischemia diagnosis, Brain Ischemia epidemiology, Case-Control Studies, Child, Child, Preschool, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Homozygote, Humans, Male, Paresis epidemiology, Paresis genetics, Pedigree, Phenotype, Poland epidemiology, Risk Factors, Stroke diagnosis, Stroke epidemiology, Brain Ischemia genetics, Chromosomes, Human, Pair 9, Genetic Loci, Polymorphism, Single Nucleotide, Stroke genetics
- Abstract
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., (Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.)
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- 2017
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11. A case report of an adolescent with cluster headaches following neck trauma: Coincidence or trigger?
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Biedroń A, Kaciński M, Steczkowska M, and Świerczyńska A
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- Adolescent, Amines therapeutic use, Cluster Headache rehabilitation, Cyclohexanecarboxylic Acids therapeutic use, Drug Therapy, Combination, Flunarizine therapeutic use, Follow-Up Studies, Gabapentin, Humans, Interdisciplinary Communication, Intersectoral Collaboration, Male, Neck Injuries rehabilitation, Recurrence, Retreatment, Wounds, Nonpenetrating rehabilitation, gamma-Aminobutyric Acid therapeutic use, Cluster Headache etiology, Neck Injuries complications, Wounds, Nonpenetrating complications
- Abstract
Posttraumatic headaches usually have tension-type or migraine-like characteristics. A correlation between head trauma and cluster headaches (CH) has been previously reported. CH in children are rare and require thorough differential diagnosis. We present an original case of a 15-year-old boy with cluster headaches associated with allodynia probably evoked by a neck trauma. Severe headache attacks started one month after neck trauma. At the beginning clinical presentation of our patient's headaches was very misleading. Headaches were bilateral and associated with infection. Initial diagnosis of sinusitis was made. During further observation headaches have become unilateral with typical for CH associated symptoms and additionally with allodynia. Other causes of secondary CH like cervicogenic headaches, brain tumor and vascular malformation have been excluded. The boy has undergone prophylactic treatment based on flunarizine and gabapentin with good result. Possible pathogenesis of our patient's headaches has been proposed and diagnostic traps discussed., (Copyright © 2017 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)
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- 2017
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12. [The links between neuropsychology and neurophysiology].
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Stolarska-Weryńska U, Biedroń A, and Kaciński M
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- Anxiety Disorders therapy, Depressive Disorder therapy, Electroencephalography, Electromyography, Evoked Potentials, Humans, Neurophysiology methods, Neuropsychology methods, Psychotherapy
- Abstract
Aim: The aim of the study was to establish current scope of knowledge regarding associations between neurophysiological functioning, neuropsychology and psychoterapy., Material and Methods: A systematic review was performed including 93 publications from Science Server, which contains the collections of Elsevier, Springer Journals, SCI-Ex/ICM, MEDLINE/PubMed, and SCOPUS. The works have been selected basing on following key words: 'neuropsychology, neurocognitive correlates, electrodermal response, event related potential, EEG, pupillography, electromiography' out of papers published between 2004-2015., Results: Present reports on the use of neurophysiological methods in psychology can be divided into two areas: experimental research and research of the practical use of conditioning techniques and biofeedback in the treatment of somatic disease. Among the experimental research the following have been distinguished: research based on the startle reflex, physiological reaction to novelty, stress, type/amount of cognitive load and physiological correlates of emotion; research on the neurophysiological correlates of mental disorders, mostly mood and anxiety disorders, and neurocognitive correlates: of memory, attention, learning and intelligence. Among papers regarding the use of neurophysiological methods in psychology two types are the most frequent: on the mechanisms of biofeedback, related mainly to neuro- feedback, which is a quickly expanding method of various attention and mental disorders'treatment, and also research of the use of conditioning techniques in the treatment of mental disorders, especially depression and anxiety. A special place among all the above is taken by the research on electrophysiological correlates of psychotherapy, aiming to differentiate between the efficacy of various psychotherapeutic schools (the largest amount of publications regard the efficacy of cognitive-behavioral psychotherapy) in patients of different age groups and different diagnosis.
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- 2016
13. [Neurophysiological methods in evaliuation of neurorehabiltation in children].
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Świerczyńska A, Kłusek R, and Kaciński M
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- Adolescent, Child, Child, Preschool, Evoked Potentials, Female, Guillain-Barre Syndrome diagnosis, Guillain-Barre Syndrome rehabilitation, Humans, Male, Treatment Outcome, Electrodiagnosis methods, Neurological Rehabilitation, Neurophysiology
- Abstract
The authors reviewed neurophysiological methods, which are used in the evaluation of children referred for neurorehabilitation. Rehabilitation techniques which may stimulate or provoke pathological changes in EEG must be ruled out. Electrophysiological and clinical improvement allow for the extension and intensification of rehabilitation. Normal EEG pattern ensures the safe use of techniques consisting of neuromuscular re-education or passive verticalisation, electrotherapy and thermotherapy. Quantitative and qualitative assessment of cognitive impairment is based on neuropsychological tests and endogenous evoked potentials (most often P300). Presence of cognitive dysfunction needs the use of neuropsychological and neurologopedic therapy. Based on results of exogenous evoked potentials appropriate neurorehabilitation program (physiotherapy, kinezytherapy) can be determined and clinical outcome predicted. EMG allows appropriate usage of applications, patterns and principles in the PNF method (such as compression, stretching, resistance), adapting them optimally to the possibility of a child. ENG estimates conduction in motor and sensory nerves. Based on the results nerve impairment can be localized, severity and character of damage estimated (demyelinating, axonal or complex) and course of the disease and treatment monitored. Short characteristics of 37 children with Guillain-Barre syndrome referred for rehabilitation was presented. Special attention was drawn to floppy infants. Results of neuroelectrophysiological examinations determine suitable rehabilitation program adjusted to the course of central nervous system impairment.
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- 2016
14. [A short history of pediatric neurology in Jagiellonian University].
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Kaciński M
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- History, 20th Century, History, 21st Century, Poland, Hospitals, University history, Neurology history, Pediatrics history
- Abstract
The author reminded preclinical years and the work of children's neu- rologists at that time. And next he de- scribed the work of people which from creating the Department of Pediatric Neurology in 1996 created structures of the Department, its 6 Laboratories and the Outpatients Clinic. From 2008 the Department was a part a Chair of Pediatric and Adolescent Neurology, from here the Author also checked teaching and scientific activity of the Chair, the Department, and 2 academic Laboratories of the Neurophysiology and the Clinical Electrophysiology. He pointed at effective efforts for financed research projects.
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- 2016
15. [P300 potential in chldren with psychogenic nonepileptic events and tension headache].
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Steczkowska M, Stolarska-Weryńska U, Fiederer K, and Kaciński M
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- Adolescent, Attention, Child, Evoked Potentials, Auditory, Female, Humans, Male, Reaction Time, Seizures psychology, Seizures therapy, Tension-Type Headache therapy, Treatment Outcome, Cognitive Behavioral Therapy, Event-Related Potentials, P300, Seizures physiopathology, Tension-Type Headache physiopathology
- Abstract
Introduction: Psychotherapy is being used as the primary treatment in nonepileptic psychogenic seizures and tension headaches in children. Children's intelectual functioning is related to certain endogenous neurophysiological parameters., Aim: The goal of this study was to establish whether the endogenous potential P300 is different in children with nonepileptic psychogenic events and with tension headaches, and whether it changes under the influence of the cognitive-behavioral psychotherapy., Material and Methods: The study included a group of 47 children: 20 with nonepileptic psychogenic seizures (18 girls and 2 boys), aged 11.09-17.11 years, and 27 children with tension headache (25 girls and 2 boys), aged 10.11-17.11 years. The P300 potential was induced using an auditory stimulus. The reaction time, the amount of mistakes and the percentage of attention focus was measured in all children. All children attended 8-10 psychotherapy sessions. The P300 potential was registered before and after the course of therapy, and additionally in both cycles also after a 3 minutes hyperventilation., Results: Medium P300 parameters were closer to normal in the group of children with tension headaches rather than in the group with nonepileptic seizures. The shorter was the reaction time in the first measurement, the higher the attention score and the shorter the reaction time in the second measurement - this was visible in the results of children with nonepileptic seizures, in contrast to children with tension headaches. The use of hyperventilation caused a noticeable extension of the reaction time in the P300 measurement, with other components unchanged (mistake count and percentage of attention focus)., Conclusion: The endogenous potential P300 does vary, although on a statistically insignificant level, in groups of children with tension headaches and nonepileptic seizures.
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- 2016
16. [Bell's palsy in malopolska's children in 2010-2014 years].
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Rogalska E, Skowronek-Bała B, Świerczyńska A, and Kaciński M
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- Bell Palsy etiology, Bell Palsy pathology, Bell Palsy therapy, Child, Child, Hospitalized, Craniocerebral Trauma complications, Female, Hospitals, University, Humans, Magnetic Resonance Imaging, Male, Poland, Recurrence, Seasons, Sex Distribution, Tomography, X-Ray Computed, Bell Palsy epidemiology, Facial Nerve pathology, Infections complications
- Abstract
Background: Peripheral facial nerve palsy (Bell' palsy, BP) is a not rare diseases in children, being the most common acquired mononeuropathy., Aim: The authors of this study wanted to determine whether the occurrence and course of paralysis changed in the past 5 years (2010-2014)., Materials and Methods: The study involved Lesser Poland region, where the majority of children with paralysis are hospitalized at the Pediatric Neurology Department of University Children's Hospital in Krakow. These children in subsequent years were admitted to our department without any limitations. A review of clinical documentation of 125 patients, in terms of demographics, the coexistence of other diseases, seasonality, the degree of paralysis, location of paralysis, the prevalence of the recurrence was made. Changes in the structure of the nerve VII in MRI and CT, pharmacological treatment, applied rehabilitation, the degree of improvement and time of hospitalization were analyzed., Results: Similar distribution of occurrence and gender of children with BP in Lesser Poland region within 5 years were observed. The predominance of the girls resulted from demographic composition of the population. BP occurred most frequently in summer and winter. In more than half of children BP occurred in the course of acute systemic infection or craniofacial infection and in 5/125 BP followed head injury. Children with infections required antibiotic therapy. Left-sided paralysis was found in the majority of children and almost half of patients needed protection of the cornea of the eye (significant degree). In 12% of children structural changes within the facial nerve were found. In these children antiviral treatment was used and hospitalization time was more than 20 days while in the majority of children hospitalization lasted 15 days. In 8 (6.4%) children with recurrent BP kinezytherapy, electrical stimulation and laser therapy were applied. Steroid therapy was not used. Only 7/125 chil. dren had mild impairment of the eye closing at the discharge and the others received nearly complete recovery., Conclusions: Inflammatory etiology is the most common in children with BP. BP occurs more often in the summer and winter. Severity of paralysis was significant in more than half of hospitalized children. Children with structural changes within the nerve VII required longer hospitalization and comprehensive treatment.
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- 2016
17. [The influence of cognitive-behavioral therapy on the P300 potential in children with psychogenic nonepileptic seizures and tension headache].
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Stolarska-Weryńska U, Steczkowska M, and Kaciński M
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- Adolescent, Attention, Child, Evoked Potentials, Auditory, Female, Humans, Hyperventilation, Male, Reaction Time, Seizures psychology, Seizures therapy, Surveys and Questionnaires, Tension-Type Headache therapy, Treatment Outcome, Cognitive Behavioral Therapy, Event-Related Potentials, P300, Seizures physiopathology, Tension-Type Headache physiopathology
- Abstract
Unlabelled: Explaining associations between neurophysiological and neuropsychological parameteres in children and improving the measurement methods would lead to a better understanding of the pathogenesis and course of psychosomatic disease. Goal: clinical assessment of the efficacy of cognitive-behavioral therapy in the treatment of psychogenic no- nepileptic seizures and tension type headaches in children. Determining the influence of cognitive behavioral therapy on the cognitive P300 potential and whether P300 parameters in children correlate with neuropsychological parameters., Material and Methods: 20 children with nonepileptic psychogenic seizures and 30 children with tension type headaches, aged 11.3 - 17.11 years. The final diagnosis was made in the Paediatric Neurology Clinic. The P300 examination was performed before/after therapy, with/without hyperventilation. A fixed structure therapy was implemented (10 sessions, 90 minutes each), during two weeks of hospitalization or in an outpatient clinic (9 children with tension type headache). The psychological assessment comprised of temperament questionnaires, auditory and visual memory trials, executive function and attention trials, and in some cases also intelligence testing., Results: More significant correlations were found in children with psychogenic seizures: attention parameters correlated negatively with reaction time, and this correlation tended to fade in the second examination, after psychotherapy. In children with tension type headache a statistically insignificant tendency was found of a positive correlation between those parameters. Medium P300 parameteres in this group were better. In 17/20 of children with psychogenic seizures a clinical improvement was observed, in 3 children the symptoms persisted in a 6 month follow up, but of a lower frequency. In 11/27 of chil- dren with tension headache the symptoms persisted, also with a lower frequency., Conclusion: cognitive-behavioral therapy is effective in the reduction of symptoms in many cases of psychogenic seizures and chronic tension type headache.
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- 2016
18. [Characteristics of ischemic stroke in children in the years 1968-1998 and 2010-2015].
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Witek I, Kroczka S, and Kaciński M
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- Adolescent, Angiography, Brain Ischemia complications, Brain Ischemia therapy, Child, Child, Preschool, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Paralysis etiology, Stroke complications, Stroke therapy, Tomography, X-Ray Computed, Brain Ischemia diagnosis, Stroke diagnosis
- Abstract
Background: Ischemic strokes in children are rare. The etiology and risk factors for ischemic stroke in children and adolescence differ from those typical in adults. Clinical symptoms depend on the location, extent of damage of the central nervous system and age. The aim of the study was to compare the clinical picture of ischemic stroke in children at two periods., Material and Methods: The study included children who had a stroke: 32 children (group I) in the years 1968-1998 and 27 children (group II) in 2010-2015. In each case medical history, physical and neurological examination, laboratory tests and neuroimaging were taken. To determine the location of ischemia in children The Oxford Community Stroke Project classification was used. To determine the score of hemiparesis the Ashworth scale was used., Results: Pregnancy, delivery, neonatal period and neurological history in the majority of children enrolled to the study, was unbounded. Etiology of stroke in first group was found in 20 children. Diagnosis of ischemic stroke was made on the basis of angiography in 13 children, while the remaining 19 based on head CT. TACI were found in 11 children, while PACI had 21 children. In the Ashworth scale I score of paralysis was observed in 14 children; 2 score in 5 children. 3 score had 11 children and 2 children 4 score of paralysis. In the second group, the etiology of stroke was found in 6 children. Ischemic stroke in all children was diagnosed based on CT scans. Additionaly, 24 children had MRI, 4 children had CT angiography and in 5 children MRA. TACI was diagnosed in 3 children, in the next 21 children PACI and POCI in other 3 children. The Ashworth Scale score 1 paralysis were observed in 8 children and score 2 at 16. 2 children had paresis score 3, in 1 paralysis had score 4. No child in group I and II, had hemorrhagic stroke. In the pharmacological treatment of the acute phase of stroke steroidotherapy and diuretics were used, in children with infection antibiotic therapy was introduced. Antithrombotic therapy was administered in 2 children. Neuroprotective treatment (piracetam) and rehabilitation therapy was used. Children with ischemic stroke in group I were hospitalized an average of 80 days. Hospitalization time in group II was an average of 23 days., Conclusions: 1. In spite of dynamic development of laboratory diagnosis detection of the etiology of ischemic stroke in children has not improved. 2. Computed tomography is still a primary diagnostic tool in the diagnosis of stroke in children. 3. In both groups of children hospitalization in the years 1968-1998 and 2010-2015 clinical consequences after ischemic were observed. 4. Majority of children after ischemic stroke has a small degree of paralysis. 5. Better availability of outpatient multidisciplinary rehabilitation treatment enabled significantly shortened hospitalization of children in 2010-2015.
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- 2016
19. [Exogenous evoked potentials in adolesccents with muftiple sclerosis].
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Kroczka S, Steczkowska M, and Kaciński M
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- Adolescent, Female, Humans, Male, Multiple Sclerosis, Relapsing-Remitting physiopathology, Neurologic Examination, Evoked Potentials, Multiple Sclerosis, Relapsing-Remitting diagnosis
- Abstract
Introduction: Multiple sclerosis (MS) is a chronic inflammatory and demyelinating disease of the central nervous system. The disease usually affects young people, with a peak onset between the ages of 20 and 40, although it may also occur in early childhood. MS is one of the most common reasons of disability in young people. Aim of the study. The aim of the study was a neurophysiological characterisation of patients with relapsing-remitting MS (RRMS) eligible to receive an., Material and Methods: In this study 23 patients have been included. According to initial symptoms two categories of patients were identified: in one group [group 1] (12123) there were patients with focal signs such as motor andlor sensory abnormalities while the second one [group 2] (11123) consisted of patients with retrobulbar optic neuritis., Results: There were no significant differences in VEP latencies and amplitudes in both I and 2 group. In both groups a significant latency prolongation as well as P100 amplitude decrease has been observed in comparison to the control group. Furthermore, the study has shown that the average latencies of N75 and N135 in group 2 were prolongated when compared to the control group. In BAEP examination no statistically relevant differences have been observed between average latencies and interlatencies in group I and group 2 as well as between the two test groups and control group. In SSEP examination group I has demonstrated a substantial latency prolongation of P14, NIB and N20 when compared to the control group, and the same result for P14, N20, P25 and CCT has been detected in group 2. The average amplitudes of all waves in group I were insignificantly lower than in the control group. In group 2 an insignificant decrease of amplitudes P9 and P18 from the control group has been noticed. In contrast, P25 amplitude was significantly lower., Conclusions: I. Visual evoked potentials test is an effective neurophysiological method in a diagnosis of subclinical focal demyelination in CNS. 2. Auditory pathway is highly resistant to demyelination processes in CNS. 3. The presence of changes in somatosensory evoked potentials indicates a demand for further precise diagnosis of spinal location of MS.
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- 2016
20. [Neurophysiological parameters in myasthena gravis in children in diagnostic and therapeutic view].
- Author
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Kroczka S, Stasiak K, and Kaciński M
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- Adolescent, Age of Onset, Azathioprine therapeutic use, Child, Combined Modality Therapy, Diagnosis, Differential, Electrodiagnosis, Female, Humans, Male, Myasthenia Gravis epidemiology, Myasthenia Gravis therapy, Neurologic Examination, Plasmapheresis, Steroids therapeutic use, Treatment Outcome, Myasthenia Gravis diagnosis, Pyridostigmine Bromide therapeutic use
- Abstract
Background: Myasthenia gravis (MG) is an autoimmunologic disorder. It is characterized by various clinical symptoms and their dependency upon the exertion and the rest as well., Material and Methods: Between 2002-20014 in the Neurophysiology Laboratory at the Chair of Pediatric and Adolescent Neurology, Jagiellonian University in Krakow, the electrophysiological repetitive nerve stimulation study were performed in 44 children. The clinical picture and positive electrophysiological test were the ground to diagnose MG in 19 of them (12 girls and 7 boys). The mean age at onset of MG in the examined group was 12.8 years. In 5 patients the diagnosis was completed using edrophonium test. In 14patients the titer of AchRAb was also tested. In 18 patients with MG the radiological examinations of the chest were performed. In 14/19 patients with MG the control electrophysiological testing was performed 2 to 8 months after the first one., Results: The gen-ralized MG was diagnosed in 14 patients, and ocular in 2 of them. The amplitude of electro-physiological testing was normal during the first response in all patients, but the decrement of amplitude 4:1 in patients with MG was 26% to 88%. In 3 patients with MG the persisted thymus, while in 7 hypertrophy of thymus, in 2 thymoma nad inl thyinflammation of the thymus was detected. In 5 children the result of chest examination was normal. Among 5/8 patients (62.5%) with positive AChRAb, in one ocular MG was diagnosed, in the other 7 generalized MG. The titer of AChRAb was between 0.4 and 30.8 nmol/l (mean 9.44 nmol/l), and the decrement of amplitude 4:1 was 22% to 58%.. In the treatment pirydostygmine bromide (Mestinon) was used in all children, however in 4 of them together with azathioprine, and in 7 with steroids. In the treatment of myasthenic crisis in 5 patients plasmapheresis was performed. In 42% of patients thymectomy was performed during the first year after diagnosis. The clinical remission was succeed in 90,9% patients. The electrophysiological control examination detected the decrement of amplitude 4:1 in 1% to 80% (mean 36%). The electrophysiological remission, correlating with clinical remission was achieved in 2 patients. In 6/10 patients with clinical remission, the decrement of amplitude 4:1 in electrophysiological examination continued to be at the level similar to initial examination. In 1 patient remission was complete allowing significant reduction of doses of Mestinon, even though in the electrophysiological test the decrement was 80%., Conclusions: (1) Among hospitalized children, the generalized myasthenia was the most common. (2) Neurophysiological studies plays still fundamental role in diagnostic methods in the diagnosis of myasthenia gravis in children. (3) The correlation of the clinical state and electrophysiological results was not established.
- Published
- 2016
21. Seizure-Precipitating Factors in Relation to medical Recommendations: Especially Those Limiting Physical Activity.
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Stanuszek A, Wnękowicz E, Kuźniar E, Krakowska K, Gergont A, and Kaciński M
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- Adolescent, Child, Child, Preschool, Female, Hospitalization, Humans, Infant, Male, Precipitating Factors, Sports physiology, Motor Activity physiology, Seizures physiopathology, Seizures therapy
- Abstract
Identification of factors precipitating epileptic seizures should always have practical implications and should always result in special recommendations given to patients. The purpose of our study is to analyze the relation between seizure-triggering factors and restrictive recommendations involving limitation of physical activity in particular. The research group consisted of 407 children hospitalized due to seizures. Their precipitants were identified in 27.5% of the patients. The most common included infection/fever, stress, and flashing lights. Although sport was documented as a precipitant in only 3.4% of all children, 8.1% of the investigated group were recommended to limit physical activity. As some episodes of epileptic seizures are reported to be provoked by sport, multiple restrictions are imposed on children. In the light of the worldwide academic literature and the present study, the recommendation of limiting sports activity is no longer supported., (© The Author(s) 2015.)
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- 2015
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22. Methylenetetrahydrofolate reductase gene A1298C polymorphism in pediatric stroke--case-control and family-based study.
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Balcerzyk A, Niemiec P, Kopyta I, Emich-Widera E, Pilarska E, Pienczk-Ręcławowicz K, Kaciński M, Wendorff J, and Żak I
- Subjects
- Adolescent, Alleles, Case-Control Studies, Child, Child, Preschool, Family, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Hyperhomocysteinemia complications, Hyperhomocysteinemia genetics, Infant, Male, Polymorphism, Restriction Fragment Length, Stroke enzymology, Methylenetetrahydrofolate Reductase (NADPH2) genetics, Polymorphism, Genetic genetics, Stroke genetics
- Abstract
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., (Copyright © 2015 National Stroke Association. Published by Elsevier Inc. All rights reserved.)
- Published
- 2015
- Full Text
- View/download PDF
23. Epilepsy and electrophysiological findings in polish twins with glycogenosis type IIIb.
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Kroczka S, Biedroń A, and Kaciński M
- Subjects
- Anticonvulsants therapeutic use, Cerebral Cortex drug effects, Cerebral Cortex physiopathology, Child, Preschool, Combined Modality Therapy, Diet, Carbohydrate-Restricted, Dietary Proteins administration & dosage, Diseases in Twins diagnosis, Diseases in Twins therapy, Epilepsy diagnosis, Epilepsy therapy, Female, Follow-Up Studies, Genetic Carrier Screening, Glycogen Storage Disease Type III diagnosis, Humans, Infant, Infant, Newborn, Poland, Spasms, Infantile diagnosis, Spasms, Infantile therapy, Brain Mapping methods, Diseases in Twins genetics, Diseases in Twins physiopathology, Electroencephalography methods, Epilepsy genetics, Epilepsy physiopathology, Glycogen Storage Disease Type III genetics, Glycogen Storage Disease Type III physiopathology, Signal Processing, Computer-Assisted, Spasms, Infantile genetics, Spasms, Infantile physiopathology
- Abstract
Glycogen storage diseases are rare genetic disorders, mostly autosomal recessively inherited. Abnormal accumulation is because of the lack of one of the enzymes involved in glycogen metabolism. Neurological manifestation of the diseases involves muscle weakness and hypoglycemia-induced seizures. In this article, we present a history of twin sisters with unusual coincidence of glycogenosis type IIIb and epilepsy. Hypoglycemic background of seizures and organic changes of the central nervous system were excluded. Since the introduction of antiepileptic treatment, the patients have been seizure-free; however, paroxysmal electroencephalographic (EEG) changes have persisted. A high-protein and low-carbohydrate diet has protected them against hypoglycemia.
- Published
- 2014
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24. Alternating hemiplegia of childhood: new diagnostic options.
- Author
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Gergont A and Kaciński M
- Subjects
- Child, Humans, Hemiplegia epidemiology, Hemiplegia genetics, Hemiplegia physiopathology, Sodium-Potassium-Exchanging ATPase genetics
- Abstract
A syndrome of alternating hemiplegia of childhood (AHC) is a rare disorder first presented in 1971. AHC is characterized by transient episodes of hemiplegia affecting either one or both sides of the body. Age of onset is before 18 months and the common earliest manifestations are dystonic or tonic attacks and nystagmus. Hemiplegic episodes last minutes to days and the frequency and duration tend to decrease with time. Motor and intellectual development is affected, deficits may also develop later. Epileptic seizures occur in some patients. Neuroimaging of the brain usually reveals no abnormalities. The variability of individual clinical presentations and evolution of symptoms have made diagnosis difficult. Therefore the problems of misdiagnosis could account for the low prevalence of this syndrome. This paper hopes to present actual data on AHC, especially of the results of genetic research and new diagnostic tools., (Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)
- Published
- 2014
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25. Dilatation of Virchow-Robin spaces in children hospitalized at pediatric neurology department.
- Author
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Biedroń A, Steczkowska M, Kubik A, and Kaciński M
- Subjects
- Adolescent, Age Factors, Cerebral Arterial Diseases epidemiology, Child, Child, Preschool, Dystonia etiology, Dystonia pathology, Electroencephalography, Epilepsy epidemiology, Epilepsy pathology, Female, Headache etiology, Headache pathology, Hospitalization, Humans, Image Processing, Computer-Assisted, Infant, Magnetic Resonance Imaging, Male, Migraine Disorders etiology, Migraine Disorders pathology, Neurofibromatosis 1 etiology, Neurofibromatosis 1 pathology, Neurologic Examination, Poland epidemiology, Cerebral Arterial Diseases pathology, Cerebral Arteries pathology, Dilatation, Pathologic pathology, Pia Mater pathology, Subarachnoid Space pathology
- Abstract
Background and Purpose: Dilated Virchow-Robin spaces (dVRs) have been revealed by magnetic resonance imaging (MRI) in patients with various neurological disorders. However, their etiology and clinical importance have not been discovered yet. The aim of the study was to estimate dVRs occurrence in hospitalized children and determine dVRs localization and their association with different nervous system diseases., Material and Methods: Contrast-enhanced brain MRI examinations with the use of 1.5T GE device were performed in children with different diseases of nervous system, who were hospitalized at Pediatric Neurology Department, Chair of Children and Adolescent Neurology, Jagiellonian University in the years 2010-2011. The mean age of examined children was 11.58 years, and the studied group included 27 boys and 26 girls., Results: Within two years, MRI examinations of the brain were performed in 1348 children and dVRs were found in 53 of them (3.93%). Among children with dVRs, 15 were diagnosed with headache (28.3%) and 18 with epilepsy (33.96%). Other diagnoses were less frequent and occurred in 37.7%. Generalized dVRs and those localized in the subcortical nuclei were most frequently found., Conclusions: Higher incidence of dVRs was found in children with headache and epilepsy. No association was found between localization of dVRs and symptomatology of different nervous system diseases except for large dVRs probably due to the pressure on the surrounding tissues., (Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)
- Published
- 2014
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26. Neurofeedback therapy in patients with non pain syndromes of chronic and paroxysmal character-literature review and own experience.
- Author
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Kubik A and Kaciński M
- Subjects
- Chronic Disease, Humans, Syndrome, Asperger Syndrome therapy, Depressive Disorder therapy, Epilepsy therapy, Neurofeedback, Neurotic Disorders therapy, Personality Disorders therapy, Substance-Related Disorders therapy
- Abstract
Neurofeedback has been used in treatment of many other than pain clinical syndromes. This group includes chronic as well as paroxysmal syndromes previously treated pharmacologically. However due to non satisfactory results of this treatment introduction of non-pharmacological therapy has been examined. Observations from our 9-year experience of neurofeedback therapy used in children and adult patients with epilepsy, Asperger syndrome, depression, neurosis, personality disorders, drug addiction and other (not pain) syndromes have been presented in this paper. Positive influence of neurofeedback therapy on symptoms intensity, frequency, duration and social relations of treated patients has been confirmed by our own and other authors observations. Neurofeedback therapy has been tried by patients with other difficult life problems and has been effective in some of them. The effectiveness of the therapy has been confirmed by patients, their relatives and also by neurophysiological results. Additionally, preliminary results of neurofeedback therapy used in management of computer addiction in children and adolescents have been presented herein.
- Published
- 2013
27. Polymorphisms of genes encoding coagulation factors II, V, VII, and XIII in relation to pediatric ischemic stroke: family-based and case-control study.
- Author
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Kopyta IA, Emich-Widera E, Balcerzyk A, Niemiec P, Zak I, Pilarska E, Kaciński M, Wendorff J, Nowak T, Iwanicki T, Pienczk-Ręcławowicz K, and Pałatyńska K
- Subjects
- Adolescent, Alleles, Brain Ischemia complications, Case-Control Studies, Child, Child, Preschool, Factor V genetics, Factor VII genetics, Factor XIII genetics, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Infant, Male, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Prothrombin genetics, Stroke etiology, Blood Coagulation Factors genetics, Brain Ischemia genetics, Stroke genetics
- Abstract
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.
- Published
- 2012
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28. Level of S100B protein, neuron specific enolase, orexin A, adiponectin and insulin-like growth factor in serum of pediatric patients suffering from sleep disorders with or without epilepsy.
- Author
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Kaciński M, Budziszewska B, Lasoń W, Zając A, Skowronek-Bała B, Leśkiewicz M, Kubik A, and Basta-Kaim A
- Subjects
- Adolescent, Age Factors, Analysis of Variance, Biomarkers blood, Child, Child, Preschool, Diagnosis, Differential, Electroencephalography, Enzyme-Linked Immunosorbent Assay, Epilepsy diagnosis, Epilepsy physiopathology, Humans, Infant, Orexins, Parasomnias diagnosis, Parasomnias physiopathology, Polysomnography, Predictive Value of Tests, S100 Calcium Binding Protein beta Subunit, Adiponectin blood, Epilepsy blood, Insulin-Like Growth Factor I analysis, Intracellular Signaling Peptides and Proteins blood, Nerve Growth Factors blood, Neuropeptides blood, Parasomnias blood, Phosphopyruvate Hydratase blood, S100 Proteins blood
- Abstract
Background: Paroxysmal sleep disorders in children are important from both pathophysiological and clinical point of view. Correct diagnosis is crucial for further management. The aim of the present study was to identify peripheral markers of paroxysmal sleep disorders in children, which could improve diagnostics of these disorders. We compared serum levels of several putative biomarkers of neurological disorders, such as S100B protein, neuron specific enolase (NSE), orexin A, adiponectin, and insulin-like growth factor 1 (IGF-1) in pediatric patients suffering from sleep disturbances with those who additionally to parasomnia revealed also epilepsy., Methods: Fifty six children from 1 month to 18 years of age hospitalized in the Pediatric Neurology Clinic, Chair of Children and Adolescent Neurology, participated in this study. Polysomnographic diagnostics was indicated due to sleep disturbances. Examination was performed with the use of polysomnography and videoelectroencephalography Grass device. Blood samples were taken before registration of sleep, after 2.5 h of sleep or 0.5 h after occurrence of clinical seizures. Concentrations of S100B protein, NSE, orexin A, adiponectin, and IGF-1 were measured by specific ELISA methods., Results: The obtained data showed that serum S100B level was significantly increased in children with epilepsy and clinical seizure attacks as compared to patients with parasomnia only. Atendency to enhanced serum S100B level was also seen in epileptic children without clinical seizures during polysomnographic recording. The level of orexin A was significantly decreased in epileptic children without seizures as compared to the hormone level in parasomnic patients, but was elevated in patients who experienced seizures during polysomnographic examination. As S100B is regarded to be a marker of blood brain barrier leakage and astrocyte damage, the data suggest an increase in BBB permeability in epileptic children, especially during seizure fits. Furthermore, the enhanced S100B serum level without changes in NSE activity may be interpreted rather as an evidence of the elevated secretion of this protein during seizures than of the damage of brain tissue. In contrast to S100B and orexin A level, serum concentration of adiponectin and IGF-1 as well as NSE activity did not significantly differ between the studied groups., Conclusion: Out of the five putative biomarkers measured, blood concentration of S100B and orexin A may be helpful in differentiating parasomnic pediatric patients with and without epilepsy.
- Published
- 2012
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29. Impact of the -174G/C interleukin-6 (IL-6) gene polymorphism on the risk of paediatric ischemic stroke, its symptoms and outcome.
- Author
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Balcerzyk A, Nowak M, Kopyta I, Emich-Widera E, Pilarska E, Pienczk-Ręcławowicz K, Kaciński M, Wendorff J, and Zak I
- Subjects
- Adolescent, Child, Child, Preschool, Female, Genotype, Humans, Infant, Male, Polymorphism, Restriction Fragment Length, Risk Factors, Brain Ischemia genetics, Genetic Predisposition to Disease genetics, Interleukin-6 genetics, Polymorphism, Single Nucleotide, Stroke genetics
- Abstract
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.
- Published
- 2012
30. The plasminogen activator inhibitor-1 gene polymorphism in determining the risk of pediatric ischemic stroke--case control and family-based study.
- Author
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Balcerzyk A, Żak I, Emich-Widera E, Kopyta I, Iwanicki T, Pilarska E, Pienczk-Ręcławowicz K, Kaciński M, Wendorff J, and Połatyńska K
- Subjects
- 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 etiology, Family Health, Genetic Predisposition to Disease, Plasminogen Activator Inhibitor 1 genetics, Polymorphism, Genetic genetics, Stroke genetics
- Abstract
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., (Georg Thieme Verlag Stuttgart · Newyork.)
- Published
- 2011
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31. Effects of neurosteroids on the human corticotropin-releasing hormone gene.
- Author
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Budziszewska B, Zając A, Basta-Kaim A, Leśkiewicz M, Steczkowska M, Lasoń W, and Kaciński M
- Subjects
- Animals, Cell Line, Tumor, Chloramphenicol O-Acetyltransferase genetics, Colforsin pharmacology, Corticotropin-Releasing Hormone metabolism, Dose-Response Relationship, Drug, Extracellular Signal-Regulated MAP Kinases metabolism, Genes, Reporter, Humans, Hypothalamo-Hypophyseal System metabolism, Mice, Mitogen-Activated Protein Kinases metabolism, Neuroblastoma genetics, Neuroblastoma pathology, Neurotransmitter Agents antagonists & inhibitors, Neurotransmitter Agents metabolism, Pituitary-Adrenal System metabolism, Plasmids, Promoter Regions, Genetic, Transcription, Genetic drug effects, Transfection, Corticotropin-Releasing Hormone genetics, Gene Expression Regulation drug effects, Neurotransmitter Agents pharmacology
- Abstract
Increased activity of hypothalamic-pituitary-adrenal (HPA) axis and hypersecretion of corticotropin-releasing hormone (CRH) are known to be important factors in pathogenesis of some stress-related diseases. Some neurosteroids exert anxiolytic and antidepressant effects probably by inhibition of HPA axis activity. The aim of our study was to find out if neurosteroids can directly affect human CRH gene transcription. The effect of allopregnanolone (ALLO), allotetrahydrodeoxycorticosterone (THDOC), pregnenolone (PGL), PGL sulfate (PGL-S), dehydroepiandrosterone (DHEA) and DHEA sulfate (DHEA-S) on CRH expression was determined in differentiated Neuro-2A cells stably transfected with plasmid containing a fragment of human CRH promoter (-663 to + 124 bp) linked to the chloramphenicol acetyltransferase (CAT) reporter gene. It was found that PGL (0.3-30 μM), ALLO (1-30 μM) and THDOC (1-30 μM) present in the culture medium for 5 days in the concentration-dependent manner inhibited CRH-CAT activity. These neurosteroids also inhibited forskolin-stimulated CRH gene transcription with similar potency. In contrast, PGL-S, DHEA and DHEA-S in a concentration from 0.01 to 10 μM had no effect on basal and forskolin-stimulated CRH activity. Further experiments revealed that wortmannin (an inhibitor of phosphatidylinositol 3-kinase; PI3-K) at concentrations of 0.01 and 0.02 μM did not change the inhibitory effect of ALLO (3 μM) and PGL (1 μM) on CRH gene transcription. Moreover, ALLO (3 μM) and PGL (1 μM) present in the culture medium for 5 days did not change the amount of active, phosphorylated form of protein kinase B (PKB, Akt) and extracellular signal-regulated kinase (ERK). The obtained results indicate that PGL, ALLO and THDOC inhibited basal and forskolin-induced CRH gene promoter activity in the differentiated Neuro-2A cells and that these effects did not depend on the activation of PI3-K/Akt and ERK-MAPK pathways.
- Published
- 2010
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32. The C242T polymorphism of the gene encoding cytochrome b-245 alpha is not associated with paediatric ischaemic stroke: family-based and case-control study.
- Author
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Niemiec P, Zak I, Emich-Widera E, Balcerzyk A, Kopyta I, Nowak T, Wendorff J, Pałatyńska K, Kaciński M, Pienczk-Ręcławowicz K, and Pilarska E
- Subjects
- Adolescent, Alleles, Brain Ischemia prevention & control, Case-Control Studies, Child, Child, Preschool, Female, Gene Frequency, Humans, Infant, Male, Reverse Transcriptase Polymerase Chain Reaction, Risk Factors, Stroke prevention & control, Brain Ischemia genetics, Genetic Predisposition to Disease genetics, NADPH Oxidases genetics, Polymorphism, Genetic, Stroke genetics
- Abstract
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.
- Published
- 2010
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33. Diagnostic difficulties of paroxysmal symptoms in a boy with Parry-Romberg syndrome.
- Author
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Kaciński M, Biedroń A, Zajac A, and Steczkowska M
- Subjects
- Adolescent, Anticonvulsants therapeutic use, Carbamazepine analogs & derivatives, Carbamazepine therapeutic use, Diagnosis, Differential, Facial Asymmetry diagnosis, Facial Hemiatrophy complications, Facial Hemiatrophy drug therapy, Headache etiology, Humans, Male, Oxcarbazepine, Seizures diagnosis, Seizures drug therapy, Seizures etiology, Facial Hemiatrophy diagnosis, Syringomyelia diagnosis
- Abstract
Parry-Romberg syndrome is characterized by progressive unilateral facial atrophy affecting subcutaneous tissue, cartilage and bone structures. Headache attacks and epilepsy are commonly associated with this syndrome but the underlying pathophysiology is still unknown. A case of a 12-year-old boy with Parry-Romberg syndrome and syringomyelia suffering from severe headache attacks and epileptic seizures is reported herein. Headache attacks were associated with bilateral autonomic symptoms and hyperventilation and were usually followed by complex partial and sometimes by secondary generalized tonic seizures. Detailed neuroimaging examinations were performed (magnetic resonance imaging [MRI] of the head, orbits, and spinal cord, MR angiography, and MR spectroscopy of the cerebellum). The EEG pattern revealed localized discharges contralaterally to the affected side. Antiepileptic treatment with carbamazepine was instituted with minimal effect. Modification of treatment (replacement with oxcarbazepine) was successful. In the reported patient interesting correlation of headache attacks, autonomic symptoms and epileptic seizures was observed. Additionally we believe it is the first report of coincident syringomyelia and Parry-Romberg syndrome.
- Published
- 2010
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34. [Structural CNS abnormalities responsible for coincidental occurrence of endocrine disorders, epilepsy and psychoneurologic disorders in children and adolescents].
- Author
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Starzyk J, Kwiatkowski S, Kaciński M, Kroczka S, and Wójcik M
- Subjects
- Adolescent, Causality, Child, Comorbidity, Female, Humans, Incidence, Infant, Male, Retrospective Studies, Risk Factors, Brain Diseases diagnosis, Brain Diseases epidemiology, Endocrine System Diseases epidemiology, Epilepsy epidemiology, Mental Disorders epidemiology
- Abstract
Background: In the population of children and adolescents, epilepsy affects 0.5-1% of individuals; approximately 3% of general population suffer from non-epileptic seizures, while endocrine disorders are several times more frequent. All of the above factors result in a relatively common non-accidental occurrence of endocrine disorders, epilepsy and neuropsychiatric disorders. However, structural central nervous system (CNS) abnormalities that cause both endocrine and neurologic disorders seem to be markedly less common. No reports addressing this problem are available in the literature., Aim of the Study: 1) Assessment of the frequency of non-coincidental occurrence of epilepsy and endocrine disorders in inpatients and outpatients with structural CSN abnormalities managed in Department Endocrinology. 2) Presentation of diagnostic and therapeutic difficulties in these patients, and 3) An attempt at defining a common etiology of both disorders., Material and Methods: A retrospective analysis of the medical records of the patients with coincidence of endocrine disorders and epilepsy and psycho-neurologic disorders (treated in Chair and Department of Children's and Adolescents Neurology, University Children's Hospital of Krakow or in another pediatric neurology center) and with organic CNS abnormalities (treated or followed up as inpatients and outpatient of Department of Pediatric Surgery, Children's University Hospital of Krakow, was performed. The patients were selected from among several thousands of children treated as inpatients and outpatients of the Department., Results: Various forms of symptomatic and idiopathic epilepsy and other psychoneurological disorders (disorders of behavior and emotions, obsession-compulsion syndromes, stereotypias, aggression, compulsive ideas and movements, anorexia or hypothalamic obesity) coincident with one or more endocrine disorders such as precocious or delayed puberty, multihormonal pituitary deficiency, panhypopituitarism and secondary hypothyroidism were detected in 42 patients with suprasellar arachnoid cyst (7 patients), septo-optic dysplasia (8 patients), craniopharyngioma (15 patients), glioma of the optic chiasm in neurofibromatosis type 1 (NF-1) (12 patients). There were no endocrine disorders in any of the ten patients with hamartoma of the hypothalamus and CPP. Endocrine and/ or neurological disorders did not resolve or were progressive after neurosurgery. Of 42 patients, a group of seven children representative for individual disorders was selected. In those patients, the etiology of both endocrine disorders, epilepsy and neuropsychiatric disorders was suspected to be common., Conclusion: 1. Various structural CNS abnormalities are the cause of concomitant epilepsy and endocrinopathy, although in some cases a direct impact of a genetic factor on the occurrence of both disorders or a mere coincidence cannot be ruled out. 2. Psychoneurological disorders usually precede the onset of endocrinopathy. 3. For this reason, MR or CT CNS imaging should be performed in any case of central neurological disorders, disorders of behavior, epilepsy, obsessive-compulsive syndrome, but also in patients with delayed psycho-motor development, delayed or accelerated growth and pubertal development. All of the above-mentioned manifestations may be symptoms of structural CNS abnormalities and their early treatment determines the child's future.
- Published
- 2010
35. [Clinical child's neurophysiology in Krakow].
- Author
-
Kaciński M
- Subjects
- Adolescent, Child, Electroencephalography history, Female, History, 20th Century, History, 21st Century, Humans, Hyperventilation diagnosis, Hyperventilation etiology, Male, Moyamoya Disease complications, Moyamoya Disease diagnosis, Poland, Diagnostic Techniques, Neurological history, Neurophysiology history, Pediatrics history
- Published
- 2010
36. [Specific aspects of child's electroneurography and electromyography: literature and own experience].
- Author
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Kroczka S, Kaciński M, and Steczkowska M
- Subjects
- Child, Child, Preschool, Humans, Infant, Infant, Newborn, Electromyography methods, Neuromuscular Diseases diagnosis
- Abstract
Background: Despite introduction of modern molecular diagnostics, electrophysiologic examinations still play an important role in the neuromuscular diseases diagnostics and in the disease course and convalescence process monitoring. EMG examination enables determination of location and character of peripheral impairment, establishment of neurogenic or myogenic impairment or neuromuscular transmission disorders and also determination if the process is acute or chronic, localized or generalized. EMG examination is also helpful in detection of subclinical pathology. In neurogenic processes it enables differentiation of spinal and peripheral nerve trunks impairment., Material and Methods: Electrophysiological demyelinization criteria commonly used in adults have limited application in children. In the youngest children electrodes with smaller surface and distance between the poles are used in conduction examination. This cause difficulties in interpretation of the obtained results and requires the use of own norms considering values obtained with the use of smaller stimulating and receiving electrodes. Many technical factors have to be considered in the correct evaluation of electroneurographic and electromyographic recordings, which in adults have significantly lower influence on the results interpretation. Normal EMG result in a small infant does not exclude myopathy especially congenital myopathy. On account of child anxiety usually accompanying the examination the scheme of EMG examination should be elastic., Results: Authors illustrated specificity of these problems in children with own results.
- Published
- 2010
37. [Familial epilepsy].
- Author
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Steczkowska M, Gergont A, Kroczka S, and Kaciński M
- Subjects
- Age Distribution, Child, Child, Preschool, Epilepsy, Generalized diagnosis, Epilepsy, Generalized epidemiology, Female, Hospitalization statistics & numerical data, Humans, Incidence, Infant, Male, Medical History Taking, Poland epidemiology, Sex Distribution, Epilepsy epidemiology, Epilepsy genetics
- Abstract
Background: Epilepsy is a chronic disease, with heterogeneous etiology, clinical spectrum and prognosis. Among many causes of epilepsy genetic factors and hereditary diseases with different inheritance mechanisms manifesting with epileptic seizures play an important role. Analysis of genealogy of families burdened with epilepsy, development of molecular and genetic tests may contribute to better understanding of mechanisms of epileptogenesis and more effective treatment of epilepsy., Aim of the Study: Research and analysis of epilepsy incidence in families of children hospitalized because of epilepsy., Material and Methods: The study included 18 children with diagnosed epilepsy and positive family history of epilepsy, hospitalized in the Department of Pediatric Neurology Chair of Pediatric and Adolescent Neurology in the years 2007-2009. Apart from thorough pregnancy and delivery history, brain imaging examinations (MR, CT) and inter seizure EEG recording were performed., Results: Positive family history of epilepsy was found in children at the age range from 1 month to 11 years. In the examined group predomination of older children (over 2 years of age) and girls (10/18) was observed. Epilepsy with generalized seizures was found in majority of patients from examined group. The siblings of the patients were the most often affected with the epilepsy., Conclusions: Positive family history of epilepsy in children with epilepsy is almost always associated with occurrence of generalized seizures. Even in twins different types of seizures may occur, which may result from structural brain lesions in one of them. In research of familial occurrence of epilepsy repetitive history taking and complementation is needed.
- Published
- 2010
38. [The pineal cyst in children with different central nervous system diseases].
- Author
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Zajac A, Skowronek-Bała B, Wesołowska E, and Kaciński M
- Subjects
- Adolescent, Brain Diseases diagnosis, Child, Child, Preschool, Chorionic Gonadotropin, beta Subunit, Human blood, Comorbidity, Cysts blood, Female, Humans, Incidence, Incidental Findings, Infant, Male, Poland epidemiology, Sex Distribution, Sex Factors, alpha-Fetoproteins analysis, Biomarkers, Tumor blood, Brain Diseases epidemiology, Cysts diagnosis, Cysts epidemiology, Epilepsy epidemiology, Headache epidemiology, Pineal Gland
- Abstract
Background: In the group of adult patients being diagnosed from different neurological complaints frequency of pineal cyst occurrence is estimated at 0,1-4,9%. Frequency of its occurrence in pediatric population is unknown, however it is regarded as a common lesion at this age, more frequent in girls and older children. This structural lesion is usually asymptomatic, without sequels and clinical complications. However, neoplastic lesions may also localize in pineal cyst., Aim of the Study: Characterization of pineal cysts found in children diagnosed from different neurological diseases., Material and Methods: 45 children at the age range from 14 months to 17 years were hospitalized in the Department of Pediatric Neurology Chair of Pediatric and Adolescent Neurology in the years 2006-2010. MR examination with contrast (with the use of Siemens device 1,5 T) revealed lesions in pineal gland defined as pineal cysts. Predominance of girls was observed in the group (33/45). Additionally older children between 10 and 15 years of age were dominating (27/ 45). In 24/45 children serum tumor markers AFP and betaHCG were determined. Examined group of patients with clinical symptoms which indicated necessity of MR examination performance was very heterogenic., Results: The diameter of pineal cyst was between 3-10 mm in 40/45 children, 13 mm in 2 children and 11 mm in 3 children (most often 4-5 mm in 18 children). Usually this lesion accompanied other congenital or acquired CNS disorders. In 1/3 of children included to the study, headaches were cause of brain MR examination. In 15 children brain MR examination was performed due to epileptic paroxysmal events. No positive values of tumor markers were found in any of examined children., Conclusions: 1. Pineal cysts are common structural lesions in children hospitalized from different neurological symptoms. 2. Pineal cysts were usually found in children diagnosed because of headaches and epilepsy, and these were the most often final diagnosis. 3. In the examined group children over the age of 10 years and female sex predominate. 4. It is suspected that in majority of hospitalized patients pineal cyst was an incidental finding, with no association with clinical symptoms.
- Published
- 2010
39. [Cytokines as a marker of the different paroxysmal sleep events in children].
- Author
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Kaciński M, Zajac A, Skowronek-Bała B, Biedrón A, Budziszewska B, and Leśkiewicz M
- Subjects
- Adolescent, Biomarkers metabolism, Child, Child, Preschool, Diagnosis, Differential, Epilepsy diagnosis, Epilepsy metabolism, Female, Humans, Infant, Male, Interleukin-6 metabolism, Interleukin-8 metabolism, Narcolepsy diagnosis, Narcolepsy metabolism
- Abstract
Background: Parasomnias in children manifest by unwanted behavior and various clinical picture. These disorders are associated with different sleep phases (REM, NREM) and sometimes threaten safety of children's sleep. They require differentiation with epileptic seizures because about 30% of epileptic seizures is associated with sleep. Some cytokines serum concentration changes were observed in sleep disturbances., Aim of the Study: The search for peripheral markers of paroxysmal sleep disorders in children, which would be more simple method for differentiating between parasomnias and epileptic seizures., Material and Methods: The study included 21 hospitalized children (17 with epilepsy and 4 with parasomnias) at the age range from 2 months to 14 years. Their 2,5-hour sleep was recorded with videoelectroencephalography. Blood samples were taken two times (before sleep and up to 30 minutes after seizure occurrence or after 2,5-hour registration without seizure). Cytokine concentration (IL-6 and IL-8) was determined in these samples. Statistical analysis of the obtained results was performed., Results: The arithmetic means of both cytokine concentrations did not differ significantly between both examined groups of children, before and after videoEEG performance. Statistically significant differences of mean cytokine concentrations were also not found in children from both groups, between samples after sleep registration and before videoEEG. Comparison of the arithmetic means of IL-6 and IL-8 concentrations after calculating all values before videoEEG and after sleep registration was also performed in children with epilepsy and parasomnias altogether. Similarly, these values did not differ significantly. Comparison of the means of all concentrations of both cytokines between groups of children with epilepsy and parasomnias was performed and also did not differ significantly., Conclusion: IL-6 as well as IL-8 concentrations can not have practical use in diagnostics of children's paroxysmal sleep disorders because they do not differentiate basic types of these disorders such as epilepsy and parasomnias.
- Published
- 2010
40. [Influence of visual stimulation on cerebral blood flow and visual evoked potentials in children with migraine with visual aura].
- Author
-
Biedroń A and Kaciński M
- Subjects
- Adolescent, Child, Female, Humans, Male, Cerebrovascular Circulation, Evoked Potentials, Visual, Migraine with Aura physiopathology, Photic Stimulation
- Abstract
Background: Visual aura is the most common type of migrainous aura. It may occur as a single symptom or precede sensory or speech disturbances. Aura symptoms and order of their appearance may result from propagation of spreading depression phenomenon. Vascular disorders observed during migraine with aura attacks are probably secondary to neuronal changes. Simultaneous registration of cerebral bioelectric activation and changes evoked in cerebral circulation enables their objective estimation, detection of correlation and better understanding of migraine with aura pathogenesis. Studies with transcranial Doppler revealed impaired cerebrovascular response to various stimulations in migraine, especially migraine with aura patients. Combination of Doppler examination with registration of visual evoked potentials (VEP) enables estimation on neurovascular coupling., Aim of the Study: Estimation of cerebrovascular response to visual stimulation in migraineurs with visual aura. Examination of correlation between cerebral blood flow and VEP parameters., Material and Methods: 50 children at the age range 8-18 years, 8 with migraine with visual aura, 9 with visual and sensory aura, 8 with visual, sensory and dysphasic aura and 25 children from control group. Examination of cerebral blood flow parameters was performed with transcranial Doppler, with the use of continuous monitoring, enabling performance of simultaneous record. ing from vessels of both hemispheres. Systolic (SV), end-diastolic (EDV), mean (MV) velocities and pulsatility (PI) and resistive indexes (RI) were analyzed. Parameters of cerebral blood flow were recorded in middle cerebral arteries, at rest (1 measurement), during visual stimulation (2, 3 measurement) and directly after the end of the stimulation (4 measurement). Black and white checkerboard pattern rebersal was visual stimulator and during stimulation VEP were registered. N75, P100, N135 latencies and N75/P100, P100/N135 amplitudes were analyzed. Moreover correlation between visually evoked changes in cerebral blood flow (2-1 measurement) and VEP values was examined., Results: Statistically significant differences in EDV and MV were found between controls and migraineurs with aura. In response to visual stimulation significant differences in cerebral blood flow velocities (SV, EDV, MV) were found and most often were observed direct after the beginning of the stimulation, however they did not differ significantly between the groups. Interactions between group and time was also not found in the following analyzed groups: migraine with visual, sensory and visual, sensory, dysphasic aura vs control, migraine with visual aura vs visual and sensory aura vs visual, sensory and dysphasic aura. Significant differences in P100 latencies and N75/P100 amplitudes were found between control and migraine with more than one aura symptom but no differences were found within migraine with aura subtypes. Moreover, in migraine with aura patients positive correlation between visually evoked changes in cerebral blood flow velocities and VEP amplitudes was detected., Conclusions: Visual stimulation has significant influence on cerebral blood flow velocities in both migraine with aura patients and controls and these changes are most often observed direct after the beginning of the stimulation. However, no differences in vascular response to visual stimulation between the groups were observed. On the other hand positive correlation between visually evoked changes in cerebral blood flow velocities and VEP amplitudes was found in migraine with aura patients suggesting increased neurovascular coupling in this group when compared with controls.
- Published
- 2010
41. [Sleep paroxysmal events in children in video/polysomnography].
- Author
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Zajac A, Skowronek-Bała B, Wesołowska E, and Kaciński M
- Subjects
- Adolescent, Child, Child, Preschool, Female, Humans, Male, Narcolepsy physiopathology, Sleep physiology, Narcolepsy diagnosis, Polysomnography
- Abstract
Background: It is estimated that about 25% of children have sleep disorders, from short problems with falling asleep to severe including primary sleep disorders. Majority of these problems are transitory and self-limiting and usually are not recognized by first care physicians and need education., Aim of the Study: Analysis of sleep structure at the developmental age and of sleep disorders associated with different sleep phases on the basis of video/polysomnography results., Material and Methods: Literature review and illustration of fundamental problems associated with sleep physiology and pathology, with special attention to paroxysmal disorders. Additionally 4 cases from our own experience were presented with neurophysiological and clinical aspects., Results: Discussion on REM and NREM sleep, its phases and alternating share according to child's age was conducted. Sleep disorders were in accordance with their international classification. Parasomnias, occupying most of the space, were divided in two groups: primary and secondary. Among primary parasomnias disorders associated with falling asleep (sleep myoclonus, hypnagogic hallucinations, sleep paralysis, rhythmic movement disorder, restless legs syndrome) are important. Another disorders are parasomians associated with light NREM sleep (bruxism, periodic limb movement disorder) and with deeper NREM sleep (confusional arousals, somnabulism, night terrors), with REM sleep (nightmares, REM sleep behavior disorder) and associated with NREM and REM sleep (catathrenia, sleep enuresis, sleep talking). Obstructive sleep apnea syndrome and epileptic seizures occurring during sleep also play an important role. Frontal lobe epilepsy and Panayiotopoulos syndrome should be considered in the first place in such cases. Our 4 cases document these diagnostic difficulties, requiring video/polysomnography examination 2 of them illustrate frontal lobe epilepsy and single ones myoclonic epilepsy graphy in children is a difficult technique and requires special device, local and trained personnel. It is crucial in gathering objective data about sleep disorders., Summary: Correct diagnosis of paroxysmal disorders during sleep in children is possible thanks to video/polysomnography, and enables proper management and pharmacotherpy. It enables improvement or cure disorders during the sleep and moreover enables the obtainment of positive changes in child's every day life.
- Published
- 2010
42. [Visual and auditory evoked potentials parameters in multiple sclerosis in children].
- Author
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Steczkowska M, Kaciński M, and Kroczka S
- Subjects
- Adolescent, Female, Humans, Male, Reaction Time, Evoked Potentials, Auditory, Evoked Potentials, Visual, Multiple Sclerosis diagnosis, Multiple Sclerosis physiopathology
- Abstract
Background: Evoked potentials (EP) visual (VEP) and auditory (BAEP) are used in diagnostics of demyelinating diseases, especially multiple sclerosis (MS). Elongation of the EP latencies and interlatencies has been found so far and sometimes change in the shape of the responses or decrease of their amplitudes has been registered as well., Aim of the Study: Characteristics of VEP and BAEP parameters in Polish children with MS., Material and Methods: Analysis included examination results of 10 patients with MS, at the age range from 13 to 17 years, 5 girls and 5 boys, hospitalized in the Department of Pediatric Neurology Chair of Pediatric and Adolescent Neurology Jagiellonian University Collegium Medicum in Krakow, in the years 2004-2010. Control group consisted of 10 children with similar age and sex distribution. VEP were registered during monocular stimulation with black and white checkerboard pattern reversal (pattern reversal VEP). Responses were registered from three active electrodes O1, O2 and Oz (according to the 10-20 International System of Electrode Placement). Latency of the maximal positive deflection P100, preceding N75 component, following N135 and N75/P100 amplitude were analysed. BAEP were evoked during alternating stimulation of the left and right ear, with the use of acoustic stimulus ("click") at 70 dB HL. The responses were registered from two receiving electrodes localized on the mastoid processes and from reference electrode Cz (according to the 10-20 International System of Electrode Placement). Latencies of I, II and V deflection and interlatencies: I-III, III-V, I-V were analyzed., Results: As far as VEP are concerned, significant elongation of P100 latencies was revealed in children from examined group when compared with control. N75/P100 amplitude differences were not statistically significant in both groups. BAEP analysis revealed significant elongation of III and V wave latencies and III-V, I-V interlatencies., Conclusions: Evoked potentials, visual and auditory are important paraclinical tests used in MS diagnostics in children. They are used in identification of clinically silent demyelinating foci.
- Published
- 2010
43. Prenatal stress decreases glycogen synthase kinase-3 phosphorylation in the rat frontal cortex.
- Author
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Szymańska M, Suska A, Budziszewska B, Jaworska-Feil L, Basta-Kaim A, Leśkiewicz M, Kubera M, Gergont A, Kroczka S, Kaciński M, and Lasoń W
- Subjects
- Animals, Female, Glycogen Synthase Kinase 3 beta, Intracellular Fluid enzymology, Male, Phosphorylation, Pregnancy, Prenatal Exposure Delayed Effects psychology, Rats, Rats, Sprague-Dawley, Stress, Psychological psychology, Frontal Lobe enzymology, Glycogen Synthase Kinase 3 metabolism, Prenatal Exposure Delayed Effects enzymology, Stress, Psychological enzymology
- Abstract
It has been postulated that hyperactive glycogen synthase kinase-3 (GSK-3) is an important factor in the pathogenesis of depression, and that this enzyme also contributes to the mechanism of antidepressant drug action. In the present study, we investigated the effect of prenatal stress (an animal model of depression) and long-term treatment with antidepressant drugs on the concentration of GSK-3beta and its main regulating protein kinase B (PKB, Akt). The concentration of GSK-3beta, its inactive form (phospho-Ser9-GSK-3beta), and the amounts of active (phospho-Akt) and total Akt were determined in the hippocampus and frontal cortex in rats. In order to verify our animal model of depression, immobility time in the forced swim test (Porsolt test) was also determined.We found that prenatally stressed rats display a high level of immobility in the Porsolt test and chronic treatment with imipramine, fluoxetine, mirtazapine and tianeptine normalize this change. Western blot analysis demonstrated that GSK-3beta levels were significantly elevated in the frontal cortex, but not in the hippocampus, of prenatally stressed rats. The concentration of its non-active form (phospho-Ser9-GSK-3beta) was decreased only in the former brain structure. No changes were found in the amounts of active (phospho-Akt) and total Akt in both studied brain structures. Chronic treatment with antidepressant drugs diminished stress-induced alterations in GSK-3beta and phospho-GSK-3beta the frontal cortex, but had no effect on the concentration of these enzymes in the hippocampus. Moreover, levels of Akt and phospho-Akt in all experimental groups remained unchanged. Since our animal model of depression is connected with hyperactivity of the HPA axis, our results suggest that GSK-3beta is an important intracellular target for maladaptive glucocorticoid action on frontal cortex neurons and in antidepressant drug effects. Furthermore, the influence of stress and antidepressant drugs on GSK-3beta does not appear to impact the kinase activity of Akt.
- Published
- 2009
- Full Text
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44. Transcranial Doppler evaluation in migraineurs.
- Author
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Nowak A and Kaciński M
- Subjects
- Blood Flow Velocity, Cerebrovascular Circulation drug effects, Foramen Ovale, Patent complications, Foramen Ovale, Patent diagnostic imaging, Humans, Migraine Disorders etiology, Tryptamines pharmacology, Vasospasm, Intracranial complications, Migraine Disorders diagnostic imaging, Ultrasonography, Doppler, Transcranial, Vasospasm, Intracranial diagnostic imaging
- Abstract
Transcranial Doppler (TCD) enables indirect assessment of cerebral circulation by measurement of cerebral blood flow velocity. Stenosis and occlusion of cerebral vessels or cerebral vasospasm can be detected with this non-invasive method. Moreover, changes in cerebral blood flow velocity in response to hypercapnia or hypocapnia, exercise, temperature, orthostatic stress, visual and intellectual stimulation can be recorded and vasoreactivity or autoregulation mechanisms assessed. Migraine is considered to be a vasomotor disorder; its pathogenesis, however, is complex and requires further studies. TCD may help to detect mechanisms leading to migraine attack as well as during the attack and help to understand its pathophysiology. In this paper, the results of TCD examination in migraine patients in headache-free periods and during the attacks, in basal condition and during different stimulations, are presented. The influence of triptans on cerebral circulation is also described. Additionally, the role of TCD in diagnosis of patent foramen ovale in migraineurs is discussed.
- Published
- 2009
45. [Rehabilitation outcome in children with cranial trauma and hypoxaemia of the brain].
- Author
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Swierczyńska A, Kłusek R, Wesołowska E, and Kaciński M
- Subjects
- Adolescent, Brain Injuries complications, Craniocerebral Trauma complications, Female, Humans, Hypoxia, Brain etiology, Infant, Male, Paresis etiology, Quadriplegia etiology, Treatment Outcome, Brain Injuries rehabilitation, Craniocerebral Trauma rehabilitation, Hypoxia, Brain rehabilitation, Paresis rehabilitation, Quadriplegia rehabilitation
- Abstract
Background: Traumatic brain injury is one of the most common causes of children's disability and death., Aim of the Study: The goal of this study was to present the effects of improvement treatment in patients who suffered various types of brain trauma, to discuss their motor functions as well as the emotional state and behavioural disturbances. One of the aims was also to present complications which took place reagardless of complex rehabilitation., Material and Methods: In this study we describe the state of 5 patients. The patients were assessed with the Ashworth and RLAS scales before and after the complex rehabilitation. The programme of rehabilitation was designed individually for each patient depending on his RLAS score. The complications developed after 6 months of treatment are described., Results: In one case only- in a girl with hemiparesis- the state of nearly independent motor functioning was achieved. The other patients are bedridden or dependent on a second person when moving in a wheelchair. The girl with hempiparesis and another girl with spastic quadriparesis remain in the best verbal contact. Both of them however present with profound cognitive, emotional and behavioural deficits. The other patients are unable to reach any verbal communication. Because of swallowing problems some of the patients had feeding tube or tracheostomy performed. Each patient had an individually designed rehabilitation programme., Conclusions: The outcome of rehabilitation treatment in patients with profound traumatic brain injury is very individual. The best outcome was achieved in a girl with hemiparesis who suffered brain injury in a car accident, and worse in children after brain hypoxaemia.
- Published
- 2009
46. [Children's sleep disturbances in videoelectroencephalography and polysomnography--preliminary data].
- Author
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Zajac A, Skowronek-Bała B, Wesołowska E, and Kaciński M
- Subjects
- Child, Child, Preschool, Diagnosis, Differential, Female, Humans, Infant, Male, Seizures classification, Electroencephalography methods, Parasomnias diagnosis, Polysomnography, Seizures diagnosis
- Abstract
Introduction: Correlation between sleep and epilepsy is one of the most basic issues of pediatric neurology. VideoEEG nad polysomnography play an important role in diagnostic process of seizures occuring during sleep, epileptic seizures as well as parasomnic episodes., Aim: In this paper videoEEG and polysomnography assessment in diagnosis paroxysmal sleep events in children was done., Material and Methods: 25 sleep registrations were performed, videoEEG was performed in 23 children with the age limit of 5 years, and two 8-years-old children underwent total polysomnographic examinations., Results: Examination during sleep time enabled to establish diagnosis of epilepsy in 18/25 children, in 2 children suspicion of epilepsy was made and in 5 epilepsy was excluded. Positive video results were found in 18/25 children and in 7 no clinical symptoms were recorded. Paroxysmal EEG activity was registered in 16 children, in 5 it was abnormal and in 4 it was within normal limits. Frontal epileptic seizures were observed in two children with simultaneous pathological changes in EEG, and in 1 of them in polysomnographic recording., Conclusions: VideoEEG and polysomnographic examinations in children during sleep are helpful in defining seizure types and parasomnias.
- Published
- 2009
47. [Usefulness of electromyography in diagnostics of the neuro-muscular diseases].
- Author
-
Kroczka S, Steczkowska M, and Kaciński M
- Subjects
- Adolescent, Child, Preschool, Diagnosis, Differential, Female, Humans, Male, Myasthenia Gravis diagnosis, Myositis diagnosis, Young Adult, Electromyography, Neuromuscular Diseases diagnosis
- Abstract
Introduction: Electrophysiological examinations still play an important role in initial diagnostics of neuromuscular disorders and monitoring of the disease progress or recovery process., Aim of the Study: Evaluation of neurophysiological examinations usefulness in differential diagnosis, indicating diagnostic and/or therapeutic management in patients with suspicion of neuromuscular disorders., Material and Methods: 109 patients were included, hospitalized at Department of Pediatric Neurology Jagiellonian University and treated at Neuromuscular, Neurologic, Orthopedic and Rehabilitation Outpatient Clinics of the Children's Hospital in Krakow. 6 groups of patients were indicated: I-11 patients with benign acute childhood myositis, BACM), II-18 children with gait disturbances, III-36 patients with suspicion of neuropathy, IV-11 patients hospitalized with suspicion of muscular disorders, V-18 children with SMA suspicion and V-15 patients with suspicion of myasthenia (MG). Neurophysiological examinations were conducted within 5 years (from May, 2004 to May, 2009) with Keypoint device from MedtronicDantec., Results: In the first group, EMG examination, performed in the acute phase of the disease, did not reveal any abnormalities. Indicators of inflammatory process were normal, however in 5 patients transient elevation of CK was found. Diagnosis of BACM in this group was established. Couple-month observation of children after BACM did not reveal deficits of muscular tone and strength, recurrence of the disease, or elevation of CK, despite consecutive respiratory tract infections. In 4/18 patients with gait disturbances EMG examination revealed abnormalities. In 1 patient myogenic injury of the muscles was found, in 3 conduction in motor fibers of examined peripheral nerves was disturbed. In 14/18 children EMG examination did not reveal any pathological changes. In 17/36 children from group III diagnosis of inflammatory neuropathy was established (Guillain-Barre Syndrome, GBS), in 2 chronic inflammatory demyelinating polyneuropathy, and in 2 others multifocal motor neuropathy with conduction block. In 7/36 patients familial sensory-motor polyneuropathy was diagnosed. Neuroboreliosis was cause of neuropathy in 2 children. In 1 child, segmental inflammation of anterior horns of the spinal cord evoked by Coxackie virus was revealed. Friedreich disease, Nieman-Pick disease, thoracic outlet syndrome was found in others. In 1 boy symptoms of polyneuropathy and encephaloptahy occurred in the course of tal intoxication. In group IV EMG examination showed myopathic injury of the muscles in 9 children. In 2 others the examination results were normal. Kearns-Syre syndrome was found in one of them and Duchenne disease in the second one, 16, 5 years old boy without pain complaints, Becker disease in 2 and in next 2 patients encephalopathy and in rare cases BaCM, congenital dystrophy and myotubular myopathy. SMA was diagnosed based on clinical manifestation and EMG examination in 18 patients. EMG examination showed lower motor neuron injury in every child with SMA type I and II. MG was diagnosed in 15 patients based on clinical manifestation and positive result of fatigability test. Ocular myasthenia was found in 2 patients, bulbar type of MG was found in 1 and systemic myasthenia in 12 children. In electrophysiological fatigability test amplitude of the first response was normal in every patient and decrease of amplitude in response 4:1 in patients with MG was from 26 to 88%., Conclusions: Electromyographic examination remains important diagnostic tool of neuromuscular disorders. In order to limit extension of differential diagnostics EMG should be performed in its early stage.
- Published
- 2009
48. [Neuroboreliosis with motoric disturbations in the developmental age].
- Author
-
Skowronek-Bała B, Wesołowska E, Gergont A, and Kaciński M
- Subjects
- Adolescent, Amoxicillin therapeutic use, Anti-Bacterial Agents therapeutic use, Ceftazidime therapeutic use, Child, Child, Preschool, Doxycycline therapeutic use, Facial Paralysis drug therapy, Facial Paralysis etiology, Female, Humans, Lyme Neuroborreliosis complications, Male, Treatment Outcome, Lyme Neuroborreliosis diagnosis, Lyme Neuroborreliosis drug therapy
- Abstract
Background: Neurological symptoms develop in 10-20% of children suffered borreliosis (LD)., Aim of the Study: It was a presentation of motoric disturbances of neuroboreliosis in children., Material and Methods: Children with neuroborreliosis and other neurological diseases were admitted to the University hospital during 2005-2007. Of these 13 patients, there were 9 males and 4 females, ranging in age between 3-17 years. Neurological diagnostic was performed using ELISA Biomedica kit and western blot bands. A 2-6 week sequential treatment with either iv ceftazidime or amoxicillin and oral doxycycline or amoxicillin was provided. Children were monitored regularly during the next 4-36 months., Results: The 13 children with neuroborreliosis constitute 0.5% of the pediatric neurology department's patients. The clinical manifestation of LD were usual and unusual from patient to patient. They included four cases of facial nerve paralysis (with bilateral paralysis in one case), in three cases transverse myelitis and in a single case, hemiparesis, and oculomotor nerve paresis. In 9/13 children motoric disturbances of neuroboreliosis was diagnosed indeed. The antibiotic treatment was successful in 6 patients and only partially effective in 3 children with facial nerve paralysis., Conclusion: The most common symptoms of neuroborreliosis in children was motoric dysfunction.
- Published
- 2008
49. [Verbal fluency test--developmental aspects in health and illness].
- Author
-
Stolarska U, Kroczka S, Gergont A, Steczkowska M, and Kaciński M
- Subjects
- Adolescent, Child, Developmental Disabilities complications, Epilepsy complications, Female, Headache complications, Humans, Male, Speech Disorders etiology, Developmental Disabilities diagnosis, Neuropsychological Tests, Speech Disorders diagnosis
- Abstract
Introduction: The Verbal Fluency Test is one of the easiest method in the neuropsychological evaluation of the frontal and temporal lobes' functioning. The amount of reasearch considering children's performance is still small compared to the adult population. The test lacks polish norms (as well as norms for children in other countries, except for unique cases)., Aim of the Study: it was to present possible methods of quality and quantity analysis of the Verbal Fluency Test, and the statistical interpretation of children's performance, depending on the general result, age and diagnosis., Material and Methods: the research was done on a group of 80 children, aged 6-17, including 50 girls and 30 boys, who were hospitalized during the yeras 2007/2008 in the Department of Pediatric Neurology Chair of Pediatric and Adolescent Neurology Jagiellonian University in Krakow. The children were diagnosed with epilepsia (44 children) or headache (36 children). The Verbal Flunecy Test was used in the neuropsychological evaluation among other methods, such as Rey Osterrieth Compex Figure test, Clock test, and intelligence tests WISC-R and WAIS-R(PL)., Results: the results confirm the charakter of the method, as a executive rather than memory function measure. The general result was influenced mainly by the ability to switch between specific subcategories. The general result correlated with age and gender, also children with headache performed better than children with epilepsia., Conclusions: Apropriately interpreted, especially considering quality analysis, the Verbal Fluency test is a valuable tool in the differential diagnosis in children, and detection of subtle weakening in the development of certain cognitive abilities. It is crucial to gather appropriate normative data for the population of children in Poland, which would enable the test's use in more general practice, as one of the early detection methods in the diagnosis of developmental disorders.
- Published
- 2008
50. [Significant neuropsychological impairment in children with normal MRI results].
- Author
-
Stolarska U, Steczkowska M, Swierczyńska A, Zajac A, and Kaciński M
- Subjects
- Adolescent, Brain Diseases complications, Child, Cognition Disorders etiology, Electroencephalography, False Negative Reactions, Female, Humans, Male, Predictive Value of Tests, Sensitivity and Specificity, Brain Diseases diagnosis, Cognition Disorders diagnosis, Magnetic Resonance Imaging, Neuropsychological Tests
- Abstract
The aim of the present work was to present significant cognitive impairment in 7 children with normal neuroimaging and electroencefalography results. In 6 children we observed difficulties in verbal auditory learning, in 3 visual memory impairment, and in 1 a disorder of visuo-spatial analysis and synthesis abilities. The clinical examinations performed during the diagnostic process (MRI, CT, Eeg) revealed no neurobiological correlates of the observed neuropsychological impairment. The authors used the cases described to remind, that even though current neuroimaging techniques seem excitingly promising in the diagnostic process, psychological and neuropsychological assessment remains the most sensitive method for the measurment and description of cognitive functions.
- Published
- 2008
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