A5060155841- Epilepsy research and treatment
- Blood Coagulation and Thrombosis Mechanisms
- Autism Spectrum Disorder Research
- Child Nutrition and Feeding Issues
- Metabolism and Genetic Disorders
- Pharmacological Effects and Toxicity Studies
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Nutrition and Health Studies
- Acute Ischemic Stroke Management
- Protease and Inhibitor Mechanisms
- Neurogenetic and Muscular Disorders Research
- Cerebral Palsy and Movement Disorders
- Psychosomatic Disorders and Their Treatments
- S100 Proteins and Annexins
- Pregnancy and preeclampsia studies
- RNA regulation and disease
- Folate and B Vitamins Research
- Infant Development and Preterm Care
- Neonatal and fetal brain pathology
- RNA Research and Splicing
- RNA modifications and cancer
- Lipoproteins and Cardiovascular Health
- Restraint-Related Deaths
- Infectious Encephalopathies and Encephalitis
Medical University of Silesia
2015-2025
University of Silesia in Katowice
2008-2025
Górnośląskie Centrum Medyczne
2018
Katowice School of Technology
2012
Jagiellonian University
2008
University of Ulster
2008
Altnagelvin Area Hospital
2008
The Maria Sklodowska-Curie National Research Institute of Oncology
2008
Warsaw University of Technology
2008
Background/Objectives: Children with autism spectrum disorder (ASD) often face challenges in maintaining oral hygiene due to sensory sensitivities, behavioral difficulties, and limited access specialized dental care. This study aimed assess the status of children ASD compare it neurotypical peers. Methods: A cross-sectional was conducted 74 children. Dental exams measured caries prevalence using DMFT/dmft, Oral Hygiene Index (OHI), Sulcus Bleeding (SBI). Tooth brushing frequency visits were...
Autism Spectrum Disorder (ASD) is the most recognized neuropsychiatric disorder of childhood. Comorbid conditions (such as feeding disorders) are more common among people with autism than general population. The frequent somatic disorders in autistic children include gastrointestinal observed 46-91% patients. purpose this study was evaluation nutrition autism, particular emphasis placed on first year life, comparison to group healthy peers. Participants included 75 Caucasian (41 diagnosed...
The HNRNPH2 ‐associated disease (mental retardation, X‐linked, syndromic, Bain type [MRXSB, MIM #300986]) is caused by de novo mutations in the X‐linked gene. MRXSB has been described six female patients with dysmorphy, developmental delay, intellectual disability, autism, hypotonia and seizures. reported were clustered small domain encoding nuclear localization signal; particular, p.Arg206Trp was found four independent events. HNRNPH1 a conserved autosomal paralogue of similar function...
Abstract Epilepsy in children is the most frequent, heterogeneous and difficult to classify chronic neurologic condition with etiology found 35–40% of patients. Our aim detect metabolic differences between epileptic no neurological abnormalities order define background for therapy monitoring. The studied group included 28 epilepsy patients (median age 12 months) examined a diagnostic protocol including EEG, videoEEG, 24-hour-EEG, tests inborn errors metabolism, chromosomal analysis molecular...
Objectives: The aim of the study was to establish risk factors for sensory processing disorder (SPD). included 332 Caucasian children aged 3 12 years. main inclusion criterion occurrence SPD in group. this condition not found control Material and methods: source information included: medical records, author questionnaire. therapist used: Diagnostic Classification Mental Health Developmental Disorders Infancy Early Childhood (DC:0-5™), case report form Southern California Sensory Integration...
To analyze potential associations between three polymorphisms (rs3818188, rs941793, rs2403015) of the DYNC1H1 gene and occurrence autism spectrum disorder as well clinical phenotype affected individuals. This family-based study included 206 children diagnosed with ASD 364 their biological parents. examine association occurrence, a transmission disequilibrium test was performed. Additionally, studied individuals were analyzed using χ2 test. None showed an in overall patient group. However,...
Drug-resistant epilepsies still remain one of the most profound problems contemporary epileptology. Several mechanisms drug resistance are possible; among them, genetic factors have a prominent place. Much importance is attached to genes, which encode enzymes that metabolize antiepileptic drugs CYP 3A, belong family cytochromes P450 and genome multidrug resistance, such as 1 (MDR1) expresses P-glycoprotein (P-gp), transporter protein. The aim study was assess relation between polymorphism...
Background: KIF1A (kinesin family member 1A)-related disorders encompass a variety of diseases. variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), hereditary sensory autonomic neuropathy type 2 (HSN2C, OMIM614213), neurodegeneration spasticity with or without cerebellar atrophy cortical visual impairment (NESCAV syndrome), formerly named mental retardation 9 (MRD9) (OMIM614255). have also been occasionally linked progressive encephalopathy...
Ischemic stroke is a very rare and multifactorial disease in children. The aim of the study was to analyze relationship between methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism Polish children observe whether there any significant transmission MTHFR alleles from heterozygous parents their affected offspring. We analyzed 64 patients with stroke, 122 parents, 59 healthy genotyped using polymerase chain reaction (PCR)-restriction fragment length polymorphism. T allele more...
The main aim of the study was to compare melatonin rhythms in subjects with Angelman syndrome (<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M1"><mml:mi>n</mml:mi><mml:mo>=</mml:mo><mml:mn>9</mml:mn></mml:math>) and children id="M2"><mml:mi>n</mml:mi><mml:mo>=</mml:mo><mml:mn>80</mml:mn></mml:math>) without id="M3"><mml:mi>n</mml:mi><mml:mo>=</mml:mo><mml:mn>40</mml:mn></mml:math>) epilepsy (nonepileptic patients diagnosed peripheral nerve palsies, myopathy, back pain) using...
The investigation of a possible association between the FII, FV, FVII, and FXIII genes polymorphisms pediatric ischemic stroke (IS).The study group consisted 392 individuals, including 81 children with IS, their biological parents (n=162), 149 control children. were genotyped using polymerase chain reaction-restriction fragments length polymorphism method. relation analyzed disease was tested by 2 independent methods: family-based test-transmission/disequilibrium test (TDT) classic...
Pediatric ischemic stroke, though relatively rare, remains an important medical problem since 20−40% of patients have recurrent strokes and 50−85% them suffer from long-term neurological deficits. Approximately 20−50% the affected children prothrombotic disorders, therefore upon looking for possible genetic causes disease we focused on plasminogen activator inhibitor (PAI-1) − major fibrinolysis. The aim present study was to investigate a association between -675_-674insG <i>PAI-1</i> gene...
Autism spectrum disorder (ASD) is a neurodevelopmental of multifactorial etiology. Preconception risk factors are still poorly understood. A survey on preconception for ASD was conducted among parents 121 patients aged 3–12 years and 100 healthy children years. The exclusion criteria were as follows: the presence associated problems such intellectual disability, epilepsy or other genetic neurological diseases. Thirteen parameters considered, few which conception problems, with assisted...
Aim: The aim of the paper is to study prevalence Dravet Syndrome (DS) in Polish population and indicate different factors other than seizures reducing quality life such patients. Method: A survey was conducted among caregivers patients with DS by members support group Association for People Severe Refractory Epilepsy DRAVET.PL. It included their experience diagnosis, seizures, treatment-related adverse effects. also completed PedsQL survey, which showed most important problems. received 55...
Autism spectrum disorder is characterized by social communication deficit and non-normative behavior. The people with autism often experience troubles feeding. purpose of this study was to conduct evaluation the feeding eating behaviors among children autism. group included 41 high-functioning autistic children. control consisted 34 without ASD. questionnaire used assess nutritional status. ASD fuss during mealtimes more frequently, they require entertaining diverting their attention, are...
Early detection of movement deficits during step initiation will facilitate the selection optimal physiotherapy management strategy. The main aim study was to assess potential differences in between 5- and 6-year-old children with faulty posture who had been diagnosed neurodevelopmental disorders infancy healthy children.The experimental group consisted 19 aged 5-6 years posture, were given first year their lives. control comprised nursery school no postural defects, history or deficits,...
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