A5047561621- Attention Deficit Hyperactivity Disorder
- Genetics and Neurodevelopmental Disorders
- Steroid Chemistry and Biochemistry
- Autism Spectrum Disorder Research
- Mitochondrial Function and Pathology
- Microbial Natural Products and Biosynthesis
- Sleep and related disorders
- Neurological disorders and treatments
- Ion channel regulation and function
- Cerebral Palsy and Movement Disorders
- RNA modifications and cancer
- Genomics and Rare Diseases
- Family and Disability Support Research
- Genetic Neurodegenerative Diseases
- Airway Management and Intubation Techniques
- Infant Development and Preterm Care
- EEG and Brain-Computer Interfaces
- Anesthesia and Sedative Agents
- Sleep and Wakefulness Research
- Metabolism and Genetic Disorders
- Antibiotics Pharmacokinetics and Efficacy
- Circadian rhythm and melatonin
- Obsessive-Compulsive Spectrum Disorders
- Epilepsy research and treatment
- Cardiac Arrhythmias and Treatments
University of Computer Sciences and Economics in Olsztyn
2021-2024
University of Warmia and Mazury in Olsztyn
2021-2024
Uniwersytecki Szpital Kliniczny w Olsztynie
2021-2022
Gdańsk Medical University
2017
The Maria Sklodowska-Curie National Research Institute of Oncology
2000
Leigh syndrome (LS) is a progressive neurodegenerative disease, characterized by extensive clinical, biochemical, and genetic heterogeneity. Recently, biallelic variants in DNAJC30 gene, encoding protein crucial for the repair of mitochondrial complex I subunits, have been associated with Leber hereditary optic neuropathy LS. It was suggested that clinical heterogeneity DNAJC30-associated disease may be attributed to digenic inheritance. We describe three Polish patients, 9-year-old boy,...
Purpose To obtain information on characteristics, management, current objective nutritional status and perception of children with cerebral palsy (CP) from healthcare professionals (HCPs) caregivers.Materials methods A detailed survey several items eight main topics (general motor function, comorbidities, therapies, anthropometry, feeding mode problems perceived status) was developed tested for the study. Correlation between Gross Motor Function Classification System (GMFCS) levels assessed...
Introduction: Membrane trafficking processes are essential for cell viability and basic functions, as well interactions between the interior surrounding environment.
 Purpose: This article focuses on review of specific subgroup inherited neurodevelopmental disorders caused by membrane dysfunction. The possibility innovative therapeutic approaches based selective effects is also discussed.
 State knowledge: Most previously published reviews lists multi-organ diseases related to...
Chronotypes play a crucial role in regulating sleep–wake cycles and overall health. The aim of this study was to investigate chronotype, sleep quality, polymorphisms clock genes the level leptin serum. We used standardized questionnaires assess chronotype quality. Genetic analysis performed determine selected gene polymorphism. Serum measured by Elisa method. results showed that serum concentration elevated women, as well men who had high waist-to-hip ratio (WHR) body mass index (BMI)....
Introduction: Membrane trafficking processes are essential for cell viability and basic functions, as well interactions between the interior surrounding environment.
 Purpose: This article focuses on review of specific subgroup inherited neurodevelopmental disorders caused by membrane dysfunction. The possibility innovative therapeutic approaches based selective effects is also discussed.
 State knowledge: Most previously published reviews lists multi-organ diseases related to...
In recent years, there has been a significant increase in the number of diagnosed cases autism. case correctly made diagnosis, positive effect this phenomenon is possibility obtaining therapeutic intervention that adequate for patient. On other hand, some researchers note risk associated with overdiagnosis these conditions. It postulated diagnosis process should not focus only on presence individual symptoms, but also understanding their meaning and history occurrence. addition, many mental,...
European Society of Anaesthesiologists; 8th Annual Meeting with the Austrian International Congress; Vienna, Austria, 1-4 April 2000
Wprowadzenie i cel: Spektrum fenotypowe zaburzeń neurorozwojowych związanych z wariantami patogennymi w genie GNAO1 obejmuje encefalopatię rozwojowo-padaczkową (ERP) szereg ruchowych (ZR). Powyższe objawy kliniczne są związane zaburzeniami presynaptycznego autohamującego działania neuroprzekaźników na receptory: muskarynowy M2/M4, α2-adrenergiczny, opioidowy μ/δ, gabaergiczny GABA-B. Dokonano analizy korelacji fenotyp-genotyp u pacjentów celem zidentyfikowania nowych powiązań pomiędzy...