A5071085297- Neonatal and fetal brain pathology
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Neonatal Respiratory Health Research
- Pharmaceutical studies and practices
- Neuroscience of respiration and sleep
- Ethics and Legal Issues in Pediatric Healthcare
- Infant Development and Preterm Care
- Cerebral Palsy and Movement Disorders
- Child and Adolescent Health
- Adolescent and Pediatric Healthcare
- Childhood Cancer Survivors' Quality of Life
- Legal Systems and Judicial Processes
- Legal Education and Practice Innovations
- Genomics and Rare Diseases
- Law, Economics, and Judicial Systems
- Judicial and Constitutional Studies
- Viral Infections and Immunology Research
- Genetics and Neurodevelopmental Disorders
- Sleep and related disorders
- Cardiovascular Syncope and Autonomic Disorders
- Heavy Metal Exposure and Toxicity
- Fetal and Pediatric Neurological Disorders
- Criminal Law and Evidence
- Mercury impact and mitigation studies
Ljubljana University Medical Centre
2016-2025
Temple Street Children's University Hospital
2006-2025
Uniwersytecki Szpital Dziecięcy
1995-2025
Children's Clinical University Hospital
1995-2025
University of Ljubljana
2011-2024
University of Udine
2022
UConn Health
2019
The European Academy of Gynaecological Surgery
2018
Great Ormond Street Hospital
2017
University College London
2017
Through the agnostic screening of patients with uncharacterised disease phenotypes for an upregulation type I interferon (IFN) signalling, we identified a cohort individuals heterozygous mutations in PTPN1, encoding protein-tyrosine phosphatase 1B (PTP1B). We aimed to describe clinical phenotype and molecular cellular pathology this new disease. In case series, collected neuroradiological data through collaboration paediatric neurology genetics colleagues across Europe (Czechia, France,...
Aim: To report on prevalence of cerebral palsy (CP), severity rates, and types brain lesions in children born preterm 2004 to 2010 by gestational age groups. Methods: Data from 12 population-based registries the Surveillance Cerebral Palsy Europe network were used. Children with CP eligible if they (<37 weeks age) between 2010, at least 4 years time registration. Severity was assessed using impairment index. The findings postnatal imaging classified according predominant pathogenic...
Objective Paediatric clinical trials are often conducted as multinational trials. Informed consent or assent is part of the ethics committee approval for The requirements vary between countries due to national laws and regulations, which not harmonised in Europe. These discrepancies can present challenges paediatric aim this study was assemble these across European Economic Area. collated have been publicly available before, despite a real need data. Methods National were analysed 25 Union...
<h3>Background</h3> Joubert syndrome (JS) is a recessive ciliopathy characterised by distinctive brain malformation 'the molar tooth sign'. Mutations in >27 genes cause JS, and mutations 12 of these also Meckel-Gruber (MKS). The goals this work are to describe the clinical features <i>MKS1</i>-related JS determine whether disease causing <i>MKS1</i> affect cellular phenotypes such as cilium number, length protein content potential mechanisms underlying JS. <h3>Methods</h3> We measured...
Summary: To assess the correlation between hypsarrhythmia duration and mental outcome in infantile spasms (IS) medical records of 48 infants with IS were reviewed retrospectively psychological assessments undertaken at follow‐up age 3 to 13 years. We found 18 (38%) cryptogenic cases typical 30 symptomatic modified hypsarrhythmia—further classified into 15 as multifocal, 10 pseudoperiodic 5 unilateral hypsarrhythmia. A short treatment lag (one two weeks) occurred 25, three four weeks cases....
Introduction Some parents initiate treatment with non-prescription, home-made (unlabeled and unregulated) cannabis products for their children refractory epilepsy without consulting physicians. This study aimed to analyze the composition of these in a pediatric cohort. Methods Home-made samples were analyzed cannabinoid content, cannabidiol (CBD):Δ9-tetrahydrocannabinol (THC) ratio, potential contaminants. Results Sixty from 31 patients analyzed. The most frequently detected cannabinoids...
This study was performed with the aim of determining diagnostic profile newborns hypotonia and analyzing usefulness different procedures in process. One hundred thirty-eight hypotonic were identified through search hospital records a 10-year period: 121 (88%) had central 13 (9%) peripheral hypotonia, whereas 4 (3%) remained unclassified. Analysis contribution clinical data results investigations led to construction an algorithm, by which all cases group diagnosed. Step 1, included...
Abstract This study reviewed the link between social media and growing epidemic of childhood obesity in Europe. A task force from European Academy Paediatrics Childhood Obesity Group searched published literature developed a consensus statement. It found that there was evidence strong levels across countries exposure parents society needed better understanding influence on dietary habits. Conclusion. Health policies Europe must take account range influences promote development obesity.
Abstract Introduction In a cross-sectional cohort study, health-related quality of life Slovenian children and adolescents with cerebral palsy was examined, factors associated it have been identified. Methods Caregivers 122 were addressed to fill out proxy versions HRQoL questionnaires (DISABKIDS generic module). Children without cognitive deficit asked the self-report versions. Results Ninety-one families 43 (the mean age is 10 years, 6 months, SD 1.2; 26 males 17 females) 48 14 0.9; 23 25...
The police have taken a suspect into custody and booked him. After the arrest, what next? At first glance, this rather simple question seems to imply an equally answer - arrestee will be formally charged with crime. Inattention post-arrest proceedings has reinforced assumption that judicial follow arrest. But being in station is not same as court. Despite swelling of interest their use arrest power, there been relatively little or concern happens after