A5050221985- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- RNA modifications and cancer
- Parasitic Infections and Diagnostics
- Neonatal and fetal brain pathology
- ATP Synthase and ATPases Research
- Palliative Care and End-of-Life Issues
- History of Medicine Studies
- High Altitude and Hypoxia
- Glioma Diagnosis and Treatment
- History of Medical Practice
- Myasthenia Gravis and Thymoma
- Health, Environment, Cognitive Aging
- Genetics and Neurodevelopmental Disorders
- Childhood Cancer Survivors' Quality of Life
- Congenital heart defects research
- Pituitary Gland Disorders and Treatments
- Muscle Physiology and Disorders
- Ethics and Legal Issues in Pediatric Healthcare
- Cerebrospinal fluid and hydrocephalus
- Congenital Anomalies and Fetal Surgery
- Long-Term Effects of COVID-19
- Medical and Biological Sciences
- Cellular transport and secretion
- Mitochondrial Function and Pathology
Ljubljana University Medical Centre
2020-2024
The integration of pediatric palliative care (PPC) should become a standard for all children with life-limiting and life-threatening illnesses. There are many barriers misperceptions in pediatrics which hinder the early implementation PPC. aim study was to design starting points establishment accessible PPC involvement patients tertiary-level children's hospital. An intervention, presentation, discussion on were offered by hospital team employees A total 237 participants (physicians 30.4%,...
Spinalna mišična atrofija (SMA) je redka genetska bolezen, ki prizadene motorične nevrone, zaradi česar propadajo mišice ter se slabša splošno stanje bolnika. Do nedavnega vzročnega zdravljenja za SMA ni bilo, zato so bili bolniki popolnoma odvisni od podpornega in zgolj vzdrževanja življenjskih funkcij. Danes na voljo 3 zdravila: nusinersen, risdiplam onasemnogen abeparvovek. Ker genska nadomestna terapija z zdravilom abeparvovek (Zolgensma®) pomeni nov mejnik v zdravljenju SMA, jo bo...
Background: With the increasing availability and advances in brain imaging, pineal cyst lesions (PCL) are becoming a common finding pediatric population. In absence of evidence-based guidelines, optimal diagnostic therapeutic approaches have not been established, there is risk under- or overtreatment these patients. Objectives: The aim our study was to evaluate clinical presentation radiological features PCL cohort patients identify parameters more commonly associated with neoplasms region....
We report the case of a girl with spinal muscular atrophy (SMA) type 1, who is first patient SMA in Slovenia treated nusinersen, disease modifying therapy available for these patients. an autosomal recessive neuromuscular disorder characterized by muscle weakness, and paralysis due to degeneration anterior horn cells, leading premature death, most commonly respiratory infections. Nusinersen, antisense oligonucleotide, was clinically approved based on clinical trials showing dramatic...
Duchennova mišična distrofija (DMD) je najpogostejša in ena najresnejših mišičnih bolezni otroške dobe. Gre za na kromosom X vezano recesivno živčno-mišično bolezen, ki jo povzroča mutacija v genu distrofin. Primarno prizadene skeletne mišice srčno mišico.
 Pri večini dečkov se klinični znaki izrazijo z napredujočo mišično šibkostjo med 3. 5. letom starosti. Mišična šibkost bolj izražena proksimalnih kot distalnih mišicah začetni fazi vpliva poslabšanje funkcije spodnjih zgornjih udov....