A5078399939- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Pediatric health and respiratory diseases
- Tracheal and airway disorders
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Biochemical and Molecular Research
- Child Nutrition and Feeding Issues
- Childhood Cancer Survivors' Quality of Life
- Inhalation and Respiratory Drug Delivery
- Pneumonia and Respiratory Infections
- Respiratory Support and Mechanisms
- Cytomegalovirus and herpesvirus research
- Congenital heart defects research
- Asthma and respiratory diseases
- Energy Harvesting in Wireless Networks
- Multiple Myeloma Research and Treatments
- Hematopoietic Stem Cell Transplantation
- Adolescent and Pediatric Healthcare
- COVID-19 and Mental Health
- Cancer therapeutics and mechanisms
- COVID-19 Clinical Research Studies
- Dysphagia Assessment and Management
- Ethics and Legal Issues in Pediatric Healthcare
- Insects and Parasite Interactions
- ATP Synthase and ATPases Research
Ljubljana University Medical Centre
2009-2023
Children's Clinical University Hospital
2016-2023
Uniwersytecki Szpital Dziecięcy
2016-2023
University of Ljubljana
2023
Očesna Klinika UKC Ljubljana
2021
Temple Street Children's University Hospital
2016
Three autosomal recessive disorders are associated with mutations in the RECQL4 gene: Rothmund-Thomson syndrome (RTS), Baller-Gerold (BGS), and RAPADILINO syndrome. BGS is characterized by two major clinical abnormalities: craniosynostosis preaxial limb anomalies but not cancer development. We performed mutation detection a patient several signs of RTS who developed midline NK/T-cell lymphoma. Sequencing was used to identify mutations, RNA analysis examine expression mRNA leukocytes. The...
<b>Introduction:</b> It is acknowledged that highly effective modulator treatment (HEMT), such as elexacaftor/tezacaftor/ivacaftor (ETI), can importantly improve quality of life eligible people with cystic fibrosis (pwCF). However, the effect HEMT on bone mineral density (BMD) unknown. The aim our prospective study was to assess effectiveness ETI BMD in children and young adults CF. <b>Methods:</b> Lumbar spine (LS) whole-body (WB) measured by dual energy X-ray absorptiometry assessed before...
Phosphoribosylpyrophosphate synthetase 1 (PRS-I) is an enzyme involved in nucleotide metabolism. Pathogenic variants the PRPS1 are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked non-syndromic sensorineural deafness (DFN2), Charcot-Marie-Tooth neuropathy type 5 (CMTX5) Arts syndrome. We present a Slovenian patient with due to novel pathogenic variant - c.424G > A (p.Val142Ile) gene, who presented gross motor impairment, severe deafness, balance issues, ataxia,...
Factors associated with COVID-19 presentation in children asthma are poorly defined. Our study aimed to assess the clinical course of asthma, particular attention possible risk factors for severe disease and long-term sequelae this group patients. We assessed occurrence SARS-CoV-2 infection six months before their regular outpatient visit clinic. Characteristics patients presenting signs upper (URTI) or lower respiratory tract (LRTI) were compared. focused on previously severity....
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....
<b>Background:</b> Children with congenial heart defects (CHD) are prone to suffer from various respiratory conditions. Airway diseases can be associated developmental abnormalities or issue surgical complications. Flexible bronchoscopy (FB) offers effective diagnostic and treatment options in these patients. <b>Objective:</b> To evaluate the prevalence characteristics of airway CHD children. <b>Methods:</b> Medical records review study patients treated for at University children's hospital...
<b>Background:</b> Flexible bronchoscopy (FB) is increasingly used in children and adolescents with cystic fibrosis (CF). Many patients are non-sputum producers, thus FB for infection evaluation surveillance sampling after bacterial eradication treatments. It offers efficient treatment options airway impairments it represents the cornerstone of post-transplant management. <b>Objective:</b> To evaluate frequency characteristics FBs performed a single CF centre. <b>Methods:</b> Medical records...
<b>Introduction:</b> Cystic fibrosis transmembrane conductance regulator modulator therapies have shown unprecedented health improvements in persons with cystic (pwCF). Elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) therapy has been reported to improve several clinical outcomes these patients. Only limited data is currently available on treatment related lung ultrasound (LUS) asessment. We aimed compare LUS chest imaging at initiation and 6 months of treatment. <b>Methods.</b> Twenty (10...
<b>Background:</b> Structured and appropriately timed approach to end-of-life care decision-making has become an important part of in children with terminal illnesses. Despite its importance, many families medical teams face these issues fare late. <b>Objective:</b> Our aim was retrospectively evaluate decisions (EOLCD) made who died a university hospital9s respiratory high dependency unit. <b>Methods:</b> Medical files 14-year period were analyzed for the relevant history EOLCD process....
<b>Background:</b> High flow oxygen therapy (HFOT) has been increasingly used for the treatment of hypoxemic and hypercapnic respiratory insufficiency in children with chronic lung disease prematurity (CLD). Data on home this modality are scarce. <b>Objective:</b> Evaluation feasibility safety HFOT ex-premature needing long term support. <b>Methods:</b> Retrospective medical file analysis discharged support during 2014 2015 treated at University Children9s Hospital Ljubljana. <b>Results:</b>...
Phosphoribosylpyrophosphate synthetase 1 (PRS-I) is an enzyme involved in nucleotide metabolism. Pathogenic variants the PRPS1 are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked non-syndromic sensorineural deafness (DFN2), Charcot-Marie-Tooth neuropathy type 5 (CMTX5) Arts syndrome. We present a Slovenian patient with due to novel pathogenic variant – c.424G>A gene, who presented gross motor impairment, severe deafness, balance issues, ataxia, frequent...
Izhodišča: Cistična fibroza (CF) je najpogostejša kronična avtosomno recesivno dedna bolezen belcev. Kaže se s prizadetostjo številnih organov, zato bolniki spremljajo v centrih CF specializiranim multidisciplinarnim timom strokovnjakov. Eden takih center Pediatrične klinike Ljubljana, kjer vodijo vsi otroci in mladostniki Sloveniji. Od ustanovitve centra dalje vodimo zbirko podatkov o bolnikih, ki nam pomoč pri analizi razmer primerjavi kakovosti obravnave naših bolnikov z drugimi...
Abstract Background The last data on asthma prevalence (13.9 and 17.4%) in children Slovenia is from 2002. aim to assess the environmental risk factors two selected schools Slovenia, as a pilot study for national cross-sectional survey. Methods We conducted primary Slovenia. Observed population were adolescents aged 6-7 12-13 years. outcome was current diagnosed by physician, reported parents. To get desired information we formulated new questionnaire which content validated. In School 1...