117 results on '"Osredkar, D."'
Search Results
2. P73 Newborn screening programs for spinal muscular atrophy worldwide: are we there yet?
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Vrščaj, E., primary, Dangouloff, T., additional, Osredkar, D., additional, and Servais, L., additional
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- 2023
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3. P86 Longitudinal multi-centric study to assess the digital outcomes issued from wearable magneto-inertial devices in ambulant DMD
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Vrščaj, E., primary, Jilkova, M., additional, Aragon-Gawinska, K., additional, Anghelescu, C., additional, Axente, M., additional, Poleur, M., additional, Daron, A., additional, Szabo, L., additional, Mirea, A., additional, Kodsy, S., additional, Saleh, A., additional, Osredkar, D., additional, Haberlova, J., additional, Potulska-Chromik, A., additional, Butoianu, N., additional, Strijbos, P., additional, Eggenspieler, D., additional, and Servais, L., additional
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- 2023
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4. Kernicterus☆
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Osredkar, D., primary and Ferriero, D.M., additional
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- 2017
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5. Management of refractory neonatal seizures
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Neubauer D, Soltirovska-Salamon A, Osredkar D, and Paro-Panjan D
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Pediatrics ,RJ1-570 - Abstract
David Neubauer,1 Aneta Soltirovska-Salamon,2 Damjan Osredkar,3 Darja Paro-Panjan21Department of Child, Adolescent and Developmental Neurology, 2Department of Neonatology, University Children's Hospital Ljubljana, Ljubljana, Slovenia; 3University of Oslo, Oslo, NorwayAbstract: The risk of seizures is highest during the neonatal period. Currently used therapies have limited efficacy and the treatment of neonatal seizures has not significantly changed in recent decades. Controversies still exist as to whether neonatal seizures can cause damage to the developing brain per se, or if the associated neurodevelopmental problems are caused by the underlying condition(s). However, during recent years, there has been substantial progress in the diagnostic possibilities for uncovering the etiologic cause of seizures. This article addresses the most common and important (treatable) etiologic causes of neonatal seizures, and discusses some of the diagnostic tools available. Current therapeutic approaches and their efficacy are discussed, with the aim to present the current knowledge on the topic.Keywords: neonatal seizures, electroencephalography, etiologic considerations, treatment options
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- 2014
6. Foetal amplitude-integrated electroencephalography: proof of principle of a novel foetal monitoring technique in adult volunteers
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Mires, S., primary, Kerr, R. S., additional, Denbow, M., additional, Dahnoun, N., additional, Tancock, S., additional, Osredkar, D., additional, and Chakkarapani, E., additional
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- 2022
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7. AB1144 COGNITIVE AND PSYCHOSOCIAL OUTCOME IN CHILDREN WITH MULTISYSTEM INFLAMMATORY SYNDROME FOLLOWING SARS-CoV-2 INFECTION
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Gosar, D., primary, Zajc Avramovič, M., additional, Emersic, N., additional, Šušterič, M., additional, Šömen, M. M., additional, Osredkar, D., additional, and Avcin, T., additional
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- 2022
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8. REGISTRIES AND CARE OF NMD
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Ogden, C., primary, Simon, S., additional, McKenna, J., additional, Cardiff, S., additional, Wilkins, J., additional, Watling, B., additional, Bullivant, J., additional, Das, J., additional, Leary, B., additional, Turner, C., additional, Tye, B., additional, Fowler, M., additional, Owens, P., additional, Braithwaite, L., additional, Woods, S., additional, Osredkar, D., additional, Palmafy, B., additional, Chamora, T., additional, Guglieri, M., additional, Campbell, C., additional, and Ambrosini, A., additional
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- 2021
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9. SMA CLINICAL DATA
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Dangouloff, T., primary, Vrscaj, E., additional, Servais, L., additional, and Osredkar, D., additional
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- 2021
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10. P150 Factors affecting the measurement variability of SV95C in ambulant patients with Duchenne muscular dystrophy
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Rogers, M., Motola, S., Eggenspieler, D., Poleur, M., Parinello, G., Lozeve, D., Danon, A., Szabo, L., Aragon-Gawińska, K., Potulska-Chromik, A., Butoianu, N., Anghelescu, C., Mirea, Osredkar, D., Vrščaj, E., Haberlova, J., Kodsy, S., Salah, A., Strijbos, P., and Servais, L.
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- 2023
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11. P145 Analysis of the natural evolution of SV95C in ambulant patients with Duchenne muscular dystrophy
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Rogers, M., Motola, S., Eggenspieler, D., Poleur, M., Parinello, G., Lozeve, D., Danon, A., Szabo, L., Aragon-Gawińska, K., Potulska-Chromik, A., Butoianu, N., Anghelescu, C., Mirea, Osredkar, D., Vrščaj, E., Golli, T., Haberlova, J., Kodsy, S., Salah, A., Strijbos, P., and Servais, L.
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- 2023
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12. Kinetic and pharmacological properties of [3H]-histamine transport into cultured type 1 astrocytes from neonatal rats
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Osredkar, D., Burnik-Papler, T., Pečavar, B., Kralj-Iglič, V., and Kržan, M.
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- 2009
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13. Kernicterus
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Osredkar, D., primary and Ferriero, D.M., additional
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- 2010
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14. Recovery of amplitude integrated electroencephalographic background patterns within 24 hours of perinatal asphyxia
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van Rooij, L G M, Toet, M C, Osredkar, D, van Huffelen, A C, Groenendaal, F, and de Vries, L S
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- 2005
15. SMA CLINICAL DATA: EP.254 Newborn screening for spinal muscular atrophy in the world today
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Dangouloff, T., Vrscaj, E., Servais, L., and Osredkar, D.
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- 2021
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16. Pineal cysts in a cohort of 143 children: Clinical and radiological data
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Kučan, R., primary, Hostnik, T., additional, Perković Benedik, M., additional, and Osredkar, D., additional
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- 2017
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17. Case report: Mutation in CHD 2 gene in a patient with neonatal onset epileptic encephalopathy
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Troha Gergeli, A., primary, Golli, T., additional, Bertok, S., additional, Neubauer, D., additional, Rener Primc, Z., additional, and Osredkar, D., additional
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- 2017
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18. VENTI ANNI DI GIURISPRUDENZA DELLA SUPREMA CORTE IN TEMA DI 'SOFFERENZA FETALE': ALLA RICERCA DI UNO STANDARD DI CAUSALITÀ
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INGRAVALLO, FRANCESCA, RIZZO, MARIA LIVIA, PELOTTI, SUSI, Osredkar D., Ingravallo F., Rizzo M.L., Osredkar D., and Pelotti S.
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responsabilità medica ,Corte di Cassazione ,sofferenza fetale - Abstract
Questo studio analizza la casistica giuriprudenziale della Suprema Corte di Cassazione penale in tema di morte fetale, morte neonatale o danni cerebrali per responsabilità professionale in ambito ostetrico, valutando se le decisioni della Corte siano correlate ad alcuni elementi di fatto (imputato/i, capo di imputazione, outcome del neonato, cause, condotta) e di diritto (richiamo ai principi della sentenza Franzese in tema di causalità omissiva).
- Published
- 2011
19. Recording conventional and amplitude-integrated EEG in neonatal intensive care unit
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Neubauer, D., primary, Osredkar, D., additional, Paro-Panjan, D., additional, Skofljanec, A., additional, and Derganc, M., additional
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- 2011
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20. Amplitude-integrated electroencephalography in newborns with hypoxic–ischemic encephalopathy
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Osredkar, D., primary, Toet, M.C., additional, van Rooij, L.G.M., additional, van Huffelen, A.C., additional, Groenendaal, F., additional, and de Vries, L.S., additional
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- 2007
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21. Sleep-wake cycling on amplitude-integrated electroencephalography term newborns with hypoxic-ischemic encephalopathy.
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Osredkar D, Toet MC, van Rooij LGM, van Huffelen AC, Groenendaal F, and de Vries LS
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OBJECTIVE: The objective of this amplitude-integrated electroencephalography (aEEG) study was to evaluate the influence of perinatal hypoxia-ischemia on sleep-wake cycling (SWC) in term newborns and assess whether characteristics of SWC are of predictive value for neurodevelopmental outcome. METHODS: From a consecutive series of newborns born during a 10-year period, the aEEG tracings of 171 term newborns with hypoxic-ischemic encephalopathy were assessed for the presence, time of onset, and quality of SWC. SWC patterns were categorized with regard to the background pattern on which they presented, as normal or abnormal SWC. RESULTS: SWC was seen in 95.4% of the surviving newborns and in 8.1% of those who died. The median time intervals from birth to onset of SWC were significantly different in newborns with hypoxic-ischemic encephalopathy grades I, II, and III (7, 33, and 62 hours, respectively). Newborns with seizure discharges developed SWC with a delay of 30.5 hours. Good outcome was associated with earlier onset of SWC and normal SWC pattern. The difference in the median Griffiths' developmental quotients in newborns who started SWC before/after 36 hours was 8.5 points. The good/poor neurodevelopmental outcome was predicted correctly by the onset of SWC before/after 36 hours in 82% of newborns. CONCLUSIONS: The presence, time of onset, and quality of SWC reflected the severity of the hypoxic-ischemic insult to which newborns were exposed. The time of onset of SWC has a predictive value for neurodevelopmental outcome. [ABSTRACT FROM AUTHOR]
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- 2005
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22. Diagnostic possibilities of video-electroencephalography and amplitude-integrated electroencephalography during early life
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David Neubauer, Osredkar, D., Paro-Panjan, D., and Derganc, M.
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ELECTROENCEPHALOGRAPHY – methods ,VIDEO RECORDING ,INTENSIVE CARE, NEONATAL – methods ,SEIZURES – diagnosis ,BRAIN DISEASES – diagnosis ,HYPOXIA-ISCHEMIA, BRAIN - diagnosis ,ELEKTROENCEFALOGRAFIJA – metode ,VIDEO SNIMANJE ,INTENZIVNA NOVOROĐENAČKA SKRB – metode ,KONVULZIJE – dijagnostika ,MOŽDANE BOLESTI – dijagnostika ,HIPOKSIČNO-ISHEMIČNO MOŽDANO OŠTEĆENJE – dijagnostika - Abstract
The main aim in managing sick newborns is to prevent or at least to minimize brain injury and to establish optimal neuro-developmental outcome. Electroencephalography (EEG) which reflects brain electrical activity, is regarded as the most reliable tool in recognition of possible central nervous system dysfunction (e. g. seizures) and in predicting outcome. The best surveillance of a neonate and young infant can be achieved by continuous functional monitoring, but long term EEG has limited availability in many centres and requires interpretation by a skilled paediatric electroencepahlographist. Therefore, amplitude-integrated EEG (aEEG) is a technique for simplified EEG monitoring which has an increasing clinical potential in neonatal intensive care. The article presents literature data as well as our own experience with diagnostic possibilities of both, standard (digitalized and video-assisted) EEG as well as aEEG and stresses the importance of using new generation machines that incorporate, along with aEEG signal, also a display of raw EEG for better seizure detection., Glavni ciljevi tijekom nadzora bolesne novorođenčadi su sprječavanje ili bar umanjivanje oštećenje mozga te postizanje optimalnog neurorazvojnog ishoda. Elektroencefalografiju, kao odraz električne aktivnosti mozga, smatramo najpouzdanijom metodom u prepoznavanju moguće disfunkcije središnjeg živčanog sustava (tj. konvulzija) kao i u predviđanju ishoda. Najbolje praćenje novorođenčadi i male djece možemo postići služeći se kontinuiranim funkcionalnim monitoringom, ali dugotrajni EEG ima ograničenu dostupnost u mnogim centrima i zahtijeva interpretaciju iskusnog pedijatra-elekroencefalografista. Tako je amplitudno integrirana EEG (aEEG) tehnika za pojednostavljeni EEG monitoring s rastućim kliničkim potencijalom u neonatalnoj intenzivnoj njezi. Ovaj rad prikazuje literaturne navode i podatke iz našeg osobnog iskustva s dijagnostičkim mogućnostima obje metode, standardnim (digitalnim, uz video) EEG-om, kao i aEEG-om te upućuje na važnost upotrebe aparata nove generacije koje na ekranu, uz aEEG signal, prikazuju i standardni EEG za uspješnije otkrivanje konvulzija.
23. A comparison of respiratory patterns in healthy term infants placed in car safety seats and beds.
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Cerar LK, Scirica CV, Gantar IS, Osredkar D, Neubauer D, and Kinane TB
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- 2009
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24. Inflammatory and neuroprotective proteins in the thalamus following traumatic brain injury in the rat
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Pilipović, Kristina, Župan, Željko, Župan, Gordana, Osredkar, D., Koritnik, B., and Pelko, M.
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nervous system ,thalamus ,inflammation ,neuroprotection ,traumatic brain injury ,rat ,nervous system diseases - Abstract
Thalamus is the brain region whose damage has been well documented after both human and experimental traumatic brain injury (TBI). Molecular mechanisms which lead to posttraumatic cell death or support the neuronal survival in the thalamus, in this entity, have not yet been fully characterized. Therefore, aim of this study was to determine the changes in several markers of inflammation and also cell protection following experimental TBI in the rat. Experiments were carried out on adult male rats. TBI of moderate severity was performed over the left parietal cortex using the lateral fiuid percussion brain injury model. Sham-operated animals were used as the control group. Rats were sacrificed 24 h after the TBI induction and the thalami were processed for the Western blot analyses of different protein expressions. TBI caused significant increases of the cyclooxygenase-2, inducible nitric oxide synthase and heat shock protein 70 expressions in the thalamus of rats with TBI in relation to the values registered in sham-operated animals. Thalamic expressions of inhibitory kappa B alpha and brain derived neurotrophic factor were unaffected by TBI in our experimental conditions.
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- 2011
25. Sex differences in early communication development reveal developmental windows for analyzing early brain maturation
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Težak, Dijana, Cepanec, Maja, Ljubešić, Marta, and Osredkar, D., Koritnik, B., Pelko, M.
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sex ,communication ,language ,gender - Abstract
There are many reports describing sex and gender differences in early language development (e.g., the appearance of the first word ; early lexical development). In contrast, there are few data on possible sex differences in early social communication skills. Several studies suggested a significant gender effect on early communication skills ; in addition, the prevalence of autistic spectrum disorder (ASD) as the most prominent social communication pathology is significantly higher in boys than in girls. In this study, we used the Communication and Symbolic Behavioral Scales Developmental Profile, Infant-Toddler Checklist (CSBS-DP ; Wetherby and Prizant, 2003 ; translated by M. Cepanec) to collect and analyze data on 1400 girls and boys aged 6 to 24 months. All subjects have been living in family setting in Croatia and had no reported medical disorders. We demonstrated that boys achieved lower scores on CSBS-DP Infant Toddler Checklist, especially with respect to speech and symbo lic domain. However, differences in social domain were less prominent. The most significant differences (in all domains) were noticed during two developmental windows: between 13 and 15 and between 20 and 21 months of age. These findings indicate that there may be sex-related differences in brain maturation, especially in language- and cognition-related regions of the cerebral cortex.
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- 2011
26. Early communication development in premature infants: do ex-preterms show autistic profile?
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Strmečki, Marija, Cepanec, Maja, Ljubešić, Marta, and Osredkar, D., Koritnik, B., Pelko, M.
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premature ,communication ,toddlers ,autism - Abstract
A number of risk factors can influence the developmental profile of prematurely born infants and children and thus contribute to the pathogenesis of motor and cognitive disabilities. By using Modified Checklist for Autism in Toddlers (M-CHAT), Limperopoulos et al. (2007) reported findings predictive of autism in 26% of ex-preterm toddlers (average age: 22 months). In this study, we used the Communication and Symbolic Behavioral Scales Developmental Profile Infant-Toddler Checklist (CSBS-DP ; Wetherby and Prizant, 2003 ; translated by M. Cepanec) to asses the developmental profile of 50 premature infants and toddlers who were delivered 4 to 10 weaks before the term. We have found that total scores considered to be below the normal values were detected in 16% of prematurely born children. While prematurely born children in general achieved lower scores in all domains (total score, social composite, speech composite, symbolic comosite), a significant difference in comparison to ch ildren born at term was found only for the symbolic composite and total score. These findings indicate that prematurely born children display the greatest delay in the cognitive domain, but no primary delay in the development of social communication skills. Thus, the screening scales for autism should be used with great care and one should especiall try to avoid the pitfall of applying it to infants and toddlers of inappropriate (too young) or even unknown developmental age.
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- 2011
27. Experimental ischemic stroke: changes in lipid peroxidation and antioxidant enzyme activities in rat cortex
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Mršić-Pelčić, Jasenka, Pilipović, Kristina, Vitezić, Dinko, Župan, Gordana, Osredkar, D., Koritnik, B., and Pelko, M.
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focal cerebral ischemia ,lipid peroxidation ,SOD ,GSH-Px ,cortex ,rat - Abstract
In the present study, we examined the effect of middle cerebral artery occlusion (MCAO) on lipid peroxidation and antioxidant enzymes (superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) activities in rat cortex. Right MCAO was induced in male Hannover Wistar rats (250-350 g) for 1 hr. After 23 hrs of reperfusion, ischemic animals were sacrificed and the levels of lipid peroxidation, SOD and GSH-Px activities were determined spectrophotometrically in the right and left cortex. Sham operated animals served as the control group. Focal cerebral ischemia significantly increased the level of thiobarbituric acid-reactive substances (TBARS) in the right cortex in comparison to the control group while SOD and GSH-Px activities were not affected. MCAO did not cause contralateral cortical damage since TBARS levels as well as antioxidant enzymes activities were not statistically different in the left cortex. Our results showed that transient focal cerebral ischemia caused oxidative lipid damage in the right cortex of rats after 23 hrs of reperfusion without affecting antioxidant enzyme activities. Changes in activities of above mentioned parameters in left cortex did not reach the level of significance.
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- 2011
28. MetaBakery: a Singularity implementation of bioBakery tools as a skeleton application for efficient HPC deconvolution of microbiome metagenomic sequencing data to machine learning ready information.
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Murovec B, Deutsch L, Osredkar D, and Stres B
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In this study, we present MetaBakery (http://metabakery.fe.uni-lj.si), an integrated application designed as a framework for synergistically executing the bioBakery workflow and associated utilities. MetaBakery streamlines the processing of any number of paired or unpaired fastq files, or a mixture of both, with optional compression (gzip, zip, bzip2, xz, or mixed) within a single run. MetaBakery uses programs such as KneadData (https://github.com/bioBakery/kneaddata), MetaPhlAn, HUMAnN and StrainPhlAn as well as integrated utilities and extends the original functionality of bioBakery. In particular, it includes MelonnPan for the prediction of metabolites and Mothur for calculation of microbial alpha diversity. Written in Python 3 and C++ the whole pipeline was encapsulated as Singularity container for efficient execution on various computing infrastructures, including large High-Performance Computing clusters. MetaBakery facilitates crash recovery, efficient re-execution upon parameter changes, and processing of large data sets through subset handling and is offered in three editions with bioBakery ingredients versions 4, 3 and 2 as versatile, transparent and well documented within the MetaBakery Users' Manual (http://metabakery.fe.uni-lj.si/metabakery_manual.pdf). It provides automatic handling of command line parameters, file formats and comprehensive hierarchical storage of output to simplify navigation and debugging. MetaBakery filters out potential human contamination and excludes samples with low read counts. It calculates estimates of alpha diversity and represents a comprehensive and augmented re-implementation of the bioBakery workflow. The robustness and flexibility of the system enables efficient exploration of changing parameters and input datasets, increasing its utility for microbiome analysis. Furthermore, we have shown that the MetaBakery tool can be used in modern biostatistical and machine learning approaches including large-scale microbiome studies., Competing Interests: LD was employed by The Nu B.V. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Murovec, Deutsch, Osredkar and Stres.)
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- 2024
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29. Antioxidant and neurodevelopmental gene polymorphisms in prematurely born individuals influence hypoxia-related oxidative stress.
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Goričar K, Debevec T, Dolžan V, Martin A, Pialoux V, Millet GP, and Osredkar D
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- Humans, Male, Young Adult, Infant, Newborn, Glutathione Peroxidase GPX1, Hypoxia-Inducible Factor 1, alpha Subunit genetics, Catalase genetics, Adult, Glutathione Peroxidase genetics, Infant, Premature, Nitrites metabolism, Malondialdehyde metabolism, Tyrosine genetics, Tyrosine analogs & derivatives, Premature Birth genetics, Oxidative Stress genetics, Hypoxia genetics, Antioxidants metabolism, Polymorphism, Single Nucleotide
- Abstract
Preterm born (PTB) infants are at risk for injuries related to oxidative stress. We investigated the association between antioxidant and neurodevelopmental gene polymorphisms and oxidative stress parameters in PTB male young adults and their term-born counterparts at rest and during exercise. Healthy young PTB (N = 22) and full-term (N = 15) males underwent graded exercise tests in normobaric normoxic (F
i O2 = 0.21) and hypoxic (Fi O2 = 0.13) conditions. CAT rs1001179 was associated with decrease in nitrites in the whole group and in PTB individuals (P = 0.017 and P = 0.043, respectively). GPX1 rs1050450 was associated with decrease in ferric reducing antioxidant power in the whole group and in full-term individuals (P = 0.017 and P = 0.021, respectively). HIF1A rs11549465 was associated with decrease in nitrotyrosine and increase in malondialdehyde (P = 0.022 and P = 0.018, respectively). NOTCH4 rs367398 was associated with increase in advanced oxidation protein products and nitrites (P = 0.002 and P = 0.004, respectively) in hypoxia. In normoxia, NOTCH4 rs367398 was associated with increase in malondialdehyde in the whole group (P = 0.043). BDNF rs6265 was associated with decreased nitrites/nitrates in the whole group and in PTB individuals (P = 0.009 and P = 0.043, respectively). Polymorphisms in investigated genes and PTB might influence oxidative stress response after exercise in normoxic or hypoxic conditions far beyond the neonatal period in young male adults., (© 2024. The Author(s).)- Published
- 2024
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30. Melatonin vs. dexmedetomidine for sleep induction in children before electroencephalography.
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Peganc Nunčič K, Neubauer D, Oražem Mrak J, Perković Benedik M, Mahne U, Bizjak N, Rener Primec Z, Šuštar N, Butenko T, Vrščaj E, and Osredkar D
- Abstract
Background and Objectives: In children requiring electroencephalography (EEG), sleep recording can provide crucial information. As EEG recordings during spontaneous sleep are not always possible, pharmacological sleep-inducing agents are sometimes required. The aim of the study was to evaluate safety and efficacy of melatonin (Mel) and dexmedetomidine (Dex; intranasal and sublingual application) for sleep induction prior to EEG., Methods: In this prospective randomized study, 156 consecutive patients aged 1-19 years were enrolled and randomized by draw into melatonin group (Mel; n = 54; dose: 0.1 mg/kg), dexmedetomidine (Dex) sublingual group (DexL; n = 51; dose: 3 mcg/kg) or dexmedetomidine intranasal group (DexN; n = 51; dose: 3 mcg/kg). We compared the groups in several parameters regarding efficacy and safety and also carried out a separate analysis for a subgroup of patients with complex behavioral problems., Results: Sleep was achieved in 93.6% of participants after the first application of the drug and in 99.4% after the application of another if needed. Mel was effective as the first drug in 83.3% and Dex in 99.0% ( p < 0.001); in the subgroup of patients with complex developmental problems Mel was effective in 73.4% and Dex in 100% ( p < 0.001). The patients fell asleep faster after intranasal application of Dex than after sublingual application ( p = 0.006). None of the patients had respiratory depression, bradycardia, desaturation, or hypotension., Conclusions: Mel and Dex are both safe for sleep induction prior to EEG recording in children. Dex is more effective compared to Mel in inducing sleep, also in the subgroup of children with complex behavioral problems., Clinical Trial Registration: Dexmedetomidine and Melatonin for Sleep Induction for EEG in Children, NCT04665453., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2024 Peganc Nunčič, Neubauer, Oražem Mrak, Perković Benedik, Mahne, Bizjak, Rener Primec, Šuštar, Butenko, Vrščaj and Osredkar.)
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- 2024
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31. Multiple sclerosis in a 4-year-old boy: a case report and literature review.
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Arkar U, Vipotnik Vesnaver T, Osredkar D, Perković Benedik M, and Bizjak N
- Abstract
Pediatric onset multiple sclerosis (POMS) in the very young is a very rare entity and presents a difficult diagnostic challenge due to overlapping signs and symptoms with other diseases. We present a 4-year-old boy who initially presented with right-sided hemiparesis and demyelinating lesions on MRI. Follow-up MRI examinations 3 and 6 months later revealed new demyelinating lesions. Ten months after initial presentation, he presented with right-sided hemiparesis, central facial nerve palsy on the right side and new demyelinating lesions on MRI. Two clinical events and new MRI lesions on follow-up MRIs confirmed the diagnosis of POMS. He was treated with rituximab and experienced no further relapses or radiological progression during the follow-up period., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Arkar, Vipotnik Vesnaver, Osredkar, Perković Benedik and Bizjak.)
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- 2024
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32. Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
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Armengol VD, Darras BT, Abulaban AA, Alshehri A, Barisic N, Ben-Omran T, Bernert G, Castiglioni C, Chien YH, Farrar MA, Kandawasvika G, Khadilkar S, Mah J, Marini-Bettolo C, Osredkar D, Pfeffer G, Piazzon FB, Pitarch Castellano I, Quijano-Roy S, Saito K, Shin JH, Vázquez-Costa JF, Walter MC, Wanigasinghe J, Xiong H, Griggs RC, and Roy B
- Abstract
Background and Objectives: Spinal muscular atrophy (SMA) is a neurodegenerative disorder manifesting with progressive muscle weakness and atrophy. SMA type 1 used to be fatal within the first 2 years of life, but is now treatable with therapies targeting splicing modification and gene replacement. Nusinersen, risdiplam, and onasemnogene abeparvovec-xioi improve survival, motor strength, endurance, and ability to thrive, allowing many patients to potentially attain a normal life; all have been recently approved by major regulatory agencies. Although these therapies have revolutionized the world of SMA, they are associated with a high economic burden, and access to these therapies is limited in some countries. The primary objective of this study was to compare the availability and implementation of treatment of SMA from different regions of the world., Methods: In this qualitative study, we surveyed health care providers from 21 countries regarding their experiences caring for patients with SMA. The main outcome measures were provider survey responses on newborn screening, drug availability/access, barriers to treatment, and related questions., Results: Twenty-four providers from 21 countries with decades of experience (mean 26 years) in treating patients with SMA responded to the survey. Nusinersen was the most available therapy for SMA. Our survey showed that while genetic testing is usually available, newborn screening is still unavailable in many countries. The provider-reported treatment cost also varied between countries, and economic burden was a major barrier in treating patients with SMA., Discussion: Overall, this survey highlights the global inequality in managing patients with SMA. The spread of newborn screening is essential in ensuring improved access to care for patients with SMA. With the advancement of neurotherapeutics, more genetic diseases will soon be treatable, and addressing the global inequality in clinical care will require novel approaches to mitigate such inequality in the future., Competing Interests: V.D. Armengol reports no disclosures relevant to the manuscript; B.T. Darras reports grants and non-financial support from, and being the FIREFISH Study Steering Committee Chair and an ad hoc scientific advisory board member for Roche/Genentech, which manufactures risdiplam, grant support from and being an ad hoc scientific board member for Biogen, which manufactures nusinersen; non-financial support from and being an ad hoc scientific board member for Novartis Gene Therapies (AveXis), which manufactures onasemnogene abeparvovec, grant support for the ENDEAR, CHERISH, and CS2/CS12 studies from Ionis Pharmaceuticals, grants from and being an ad hoc scientific board member for Sarepta Pharmaceuticals, grants from PTC Therapeutics, Fibrogen, Summit, the US NIH and National Institute of Neurological Disorders and Stroke, Slaney Family Fund for SMA, Spinal Muscular Atrophy Foundation, CureSMA, and Working on Walking Fund, being an ad hoc scientific board member for Vertex, and a data and safety monitoring board member for Amicus Inc; A.A. Abulaban reports no disclosures relevant to the manuscript; A. Alshehri reports no disclosures relevant to the manuscript; N. Barišić is investigator for Roche clinical trials, served as advisor or consultant, speaker or member of Advisory Boards for: Roche, Novartis, PTC, and Biogen/Medis-Adria; T. Ben-Omran reports no disclosures relevant to the manuscript; G. Bernert has served on Advisory boards for Avexis/Novartis Gene Therapies, Biogen, PTC, Roche, Pfizer and Santhera, he has received funding for travel or speaker honoraria for Biogen, Novartis, Pfizer, PTC, Roche, Santhera, and Merz, he has served as PI for DELOS, SIDEROS (SANTHERA), LELANTOS 1 + 2 (Fibrogen), and STRIDE Registry (PTC); C. Castiglioni has participated in advisory and educational activities by Biogen, Roche and Novartis and received honoraria for these activities; Y.H. Chien has served on advisory boards for Biogen and Novartis Gene Therapies and received honoraria for educational activities; M.A. Farrar is funded by a National Health and Medical Research Council of Australia Investigator grant (APP1194940), she has served on advisory boards for Biogen, Roche and Novartis Gene Therapies and received honoraria for educational activities; G. Kandawasvika reports no disclosures relevant to the manuscript; S. Khadilkar reports no disclosures relevant to the manuscript; J.K. Mah received research grants as PI in studies sponsored by Biogen, Roche, and the Alberta Children's Hospital Foundation; C. Marini-Bettolo reports participation in Scientific Advisory boards and teaching initiatives for Avexis, Biogen, and Roche, she is involved as an investigator in clinical trials from Avexis, and she is principal investigator for the UK SMA patient registry funded by SMA UK; D. Osredkar reports participation in scientific advisory boards and teaching initiatives for Biogen, Medis, Novartis Gene Therapies, PTC, Roche, and Serapta, and he is PI in studies sponsored partly by Biogen and PTC; G. Pfeffer reports no disclosures relevant to the manuscript; F. Piazzon reports no disclosures relevant to the manuscript; I. Pitarch-Castellano has participated in advisory and educational activities by Biogen, Roche and Novartis; S. Quijano-Roy is PI for clinical trials of Biogen (DEVOTE), Novartis Gene Therapies (SMART), and Roche (OLEOS), has served on advisory boards for Biogen, Novartis GT and Roche, and has received travel and speaker honoraria from Biogen Novartis and Roche; K. Saito is funded by the Practical Research Project for Rare/Intractable Diseases of the Japan Agency for Medical Research and Development, AMED (grant number: 22ek0109472h0003), and she is Principal Investigator for clinical trials of Biogen (DEVOTE), Novartis Gene Therapies, Inc./Novartis (SPR1NT, LT-002), and Chugai (Roche) (SUNFISH), has served on advisory boards for Biogen, Novartis Gene Therapies, Inc./Novartis, and Chugai (Roche), and has received honoraria from Biogen, Novartis and Chugai; J.H. Shin reports no disclosures relevant to the manuscript; J.F. Vázquez-Costa is funded by grants of the Instituto de Salud Carlos III (JR19/00030, PI Vázquez), served on advisory boards for Biogen and Roche and received travel and speaker honoraria from Biogen and Roche; M.C. Walter has served on advisory boards for Avexis, Biogen, Novartis, Roche, Santhera, Sarepta, PTC Therapeutics, Ultragenyx, Wave Sciences, received funding for Travel or Speaker Honoraria from Novartis, Biogen, Ultragenyx, Santhera, PTC Therapeutics, and worked as an ad hoc consultant for AskBio, Audentes Therapeutics, Biogen Pharma GmbH, Fulcrum Therapeutics, Novartis, PTC Therapeutics, Roche; J. Wanigasinghe receives support as principal investigator from NIH grant 1R21HD093563-01; H. Xiong is one of the investigators of Biogen (DEVOTE), Roche (FIREFISH, SUNFISH) and Novartis (STEER), but has no conflicts of interest related to this study; R.C. Griggs serves as Co-PI of a training grant from the NINDS for the Experimental Therapeutics of Neurological Diseases. He receives grant funding from the NIH, the Muscular Dystrophy Association, and the Parent Project for Muscular Dystrophy in support of clinical trials, and he also receives support from PTC Therapeutics, Sarepta Pharmaceuticals and Santhera Pharmaceutics for clinical trial data, and he serves as Chair of a DSMB for Solid Pharmaceuticals, Chair of the Research Advisory Committee of the American Brain Foundation, inaugural Chair of the American Academy of Neurology Section on Experimental Neurotherapeutics, and he receives compensation as an Editor of Cecil Textbook of Medicine; B. Roy has served as a consultant for Alexion Pharmaceuticals (now part of AstraZeneca), Takeda Pharmaceuticals, and argenx, but he has no conflicts directly related to this work. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp. TAKE-HOME POINTS → Stark global disparities in access to disease-modifying therapy (DMT) for spinal muscular atrophy (SMA) currently exist, and these disparities are not driven simply by differences in countries' wealth.→ The economic burden of DMT was identified by a majority of survey respondents as a barrier to treatment of SMA, with several other barriers also noted.→ Most respondents reported access to genetic testing, but newborn screening is unavailable in several countries included in this survey and is only implemented regionally in others.→ Increased awareness of unequal access to treatment is the first step toward mitigating inequities in rare neurologic diseases., (© 2023 American Academy of Neurology.)
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- 2024
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33. Corrigendum: Prognostic value of various diagnostic methods for long-term outcome of newborns after hypoxic-ischemic encephalopathy treated with hypothermia.
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Troha Gergeli A, Škofljanec A, Neubauer D, Paro Panjan D, Kodrič J, and Osredkar D
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[This corrects the article DOI: 10.3389/fped.2022.856615.]., (© 2023 Troha Gergeli, Škofljanec, Neubauer, Paro Panjan, Kodrič and Osredkar.)
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- 2023
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34. High incidence of multisystem inflammatory syndrome and other autoimmune diseases after SARS-CoV-2 infection compared to COVID-19 vaccination in children and adolescents in south central Europe.
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Bizjak M, Emeršič N, Zajc Avramovič M, Barbone F, Ronchese F, Della Paolera S, Conversano E, Amoroso S, Vidoni M, Vesel Tajnšek T, Mlakar G, Berce V, Markelj G, Plankar Srovin T, Golli T, Osredkar D, Koren Jeverica A, Toplak N, Pokorn M, Avšič Županc T, Ihan A, Fafangel M, Taddio A, and Avčin T
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- Humans, Adolescent, Child, Incidence, COVID-19 Vaccines, SARS-CoV-2, Prospective Studies, Reinfection, Europe, Vaccination, COVID-19 epidemiology, COVID-19 prevention & control, Connective Tissue Diseases, Autoimmune Diseases epidemiology
- Abstract
Objectives: To estimate the incidence and describe the spectrum of inflammatory and autoimmune diseases linked to SARS-CoV-2 infection and COVID-19 vaccination in children from two neighbouring south central European countries., Methods: We performed a multi-centre prospective cohort study of children under 18 years diagnosed with inflammatory/autoimmune diseases linked to SARS-CoV-2 infection or COVID-19 vaccination, who were admitted to the paediatric tertiary care hospitals in Slovenia and Friuli Venezia Giulia, Italy, from January 1, 2020, to December 31, 2021. Disease incidence was calculated based on laboratory-confirmed cases only., Results: Inflammatory and autoimmune diseases linked to SARS-CoV-2 were diagnosed in 192 children (127 laboratory-confirmed), of whom 112 had multisystem inflammatory syndrome (MIS-C), followed by vasculitis, neurological and cardiac diseases. Calculated risk of MIS-C was 1 in 860 children after SARS-CoV-2 infection and cumulative incidence of MIS-C was 18.3/100,000 of all children. Fifteen children had severe COVID-19. Two patients with MIS-C and a patient with myositis presented after COVID-19 vaccination. All 3 had at presentation also a serologically proven recent SARS-CoV-2 infection. After MIS-C, nine patients were vaccinated against COVID-19 and 25 patients had a SARS-CoV-2 reinfection, without recurrence of MIS-C., Conclusions: Autoimmune diseases following SARS-CoV-2 infection in children were 8.5 times as common as severe COVID-19. MIS-C was the most common manifestation and its incidence in this predominantly white population was higher than previously reported. MIS-C does not seem to recur after SARS-CoV-2 reinfection or COVID-19 vaccination. Autoimmune diseases were much more common after SARS-CoV-2 infection than after COVID-19 vaccination.
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- 2023
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35. Restraint stress during neonatal hypoxia-ischemia alters brain injury following normothermia and hypothermia.
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Gundersen JK, Sabir H, Wood TR, Osredkar D, Falck M, Loeberg EM, Walloe L, Menassa DA, and Thoresen M
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- Animals, Rats, Animals, Newborn, Brain-Derived Neurotrophic Factor, Rats, Wistar, Ischemia pathology, Hypoxia pathology, Brain, Hypothermia, Hypothermia, Induced, Hypoxia-Ischemia, Brain therapy, Brain Injuries etiology, Brain Injuries pathology, Brain Injuries therapy
- Abstract
Rodent models of neonatal hypoxic-ischemic (HI) injury require a subset of animals to be immobilized for continuous temperature monitoring during the insult and subsequent treatment. Restrained animals are discarded from the analysis due to the effect of restraint on the brain injury as first demonstrated by Thoresen et al 1996. However, the effects of restraint on responses to hypothermic (HT) post-insult therapy are not well described. We examine the effects of restraint associated with different probe placements on HI brain injury. We have conducted a meta-analysis of 23 experiments comparing probe rats (skin n = 42, rectal n = 35) and free-moving matched non-probe controls (n = 80) that underwent HI injury (left common carotid artery ligation and 90 min 8% O
2 ) at postnatal day 7 (P7), followed by 5 h of NT (37°C) or HT (32°C). On P14, brain regions were analyzed for injury (by neuropathology and area loss), microglial reactivity and brain-derived neurotrophic factor (BDNF). HI injury was mitigated in NT skin and rectal probe rats, with greater neuroprotection among the rectal probe rats. Following HT, the skin probe rats maintained the restraint-associated neuroprotection, while brain injury was significantly exacerbated among the rectal probe rats. Microglial reactivity strongly correlated with the acquired injury, with no detectable difference between the groups. Likewise, we observed no differences in BDNF signal intensity. Our findings suggest a biphasic neuroprotection from restraint stress, which becomes detrimental in combination with HT and the presumed discomfort from the rectal probe. This finding is useful in highlighting unforeseen effects of common experimental designs or routine clinical management., (© 2023 The Authors. Physiological Reports published by Wiley Periodicals LLC on behalf of The Physiological Society and the American Physiological Society.)- Published
- 2023
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36. Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
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Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, and Osredkar D
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- Pregnancy, Female, Humans, Codon, Nonsense, Phenotype, Syndrome, Genotype, Mutation, beta Catenin genetics, Intellectual Disability complications, Eye Abnormalities genetics
- Abstract
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the present study is to systematically review the available data on the prevalence of clinical manifestations and to evaluate the correlation between phenotype and genotype in published cases of patients with CTNNB1 Syndrome. Studies were identified by systematic searches of four major databases. Information was collected on patients' genetic mutations, prenatal and neonatal problems, head circumference, muscle tone, EEG and MRI results, dysmorphic features, eye abnormalities, early development, language and comprehension, behavioral characteristics, and additional clinical problems. In addition, the mutations were classified into five groups according to the severity of symptoms. The study showed wide genotypic and phenotypic variability in patients with CTNNB1 Syndrome. The most common moderate-severe phenotype manifested in facial dysmorphisms, microcephaly, various motor disabilities, language and cognitive impairments, and behavioral abnormalities (e.g., autistic-like or aggressive behavior). Nonsense and missense mutations occurring in exons 14 and 15 were classified in the normal clinical outcome category/group because they had presented an otherwise normal phenotype, except for eye abnormalities. A milder phenotype was also observed with missense and nonsense mutations in exon 13. The autosomal dominant CTNNB1 Syndrome encompasses a wide spectrum of clinical features, ranging from normal to severe. While mutations cannot be more generally categorized by location, it is generally observed that the C-terminal protein region (exons 13, 14, 15) correlates with a milder phenotype.
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- 2022
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37. Difficult to treat absence seizures in children: A single-center retrospective study.
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Gregorčič S, Hrovat J, Bizjak N, Rener Primec Z, Hostnik T, Stres B, Perković Benedik M, and Osredkar D
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Objectives: The aim of this study was to analyse the characteristics of typical absence seizures (AS), myoclonic AS and AS with eyelid myoclonia in children and to find associations between these characteristics and difficult to treat absence seizures (DTAS)., Methods: This was a single-center retrospective study. Electronic health records of pediatric patients with a clinical diagnosis of AS treated at a single tertiary epilepsy center between January 2013 and June 2020 were reviewed. Clinical characteristics, seizure information, ASM, and therapeutic response of patients were recorded. All patients were followed up for at least 1 year. DTAS were defined as failure to achieve remission after treatment with at least 2 anti-seizure medications (ASM), regardless of whether remission was achieved eventually in the study period., Results: Data from 131 patients were available for analysis. Remission was achieved after the first ASM treatment in 81 (61.8%) patients, and eventually in 120 (91.6%) during the study period. Epilepsy was classified as DTAS in 18 (13.7%) patients. AS were more often difficult to treat in patients with myoclonic AS and AS with eyelid myoclonia (40.0%), compared with patients with typical AS (11.4%; p = 0.012, 95% CI 1.480-25.732). A positive family history of epilepsy ( p = 0.046; 95% CI 1.021-8.572), a higher seizure frequency ( p = 0.023, 95% CI 1.009-1.126) prior to ASM treatment, and longer time between seizure onset and treatment onset ( p = 0.026; 95% CI 1.006-1.099) were also associated with DTAS., Significance: Our study suggests that several clinical characteristics of AS are associated with DTAS. One of these was the time between onset of AS and initiation of ASM treatment, which can be shortened with better care, suggesting that early diagnosis and treatment may improve prognosis in pediatric patients with AS. These findings remain to be confirmed in larger prospective studies., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Gregorčič, Hrovat, Bizjak, Rener Primec, Hostnik, Stres, Perković Benedik and Osredkar.)
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- 2022
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38. Urine and Fecal 1 H-NMR Metabolomes Differ Significantly between Pre-Term and Full-Term Born Physically Fit Healthy Adult Males.
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Deutsch L, Debevec T, Millet GP, Osredkar D, Opara S, Šket R, Murovec B, Mramor M, Plavec J, and Stres B
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Preterm birth (before 37 weeks gestation) accounts for ~10% of births worldwide and remains one of the leading causes of death in children under 5 years of age. Preterm born adults have been consistently shown to be at an increased risk for chronic disorders including cardiovascular, endocrine/metabolic, respiratory, renal, neurologic, and psychiatric disorders that result in increased death risk. Oxidative stress was shown to be an important risk factor for hypertension, metabolic syndrome and lung disease (reduced pulmonary function, long-term obstructive pulmonary disease, respiratory infections, and sleep disturbances). The aim of this study was to explore the differences between preterm and full-term male participants' levels of urine and fecal proton nuclear magnetic resonance (
1 H-NMR) metabolomes, during rest and exercise in normoxia and hypoxia and to assess general differences in human gut-microbiomes through metagenomics at the level of taxonomy, diversity, functional genes, enzymatic reactions, metabolic pathways and predicted gut metabolites. Significant differences existed between the two groups based on the analysis of1 H-NMR urine and fecal metabolomes and their respective metabolic pathways, enabling the elucidation of a complex set of microbiome related metabolic biomarkers, supporting the idea of distinct host-microbiome interactions between the two groups and enabling the efficient classification of samples; however, this could not be directed to specific taxonomic characteristics.- Published
- 2022
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39. Dysmature patterns of newborn EEG recordings: Biological markers of transitory brain dysfunction or brain injury.
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Rener-Primec Z, Neubauer D, and Osredkar D
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- Biomarkers, Brain, Child, Child, Preschool, Electroencephalography, Gestational Age, Humans, Infant, Infant, Newborn, Brain Injuries, Infant, Newborn, Diseases
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Perinatal hypoxic-ischemic brain injury is a major cause of non-progressive neurological deficits in children. Dysmature patterns can be seen in newborns' electroencephalograms (EEGs) and may have prognostic value for long-term outcomes., Objective: To investigate the prognostic value of dysmature EEG patterns in term or near-term newborns., Methods: Neonates with dysmature patterns in their first neonatal EEG, assessed during a 6-year period from January 2010 to December 2015, were included in the study. Their outcomes at their follow-ups in June 2019 (at the age of 3 years or more) were assessed, and the presence of neurological deficits and/or epilepsy was noted., Results: We identified 347 neonates with video-EEG recordings during the observed period, in which 10 neonates had dysmature patterns in their first EEG. Eight were born at term and two were born late preterms, born at the 35 and 36-week gestational age. The reasons for admission were HIE grade I in 2 patients, grade II in 6 neonates, and heart problems in 2 patients. The second EEG was recorded at different time intervals, in 7 infants between 1 and 6 weeks; three infants had second EEG much later and were excluded from the study. Six of seven infants showed normal background activity (BA), and five had sharp waves over different regions, all six had normal developmental outcomes. One child with dysrhythmic pattern in the second EEG was diagnosed with genetic encephalopathy, developed spastic cerebral palsy and died due to severe pneumonia at the age of 6 years., Conclusion: Dysmature patterns may reflect transitory brain dysfunctions. Neonatal EEG tests remain reliable and important diagnostic tool in the very first weeks of life, particularly due to the availability of sequential EEG recordings and interpretations., (© 2022 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.)
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- 2022
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40. Prognostic Value of Various Diagnostic Methods for Long-Term Outcome of Newborns After Hypoxic-Ischemic Encephalopathy Treated With Hypothermia.
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Troha Gergeli A, Škofljanec A, Neubauer D, Paro Panjan D, Kodrič J, and Osredkar D
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Introduction: Prediction of outcome in newborns with hypoxic-ischemic encephalopathy (HIE) has been modulated by hypothermia treatment (HT). We assessed the predictive value of diagnostic methods commonly used in neonates with HIE for short-term neurodevelopmental outcome and long-term neurological outcome., Materials and Methods: This longitudinal cohort study followed up 50 term newborns who underwent HT after HIE between July 2006 and August 2015, until preschool age. We estimated sensitivity and specificity for short-term neurodevelopmental outcome at 18 months and long-term neurological outcome at five years based on Amiel-Tison Neurological Assessment (ATNA), electroencephalography (EEG), and magnetic resonance imaging (MRI) performed in the neonatal period., Results: The accuracy of all neonatal methods tested was higher for long-term neurological outcome compared to the predictive accuracy for short-term neurodevelopmental outcome at 18-24 months. Sensitivity and specificity in predicting unfavorable long-term neurological outcome were: MRI (sensitivity 1.0 [95%CI 0.96-1.0]; specificity 0.91 [95%CI 0.86-1.0]), EEG (sensitivity 0.94 [95%CI 0.71-1.0]; specificity 1.0 [95% CI 0.89-1.0]), and ATNA (sensitivity 0.94 [95%CI 0.71-1.0]; specificity 0.91 [95%CI 0.76-0.98])., Conclusion: MRI is a powerful predictor of long-term neurological outcome when performed in the first week after HIE in HT treated infants, as are EEG and ATNA performed in the second or third week postnatally., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Troha Gergeli, Škofljanec, Neubauer, Paro Panjan, Kodrič and Osredkar.)
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- 2022
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41. Children with Arteriovenous Malformations of the Central Nervous System: A Retrospective Study of 12 Pediatric Cases from a Single Tertiary Center in Slovenia.
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Arkar U, Vipotnik Vesnaver T, Troha Gergeli A, Bizjak N, and Osredkar D
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- Adolescent, Child, Child, Preschool, Female, Follow-Up Studies, Humans, Incidence, Infant, Infant, Newborn, Intracranial Arteriovenous Malformations epidemiology, Male, Retrospective Studies, Slovenia epidemiology, Treatment Outcome, Embolization, Therapeutic methods, Intracranial Arteriovenous Malformations therapy, Radiosurgery methods, Tertiary Care Centers
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BACKGROUND Arteriovenous malformation (AVM) of the central nervous system (CNS) is a developmental condition that consists of a focal mass of interconnected veins and arteries. This retrospective study was conducted at the only tertiary center in Slovenia and included 12 pediatric cases of AVM of the CNS, diagnosed between 2000 and 2020. MATERIAL AND METHODS The patients were collected based on the ICD coding system. All available medical documentation was reviewed. RESULTS Our cohort included 6 boys and 6 girls. The mean age of patients was 9.1 years, range 1 month to 16.3 years. The estimated incidence of pediatric AVM of the CNS in Slovenia is 0.22/100 000 children per year. Ten patients had brain AVM and 2 patients had spinal AVM. At first presentation, 7 patients presented with intracerebral hemorrhage, 2 with focal neurological deficits, 1 with epilepsy, 1 with chronic headache, and 1 patient was asymptomatic. Two patients had their first hemorrhage after an already-established diagnosis of AVM. Endovascular embolization was performed in 50%, surgical resection in 33%, and conservative treatment in 17% of patients. Five patients had no residual neurological sequelae, 6 had some neurological deficits, and 1 patient died. Complete obliteration of AVM was achieved in 3 patients treated with surgery. They all had a favorable outcome, with no or mild deficit. CONCLUSIONS The study findings support that early diagnosis and management are required to prevent neurological deterioration and vessel rupture from AVM. Endovascular embolization was the most commonly used procedure. Complete obliteration was associated with good neurological outcome.
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- 2022
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42. Post-exercise accumulation of interstitial lung water is greater in hypobaric than normobaric hypoxia in adults born prematurely.
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Debevec T, Poussel M, Osredkar D, Willis SJ, Sartori C, and Millet GP
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- Adult, Altitude, Body Water diagnostic imaging, Female, Humans, Infant, Newborn, Lung diagnostic imaging, Male, Ultrasonography, Young Adult, Exercise physiology, Hypoxia physiopathology, Infant, Premature physiology, Pulmonary Edema physiopathology
- Abstract
We aimed to gauge the interstitial lung water accumulation following moderate-intensity exercise under normobaric and hypobaric hypoxic conditions in a group of preterm born but otherwise healthy young adults. Sixteen pre-term-born individuals (age = 21±2yrs.; gestational age = 29±3wk.; birth weight = 1160±273 g) underwent two 8 -h hypoxic/altitude exposures in a cross-over manner: 1) Normobaric hypoxic exposure (NH; F
I O2 = 0.142±0.001; PI O2 = 90.6±0.9 mmHg) 2) Hypobaric hypoxic exposure (HH; terrestrial high-altitude 3840 m; PI O2 = 90.2±0.5 mmHg). Interstitial lung water was assessed via quantification of B-Lines (using lung ultrasound) before (normoxia) and after 4-h and 8-h of respective exposures. At each time point, B-Lines were quantified before (Pre) and immediately after (Post) a 6-min moderate-intensity exercise. The baseline B-lines count were comparable between both conditions (P = 0.191). A higher B-lines count was noted at Pre-H4 in HH versus NH (P = 0.0420). At Post-H8 B-lines score was significantly higher in HH (4.6 ± 1.6) than in NH (3.1 ± 1.4; P = 0.0073). Furthermore, at this time point, a significantly higher number of individuals with B-line scores ≥5 was observed in HH (n = 7) than in NH (n = 3; P = 0.0420). These findings suggest that short moderate-intensity exercise provokes a significant increase in the interstitial lung water accumulation after 8 h of exposure to terrestrial but not simulated altitude (≈3840 m) in prematurely born adults. Further work is needed to elucidate the exact mechanisms of (moderate-intensity) exercise-induced interstitial lung water accumulation in this population and directly compare the obtained data to full-term born adults., (Copyright © 2021 Elsevier B.V. All rights reserved.)- Published
- 2022
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43. The impact of birthweight on the development of cerebral palsy: A population-based matched case-control study.
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Esih K, Trunk T, Osredkar D, Verdenik I, Neubauer D, Troha Gergeli A, and Lučovnik M
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- Birth Weight, Case-Control Studies, Child, Child, Preschool, Female, Gestational Age, Humans, Infant, Newborn, Infant, Small for Gestational Age, Pregnancy, Retrospective Studies, Risk Factors, Cerebral Palsy epidemiology, Cerebral Palsy etiology
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Background: Cerebral palsy (CP) is a common cause of physical impairment in children, especially in newborns who are small for gestational age (SGA)., Aims: The aim of our study was to investigate the association between birth weight and the risk of developing CP, controlling for gestational age and plurality., Study Design: This retrospective, observational, case-control study was based on Slovenian Registry of Cerebral Palsy (SRCP) and Slovenian National Perinatal Information System (NPIS) data for the period 2002 to 2010., Subjects: For each pregnancy that resulted in the birth of the newborn(s) who later developed CP (n = 254), three pregnancies with newborns who did not develop CP (n = 762) were selected and matched for gestational age and plurality., Outcome Measures: Diagnosis of CP was made at age 5 years or older by a developmental pediatrician trained in child neurology or a child neurologist using standard measures., Results: Risk of CP increased progressively as birth weight percentiles fell below the 50th centile, with children in the lowest percentiles at greatest risk. Birth weight percentiles traditionally classified as SGA were an independent risk factor for developing CP, with an odds ratio of 2.43 (95% confidence interval 1.57, 3.73)., Conclusions: The results of this study suggest that the risk for developing CP is inversely related to birth weight, even at birth weights that do not meet the standard definitions of SGA., Synopsis - Study Question: Does birth weight represent a potential risk factor for the development of cerebral palsy (CP) when controlling for gestational age and plurality?, What's Already Known: Newborns who are small for gestational age (SGA) are at higher risk of developing CP according to published studies. However, different definitions of SGA (birth weight below the 10th, 5th, or 3rd percentile for gestational age) have been used by researchers and clinicians, making it difficult to compare studies., What This Study Adds: This study suggests that the risk of developing CP is inversely related to birth weight, even at birth weights that do not meet standard definitions of SGA., (Copyright © 2021 Elsevier B.V. All rights reserved.)
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- 2022
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44. Effects of Pre-Term Birth on the Cardio-Respiratory Responses to Hypoxic Exercise in Children.
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Narang BJ, Manferdelli G, Kepic K, Sotiridis A, Osredkar D, Bourdillon N, Millet GP, and Debevec T
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Pre-term birth is associated with numerous cardio-respiratory sequelae in children. Whether these impairments impact the responses to exercise in normoxia or hypoxia remains to be established. Fourteen prematurely-born (PREM) (Mean ± SD; gestational age 29 ± 2 weeks; age 9.5 ± 0.3 years), and 15 full-term children (CONT) (gestational age 39 ± 1 weeks; age 9.7 ± 0.9 years), underwent incremental exercise tests to exhaustion in normoxia (FiO
2 = 20.9%) and normobaric hypoxia (FiO2 = 13.2%) on a cycle ergometer. Cardio-respiratory variables were measured throughout. Peak power output was higher in normoxia than hypoxia (103 ± 17 vs. 77 ± 18 W; p < 0.001), with no difference between CONT and PREM (94 ± 23 vs. 86 ± 19 W; p = 0.154). VO2 peak was higher in normoxia than hypoxia in CONT (50.8 ± 7.2 vs. 43.8 ± 9.9 mL·kg-1 ·min-1 ; p < 0.001) but not in PREM (48.1 ± 7.5 vs. 45.0 ± 6.8 mL·kg-1 ·min-1 ; p = 0.137; interaction p = 0.044). Higher peak heart rate (187 ± 11 vs. 180 ± 10 bpm; p = 0.005) and lower stroke volume (72 ± 13 vs. 77 ± 14 mL; p = 0.004) were observed in normoxia versus hypoxia in CONT, with no such differences in PREM ( p = 0.218 and >0.999, respectively). In conclusion, premature birth does not appear to exacerbate the negative effect of hypoxia on exercise capacity in children. Further research is warranted to identify whether prematurity elicits a protective effect, and to clarify the potential underlying mechanisms.- Published
- 2022
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45. Long-Term Effects of Prematurity on Resting Ventilatory Response to Hypercapnia.
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Manferdelli G, Narang BJ, Poussel M, Osredkar D, Millet GP, and Debevec T
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- Adult, Carbon Dioxide, Humans, Infant, Newborn, Partial Pressure, Respiration, Rest, Hypercapnia, Pulmonary Ventilation
- Abstract
Manferdelli, Giorgio, Benjamin J. Narang, Mathias Poussel, Damjan Osredkar, Grégoire P. Millet, and Tadej Debevec. Long-term effects of prematurity on resting ventilatory response to hypercapnia. High Alt Med Biol . 22:420-425, 2021. Background: This study investigated the resting ventilatory response to hypercapnia in prematurely born adults. Materials and Methods: Seventeen preterm and fourteen full-term adults were exposed to normoxic hypercapnia (two 5-minute periods at 3% and 6% carbon dioxide [CO
2 ] interspersed by 5-minute in normoxia). Pulmonary ventilation ([Formula: see text]) and end-tidal partial pressure of CO2 (Petco2 ) were measured continuously. Results: No difference in lung function was observed between preterm and full-term adults. Petco2 was lower in preterm than in full-term adults ( p < 0.05) during normoxia. During exposure to 3% CO2 , both [Formula: see text] and Petco2 increased in a similar way in preterm and full-term adults. However, at the end of the 6% CO2 period, there was a significantly higher [Formula: see text] in preterm compared with full-term adults (30.2 ± 7.5 vs. 23.7 ± 4.5 L/min, p < 0.0001), whereas no difference was observed for Petco2 (46.9 ± 2.1 vs. 50.6 ± 2.1 L/min, p = 0.99). Breath frequency was higher in preterm than in full-term adults (17.9 ± 4.0 vs. 12.8 ± 3.5 b/min, p < 0.01) during 6% CO2 exposure. Conclusions: Although data suggest that prematurity results in resting hypocapnia, the exact underlying mechanisms remain to be elucidated. Moreover, preterm adults seem to have increased chemosensitivity to hypercapnia.- Published
- 2021
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46. Children with cavernous malformations of the central nervous system.
- Author
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Arkar U, Vipotnik Vesnaver T, Maver A, Perković Benedik M, Peterlin B, and Osredkar D
- Subjects
- Adolescent, Central Nervous System, Child, Child, Preschool, Humans, Infant, Infant, Newborn, KRIT1 Protein genetics, Mutation, Slovenia, Hemangioma, Cavernous, Central Nervous System diagnostic imaging, Hemangioma, Cavernous, Central Nervous System genetics
- Abstract
Background: Cavernous malformations (CM) of the central nervous system (CNS) are a rare pathology in the pediatric population that may present with an acute onset of severe neurological symptoms., Objective: The aim of our study was to evaluate the clinical presentation, family history, genetic background, radiological features, treatment and outcome of children with CM., Methods: This observational cohort study included all children with CM of the CNS diagnosed in the period 2000-2020 at University Children's Hospital in Ljubljana, Slovenia. Whole exome sequencing was utilized., Results: We identified a cohort of 20 children with CM (mean age 9.3 years, range: 10 days-18.4 years). In our cohort, 16 patients were symptomatic and 4 were asymptomatic; 7 patients had a solitary lesion, and 13 had multiple lesions. Children with multiple lesions become symptomatic at an earlier age compared with children with solitary lesions. We identified five families with familiar cavernous malformation (FCM) syndrome affecting two or more generations; FCM represented 65% of all pediatric cases identified in our study. We confirmed a mutation in FCM associated genes in all but one patient with multiple lesions, with the KRIT1 mutation being the most common., Conclusion: Multiple CM lesions and symptomatic brainstem lesions are associated with worse neurological deficits in pediatric patients. Not all cases of multiple lesions can be linked to mutations in KRIT1, CCM2, or PDCD10, which may indicate that there are other as yet unidentified genes associated with FCM., (Copyright © 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2021
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47. Reye Syndrome with Severe Hyperammonemia and a Good Neurological Outcome.
- Author
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Pribožič L, Žerjav Tanšek M, Herga P, Osredkar D, Rajtar Osredkar S, Vidmar I, Repič Lampret B, Klemenčič S, Bratina N, Battelino T, and Groselj U
- Subjects
- Aspirin, Child, Preschool, Humans, Male, Brain Edema etiology, Hyperammonemia diagnosis, Hyperammonemia etiology, Hyperammonemia therapy, Liver Failure, Acute, Reye Syndrome diagnosis
- Abstract
BACKGROUND Reye syndrome (RS) is a rare life-threatening condition combining acute noninflammatory encephalopathy and acute liver failure with an absence of defined etiology. We present a case of fulminant RS that had a good neurological outcome. CASE REPORT A 4-year-old previously healthy boy had no history of acetylsalicylic acid (ASA) use, nor had he been diagnosed with any inborn errors of metabolism. RS was preceded by a mild viral infection, possibly caused by human bocavirus, which has not been previously implicated in RS. He presented with a combination of a very high concentration of ammonia but only mildly elevated aminotransferases and mild hypoglycemia. Computed tomography (CT) of the head additionally showed diffuse cerebral edema with tentorial herniation. The extensive metabolic evaluation did not confirm any inborn errors of metabolism to explain the etiology. We provided optimal treatment of severe hyperammonemia (>500 µmol/L) and cerebral edema, including high doses of arginine chloride, sodium benzoate, hemodialysis, mild hypothermia, and supportive care. He has been followed up for over 4 years. The patient recovered completely, with no long-term psycho-cognitive or neurological sequelae. CONCLUSIONS Although extremely rare, hyperammonemia and RS should be considered in cases of an acute encephalopathy to be treated as soon and as decisively as possible to enable a good outcome.
- Published
- 2021
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48. Clinical and Radiological Characteristics of Non-Benign Pineal Cyst Lesions in Children.
- Author
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Arkar U, Kučan R, Perković Benedik M, Hostnik T, Vipotnik Vesnaver T, Loboda T, Bošnjak R, and Osredkar D
- Abstract
Background: With the increasing availability and advances in brain imaging, pineal cyst lesions (PCL) are becoming a common finding in the pediatric population. In the absence of evidence-based guidelines, optimal diagnostic and therapeutic approaches have not been established, and there is a risk of under- or overtreatment of these patients. Objectives: The aim of our study was to evaluate the clinical presentation and radiological features of PCL in a cohort of pediatric patients and to identify clinical parameters more commonly associated with neoplasms in the pineal region. In addition, the prevalence of PCL in the pediatric population of Slovenia was estimated. Methods: In this observational, cohort study, children treated at University Children's Hospital, Ljubljana, Slovenia in the period 1997-2016 were included if PCL was found on brain imaging. We analyzed indications for referral to a neurologist, clinical signs and symptoms, radiological features, treatment and outcome. Results: The cohort consisted of 143 children with PCL. Pineocytoma was suspected in 31 children (21.7%). Six children underwent surgery - pineocytoma was confirmed in two cases and germinoma in one (2/3 of these children had signs of increased intracranial pressure (ICP), while PCL was benign in the remaining 4 cases. Only 2 PCL enlarged during the study period, both <2mm, none of these children developed neoplasm. Two children had PCL >20mm in diameter; both showed signs of increased ICP, one patient was found to have a germinoma of the pineal region, while the other had no neoplasm. Conclusions: Most PCL do not change their features during radiological follow-up and even atypical PCL are very rarely associated with a malignant neoplasm of the pineal region. A PCL larger than 20 mm and signs of increased ICP were identified as potential markers for selecting patients at risk., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Arkar, Kučan, Perković Benedik, Hostnik, Vipotnik Vesnaver, Loboda, Bošnjak and Osredkar.)
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- 2021
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49. Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome.
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Žakelj N, Osredkar D, and Šuštar N
- Abstract
We present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily activities and social engagement. After the introduction of off-label treatment with acetazolamide periods without paralysis lengthened, our patient became more independent of the help of her parents and required a wheelchair less frequently, thus improving her social life. Based on our experience, we recommend a trial of acetazolamide in patients with ATS., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2021 by S. Karger AG, Basel.)
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- 2021
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50. Apgar Score and Risk of Cerebral Palsy in Preterm Infants: A Population-Based Cohort Study.
- Author
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Osredkar D, Verdenik I, Gergeli AT, Gersak K, and Lucovnik M
- Subjects
- Apgar Score, Child, Cohort Studies, Female, Humans, Infant, Infant, Newborn, Infant, Premature, Pregnancy, Cerebral Palsy diagnosis, Cerebral Palsy epidemiology, Cerebral Palsy etiology, Premature Birth
- Abstract
A low Apgar score is associated with increased risk of cerebral palsy (CP) in term infants, while such association remains controversial in preterm neonates. The objective of this study was to assess association between 5-minute Apgar scores and CP in different subcategories of preterm birth based on gestational age. The Slovenian National Perinatal Information System was used to identify singleton children without congenital malformations live-born at 22 to 37 weeks of gestation between 2002 and 2010. Data were linked to the Slovenian Registry of Cerebral Palsy in children born between 2002 and 2010. CP was diagnosed at a minimum of 5 years of age. Of 11,924 children included, 241 (2.0%) died before discharge and 153 (1.3%) were diagnosed with CP. Five-minute Apgar scores <7 were significantly associated with higher risk of death or CP (compared with scores ≥9) at all preterm gestations. CP alone was associated with Apgar scores <7 only at moderately or late preterm gestation (32-36 weeks) (adjusted relative risk [aRR]: 8.27; 95% confidence interval [CI]: 1.87-36.64 for scores 0-4 and aRR: 4.96; 95% CI 1.89-13.06 for scores 5-6). In conclusion, a low 5-minute Apgar score was associated with combined outcome of neonatal death or CP in all preterm births, while in surviving preterm infants at >32 weeks a low 5-minute Apgar score was associated with CP., Competing Interests: The authors report no conflicts of interest in this work., (Thieme. All rights reserved.)
- Published
- 2021
- Full Text
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