1. Gene therapy of rare diseases as a milestone in medicine : overview of the field and report on initial experiences in SloveniaUrh Grošelj, Marko Kavčič, Ana Drole Torkar, Jan Kafol, Duško Lainšček, Roman Jerala, Matjaž Sever, Samo Zver, Gregor Serša, Maja Čemažar, Primož Strojan, Aleš Grošelj, Mojca Žerjav-Tanšek, Špela Miroševič, Simona Ivančan, Tomaž Prelog, David Gosar, Jasna Oražem, Matej Mlinarič, Sara Bertok, Jernej Kovač, Jana Kodrič, Saba Battelino, Marko Pokorn, Alojz Ihan, Janez Jazbec, Tadej Battelino, Damjan Osredkar, 2025, pregledni znanstveni članek Povzetek: Gene therapy has transitioned from a long-awaited promise to a clinical reality, offering transformative treatments for rare congenital diseases and certain cancers, which have a significant impact on patients’ lives. Current approaches focus on gene replacement therapy, either in vivo or ex vivo, mostly utilizing viral vectors to deliver therapeutic genes into target cells. However, refining these techniques is essential to overcome challenges and complications associated with gene therapy to ensure long-term safety and efficacy. Slovenia has witnessed significant advancements in this field since 2018, marked by successful gene therapy trials and treatments for various rare diseases. Significant strides have been made in the field of gene therapy in Slovenia, treating patients with spinal muscular atrophy and rare metabolic disorders, including the pioneering work on CTNNB1 syndrome. Additionally, immune gene therapy, exemplified by IL-12 adjuvant therapy for cancer, has been a focus of research in Slovenia. Through patient-centred initiatives and international collaborations, researchers in Slovenia are advancing preclinical research and clinical trials, paving the way for accessible gene therapies. Establishing clinical infrastructure and genomic diagnostics for rare diseases is crucial for gene therapy implementation. Efforts in this regard in Slovenia, including the establishment of a Centre for Rare Diseases, Centre for the Technologies of Gene and Cell Therapy, and rapid genomic diagnostics, demonstrate a commitment to comprehensive patient care. Despite the promises of gene therapy, challenges remain, including cost, distribution, efficacy, and long-term safety. Collaborative efforts are essential to address these challenges and ensure equitable access to innovative therapies for patients with rare diseases.
Ključne besede: gene therapy, rare genetic diseases, Slovenia, CAR-T cells, cancer, immune gene therapy
Objavljeno v DiRROS: 04.12.2025; Ogledov: 160; Prenosov: 124
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2. Let's see if you can hear : the effect of stimulus type and intensity to pupil diameter response in infants and adultsAmanda Saksida, Sašo Živanović, Saba Battelino, Eva Orzan, 2025, izvirni znanstveni članek Povzetek: Objectives: Pupil dilation can serve as a measure of auditory attention. It has been proposed as an objective measure for adjusting hearing aid configurations, and as a measure of hearing threshold in the pediatric population. Here we explore (1) whether the pupillary dilation response (PDR) to audible sounds can be reliably measured in normally hearing infants within their average attention span, and in normally hearing adults, (2) how accurate within-participant models are in classifying PDR based on the stimulus type at various intensity levels, (3) whether the amount of analyzed data affects the model reliability, and (4) whether we can observe systematic differences in the PDR between speech and nonspeech sounds, and between the discrimination and detection paradigms. Design: In experiment 1, we measured the PDR to target warble tones at 500 to 4000 Hz compared with a standard tone (250 Hz) using an oddball discrimination test. A group of normally hearing infants was tested in experiment 1a (n = 36, mean [ME] = 21 months), and a group of young adults in experiment 1b (n = 12, ME = 29 years). The test was divided into five intensity blocks (30 to 70 dB SPL). In experiment 2a (n = 11, ME = 24 years), the task from experiment 1 was transformed into a detection task by removing the standard warble tone, and in experiment 2b (n = 12, ME = 29 years), participants listened to linguistic (Ling-6) sounds instead of tones. Results: In all experiments, the increased PDR was significantly associated with target sound stimuli on a group level. Although we found no overall effect of intensity on the response amplitude, the results were most clearly visible at the highest tested intensity level (70 dB SPL). The nonlinear classification models, run for each participant separately, yielded above-chance classification accuracy (sensitivity, specificity, and positive predictive value above 0.5) in 76% of infants and in 75% of adults. Accuracy further improved when only the first six trials at each intensity level were analyzed. However, accuracy was similar when pupil data were randomly attributed to the target or standard categories, indicating over-sensitivity of the proposed algorithms to the regularities in the PDR at the individual level. No differences in the classification accuracy were found between infants and adults at the group level, nor between the discrimination and detection paradigms (experiment 2a versus 1b), whereas the results in experiment 2b (speech stimuli) outperformed those in experiment 1b (tone stimuli). Conclusions: The study confirms that PDR is elicited in both infants and adults across different stimulus types and task paradigms and may thus serve as an indicator of auditory attention. However, for the estimation of the hearing (or comfortable listening) threshold at the individual level, the most efficient and time-effective protocol with the most appropriate type and number of stimuli and a reliable signal to noise ratio is yet to be defined. Future research should explore the application of pupillometry in diverse populations to validate its effectiveness as a supplementary or confirmatory measure within the standard audiological evaluation procedures.
Ključne besede: adults, audiometry, auditory attention, infants, pupillometry
Objavljeno v DiRROS: 31.03.2025; Ogledov: 757; Prenosov: 315
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3. The importance of flaps in reconstruction of locoregionally advanced lateral skull-base cancer defects : a tertiary otorhinolaryngology referral centre experienceDomen Vozel, Peter Pukl, Aleš Grošelj, Aleksandar Aničin, Primož Strojan, Saba Battelino, 2021, izvirni znanstveni članek Povzetek: Background. The aim of the study was to identify the value of extensive resection and reconstruction with flaps in the treatment of locoregionally advanced lateral skull-base cancer.Patients and methods. The retrospective case review of patients with lateral skull-base cancer treated surgically with curative intent between 2011 and 2019 at a tertiary otorhinolaryngology referral centre was made. Results. Twelve patients with locoregionally advanced cancer were analysed. Lateral temporal bone resection was performed in nine (75.0%), partial parotidectomy in six (50.0%), total parotidectomy in one (8.3%), ipsilateral selective neck dissection in eight (66.7%) and ipsilateral modified radical neck dissection in one patient (8.3%). The defect was reconstructed with anterolateral thigh free flap, radial forearm free flap or pectoralis major myocutaneous flap in two patients (17.0%) each. Mean overall survival was 3.1 years (SD = 2.5) and cancer-free survival rate 100%. At the data collection cut-off, 83% of analysed patients and 100% of patients with flap reconstruction were alive. Conclusions. Favourable local control in lateral skull-base cancer, which mainly involves temporal bone is achieved with an extensive locoregional resection followed by free or regional flap reconstruction. Universal cancer registry should be considered in centres treating this rare disease to alleviate analysis and multicentric research.
Ključne besede: temporal bone, microsurgery, parotid region, free tissue flaps, neoplasm staging, ear
Objavljeno v DiRROS: 22.07.2024; Ogledov: 949; Prenosov: 425
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4. Autologous platelet and extracellular vesicle-rich plasma as therapeutic fluid : a reviewKaja Troha, Domen Vozel, Matevž Arko, Apolonija Bedina Zavec, Drago Dolinar, Matej Hočevar, Zala Jan, Matic Kisovec, Boštjan Kocjančič, Ljubiša Pađen, Manca Pajnič, Samo Penič, Anna Romolo, Neža Repar, Vesna Spasovski, Nejc Steiner, Vid Šuštar, Aleš Iglič, Damjana Drobne, Ksenija Kogej, Saba Battelino, Veronika Kralj-Iglič, 2023, pregledni znanstveni članek Ključne besede: platelet-rich plasma, platelets, centrifugation, extracellular vesicles, small cellular particles, wound healing, regeneration, fresh-frozen plasma, intercellular signaling peptides and proteins
Objavljeno v DiRROS: 26.01.2024; Ogledov: 1387; Prenosov: 846
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5. Priporočila za obravnavo bolnikov z rakom glave in vratu v SlovenijiPrimož Strojan, Aleksandar Aničin, Jelena Azarija, Saba Battelino, Bogdan Čizmarevič, Vojislav Didanovič, Tadej Dovšak, Marta Dremelj, Aleš Fidler, Matic Glavan, Cvetka Grašič-Kuhar, Aleš Grošelj, Andrej Kansky, Katarina Barbara Karner, Marko Kokalj, Matic Koren, Jana Krapež, Hojka Kuralt, Boštjan Lanišnik, Primož Levart, Jure Orel, Jošt Pavčič, Gaber Plavc, Luka Prodnik, Peter Pukl, Robert Šifrer, Matija Švagan, Jure Urbančič, Branko Zakotnik, Nina Zidar, Barbara Žumer, 2021, strokovni članek Povzetek: Priporočila za obravnavo rakov glave in vratu (RGV) v Sloveniji sledijo priporočilom in usmeritvam, povzetim v publikaciji neprofitne mreže 30 vodilnih severnoameriških inštitucij za obravnavo raka, National Comprehensive Cancer Network,1 in hkrati upoštevajo obstoječe zmožnosti slovenskega zdravstvenega sistema. Smernice predstavljajo poenoteno mnenje vseh štirih najpomembnejših deležnikov na področju obravnave rakov glave in vratu v državi: Klinike za otorinolaringologijo in cervikofacialno kirurgijo, Kliničnega oddelka za maksilofacialno in oralno kirurgijo ter Stomatološke klinike UKC Ljubljana, Klinike za otorinolaringologijo, cervikalno in maksilofacialno kirurgijo UKC Maribor ter Onkološkega inštituta Ljubljana
Ključne besede: rak glave in vratu, zdravljenje, onkolško zdravljenje
Objavljeno v DiRROS: 11.06.2021; Ogledov: 3506; Prenosov: 756
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6. Priporočila za obravnavo rakov glave in vratu v SlovenijiAleksandar Aničin, Saba Battelino, Bogdan Čizmarevič, Vojislav Didanovič, Tadej Dovšak, Marta Dremelj, Aleš Fidler, Matic Glavan, Cvetka Grašič-Kuhar, Aleš Grošelj, Andrej Kansky, Katarina Barbara Karner, Marko Kokalj, Matic Koren, Jana Krapež, Hojka Kuralt, Boštjan Lanišnik, Primož Levart, Janez Orel, Janez Pavčič, Gaber Plavc, Luka Prodnik, Peter Pukl, Robert Šifrer, Matija Švagan, Jure Urbančič, Branko Zakotnik, Nina Zidar, Barbara Žumer, 2020, slovar, enciklopedija, leksikon, priročnik, atlas, zemljevid Ključne besede: rak glave in vratu, priporočila, zdravljenje
Objavljeno v DiRROS: 12.03.2021; Ogledov: 2596; Prenosov: 791
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7. Predlog priporočil za celostno rehabilitacijo otrok z možganskim tumorjemLidija Kitanovski, Katja Groleger Sršen, Nataša Kos, Barbara Faganel Kotnik, Primož Kotnik, Ivana Kreft, Lorna Zadravec-Zaletel, Saba Battelino, 2019, objavljeni strokovni prispevek na konferenci (vabljeno predavanje) Ključne besede: pediatrija, onkologija, možganski tumor, otroška onkologija
Objavljeno v DiRROS: 18.09.2019; Ogledov: 3812; Prenosov: 936
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