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Abstract: Objective: High myopia is a significant risk factor for irreversible vision loss and can occur in isolation or as a component of various syndromes. However, the genetic basis of early-onset high myopia remains poorly understood. We aimed to identify the causative genetic variants for high myopia in a cohort of Slovenian children. Methods: The study included children referred to a tertiary paediatric ophthalmology centre at the University Eye Clinic in Ljubljana between 2010 and 2022. The participants met the following inclusion criteria: age ≤ 15 years and high myopia ≤-5.0 D before the age of 10 years. Genetic analysis included exome sequencing and/or molecular karyotyping. Participants were categorized based on clinical presentation: high myopia with systemic involvement, high myopia with ocular involvement, and isolated high myopia. Results: Genetic analysis of 36 probands revealed a genetic cause of high myopia in 22 (61.1%) children. Among those with systemic involvement (50.0%), genetic causes were identified in 13 out of 18 children, with Stickler's and Pitt-Hopkins being the most common syndromes. Among cases of high myopia with ocular involvement (38.9%), a genetic cause was found in 8 out of 14 probands, including (likely) pathogenic variants in genes related to retinal dystrophies (CACNA1F, RPGR, RP2, NDP). The non-syndromic ARR3- associated high myopia was identified in the isolated high myopia group. Conclusions: A genetic cause of high myopia was identified in 61.1% of children tested, demonstrating the value of genetic testing in this population for diagnosis and proactive counseling.
Keywords: high myopia, child, genetics
Published in DiRROS: 01.07.2026; Views: 75; Downloads: 57
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Abstract: Introduction: The aim of this 11-year retrospective multicentric study is to evaluate the policy of 14 maxillofacial surgery divisions in terms of titanium plate removal from paediatric patients who had undergone open reduction and internal fixation (ORIF) to treat maxillofacial fractures. Material and methods: Patients ≤ 16 years undergoing surgical treatment for fractures of middle and lower third of the face between January 2011 and December 2022, with a minimum follow-up of 6 months, were included. Age (group A: ≤ 6 years, B: 7−12 years, C: 13−16 years), sex, fracture location and type, surgical approach, number, and location of positioned and removed plates, timing and indications for removal were recorded. Results: 191/383 (50 %) patients (median age, 10 years; M:F ratio 2.1:1) underwent removal of 319/708 (45 %) plates. Maxillary dentoalveolar process (91 %), angle/ramus (63 %) and mandibular body (61 %) had a significantly higher removal rate than other fracture sites (p < 0.001). A significant decreasing trend in removal with increasing age was observed, from 83 % in Group A to 24 % in Group C (p < 0.001). On the total of positioned plates, 11 % were removed for symptomatic reasons (5 % infections, 6 % discomfort/pain) and 34 % for other reasons (28 % scheduled removal). Discussion: This multicentric study showed that plate removal was not performed routinely in the paediatric population. The incidence and causes of symptomatic plates removal were consistent with the literature, while the plate removal rate from asymptomatic patients was lower. A correlation was found between increasing age and a reduction in the frequency of plate removal procedures.
Keywords: child, internal fixation, jaw fractures, plate removal, treatment outcome
Published in DiRROS: 22.05.2026; Views: 190; Downloads: 154
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Abstract: Introduction: Trapdoor fractures of the orbital floor occur almost exclusively in the paediatric population. Despite being widely discussed in the literature, their management remains controversial. The objective of this retrospective study was to analyse the surgical experiences on paediatric trapdoor fractures in the maxillofacial centres participating in the WORMAT project. Materials and methods: 14 centres collected data for patients aged ≤16 years operated between January 2011 and December 2022. The demographic, cause and type of fracture, timing from injury to surgery, surgical approach, type of floor repair and outcomes were recorded. Diplopia, surgical wound infection, hardware loosening and dysesthesia in the infraorbital nerve area were recorded at follow-up. Results: 43 patients were included: 25 children (0−12 y) and 18 adolescents (13−16 y) (mean age, 11.1 years). Surgical treatment was performed within 24 h in 51 % of the patients, within 24−72 h in 33 %, and beyond 72 h in the remaining. The orbital floor was repaired with a resorbable implant/membrane in 63 % of the patients, open reduction without an implant in 30 %, a titanium mesh implant in 3 adolescent patients. At follow-up (mean 16.3 months), 14 patients had residual diplopia in the upper fields, only two of these resolved within 6 months. Discussion: A tendency toward an increased incidence of postoperative diplopia with longer intervals between trauma and surgery was observed. This study showed different choices regarding the material placed on the floor, with a preference for open reduction without implants in children, compared to the use of resorbable implants or membranes in adolescents.
Keywords: adolescent, child, diplopia, internal fracture fixation, orbit, outcome
Published in DiRROS: 22.05.2026; Views: 195; Downloads: 154
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Abstract: Background: Topical corticosteroid phobia (CSP) is a significant barrier to the effective treatment of atopic dermatitis (AD). This is the first study to evaluate the CSP prevalence among parents of children with AD in Slovenia and to identify contributing factors. Methods: We conducted a cross-sectional study between March 2021 and December 2023. Parents of children with dermatologist-confirmed AD, aged 3 months to 18 years, completed the validated TOPICOP questionnaire, supplemental questions and the (F)DLQI questionnaire. The SCORAD index was used to assess the severity of their children's AD disease. Statistical analyses included the Shapiro-Wilk test, two-tailed independent t-test, ANOVA, followed by Tukey post hoc testing and the Pearson correlation coefficient. Results: Among 117 parents (81.2% mothers), the mean TOPICOP score was 48.2% (SD 15.1). Fear was the highest-scoring TOPICOP domain (53.7%). CSP was significantly higher in parents of children with more severe AD based on SCORAD (p = 0.033) and in families with higher (F)DLQI scores (r = 0.311, p = 0.002). Notably, our results suggest that parents of children in single-parent households had significantly higher CSP (p = 0.035), a novel finding that warrants cautious interpretation due to the small subgroup size. Information obtained online about the potential dangers of topical corticosteroids (TCS) correlated with higher CSP (p < 0.001). Conclusion: CSP is prevalent among Slovenian parents of children with AD and is particularly pronounced in cases of more severe disease and single-parent households, a novel and previously undescribed finding. Given that CSP is often influenced by nonmedical information sources, structured education and support by all healthcare providers is essential. Keywords: atopic dermatitis; child; corticosteroids; cross-sectional studies; parents; quality of life; severity of illness index; topical.
Keywords: atopic dermatitis, severity of illness index, child, parents, quality of life
Published in DiRROS: 23.04.2026; Views: 246; Downloads: 263
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Abstract: Background: There is a lack of information on the current healthcare systems for children with kidney diseases across Europe. The aim of this study was to explore the different national approaches to the organization and delivery of pediatric nephrology services within Europe. Methods: In 2020, the European society for Paediatric Nephrology (ESPN) conducted a cross-sectional survey to identify the existing pediatric nephrology healthcare systems in 48 European countries covering a population of more than 200 million children. Results: The reported three most important priorities in the care of children with kidney diseases were better training of staff, more incentives for physicians to reduce staff shortages, and more hospital beds. Positive achievements in the field of pediatric nephrology included the establishment of new specialized pediatric nephrology centers, facilities for pediatric dialysis and transplant units in 18, 16, and 12 countries, respectively. The most common problems included no access to any type of dialysis (12), inadequate transplant programs for all ages of children (12), lack of well-trained physicians and dialysis nurses (12), inadequate reimbursement of hospitals for expensive therapies (10), and lack of multidisciplinary care by psychologists, dieticians, physiotherapists, social workers and vocational counsellors (6). Twenty-five of 48 countries (52%) expected to have a shortage of pediatric nephrologists in the year 2025, 63% of clinical nurses and 56% of dialysis nurses. All three groups of health care professionals were expected to be lacking in 38% of countries. Prenatal assessment and postnatal management of renal malformations by a multidisciplinary team including obstetricians, geneticists, pediatricians, and pediatric surgeons was available in one third of countries. Conclusions: Our study shows that there are still very marked differences in pediatric health care systems across the European countries and highlights the need need for appropriate services for children with kidney disease in all European countries.
Keywords: European child healthcare services, nephrology, achievements, needs, workforce, prevention, rehabilitation
Published in DiRROS: 10.03.2026; Views: 378; Downloads: 272
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