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Povzetek: Newborn screening (NBS) is a well-established public health program that enables early detection and treatment of rare disorders in newborns, preventing severe complications or death. Despite its recognized importance, the scope and implementation of NBS programs vary across Southeastern (SE) and Central Europe. This study aimed to evaluate the current status of NBS in 16 countries of SE and Central Europe and assess progress since the previous survey in 2021. A structured questionnaire was distributed to national experts between April and December 2025, collecting data on program organization, coverage, diseases included, laboratory methods, confirmatory testing, consent practices, and future expansion plans. All countries reported universal screening for congenital hypothyroidism, except Kosovo, where a national NBS is in the process of being established. Expanded NBS using tandem mass spectrometry was available in Austria, Bulgaria, Croatia, Cyprus, Greece, Hungary, North Macedonia, Romania, and Slovenia. Spinal muscular atrophy screening became universal in Austria, Croatia, Hungary, Serbia, and Slovenia. Most countries reported plans for further expansion, with congenital adrenal hyperplasia, severe combined immunodeficiency, spinal muscular atrophy, and cystic fibrosis being the most frequently targeted conditions. Although notable infrastructural progress has been achieved, financial constraints, lack of staff, and organizational barriers remain key challenges. The study’s assessment of program effectiveness was further limited by the absence of region-wide systems for capturing end-to-end performance indicators, such as the age of the infant at treatment initiation or missed cases. Regional collaboration and adoption of best practices are therefore vital to ensure equitable access and continuous advancement of NBS programs.
Ključne besede: newborn screening, NBS, Southeastern Europe, Central Europe, neonatal screening, expanded NBS program
Objavljeno v DiRROS: 06.03.2026; Ogledov: 98; Prenosov: 43
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Ključne besede: iatrogenic cerebral amyloid angiopathy, iCAA, medicolegal, donor-recipient screening
Objavljeno v DiRROS: 23.02.2026; Ogledov: 210; Prenosov: 71
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Povzetek: Background: The scalability of a blood-based sarcopenia assessment has generated interest in circulating markers that may enhance management strategies. Data regarding the relevance of brain derived neurotrophic factor (BDNF), a regulator of neuroplasticity, to sarcopenia in community-dwelling adults are scarce. We examined the association between plasma BDNF concentrations, sarcopenia and individual sarcopenia signatures in a well-characterised adult cohort. Methods: Participants included 246 menandwomenaged50–82years(meanage=63.6years;52%female).Musclestrength and skeletal muscle index (SMI) were assessed by hand dynamometry and dual-energy X-ray absorptiometry. Plasma BDNF concentrations were determined, in duplicate, with commercially available enzyme-linked immunosorbent assays. Sarcopenia and individual signatures of sarcopenia (i.e. low grip strength or low SMI) were diagnosed according to the EWGSOP2 algorithm. Results: Plasma BDNF concentrations were 47.6% higher in participants with sarcopenia than controls (P =0.005), and demonstrated acceptable diagnostic accuracy (areas under the curves=0.702, 95%CI=0.597–0.806, P =0.002, optimal cut-off >1645 pg/ml). Plasma BDNF concentration>1645 pg/ml was associated with 2.83 greater odds for sarcopenia (95%CI=1.13–7.11, P =0.027), than ≤1645 pg/ml, whilst a BDNF Z-score≥2 was associated with 5.14 higher odds for sarcopenia (95%CI=1.16–22.82, P =0.031), than a Z-score<1. Covariates included sex, age, body mass index, habitual physical activity, smoking status, alcohol consumption, comorbidity and educational attainment. Conclusion: Circulating BDNF concentrations are elevated in community-dwelling men and women with sarcopenia, which may reflect increased neuromuscular remodelling in these people. Our findings complement existing data, supporting the presence of an intricate relationship between neural integrity and skeletal muscle health. Future studies are needed to establish the mechanistic pathways that may underpin the associations.
Ključne besede: biomarkers, brain derived neurotrophic factor (BDNF), older people, sarcopenia, screening, skeletal muscle health
Objavljeno v DiRROS: 14.01.2026; Ogledov: 201; Prenosov: 126
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Povzetek: Objectives: First, to report the incidence of non-cephalic presentation at a routine 36-week ultrasound scan, the uptake and success of external cephalic version (ECV) and the incidence of spontaneous rotation from non-cephalic to cephalic presentation. Second, to determine the maternal and pregnancy characteristics that provide a significant contribution to the prediction of non-cephalic presentation at the 36-week scan, successful ECV from non-cephalic to cephalic presentation and spontaneous rotation from non-cephalic to cephalic presentation. Methods: This was a retrospective analysis of prospectively collected data from 107 875 women with a singleton pregnancy who had undergone a routine ultrasound scan at 35 + 0 to 36 + 6 weeks' gestation. Patients with breech or transverse/oblique presentation were divided into two groups: those scheduled for elective Cesarean section for a fetal or maternal indication other than abnormal presentation, and those that would potentially require ECV. The latter group was reassessed after 1-2 weeks and, if the abnormal presentation persisted, the parents were offered ECV or elective Cesarean section at 38-40 weeks' gestation. Multivariable logistic regression analysis was carried out to determine which maternal and pregnancy characteristics provided a significant contribution in the prediction of non-cephalic presentation at the 36-week scan, successful ECV from non-cephalic to cephalic presentation and spontaneous rotation from non-cephalic to cephalic presentation. Results: At the 36-week scan, fetal presentation was cephalic in 101 664 (94.2%) pregnancies and either breech, transverse or oblique in 6211 (5.8%). In 0.3% of cases with cephalic presentation at the 36-week scan, there was subsequent spontaneous rotation to non-cephalic presentation, and in half of these, the diagnosis was made during labor or at birth. ECV was attempted in 1584/6211 (25.5%) pregnancies with non-cephalic presentation at the 36-week scan and was successful in only 44.1% of cases. In the remaining 74.5% of cases, ECV was not attempted because of any of the following reasons: ECV was declined; Cesarean section was planned for a reason other than abnormal presentation; ECV was planned for the subsequent 1-2 weeks but, in the meantime, there was spontaneous rotation to cephalic presentation; or there was spontaneous onset of labor or rupture of membranes before planned ECV. In 5513/6211 (88.8%) pregnancies with non-cephalic presentation at the 36-week scan, ECV was not attempted or was unsuccessful, and in 37.7% of these, there was subsequent spontaneous rotation to cephalic presentation. Among the 6211 pregnancies with non-cephalic presentation at the 36-week scan, the presentation at birth was cephalic in 43.8%; in 74.8%, this was due to spontaneous rotation, and in 25.2%, it was due to successful ECV. Multivariable analysis demonstrated that the likelihood of non-cephalic presentation at the 36-week scan, that of successful ECV and that of spontaneous rotation from non-cephalic to cephalic presentation was affected by several maternal and pregnancy characteristics, but the predictive performance for these events was poor, with the area under the receiver-operating-characteristics curve ranging from 0.608 to 0.717 and the detection rate at a 10% false-positive rate ranging from 19.0% to 33.7%. Conclusions: Routine ultrasound examination at 35 + 0 to 36 + 6 weeks' gestation could improve pregnancy outcome by substantially reducing the risk of unexpected abnormal presentation in labor. However, an additional ultrasound scan for fetal presentation should be considered in all women when they present in labor.
Ključne besede: breech presentation, cephalic presentation, external cephalic version, prenatal diagnosis, pyramid of pregnancy care, third-trimester screening, ultrasound examination
Objavljeno v DiRROS: 07.01.2026; Ogledov: 344; Prenosov: 125
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Povzetek: Background and aims: Cascade familial hypercholesterolemia (FH) screening of parents could reduce the burden cardiovascular disease (CVD) in relatives of index cases by enabling timely diagnosis of FH. Here, we present the positive outcomes of the pilot child-parent cascade screening program in Slovenia. Methods: One hundred and thirty-eight parents from 123 families of an index child with genetically confirmed FH were randomly included in the pilot child-parent cascade screening program. Index children were identified through the universal FH screening program in preschool children. Genetic testing using Sanger sequencing was performed for cascade screening to detect (likely) pathogenic variants, previously confirmed in the index child. Results: The success rate of confirming a (likely) pathogenic variant was 77.2 % when the first parent, preferably with higher total cholesterol levels, was tested, and reached 99.1 % when the variant was identified in the first tested parent or when both parents were tested. In the minority of cases (13.8 %), parents had had a clinical diagnosis of FH prior to their child and these had somewhat higher prevalence of CVD compared to parents that were diagnosed after their index child through the pilot program (12.5 % vs. 4.3 %; p = 0.382). Conclusions: In conclusion, the presented pilot child–parent cascade screening program is feasible in clinical practice and shows a high success rate in identifying parents with FH. Parents diagnosed through the program appeared to have a lower prevalence of CVD. However, larger cohorts are needed to confirm these findings.
Ključne besede: child-parent screening, cascade screening, familial hypercholesterolemia, cardiovascular disease, Slovenia
Objavljeno v DiRROS: 16.12.2025; Ogledov: 286; Prenosov: 153
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