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2. Seasonality of infections caused by respiratory viruses in newborns and their relation to meteorological factorsGregor Nosan, 2024, izvirni znanstveni članek Povzetek: Objectives − Most viral respiratory tract infections (VRTI) are seasonal diseases and frequently severely affect public health by causing seasonal epidemics and pandemics, also in newborns. The objective of this study was to analyse the relation of meteorological factors to the occurrence of neonatal VRTI and to estimate their predictive role for VRTI seasonality. Patients and methods − The retrospective observational cohort study enrolled 228 newborns (56% male and 29% preterm) aged up to 44 postmenstrual weeks, hospitalized due to acute VRTI between January 2015 and December 2020 in the central Slovenian region. The meteorological data for the same geographical region and time period were assessed, and correlation, multiple regression and cut-off values were analysed. Results − A typical seasonal distribution of VRTI from December to March was observed and the large majority of cases were due to respiratory syncytial virus (RSV) infection. Low air temperature, high relative humidity, shorter daily solar radiation and increased cloud cover were associated with an increased risk of neonatal, either RSV or non-RSV VRTI. Conclusions − Meteorological factors, particularly air temperature and relative humidity, were associated with neonatal VRTI occurrence in the temperate climate of central Slovenia. The average daily air temperature below 4.9 and 3.8 °C could predict the onset of the VRTI and RSV VRTI season, respectively. These factors could be used as real-time predictive warning, especially for RSV season onset and the need to begin RSV immunoprophylaxis in vulnerable newborns.
Ključne besede: respiratory tract infections, newborn, respiratory syncytial virus
Objavljeno v DiRROS: 04.06.2026; Ogledov: 160; Prenosov: 94
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3. Neonatal acute omphalitis and congenital urachal anomaliesVesna Pirnovar, Mojca Glušič, Gregor Nosan, 2024, izvirni znanstveni članek Povzetek: Objectives − The objective of the study was to analyze clinical, laboratory and ultrasound imaging features of newborns with acute omphalitis (AO) and to define the most common congenital urachal anomalies that can present as neonatal AO and be diagnosed with umbilical ultrasound (US) imaging. Patients and methods − The study included newborns aged up to 44 post- conceptional weeks with AO and congenital urachal anomalies (persistent patent urachus, urachal cyst, diverticulum and sinus). Results − The study included 226 newborns, 132 (58.4%) male and 12 (5.3%) preterm. Their mean age was 9.7 days. The most frequent local signs of AO were umbilical discharge (151, 66.8%), periumbilical erythema (120, 53.1%) and periumbilical edema (64, 28.3%). The most frequently isolated bacteria, alone or in combination with other bacteria, was Staphylococcus aureus (120 newborns, 73.2%). Antibiotic treatment was needed in 148 (65.5%) newborns; most frequently intravenous flucloxacillin and gentamicin. US examination of the umbilical region was performed in 164 (72.6%) newborns with AO and congenital urachal anomalies were found in 96 (58.5%) newborns. The most frequent pathology was persistent patent urachus, found in 84 (87.5%) newborns. Conclusions − AO, one of the most common infections in the neonatal period, could be causally related to congenital urachal anomalies, especially persistent patent urachus, in more than half of cases. US imaging of the umbilical region represents the diagnostic modality of choice for detecting underlying urachal pathology.
Ključne besede: Urachus, newborn, umbilical cord
Objavljeno v DiRROS: 04.06.2026; Ogledov: 162; Prenosov: 90
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4. Umbilical cord care - impact of national recommendationsGregor Nosan, 2024, izvirni znanstveni članek Povzetek: Objectives −To analyze the current umbilical cord (UC) care practice in Slovenia and to evaluate the impact of national UC care recommendations by comparing the UC care practice before and after their introduction. Materials and Methods − A questionnaire covering the complete UC care was sent to medical nurses and midwifes involved in UC care in primary-level pediatric centers, health visiting and parent education services (outpatient group) and secondary and tertiary-level pediatric centers (inpatient care group) in Slovenia. Three different clinical conditions of the newborn’s umbilicus, i.e. healthy umbilicus (HU), umbilicus at risk (RU) and unhealthy umbilicus (UU) were used. The inpatient and outpatient groups and UC care in 2013 and 2021 were compared. Results − The sample included 396 respondents from all Slovenian regions. The odds for using UC care protocol in 2021 were 2.6 times higher compared to 2013 (P<0.001). The UC care of HU changed: the dry UC care became less frequent (P<0,001), the use of normal saline solution increased and the use of ethanol solution decreased (P<0.001). The use of ethanol solution for UU decreased (P<0.001) and the use of octenidine increased more than 200 times (P<0.001). Conclusions − The implementation of national recommendations significantly influenced the UC care in Slovenia. The current UC care practice is more unified and consistent with international recommendations. The adjusted UC care, depending on the clinical condition of the newborn’s umbilicus, puts additional value to these recommendations. Further refinements of the UC care protocol should emphasize the use of dry UC care.
Ključne besede: newborn, umbilical cord, umbilicus
Objavljeno v DiRROS: 04.06.2026; Ogledov: 148; Prenosov: 116
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5. Fetal treatment and long-term neonatal outcomes in severe maternal red cell alloimmunization : a single-centre experienceVita Andreja Mesarič, Irena Bricl, Erika Hrastar, Lilijana Kornhauser-Cerar, Jana Lozar Krivec, Mihael Rus, Derek P de Winter, Tanja Premru-Sršen, 2025, drugi znanstveni članki Povzetek: Objectives: Haemolytic disease of the fetus and newborn (HDFN) occurs due to maternal IgG alloantibodies that actively cross the placenta and bind to paternally derived fetal antigens on the erythrocytes. The aims of this study were to describe the Slovenian cohort of patients with severe HDFN, who required fetal treatment, to review the fetal treatment strategies, and to describe pregnancy and neurodevelopmental outcomes. Case series presentation: Data on patients who developed severe HDFN between 2006 and 2021 and were treated at our institution were collected retrospectively. Primary care pediatricians were contacted regarding neurodevelopmental outcomes of surviving infants. There were 19 pregnancies affected with severe HDFN. The most commonly implicated antigen was RhD. Seventeen children were liveborn. Sixteen fetuses were treated with intrauterine transfusion (IUT). Two children had developmental delay at the corrected age of 2 years. Conclusions: In this study, the Slovenian national cohort of severe cases of HDFN is described for the first time. Prevalence of RhD alloimmunization was higher in comparison to the literature. A combined treatment with therapeutic plasmapheresis, immunoglobulins and IUT was successful. Three quarters of newborns were born in the late preterm period. Overall survival rate and long-term neonatal adverse outcomes in our cohort were in line with the literature.
Ključne besede: haemolytic disease of the fetus and the newborn, intrauterine transfusion, neurodevelopmental outcome, severe maternal alloimmunization
Objavljeno v DiRROS: 22.04.2026; Ogledov: 174; Prenosov: 157
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6. Newborn screening for rare diseases : expanding the paradigm in the genomic eraUrh Grošelj, 2026, pregledni znanstveni članek Povzetek: Background: Newborn screening (NBS) has long been a cornerstone of public health, initially designed to detect a few congenital disorders such as phenylketonuria and congenital hypothyroidism. This early intervention prevents irreversible health consequences. With the advent of genomic technologies, NBS programs are expanding to include a broader range of rare diseases (RDs), offering new opportunities and challenges in clinical implementation, ethics, and health system readiness. Content: This mini-review traces the evolution of NBS from biochemical assays to next-generation sequencing (NGS) and whole-exome sequencing (WES). It highlights complexities in integrating RDs into NBS panels, including condition selection, test validation, confirmatory pipelines, and the need for robust follow-up. Ethical tensions between public health goals – focused on population benefit – and the personalized medicine paradigm are discussed, along with the importance of international harmonization to ensure equitable access. Summary: Expanding NBS to include RDs can transform early diagnosis, reduce diagnostic delays, and enable timely interventions that improve outcomes. Successful genomic NBS (gNBS) integration requires clear, evidence-based inclusion criteria, validated diagnostics, and sustainable follow-up systems. Outlook: Rapidly evolving genomic tools will reshape NBS, demanding agile policies, secure data infrastructures, and careful attention to consent, privacy, and equity. International collaboration and stakeholder engagement will be essential to ensure these technologies are implemented ethically and effectively, balancing public health priorities with individualized care.
Ključne besede: newborn screenin, NBS, genomic NBS, rare diseases, public health, personalized medicine, rare diseases
Objavljeno v DiRROS: 18.03.2026; Ogledov: 243; Prenosov: 213
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7. Current status of newborn screening in Southeastern and Central EuropeNika Požun, Daša Perko, Violeta Anastasovska, Tadej Battelino, Ana Drole Torkar, Matej Mlinarič, Žiga Iztok Remec, Barbka Repič-Lampret, Domen Trampuž, Mojca Žerjav-Tanšek, Urh Grošelj, 2026, izvirni znanstveni članek 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: 397; Prenosov: 258
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8. Screen first, vaccinate later : enhancing tuberculosis vaccination safety through newborn immunodeficiency screeningGregor Nosan, Andreja Cerkvenik Škafar, 2025, pregledni znanstveni članek Povzetek: Tuberculosis (TB) remains a global health challenge, with around 10 million new cases reported annually and multidrug-resistant strains complicating control efforts. Although incidence has declined in many high-income regions, neonatal populations remain vulnerable, underscoring the continued role of Bacillus Calmette–Guérin (BCG) vaccination. BCG vaccination provides strong protection against severe forms of TB in infancy, though its efficacy against pulmonary disease in adolescents and adults is modest. However, the BCG vaccine carries a risk of disseminated infection in immunocompromised newborns, emphasizing the importance of integrating immunodeficiency screening into vaccination strategies. Slovenia introduced universal newborn screening for inborn errors of immunity (IEI) in 2024 and, in 2025, revised its neonatal BCG vaccination protocol to incorporate screening results before vaccination. Under this approach, blood sampling occurs at ≥48 h, results are available by days 5–7, and BCG is administered between 7 and 14 days of life. This model balances timely TB protection with safety for at-risk infants. The Slovenian experience exemplifies a precision vaccination strategy that integrates real-time immunogenetic data with targeted BCG administration. This approach aligns with World Health Organization goals to modernize TB prevention while awaiting next-generation vaccines and may serve as a guide for other low-incidence countries.
Ključne besede: tuberculosis, newborn, vaccination, Bacillus Calmette-Guérin, screening, primary immunodeficiency diseases
Objavljeno v DiRROS: 17.12.2025; Ogledov: 589; Prenosov: 283
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9. Sudden death of a four-day-old newborn due to mitochondrial trifunctional protein/long-chain 3-hydroxyacyl-coa dehydrogenase deficiencies and a systematic literature review of early deaths of neonates with fatty acid oxidation disordersAna Drole Torkar, Ana Klinc, Žiga Iztok Remec, Branislava Ranković, Klara Bartolj, Sara Bertok, Sara Colja, Vanja Čuk, Maruša Debeljak, Eva Kozjek, Barbka Repič-Lampret, Matej Mlinarič, Tinka Mohar Hajnšek, Daša Perko, Katarina Štajer, Tine Tesovnik, Domen Trampuž, Blanka Ulaga, Jernej Kovač, Tadej Battelino, Mojca Žerjav-Tanšek, Urh Grošelj, 2025, pregledni znanstveni članek Povzetek: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies have been a part of the Slovenian newborn screening (NBS) program since 2018. We describe a case of early lethal presentation of MTPD/LCHADD in a term newborn. The girl was born after an uneventful pregnancy and delivery, and she was discharged home at the age of 3 days, appearing well. At the age of 4 days, she was found without signs of life. Resuscitation was not successful. The NBS test performed using tandem mass spectrometry (MS/MS) showed a positive screen for MTPD/LCHADD. Genetic analysis performed on a dried blood spot (DBS) sample identified two heterozygous variants in the HADHA gene: a nucleotide duplication introducing a premature termination codon (p.Arg205Ter) and a nucleotide substitution (p.Glu510Gln). Post-mortem studies showed massive macro-vesicular fat accumulation in the liver and, to a smaller extent, in the heart, consistent with MTPD/LCHADD. A neonatal acute cardiac presentation resulting in demise was suspected. We conducted a systematic literature review of early neonatal deaths within 14 days postpartum attributed to confirmed fatty acid oxidation disorders (FAODs), which are estimated to account for 5% of sudden infant deaths. We discuss the pitfalls of the NBS for MTPD/LCHADD.
Ključne besede: FAOD, LCHAD deficiency, LCHADD, MTP deficiency, MTPD, NBS, fatty acid oxidation disorder, newborn, newborn screening, sudden infant death
Objavljeno v DiRROS: 11.12.2025; Ogledov: 468; Prenosov: 323
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10. International survey on Phenylketonuria newborn screeningDomen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič-Lampret, Tadej Battelino, Urh Grošelj, 2025, izvirni znanstveni članek Povzetek: ewborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practices still vary widely across countries and centers. To evaluate the Phenylketonuria newborn screening practices internationally, we designed a survey with questions focusing on the laboratory aspect of the screening system. We analyzed 24 completed surveys from 23 countries. Most participants used the same sampling age range of 48–72 h; they used tandem mass spectrometry and commercial non-derivatized kits to measure phenylalanine (Phe), and had non-negative cut-off values (COV) set mostly at 120 µmol/L of Phe. Participants mostly used genetic analysis of blood and detailed amino acid analysis from blood plasma as their confirmatory methods and set the COV for the initiation of dietary therapy at 360 µmol/L of Phe. There were striking differences in practice as well. While most participants reported a 48–72 h range for age at sampling, that range was overall quite diverse Screening COV varied as well. Additional screening parameters, e.g., the phenylalanine/tyrosine ratio were used by some participants to determine the screening result. Some participants included testing for tetrahydrobiopterin deficiency, or galactosemia in their diagnostic process. Results together showed that there is room to select a best practice from the many practices applied. Such a best practice of PKU-NBS parameters and post-screening parameters could then serve as a generally applicable guideline.
Ključne besede: phenylketonuria, newborn, neonatal, screening, international, survey, laboratory, methods, cut-off
Objavljeno v DiRROS: 04.12.2025; Ogledov: 3797; Prenosov: 342
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