1. Machine learning-assisted diagnosis classification of primary immune dysregulation using IDDA2.1 phenotype profilingMalte Schwitzkowski, Sai Pavan Kumar Veeranki, Benedikt N. Seidel, Gerhard Kindle, Stephan Rusch, Diether Kramer, Markus G. Seidel, 2026, original scientific article Abstract: Background Immune dysregulation, including autoimmunity, autoinflammation, allergy, and malignancy predisposition, adds significant disease burden in primary immune disorders (PID) and inborn errors of immunity (IEIs). Objective We evaluated whether the 5-graded immune deficiency and dysregulation activity (IDDA2.1) score, encompassing 21 organ involvement and disease burden parameters, supports diagnosis across a wide spectrum of IEIs. Methods From April 2022 to November 2024, collaborators from 84 centers collected 1,043 IDDA score datasets from 825 patients across 89 IEIs (17 disorders with ≥10 patients each; range, 1-196 per IEI), including 177 scores from 141 treated patients. Supervised machine learning models ( k -nearest neighbors, support vector machine, logistic regression, random forest) classified patients into disease groups and ranked corresponding predictive features, while unsupervised uniform manifold approximation and projection (UMAP) visualized disease-specific clustering. Results Feature analysis reflected clinicians’ recognition of IEI patterns and confirmed internal IDDA score consistency. Phenotype profiles in treated patients remained informative, inversely reflecting anticipated treatment-dependent phenotype amelioration. UMAP effectively distinguished IEIs by IDDA2.1 profiles. Genetic disorder prediction achieved 73% overall accuracy, 70% for the correct monogenic IEI, and 93% within the top 3 predictions; classification reached 43% for IEI–International Union of Immunological Society categories and 59% for 12 “cardinal” IEIs (25 genes). Conclusions Random forest feature importance analysis can inform targeted clinical screening for key disease manifestations. The top 3 prediction approach demonstrates diagnostic potential, but improved accuracy will require larger, globally shared datasets. Small sample sizes for rare diseases highlight the necessity of broader collaboration to enhance AI-assisted clinical decision-making in the future.
Keywords: inborn error of immunity, IEI, primary immune regulatory disorder, PIRD, phenotype-driven disease classification, interoperable patient data, immune deficiency and dysregulation activity (IDDA) score, artificial intelligence, AI, unsupervised and supervised machine learning, ML, primary immune disorder, PID
Published in DiRROS: 08.04.2026; Views: 97; Downloads: 68
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2. Erratum : Better growth outcomes in GH-deficient children treated younger than 2 years of ageTilman R. Rohrer, Primož Kotnik, Bradley S Miller, Nicky Kelepouris, Anne Helene Olsen, Alberto Pietropoli, Michel Polak, Jo Blair, 2025, other scientific articles Keywords: growth factors, development/foetal nutrition, pituitary, paediatric endocrinology, growth hormone therapy, growth hormone deficiency, multiple pituitary hormone deficiency, clinical outcomes, real-world data, corrigendum
Published in DiRROS: 31.03.2026; Views: 152; Downloads: 69
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3. Better growth outcomes in GH-deficient children treated younger than 2 years of ageTilman R. Rohrer, Primož Kotnik, Bradley S Miller, Nicky Kelepouris, Anne Helene Olsen, Alberto Pietropoli, Michel Polak, Jo Blair, 2025, original scientific article Abstract: Background: Limited data are available on the growth response to growth hormone (GH) treatment in very young children with GH deficiency (GHD). In the present analysis, we compared clinical outcomes after GH treatment in children with GHD aged <2 and ≥2 years at the start of GH treatment. Methods: We analysed pooled data from two observational studies of paediatric patients who received Norditropin® treatment: NordiNet® IOS (NCT00960128) and the ANSWER Program (NCT01009905). Patients with GHD, who remained pre-pubertal after 1 year of treatment, were grouped by age at treatment start (<2 years; ≥2 years). The primary effectiveness outcome was change in height standard deviation score (SDS) after 1 and 10 years. We also investigated the frequency of non-serious adverse drug reactions (ADRs), serious ADRs and serious adverse events (SAEs). Results: In total, 507 and 7,486 children initiated treatment at <2 and ≥2 years of age, respectively. Height SDS (mean change (SD) from baseline) improved after 1 year of treatment in both groups and was greater in children initiating treatment at <2 years than in those initiating treatment at ≥2 years (1.4 (1.2) and 0.75 (0.5), respectively); these findings were sustained after 10 years of treatment (3.2 (1.7) and 2.2 (1.3), respectively). SAEs were more frequent in children initiating treatment at <2 years vs ≥ 2 years (3.3 vs 0.67%, respectively). Conclusions: Children aged <2 years at GH treatment initiation had better height outcomes, but more SAEs, after 1 and 10 years of GH treatment compared to children starting GH at age ≥2 years.
Keywords: growth factors, development/foetal nutrition, pituitary, paediatric endocrinology, growth hormone therapy, growth hormone deficiency, multiple pituitary hormone deficiency, clinical outcomes, real-world data
Published in DiRROS: 31.03.2026; Views: 146; Downloads: 83
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4. Data from: A comprehensive occurrence dataset for European Ostracoda inhabiting groundwater and groundwater-dependent ecosystemsNataša Mori, Živa Vehovar, Traian Brad, Gergely Balázs, Constanze Englisch, Cene Fišer, Santiago Gaviria, Sanja Gottstein, Christian Griebler, Marius Kenesz, Lee R. F. D. Knight, Pierre Marmonier, Florian Malard, Stefano Mammola, Alejandro Martinez Garcia, Maja Zagmajster, 2025, complete scientific database of research data Abstract: Motivation Groundwater ecosystems sustain a unique and globally important biodiversity but remain understudied due to sampling and exploration challenges, as well as a shortage of taxonomic experts. Groundwater ostracods, like other groundwater taxa, exhibit a high degree of endemism, rarity, and subterranean specialisation, positioning them as potentially vulnerable organisms. To better understand biodiversity patterns and the conservation needs of this highly diverse group, we assembled a team of experts to gather the most comprehensive information available about groundwater ostracods in Europe. We present a dataset comprising 2,065 occurrence records of 110 species, 11 undescribed species, and 5 subspecies of groundwater ostracods. This open dataset may support future research on the distribution, evolutionary pathways, and conservation needs of European groundwater ostracods, as well as inspire targeted sampling efforts in regions with currently limited data available. Main Types of Variables Contained Occurrence records of groundwater ostracods, with details about taxonomy, source of records, occurrence locality, habitat type, and species dependence on groundwater (obligate [stygobite] versus facultative groundwater-dwellers [stygophile]). Spatial Location and Grain Geographical Europe, spanning 32 countries. Occurrence records were assigned decimal degrees coordinates (EPSG:4326). Most occurrence records are at 100 m resolution. Time Period 1915–2024. Major Taxa and Level of Measurement Crustacea: Ostracoda. Most records have species or subspecies-level identification, while some are identified to genus or family levels. Software Format Comma-separated values file (.csv), with UTF-8 encoding and meta-data provided following the Darwin Core standard.
Keywords: alluvial aquifers, conservation, ecotypes, habitat types, hyporheic zone, karst, occurence data, Ostracods, springs
Published in DiRROS: 30.03.2026; Views: 163; Downloads: 125
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5. Attaining knowledge on environmental sustainability : knowledge and understanding of environmental sustainability revealed by TIMSS 2023 data in European education systemsBarbara Japelj Pavešić, Jure Novak, 2026, independent scientific component part or a chapter in a monograph Keywords: education, attaining knowledge, environmental sustainability, understanding of environmental sustainability, TIMSS, TIMSS 2023, European education systems, data
Published in DiRROS: 24.03.2026; Views: 143; Downloads: 93
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6. Transcriptome profiles of skeletal muscle in krškopolje and modern hybrid pigs : genotype comparison and effects of dietary protein reductionMilka Vrecl, Gregor Fazarinc, Malan Štrbenc, Klavdija Poklukar Žnidaršič, Marjeta Čandek-Potokar, Martin Škrlep, 2026, complete scientific database of research data Abstract: RNA sequencing was performed to compare two pig breeds (the Slovenian Krškopolje breed and a modern commercial breed) and to evaluate the effect of breed specific dietary protein reduction on the transcriptomic profiles of two skeletal muscles: longissimus thoracis et lumborum (LD) and semispinalis capitis (SSC). Differentially expressed genes (DEGs) were identified using the criteria |log2FC| > 1 and q value < 0.005. The effect of dietary protein reduction was minimal in both breeds and muscles, with only small numbers of DEGs detected. In Krškopolje pigs receiving medium protein (MP) or low protein (LP) diets, no DEGs were identified. In contrast, in the modern breed, 10 DEGs were detected when comparing the high protein (HP) with the MP diet group. A similar pattern was observed in SSC, where 19 DEGs were detected in Krškopolje pigs (MP vs. LP) and 16 DEGs in the modern breed (HP vs. LP). In comparison, when the LD and SSC transcriptome profiles of the modern breed were compared with those of the Krškopolje breed, the number of DEGs was substantially higher:149 in LD and 201 in SSC. The DEGs in LD of modern breed reflect a shift toward faster growing, more glycolytic muscle with distinct immune and neuromuscular regulation. Likewise, the SSC of modern breed shows stronger activation of growth related and metabolic signaling pathways.
Keywords: RNA sequences, pigs, adipose tissue, high throughput sequencing, RNA, transcriptome profiles, gene expression, locel breeds, hybrid breeds, data, data set
Published in DiRROS: 24.03.2026; Views: 188; Downloads: 34
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7. Metadata from: Wild and globally traded ornamental aquatic plants harbor diverse plant viruses, including notable crop pathogensLana Vogrinec, Katarina Bačnik, Martina Bačič, Nataša Mehle, Aimee R. Fowkes, Živa Lengar, Valerie Harju, Ian Adams, Adrian Fox, Denis Kutnjak, 2025, complete scientific database of research data Keywords: aquatic plants, macrophytes, viromes, high-throughput sequencing, data mining, virology
Published in DiRROS: 20.03.2026; Views: 189; Downloads: 124
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8. Adipose tissue transcriptome profiles of local Krškopolje pig and modern hybrid pigs receving reduced protein diets: : expression profiling by high throughput sequencingKlavdija Poklukar Žnidaršič, Martin Škrlep, Marjeta Čandek-Potokar, 2025, complete scientific database of research data Abstract: The main objective of this study was to investigate transcriptomic differences in subcutaneous adipose tissue between the local Krškopolje pig and modern hybrids, and to assess the effects of a reduced-protein diet in both genotypes. Comparative analysis between Krškopolje pigs and modern crossbreeds revealed 375 differentially expressed genes, with 189 upregulated and 186 downregulated in Krškopolje pigs. The upregulated genes were enriched in processes related to adipogenesis (SLC7A10, ADIRF, INHBB, SFRP2), extracellular matrix remodeling (COL6A5, COL4A5, COL2A1), calcium signaling (TRPV4, CAMK2A, CALML5), pro-inflammatory cytokines (IL1A, TNFSF9, CXCL8, PTGS2), and cholesterol metabolism (CYP1A1, CYP2A19, CES1). In contrast, the reduced-protein diet induced only minor transcriptional changes at the individual gene level in both Krškopolje pigs and modern crossbreeds.
Keywords: RNA sequences, pigs, adipose tissue, high throughput sequencing, RNA, transcriptome profiles, gene expression, locel breeds, hybrid breeds, data, data set
Published in DiRROS: 20.03.2026; Views: 224; Downloads: 40
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9. Effect of rearing systems and dietary protein levels on the skeletal muscle histomorphology and transcriptome profiles in indigenous Krškopolje Pig : expression profiling by high throughput sequencingMilka Vrecl, Martin Škrlep, Klavdija Poklukar Žnidaršič, Gregor Fazarinc, Malan Štrbenc, Marjeta Čandek-Potokar, 2026, complete scientific database of research data Abstract: RNA-sequencing was performed to compare the effects of production systems (conventional indoor, vs. outdoor) and diets (standard protein, HP, vs. low protein, LP) within each rearing system on the transcriptomic profiles of two skeletal muscles, longissimus thoracis et lumborum (LL) and semispinalis capitis (SSC). Differentially expressed genes (DEGs) were identified with |log2FC| > 1 and q-value < 0.005. The effect of rearing system (indoor vs. outdoor) resulted in 354 DEGs in LL and 334 DEGs in SSC. The effect of diet within individual rearing system was less pronounced. In LL, HP vs. LP resulted in 23 DEGs under indoor and none under outdoor rearing system. In SSC, HP vs. LP resulted in 28 DEGs under indoor and 30 DEGs under outdoor rearing system. Pathway enrichment analysis revealed 42 pathways significantly enriched for HP vs. LP in the outdoor rearing system (across both muscles); additionally, 11 pathways were altered specifically in SSC for HP vs. LP under indoor rearing system, and 27 pathways were altered specifically in LL for HP vs. LP under outdoor rearing system
Keywords: RNA sequences, pigs, adipose tissue, high throughput sequencing, RNA, transcriptome profiles, gene expression, locel breeds, hybrid breeds, data, data set
Published in DiRROS: 20.03.2026; Views: 224; Downloads: 43
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10. Interchangeability of patient pain, fatigue and global scores in patients with spondyloarthritis : a registry-based simulation studyStylianos Georgiadis, Daniela Di Giuseppe, Almut Scherer, Merete Lund Hetland, Gareth T. Jones, Bente Glintborg, Anne Gitte Loft, Johan Karlsson Wallman, Brigitte Michelsen, Eirik Klami Kristianslund, Žiga Rotar, Matija Tomšič, 2025, original scientific article Abstract: Background: To investigate a patient-level single imputation approach for patient reported outcomes (PROs) that express similar contents or associated PROs, where a PRO whose value is missing at a particular timepoint is substituted by another PRO whose value is available at the same timepoint. Methods: We performed a simulation study on registry-based spondyloarthritis data to explore the potential interchangeability between the patient pain (PPA) and fatigue (PFA) assessment scores and relevant Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) individual questions, and between PPA, PFA and patient global assessment (PGA). Performance was assessed per imputation method in terms of relative bias and coverage. Sample size, level of missingness and missing data pattern were included as parameters in the simulations. Results: All applied scenarios to interchange PPA with BASDAI question 2 (axial pain), BASDAI question 3 (peripheral joint pain/swelling) or their average failed. Interchangeability between PFA and BASDAI question 1 (fatigue/tiredness) was acceptable for partially (up to 50%) missing data. When interchanging patient assessment scores (PPA, PFA and PGA), we observed inconsistent results in terms of performance. The performance of the applied methods depended on the sample size and the level of missingness, but not heavily on the underlying missing data pattern. Conclusions: Interchanging PFA and the BASDAI fatigue question was justified for partially missing data, while interchangeability between PPA, PFA and PGA, and between PPA and the BASDAI pain questions was not advised. Our findings suggest that registering patient assessment scores and BASDAI questions is recommended.
Keywords: missing data, patient reported outcomes, registry data, single imputation, spondyloarthritis
Published in DiRROS: 10.03.2026; Views: 193; Downloads: 132
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