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1.
Mevalonate kinase deficiency : an updated clinical overview and revision of the SHARE recommendations
Lilla Lengvári, Kata Takács, Anna Lengyel, Annamária Pálinkás, Carine Wouters, Isabelle Kone-Paut, Jasmin B Kuemmerle-Deschner, Jerold Jeyaratnam, Jordi Anton, Helen Jane Lachmann, Nataša Toplak, 2024, review article

Abstract: Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the MVK gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines. By describing molecular mechanisms, diagnostic dilemmas, and emerging therapies, this article should serve as a resource for clinicians and researchers, promoting a deeper understanding of MKD and guiding optimal patient care.
Keywords: mevalonate kinase deficiency, diagnosis, genetics, treatment, guidelines
Published in DiRROS: 26.02.2026; Views: 86; Downloads: 38
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2.
Influences on and prevention of self-harm behavior among the most at-risk adolescents : study protocol for the SH-MARA prospective longitudinal cohort study
Lana Sernec Podnar, Petra Tomažič, Anja Tomašević Kramer, Barbara Plemeniti Tololeski, Gorjan Tasevski, Žiga Rosenstein, Simona Klemenčič, Tadej Battelino, Blaž Vrhovšek, Tadej Lahovnik, Jernej Kovač, Carla Sharp, Barbara Jenko Bizjan, Sašo Karakatič, Maja Drobnič Radobuljac, 2025, original scientific article

Abstract: Background Both suicidal and non-suicidal self-injuring behaviors (NSSI) are common during adolescence In Slovenia, adolescent suicide rates are high, making suicide the leading cause of death in the year 2022 in this age group. These behaviors are influenced by a complex interplay of environmental, psychological, and genetic factors. Previous research has identified risk and protective factors mainly for suicidal behavior in adults, a notable gap in understanding these factors in adolescents remains, especially for NSSI. Notably there is an important lack of effective clinical tools or psychometric assessment methods to reliably assess the risk for either suicidal or NSSI behaviors in acutely hospitalized adolescents. Methods and analysis The proposed study uses a mixed-method observational design consisting of a prospective longitudinal cohort component involving adolescents hospitalized for high risk of DSH, and a cross-sectional comparison with a control group of healthy adolescents recruited from primary care settings. It is aimed at identifying genetic, psychosocial, and clinical factors associated with suicidal behaviors and NSSI in adolescents. The study group is recruited from adolescents aged 12–19, admitted to the Intensive Child and Adolescent Psychiatry Unit in Ljubljana due to severe self-harm risk. Exclusion criteria include involuntary treatment, acute psychotic disorders, intellectual disability, severe physical or central nervous system illnesses and acute intoxication. The control group comprises adolescents of comparable age, recruited through regular scheduled health check-ups in Slovenia. Exclusion criteria include suicidality, severe mental disorder, a history of self-harm behavior in a first-degree relative, intellectual disability, severe physical or central nervous system illnesses and acute intoxication. Enrollment runs from February 1, 2023, to December 31, 2025. Participation is voluntary, requiring parental or guardian consent for those 14 or younger
Keywords: adolescents, deliberate self-harm, non-suicidal self-injury, suicidal behavior, intensive psychiatry, personality disorder, traumatic experience, genetics, epigenetics
Published in DiRROS: 24.02.2026; Views: 176; Downloads: 68
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3.
Medical geneticists’ interpretations of genetic disorders in Roma communities in post-socialist Hungary
Barna Szamosi, 2025, original scientific article

Abstract: The article investigates the utilization of ethnic classification by human geneticists in Hungary, with a particular focus on the Roma minority. Drawing on qualitative expert-interviews, it analyzes how historically situated social imaginaries inform the production of genetic knowledge. The study explores how human genetics constructs heritable disorders as ethnic diseases, exposing the epistemological and ethical tensions inherent in translating sociocultural difference into biological terms.
Keywords: population genetics, race/ethnicity, Roma, public health, East Central Europe
Published in DiRROS: 19.01.2026; Views: 242; Downloads: 114
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4.
Prolonged hospitalization signature and early antibiotic effects on the nasopharyngeal resistome in preterm infants
Achal Dhariwal, Polona Rajar, Gabriela Salvadori, Heidi Aarø Åmdal, Dag Berild, Ola Didrik Saugstad, Drude Fugelseth, Gorm Greisen, 2024, original scientific article

Abstract: Respiratory pathogens, commonly colonizing nasopharynx, are among the leading causes of death due to antimicrobial resistance. Yet, antibiotic resistance determinants within nasopharyngeal microbial communities remain poorly understood. In this prospective cohort study, we investigate the nasopharynx resistome development in preterm infants, assess early antibiotic impact on its trajectory, and explore its association with clinical covariates using shotgun metagenomics. Our findings reveal widespread nasopharyngeal carriage of antibiotic resistance genes (ARGs) with resistomes undergoing transient changes, including increased ARG diversity, abundance, and composition alterations due to early antibiotic exposure. ARGs associated with the critical nosocomial pathogen Serratia marcescens persist up to 8–10 months of age, representing a long-lasting hospitalization signature. The nasopharyngeal resistome strongly correlates with microbiome composition, with inter-individual differences and postnatal age explaining most of the variation. Our report on the collateral effects of antibiotics and prolonged hospitalization underscores the urgency of further studies focused on this relatively unexplored reservoir of pathogens and ARGs.
Keywords: preterm infants, respiratory resistome, whole genome sequencing, genetics, drug effects
Published in DiRROS: 12.12.2025; Views: 263; Downloads: 141
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Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Evangelos Bellos, Dilys Santillo, Pierre Vantourout, Heather R. Jackson, Amedine Duret, Henry Hearn, Yoann Seeleuthner, Estelle Talouarn, Stephanie Hodeib, Harsita Patel, Tadej Avčin, Katarina Vincek, 2024, original scientific article

Abstract: Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, “burdenMC,” which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.2, 95% CI: 3.5–5.3, P < 10−6). BTNL8 encodes an intestinal epithelial regulator of Vγ4+γδ T cells implicated in regulating gut homeostasis. Enrichment was exclusive to MIS-C, being absent in patients with COVID-19 or bacterial disease. Using an available functional test for BTNL8, rare variants from a larger cohort of MIS-C patients (n = 835) were tested which identified eight variants in 18 patients (2.2%) with impaired engagement of Vγ4+γδ T cells. Most of these variants were in the B30.2 domain of BTNL8 implicated in sensing epithelial cell status. These findings were associated with altered intestinal permeability, suggesting a possible link between disrupted gut homeostasis and MIS-C-associated enteropathy triggered by SARS-CoV-2.
Keywords: human diseases genetics, Infectious diseases and host defense, innate immunity and inflammation, SARS-Cov-2
Published in DiRROS: 02.12.2025; Views: 340; Downloads: 189
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7.
Lizard host abundances and climatic factors explain phylogenetic diversity and prevalence of blood parasites on an oceanic island
Rodrigo Megía-Palma, Gemma Palomar, Javier Martínez, Bernardo Antunes, Katarzyna Dudek, Anamarija Žagar, Nina Guerra Serén, Miguel A. Carretero, Wiesław Babik, Santiago Merino, 2023, complete scientific database of research data

Abstract: 1. Host abundance might favour the maintenance of a high phylogenetic diversity of some parasites via rapid transmission rates. Blood parasites of insular lizards represent a good model to test this hypothesis because these parasites can be particularly prevalent in islands and host lizards highly abundant. 2. We applied deep amplicon sequencing and analysed environmental predictors of blood parasite prevalence and phylogenetic diversity in the endemic lizard Gallotia galloti across 24 localities on Tenerife, an island in the Canary archipelago that has experienced increasing warming and drought in recent years. 3. Parasite prevalence assessed by microscopy was over 94% and a higher proportion of infected lizards was found in warmer and drier locations. A total of 33 different 18s rRNA parasite haplotype were identified and the phylogenetic analyses indicated that they belong to two genera of Adeleorina (Apicomplexa: Coccidia), with Karyolysus as the dominant genus. The most important predictor of between-locality variation in parasite phylogenetic diversity was the abundance of lizard hosts. 4. A combination of climatic and host demographic factors associated with an insular syndrome may be favouring a rapid transmission of blood parasites among lizards on Tenerife, which may favour the maintenance of a high phylogenetic diversity of parasites.
Keywords: lizards, parasites, genetics, biogeography, habitat, data
Published in DiRROS: 27.10.2025; Views: 350; Downloads: 208
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8.
Contribution of genetic versus plastic responses to adaptive patterns in a widespread butterfly along a latitudinal cline
Franziska Günter, Michaël Beaulieu, Kasimir F. Freiberg, Ines Welzel, Nia Toshkova, Anamarija Žagar, Tatjana Simčič, Klaus Fischer, 2020, complete scientific database of research data

Abstract: Understanding how organisms adapt to complex environments is a central goal of evolutionary biology and ecology. This issue is of special interest in the current era of rapidly changing climatic conditions. Here, we investigate clinal variation and plastic responses in life history, morphology, and physiology in the butterfly Pieris napi along a pan-European gradient by exposing butterflies raised in captivity to different temperatures. We found clinal variation in body size, growth rates and concomitant development time, wing aspect ratio, wing melanisation, and heat tolerance. Individuals from warmer environments were more heat-tolerant, had less melanised wings and a shorter development but still they were larger than individuals from cooler environments. These findings suggest selection for rapid growth in the warmth and for wing melanisation in the cold, and thus fine-tuned genetic adaptation to local climates. Irrespective of the origin of butterflies, the effects of higher developmental temperature were largely as expected, speeding up development, reducing body size, potential metabolic activity, and wing melanisation, while increasing heat tolerance. At least in part, these patterns likely reflect adaptive phenotypic plasticity. In summary, our study revealed pronounced plastic and genetic responses, which may indicate high adaptive capacities in our study organism. Whether this may help such species though to deal with current climate change needs further investigation, as clinal patterns have typically evolved over long periods.
Keywords: butterflies, morphology, physiology, genetics, climate change, data
Published in DiRROS: 27.10.2025; Views: 367; Downloads: 211
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9.
Biogeography, macroevolutionary patterns and population genetics in golden orbweaver spiders (Nephilidae) : doctoral dissertation
Eva Turk, 2022, doctoral dissertation

Keywords: biogeography, speciation, extinction, population genetics, Nephilidae
Published in DiRROS: 13.10.2025; Views: 335; Downloads: 160
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10.
Silver binding dichotomy for 7-deazaadenine/thymine : preference for Watson–Crick pairing over homobase interactions in DNA
Carmen López-Chamorro, Antonio Pérez-Romero, Alicia Domínguez-Martín, Uroš Javornik, Oscar Palacios, Janez Plavec, Miguel A. Galindo, 2025, original scientific article

Abstract: DNA strands modified with 7-deazaadenine (X) and 7-deazaguanine (Y) have shown promise in forming silver-DNA assemblies while maintaining canonical Watson–Crick base pairing, highlighting the compatibility of silver binding with standard DNA structures. However, critical questions remain regarding the binding preferences of AgI ions to sequences containing 7-deazapurine bases, particularly the prevalence of silver-modified Watson–Crick base pairs versus alternative homobase pair arrangements. To address this, we examined the binding of AgI to complementary X-T sequences, demonstrating a strong preference for canonical X-AgI-T pairing over homoleptic X-AgI-X or T-AgI-T pairs. Additionally, we report the discovery of a novel metallized DNA duplex featuring continuous X-AgI-X homobase pairs, whose structural analysis at the monomeric level, using model base 9-propyl-7-deazaadenine (pX) and AgI salts, reveals a unique silver-binding pattern through the Watson–Crick face. These findings not only advance our understanding of silver-mediated DNA architectures using 7-deazapurines but also provide a foundation for the rational design of sophisticated metal-DNA nanostructures with tailored properties, opening new avenues for the development of functional DNA-based materials.
Keywords: crystal structure, genetics, ions, silver, solution chemistry
Published in DiRROS: 08.09.2025; Views: 517; Downloads: 240
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