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The Dinaric Karst, a biodiversity hotspot, features complex surface and subterranean hydrological networks that influence aquatic species distribution. This study investigates how karst hydrology shapes the genetic structure of the surface‐dwelling minnow Phoxinus lumaireul, examining both large‐scale and small‐scale population patterns. Using mitochondrial DNA and genome‐wide single nucleotide polymorphism (SNP) data of 827 specimens of P. lumaireul, three hypotheses were tested: (1) karst underground water connections facilitate genetic connectivity within and across river systems, whereas non‐karst rivers exhibit genetic connectivity mostly within the same system; (2) historical and occasional hydrological connections have shaped present‐day population structure, leaving genetic signatures of relatedness where no contemporary hydrological links exist; and (3) genomic approaches provide additional insights into biologically relevant connections that may not be captured by classical tracing tests. The large‐scale analyses confirmed three main genetic groups (1a–c), whose structure was likely shaped by Pleistocene glaciations and associated microrefugia rather than by karst hydrology. Small‐scale structure analyses revealed that while karst hydrology facilitated gene flow within specific areas, connectivity was uneven and influenced by local hydrological dynamics and historical admixture events. Furthermore, some underground pathways identified by classical tracing tests lacked evidence of genetic connectivity, underscoring the limitations of traditional methods and the added value of genomic data in indirectly detecting biologically relevant hydrological connections. These findings highlight the influence of both historical processes and contemporary karst hydrology on P. lumaireul populations, emphasizing their vulnerability in karst ecosystems and the need for targeted conservation efforts.

The genetic etiology and the contribution of rare genetic variation in multiple sclerosis (MS) has not yet been elucidated. Although familial forms of MS have been described, no convincing rare and penetrant variants have been reported to date. We aimed to characterize the contribution of rare genetic variation in familial and sporadic MS and have identified a family with two sibs affected by concomitant MS and malignant melanoma (MM). We performed whole exome sequencing in this primary family and 38 multiplex MS families and 44 sporadic MS cases and performed transcriptional and immunologic assessment of the identified variants. We identified a potentially causative homozygous missense variant in NLRP1 gene (Gly587Ser) in the primary family. Further possibly pathogenic NLRP1 variants were identified in the expanded cohort of patients. Stimulation of peripheral blood mononuclear cells from MS patients with putatively pathogenic NLRP1 variants showed an increase in IL-1B gene expression and active cytokine IL-1β production, as well as global activation of NLRP1-driven immunologic pathways. We report a novel familial association of MS and MM, and propose a possible underlying genetic basis in NLRP1 gene. Furthermore, we provide initial evidence of the broader implications of NLRP1-related pathway dysfunction in MS.

The Dinaric Karst extends along the Adriatic coast of the Western Balkan Peninsula and is home to a group of “karst minnows” of the genera Delminichthys, Phoxinellus, and Telestes, which have adapted to the highly variable water conditions in the karst by spending up to several months underground, but require surface habitats for spawning, defining them as substygophiles. The three species of the genus Phoxinellus, P. alepidotus, P. pseudalepidotus, and P. dalmaticus, are defined by restricted ranges, making them vulnerable to pollution and extended draughts caused by the climate change. In this study, the phylogeny of Leusciscinae was reconstructed using 15 Phoxinellus and one Delminichthys adspersus, one Pelasgus epiroticus, and one Telestes polylepis complete mitochondrial genomes and the position of the genus Phoxinellus within the subfamily as sister species to the Chondrostoma clade was confirmed. The inter‐ and intrapopulation structure of the genus Phoxinellus was inferred using molecular (nuclear and mitochondrial data) and morphological analyses. For the molecular analysis, more than 150 historical specimens were analyzed for a short fragment of the cytochrome oxidase I (COI) barcoding region and 15 Phoxinellus specimens were subjected to single nucleotide polymorphism analysis. For morphological analysis, 121 Phoxinellus specimens were analyzed for 51 measurements and 8 counts. All analyses confirmed the clear delimitation of the three Phoxinellus species, but were insufficient to fully resolve the intrapopulation structure within the species. This study also included data from field surveys of Phoxinellus collected over the past 20 years, which showed that abundance is declining and ranges are shrinking. Phoxinellus are also threatened by invasive/introduced species. Based on cave observations/occurrence and morphological analysis, P. dalmaticus was classified as an advanced substygophile and P. alepidotus and P. pseudalepidotus were classified as basic stygophiles. Phoxinellus minnows have adapted to the highly variable water conditions of karst poljes, ranging from floods to draughts within shorter (seasonal, annual) and longer (decadal) periods. In this study, based on the analysis of their morphological characters and their presence (or absence) in caves, they were classified more precisely, with P. dalmaticus as an advanced substygophile and P. alepidotus and P. pseudalepidotus as basic substygophiles. The reduction of their population size and distribution was documented herein. An integral approach of molecular and morphological analyses coupled with field observations and paleohydrology helped to elucidate different aspects of the biology of this locally endemic species, which will be crucial for their conservation. Finally, with the use of historical collections, we were able to include extinct populations of P. alepidotus in the analysis.

Museum collections are an important source for resolving taxonomic issues and species delimitation. Type specimens as name-bearing specimens, traditionally used in morphology-based taxonomy, are, due to the progress in historical DNA methodology, increasingly used in molecular taxonomic studies. Museum collections are subject to constant deterioration and major disasters. The digitisation of collections offers a partial solution to these problems and makes museum collections more accessible to the wider scientific community. The Extended Specimen Approach (ESA) is a method of digitisation that goes beyond the physical specimen to include the historical information stored in the collection. The collections of the Natural History Museum Vienna represent one of the largest non-university research centres in Europe and, due to their size and numerous type specimens, are frequently used for taxonomic studies by visiting and resident scientists. Recently, a version of ESA was presented in the common catalogue of the Fish and Evertebrata Varia collections and extended to include genetic information on type specimens in a case study of a torpedo ray. Here the case study was extended to a heterogeneous selection of historical type series from different collections with the type locality of Vienna. The goal was to apply the ESA, including genetic data on a selected set of type material: three parasitic worms, three myriapods, two insects, twelve fishes, and one bird species. Five hundred digital items (photographs, X-rays, scans) were produced, and genetic analysis was successful in eleven of the 21 type series. In one case a complete mitochondrial genome was assembled, and in another case ten short fragments (100–230 bp) of the cytochrome oxidase I gene were amplified and sequenced. For five type series, genetic analysis confirmed their taxonomic status as previously recognised synonyms, and for one the analysis supported its status as a distinct species. For two species, genetic information was provided for the first time. This catalogue thus demonstrates the usefulness of ESA in providing digitised data of types that can be easily made available to scientists worldwide for further study.

Massive fish introductions have taken place throughout much of the world, mostly over the last 70 years, and present a major threat to the genetic diversity of native fishes. Introductions have been reported for European Phoxinus, a ubiquitous small cyprinid that populates a wide variety of habitats. Species delineation in European Phoxinus has proven difficult with one reason being ranges of distribution that often traverse drainage boundaries. The present study combines recent samples with museum samples to better understand the current distribution of Phoxinus species and their distributions prior to the massive introductions of fishes in Europe, and to evaluate the use of museum specimens for species distribution studies. For these purposes, genetic lineages from sites collected prior to 1900 (n = 14), and between 1900 and 1950 (n = 8), were analysed using two mitochondrial and nuclear markers. Although possible fish introductions were detected, our results show that the distribution of genetic lineages of museum samples is comparable to that of the extant lineages of European Phoxinus present in those areas. These observations suggest that in the studied ranges the distribution of Phoxinus lineages has been driven by natural processes.

Background Molecular taxonomy studies and barcoding projects can provide rapid means of detecting cryptic diversity. Nevertheless, the use of molecular data for species delimitation should be undertaken with caution. Especially the single-gene approaches are linked with certain pitfalls for taxonomical inference. In the present study, recent and historical species descriptions based upon morphology were used as primary species hypotheses, which were then evaluated with molecular data (including in type and historical museum material) to form secondary species hypotheses. As an example of cryptic diversity and taxonomic controversy, the European Phoxinus phoxinus species complex was used. Results The results of the revision showed that of the fourteen primary species hypotheses, three were rejected, namely P. ketmaieri , P. likai , and P. apollonicus . For three species ( P. strandjae , P. strymonicus, P. morella ), further investigation with increased data sampling was suggested, while two primary hypotheses, P. bigerri and P. colchicus , were supported as secondary species hypotheses. Finally, six of the primary species hypotheses ( P. phoxinus , P. lumaireul , P. karsticus , P. septimanae , P. marsilii and P. csikii ) were well supported by mitochondrial but only limitedly corroborated by nuclear data analysis. Conclusion The approach has proven useful for revision of species complexes, and the study can serve as an overview of the Phoxinus genus in Europe, as well as a solid basis for further work.

Fresh waters are among the most endangered ecosystems, one of the problems being the lack of data on biodiversity. In the center of the missing knowledge are cryptic species, two (or more) species classified as a single one due to their (seemingly) indistinguishable morphology. Lack of research and stabilizing selection are reflected in the cryptic diversity of the genus Phoxinus (Leusciscidae), the studies of which have intensified over the last two decades and reveal undetected taxonomic complexity. Moreover, some of the Phoxinus lineages act as invasive species, while others are endangered by their alien counterparts. Minnows have been intentionally (as food for predatory fish species) or unintentionally (with other fries) stocked causing hybridisation zones in Norway, Portugal, Spain, France, Italy, Germany and Austria. Given that genetic identity and lineage assignment of Phoxinus from Belgium and the Netherlands have not been researched, the goal of the study was to examine available samples from known localities in the area in order to infer- whether they are native or not. For this purpose, the barcoding region cytochrome oxidase I, another mitochondrial gene cytochrome b, a nuclear recombination activating gene 1 and a combination of these markers from a wider neighboring region were analyzed. The study found four different Phoxinus species/lineages occurring in Belgium and the Netherlands: P. phoxinus, P. csikii, P. septimaniae and genetic lineage 11 (possibly P.cf. morella). While the first seem to be native, the other three were probably introduced.

The waters of the Dinaric Karst drain into both the Adriatic and the Black Sea basins. Precipitation is high, yet surface waters are scarce, with the exception of sinking streams. Dinaric Karst is a biodiversity hotspot, with diverse speleo- and epigean freshwater fauna. The distribution patterns of taxa in Dinaric Karst have arisen from a combination of vicariance and dispersal and their alteration over time. Within fishes, there are genera that include both species that are widespread and species with restricted ranges (e.g., Phoxinus, Telestes), and genera with only restricted distributions (e.g., Delminichthys, Phoxinellus). Some (Delminichthys, Phoxinellus and Dinaric Telestes) have a similar lifestyle, specialized for dwelling in sinking streams in karst poljes. The present study compares the distribution ranges of Phoxinus, Delminichthys, Phoxinellus and Telestes in Dinaric Karst based upon their mitochondrial genetic lineages, including dating of divergence times and reconstruction of ancestral geographic ranges. The biology of Phoxinus has played a major role in its wider distribution than the other three genera, which exhibit some limited ability to migrate underground, but which cannot disperse along main river courses due to their specific adaptation for dwelling in the sinking streams of karst poljes.

Semaglutide is a glucagon-like peptide-1 receptor agonist used in the treatment of type 2 diabetes mellitus and management of obesity. Associations of glucagon-like peptide-1 receptor agonist use with psychiatric adverse events and suicidal behavior have been reported. A man in his late 70s with type 2 diabetes and no history of psychiatric illness or cognitive deficits was admitted to our clinic after his first suicide attempt involving the impulsive ingestion of brush cleaner liquid. A month before his presentation, he reported restlessness and depressive mood without any apparent trigger. This period was consistent with the time of semaglutide introduction. His psychiatric symptoms improved after semaglutide discontinuation. This case report highlights the importance of regular monitoring of depression and anxiety symptoms and the possibility of suicidal ideation in individuals with type 2 diabetes treated with semaglutide. This may enable early detection and prevention of serious psychiatric adverse events.

European bullhead sensus lato is a species complex, in which lineage determination based on morphology has proven to be extremely difficult, probably due to low interspecific and high intraspeciefic morphological variation. Therefore, major evolutionary lineages across Europe have been determined based on molecular data, which also to some extent corresponds to known morphological variation. Cottus populations on the Balkan Peninsula have not yet been thoroughly studied. Thus we used molecular genetic approach (mtDNA-CR and nu-LSU) to evaluate evolutionary distinctive units of Cottus in the Western Balkans and compare them to other European lineages. We found presence of five distinct lineages. Populations corresponding to Cottus gobio clade inhabit tributaries of Danube River in southern Serbia, rivers of Adriatic drainage and Drava River. Interestingly, we found three additional Cottus linages in Sava River and its tributaries, differing considerably from “main” C. gobio. First, we confirmed morphologically determined Cottus meate from Upper Sava, with species range from the source of Sava River, including tributaries, to the inflow of Kolpa River. Second, we found a new lineage inhabiting the Kolpa and Una river systems. Third, lineage was found inhabiting Bosna and Vrbas rivers. High density of evolutionary distinctive lineages in such a small area is according to our knowledge exceptional for European bullhead and lines up with the general notion of the Balkans as major refuge and present day biodiversity hotspot. Our results correspond with two wave colonization theory of Europe by Cottus genus probosed by Volckaert, first possibly being in Pliocene and second during the Pleistocene, with Balkan Peninsula as starting point for both of them.