Electromagnetic Intraoperative Positioning System (IOPS) Is Safe and Effective as a 3D Imaging Adjunct in Endovascular Aortic Surgery-A Safety and Feasibility Study.

Shifting patterns of child sexual abuse and help-seeking in Eswatini: National evidence from two generations of young women.

To genotype the minor component in two-person DNA mixtures with ratios greater than 15:1, researchers have described the use of autosomal markers known as DIP-STRs. These markers combine a biallelic deletion (S-DIP) or insertion (L-DIP) polymorphism physically linked to a nearby STR. This methodology enables the detection of minor DNA components present at up to 1,000-fold lower quantities than the major contributor. DIP-STR markers have been thoroughly characterized in the Swiss population, to a lesser extent in the Han Chinese and Polish populations, but no studies have been conducted in Latin American populations. Here, we investigated DIP-STR markers in the population of Córdoba, Argentina, by determining the allele frequencies of DIP-STR haplotypes in 100 individuals from different regions of the province. Among the 23 markers analyzed, 21 exhibited a high probability of being informative in this population, comparable to that observed in European populations, thus supporting the applicability of this strategy for resolving highly unbalanced DNA mixtures. Additionally, DIP-STR haplotypes were analyzed to infer biogeographic origin, using the Bayesian clustering algorithm Structure, with the HGDP-CEPH panel as reference population. The results revealed a clear distinction among major continental regions, with significant ancestral contributions of European, followed by Native American, and African origin. These findings are consistent with the regional demographic history and underscore the effectiveness of the haplotype approach for ancestry-informative markers in the Argentine population. In conclusion, DIP-STRs represent a valuable forensic tool, combining mixture deconvolution with biogeographic ancestry inference.

Endangered woody plants are threatened by habitat degradation, demographic instability, and genetic erosion. Ormosia microphylla (small-leaved Ormosia) is an endangered tree, but how genetic, demographic, and environmental factors jointly contribute to its decline remains insufficiently resolved. We investigated the age structure of seven wild O. microphylla populations and resequenced 62 adult individuals to assess genetic variation, population structure, linkage disequilibrium, gene flow and demographic history. In three representative populations, we further quantified seed production, germination, logging traces, soil properties and bird diversity, and integrated these variables using exploratory Spearman correlations, standardized multi-factor indices and principal component analysis (PCA). Overall, 71% of the surveyed populations exhibited unstable age structures. All populations showed low genome-wide nucleotide diversity (π < 0.005) and were grouped into three geographically interpretable genetic clusters: GX, HG and HN. TreeMix detected limited gene flow among clusters, and smc + + inferred historical declines in effective population size, with a slower decline in HN than in GX and HG. Rapid LD decay indicated that low diversity was not accompanied by extensive genome-wide linkage. Selective sweep analyses identified cluster-specific enriched pathways, including cutin, suberin and wax biosynthesis in HG and phenylpropanoid biosynthesis in HN. Among representative populations, all produced viable seeds, but seed production declined annually and germination was constrained by the seed coat. Spearman correlations among bird diversity, stump counts, seed output and recruitment were weak and non-significant. PCA indicated that regeneration status, mature-tree availability and reproductive output defined the primary population-performance gradient, whereas disturbance pressure and biotic support formed a secondary external-context gradient. O. microphylla vulnerability is associated with interacting genetic risks, demographic imbalance, reproductive limitation and external pressures, supporting targeted in situ protection, within-cluster genetic management and cluster-representative ex situ conservation.

Ancestral Recombination Graphs (ARGs) provide a comprehensive representation of genetic ancestry and underpin analyses of natural selection, disease association, and population history. However, existing visualization tools are limited in scalability and interactivity, making ARGs difficult to explore at biobank scale. We introduce Lorax, a GPU-accelerated, web-native platform for real-time visualization of population-scale ARGs. Lorax integrates genomic position, coalescent time, local genealogy, and metadata, enabling interactive exploration of ancestry and variant inheritance in biobank-scale datasets. Lorax is freely available as a live demo at lorax.ucsc.edu and as a Python package 'lorax-arg' on PyPI. The source code and documentation are available on GitHub at https://github.com/pratikkatte/lorax. Supplementary data is available at supplementary_material.docx.

Asian hornbills are flagship species of the wet tropics that face significant threats from hunting, habitat loss, and fragmentation. Despite being conservation flagships, whole genome information is available for only two of the 32 Asian hornbill species. In this study, we provide the first de novo genome assemblies for four hornbill species (Bucerotidae) in Asia. We used a combination of long-read and short-read sequencing data to assemble and annotate de novo hybrid genomes of four species of hornbills. We also assembled and compared mitochondrial genomes of these species. Using a comparative genomics approach, we performed orthology assignment and gene evolution analyses to identify unique gene families in Asian hornbills, gene families that showed significant expansion, their functions and structural variation. Furthermore, using the Pairwise Sequentially Markov Coalescent (PSMC) method, we reconstructed demographic histories of hornbill species to examine changes in their population trajectories in the past. We present hybrid genome assemblies for Great Hornbill (B. bicornis - GH), Rufous-necked Hornbill (A. nipalensis- RNH), Malabar Pied Hornbill (A. coronatus- MPH) and Wreathed Hornbill (R. undulatus- WH). The genome sizes of these hornbills range from 1.1 Gb to 1.3 Gb, with over 95.9% completeness and gene prediction BUSCO. We reported 10,525 orthogroups shared among four Asian hornbill species and identified significant expansion in gene families associated with structural keratin development in Asian hornbills compared to their ancestors. We also provide annotated mitogenomes for each of these species. Furthermore, we found that the WH, a more abundant, widely distributed, and migratory species, showed a higher Ne than the other three hornbill species. However, an overall decline in Ne for all species was recorded during the Pleistocene climatic fluctuations. We present the first-ever, high-quality reference genomes for the threatened hornbill species from Asia. Hornbills have shown significant expansion in genes involved in structural keratin development. Our results indicate that Pleistocene climatic fluctuations have led to dramatic population declines in all four species. We believe that this study provides robust genomic resources to support future comparative and conservation genomics efforts for hornbills.

The Arunachali mithun (Bos frontalis) is a semi-domesticated bovine of profound cultural and economic significance to the indigenous Arunachali tribal communities of Northeastern India, yet it remains among the least genomically characterised large ruminants, leaving its conservation status without an empirical genetic foundation. We performed whole-genome re-sequencing (~10× coverage) of 11 individuals and analysed 4,943,593 high-quality biallelic single nucleotide polymorphisms (SNPs) after stringent quality control. Genome-wide mean observed heterozygosity (Ho = 0.2854), expected heterozygosity (He = 0.3347), and nucleotide diversity (π = 7.16 × 10−4) revealed moderate genetic diversity, substantially lower than that of related commercial bovine species. A consistent heterozygosity deficit (Ho − He = −0.0493) and the convergence of four independent inbreeding coefficients around 0.143–0.147 indicated moderate inbreeding of predominantly reflecting an ancient origin, corroborated by runs of homozygosity (ROH) analysis in which 93.2% of 24,937 detected segments fell in the short length class (100–250 kb). Linkage disequilibrium decayed from r2 ≈ 0.57 at &lt;100 kb to a plateau of r2 ≈ 0.33 beyond 4–5 Mb, consistent with a small effective population size (Ne) declining from approximately 101,850 (~2228 generations ago) to approximately 160 (~5 generations ago), with ab Ne of approximately 3865 at ~100 generations ago and 423 at ~10 generations ago. These findings establish a whole-genome-based genetic diversity baseline for the Arunachali mithun and provide actionable genomic evidence for conservation and managed breeding interventions.

Human colonization since the 19th century has resulted in the global spread of pines beyond their original northern boreal distribution. Although the introduction history of pines is documented through historical records, little is known about the introduction history of their ectomycorrhizal (ECM) fungi, which are critical symbionts for the survival and invasion of pines. Using Suillus luteus as an example, whole genomes of 208 individuals collected across native and introduced ranges were sequenced to reveal the introduction history of pine co-introduced ECM fungi. Population genomics analyses showed that all introductions originated from Europe. With the exception of North America, introduced populations were genetically differentiated from the European population, with varying magnitudes of population expansion in different introduced regions. Genetic variation within the native European population followed isolation by distance, but not in the introduced range, highlighting the disparity in the spatial-genetic patterns of native vs exotic habitats. The spread of S. luteus is mediated by human activities accompanying pine introductions, with its demographic history linked to forestry practices. The spatial, temporal, and demographic patterns observed in S. luteus offer insight into the population genetics of a widely introduced ECM fungus and are likely applicable to other pine co-introduced ECM fungi.

Anthopleura xanthogrammica and Diadumene lineata have considerable pharmaceutical potential, but their distribution and population genetics along the Chinese coastline remain poorly understood. We collected 162 samples of the two species based on external morphology from nine intertidal sites. Subsequent analyses of the mitochondrial COI segment (607 bp) confirmed 143 A. xanthogrammica individuals across all nine localities, and only 19 D. lineata individuals restricted to three localities. For A. xanthogrammica, genetic diversity, phylogenetic relationships, population structure and demographic history were analyzed using combined mitochondrial segments (COI + 16S rRNA: 1,055 bp) and nuclear segments (28S rRNA: 316 bp; ITS: 658 bp). This species showed high genetic polymorphism. Mitochondrial DNA data (neutrality tests, mismatch distributions, haplotype network) suggested a historical and mild population expansion, while phylogenetic and molecular variance analyses indicated limited gene flow and high genetic differentiation among geographic populations. Population structure supported three management units for the conservation of this species. For D. lineata, we attempted genetic diversity and neutrality tests using the same molecular markers, but the results were unreliable due to the small sample size. Future studies should identify more suitable sampling sites and use a larger sample size to assess its genetic polymorphism and population structure.

Demographic history can shape the genetic load of populations by influencing the efficacy of selection, levels of heterozygosity, and the incorporation of new variants via gene flow. Understanding these dynamics is crucial for identifying threats to population viability and predicting evolutionary trajectories of invasive populations translocated by humans into nonnative environments. We investigate these processes in Trinidadian guppies (Poecilia reticulata) by estimating genetic loads across multiple populations, with a particular focus on a single expanding population in which translocated individuals have rapidly spread and replaced native individuals. Overall, we observe the expected negative relationship between neutral genetic diversity and relative genetic load. In the translocated population, patterns differ between strongly and weakly deleterious mutations. Strongly deleterious alleles are purged at the isolated translocation site but tend to accumulate along the expansion front. In contrast, the genetic load estimated based on weakly deleterious variants declines along the expansion gradient. These differing patterns can be explained by admixture with native populations (which carried fewer weakly deleterious mutations) reducing the overall genetic load of the population at the expansion front. However, admixture has also increased genetic diversity and introduced new strongly deleterious alleles, thereby reversing the purging effect. Together, our findings illustrate the complex interactions determining genetic load in subdivided populations, offering important insights into the evolutionary aspects of biological invasions.

The effects of past environmental changes on the demography and genetic diversity of relict species remain poorly understood. Such studies have rarely been conducted across multiple phylogenetically distant species, largely because of their rarity. Here, we investigated impacts of long-term climatic changes on the evolution and survival of three herbaceous Tertiary relict species endemic to heavy snowfall regions of Japan. Using population genomic analyses based on plastome sequences, we reconstructed phylogeographic patterns, including demographic histories, and explored potential drivers of similarities and differences among the species. Divergence times from close relatives were estimated at ca. 64Ma for Glaucidium palmatum, 23Ma for Ranzania japonica, and 12Ma for Paris japonica, all of which predate the Pleistocene. The time to the most recent common ancestor (tMRCA) for each species ranged from approximately 0.03 to 3Ma. Effective population sizes of species and regional groups expanded rapidly between approximately 100,000 and 10,000 years before present. Patterns of genetic diversity and geographic structure among the three relict species appear to reflect differences in dispersal ability and the locations of climatic refugia. Despite variation in tMRCAs among the three species, demographic expansions consistently occurred during the late Pleistocene and were likely associated with the development of heavy snowfall climate.

Biobank-scale datasets now routinely include hundreds of thousands to millions of individuals, and as sample sizes grow, close relatives become increasingly prevalent. The convention in population genetics has been to remove close relatives prior to inference, effectively treating them as a nuisance parameter. However, the consequences of this practice for demographic inference, and specifically for estimates of recent effective population size ( N e ), have not been rigorously evaluated. Here, we benchmark IBDNe and HapNe-IBD, two widely-used methods for inferring recent N e from identity-by-descent (IBD) segments, under a range of demographic histories and relative sampling schemes. We show that when individuals are randomly ascertained, retaining all relatives produces the least biased N e estimates; in contrast, removing even second-degree relatives inflates recent N e and induces oscillatory artifacts that "ripple", leading to biased estimates up to ten generations into the past. We demonstrate that this ripple effect arises because close relatives contribute IBD segments that are assigned by the model to a range of ancestral ages beyond their true TMRCA, meaning their removal creates signal deficits across multiple generations simultaneously. We further show that deliberately oversampling close relatives produces severe downward bias in recent N e . To support these analyses, we develop an open-source IBD simulation pipeline using msprime that generates realistic IBD segments under arbitrary demographic histories and Wright-Fisher pedigrees. We provide practical guidelines for IBD simulation schemes incorporating pedigrees and argue that, in the biobank era, retaining close relatives is generally the best practice for IBD-based N e inference.

Species' complex demographic history, including population size changes, isolation and gene flow, shapes patterns of genetic variation and deleterious load. In small and declining populations, understanding these processes is critical for predicting inbreeding depression and extinction risk. The Rice's whale ( Balaenoptera ricei ) is a newly described baleen whale species resident to the heavily industrialized Gulf of Mexico, with a current abundance estimate of 51 (95 % CI: 20-130) individuals, making it one of the most endangered baleen whales globally. Using whole-genome sequences from 25 individuals, we reconstructed the evolutionary and demographic history of Rice's whale and assessed its genomic health. Our analyses reinforce its distinctiveness from Bryde's whales, and suggest that Rice's whale has persisted as a small and isolated population in the Gulf of Mexico for tens of thousands of years. Despite its long-term small effective population size, genomes show modest impacts of inbreeding, including few long runs of homozygosity. We detected a distinct pulse of introgression ∼350 years ago from a Bryde's whale-like lineage that resulted in windows of elevated heterozygosity in Rice's whale, though it did not alter the burden of deleterious variation. Forward simulations indicate that a recent population collapse to ∼100 breeding individuals places the species at high risk of future inbreeding and genomic erosion unless population growth occurs. These findings highlight that while gene flow can increase genetic diversity, demographic recovery is essential to mitigate long-term genomic risks, underscoring the importance of management actions that promote sustained population growth.

ABSTRACTThe ragweed leaf beetle Ophraella communa LeSage is an exotic species reported to have been introduced to Korea in 2002. It has spread and inhabits the entire Korean Peninsula using ragweed, an alien plant that invaded the Korean Peninsula after the Korean War (1950–1953), as its host plant. To infer the spread routes of the exotic ragweed leaf beetle in domestic areas of the Korean Peninsula, we analyzed the genetic structure and demographic history of the species collected from 12 domestic areas leveraging mitochondrial DNA sequence (MT) and microsatellite loci genotype (MS). For MT, haplotype network analysis identified two high‐frequency haplotypes linked via eight median vectors. MS indicated that the species had three invasive routes into the Korean Peninsula and was divided into three groups. MT and MS results differed in the number of invading populations considered. These differences were suggested to stem from resolution variations due to the founder effect. In conclusion, at least two O. communa populations may invade several international ports of the Korean Peninsula and spread domestically via hitchhiking on transport. Individuals spread by transportation may disperse into local areas due to the behavioral traits of O. communa being strongly attracted to the host plant Ambrosia artemisiifolia. We anticipate that our findings will help pinpoint critical areas for preventing the inland spread of exotic species.

Cunninghamia lanceolata genome illuminates the evolutionary dynamics of gymnosperms.

Identification of predictors associated with progression to Secondary progressive multiple sclerosis (SPMS) remains clinically important for optimizing long-term disease management. We aimed to evaluate demographic, clinical, and disease-modifying therapy (DMT)-related factors associated with progression to SPMS in a real-world cohort of patients with MS. In this retrospective cohort study, 650 MS patients diagnosed between 2013 and 2019 were enrolled and followed until 2024. Demographic characteristics, clinical variables and DMT history were compared between patients with benign MS and those who progressed to SPMS. Multivariate Cox regression analysis was performed to identify independent predictors of progression to SPMS. About 12.3% of patients developed SPMS. Male sex (p ≤ 0.001), Current age (p ≤ 0.001), longer disease duration (p ≤ 0.001), higher baseline and current Expanded Disability Status Scale (EDSS) (p ≤ 0.001), increased relapse frequency and hospitalization (p ≤ 0.001), diagnostic delay (p = 0.012), polysymptomatic onset (p = 0.05), and DMT switching (p ≤ 0.001) were significantly associated with SPMS conversion. In multivariate analysis, diagnostic delay [HR 1.14 (95% CI 1.07-1.20), p < 0.001], baseline EDSS [HR 1.22 (95% CI 1.07-1.40), p = 0.003], and current EDSS [HR 1.94 (95% CI 1.74-2.16), p < 0.001] independently predicted the risk of progression to SPMS. Progression to SPMS was associated with several demographic and clinical factors, particularly delayed diagnosis and higher disability burden. Early diagnosis and prompt initiation of effective treatment strategies may play a critical role in reducing long-term disability progression in MS patients.

To estimate the incidence of endometrial cancer in women who used low, moderate, or high-dose vaginal estrogen compared with women who used estrogen plus progestogen therapy (EPT). This cohort study included postmenopausal women from the United States Healthcare Integrated Research Database (HIRD) and the Swedish National Registers. The index date was the date of treatment initiation between January 1, 2007 and December 31, 2021, in the HIRD or between July 1, 2007 and December 31, 2019, in Sweden. Participants had at least 1 year of baseline continuous health plan enrollment or 2 years of Swedish residency, and no history of hormone therapy use, hysterectomy, or endometrial cancer. Hazard ratios (HR) and confidence intervals were estimated using Cox proportional hazards models adjusted for demographic, comorbid, and prescription history. In the HIRD, the HR for endometrial cancer when comparing low-dose vaginal estrogen to EPT was 0.74 (0.45-1.22). In the Swedish Registers, this association was 1.34 (0.84-2.13). Moderate-dose vaginal estrogen initiation was positively associated with endometrial cancer compared with EPT in the HIRD (HR= 1.95 ;0.86-4.45) but not in Sweden (HR=1.15; 0.73-1.83). High-dose Premarin vaginal cream had an association of 0.84 (0.49-1.44) compared with EPT (HIRD). Rates of endometrial cancer among women using low and high-dose vaginal estrogens were comparable to rates among women using EPT.

ABSTRACTHabitat fragmentation poses a major threat to endangered species by isolating populations and disrupting gene flow. The vulnerable Chinese water deer (Hydropotes inermis) in northeastern China offers a critical case for understanding how fragmented landscapes influence genetic viability. Through noninvasive sampling of 286 individuals genotyped at 11 microsatellite loci and mitochondrial markers, we evaluated genetic diversity, structure, and dispersal dynamics. Although microsatellite diversity was moderate (mean He = 0.661), positive Fis values indicated inbreeding or nonrandom mating within local groups. Surprisingly, population genetic structure was extremely weak (overall Fst = 0.008), and contemporary gene flow remained high, revealing that connectivity persists despite extensive habitat fragmentation. Our analyses show that this connectivity is maintained primarily through female‐biased dispersal—a striking contrast to the male‐biased dispersal typical of most artiodactyls. Higher female assignment indices and a greater proportion of females identified as recent dispersers consistently supported this pattern. Mitochondrial data further suggested a historical population expansion, providing context for the current genetic composition. These findings indicate that female‐mediated movement functions as a natural genetic rescue mechanism, mitigating the genetic drift and inbreeding expected in small, isolated populations. From a conservation perspective, this behavioral adaptation is essential for sustaining population viability. Effective management should therefore prioritize the protection and restoration of habitat corridors that facilitate female movement, ensuring that natural dispersal processes continue to maintain genetic health and long‐term persistence of Chinese water deer in northeastern China.

Moderators of the impact of e-cigarette provision on smoking cessation: secondary analyses from a large naturalistic randomized clinical trial in the US.

Human body form reveals cumulative effects of ecological and socio-cultural factors. China's provides an exceptional context for investigating these multifactorial influences, not only because of its extensive geographic and cultural diversity, but also because recent decades have been marked by rapid economic development, urbanisation, migration, and the population-level trauma of the Great Famine. Using anthropometric data from > 90,000 adults across 213 geo-referenced groups from mid-late-20th and early-21st centuries, we applied Bayesian hierarchical models to assess the roles of climate, altitude, urban-rural status, linguistic affiliation, and time in shaping stature, body mass, relative sitting height, and body breadth. Substantial secular increases in body size, particularly body mass, were associated with recent economic development and urbanisation. Males and females responded similarly across environmental and temporal gradients, indicating limited sex-based differentiation. Northern groups remained taller and heavier than their southern counterparts. Notably, maximum precipitation, not temperature, emerged as the strongest climatic correlate, likely reflecting indirect effects of subsistence and disease burden. Relative sitting height increased modestly over time, while relative body breadth showed a stable east-west gradient, potentially shaped by population history. Regional exceptions, including highland Tibetan and Sherpa populations and northeastern groups, along with widening divergence among linguistic subgroups, underscore the persistent roles of migration, developmental constraints and potential high-altitude adaptation. These findings show that recent changes in human body form in China cannot be understood as simple outcomes of modernisation alone, but instead reflect layered interactions among ecology, population history, socio-economic transformation, and cohort-specific historical experience.