Full Matches Research Articles

Matrilineal and Patrilineal Genetic Continuity of Two Iron Age Individuals from a Pazyryk Culture Burial

In this study, geographic and linguistic distributions of contemporary and ancient matches with the
 paternal and maternal lineages of two individuals exhumed from the exemplary Pazyryk culture burial site of Ak-Alakha-1 mound 1 were investigated. Using the shared paternal and maternal haplotypes observed in both ancient individuals, extensive database and literature searches were conducted revealing numerous full matches among contemporary Eurasians, majority of whom speak Altaic Languages. Despite the current focus on the two Pazyryk individuals, a rare glimpse into the ancient migrations was gained through the discovery of paternal and maternal haplotype matches across an immense geography that spans from Yakutia to Turkey. In addition to a vast array of archaeological findings in such Scythian “frozen graves” across Central Asia, accumulating archaeogenetic data are expected to shed light on the anthropology of these otherwise mysterious people.

Imitation of Novel Intransitive Body Actions in a Beluga Whale (Delphinapterus leucas): A "Do as Other Does" Study.

Cetaceans are well known for their unique behavioral habits, such as calls and tactics. The possibility that these are acquired through social learning continues to be explored. This study investigates the ability of a young beluga whale to imitate novel behaviors. Using a do-as-other-does paradigm, the subject observed the performance of a conspecific demonstrator involving familiar and novel behaviors. The subject: (1) learned a specific 'copy' command; (2) copied 100% of the demonstrator's familiar behaviors and accurately reproduced two out of three novel actions; (3) achieved full matches on the first trial for a subset of familiar behaviors; and (4) demonstrated proficiency in coping with each familiar behavior as well as the two novel behaviors. This study provides the first experimental evidence of a beluga whale's ability to imitate novel intransitive (non-object-oriented) body movements on command. These results contribute to our understanding of the remarkable ability of cetaceans, including dolphins, orcas, and now beluga whales, to engage in multimodal imitation involving sounds and movements. This ability, rarely documented in non-human animals, has significant implications for the development of survival strategies, such as the acquisition of knowledge about natal philopatry, migration routes, and traditional feeding areas, among these marine mammals.

De novo high-accuracy transcriptomes from long-read sequencing reveals a wide variety of novel splice variants in copepodids and adult female salmon lice (Lepeophtheirus salmonis)

Former transcriptome studies of the ectoparasitic salmon louse (Lepeophtheirus salmonis) are based on short-read sequencing and in silico predictions, with the disadvantage of inadequately describing splice variants and insufficient differentiation between duplicated genes. In the present study, a de novo full-length transcriptome (TSA accession GKKU00000000) was generated using single-molecule long-read RNA-sequencing (PacBio IsoSeq platform) corrected by short reads (Illumina platform) from the same RNA samples. The two samples, cephalothorax of an adult female and her copepodid offspring, were analyzed separately to facilitate comparison and identification of transcripts unique to each life stage. Each transcript has been supported by two or more full-length non-chimeric reads and at least three short reads, ensuring high-sequence accuracy. A total of 31,092 unique high-accuracy full-length transcripts with an open reading frame > 150 bp, originating from 10,034 unique loci of the salmon louse genome, were identified. More than half of the transcripts are life-stage specific, exclusively present in either the copepodid or adult sample. Approximately one-third of the transcripts were full splice matches with predicted protein coding transcripts presented in NCBI, thus validating these. More than half of the transcripts constituted novel isoforms with at least one new splicing site. We conclude that the full-length transcriptomes represent a versatile reference resource of transcripts. Suitable applications include expression studies, SNP mining, and studies on the biological effects of differences in gene (or isoform) expression between copepodids and adult females. The additional functional annotation of 88% of transcripts allows for identification of gene families of particular interest and for exploration of gene networks and enrichment analysis following expression studies.

Training and match load ratios in professional soccer-should we use player- or position-specific match reference values?

Careful load management is needed to optimize the physical capacity, a key performance component, of soccer players. The training load of soccer players is often expressed as a percentage of match load. However, no study has yet evaluated how training match load ratios are affected by using either a player-specific or position-specific reference for match load. Therefore, this study aimed to compare training match load ratios of professional soccer players per day of a microcycle with match load being player-specific and position-specific, respectively. Additionally, the load that players typically experience per day of a microcycle and its variation should be analyzed. Therefore, a retrospective observational cohort study was conducted over a 14-month period, analyzing 11 external load measures during sessions of 20 players belonging to a team competing in the highest Swiss league. Within a microcycle, typical full matches presented a unique load for players, and they experienced higher training loads on days with a greater temporal distance to a match. Load variation proved to be highly associated with the day in a microcycle and the load measure. Substantial differences in typical load were evident in (i) trainings between players, (ii) matches both between players and positions, and (iii) training match load ratios when using player-specific or position-specific match references. The importance of individual load management in professional soccer was reaffirmed. When consulting training match load ratios for that purpose, one should be aware of the aim, select appropriate reference values depending on it, and interpret the ratios accurately to finally draw adequate conclusions.

Peak Running, Mechanical, and Physiological Demands of Professional Men's Field Hockey Matches.

The aim of this study was to investigate the peak running, mechanical, and physiological demands of players of different positions in professional men's field hockey matches. Eighteen professional male field hockey players participated in the study, and data were collected in eleven official matches. Players wore GPS units (Vector S7, Catapult Sports) and heart rate (HR) monitors (Polar H1, Polar Electros) to collect physical and physiological data. Physical and physiological output of forwards, midfielders, and defenders in full matches and during 1-min peak periods was analysed. For all metrics and positions, the values identified for the 1-min peak periods were greater than the average values of match play (p < 0.05). In terms of 1-min peak period Player Load, all three positions were significantly different from each other. Forwards achieved the highest Player Load per minute, while defenders the lowest. The distance per minute, high-speed distance per minute, and the relative average heart rate of defenders were significantly lower than of midfielders and forwards (p < 0.05). The current study revealed the peak running, mechanical, and physiological demands of professional men's field hockey matches. It is recommended when prescribing training programmes, to consider not only match average demands, but also peak demands. Forwards and midfielders displayed similar peak demands, while defenders had the lowest demands in all metrics except the number of accelerations and decelerations per minute. Player Load per minute can be used to identify the differences in peak mechanical demands between forwards and midfielders.

Ring a bell? Variable recognition of a multicomponent auditory stimulus associated with predation risk by zebrafish responding to full and partial matches

Abstract Many fishes learn to recognize correlates of predation risk by pairing novel stimuli with injury-released chemical cues released from damaged epidermal tissues. Here, zebrafish were conditioned to associate predation risk with a three-note auditory stimulus C5 (523.25 Hz) + E5 (659.25 Hz) + G5 (783.99 Hz), then tested for responses to either only one tone (C), two of the components (C + G) or the full three-note chord (C + E + G). Zebrafish conditioned with alarm cues and C + E + G responded significantly more intensely to the full C + E + G stimulus or to partial representation of the original mix (C + G) than they did to the single element (C) of the original C + E + G conditioning stimulus. The lack of a response to the single component alone may be a failure to recognize the stimulus or an interpretation that the partial component is an indicator of low risk.

Impact of the HLA Immunopeptidome on Survival of Leukemia Patients After Unrelated Donor Transplantation.

Immunopeptidome divergence between mismatched HLA-DP is a determinant of T-cell alloreactivity and clinical tolerability after fully HLA-A, -B, -C, -DRB1, -DQB1 matched unrelated donor hematopoietic cell transplantation (UD-HCT). Here, we tested this concept in HLA-A, -B, and -C disparities after single class I HLA-mismatched UD-HCT. We studied 2,391 single class I HLA-mismatched and 14,426 fully HLA-matched UD-HCT performed between 2008 and 2018 for acute leukemia or myelodysplastic syndromes. Hierarchical clustering of experimentally determined peptide-binding motifs (PBM) was used as a proxy for immunopeptidome divergence of HLA-A, -B, or -C disparities, allowing us to classify 1,629/2,391 (68.1%) of the HLA-mismatched UD-HCT as PBM-matched or PBM-mismatched. Risks associated with PBM-matching status were assessed by Cox proportional hazards models, with overall survival (OS) as the primary end point. Relative to full matches, bidirectional or unidirectional PBM mismatches in graft-versus-host (GVH) direction (PBM-GVH mismatches, 60.7%) were associated with significantly lower OS (hazard ratio [HR], 1.48; P < .0001), while unidirectional PBM mismatches in host-versus-graft direction or PBM matches (PBM-GVH matches, 39.3%) were not (HR, 1.13; P = .1017). PBM-GVH mismatches also had significantly lower OS than PBM-GVH matches in direct comparison (HR, 1.32; P = .0036). The hazards for transplant-related mortality and acute and chronic graft-versus-host disease but not relapse increased stepwise from full HLA matches to single PBM-GVH matches, and single PBM-GVH mismatches. A webtool for PBM-matching of single class I HLA-mismatched donor-recipient pairs was developed. PBM-GVH mismatches inform mortality risks after single class I HLA-mismatched UD-HCT, suggesting that prospective consideration of directional PBM-matching status might improve outcome. These findings highlight immunopeptidome divergence between mismatched HLA as a driver of clinical tolerability in UD-HCT.

Soil mapping by farmers in a Thai-Lao village in Northeast Thailand: A test of an ethnopedological research method

Having farmers draw soil maps of their communities has been frequently advocated as a faster, cheaper alternative to scientific soil surveying in developing countries. However, research on the extent to which farmers share common mental soil maps and the extent to which these match scientific maps is lacking. In this study, 11 Thai-Lao farmers were individually asked to draw maps showing the location of different types of soil in their village, and two groups of four farmers each were assembled to draw soil maps collectively. The maps were very different from each other and the extent to which they matched scientific categorizations of village soils was low. The maps of the individual farmers depicted two to five types of soil occupying two to seven zones. The map of one group depicted two types of soil in two zones, while the map of the other group depicted four types of soil in seven zones. When the soil zones on the maps drawn by the individual farmers were compared with scientific categorization of the soils at 26 sampling points, agreement was low, with an average of 11.6 full and partial matches. The performance of the group maps was not necessarily better: One group map had no full matches and only five partial matches while the other group map had 19 full and partial matches. In view of this heterogeneity in the soil knowledge of community members, ways must be found to identify the most knowledgeable farmers to draw the maps if farmer soil mapping is to be a useful research tool. This study found that the maps drawn by individuals who have had worked as hired laborers on plots in many parts of their village were generally more reliable than those drawn by farmers who had only worked on their own plots.

Purple bacteria screening for photoautohydrogenotrophic food production: Are new H2-fed isolates faster and nutritionally better than photoheterotrophically obtained reference species?

Photoautohydrogenotrophic enrichments of wastewater treatment microbiomes were performed to obtain hypothetically high-potential specialist species for biotechnological applications. From these enrichment cultures, ten photoautohydrogenotrophic species were isolated: six Rhodopseudomonas species, three Rubrivivax members and Rhodobacter blasticus. The performance of these isolates was compared to three commonly studied, and originally photoheterotrophically enriched species (Rhodopseudomonas palustris, Rhodobacter capsulatus and Rhodobacter sphaeroides), designated as reference species. Repeated subcultivations were applied to improve the initial poor performance of the isolates (acclimation effect), which resulted in increases in both maximum growth rate and protein productivity. However, the maximum growth rate of the reference species remained 3–7 times higher compared to the isolates (0.42–0.84 d−1 at 28 °C), while protein productivities remained 1.5–1.7 times higher. This indicated that H2-based enrichment did not result in photoautohydrogenotrophic specialists, suggesting that the reference species are more suitable for intensified biomass and protein production. On the other hand, the isolates were able to provide equally high protein quality profiles as the references species, providing full dietary essential amino acid matches for human food. Lastly, the effect of metabolic carbon/electron switching (back and forth between auto- to heterotrophic conditions) initially boosted µmax when returning to photoautohydrogenotrophic conditions. However, the switch negatively impacted lag phase, protein productivities and pigment contents. In the case of protein productivity, the acquired acclimation was partially lost with decreases of up to 44 % and 40 % respectively for isolates and reference species. Finally, the three reference species, and specifically Rh. capsulatus, remained the most suitable candidate(s) for further biotechnological development.

Harmonizing Full and Partial Matching in Geospatial Conflation: A Unified Optimization Model

Spatial data conflation is aimed at matching and merging objects in two datasets into a more comprehensive one. Starting from the “map assignment problem” in the 1980s, optimized conflation models treat feature matching as a natural optimization problem of minimizing certain metrics, such as the total discrepancy. One complication in optimized conflation is that heterogeneous datasets can represent geographic features differently. Features can correspond to target features in the other dataset either on a one-to-one basis (forming full matches) or on a many-to-one basis (forming partial matches). Traditional models consider either full matching or partial matches exclusively. This dichotomy has several issues. Firstly, full matching models are limited and cannot capture any partial match. Secondly, partial matching models treat full matches just as partial matches, and they are more prone to admit false matches. Thirdly, existing conflation models may introduce conflicting directional matches. This paper presents a new model that captures both full and partial matches simultaneously. This allows us to impose structural constraints differently on full/partial matches and enforce the consistency between directional matches. Experimental results show that the new model outperforms conventional optimized conflation models in terms of precision (89.2%), while achieving a similar recall (93.2%).

AbDiver: a tool to explore the natural antibody landscape to aid therapeutic design.

MotivationRational design of therapeutic antibodies can be improved by harnessing the natural sequence diversity of these molecules. Our understanding of the diversity of antibodies has recently been greatly facilitated through the deposition of hundreds of millions of human antibody sequences in next-generation sequencing (NGS) repositories. Contrasting a query therapeutic antibody sequence to naturally observed diversity in similar antibody sequences from NGS can provide a mutational roadmap for antibody engineers designing biotherapeutics. Because of the sheer scale of the antibody NGS datasets, performing queries across them is computationally challenging.ResultsTo facilitate harnessing antibody NGS data, we developed AbDiver (http://naturalantibody.com/abdiver), a free portal allowing users to compare their query sequences to those observed in the natural repertoires. AbDiver offers three antibody-specific use-cases: (i) compare a query antibody to positional variability statistics precomputed from multiple independent studies, (ii) retrieve close full variable sequence matches to a query antibody and (iii) retrieve CDR3 or clonotype matches to a query antibody. We applied our system to a set of 742 therapeutic antibodies, demonstrating that for each use-case our system can retrieve relevant results for most sequences. AbDiver facilitates the navigation of vast antibody mutation space for the purpose of rational therapeutic antibody design.Availability and implementationAbDiver is freely accessible at http://naturalantibody.com/abdiver.Supplementary information Supplementary data are available at Bioinformatics online.

The Effect of Squad Rotation on Physical Activity at the 2018 World Cup in Russia. Analysis the Most Exploited Players of the 4 Best Teams.

The purpose of this study was to examine how the four best teams in the 2018 Football Men's World Cup rotate by squad and how this impact the physical activity of the teams in consecutive rounds. The study sample consisted of the 31 players of the 4 best teams, who played in every tournament match, except for the third game of the group stage. The analysis included 186 observations and was carried out on the most exploited players (MEP) excluding goalkeepers, who played at least 450 mins (5 full matches) in the tournament. The analysis was conducted using data collected by an advanced motion analysis system known as STATS®. The selected physical activity parameters analyzed included: total distance covered (m/min), distance covered at various intensity ranges (m/min), top speed (km/h), and number of sprints performed. It was found that all four teams in the third match of the group stage have performed the largest number of rotations with most exploited players and introduced the highest number of rested players (7.75 ± 2.06). A significant increase was observed between the second and fourth match in the 0–7 km/h distance covered (37.99 ± 3.19–39.23 ± 3.35 m/min) and the top speed (28.12 ± 2.22–29.21 ± 2.64 km/h)—p < 0.05. Furthermore, MEPs in the knockout stage, used pacing strategies by increasing the amount of low-intensity running to maintain high intensity during the game. From a practical point of view, this investigation shows that squad rotation can be a valuable support to a pacing strategy by players.

One-stage bilateral versus unilateral short-stem total hip arthroplasty: A matched-pair analysis of 216 hips

BackgroundOne-stage, bilateral, short-stem total hip arthroplasty (1B-ssTHA) represents an alternative to staged, unilateral, short-stem total hip arthroplasty (U-ssTHA); however, the safety and reliability of 1B-ssTHA remain unknown. The objective of the present study was to compare the functional outcomes, complications, and mortality rates between 1B-ssTHA and U-ssTHA at mid-term. MethodsA retrospective, matched-pair study was performed, including 216 short stems implanted in 162 patients. Among the study population, 54 patients were treated with 1B-ssTHA. Patients were matched by gender, age, body mass index (BMI), and American Society of Anesthesiologists (ASA) classification. A total of 46 full matches could be accomplished. The mean follow-up time for the 1B-ssTHA group was 61.7 months (standard deviation [SD] 6.2 months), compared with was 63.4 months (SD 8.0 months) for the U-ssTHA group. Mortality, complication, and revision rates were documented. For clinical examinations, the visual analogue scale (VAS) was used to evaluate satisfaction, rest pain, and load pain, and the Harris Hip Score (HHS) was determined. ResultsNo surgery-related deaths were observed. At mid-term, none of the 1B-ssTHA patients required stem revision. The rate of complications for both groups was low. The mean drop in haemoglobin measured in the 1B-ssTHA group was 4.42 mg/dl, compared with 3.18 mg/dl in the U-ssTHA group. The mean HHS in the 1B-ssTHA group was 98.3 points (SD 2.80), whereas, in the U-ssTHA group, the mean HHS was 97.9 points (SD 3.44) (p = 0.478). Satisfaction rates were significantly higher in the 1B-ssTHA group (p = 0.04) than in the U-ssTHA group, whereas no significant differences were found for pain at rest and pain at load (p = 0.56 and p = 0.26, respectively). ConclusionOur findings indicate that 1B-ssTHA is an effective and beneficial procedure for a select population. Mortality, complications, implant survival, and clinical outcomes were comparable to those for a matched group with unilateral osteoarthritis treated with U-ssTHA. However, an increase in blood loss must be acknowledged for the 1B-ssTHA procedure.

Multimodal soccer highlight identification using a sparse subset of frames integrating long-term sliding windows

The massive growth of audiences eager for sport content has substantially increased workers’ demand in this profitable segment. Highlight identification is vital for summarizing football matches. Decision support tools can significantly reduce the number of company employees required to tackle such a task, widely benefiting workforce resource allocation. This paper discusses the development of an automatic football highlight detector. The proposed system exploits discriminative low-level audio and video features extracted from a compact set of irregularly time–spaced frames that integrate a long-term sliding window. A new mixed wrapper-probabilistic algorithm leverages a cost-effective selection of the most significant frames submitted to a robust multi-frame consensus classification scheme. By considering a comprehensive database integrating 30 full matches, the proposed approach achieves a highlight identification rate of 100% (including all annotated goals), conjugated with a match-time compression rate of about 94%, when employing a Random Forest classifier.

Microbial food from light, carbon dioxide and hydrogen gas: Kinetic, stoichiometric and nutritional potential of three purple bacteria

The urgency for a protein transition towards more sustainable solutions is one of the major societal challenges. Microbial protein is one of the alternative routes, in which land- and fossil-free production should be targeted. The photohydrogenotrophic growth of purple bacteria, which builds on the H2– and CO2-economy, is unexplored for its microbial protein potential. The three tested species (Rhodobacter capsulatus, Rhodobacter sphaeroides and Rhodopseudomonas palustris) obtained promising growth rates (2.3–2.7 d−1 at 28°C) and protein productivities (0.09–0.12 g protein L−1 d−1), rendering them likely faster and more productive than microalgae. The achieved protein yields (2.6–2.9 g protein g−1 H2) transcended the ones of aerobic hydrogen oxidizing bacteria. Furthermore, all species provided full dietary protein matches for humans and their fatty acid content was dominated by vaccenic acid (82–86%). Given its kinetic and nutritional performance we recommend to consider Rhodobacter capsulatus as a high-potential sustainable source of microbial food.

Comparison of Official and Friendly Matches through Acceleration, Deceleration and Metabolic Power Measures: A Full-Season Study in Professional Soccer Players.

Soccer is a popular team sport and highly demanding activity that requires high effort and long-term training plans. The goals of this study were to compare the accelerations, decelerations and metabolic power between official and friendly full matches, between the first and second halves of the matches, and between both halves of official and friendly matches. Twelve professional soccer players (age, 28.6 ± 2.7 years; height, 182.1 ± 8.6 cm; body mass, 75.3 ± 8.2 kg; BMI, 22.6 ± 0.7 kg/m2) participated in this study. A total of 33 official and 10 friendly matches were analyzed from the Iranian Premier League. All matches were monitored using GPSPORTS systems Pty Ltd. The following variables were selected: total duration of the matches, metabolic power, accelerations Zone1 (<2 m·s−2) (AccZ1), accelerations Zone2 (2 to 4 m·s−2) (AccZ2), accelerations Zone3 (>4 m·s−2) (AccZ3), decelerations Zone1 (<−2 m·s−2) (DecZ1), decelerations Zone2 (−2 to −4 m·s−2) (DecZ2) and decelerations Zone3 (>−4 m·s−2) (DecZ3). The major finding was shown in metabolic power, where higher values occurred in friendly matches (p < 0.05 with small effect size). Furthermore, total duration, AccZ3, DecZ1, DecZ2, and DecZ3 were revealed to be higher in official matches, while AccZ1 and AccZ2 were higher in friendly matches. The second half of the official matches revealed higher values for total duration compared to friendly matches (p < 0.05, moderate effect size). In conclusion, this study observed higher values of metabolic power in friendly matches compared to official matches. AccZ3, DecZ1, DecZ2, and DecZ3 were higher in official matches, while AccZ1 and AccZ2 were higher in friendly matches.

Alternative mRNA Processing of Innate Response Pathways in Respiratory Syncytial Virus (RSV) Infection.

The innate immune response (IIR) involves rapid genomic expression of protective interferons (IFNs) and inflammatory cytokines triggered by intracellular viral replication. Although the transcriptional control of the innate pathway is known in substantial detail, little is understood about the complexity of alternative splicing (AS) and alternative polyadenylation (APA) of mRNAs underlying the cellular IIR. In this study, we applied single-molecule, real-time (SMRT) sequencing with mRNA quantitation using short-read mRNA sequencing to characterize changes in mRNA processing in the epithelial response to respiratory syncytial virus (RSV) replication. Mock or RSV-infected human small-airway epithelial cells (hSAECs) were profiled using SMRT sequencing and the curated transcriptome analyzed by structural and quality annotation of novel transcript isoforms (SQANTI). We identified 113,082 unique isoforms; 28,561 represented full splice matches, and 45% of genes expressed six or greater AS mRNA isoforms. Identification of differentially expressed AS isoforms was accomplished by mapping a short-read RNA sequencing expression matrix to the curated transcriptome, and 905 transcripts underwent differential polyadenylation site analysis enriched in protein secretion, translation, and mRNA degradation. We focused on 355 genes showing differential isoform utilization (DIU), indicating where a new AS isoform becomes a major fraction of mRNA isoforms expressed. In pathway and network enrichment analyses, we observed that DIU transcripts are substantially enriched in cell cycle control and IIR pathways. Interestingly, the RelA/IRF7 innate regulators showed substantial DIU where major transcripts included distinct isoforms with exon occlusion, intron inclusion, and alternative transcription start site utilization. We validated the presence of RelA and IRF7 AS isoforms as well as their induction by RSV using eight isoform-specific RT-PCR assays. These isoforms were identified in both immortalized and primary small-airway epithelial cells. We concluded that the cell cycle and IIR are differentially spliced in response to RSV. These data indicate that substantial post-transcriptional complexity regulates the antiviral response.

Analysis of 16S rRNA gene variability in soil nitrifying bacteria of the genus Nitrosomonas

The main goal of the work was to assess variability of 16S rRNA gene sequence within the nitrifying bacterial genus Nitrosomonas to find specific sequences for its detection. To achieve it, we had to find and to assess sequences that are highly conservative on the level of the genus and to find and to assess sequences variable on the level of genus but conserved on the level of species. In the SILVA database of ribosomal RNA sequences, 231 sequences of 16S rRNAs of bacteria of the genus Nitrosomonas were collected, of which were sorted 132 sequences by length from 1400 to 1541 (full-sized gene) nucleotides. We conducted an analysis of the taxon-specificity of sequences conserved at the genus level. More than a hundred full matches were found by the BLAST program in the nr database with other genera of the same and other families. So, in Nitrosomonas 16S rRNA gene are present some highly conservative regions, but they are not genus-specific due to high coincidence with other genera. Wherein, a variable region 994-1041 is highly species-specific for the species N. eutropha. Generally, the sequence of 994-1041 region of Nitrosomonas 16S rRNA genes tends to be clustered, being very close between some species.

Etymological Notes about Balto-Slavic Hydronymy of the Historical Lands of Novgorod and Pskov (Vselug, Dolostso)

The author focuses on hydronyms of the Balto-Slavic type, or the names of water bodies that include lexical and structural components prominent in both Baltic and Slavic languages. The article presents two onomastic sketches containing a historical and etymological analysis of some lake names in the historical lands of Novgorod and Pskov republics. The first study gives an etymological interpretation of the name Vselug that refers to a large lake in the headwaters of the Volga to the west of Seliger. It is substantiated that the hydronym is a baltism with a compound base *Vis(i)-lank-, lit. ‘with all bends’ (characteristic of a lake with meandering shoreline) that naturally transformed into *Vьselukъ on the Slavic linguistic soil. The second sketch focuses on the lake names on Dolos-/Dolys-. Like Vselug, they do not have full structural matches in the appellative vocabulary, but unlike the isolated Vselug, they make up a large, distinctively compact and dense group. The paper provides exhaustive geographical, historical, and microsystem-toponymic information about the names constituting this group of hydronyms. Etymologically, the author assumes the development of the Dolos-/Dolys- stem from the Baltic *Dаlbs-, a deverbative formed with the suffix -s that resulted in Lithuanian del̃bti in the meaning of ‘cut obliquely, hewn, beat, strike’ and in proto-Slavic *delbti ‘gouge, pick.’ The base is interpreted as a dialectal neologism of the ancient Balts living in the sources of the Volga, the upper reaches of the Msta, Western Dvina, and Velikaya rivers. This archaic structure dates back to the early centuries AD or even earlier, the 1st millennium BC. Its very existence attests to a centuries-long presence of the Baltic linguo-ethnic element in the southwestern part of the historical lands of Novgorod and Pskov.

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

PurposeThe purpose of this study is to use a genotype-first approach to explore highly penetrant, autosomal dominant cardiovascular diseases with external features, the RASopathies and Marfan syndrome (MFS), using biobank data. MethodsThis study uses exome sequencing and corresponding phenotypic data from Mount Sinai’s BioMe (n = 32,344) and the United Kingdom Biobank (UKBB; n = 49,960). Variant curation identified pathogenic/likely pathogenic (P/LP) variants in RASopathy genes and FBN1. ResultsTwenty-one subjects harbored P/LP RASopathy variants; three (14%) were diagnosed, and another 46% had ≥1 classic Noonan syndrome (NS) feature. Major NS features (short stature [9.5% p = 7e-5] and heart anomalies [19%, p < 1e-5]) were less frequent than expected. Prevalence of hypothyroidism/autoimmune disorders was enriched compared with biobank populations (p = 0.007). For subjects with FBN1 P/LP variants, 14/41 (34%) had a MFS diagnosis or highly suggestive features. Five of 15 participants (33%) with echocardiographic data had aortic dilation, fewer than expected (p = 8e-6). Ectopia lentis affected only 15% (p < 1e-5). ConclusionsSubstantial fractions of individuals harboring P/LP variants with partial or full phenotypic matches to a RASopathy or MFS remain undiagnosed, some not meeting diagnostic criteria. Routine population genotyping would enable multidisciplinary care and avoid life-threatening events.