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The population numbers of taiga bean goose (Anser fabalis fabalis) have halved during recent decades. Since this subspecies is hunted throughout most of its range, the decline is of management concern. Knowledge of the genetic population structure and diversity is important for guiding management and conservation efforts. Genetically unique subpopulations might be hunted to extinction if not managed separately, and any inbreeding depression or lack of genetic diversity may affect the ability to adapt to changing environments and increase extinction risk. We used microsatellite and mitochondrial DNA markers to study the genetic population structure and diversity among taiga bean geese breeding within the Central flyway management unit using non-invasively collected feathers. We found some genetic structuring with the maternally inherited mitochondrial DNA between four geographic regions (ɸST = 0.11–0.20) but none with the nuclear microsatellite markers (all pairwise FST-values = 0.002–0.005). These results could be explained by female natal philopatry and male-biased dispersal, which completely homogenizes the nuclear genome. Therefore, the population could be managed as a single unit. Genetic diversity was still at a moderate level (average HE = 0.69) and there were no signs of past population size reductions, although significantly positive inbreeding coefficients in all sampling sites (FIS = 0.05–0.10) and high relatedness values (r = 0.60–0.86) between some individuals could indicate inbreeding. In addition, there was evidence of either incomplete lineage sorting or introgression from the pink-footed goose (Anser brachyrhynchus). The current population is not under threat by genetic impoverishment but monitoring in the future is desirable.

Objectives: The Pre-school Osteoarticular Infection (POI) study aimed to describe the burden of disease, epidemiology, microbiology and treatment of acute osteoarticular infections (OAI) and the role of Kingella kingae in these infections. Method(s): Information about children 3-60 months of age who were hospitalized with an OAI to 11 different hospitals across Australia and New Zealand between January 2012 and December 2016 was collected retrospectively. Result(s): A total of 907 cases (73%) were included. Blood cultures grew a likely pathogen in only 18% (140/781). The peak age of presentation was 12 to 24 months (466/907, 51%) and Kingella kingae was the most frequently detected microorganism in this age group (60/466, 13%). In the majority of cases, no microorganism was detected (517/907, 57%). Addition of PCR to culture increased detection rates of K. kingae. However, PCR was performed infrequently (63/907, 7%). Conclusion(s): This large multi-national study highlights the need for more widespread use of molecular diagnostic techniques for accurate microbiological diagnosis of OAI in pre-school aged children. The data from this study supports the hypothesis that a substantial proportion of pre-school aged children with OAI and no organism identified may in fact have undiagnosed K. kingae infection. Improved detection of Kingella cases is likely to reduce the average length of antimicrobial treatment.Copyright © 2021

AIMS: The 12-lead electrocardiogram (ECG) is routinely performed in children with hypertrophic cardiomyopathy (HCM). An ECG risk score has been suggested as a useful tool for risk stratification, but this has not been independently validated. This aim of this study was to describe the ECG phenotype of childhood HCM in a large, international, multi-centre cohort and investigate its role in risk prediction for arrhythmic events. METHODS AND RESULTS: Data from 356 childhood HCM patients with a mean age of 10.1 years (±4.5) were collected from a retrospective, multi-centre international cohort. Three hundred and forty-seven (97.5%) patients had ECG abnormalities at baseline, most commonly repolarization abnormalities (n = 277, 77.8%); left ventricular hypertrophy (n = 240, 67.7%); abnormal QRS axis (n = 126, 35.4%); or QT prolongation (n = 131, 36.8%). Over a median follow-up of 3.9 years (interquartile range 2.0-7.7), 25 (7%) had an arrhythmic event, with an overall annual event rate of 1.38 (95% CI 0.93-2.04). No ECG variables were associated with 5-year arrhythmic event on univariable or multivariable analysis. The ECG risk score threshold of >5 had modest discriminatory ability [C-index 0.60 (95% CI 0.484-0.715)], with corresponding negative and positive predictive values of 96.7% and 6.7. CONCLUSION: In a large, international, multi-centre cohort of childhood HCM, ECG abnormalities were common and varied. No ECG characteristic, either in isolation or combined in the previously described ECG risk score, was associated with 5-year sudden cardiac death risk. This suggests that the role of baseline ECG phenotype in improving risk stratification in childhood HCM is limited.

Human actions are currently threatening the persistence of many species. Loss of genetic diversity and inbreeding can reduce evolutionary potential of species and may even lead to their extinction. Thus, genetic issues should be taken into account in conservation and management of wild and domestic species. In this thesis, I have studied evolutionary and conservation genetics of the taiga bean goose (Anser fabalis fabalis) and the European domestic goose, derived from the greylag goose (A. anser). The taiga bean goose, a subspecies of the bean goose, is of conservation concern as the population numbers have halved during the recent decades. Due to debated taxonomy of the bean goose, I studied the genomic differentiation between the taiga bean goose and another European subspecies, the tundra bean goose (A. f. rossicus). A subspecies status was verified for these taxa, due to low genome-wide differentiation and extensive gene flow between the subspecies. I also studied genetic structure within breeding taiga bean geese in Finland, but no structure was evident. Genetic diversity was at a moderate level, but signs of inbreeding and gene flow with pink-footed goose (A. brachyrhynchus) were discovered. I also studied subspecies composition of the bean goose hunting bag in Finland and found that about half of the hunting bag consisted of the taiga bean goose. Hunting of the tundra bean goose was concentrated in south-eastern Finland. Thus, by geographically limiting the hunting area, the declining taiga bean goose can be relieved from hunting pressure. I also studied over a thousand years of evolutionary history of the European domestic goose in Russia using ancient DNA extracted from archaeological bones. Three evolutionary lineages were discovered: domestic geese, eastern domestic/wild greylag geese and taiga bean geese. The taiga bean geese were present probably due to misidentification of bones in fragmented archaeological material. Undoubted domesticated gee, Tiivistelmä Ihmistoiminta uhkaa monien lajien säilymistä. Geneettisen muuntelun vähäisyys ja sukusiitos voivat heikentää lajien evolutiivista potentiaalia ja johtaa jopa sukupuuttoon. Geneettiset näkökohdat tulisi siksi huomioida sekä villien että kesyjen lajien kannanhoidossa ja suojelussa. Tässä väitöskirjassa tutkin taigametsähanhen (Anser fabalis fabalis) ja merihanhesta (A. anser) polveutuneen eurooppalaisen kesyhanhen evoluutio- ja luonnonsuojelugenetiikkaa. Taigametsähanhi on yksi metsähanhen alalajeista. Sen populaatiokoko on puolittunut viime vuosikymmeninä, joten se on erityisesti suojelun tarpeessa. Metsähanhen taksonomiasta on ollut pitkään ristiriitaisia käsityksiä, joita selvittääkseni tutkin genomisen erilaistumisen määrää taigametsähanhen ja toisen eurooppalaisen alalajin, tundrametsähanhen (A. f. rossicus) välillä. Genomien erilaistumisen vähäisyys ja runsas geenivirta viittaa siihen, että nämä taksonit ovat saman lajin eri alalajeja. Tutkin myös Suomessa pesivien taigametsähanhien geneettistä rakennetta, mutta sitä ei löydetty. Geneettisen muuntelun määrä oli kohtuullisen suurta, mutta havaitsin viitteitä sukusiitoksesta. Lisäksi löysin merkkejä geenivirrasta lyhytnokkahanhen (A. brachyrhynchus) ja metsähanhen välillä. Tutkin myös Suomen metsähanhisaaliin alalajijakaumaa ja havaitsin, että noin puolet saaliista koostui taigametsähanhesta ja puolet tundrametsähanhesta. Tundrametsähanhen pyynti kohdistui Kaakkois-Suomeen, joten metsästysalueen rajaamisella sinne voidaan taantuva taigametsähanhi säästää metsästyspaineelta. Lisäksi tutkin eurooppalaisen kesyhanhen evolutiivista historiaa yli 1000 vuoden ajalta venäläisistä arkeologisista luista eristetyn muinais-DNA:n avulla. Löysin niistä kolme evolutiivista linjaa, jotka muodostuivat kesyhanhista, itäisistä kesy/merihanhista ja taigametsähanhista. Taigametsähanhilinjan löytyminen näytteistä johtuu luultavasti lajintunnistuksen hankaluudesta pirstaleisessa arkeologisessa luuaineistossa, mistä johtuen