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The great tit HapMap project: A continental-scale analysis of genomic variation in a songbird.
Get PDFA major aim of evolutionary biology is to understand why patterns of genomic diversity vary within taxa and space. Large-scale genomic studies of widespread species are useful for studying how environment and demography shape patterns of genomic divergence. Here, we describe one of the most geographically comprehensive surveys of genomic variation in a wild vertebrate to date; the great tit (Parus major) HapMap project. We screened ca 500,000 SNP markers across 647 individuals from 29 populations, spanning ~30 degrees of latitude and 40 degrees of longitude - almost the entire geographical range of the European subspecies. Genome-wide variation was consistent with a recent colonisation across Europe from a South-East European refugium, with bottlenecks and reduced genetic diversity in island populations. Differentiation across the genome was highly heterogeneous, with clear 'islands of differentiation', even among populations with very low levels of genome-wide differentiation. Low local recombination rates were a strong predictor of high local genomic differentiation (FST), especially in island and peripheral mainland populations, suggesting that the interplay between genetic drift and recombination causes highly heterogeneous differentiation landscapes. We also detected genomic outlier regions that were confined to one or more peripheral great tit populations, probably as a result of recent directional selection at the species' range edges. Haplotype-based measures of selection were related to recombination rate, albeit less strongly, and highlighted population-specific sweeps that likely resulted from positive selection. Our study highlights how comprehensive screens of genomic variation in wild organisms can provide unique insights into spatio-temporal evolutionary dynamics
Case report: C1/2 rotational instability progressing to extreme subaxial hyperkyphosis in an adolescent with severe catatonia.
Get PDFINTRODUCTION
Autism spectrum disorder (ASD) is characterized by deficits in social communication, repetitive behaviors, and can be accompanied by a spectrum of psychiatric symptoms, such as schizophrenia and catatonia. Rarely, these symptoms, if left untreated, can result in spinal deformities.
RESEARCH QUESTION AND CASE DESCRIPTION
This case report details the treatment of a 16-year-old male ASD patient with catatonic schizophrenia and mutism, presenting with neck pain, left-rotated torticollis, and fever. MRI revealed atlantoaxial rotational instability and spinal cord compression from a dislocated dens axis. After inconclusive biopsies, empirical antibiotics, hard collar and halo fixation treatment, persistent instability necessitated C1/2 fusion. The ongoing catatonia was addressed with electroconvulsive therapy. Concurrently, he developed severe subaxial hyperkyphosis. The report examines the decision-making between conservative and surgical management for an adolescent with significant psychiatric comorbidity and progressive spinal symptoms against a backdrop of uncertain etiology.
MATERIALS AND METHODS
A case report and review of the literature.
RESULTS
Posterior C1-C7 stabilization was successfully executed, effectively restoring cervical sagittal alignment, which was maintained throughout a two-year follow-up. Concurrently, the catatonia resolved.
DISCUSSION AND CONCLUSION
To our knowledge, this is the third reported case of severe cervical deformity associated with fixed posture in a psychiatric patient. This case report emphasizes the critical importance of multidisciplinary collaboration in managing the interplay between neuropsychiatric disorders and severe spinal deformities. It showcases the practicality and efficacy of surgical intervention for persistent cervical deformity in pediatric schizophrenia patients, highlighting the necessity for a comprehensive risk-benefit analysis
Semilinear idempotent distributive ℓ-monoids
Get PDFWe prove a representation theorem for totally ordered idempotent monoids via a nested sum construction. Using this representation theorem we obtain a characterization of the subdirectly irreducible members of the variety of semilinear idempotent distributive ℓ-monoids and a proof that its lattice of subvarieties is countably infinite. For the variety of commutative idempotent distributive ℓ-monoids we give an explicit description of its lattice of subvarieties and show that each of its subvarieties is finitely axiomatized. Finally we give a characterization of which spans of totally ordered idempotent monoids have an amalgam in the class of totally ordered monoids, showing in particular that the class of totally ordered commutative idempotent monoids has the strong amalgamation property and that various classes of distributive ℓ-monoids do not have the amalgamation property. We also show that exactly seven non-trivial finitely generated subvarieties of the variety of semilinear idempotent distributive ℓ-monoids have the amalgamation property; we are able to determine for all but three of its subvarieties whether they have the amalgamation property or not
Financial Cryptography and Data Security - 27th International Conference, FC 2023, Bol, Brač, Croatia, May 1-5, 2023, Revised Selected Papers
No full textDWI scrolling artery sign for the diagnosis of giant cell arteritis: a pattern recognition approach.
Get PDFOBJECTIVES
To investigate the diagnostic accuracy of a pattern recognition approach for the evaluation of MRI scans of the head with diffusion-weighted imaging (DWI) in suspected giant cell arteritis (GCA).
METHODS
Retrospectively, 156 patients with suspected GCA were included. The 'DWI-Scrolling-Artery-Sign' (DSAS) was defined as hyperintense DWI signals in the cranial subcutaneous tissue that gives the impression of a blood vessel when scrolling through a stack of images. The DSAS was rated by experts and a novice in four regions (frontotemporal and occipital, bilaterally). The temporal, occipital and posterior auricular arteries were assessed in the T1-weighted black-blood sequence (T1-BB). The diagnostic reference was the clinical diagnosis after ≥6 months of follow-up.
RESULTS
The population consisted of 87 patients with and 69 without GCA; median age was 71 years and 59% were women. The DSAS showed a sensitivity of 73.6% and specificity of 94.2% (experts) and 59.8% and 95.7% (novice), respectively. Agreement between DSAS and T1-BB was 80% for the region level (499/624; kappa(κ)=0.59) and 86.5% for the patient level (135/156; κ=0.73). Inter-reader agreement was 95% (19/20; κ=0.90) for DSAS on the patient level and 91.3% (73/80; κ=0.81) on the region level for experts. For expert versus novice, inter-reader agreement for DSAS was 87.8% on the patient level (137/156; κ=0.75) and 91.2% on the region level (569/624; κ=0.77).
CONCLUSIONS
The DSAS can be assessed in less than 1 min and has a good diagnostic accuracy and reliability for the diagnosis of GCA. The DSAS can be used immediately in clinical practice
Pneumocystis jirovecii pneumonia in paediatric acute lymphoblastic leukaemia: A report from the multi-international clinical trial AIEOP-BFM ALL 2009.
Get PDFPneumocystis jirovecii can cause life-threatening pneumonia (PjP), and patients with haematological malignancies are at high risk of this infection. Prophylactic measures have significantly decreased morbidity and mortality, but there is a paucity of contemporary data on the incidence and clinical course of PjP in well-defined and homogenous patient populations, such as children suffering from acute lymphoblastic leukaemia (ALL). In the multi-international trial AIEOP-BFM ALL2009, PjP was diagnosed in six children (incidence 1/1000) and was associated with insufficient prophylaxis in five of them. Although none of the patients died of PjP, the long-term impact of the infection is unclear
Eine Gefahr für die neurologische Versorgung
Get PDFHöchstzahlenverordnung
Die Kantone können einen Zulassungsstopp für neue Ärztinnen und Ärzte verhängen, wenn in einem Fachgebiet die definierte Höchstzahl erreicht ist. Für die Neurologie liegt der aktuelle Versorgungsgrad von 100% jedoch deutlich unter dem Bedarf. Eine sich daran orientierende Höchstzahlenbegrenzung führt zu einem bedrohlichen Fachkräftemangel
Health of singleton neonates in Switzerland through time and crises: a cross-sectional study at the population level, 2007-2022.
Get PDFBACKGROUND
Being exposed to crises during pregnancy can affect maternal health through stress exposure, which can in return impact neonatal health. We investigated temporal trends in neonatal outcomes in Switzerland between 2007 and 2022 and their variations depending on exposure to the economic crisis of 2008, the flu pandemic of 2009, heatwaves (2015 and 2018) and the COVID-19 pandemic.
METHODS
Using individual cross-sectional data encompassing all births occurring in Switzerland at the monthly level (2007-2022), we analysed changes in birth weight and in the rates of preterm birth (PTB) and stillbirth through time with generalized additive models. We assessed whether the intensity or length of crisis exposure was associated with variations in these outcomes. Furthermore, we explored effects of exposure depending on trimesters of pregnancy.
RESULTS
Over 1.2 million singleton births were included in our analyses. While birth weight and the rate of stillbirth have remained stable since 2007, the rate of PTB has declined by one percentage point. Exposure to the crises led to different results, but effect sizes were overall small. Exposure to COVID-19, irrespective of the pregnancy trimester, was associated with a higher birth weight (+12 grams [95% confidence interval (CI) 5.5 to 17.9 grams]). Being exposed to COVID-19 during the last trimester was associated with an increased risk of stillbirth (odds ratio 1.24 [95%CI 1.02 to 1.50]). Exposure to the 2008 economic crisis during pregnancy was not associated with any changes in neonatal health outcomes, while heatwave effect was difficult to interpret.
CONCLUSION
Overall, maternal and neonatal health demonstrated resilience to the economic crisis and to the COVID-19 pandemic in a high-income country like Switzerland. However, the effect of exposure to the COVID-19 pandemic is dual, and the negative impact of maternal infection on pregnancy is well-documented. Stress exposure and economic constraint may also have had adverse effects among the most vulnerable subgroups of Switzerland. To investigate better the impact of heatwave exposure on neonatal health, weekly or daily-level data is needed, instead of monthly-level data
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