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The Estonian Biobank’s journey from biobanking to personalized medicine
Abstract Large biobanks have set a new standard for research and innovation in human genomics and implementation of personalized medicine. The Estonian Biobank was founded a quarter of a century ago, and its biological specimens, clinical, health, omics, and lifestyle data have been included in over 800 publications to date. What makes the biobank unique internationally is its translational focus, with active efforts to conduct clinical studies based on genetic findings, and to explore the effects of return of results on participants. In this review, we provide an overview of the Estonian Biobank, highlight its strengths for studying the effects of genetic variation and quantitative phenotypes on health-related traits, development of methods and frameworks for bringing genomics into the clinic, and its role as a driving force for implementing personalized medicine on a national level and beyond.
Integration of high strength, flexibility, and room-temperature plasticity in ceramic nanofibers
A comparative study of deterministic and stochastic computational modeling approaches for analyzing and optimizing COVID-19 control
A bifunctional snoRNA with separable activities in guiding rRNA 2’-O-methylation and scaffolding gametogenesis effectors
Abstract Small nucleolar RNAs are non-coding transcripts that guide chemical modifications of RNA substrates and modulate gene expression at the epigenetic and post-transcriptional levels. However, the extent of their regulatory potential and the underlying molecular mechanisms remain poorly understood. Here, we identify a conserved, previously unannotated intronic C/D-box snoRNA, termed snR107 , hosted in the fission yeast long non-coding RNA mamRNA and carrying two independent cellular functions. On the one hand, snR107 guides site-specific 25S rRNA 2’-O-methylation and promotes pre-rRNA processing and 60S subunit biogenesis. On the other hand, snR107 associates with the gametogenic RNA-binding proteins Mmi1 and Mei2, mediating their reciprocal inhibition and restricting meiotic gene expression during sexual differentiation. Both functions require distinct cis -motifs within snR107 , including a conserved 2’-O-methylation guiding sequence. Together, our results position snR107 as a dual regulator of rRNA modification and gametogenesis effectors, expanding our vision on the non-canonical functions exerted by snoRNAs in cell fate decisions.
A cross-sectional study of public knowledge and stigma towards autism spectrum disorder in Lebanon
scRNA-seq uncovers the transcriptional dynamics of Encephalitozoon intestinalis parasites in human macrophages
Sex-specific aspects in a population of patients undergoing evaluation for interstitial lung disease with transbronchial cryobiopsy
Abstract There are well-documented differences in idiopathic pulmonary fibrosis (IPF) between sexes. The sex-specific prevalence of interstitial lung disease (ILD) subtypes in patients who require a full diagnostic work-up, including transbronchial cryobiopsy (TCB), after initial multidisciplinary discussion (MDD) is still unknown. Retrospective analysis of sex dispareties in patients with ILD who received an interdisciplinary indication for lung biopsy and underwent bronchoalveolar lavage, TCB and, if necessary, surgical lung biopsy at our ILD centre in Heidelberg between 11/17 and 12/21. The analysis included clinical parameters, visual assessment of computed tomography (CT), automated histogram analyses of lung density by validated software and final MDD-ILD classifications. A total of 402 patients (248 men, 154 women; mean age 68 ± 12 years) were analysed. Smoking behaviour was similar between the sexes, but women were more exposed to environmental factors, whereas men were more exposed to occupational factors. Women had higher rates of thyroid disease (29.9% vs. 12.5%; p < 0.001) and extrathoracic malignancies (16.2% vs. 9.3%; p = 0.041), but lower rates of coronary heart disease (7.1% vs. 19.8%; p < 0.001), stroke (1.3% vs. 6.5%; p = 0.014) and sleep apnoea (5.8% vs. 17.7%; p < 0.001). There were no sex differences regarding CT lung density. On visual inspection, women were less likely to have reticular opacities (65% vs. 76%; p = 0.017) and features of usual interstitial pneumonia (17% vs. 34%; p < 0.001). Among final diagnoses, hypersensitivity pneumonitis was more common in women (34.4%) compared to men (21.8%; p = 0.007). In contrast, IPF was more common in men (22.6%) than in women (7.1%; p < 0.001), and unclassifiable interstitial lung disease was also more frequent in men (21.8%) compared to women (6.5%; p < 0.001). This study highlights significant sex-based differences in the prevalence and characteristics of ILD requiring comprehensive diagnostic work-up. These findings underscore the importance of considering sex-specific factors in the diagnosis and management of ILD.
Origin of yield stress and mechanical plasticity in model biological tissues
Short-term outcomes comparison of KangDuo 2.0 and Da Vinci Xi in radical cystectomy
All-site alloyed perovskite for efficient and bright blue light-emitting diodes
Beyond HAART: unveiling the reality of antiretroviral therapy knowledge among pregnant women living with HIV in Kaduna State, Nigeria
Big data show idiosyncratic patterns and rates of geomorphic river mobility
Abstract Big data present unprecedented opportunities to test long-standing theories regarding patterns and rates of geomorphic river adjustments. Here, we use locational probabilities derived from Landsat imagery (1988-2019) to quantify the dynamics of 600 km2 of riverbed in 10 Philippine catchments. Analysis of lateral adjustments reveals spatially non-uniform variability in along-valley patterns of geomorphic river mobility, with zones of relative stability interspersed with zones of relative instability. Hotspots of mobility vary in magnitude, size and location between catchments. We could not identify monotonic relationships between local factors (active channel width, valley floor width and confinement ratio) and mobility. No relation between the channel pattern type and rates of adjustment was evident. We contend that satellite-derived locational probabilities provide a spatially continuous dynamic metric that can help unravel and contextualise forms and rates of geomorphic river adjustment, thereby helping to derive insights into idiosyncrasies of river behaviour in dynamic landscapes.
Comparative analysis of stereotactic aspiration via supraorbital keyhole versus Kocher’s point for basal ganglia intracerebral hematoma: computational simulation and propensity score-matched study
A comparison of income inequality in the Roman and Chinese Han empires
Time-warping analysis for biological signals: methodology and application
Abstract Any set of biological signals has variability, both in the temporal and spatial domains. To extract characteristic features of the ensemble, these spatiotemporal profiles are typically summarized by their mean and variance, often requiring prior padding or resampling of the data to equalize signal length. Such compression can conceal essential information in the signal. This work presents the method of time-warping, reformulated as elastic functional data analysis (EFDA), in an accessible way. This powerful approach rescales the temporal evolution of signals, aligns them accurately, decouples their spatial and temporal variability, and faithfully extracts their characteristics. This technique was compared to conventional methods of normalizing or padding data followed by averaging, using synthetized signals with controlled variability and real human data from a complex manipulation task. Comparative analysis demonstrates that EFDA successfully reveals otherwise concealed features and teases apart temporal and spatial variability. Critical advances to the more common method of dynamic time-warping (DTW) are discussed. Application of EFDA and potential new insights are illustrated in the context of human motor neuroscience. Annotated code to facilitate the use of this technique is provided.
Disorder-driven sintering-free garnet-type solid electrolytes
Explainable artificial intelligence to diagnose early Parkinson’s disease via voice analysis
A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification
Abstract Studying ciliary genes in the context of the human central nervous system is crucial for understanding the underlying causes of neurodevelopmental ciliopathies. Here, we use pluripotent stem cell-derived spinal organoids to reveal distinct functions of the ciliopathy gene RPGRIP1L in humans and mice, and uncover an unexplored role for cilia in human axial patterning. Previous research has emphasized Rpgrip1l critical functions in mouse brain and spinal cord development through the regulation of SHH/GLI pathway. Here, we show that RPGRIP1L is not required for SHH activation or motoneuron lineage commitment in human spinal progenitors and that this feature is shared by another ciliopathy gene, TMEM67 . Furthermore, human RPGRIP1L -mutant motoneurons adopt hindbrain and cervical identities instead of caudal brachial identity. Temporal transcriptome analysis reveals that this antero-posterior patterning defect originates in early axial progenitors and correlates with cilia loss. These findings provide important insights into the role of cilia in human neural development.