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Protein deletions are frequent among both natural and pathogenic variations. Many of them are misclassified in variation databases and the literature. Nonsense-mediated decay prevents the expression of many nucleotide deletions. Many variants classified as protein deletions are not expressed at all. We conducted an exhaustive systematic analysis of three types of deletions: N- and C-terminal delet
Background: Although optical coherence tomography (OCT) has become essential in pediatric ophthalmology, normative data for children are lacking in most device databases. Due to ongoing ocular growth and developmental changes that occur during childhood and adolescence, adult reference values are not appropriate for pediatric use. Additionally, OCT measurements vary across devices, indicating the
In this paper, a new Monte Carlo Glauber model is developed for pA collisions. It uses the hadronic cross sections calculated within the KMR model as implemented in the SHRiMPS minimum bias module of the SHERPA event generator. These cross sections are obtained as functions of impact parameter and, therefore, are ready for use in a Glauber model without additional assumptions regarding their impac
BackgroundWhile physical activity is known to affect the risk of MAFLD in adults, evidence in adolescents is limited and often based on self-reported questionnaires. We therefore used wearable device–based measurements to investigate the association between physical activity and MAFLD in adolescents.MethodsData were obtained from the National Health and Nutrition Examination Survey (NHANES) databa
The Amazonian Craton is host to one of Earth’s largest Proterozoic silicic large igneous provinces (SLIPs), the Orocaima SLIP (ca. 1.98 Ga). Nevertheless, the mechanism(s) responsible for this large-flux felsic magmatic event and its relationships with regional tectonics and/or mantle processes remain debated. New geochronologic and geochemical results from multiple mafic dike swarms in the Amazon
The consideration of patient experiences has gained significant attention in recent years as part of the broader shift toward patient-centered care. The aim of this chapter is to explore the personal experiences of individuals before and after lung transplantation, highlighting how these experiences are deeply embedded within a network of family and social connections. This chapter emphasizes the
This chapter introduces systematic reviews and provides a summary of systematic review methods. Because of the challenges in palliative care trials, systematic reviews might be even more relevant in palliative care than in many other areas of health care. This chapter highlights the reasons why a researcher should use a systematic review, as well as the instances when systematic reviews are not an
Domain-specific languages are used in numerous problem domains, e.g. database handling, robot programming and numerical calculations. The main advantage of using such languages is the ease with which a problem within the domain can be expressed in the language. The resulting programs are easier to debug and maintain, and consist of higher quality code since the language constructs are close to the
Drawing on actor-network theory and theories of performance, this article discusses gift-giving as an expansive form of materializing relationships and delimiting boundaries between nations, regions, organizations and individuals in the wake of migration. Initially, I discuss gift-giving as a way of materializing relationships and building networks. Thereafter, I map out the social life of the Vär
Deep metabarcoding offers an efficient and reproducible approach to biodiversity monitoring, but noisy data and incomplete reference databases challenge accurate diversity estimation and taxonomic annotation. Here, we introduce a novel algorithm, NEEAT, for removing spurious operational taxonomic units (OTUs) originating from nuclear-embedded mitochondrial DNA sequences (NUMTs) or sequencing error
Scale invariance is a ubiquitous observation in the dynamics of large distributed complex systems. The computation of its scaling exponents, which provide clues on its origin, is often hampered by the limited available sampling data, making an appropriate mathematical description a challenge. This work investigates the behavior of correlation functions in fractal systems under conditions of severe
This commentary discusses the role of increasingly artificial intelligence-infused big tech platforms in facilitating and normalising high-emission lifestyles and consumption practices. It introduces the notion of algorithmically facilitated emissions to initiate a shift from a logic of ‘climate collapse by design’ to a logic of ‘emissions reduction by design’. Reducing consumption-based emissions
Background Long-term pathological breathlessness is a life-limiting symptom that risks taking control of the individual’s life. We aimed to evaluate how locus of control (LOC), an individual’s perceived control of present and past life events, relates to breathlessness in a middle-aged general population. Methods A population-based, cross-sectional analysis of people aged 50–64 years was conducted
Background: Evidence-based guidelines for assessing pituitary function in children remain limited. Improved understanding of paediatric pituitary diseases may improve clinical management and patient counselling.Aim: This thesis aimed to evaluate diagnostic aspects of paediatric pituitary diseases, focusing on radiological follow-up of pituitary microadenomas and cysts, pituitary refractoriness to
It is a continued open question how there can be an azimuthal anisotropy of high particles quantified by a sizable in p+Pb collisions when, at the same time, the nuclear modification factor is consistent with unity. We address this puzzle within the framework of the jet quenching model \textsc{Jewel}. In the absence of reliable medium models for small collision systems we use the number of scatter
Aims: In the randomized DAPA-MI clinical trial, 10 mg of dapagliflozin once daily improved cardiometabolic outcomes versus placebo after acute myocardial infarction (MI) in patients without established diabetes or heart failure (HF). We assessed associations between baseline left ventricular ejection fraction (LVEF) and cardiometabolic outcomes in DAPA-MI. Methods: The primary outcome, assessed us
