Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.

Genetic studies of the metabolome can uncover enzymatic and transport processes shaping human metabolism. Using rare variant aggregation testing based on whole-exome sequencing data to detect genes associated with levels of 1,294 plasma and 1,396 urine metabolites, we discovered 235 gene-metabolite associations, many previously unreported. Complementary approaches (genetic, computational (in silico gene knockouts in whole-body models of human metabolism) and one experimental proof of principle) provided orthogonal evidence that studies of rare, damaging variants in the heterozygous state permit inferences concordant with those from inborn errors of metabolism.

Clinical results of autologous fat transfer for basal thumb arthritis with a minimum of three years' follow-up.

Aims: In the treatment of basal thumb osteoarthritis (OA), intra-articular autologous fat transplantation has become of great interest within recent years as a minimally invasive and effective alternative to surgical intervention with regard to pain reduction. This study aims to assess its long-term effectiveness.

Methods: Patients diagnosed with stage one to three OA received a single intra-articular autologous fat transplantation.

European pollen reanalysis, 1980-2022, for alder, birch, and olive.

The dataset presents a 43 year-long reanalysis of pollen seasons for three major allergenic genera of trees in Europe: alder (Alnus), birch (Betula), and olive (Olea). Driven by the meteorological reanalysis ERA5, the atmospheric composition model SILAM predicted the flowering period and calculated the Europe-wide dispersion pattern of pollen for the years 1980-2022. The model applied an extended 4-dimensional variational data assimilation of in-situ observations of aerobiological networks in 34 European countries to reproduce the inter-annual variability and trends of pollen production and distribution.

Digitally-enabled, person-centred care (PCC) in allergen immunotherapy: An ARIA-EAACI Position Paper.

In rhinitis and asthma, several mHealth apps have been developed but only a few have been validated. However, these apps have a high potential for improving person-centred care (PCC), especially in allergen immunotherapy (AIT). They can provide support in AIT initiation by selecting the appropriate patient and allergen shared decision-making.

Global potential distribution of mangroves: Taking into account salt marsh interactions along latitudinal gradients.

Mangrove is one of the most productive and sensitive ecosystems in the world. Due to the complexity and specificity of mangrove habitat, the development of mangrove is regulated by several factors. Species distribution models (SDMs) are effective tools to identify the potential habitats for establishing and regenerating the ecosystem.

Driving forces of Antarctic krill abundance.

Antarctic krill, crucial to the Southern Ocean ecosystem and a vital fisheries resource, is endangered by climate change. Identifying drivers of krill biomass is therefore essential for determining catch limits and designating protection zones. We present a modeling approach to pinpointing effects of sea surface temperature, ice cover, chlorophyll levels, climate indices, and intraspecific competition.

Exploring the role of the self in disgust-related psychopathologies.

While clinical research on disgust relies on nonclinical research, the framework of disgust as an immune mechanism is not as central in clinical research. The immune framework for disgust may be integrated into clinical research by acknowledging the role of the self as the critical element protected by the immune system. In this review, we offer the premise that at the center of all disgust-related behaviors, thoughts, and cognitions is an attempt to protect the self (i.

Introduction to the special issue: How nonclinical psychology research can inform clinical perspectives on disgust.

Disgust is a universal emotion that significantly impacts human behavior and psychological well-being. While clinical psychology researchers made great strides in understanding disgust in the context of psychopathology, nonclinical researchers have contributed valuable insights that can inform clinical perspectives on disgust. This special issue aims to bring together the latest nonclinical research that can shed light on the nature, causes, and consequences of disgust-related psychopathology.

Plasticity and seasonality of the vertical migration behaviour of Antarctic krill using acoustic data from fishing vessels.

Understanding the vertical migration behaviour of Antarctic krill is important for understanding spatial distribution, ecophysiology, trophic interactions and carbon fluxes of this Southern Ocean key species. In this study, we analysed an eight-month continuous dataset recorded with an ES80 echosounder on board a commercial krill fishing vessel in the southwest Atlantic sector of the Southern Ocean. Our analysis supports the existing hypothesis that krill swarms migrate into deeper waters during winter but also reveals a high degree of variability in vertical migration behaviour within seasons, even at small spatial scales.

Co-exposure to highly allergenic airborne pollen and fungal spores in Europe.

The study is aimed at determining the potential spatiotemporal risk of the co-occurrence of airborne pollen and fungal spores high concentrations in different bio-climatic zones in Europe. Birch, grass, mugwort, ragweed, olive pollen and Alternaria and Cladosporium fungal spores were investigated at 16 sites in Europe, in 2005-2019. In Central and northern Europe, pollen and fungal spore seasons mainly overlap in June and July, while in South Europe, the highest pollen concentrations occur frequently outside of the spore seasons.

A temporally and spatially explicit, data-driven estimation of airborne ragweed pollen concentrations across Europe.

Ongoing and future climate change driven expansion of aeroallergen-producing plant species comprise a major human health problem across Europe and elsewhere. There is an urgent need to produce accurate, temporally dynamic maps at the continental level, especially in the context of climate uncertainty. This study aimed to restore missing daily ragweed pollen data sets for Europe, to produce phenological maps of ragweed pollen, resulting in the most complete and detailed high-resolution ragweed pollen concentration maps to date.

An intercomparison of models predicting growth of Antarctic krill (Euphausia superba): The importance of recognizing model specificity.

Antarctic krill (Euphausia superba) is a key species of the Southern Ocean, impacted by climate change and human exploitation. Understanding how these changes affect the distribution and abundance of krill is crucial for generating projections of change for Southern Ocean ecosystems. Krill growth is an important indicator of habitat suitability and a series of models have been developed and used to examine krill growth potential at different spatial and temporal scales.

Short-course subcutaneous treatment with PQ Grass strongly improves symptom and medication scores in grass allergy.

Background: A modified grass allergen subcutaneous immunotherapy (SCIT) product with MicroCrystalline Tyrosine and monophosphoryl lipid-A as an adjuvant system (Grass MATA MPL [PQ Grass]) is being developed as short-course treatment of grass-pollen allergic rhinitis (SAR) and/or rhinoconjunctivitis. We sought to evaluate the combined symptom and medication score (CSMS) of the optimized cumulative dose of 27,600 standardized units (SU) PQ Grass in a field setting prior to embarking on a pivotal Phase III trial.

Methods: In this exploratory, randomized, double-blind, placebo-controlled trial subjects were enrolled across 14 sites (Germany and the United States of America).

Effects of age on non-communicable disease risk factors among Nepalese adults.

The growing burden of non-communicable diseases (NCDs) and an increase in the prevalence of the underlying risk factors are creating a challenge to health systems in low- and middle-income countries (LMICs). In Nepal, deaths attributable to NCDs have been increasing, as has life expectancy. This poses questions with regards to how age and various risk factors interact in affecting NCDs.

On the Effective Dissemination and Use of Learning Objectives Catalogs for Health Information Curricula Development.

Catalogs of competency-based learning objectives (CLO) were introduced and promoted as a prerequisite for high-quality, systematic curriculum development. While this is common in medicine, the consistent use of CLO is not yet well established in epidemiology, biometry, medical informatics, biomedical informatics, and nursing informatics especially in Germany. This paper aims to identify underlying obstacles and give recommendations in order to promote the dissemination of CLO for curricular development in health data and information sciences.

[General Self-Efficacy Scale (GSE) in Simple Language: Internal Consistency, Standard Values and Correlations with Demographic Variables in a Representative German Sample].

Background: Approximately 6,2 million people with limited literacy live in Germany. They are unable to communicate in written language beyond single sentences and thus experience limited social participation in many everyday areas. In addition, they are also excluded from participation in survey-based social science research.

Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.

Biallelic variants in the ACADM gene cause medium-chain acyl-CoA dehydrogenase deficiency (MCADD). This study reports on differences in the occurrence of secondary free carnitine (C0) deficiency and different biochemical phenotypes related to genotype and age in 109 MCADD patients followed-up at a single tertiary care center during 22 years. C0 deficiency occurred earlier and more frequently in c.

Symptom control and health-related quality of life in allergic rhinitis with and without comorbid asthma: A multicentre European study.

Background: Allergic rhinitis (AR) is a major non-communicable disease that affects the health-related quality of life (HRQoL) of patients. However, data on HRQoL and symptom control in AR patients with comorbid asthma (AR + asthma) are lacking.

Methods: In this multicentre, cross-sectional study, patients with AR were screened and administered questionnaires of demographic characteristics and health conditions (symptoms/diagnosis of AR and asthma, disease severity level, and allergic conditions).