41,595 results match your criteria: "and Berlin Institute of Health; Berlin Institute of Health BIH[Affiliation]"

iKNOW-Supporting the counseling of women with hereditary risk of breast and ovarian cancer with digital technologies: A randomized controlled trial.

Genet Med Open

September 2024

Gender in Medicine, Charité-Universitätsmedizin Berlin, Germany Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

Purpose: We developed the online-based counseling tool iKNOW for women with a pathogenic germline variant in to improve risk understanding and quality of life.

Methods: With a randomized controlled trial, we investigated the efficacy of iKNOW with regard to risk understanding (primary endpoint), quality of life, risk perception, and anxiety (secondary endpoints). Self-report questionnaires were administered to  = 217 women with a pathogenic variant in before counseling (T0), immediately after (T1), 4 weeks after (T2), and 6 months after (T3).

View Article and Find Full Text PDF

Food Contact Materials (FCMs), such as plastics, papers, ceramics and inks used in food packaging, containers, kitchen utensils and tableware are subject to scrutiny due to their potential to release toxic compounds into food. In the European Union, materials and articles intended for contact with food must adhere to stringent safety regulations and novel materials not explicitly covered by existing legislation require individual risk assessment. This project focused on the assessment of the genotoxic potential of two substances used in FCMs, specifically neodecanoic acid (NDA) and di(2-ethylhexyl) phthalate (DEHP), for which data gaps have been identified in genotoxicity studies.

View Article and Find Full Text PDF

Unlabelled: Data-driven strategies have been widely used to distinguish experimental effects on single-trial EEG signals. However, how latency variability, such as within-condition jitter or latency shifts between conditions, affects the performance of EEG classifiers has not been well investigated. Without explicitly considering and disentangling such attributes of single trials, neural network-based classifiers have limitations in measuring their contributions.

View Article and Find Full Text PDF

Dominant negative mutations cause ADA2 deficiency in heterozygous carriers.

medRxiv

December 2024

Laboratory Inborn errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.

Human ADA2 deficiency (DADA2) is an inborn error of immunity with a broad clinical phenotype which encompasses vasculopathy including livedo racemosa and lacunar strokes, as well as hemato-immunological features. Diagnosis is based on the combination of decreased serum ADA2 activity and the identification of biallelic deleterious alleles in the gene. DADA2 carriers harbor a single pathogenic variant in and are mostly considered healthy and asymptomatic.

View Article and Find Full Text PDF

Recent advancements in Parkinson's disease (PD) drug development have been significantly driven by genetic research. Importantly, drugs supported by genetic evidence are more likely to be approved. While genome-wide association studies (GWAS) are a powerful tool to nominate genomic regions associated with certain traits or diseases, pinpointing the causal biologically relevant gene is often challenging.

View Article and Find Full Text PDF

Aminopeptidase-Responsive NIR Photosensitizer for Precision Targeting and Eradication of Biofilms.

ACS Appl Mater Interfaces

December 2024

State Key Laboratory of Bioactive Substance and Function of Natural Medicines, Institute of Materia Medica, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100050, China.

The emergence of resistance in represents a significant global health challenge, particularly due to the hurdle of effectively penetrating biofilms with antimicrobials. Moreover, the rise of antibiotic-resistant pathogens has driven the urgent need for developing innovative therapeutic approaches to overcome antibiotic resistance. Antibacterial phototherapy strategies have shown great potential for combating pathogens due to their broad-spectrum antimicrobial activity, spatiotemporal controllability, and relatively low rate of resistance emergence.

View Article and Find Full Text PDF

Background: Trace amine-associated receptor 1 (TAAR1) agonists offer a new approach, but there is uncertainty regarding their effects, exact mechanism of action and potential role in treating psychosis.

Aims: To evaluate the available evidence on TAAR1 agonists in psychosis, using triangulation of the output of living systematic reviews (LSRs) of animal and human studies, and provide recommendations for future research prioritisation.

Method: This study is part of GALENOS (Global Alliance for Living Evidence on aNxiety, depressiOn and pSychosis).

View Article and Find Full Text PDF

Urban Greening and Pollen Allergy: Balancing Health and Environmental Sustainability.

J Allergy Clin Immunol Pract

December 2024

Institute of Allergology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; Immunology and Allergology, Fraunhofer Institute for Translational Medicine and Pharmacology ITMP, Berlin, Germany. Electronic address:

Urban living requires a careful balance between human health and environmental sustainability when selecting urban vegetation. Public gardens and green roofs offer significant environmental benefits, including air filtration, exposure to health-associated microbiota, and mitigation of the urban heat island effect. However, prioritizing allergy-friendly species is crucial to prevent the exacerbation of pollen allergies.

View Article and Find Full Text PDF

Background: High-quality estimates of the epidemiology of the autism spectrum and the health needs of autistic people are necessary for service planners and resource allocators. Here we present the global prevalence and health burden of autism spectrum disorder from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 following improvements to the epidemiological data and burden estimation methods.

Methods: For GBD 2021, a systematic literature review involving searches in PubMed, Embase, PsycINFO, the Global Health Data Exchange, and consultation with experts identified data on the epidemiology of autism spectrum disorder.

View Article and Find Full Text PDF

The impact of information and communication technology on immunisation and immunisation programmes in low-income and middle-income countries: a systematic review and meta-analysis.

EBioMedicine

December 2024

Evidence-Based Public Health, Centre for International Health Protection, Robert Koch Institute, Berlin, Germany; Unité Epidémiologie et Recherche Clinique, Réseau de l'Arc, Saint-Imier, Switzerland.

Background: Low-income and Middle-income Countries (LMIC) are continually working to ensure everyone can access life-saving vaccines. Recognising the considerable impact of Information and Communication Technology (ICT) in healthcare, we performed a systematic review and meta-analysis to summarise ICT effectiveness in improving vaccine delivery in LMICs.

Methods: A systematic search from January 2010 to August 2023 in MEDLINE, EMBASE, Cochrane Library, BMJ Health & Care Informatics, and grey literature was performed.

View Article and Find Full Text PDF

Background: An increasing number of countries have legalised cannabis for medicinal purposes in recent years leading to tensions with other regulatory frameworks. Some countries grant a medical defence according to their drug driving legislations. This may lead to specific medico-legal assessments relating to the participation of cannabis patients in road traffic.

View Article and Find Full Text PDF

Background: SARS-CoV-2 has been associated with a higher proportion of asymptomatic infections and lower mortality in sub-Saharan Africa than high-income countries. However, there is currently a lack of data on cellular immune responses to SARS-CoV-2 in people living in Africa compared with people in high-income regions of the world. We aimed to assess geographical variation in peripheral and mucosal immune responses.

View Article and Find Full Text PDF

Pro-inflammatory diet affects markers of iron metabolism in healthy older adults.

J Trace Elem Med Biol

December 2024

Department of Nutrition and Gerontology, German Institute of Human Nutrition Potsdam-Rehbrücke, Nuthetal, Germany; Institute of Nutritional Science, University of Potsdam, Nuthetal, Germany; Department of Geriatrics and Medical Gerontology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin,  Germany; German Center for Cardiovascular Research (DZHK), Partner Site Berlin, Berlin, Germany; TraceAge-DFG Research Unit on Interactions of Essential Trace Elements in Healthy and Diseased Elderly, Potsdam-Berlin-Jena-Wuppertal, Germany.

Background: Inflammation and inadequate nutrition are common in older age and known to affect iron homeostasis. However, it is not known whether a pro-inflammatory diet affects iron status in older adults. We investigated the diet quality of healthy older adults considering markers of iron homeostasis and inflammation compared to a younger control.

View Article and Find Full Text PDF

SARS-CoV-2 infection and COVID-19 outcomes across mental disorders and the role of sex: A register-based study from Catalonia.

Psychiatry Res

December 2024

Group of Epidemiology of Mental Disorders and Ageing, Sant Joan de Déu Research Institute, Esplugues de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Instituto de Salud Carlos III, Madrid, Spain.

Introduction: This study investigated the risk of SARS-CoV-2 infection and severe COVID-19 outcomes among different mental health diagnoses and the role of sex in these associations.

Methods: Using electronic records from Catalonia, we identified adults receiving mental health care from 2017-2019 with diagnoses of non-affective psychosis (NAP), bipolar disorder (BD), depressive disorder (DEP), stress-related disorders, neurotic/somatoform disorders (NSD), and substance misuse (SUB) (exposed). The outcomes assessed were SARS-CoV-2 infection, COVID-19 hospitalization, and COVID-19-related death, compared to matched individuals without these mental disorders (unexposed).

View Article and Find Full Text PDF

Comparative efficacy of anaerobic digestion systems in removing antimicrobial resistance genes from swine wastewater.

J Hazard Mater

December 2024

Technology Innovation Center for Food Safety Surveillance and Detection (Hainan), Sanya Institute of China Agricultural University, Sanya 572025, China; National Key Laboratory of Veterinary Public Health Safety, College of Veterinary Medicine, China Agricultural University, Beijing 100193, China. Electronic address:

Swine farm wastewater is a major reservoir of antimicrobial resistance genes (ARGs). Anaerobic digestion (AD), widely implemented in farms, has been extensively studied for ARG removal. However, a comparative study on ARG removal efficiency across the four principal AD systems - up-flow anaerobic sludge blanket (UASB), continuous stirred tank reactor (CSTR), buried biogas digester (BBD), and septic tank (SPT) - is lacking.

View Article and Find Full Text PDF

Protocol for high-resolution 3D spatial transcriptomics using Open-ST.

STAR Protoc

December 2024

Laboratory for Systems Biology of Regulatory Elements, Berlin Institute for Medical Systems Biology (BIMSB), Max-Delbrück-Centrum for Molecular Medicine in the Helmholtz Association (MDC), Hannoversche Str. 28, 10115 Berlin, Germany; Charité - Universitätsmedizin, Charitéplatz 1, 10117 Berlin, Germany; German Center for Cardiovascular Research (DZHK), Site Berlin, Berlin, Germany; NeuroCure Cluster of Excellence, Berlin, Germany; German Cancer Consortium (DKTK), Heidelberg, Germany; National Center for Tumor Diseases (NCT), Site Berlin, Berlin, Germany. Electronic address:

Spatial transcriptomics (ST) is fundamental for understanding molecular mechanisms in health and disease. Here, we present a protocol for efficient and high-resolution ST in 2D/3D with Open-ST. We describe all steps for repurposing Illumina flow cells into spatially barcoded capture areas and preparing ST libraries from stained cryosections.

View Article and Find Full Text PDF

An expert consensus statement on biomarkers of ageing for use in intervention studies.

J Gerontol A Biol Sci Med Sci

December 2024

Human Nutrition & Exercise Research Centre, Centre for Healthier Lives, Population Health Sciences Institute, Newcastle University, Newcastle Upon Tyne, UK.

Biomarkers of ageing serve as important outcome measures in longevity-promoting interventions. However, there is limited consensus on which specific biomarkers are most appropriate for human intervention studies. This work aimed to address this need by establishing an expert consensus on biomarkers of ageing for use in intervention studies via the Delphi method.

View Article and Find Full Text PDF

Background: Cognitive and neuropsychiatric impairment, known as cerebellar cognitive affective syndrome (CCAS), may be present in cerebellar disorders. This study identified distinct CCAS subtypes in cerebellar patients using cluster analysis.

Methods: The German CCAS-Scale (G-CCAS-S), a brief screening test for CCAS, was assessed in 205 cerebellar patients and 200 healthy controls.

View Article and Find Full Text PDF

Objective: In this multicentric study, we were interested in the vision-related quality of life and its association with visual impairment in neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) in comparison to multiple sclerosis (MS) and healthy controls.

Methods: We analysed extracted data from the German NEMOS registry including National Eye Institute Visual Function Questionnaire (NEI-VFQ) scores, high and low contrast visual acuity (HCVA, LCVA), visually evoked potentials (VEP) and the scores for the expanded disability status scale (EDSS) and other neurological tests which assessed their disease-related impairment. The mean follow-up time of our patients was 1.

View Article and Find Full Text PDF

Soil conditions of croplands are a frequent topic of scientific research. In contrast, less is known about large-scale commercial plantations of perennial crops such as oil palm. Oil palm is a globally important tropical commodity crop which contributes to both food and energy security due to its exceptional productivity.

View Article and Find Full Text PDF

Emerging clinical evidence of a dual role for Ang-2 and VEGF-A blockade with faricimab in retinal diseases.

Graefes Arch Clin Exp Ophthalmol

December 2024

Doheny Eye Institute, University of California, Los Angeles, 150 N. Orange Grove Blvd, Suite 232, Pasadena, CA, USA.

Anti-vascular endothelial growth factor (VEGF) therapies have transformed the treatment of retinal diseases. However, VEGF signaling is only one component of the complex, multifactorial pathophysiology of retinal diseases, and many patients have residual disease activity despite ongoing anti-VEGF treatment. The angiopoietin/tyrosine kinase with immunoglobulin and epidermal growth factor receptor-2 (Ang/Tie2) signaling pathway is critical to endothelial cell homeostasis, survival, integrity, and vascular stability.

View Article and Find Full Text PDF

Metastasis-directed therapy (MDT) for oligometastatic breast cancer (≤ 5 metastases) has shown little effect in specific scenarios of randomized trials. Therefore, we aimed to assess outcomes after metastasis-directed stereotactic radiotherapy (SRT) in various clinical scenarios. We conducted an international retrospective cohort study in thirteen centers including breast cancer patients receiving SRT to any metastatic site.

View Article and Find Full Text PDF

RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.

Genet Med

December 2024

Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:

Article Synopsis
  • RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
  • The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
  • Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
View Article and Find Full Text PDF