Genomics yields biological and phenotypic insights into bipolar disorder.

Bipolar disorder is a leading contributor to the global burden of disease. Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.

Contribution of type 2 diabetes to major adverse cardiovascular events (MACE) in a long-term observational study with different stages of atherosclerosis.

The impact of diabetes on incident cardiovascular disease in relation to the extent of atherosclerotic disease remains unclear. We aimed to investigate major adverse cardiovascular events (MACE) in patients with or without type 2 diabetes (T2DM) presenting with two extremes of atherosclerotic disease, those with angiographically documented minor coronary atherosclerotic lesions and those with symptomatic peripheral artery disease. We included 1238 patients from two prospective, long-term cohort studies.

Nitrogen single and multiple breath washout test and lung imaging to detect treatment-related pulmonary toxicity in paediatric cancer patients and survivors: a systematic review.

Background: Spirometry-based assessment of pulmonary function has limitations in detecting pulmonary toxicity following cancer treatment with chemotherapy, haematopoietic stem cell transplantation, radiotherapy or thoracic surgery. Nitrogen single and multiple breath washout tests are sensitive in assessing peripheral airway function, and lung imaging detects structural abnormalities, but little is known about their use in paediatric cancer patients and survivors. We aimed to 1) identify studies using nitrogen single or multiple breath washout tests and/or lung imaging to assess pulmonary toxicity in paediatric cancer patients and survivors, and 2) describe reported abnormalities.

Life satisfaction around the world: Measurement invariance of the Satisfaction With Life Scale (SWLS) across 65 nations, 40 languages, gender identities, and age groups.

The Satisfaction With Life Scale (SWLS) is a widely used self-report measure of subjective well-being, but studies of its measurement invariance across a large number of nations remain limited. Here, we utilised the Body Image in Nature (BINS) dataset-with data collected between 2020 and 2022 -to assess measurement invariance of the SWLS across 65 nations, 40 languages, gender identities, and age groups (N = 56,968). All participants completed the SWLS under largely uniform conditions.

Innovative strategies for minimizing hematoma risk in MRI-guided breast biopsies.

Background: The study aimed to investigate the reduction of hematoma risk during MRI-guided breast biopsies by evaluating position-dependent intervention parameters and characteristics of the target lesion.

Materials And Methods: We retrospectively analyzed 252 percutaneous MRI-guided breast biopsies performed at a single center between January 2013 and December 2023. Two groups were built depending on the severity of relative hematoma formation (using a cut-off ≤ 7.

Detection of clinically relevant variants in the gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.

In chronic lymphocytic leukemia, the reliability of next-generation sequencing (NGS) to detect variants ≤10% allelic frequency (low-VAF) is debated. We tested the ability to detect 23 such variants in 41 different laboratories using their NGS method of choice. The sensitivity was 85.

Corrigendum: Person-based design and evaluation of MIA, a digital medical interview assistant for radiology.

[This corrects the article DOI: 10.3389/frai.2024.

Ambiguous Genitalia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel Variants.

3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the gene (c.779C > T/p.

Meeting report - Alpine desmosome disease meeting 2024: advances and emerging topics in desmosomes and related diseases.

Desmosomes are adhesive cell contacts abundant in tissues exposed to mechanical strain, such as the stratified and simple epithelia of the epidermis and mucous membranes, as well as the myocardium. Besides their role in mechanical cell cohesion, desmosomes also modulate pathways important for tissue differentiation, wound healing and immune responses. Dysfunctional desmosomes, resulting from pathogenic variants in genes encoding desmosomal components, autoantibodies targeting desmosomal adhesion molecules or inflammation, cause the life-threatening diseases arrhythmogenic cardiomyopathy and pemphigus and contribute to the pathogenesis of inflammatory bowel diseases.

Investigating the associations between personality functioning, cognitive biases, and (non-)perceptive clinical high-risk symptoms of psychosis in the community.

Background: Beyond psychosis prediction, clinical high-risk (CHR-P) symptoms show clinical relevance by their association with functional impairments and psychopathology, including personality pathology. Impaired personality functioning is prioritized in recent dimensional personality disorder models (DSM-5, ICD-11), yet underexplored in CHR-P, as are associations with cognitive biases, which early studies indicate as possibly linking CHR-P-symptoms and personality pathology.

Methods: A community sample ( 444, 17-60 years, 61.

Intervention to systematize fall risk assessment and prevention in older hospitalized adults: a mixed methods study.

Background: Fall-prevention interventions are efficient but resource-requiring and should target persons at higher risk of falls. We need to ensure that fall risk is systematically assessed in everyday practice. We conducted a quality improvement (QI) intervention to systematize fall risk assessment and prevention in older adults hospitalized on general internal medicine wards.

The Co-IMPACT Consortium: Integrating Prostate-specific Membrane Antigen Positron Emission Tomography and Radiotherapy in Prostate Cancer Care.

The Co-IMPACT consortium addresses knowledge gaps in prostate-specific membrane antigen positron emission tomography-guided radiotherapy for prostate cancer by establishing a global database (46 centres from 16 countries) to standardise and analyse data across four distinguished clinical scenarios. A collaborative model with the Advanced Prostate Cancer Consensus Conference aligns urgent clinical needs with actionable research insights.

National Consensus on the Assessment of Visual Function for Driving in Switzerland.

Purpose: To establish a national consensus on assessing visual function for fitness to drive in Switzerland.

Methods: The minimum medical requirements for visual function for fitness to drive are regulated by Swiss Federal Law, namely, by the Traffic Licensing Ordinance (TLO). The medical examination techniques relevant in this context and their assessment are not further specified therein, which leads to legal inequality among drivers and uncertainty among examiners.

The association between neighbourhood socioeconomic status and parental mental health in the first years after birth - Cross-sectional results from the SKKIPPI project.

Background: The urban environment can influence mental health. However, research on neighbourhood influences on mental health of parents with young children is sparse. This study aimed to analyse the association between neighbourhood socioeconomic status (SES) and mental health outcomes in urban parents in the first years after birth.

Contrast-enhanced US of High-Risk Indeterminate Focal Liver Observations Categorized as LR-4 or LR-M at CT/MRI.

Background Indeterminate focal liver observations in patients at risk for hepatocellular carcinoma (HCC) may require invasive biopsy or follow-up, which could lead to delays in definitive categorization and to postponement of treatment. Purpose To examine clinical effect of contrast-enhanced US (CEUS) in participants with high-risk indeterminate liver observations categorized as Liver Imaging Reporting and Data System (LI-RADS) category LR-4 (probably HCC) or LI-RADS category LR-M (probably or definitely malignant but not HCC specific) at CT or MRI. Materials and Methods This was a secondary analysis of a prospective international multicenter validation study for CEUS LI-RADS (January 2018 to August 2021).

Patient and public involvement in academic clinical research in Switzerland - a mixed methods study.

Background: While patient and public involvement (PPI) in clinical research contributes substantially to research ethics, feasibility and quality, the uptake and implementation of PPI-based approaches in Switzerland remain unknown. This study aimed to evaluate the current state and acceptance of PPI in academic clinical research in Switzerland, with the goal of developing recommendations for its future implementation and development.

Methods: A sequential explanatory mixed-methods study was conducted to assess the current landscape and acceptance of PPI in academic clinical research across different stakeholder groups in Switzerland.

Improving sex and gender equity in research protocols: the new SAGER-swissethics recommendations.

No abstract available.

Advancements in lung cancer: a comprehensive perspective on diagnosis, staging, therapy and follow-up from the SAKK Working Group on Imaging in Diagnosis and Therapy Monitoring.

In 2015, around 4400 individuals received a diagnosis of lung cancer, and Switzerland recorded approximately 3200 deaths related to lung cancer. Advances in detection, such as lung cancer screening and improved treatments, have led to increased identification of early-stage lung cancer and higher chances of long-term survival. This progress has introduced new considerations in imaging, emphasising non-invasive diagnosis and characterisation techniques like radiomics.

Sociodemographic and regional differences in neonatal and infant mortality in Switzerland in 2011-2018: the Swiss National Cohort.

Background And Aims: Despite a well-funded healthcare system with universal insurance coverage, Switzerland has one of the highest neonatal and infant mortality rates among high-income countries. Identifying avoidable risk factors targeted by evidence-based policies is a public health priority. We describe neonatal and infant mortality in Switzerland from 2011 to 2018 and explore associations with neonatal- and pregnancy-related variables, parental sociodemographic information, regional factors and socioeconomic position (SEP) using data from a long-term nationwide cohort study.

Enhancing interprofessional ward rounds by identifying factors associated with low satisfaction and efficiency: a quantitative and qualitative national survey of Swiss healthcare professionals.

Aims Of The Study: Interprofessional ward rounds are a cornerstone of patient-centred care for medical inpatients and offer opportunities to discuss and coordinate patient treatment and further management. We aimed to identify factors associated with lower satisfaction and efficiency of interprofessional ward rounds, as reported by physicians and nurses.

Methods: An anonymous Swiss nationwide online survey of physicians and nurses was conducted in 28 Swiss internal medicine inpatient departments between 9 August and 19 October 2023.

E-cigarettes, synthetic nicotine, heated-tobacco and smokeless nicotine delivery products: the nicotine landscape beyond combustible cigarettes.

Cigarette smoking remains an enormous public health problem causing millions of preventable deaths annually worldwide. Although safe and efficient smoking cessation pharmacotherapies such as nicotine replacement products and the medications varenicline and bupropion are available, long-term abstinence rates remain low and new approaches to help smokers successfully quit smoking are needed. In recent years, electronic nicotine delivery systems such as e-cigarettes and heated-tobacco products, and novel smokeless nicotine delivery products like nicotine pouches have gained widespread popularity.

High prevalence of fecal carriage of extended-spectrum beta-lactamase producing among patients with urinary tract infections in rural Tanzania.

Introduction: The global rise of extended-spectrum beta-lactamase-producing (ESBL-PE) challenges resource-limited countries with insufficient laboratory infrastructure. This study investigates fecal carriage and risk factors for ESBL-PE and carbapenemase-producing organisms among patients with urinary tract infection (UTI) in rural Tanzania.

Methods: This cross-sectional study was conducted at St.

Adapting to the emotional complexity of palliative care communication: Palliative care clinicians' experiences.

Objectives: Communication is essential to medical care and is key in improving patient outcomes. We aimed to understand clinicians' emotions when communicating with patients in palliative care (PC) and the evolution of their communication skills.

Methods: Between October and November 2021, 231 Swiss PC clinicians participated in an online cross-sectional survey (65% nurses, 35% physicians).

Towards a decision support system for post bariatric hypoglycaemia: development of forecasting algorithms in unrestricted daily-life conditions.

Background: Post bariatric hypoglycaemic (PBH) is a late complication of weight loss surgery, characterised by critically low blood glucose levels following meal-induced glycaemic excursions. The disabling consequences of PBH underline the need for the development of a decision support system (DSS) that can warn individuals about upcoming PBH events, thus enabling preventive actions to avoid impending episodes. In view of this, we developed various algorithms based on linear and deep learning models to forecast PBH episodes in the short-term.