A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations.

Mutations in the SLC1A4 transporter lead to neurodevelopmental impairments, spastic tetraplegia, thin corpus callosum and microcephaly in children. SLC1A4 catalyses obligatory amino acid exchange between neutral amino acids, but the physiopathology of SLC1A4 disease mutations and progressive microcephaly remain unclear. Here, we examined the phenotype and metabolic profile of three Slc1a4 mouse models: a constitutive Slc1a4-knockout mouse; a knock-in mouse with the major human Slc1a4 mutation (Slc1a4-K256E); and a selective knockout of Slc1a4 in brain endothelial cells (Slc1a4tie2-cre).

Interrater reliability of the Fugl-Meyer Motor assessment in stroke patients: a quality management project within the ESTREL study.

Introduction: The Fugl-Meyer Motor Assessment (FMMA) is recommended for evaluating stroke motor recovery in clinical practice and research. However, its widespread use requires refined reliability data, particularly across different health professions. We therefore investigated the interrater reliability of the FMMA scored by a physical therapist and a physician using video recordings of stroke patients.

Upper limb movement quality measures: comparing IMUs and optical motion capture in stroke patients performing a drinking task.

Introduction: Clinical assessment of upper limb sensorimotor function post-stroke is often constrained by low sensitivity and limited information on movement quality. To address this gap, recent studies proposed a standardized instrumented drinking task, as a representative daily activity combining different components of functional arm use. Although kinematic movement quality measures for this task are well-established, and optical motion capture (OMC) has proven effective in their measurement, its clinical application remains limited.

Patient leaflets on respiratory tract infections did not improve shared decision making and antibiotic prescriptions in a low-prescriber setting.

Patient information leaflets can reduce antibiotic prescription rates by improving knowledge and encouraging shared decision making (SDM) in patients with respiratory tract infections (RTI). The effect of these interventions in antibiotic low-prescriber settings is unknown. We conducted a pragmatic pre-/post interventional study between October 2022 and March 2023 in Swiss outpatient care.

Targeting the mevalonate or Wnt pathways to overcome CAR T-cell resistance in TP53-mutant AML cells.

TP53-mutant acute myeloid leukemia (AML) and myelodysplastic neoplasms (MDS) are characterized by chemotherapy resistance and represent an unmet clinical need. Chimeric antigen receptor (CAR) T-cells might be a promising therapeutic option for TP53-mutant AML/MDS. However, the impact of TP53 deficiency in AML cells on the efficacy of CAR T-cells is unknown.

The feasibility of the adapted H-GRASP program for perceived and actual daily-life upper limb activity in the chronic phase post-stroke.

Purpose: Assessing feasibility and initial impact of the Home-Graded Repetitive Arm Supplementary Program combined with in-home accelerometer-based feedback (AH-GRASP) on perceived and actual daily-life upper limb (UL) activity in stroke survivors during the chronic phase with good UL motor function but low perceived daily-life activity.

Material And Methods: A 4-week intervention program (4 contact hours, 48 h self-practice) encompassing task-oriented training, behavioral techniques, phone-based support, monitoring, and weekly feedback sessions using wrist-worn accelerometery was implemented using a pre-post double baseline repeated measures design. Feasibility, clinical assessments, patient-reported outcomes, and accelerometer data were investigated.

Primary care indicators for disease burden, monitoring and surveillance of COVID-19 in 31 European countries: Eurodata Study.

Background: During the COVID-19 pandemic, the majority of patients received ambulatory treatment, highlighting the importance of primary health care (PHC). However, there is limited knowledge regarding PHC workload in Europe during this period. The utilization of COVID-19 PHC indicators could facilitate the efficient monitoring and coordination of the pandemic response.

Assessing the excess costs of the in-hospital adverse events covered by the AHRQ's Patient Safety Indicators in Switzerland.

There currently exists no comprehensive and up-to date overview on the financial impact of the different adverse events covered by the Patient Safety Indicators (PSIs) from the Agency for Healthcare Research and Quality. We conducted a retrospective case-control study using propensity score matching on a national administrative data set of 1 million inpatients in Switzerland to compare excess costs associated with 16 different adverse events both individually and on a nationally aggregated level. After matching 8,986 cases with adverse events across the investigated PSIs to 26,931 controls, we used regression analyses to determine the excess costs associated with the adverse events and to control for other cost-related influences.

Influenza vaccination patterns among at-risk patients during the Covid-19 pandemic-a retrospective cross-sectional study based on claims data.

Purpose: The Covid-19 pandemic may have encouraged at-risk patients to get vaccinated against influenza for the first time. As previous vaccinations are known predictors for further vaccinations, knowledge about individual vaccination patterns, especially in first time vaccinated patients, is of great interest. The aim of this study was to determine influenza vaccination uptake rate (VUR), individual vaccination patterns and factors associated with vaccination uptake among at-risk patients.

Broken bones and apple brandy: resilience and sensemaking of general practitioners and their at-risk patients during the COVID-19 pandemic in Switzerland.

In early 2020, when the first COVID-19 cases were confirmed in Switzerland, the federal government started implementing measures such as national stay-at-home recommendations and a strict limitation of health care services use. General practitioners (GPs) and their at-risk patients faced similar uncertainties and grappled with subsequent sensemaking of the unprecedented situation. Qualitative interviews with 24 GPs and 37 at-risk patients were conducted which were analyzed using thematic analysis.

Effects of vitamin D, omega-3 and a simple strength exercise programme in cardiovascular disease prevention: The DO-HEALTH randomized controlled trial.

Background: The effects of non-pharmaceutical interventions in the prevention of cardiovascular diseases (CVD) in older adults remains unclear. Therefore, the aim was to investigate the effect of 2000 IU/day of vitamin D, omega-3 fatty acids (1 g/day), and a simple home strength exercise program (SHEP) (3×/week) on lipid and CVD biomarkers plasma changes over 3 years, incident hypertension and major cardiovascular events (MACE).

Methods: The risk of MACE (coronary heart event or intervention, heart failure, stroke) was an exploratory endpoint of DO-HEALTH, incident hypertension and change in biomarkers were secondary endpoints.

Exocrine gland-resident memory CD8 T cells use mechanosensing for tissue surveillance.

Tissue-resident CD8 T cells (T) continuously scan peptide-MHC (pMHC) complexes in their organ of residence to intercept microbial invaders. Recent data showed that T lodged in exocrine glands scan tissue in the absence of any chemoattractant or adhesion receptor signaling, thus bypassing the requirement for canonical migration-promoting factors. The signals eliciting this noncanonical motility and its relevance for organ surveillance have remained unknown.

An integrated model of psychosocial correlates of insomnia severity in family caregivers of people with dementia.

Objectives: Research has shown the relevance of stress and coping factors in explaining caregivers' insomnia symptoms. However, few attempts have been made to empirically test an integrative model for insomnia severity in family caregivers of people with dementia. The aim of this study was to test such a model, in which insomnia severity is proposed to be influenced by predisposing factors, precipitated by stressors, and perpetuated by behaviors to cope with these stressors.

Channel Activities of the Full-Length Prion and Truncated Proteins.

Prion diseases are fatal neurodegenerative disorders characterized by the conversion of the cellular prion protein (PrP) into a misfolded prion form, which is believed to disrupt the cellular membranes. However, the exact mechanisms underlying prion toxicity, including the formation of membrane pores, are not fully understood. The prion protein consists of two domains: a globular domain (GD) and a flexible N-terminus (FT) domain.

Patient-reported experience is associated with higher future revenue and lower costs of hospitals.

Background: Despite the established positive association between patient experience and patient volume, the relationship between patient experience and the financial performance of hospitals has not been studied thoroughly.

Methods: To investigate this relationship, we used longitudinal data from 132 Swiss acute-care hospitals from 2016 to 2019 to examine the associations between patient experience and the proportion of elective patients, revenue, costs, and profits of hospitals. To account for a potential time lag effect, we utilized annual patient experience data and employed multilevel mixed-effects regression modeling to investigate its association with the aforementioned financial performance indicators for the following year.

ERS technical standard: Global Lung Function Initiative reference values for exhaled nitric oxide fraction ( ).

Background: Elevated exhaled nitric oxide fraction at a flow rate of 50 mL·s ( ) is an important indicator of T-helper 2-driven airway inflammation and may aid clinicians in the diagnosis and monitoring of asthma. This study aimed to derive Global Lung Function Initiative reference equations and the upper limit of normal for .

Methods: Available individual data were collated and harmonised using consensus-derived variables and definitions.

Influenza vaccination uptake among at-risk patients in Switzerland-The potential of national claims data for surveillance.

Background: Swiss national surveillance of influenza vaccination uptake rates (VURs) relies on self-reported vaccination status. The aim of this study was to determine VURs among at-risk patients, namely, patients ≥65 of age and adult patients with chronic diseases, using claims data, instead of self-reported measures, to investigate factors of vaccine uptake, and to assess different methodological approaches to conduct vaccination surveillance.

Methods: In this retrospective cross-sectional analysis, we determined VURs in three influenza seasons (2015/2016-2017/2018).