-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.

Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of the gene-the Finnish founder variant (FINmaj).

The potential for glacial flour to impact soil fertility, crop yield and nutrition in mountain regions.

Novel sustainable agricultural strategies that enhance soil nutrients and human nutrition are crucial for meeting global food production needs. Here, we evaluate the potential of "glacial flour," a naturally crushed rock produced by glaciers known to be rich in nutrients (P, K, and micronutrients) needed for plant growth. Our proof-of-concept study, investigated soybean ( var.

Identifying risk factors for vomiting during diarrhea: A secondary analysis of a randomized trial of zinc supplementation.

Objectives: Supplemental zinc during acute diarrhea reduces illness duration but also increases vomiting. In a recent trial, we found that children receiving lower daily doses of zinc (5 mg or 10 mg vs. 20 mg) had lower rates of vomiting with comparable stool output and duration of diarrhea.

Long-term sickness absence trajectories and associated occupational and lifestyle-related factors: a longitudinal study among young and early midlife Finnish employees with pain.

Objectives: This study aimed to identify distinct trajectories of long-term sickness absence (LTSA, >10 consecutive working days) among young and early midlife Finnish employees who experienced pain at baseline. It also aimed to determine the pain characteristics and occupational and lifestyle factors associated with these LTSA patterns.

Design: Longitudinal occupational cohort study with register linkage.

Solu: a cloud platform for real-time genomic pathogen surveillance.

Background: Genomic surveillance is extensively used for tracking public health outbreaks and healthcare-associated pathogens. Despite advancements in bioinformatics pipelines, there are still significant challenges in terms of infrastructure, expertise, and security when it comes to continuous surveillance. The existing pipelines often require the user to set up and manage their own infrastructure and are not designed for continuous surveillance that demands integration of new and regularly generated sequencing data with previous analyses.

Low-temperature catalytic oxidation of ethanol over doped nickel phosphates.

This work is focused on the synthesis and performance of Ni(PO)-based catalysts doped with Cu, Co, Mn, Ce, Zr, and Mg for the complete oxidation of ethanol, aiming at reducing emissions from ethanol-blended gasoline. Nickel phosphate was prepared via the co-precipitation method, followed by impregnation with the specified dopants. The catalysts were thoroughly characterized by XRD, N-physisorption, XRF, FTIR and Raman spectroscopy, FESEM, NH-TPD, CO-TPD, and H-TPR to explain their performance.

Predictive equation derived from 6,497 doubly labelled water measurements enables the detection of erroneous self-reported energy intake.

Nutritional epidemiology aims to link dietary exposures to chronic disease, but the instruments for evaluating dietary intake are inaccurate. One way to identify unreliable data and the sources of errors is to compare estimated intakes with the total energy expenditure (TEE). In this study, we used the International Atomic Energy Agency Doubly Labeled Water Database to derive a predictive equation for TEE using 6,497 measures of TEE in individuals aged 4 to 96 years.

Tobacco Smoking in Early Adulthood and Labor Market Performance: The Cardiovascular Risk in Young Finns Study.

Introduction: Tobacco smoking has been associated with reduced success in the labor market, potentially due to its negative impact on labor productivity, especially in physically demanding jobs, as it affects physical fitness and performance adversely.

Methods: This prospective study used data from the Cardiovascular Risk in Young Finns Study survey, linked to register information on labor market outcomes and education attainment, to examine the association between tobacco smoking and long-term labor market outcomes (earnings and employment, N = 1953). Smoking levels were determined by cigarette pack-years in 2001, as reported in the survey, whereas annual earnings and employment status were tracked from 2001 to 2019.

Basic psychological needs satisfaction, coping functions, and emotional experiences in competitive athletes: a multi-states theory perspective.

The aim of the study was to investigate the relationship between basic psychological needs satisfaction, coping functions, cognitive appraisals, emotions, and psychobiosocial experiences in competitive athletes. Multi-states (MuSt) theory was used as the theoretical framework. The study involved a convenience sample of 183 Italian athletes (102 men), aged 16 to 48 years (M = 24.

A pilot study comparing three-dimensional models of tumor histopathology and magnetic resonance imaging.

Three-dimensional (3D) modeling is often used to provide better visual understanding. This has become an everyday tool especially in medical imaging. However, modeling soft tissue histopathology in 3D is in its early stages, thus making 3D comparison between radiology and histopathology difficult.

Occupational noise exposure and maternal pregnancy complications: register-based cohort from urban areas in four Nordic countries.

Objective: To assess the role of occupational noise exposure on pregnancy complications in urban Nordic populations.

Methods: A study population covering five metropolitan areas in Denmark, Finland, Norway and Sweden was generated using national birth registries linked with occupational and residential environmental exposures and sociodemographic variables. The data covered all pregnancies during 5-11 year periods in 2004‒2016, resulting in 373 184 pregnancies.

User Acceptance of a Home Robotic Assistant for Individuals With Physical Disabilities: Explorative Qualitative Study.

Background: Health care is shifting toward 5 proactive approaches: personalized, participatory, preventive, predictive, and precision-focused services (P5 medicine). This patient-centered care leverages technologies such as artificial intelligence (AI)-powered robots, which can personalize and enhance services for users with disabilities. These advancements are crucial given the World Health Organization's projection of a global shortage of up to 10 million health care workers by 2030.

Impact of high bleeding risk and associated risk factors on major adverse cardiovascular or cerebrovascular events in primary percutaneous coronary intervention treated ST-elevation myocardial infarction.

Background: After percutaneous coronary intervention (PCI), patients at high bleeding risk (HBR) according to The Academic Research Consortium for High Bleeding Risk (ARC-HBR) criteria have increased risk for ischemic complications. The underlying cause is not well documented. The aim of this study was to assess the ischemic risk among ST-elevation myocardial infarction (STEMI) patients classified as HBR according to the ARC-HBR and to identify individual risk factors.

Arrhythmogenic Right Ventricular Cardiomyopathy: the importance of biventricular strain in risk-stratification.

Despite arrhythmogenic right ventricular cardiomyopathy (ARVC) being predominantly a right ventricular (RV) disease, concomitant left ventricular (LV) involvement has been recognized. ARVC is diagnosed by the RV-centric 2010 Task Force Criteria(TFC) using routine echocardiography, but previous studies have suggested that strain imaging may be more sensitive to detect RV and LV dysfunction. No data however are available regarding the additional value of combining biventricular strain for risk stratification.

Changes and persistence in heart rate variability before and during social stress: A comparison of individuals with and without social anxiety disorder.

Individuals with social anxiety disorder (SAD) experience significant and persistent fear of social situations as they anticipate rejection, scrutiny, and embarrassment. Given that physiological reactions to social situations may shape emotional experience in SAD, understanding psychophysiological changes operating in SAD may be important to address this potentially key perpetuating factor. This study compared the patterns of change (via contrasts of estimated marginal means) and persistence (via autoregressive models) of two indices of heart rate variability (HRV; Root Mean Square of Successive Differences between normal heartbeats, and High-Frequency absolute units) as physiological measures of emotion regulation, between individuals with SAD (n = 94) and without (n = 59) using the Trier Social Stress Test phases (TSST).

Accelerator neutron sources for BNCT: Current status and some pointers for future development.

Recent decades have seen the development of accelerator neutron sources suitable for installation in a hospital setting. Numerous challenges have been faced and solved to deliver technology which continues to transform the field of BNCT. This paper begins by briefly reviewing the technologies which are currently, or soon will be, in clinical use.

Molecular Determinants of Protein Pathogenicity at the Single-Aggregate Level.

Determining the structure-function relationships of protein aggregates is a fundamental challenge in biology. These aggregates, whether formed in vitro, within cells, or in living organisms, present significant heterogeneity in their molecular features such as size, structure, and composition, making it difficult to determine how their structure influences their functions. Interpreting how these molecular features translate into functional roles is crucial for understanding cellular homeostasis and the pathogenesis of various debilitating diseases like Alzheimer's and Parkinson's.

IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.

Inositol 1,4,5-trisphosphate receptors (IP3R) mediate Ca2+ release from intracellular stores, contributing to complex regulation of numerous physiological responses. The involvement of the three IP3R genes (ITPR1, ITPR2 and ITPR3) in inherited human diseases has started to shed light on the essential roles of each receptor in different human tissues and cell types. Variants in the ITPR3 gene, which encodes IP3R3, have recently been found to cause demyelinating sensorimotor Charcot-Marie-Tooth neuropathy type 1J (CMT1J).

Self-Assembling of Multilayered Polymorphs with Ion Beams.

Polymorphism determines significant variations in materials' properties by lattice symmetry variation. If they are stacked together into multilayers, polymorphs may work as an alternative approach to the sequential deposition of layers with different chemical compositions. However, selective polymorph crystallization during conventional thin film synthesis is not trivial; changes of temperature or pressure when switching from one polymorph to another during synthesis may cause degradation of the structural quality.

The impact of tuberculosis-induced hyperglycemia on pulmonary microbiota and airway mucus secretion in individuals not previously diabetic: A systematic review and meta-analysis protocol.

The lung environment harbours a community of microbes that play a significant role in health and disease, including innate protection against pathogenic microorganisms. Infection with Mycobacterium tuberculosis, psychological stress associated with the tuberculosis (TB) disease, and the metabolites from the rifampicin treatment regimen have been reported to induce hyperglycemia and consequently type 2 diabetes mellitus (T2DM) in individuals not previously diabetic. The high glucose concentration is proposed to alter the composition of the lung microbiota and airway homeostasis, exerting an influence on TB disease and treatment outcomes.

An Acta Orthopaedica educational article: Treatment of pediatric spondylolysis and spondylolisthesis.

Spondylolysis is defined as a defect or elongation in the pars interarticularis of the lumbar spine, either unilateral or bilateral. Growing children with bilateral spondylolysis may develop spondylolisthesis, i.e.

Three-Year Follow-up After Antiviral Treatment in New-Onset Type 1 Diabetes: Results From the Diabetes Virus Detection and Intervention Trial.

Objective: In the Diabetes Virus Detection and Intervention trial, antiviral treatment with pleconaril and ribavirin decreased the decline, compared with placebo, in endogenous C-peptide 1 year after diagnosis of type 1 diabetes (T1D) in children and adolescents. This article reports the results 2 and 3 years after diagnosis.

Research Design And Methods: This was a multicenter, randomized, placebo-controlled (1:1) trial of 96 children and adolescents aged 6-15.

Post-SELEX modification of quinine aptamers through neoacetalization.

In this article, a neoacetalization-based method for post-SELEX modification of aptamers is introduced. Three modified quinine binding aptamer scaffolds were synthesized by replacing three different nucleosides of the binding site with a (2,3)-4-(methoxyamino)butane-1,2,3-triol residue. These aptamer scaffolds were incubated in different aldehyde mixtures with and without quinine, allowing the reversible formation of -methoxy-1,3-oxazinane (MOANA) nucleoside analogues through dynamic combinatorial chemistry.

First year of in-house forensic neuropathology consultations in Helsinki, Finland.

In July 2023, an in-house forensic neuropathology consultation pilot was established at the Helsinki office of the Forensic Medicine Unit, Finnish Institute for Health and Welfare. This offered an alternative to the previous practice of full outsourcing to a hospital neuropathology department. This paper aims to introduce the first year experiences of the pilot.