Myotilin gene duplication causing late-onset myotilinopathy.

Background: myotilinopathy is a very rare inherited muscle disease that belongs to the group of myofibrillar myopathies. These diseases share a common alteration of the sarcomere organization at the level of the Z disk resulting in pathological protein aggregation, autophagic abnormalities, and ultimately muscle degeneration. Most reported cases are due to dominant missense mutations in the MYOT gene, two of which are largely recurrent.

Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function.

Dissecting the genetic mechanisms underlying urinary metabolite concentrations can provide molecular insights into kidney function and open possibilities for causal assessment of urinary metabolites with risk factors and disease outcomes. Proton nuclear magnetic resonance metabolomics provides a high-throughput means for urinary metabolite profiling, as widely applied for blood biomarker studies. Here we report a genome-wide association study meta-analysed for 3 European cohorts comprising 8,011 individuals, covering both people with type 1 diabetes and general population settings.

Polymyositis in Kooiker dogs is associated with a 39 kb deletion upstream of the canine IL21/IL2 locus.

Recently we characterized polymyositis in the Dutch Kooiker dog. The familial occurrence of the disease were suggestive of an inherited cause. Here we report the results of our molecular genetic investigation.

Rare gene variants and weight loss at 10 years after sleeve gastrectomy and gastric bypass - a randomized clinical trial.

Background: Genetic background of severe obesity is inadequately understood. The effect of genetic factors on weight loss after metabolic bariatric surgery (MBS) has shown inconclusive results.

Objectives: To determine the prevalence of rare obesity-associated gene variants in a secondary analysis of a randomized clinical trial (RCT) comparing laparoscopic sleeve gastrectomy (LSG) and laparoscopic Roux-en-Y gastric bypass (LRYGB) for the treatment of severe obesity and examine their association with long-term weight loss at 10 years.

The incidence of venous thromboembolism is low when risk stratification-based thromboprophylaxis is used after fast-track hip and knee arthroplasty.

Background: The optimal length of thromboprophylaxis after total hip or knee arthroplasty (THA and TKA) is unknown. Fast-track protocols have improved patient care and led to shorter immobilization and length of stay (LOS) after THA and TKA, thereby diminishing venous thromboembolism (VTE) risk. Here, we investigated risk stratification-based thromboprophylaxis after fast-track THA and TKA.

Metagenome-validated combined amplicon sequencing and text mining-based annotations for simultaneous profiling of bacteria and fungi: vaginal microbiota and mycobiota in healthy women.

Background: Amplicon sequencing of kingdom-specific tags such as 16S rRNA gene for bacteria and internal transcribed spacer (ITS) region for fungi are widely used for investigating microbial communities. So far most human studies have focused on bacteria while studies on host-associated fungi in health and disease have only recently started to accumulate. To enable cost-effective parallel analysis of bacterial and fungal communities in human and environmental samples, we developed a method where 16S rRNA gene and ITS1 amplicons were pooled together for a single Illumina MiSeq or HiSeq run and analysed after primer-based segregation.

Determinants of binge eating and its impact on indicators of obesity among Finnish adolescents - a cohort study.

Background: Binge eating, a type of disordered eating, is relatively common among youth and predisposes them to many adverse health outcomes. Diverse psychological and social factors may be associated with binge eating. The aim of this study was to examine child and parental psychosocial determinants of binge eating and its impact on indicators of obesity.

Geocultural differences in pre-schooler sleep profiles and family practices: an analysis of pooled data from 37 countries.

Study Objectives: To examine 1) multidimensional sleep profiles in pre-schoolers (3-6 years) across geocultural regions and 2) differences in sleep characteristics and family practices between Majority World regions (Pacific Islands, Sub-Saharan Africa, Eastern Europe, Northeast Asia, Southeast Asia, South Asia, the Middle East and North Africa, Latin America) and the Minority World (the Western world).

Methods: Participants were 3507 pre-schoolers from 37 countries. Nighttime sleep characteristics and nap duration (accelerometer: n=1950) and family practices (parental questionnaire) were measured.

Investigating preschool-aged chronotype and social jetlag as predictors of early adolescent diet and BMI z-score: an eight-year follow-up from the DAGIS study.

Background/objectives: Circadian health plays an important role in overall well-being. The objective of this study was to examine whether potential indicators of circadian disruption, such as exhibiting a later chronotype or greater social jetlag, in preschool-age could predict dietary habits or BMI z-scores in an eight-year follow-up.

Subjects/methods: Our data included 210 children who participated in the DAGIS Survey in 2015-2016 (baseline, mean [SD] age: 4.

Differential somatic coding variant landscapes between laser microdissected luminal epithelial cells from canine mammary invasive ductal solid carcinoma and comedocarcinoma.

Background: Breast cancer (BC) is the most common cancer in women. Likewise, canine mammary tumors (CMT) represent the most common cancer in intact female dogs and develop in the majority spontaneously. Similarities exist in clinical presentation, histopathology, biomarkers, and treatment.

Can a Universal Mindfulness Intervention in Schools Reduce ADHD Symptoms among Adolescents? A Cluster Randomized Controlled Trial.

Existing studies suggest that mindfulness-based interventions (MBIs) can reduce ADHD symptoms when delivered as targeted clinical programs to young people diagnosed with ADHD. However, there is currently a lack of research on whether MBIs are effective in reducing elevated ADHD symptoms when delivered as universal programs to whole classes in schools. This study investigated the effects of a universal nine-week MBI (.

The Role of Prenatal Ultrasound and Added Value of Post-Mortem Radiographic Imaging With X-Ray and CT in Suspected Fetal Skeletal Dysplasia.

Objective: This study aims to assess the diagnostic value of post-mortem radiographic imaging compared with prenatal ultrasound in suspected fetal skeletal dysplasias in a large Finnish cohort.

Method: Prenatal ultrasound findings and their association with post-mortem radiographic imaging were evaluated in a cohort of 36 fetuses with prenatally suspected skeletal dysplasia.

Results: Prenatal ultrasound performed well in detecting skeletal dysplasias and severe forms of the disease.

The relationship between self-care preparedness and quality of life in a 3-year-follow-up: a study in primary health care.

Background: Measuring self-care preparedness may enable better support for patients in general practice.

Objective: This study assessed the relationship between the self-care preparedness index (SCPI) and health-related quality of life (HRQoL) in a longitudinal analysis over 36 months.

Methods: This was a secondary analysis of an intervention group of a randomized controlled trial.

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

Purpose: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome or panel sequencing datasets aligned to a GRCh37, GRCh38, or T2T reference genome.

Methods: The SMA Finder algorithm detects the most common genetic causes of SMA by evaluating reads that overlap the c.840 position of the SMN1 and SMN2 paralogs.

Blood methylation biomarkers are associated with diabetic kidney disease progression in type 1 diabetes.

Background: DNA methylation differences are associated with kidney function and diabetic kidney disease (DKD), but prospective studies are scarce. Therefore, we aimed to study DNA methylation in a prospective setting in the Finnish Diabetic Nephropathy Study type 1 diabetes (T1D) cohort.

Methods: We analysed baseline blood sample-derived DNA methylation (Illumina's EPIC array) of 403 individuals with normal albumin excretion rate (early progression group) and 373 individuals with severe albuminuria (late progression group) and followed-up their DKD progression defined as decrease in eGFR to <60 mL/min/1.

Integrated analysis of per- and polyfluoroalkyl substances and plasma lipidomics profiles in multi-ethnic Asian subjects for exposome research.

Background: Perfluoroalkyl and polyfluoroalkyl substances (PFAS) exposure has been associated with metabolic diseases, however, the underlying molecular pathogenesis remains to be understood. Integrated PFAS and lipidomic analysis has the potential to identify alterations in lipid metabolism pathways for exposome research.

Methods: A targeted LC-MS/MS method was developed for the quantification of 14 PFAS from human plasma samples (n = 96).

Co-Occurrence of Two Rare Diseases: A Child with Phenylketonuria and WNT1 Osteoporosis.

Introduction: Phenylketonuria (PKU), an inborn error of metabolism, when inadequately treated, may lead to nutritional deficits, which could affect bone health. This remains a controversial issue, given that in the majority of PKU cases, bone mineral density is within normal limits. On the other hand, WNT1 mutations are detrimental for bone, as they lead to primary osteoporosis.

Urinary metabolomics provide insights into coronary artery disease in individuals with type 1 diabetes.

Background: Type 1 diabetes increases the risk of coronary artery disease (CAD). High-throughput metabolomics may be utilized to identify metabolites associated with disease, thus, providing insight into disease pathophysiology, and serving as predictive markers in clinical practice. Urine is less tightly regulated than blood, and therefore, may enable earlier discovery of disease-associated markers.

Outdoor mobility in senior housing residents and community-dwelling older people in different population density areas.

Background: Outdoor mobility supports functioning and active life in old age. There is scarce knowledge about the outdoor mobility of senior housing residents, and it remains unclear whether outdoor mobility is dependent on one's home location.

Aims: We investigated outdoor mobility among senior housing residents and community-dwelling older adults in different population-density areas.