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Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity : Experience from two centres

Background: The diagnosis of monogenic obesity is burdened by frequent variants of uncertain significance (VUS). We describe our real-life approach of variant reassessment over time and we assess whether inconclusive variants are decreasing in monogenic obesity. Methods: We tested for monogenic obesity (genes: LEPR, POMC, ADCY3, PCSK1, CARTPT, SIM1, MRAP2, LEP, NTRK2, BDNF, KSR2, MAGEL2, SH2B1, MC

Post-covid medical complaints following infection with SARS-CoV-2 Omicron vs Delta variants

The SARS-CoV-2 Omicron (B.1.1.529) variant has been associated with lesssevere acute disease, however, concerns remain as to whether long-termcomplaints persist to a similar extent as for earlier variants. Studying 1 323 145persons aged 18-70 years living in Norway with and without SARS-CoV-2infection in a prospective cohort study, we found that individuals infected withOmicron had a similar risk

Tricuspid regurgitation management : a systematic review of clinical practice guidelines and recommendations

Tricuspid regurgitation (TR) is a highly prevalent condition and an independent risk factor for adverse outcomes. Multiple clinical guidelines exist for the diagnosis and management of TR, but the recommendations may sometimes vary. We systematically reviewed high-quality guidelines with a specific focus on areas of agreement, disagreement, and gaps in evidence. We searched MEDLINE and EMBASE (1 J

Rate of conversion to secondary arthroplasty after femoral neck fractures in 796 younger patients treated with internal fixation: a Swedish national register-based study

Background and purpose: In younger patients with a femoral neck fracture (FNF), internal fixation is the recommended treatment regardless of displacement. Healing complications are often treated with arthroplasty. We determined the rate of conversion to arthroplasty up to 5 years after fixation of either undisplaced FNFs (uFNFs) or displaced FNFs (dFNFs).Patients and methods: The study was based o

Ozonation of 14C-labeled micropollutants – mineralization of labeled moieties and adsorption of transformation products to activated carbon

Ozonation transformation products (OTPs) are largely unknown compounds that are formed during the ozonation of micropollutants, and it is uncertain to which extent these compounds can be removed by subsequent adsorption to activated carbon. Thus, 14C-labeled micropollutants were ozonated to generate 14C-labeled OTPs, for which the adsorption of the sum of all 14C-labeled OTPs to activated carbon c

The Effectiveness of Metagenomic Next-Generation Sequencing in the Diagnosis of Prosthetic Joint Infection : A Systematic Review and Meta-Analysis

Background: A prosthetic joint infection (PJI) is a devastating complication following total joint arthroplasties with poor prognosis. Identifying an accurate and prompt diagnostic method is particularly important for PJI. Recently, the diagnostic value of metagenomic next-generation sequencing (mNGS) in detecting PJI has attracted much attention, while the evidence of its accuracy is quite limite

The velocity distribution of white dwarfs in Gaia EDR3

Using a penalized maximum likelihood, we estimate, for the first time, the velocity distribution of white dwarfs in the solar neighbourhood. Our sample consists of 129 675 white dwarfs within 500 pc in Gaia Early Data Release 3. The white dwarf velocity distributions reveal a similar structure to the rest of the solar neighbourhood stars, reflecting that white dwarfs are subject to the same dynami

Preliminary Research : Application of Non-Invasive Measure of Cytochrome c Oxidase Redox States and Mitochondrial Function in a Porcine Model of Carbon Monoxide Poisoning

Introduction: Carbon monoxide (CO) is a colorless and odorless gas that is a leading cause of environmental poisoning in the USA with substantial mortality and morbidity. The mechanism of CO poisoning is complex and includes hypoxia, inflammation, and leukocyte sequestration in brain microvessel segments leading to increased reactive oxygen species. Another important pathway is the effects of CO o

The Borg scale is a sustainable method for prescribing and monitoring self-administered aerobic endurance exercise in patients with chronic kidney disease

Aim: To examine adherence, performance, and safety of self-administered aerobic endurance exercise when exercise intensity was prescribed and self-monitored with the Borg RPE scale in patients with chronic kidney disease (CKD), and the relationship between performed exercise and change in walking distance. Materials and Methods: 97 men and 50 women (age 66 ± 14 years, measured GFR 22 ± 8 mL/min/1.

Spatial genetic structure in the Madeiran endemic Dactylorhiza foliosa (Orchidaceae)

Oceanic islands have isolated biota, which typically include many endemic species. However, island endemics are vulnerable due to small population sizes, and they are often threatened by habitat destruction or by introduced pests and predators. Adequate conservation planning requires good information on genetic variability and population structure, also when seemingly viable species are considered

Hand function 6 weeks following non-surgically treated proximal phalangeal fractures and factors associated to upper extremity disability

Purpose: To describe hand function, and investigate adherence to a rehabilitation protocol and factors associated with upper extremity disability in non-surgically treated proximal phalangeal fractures. Material and methods: In a prospective cohort study, 86 patients (58 women, mean age of 49 years) were assessed at cast removal and 6 weeks follow-up. Adherence was registered in a diary. Factors p

From electronic structure to combustion model application for acrolein chemistry Part Ⅱ : Acrolein + HȮ2 reactions and the development of acrolein sub-mechanism

Acrolein, as one of the most hazardous aldehydes, can be formed among the carbonyls from the combustion of bio-fuels or mixtures of bio- and conventional fuels. Moreover, acrolein is also an important combustion intermediate in the oxidations of higher unsaturated hydrocarbons. A deep understanding of acrolein combustion chemistry will be useful for the kinetic modeling of higher hydrocarbons and

Considerable variation of trough β-lactam concentrations in older adults hospitalized with infection—A prospective observational study

In older adults, few studies confirm that adequate concentrations of antibiotics are achieved using current dosage regimens of intravenous β-lactam antibiotics. Our objective was to investigate trough concentrations of cefotaxime, meropenem, and piperacillin in older adults hospitalized with infection. We included 102 patients above 70 years of age. Total trough antibiotic concentrations were meas

Relationship between Papillomavirus vaccine, vaginal microbiome, and local cytokine response : an exploratory research

INTRODUCTION: The influence of vaccination on composition of the human microbiome at distinct sites has been recognized as an essential component in the development of new vaccine strategies. The HPV vaccine is widely used to prevent cervical cancer; however, the influence of HPV vaccine on the vaginal microbiota has not been previously investigated. In his study, we performed an initial character

Genetic factors affect the susceptibility to bacterial infections in diabetes

Diabetes increases the risk of bacterial infections. We investigated whether common genetic variants associate with infection susceptibility in Finnish diabetic individuals. We performed genome-wide association studies and pathway analysis for bacterial infection frequency in Finnish adult diabetic individuals (FinnDiane Study; N = 5092, Diabetes Registry Vaasa; N = 4247) using national register d

Using Human Genetics to Understand Mechanisms in Ischemic Stroke Outcome : From Early Brain Injury to Long-Term Recovery

There is a critical need to elucidate molecular mechanisms underlying brain injury, repair, and recovery following ischemic stroke-a global health problem with major social and economic impact. Despite 5 decades of intensive research, there are no widely accepted neuroprotective drugs that mitigate ischemic brain injury, or neuroreparative drugs, or personalized approaches that guide therapies to

Food intake in children and adolescents : a cross-sectional study from 2009/2010 to 2015/2016

The aim was to describe food intake over time in children and adolescents, with respect to age and gender. The present study was a repeated cross-sectional study using self-reported data from a health questionnaire. Data were collected from the School Health Services in south-east Sweden from 44 297 students, 10, 13-14 and 16 years of age, 48 % girls and 52 % boys from 2009/2010 to 2015/2016. Repo

Long-term tolerability and efficacy after initial PegIFN-α addition to dasatinib in CML-CP : Five-year follow-up of the NordCML007 study

Objectives: Treatment-free remission (TFR) has emerged as a treatment goal in chronic myeloid leukemia in the chronic phase (CML-CP). Attempts to increase proportion of patients achieving TFR include combination of tyrosine kinase inhibitors (TKI) and other drugs. Interferon-α in addition to TKI has shown promising efficacy but with dose-dependent toxicity and discontinuations. NordCML007 was init