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Background: The introduction of next-generation sequencing into the diagnosis of neuromuscular disorders has resulted in an increased number of newly identified RYR1 variants. The hypothesis was that there is an increased referral of patients to malignant hyperthermia units without a personal/family history of adverse anesthetic events suspected to be malignant hyperthermia. This retrospective mul

Context: The male hypothalamic-pituitary-gonadal (HPG) axis is transiently active during the first months of life with surging serum concentrations of reproductive hormones. This period, termed minipuberty, appears to be essential for priming testicular function. Despite the central role for male reproductive function, longitudinal data on HPG axis activation in infancy is sparse. Objective: To ex

Context: There is a dispute whether obesity without major metabolic derangements may represent a benign condition or not. Objective: We aimed to compare the plasma metabolome in obese subjects without metabolic syndrome (MetS) with normal-weight subjects without MetS and with obese subjects with MetS. Methods: This was a cross-sectional study at 2 academic centers in Sweden. Individuals from 3 pop

The influence of climate on soil microorganisms governs the input and output fluxes of carbon (C) from soils. The study of the drastic responses to drying-rewetting offers an opportunity to assess an aspect of ‘soil health’ via evaluating the role of microbes in soil biochemistry and C cycling. Recent evidence has consistently shown that communities exposed to extreme moisture fluctuations recurre

The complex and dynamic system of fluid flow through the perivascular and interstitial spaces of the CNS has new-found implications for neurological diseases. CSF movement throughout the CNS parenchyma is more dynamic than could be explained via passive diffusion mechanisms alone. Indeed, a semistructured glial-lymphatic (glymphatic) system of astrocyte-supported extracellular perivascular channel

Objective: To determine the circulation of poliovirus in three municipalities considered as transitory points for migrants in Colombia. Material and Method: Wastewater samples (n = 36) were collected from border municipalities, selected for greater transit of regular and irregular migrants, in the period between 2017-2019. The samples were concentrated and cultured following the World Health Organ

Objective: Differences in outcome after radical prostatectomy for prostate cancer can partly be explained by intersurgeon differences, where degree of experience is one important aspect. This study aims to define the learning curve of robot-assisted laparoscopic prostatectomy (RALP) regarding oncological and functional outcomes. Materials and methods: Out of 4003 enrolled patients in the LAPPRO tr

Aims: Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive condition caused by deposition of transthyretin amyloid fibrils in the heart and is associated with poor quality of life and a shortened lifespan. This study aimed to describe the prevalence, clinical characteristics, and mortality of patients with ATTR-CM, using multiple national health registers in Denmark, Finland, Norway, an

Proteomics is widely utilized to understand the function of cellular processes at the molecular level. Using liquid chromatography interfaced with mass spectrometry (LC-MS)-based proteomics, thousands of proteins can be identified and quantified in a single experiment and their relationship and interactions can be analyzed. This makes the analysis of high-throughput proteomics data a cornerstone i

Context: Whether biochemical remission normalizes life expectancy in Cushing's disease (CD) patients remains unclear. Previous studies evaluating mortality in CD are limited by using the expected number of deaths in the background population instead of the actual number in matched controls. Objective and setting: To study mortality by time-to-event analysis in an unselected nationwide CD patient c

Introduction: Uncertainty in the dose-response of low dose radiation raised concern of an increased cancer incidence in Sweden after the Chernobyl Nuclear Power Plant (NPP) accident. Material and methods: A closed cohort was created of all males ≥18 years of age living in the Northern Sweden in 1986. In total 826,400 individuals were enrolled including 40,874 hunters. A nested case-control design

The advent of PET ligands that bind tau pathology has enabled the quantification and visualization of tau pathology in aging and in Alzheimer disease (AD). There is strong evidence from neuropathologic studies that the most widely used tau PET tracers (i.e., 18F-flortaucipir, 18F-MK6240, 18F-RO948, and 18F-PI2620) bind tau aggregates formed in AD in the more advanced (i.e., ≥IV) Braak stages. Howe

Background: Radium-223, an alpha-emitting therapeutic radiopharmaceutical, prolongs overall survival (OS) in patients with symptomatic bone-predominant metastatic castration-resistant prostate cancer (mCRPC). PSMA PET/CT is a molecular imaging tool for whole-body imaging of prostate cancer and may inform on the mechanisms of radium-223 activity and treatment resistance in mCRPC patients. Methods:

Conspecific tolerance is key for maintaining group cohesion in animals. Understanding shifts from conspecific tolerance to intolerance is therefore important for understanding transitions to sociality. Subsocial species disperse to a solitary lifestyle after a gregarious juvenile phase and display conspecific intolerance as adults as a mechanism to maintain a solitary living. The development of in

Variational nonlinear chirp mode decomposition (VNCMD) is a recently introduced method for nonlinear chirp signal decomposition that has aroused notable attention in various fields. One limiting aspect of the method is that its performance relies heavily on the setting of the bandwidth parameter. To overcome this problem, we here propose a Bayesian implementation of the VNCMD, which can adaptively

Studies of tree species effects on soils have revealed a significant impact on soil organic carbon (SOC) stocks and the carbon (C) distribution between forest floor and mineral soil, but the underlying mechanisms including the roles of litter traits, soil properties, and microbiome remain unclear. To address this challenge, we tested the effect of six common European tree species on the quality an

Aortic aneurysms are rare manifestations in children with tuberous sclerosis complex (TSC) with life threating implications. Although an association between TSC, aortic and other aneurysms has been recognized, mechanistic insights explaining the pathophysiology behind aneurysm development and genetic aberrations in TSC have so far been lacking. Here, we summarize existing knowledge on aneurysms in