Publications by authors named "Ek M"

Introduction: Dysmenorrhea and heavy menstrual bleeding are the most common symptoms in adenomyosis, in addition to infertility and chronic pelvic pain. Hysterectomy is a common treatment for adenomyosis symptoms with curative effect on heavy menstrual bleeding but with less studied effects on pain reduction.

Material And Methods: This is a nationwide retrospective register-based cohort study including all hysterectomized patients with pathology-verified adenomyosis between 1 January 2012 and 31 December 2015 with a long-term follow-up three years pre- and three years postoperatively.

View Article and Find Full Text PDF

Zinc oxide (ZnO) is a semiconductor with a wide range of applications, and often the properties are modified by metal-ion doping. The distribution of dopant atoms within the ZnO crystal strongly affects the optical and magnetic properties, making it crucial to comprehend the structure down to the atomic level. Our study reveals the dopant structure and its contents in Eu-doped ZnO nanosponges with up to 20% Eu-O clusters.

View Article and Find Full Text PDF

Aqueous zinc-ion batteries have gained significant interest, offering several distinct advantages over conventional lithium-ion batteries owing to their compelling low cost, enhanced battery safety, and excellent environmental friendliness. Nevertheless, the unfortunate growth of zinc dendrites during cycling leads to poor electrochemical performance of zinc batteries, primarily attributed to the diminished wet mechanical properties and limited electrolyte uptake of existing commercial separators. Herein, a bio-based separator was developed from sustainable resources using natural polymers derived from wood pulp to replace fossil-based polyolefin separators.

View Article and Find Full Text PDF

Purpose: Although chromosome 21 is the smallest human chromosome, it is highly relevant in the pathogenicity of both cancer and congenital diseases, including Alzheimer disease and trisomy 21 (Down syndrome). In addition, cases with rare structural variants (SVs) of chromosome 21 have been reported. These events vary in size and include large chromosomal events, such as ring chromosomes and small partial aneuploidies.

View Article and Find Full Text PDF

Inversions are balanced structural variants that often remain undetected in genetic diagnostics. We present a female proband with a de novo Chromosome 15 paracentric inversion, disrupting MEIS2 and NUSAP1. The inversion was detected by short-read genome sequencing and confirmed with adaptive long-read sequencing.

View Article and Find Full Text PDF

Spectrum imaging with energy-dispersive X-ray spectroscopy (EDS) has become ubiquitous in material characterization using electron microscopy. Multivariate statistical methods, commonly principal component analysis (PCA), are often used to aid analysis of the resulting multidimensional datasets; PCA can provide denoising prior to further analysis or grouping of pixels into distinct phases with similar signals. However, it is well known that PCA can introduce artifacts at low signal-to-noise ratios.

View Article and Find Full Text PDF

Chromosomal inversions (INVs) are particularly challenging to detect due to their copy-number neutral state and association with repetitive regions. Inversions represent about 1/20 of all balanced structural chromosome aberrations and can lead to disease by gene disruption or altering regulatory regions of dosage-sensitive genes in Short-read genome sequencing (srGS) can only resolve ∼70% of cytogenetically visible inversions referred to clinical diagnostic laboratories, likely due to breakpoints in repetitive regions. Here, we study 12 inversions by long-read genome sequencing (lrGS) ( = 9) or srGS ( = 3) and resolve nine of them.

View Article and Find Full Text PDF

Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like translocations and inversions to supernumerary ring/marker chromosomes and small deletions or duplications. Understanding the complexity of these events and their clinical consequences requires pinpointing breakpoint junctions and resolving the derivative chromosome structure. This task often surpasses the capabilities of short-read sequencing technologies.

View Article and Find Full Text PDF

Heterozygous loss-of-function mutations in the gene are a common cause of frontotemporal dementia. Such mutations lead to decreased plasma and cerebrospinal fluid levels of progranulin (PGRN), a neurotrophic factor with lysosomal functions. Sortilin is a negative regulator of extracellular PGRN levels and has shown promise as a therapeutic target for frontotemporal dementia, enabling increased extracellular PGRN levels through inhibition of sortilin-mediated PGRN degradation.

View Article and Find Full Text PDF

Introduction: High body mass index (BMI) is a risk-factor for stress urinary incontinence (SUI). Mid-urethral sling (MUS) surgery is an effective treatment of SUI. The aim of this study was to investigate if there is an association between BMI at time of MUS-surgery and the long-term outcome at 10 years.

View Article and Find Full Text PDF

Loss-of-function variants in the gene have been identified as the strongest cause of susceptibility to atopic dermatitis (AD) in Europeans and Asians. However, very little is known about the genetic etiology behind AD in African populations, where the prevalence of AD is notably high. We sought to investigate the genetic origins of AD by performing whole-genome sequencing in an Ethiopian family with 12 individuals and several affected in different generations.

View Article and Find Full Text PDF

Long-read genome sequencing (lrGS) is a promising method in genetic diagnostics. Here we investigate the potential of lrGS to detect a disease-associated chromosomal translocation between 17p13 and the 19 centromere. We constructed two sets of phased and non-phased de novo assemblies; (i) based on lrGS only and (ii) hybrid assemblies combining lrGS with optical mapping using lrGS reads with a median coverage of 34X.

View Article and Find Full Text PDF

Autotransporters constitute a large family of natural proteins that are essential for delivering many types of proteins and peptides across the outer membrane in Gram-negative bacteria. In biotechnology, autotransporters have been explored for display of recombinant proteins and peptides on the surface of Escherichia coli and have potential as tools for directed evolution of affinity proteins. Here, we investigate conditions for AIDA-I autotransporter-mediated display of recombinant proteins.

View Article and Find Full Text PDF

Histone deacetylase 6 (HDAC6) is a unique member of the HDAC family mainly targeting cytosolic nonhistone substrates, such as α-tubulin, cortactin, and heat shock protein 90 to regulate cell proliferation, metastasis, invasion, and mitosis in tumors. We describe the identification and characterization of a series of 2-(difluoromethyl)-1,3,4-oxadiazoles (DFMOs) as selective nonhydroxamic acid HDAC6 inhibitors. By comparing structure-activity relationships and performing quantum mechanical calculations of the HDAC6 catalytic mechanism, we show that potent oxadiazoles are electrophilic substrates of HDAC6 and propose a mechanism for the bioactivation.

View Article and Find Full Text PDF

Introduction And Hypothesis: The mid-urethral sling (MUS) has been used for more than 30 years to cure stress urinary incontinence. The objective of this study was to assess whether surgical technique affects the outcome after more than ten years, regarding dyspareunia and pelvic pain.

Methods: In this longitudinal cohort study we used the Swedish National Quality Register of Gynecological Surgery to identify women who underwent MUS surgery in the period 2006-2010.

View Article and Find Full Text PDF
Article Synopsis
  • Neuromuscular disorders (NMDs) have various causes, and getting a genetic diagnosis is essential for personalized treatment.
  • The study analyzed 861 patients using genome sequencing to identify genetic variants associated with NMDs, finding that 27% had pathogenic variants, with one-third involving short tandem repeats (STRs) and structural variants (SVs).
  • The findings suggest that a comprehensive genome-wide analysis, especially for children with vague symptoms, is more effective than just focusing on specific disease-related genes, emphasizing the need to include STR and SV analyses in NMD diagnostics.
View Article and Find Full Text PDF

Vanadium oxides exist in a multitude of phases with varying structure and stoichiometry. This abundance of phases can be extended through the use of other oxides as supports, and through redox treatments. However, the combined effects of different supports and redox treatments can be difficult to identify, particularly when present as different terminating facets on nanoparticles.

View Article and Find Full Text PDF

Introduction And Hypothesis: Long-term performance of mid-urethral slings (MUS) and potential differences between the retropubic and the transobturator technique for insertion are scarcely studied. This study aims to evaluate the efficacy and safety 10 years after surgery and compare the two main surgical techniques used.

Methods: Women who underwent surgery with a MUS between 2006 and 2010 were identified using the Swedish National Quality Register of Gynecological Surgery and were invited 10 years after the operation to answer questionnaires regarding urinary incontinence and its impact on quality-of-life parameters (UDI-6, IIQ-7) and impression of improvement, as well as questions regarding possible sling-related complications and reoperation.

View Article and Find Full Text PDF

Spark ablation is an advantageous method for the generation of metallic nanoparticles with defined particle sizes and compositions. The reaction of the metal particles with the carrier gas during the synthesis and, therefore, the incorporation of those light elements into structural voids or even compound formation was confirmed for hydrides and oxides but has only been suspected to occur for nitrides. In this study, dispersed nanoparticles of MoNiN and Mo with Janus morphology, and defined particle sizes were obtained by spark discharge generation as a result of carrier gas ionization and characterized using transmission electron microscopy and powder X-ray diffraction.

View Article and Find Full Text PDF
Article Synopsis
  • Individuals with intellectual disabilities (ID) and neurodevelopmental disorders (NDD) are assessed using various genetic testing methods, including genome sequencing (GS) and chromosomal microarrays (CMA).
  • A study comparing three diagnostic approaches found that GS as the first test had a 35% diagnostic yield, while GS as a secondary test yielded 26%, and CMA/FMR1 yielded only 11%.
  • The research suggests that GS should be the preferred first-line genetic test for ID/NDD due to its higher effectiveness, lower costs, and potential to provide earlier diagnoses.
View Article and Find Full Text PDF

The interest in the bark and the attempt to add value to its utilization have increased over the last decade. By applying an integrated bark biorefinery approach, it is possible to investigate the recovery of compounds that can be used to develop green and sustainable alternatives to fossil-based materials. In this work, the focus is on extracting Norway spruce () bark lignin via organosolv extraction.

View Article and Find Full Text PDF

Nanowire growth enables creation of embedded heterostructures, where one material is completely surrounded by another. Through materials-selective post-growth oxidation it is also possible to combine amorphous oxides and crystalline, e.g.

View Article and Find Full Text PDF

Background: Risk prediction is an essential part of preventative medicine and in recent years genomic information has become an interesting factor in risk models. Polygenic risk scores (PRS) combine the effect of many genetic variations into a single score which has been shown to have predictive value for many diseases. This study aimed to investigate the association between PRS for endometriosis and the clinical presentation of the disease.

View Article and Find Full Text PDF

Thiazolidinedione PPARγ agonists such as rosiglitazone and pioglitazone are effective antidiabetic drugs, but side effects have limited their use. It has been posited that their positive antidiabetic effects are mainly mediated by the inhibition of the CDK5-mediated Ser273 phosphorylation of PPARγ, whereas the side effects are linked to classical PPARγ agonism. Thus compounds that inhibit PPARγ Ser273 phosphorylation but lack classical PPARγ agonism have been sought as safer antidiabetic therapies.

View Article and Find Full Text PDF