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Gene panel sequencing has become a common diagnostic tool for detecting somatically acquired mutations in myeloid neoplasms. However, many panels have restricted content, provide insufficient sensitivity levels, or lack clinically validated workflows. We here describe the development and validation of the Genomic Medicine Sweden myeloid gene panel (GMS-MGP), a capture-based 191 gene panel includin

BACKGROUND: In Bangladesh, diarrhoea in children under-five is a major public health problem with cost implications. Although under-five diarrhoea mortality and morbidity have declined from 2007 to 2018, change in the economic burden is unknown. This study determined the change in the societal economic burden of under-five diarrhoea in Bangladesh comparing 2007 to 2018.METHODS: A prevalence-based,

The t(14;19)(q32;q13) is a rare recurring translocation found in B-cell lymphoproliferative malignancies, involving the Bcl-3 gene. This chromosomal translocation is often found in patients under the age of 50 and causes a more progressive disease. The Bcl-3 gene encodes a protein belonging to the IκB family of proteins, which tightly regulates NFκB signaling by acting as an activator or repressor

Plasma metabolomics holds potential for precision medicine, but limited information is available to compare the performance of such methods across multiple cohorts. We compared plasma metabolite profiles after an overnight fast in 11,309 participants of five population-based Swedish cohorts (50–80 years, 52% women). Metabolite profiles were uniformly generated at a core laboratory (Metabolon Inc.)

The congenital disorders of glycosylation (CDG) comprise a large and growing family of genetic disorders, characterized by hypoglycosylation of multiple glycoconjugates. Normal glycosylation requires a large number of enzymes and associated proteins acting in sequence to modify proteins and lipids by the addition of oligosaccharide side chains. This process is essential for normal development and

Background: Endometriosis can cause gastrointestinal symptoms that sometimes lead to incorrect diagnosis of irritable bowel syndrome (IBS). Receptors of thyroid-stimulating hormone (TSH) are found in the endometrium and are overexpressed in ectopic endometrium. The role of TSH receptors and thyroid hormones in the pathophysiology of endometriosis has therefore been discussed. No biomarker is avail

Background The dura mater has a permeable vasculature similar to that of peripheral organs, and is separated from the brain, which is enclosed within the arachnoid barrier. Fluid and solute transport across the arachnoid barrier between the subarachnoid space (SAS) and dura is crucial for brain waste clearance and immune surveillance, but few neuroimaging approaches can capture this dynamic proces

Objective: To characterize patients with protein-losing enteropathy (PLE) diagnosed before age 18 years within a nationwide Swedish Fontan cohort. Methods: Surgical records and medical charts were reviewed for all patients born after January 1, 1993, who underwent Fontan completion before January 1, 2021. Results: Among 573 reviewed patients, 28 (4.8%) developed PLE. The median time to onset of PL

Objectives: Both depression and suicidal behaviour have been associated with neuroinflammation. Galectin-3 (Gal-3), a protein involved in microglial activation, has been linked to pro-inflammatory cytokines and the severity of depressive symptoms. The extent to which peripheral levels of Gal-3 reflect neuroinflammation is unknown, as is the relationship between Gal-3 and suicidality. Methods: Bloo

Heart failure (HF) is a major contributor to global morbidity and mortality. While distinct clinical subtypes, defined by etiology and left ventricular ejection fraction, are well recognized, their genetic determinants remain inadequately understood. In this study, we report a genome-wide association study of HF and its subtypes in a sample of 1.9 million individuals. A total of 153,174 individual

This paper summarized the efforts performed to understand decay heat estimation from existing spent nuclear fuel (SNF), under the auspices of the Working Party on Nuclear Criticality Safety (WPNCS) of the OECD Nuclear Energy Agency. Needs for precise estimations are related to safety, cost, and optimization of SNF handling, storage, and repository. The physical origins of decay heat (a more correc

The Lund Botanical Society 2007-03-23 decided to launch a project with the following aims: 1) to map the frequency and distribution of all bryophytes in the province of Skåne, southernmost Sweden, thereby making way for future studies of changes in the flora, 2) to find and document as many sites as possible for nationally and regionally rare or endangered bryophytes and initiate conservation acti

The history of von Willebrand's disease (VWD) is fascinating because it demonstrates how good clinical observations, genetic studies and biochemical skills can improve basic understanding of a disease and its management. The continuous efforts of scientists and clinicians during the last 80 years have significantly improved the knowledge of von Willebrand factor (VWF) structure and function and th

The XMM-Large scale structure (XMM-LSS), XMM-Cosmological evolution survey (XMM-COSMOS), and XMM-Chandra deep field south (XMM-CDFS) surveys are complementary in terms of sky coverage and depth. Together, they form a clean sample with the least possible variance in instrument effective areas and point spread function. Therefore this is one of the best samples available to determine the 2-10 keV lu

2023-10-02 12:26 Syllabus for MESS62:2023 - Climate Change and Society https://canvas.education.lu.se/courses/24457/assignments/syllabus 1/7 Course syllabus Jump to today The syllabus page shows a table-oriented view of course schedule and basics of course grading. You can add any other comments, notes or thoughts you have about the course structure, course policies or anything else. To add some c

https://www.lucsus.lu.se/sites/lucsus.lu.se/files/2023-10/Schedule%20MESS62_2023%20-%20Climate%20Change%20and%20Society%202023.pdf - 2026-05-06

Popular Abstract in Swedish Ett högt fiberintag från grönsaker, frukt och sädesslag som havre och korn minskar risken för hjärt- och kärlsjukdomar och typ 2 diabetes. Havre och korn har en hög halt av lösliga kostfiber, så kallade beta-glukaner (beta-glukaner) och studier har visat att beta-glukaner har intressanta hälsoeffekter. Ett dagligt intag av beta-glukaner från havre eller korn kan sänka kSince soluble fibre in the form of the cereal beta-glucans found in oats and barley has been shown to have a positive effect on lipid and glucose metabolism, people at risk of developing cardiovascular diseases or diabetes might benefit from that a variety of palatable food products containing beta-glucans being available to them. The aim of the papers presented in the thesis was to evaluate the m

Mycorrhizal symbioses are formed between plant root systems and compatible fungal hyphae that results in a complex mixed structure. They are found in all ecosystems and with the majority of land plants such as forest trees or crops that are of commercial interest. Mutual exchange of nutrients between the two symbionts is central to the successful functioning of the symbioses. In order to understan

Popular Abstract in Swedish Fågelflyttning omfattar några av de mest fascinerande beteendemässiga anpassningarna vi finner i naturen. Hos många fågelarter flyttar unga fåglar obereoende av erfarna vuxna individer och kräver således medfödd information om flyttningsvägar, rastning och övervintringsområden. Denna information har visat sig bestå av ett nedärvt program som innehåller flyttningsriktninIn many species of birds juveniles migrate independently of experienced adults and thus have to rely on innate information about migratory routes and wintering area. This information is encoded as a set of inherited migratory directions and a timing schedule that provides information on when and how far to migrate. Apart from these remarkable behavioral adaptations, migration also requires several

Emerging knowledge of the role of atheroprotective immune responses in modulating inflammation and tissue repair in atherosclerotic lesions has provided promising opportunities to develop novel therapies directly targeting the disease process in the artery wall. Regulatory T (Treg) cells have a protective role through release of anti-inflammatory cytokines and suppression of auto-reactive effector

Despite the constant improvement of algorithms for automated brain tissue classification, the accurate delineation of subcortical structures using magnetic resonance images (MRI) data remains challenging. The main difficulties arise from the low gray-white matter contrast of iron rich areas in T1-weighted (T1w) MRI data and from the lack of adequate priors for basal ganglia and thalamus. The most