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Introduction: In 2011, a homozygous mutation in GOSR2 (c.430G > T; p. Gly144Trp) was reported as a novel cause of Progressive Myoclonus Epilepsy (PME) with early-onset ataxia. Interestingly, the ancestors of patients originate from countries bound to the North Sea, hence the condition was termed North Sea PME (NSPME). Until now, only 20 patients have been reported in literature. Here, we provide a

Proliferating cell nuclear antigen (PCNA) is required for completion of the DNA synthesis step of DNA replication as well as nucleotide excision repair (NER) of damaged DNA. We investigated the expression of PCNA mRNA and the levels of PCNA protein in the adult rat hippocampus following normo- and hypothermic global forebrain ischemia. Hypothermia protected the CA1 neurons from ischemic damage. A

Background: Changes in the autonomic nervous system (ANS) tone are present before, during, and after episodes of atrial fibrillation (AF). Atrial fibrillatory rate (AFR, the inverse of the atrial cycle length) has been used as a surrogate marker for local refractoriness and is a key characteristic of the fibrillatory process in patients with AF. Aim of this study is to assess changes in AFR, as an

Context: Aggressive pituitary tumors (APTs) are characterized by unusually rapid growth and lack of response to standard treatment. About 1% to 2% develop metastases being classified as pituitary carcinomas (PCs). For unknown reasons, the corticotroph tumors are overrepresented among APTs and PCs. Mutations in the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, regulating chrom

Several recently published trials investigate novel therapies for relapsed/refractory diffuse large B-cell lymphoma (R/R DLBCL). To estimate the benefit of these therapies in the real-world setting, comprehensive data on patients treated in clinical routine are needed. We report outcomes for 736 R/R DLBCL patients identified among all curatively treated DLBCL patients in Sweden in the period 2007–

Angiogenesis is a prognostic indicator in primary breast cancer regulated by specific angiogenic factors and their receptors. Vascular endothelial growth factor-A (VEGF-A), so far considered the most important, acts through dimerization of the receptor VEGFR2/KDR within the receptor tyrosine kinase family of VEGF receptors. In order to study the interplay between VEGF-A and VEGFR2/KDR in breast ca

Guidelines for Preservation and Disposal of Research Documents at theJoint Faculties of Humanities and Theology COVER PAGE Cover page Type of document: Guidelines Definition of the type of regulatory document: Guidelines establish how someone must or should act in the area covered by the guidelines. A “must” rule is to be complied with, whereas the nature of a “should” rule is more of a strong rec

https://www.staff.lu.se/sites/staff.lu.se/files/2025-02/Riktlinjer-forskningshandlingar-Humanistiska-och-teologiska-fak-eng%20tillg.pdf - 2026-05-26

The updated Consolidated Health Economics Evaluation Reporting Standards, CHEERS 2022, is considered the most comprehensive publication to assess reporting quality of economic evaluations (EEs) incorporating criteria of trial- and model-based studies, including emerging methods. However, it holds multiple criteria per item without clear decision rules on minimum requirements for complete reporting

Med nya läkemedel, hudvårdsprodukter, stekpannor och bekämpningsmedel följer också att allt fler föroreningar släpps ut i naturen via bland annat jordbruk samt avlopp från industrier och sjukhus. Dessa föroreningar sprids till våra vattendrag, påverkar de organismer som lever där negativt och kan även förorena vårt dricksvatten. Ett läkemedel som släpps ut i naturen och som kan ses som särskilt pOrganic contaminants are present in aquatic environments and there is a need for water treatment techniques that are both efficient and practically implementable. Antibiotics are particularly problematic organic contaminants, as insufficient removal can contribute to the spread of antibiotic resistance, which can affect essential bacteria for ecosystems and cause untreatable infections in humans.

Background: We aimed to determine corticosteroid (CS) use in paediatric inflammatory bowel disease (PIBD, < 18 years), which remains common despite recommendations for limited use and the emergence of steroid-sparing therapies. Methods: We conducted a study of all children in Sweden diagnosed with CD (n = 2460) or UC (n = 2470) in 2006–2022. Nationwide health registers provided annual individual-l

Vad händer med den kirurgiska förmågan när man sänker bildfrekvensen? En studie för utveckling av autonoma kirurgiska robotar med människan som utgångspunkt. Varje år föds cirka 1.3 miljoner barn med hjärtfel och cirka 25% behöver vård inom ett år för att överleva. Då det råder global brist på barnhjärtkirurger, hinner inte alla barn få den vård de behöver. Det kan dessutom ta en kirurg 15-20 år A shortage of pediatric heart surgeons across the world limits the available surgical interventions, leading to long wait times and higher risk of mortality. The use of robotic surgery and its advantages may help address this issue, and the Collaborative Articial Intelligence Sur- gical Assistance-project is a starting point to develop an autonomous robotic surgical assistant. However, the video f

Identification of genomic rearrangements by microarrays or short-read sequencing frequently lacks information about the exact architecture and breakpoints of variants due to technical limitations. Independent verification of complex structural variants (SVs) is often performed using custom targeted assays, making confirmation of clinically relevant findings time consuming and laborious. In this st

Background: Standardized definitions of autoimmune disease (AD) are lacking. Therefore, we aim to propose a definition of AD for register-based research and estimate the burden of AD in Sweden as registered in the National Patient Register (NPR) from 1980 to 2023. Methods: Leveraging the NPR, we defined AD as having at least two relevant International Classification of Diseases (ICD) codes represe

Objectives: SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss-of-function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes. Here we describe a novel dominant variant in SLC4A4 in patients wit

Diarrhea-predominant irritable bowel syndrome (IBS-D) is a multifactorial disorder involving gut-brain axis dysregulation, altered barrier integrity, microbial imbalance, and stress-related mechanisms, with limited nutritional strategies targeting these pathways. Tannin-rich extracts may exert barrier-protective, microbiota-modulating, and stress-related effects. In a prospective before-after pilo

Individual differences in animal behavior can be attributed to genetic as well as non-genetic influences. One mechanism by which the behavioral phenotype of an individual can be shaped is via transmission of maternal sex steroids. In this study, we examined the role of yolk testosterone (T) in controlling neophobia in 9-month-old, sexually mature zebra finches (Taeniopygia guttata). Offspring hatc

The expression of inducible and constitutive heme oxygenase and biliverdin reductase was studied in normal and cultured peripheral ganglia from adult rats, using immunocytochemistry and in situ hybridization. Dramatic changes were induced by one to two days' culturing of dorsal root ganglia, nodose ganglia, otic ganglia, sphenopalatine ganglia and superior cervical ganglia. An up-regulation of ind

Objective: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare hereditary disorder characterized by hyperphosphataemia, inappropriately normal or elevated 1,25-dihydroxyvitamin D-3 and localized painful cortical hyperostosis. HHS was shown to be caused by inactivating mutations in GALNT3, encoding UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-tran

The aim of this study was to investigate the possible role of STAT4 gene in the genetic predisposition to systemic sclerosis (SSc) susceptibility or clinical phenotype. A total of 1317 SSc patients [896 with limited cutaneous SSc (lcSSc) and 421 with diffuse cutaneous SSc (dcSSc)] and 3113 healthy controls, from an initial case-control set of Spanish Caucasian ancestry and five independent cohorts