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BACKGROUND: Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence of rare disease manifestations and to the potential as
Background: The Scandinavian Neurotrauma Committee guideline (SNC-16) was developed and published in 2016, to aid clinicians in management of pediatric head injuries in Scandinavian emergency departments (ED). The objective of this study was to explore determinants for use of the SNC-16 guideline by Swedish ED physicians. Methods: This is a nationwide, cross-sectional, web-based survey in Sweden.
Background Fidanacogene elaparvovec, an adeno-associated virus (AAV) gene-therapy vector for hemophilia B containing a high-activity human factor IX variant (FIX-R338L/FIX-Padua), was associated with sustained factor IX activity in a phase 1-2a study. Methods We conducted a phase 3 open-label study of fidanacogene elaparvovec at a dose of 5×1011 vector genome copies per kilogram of body weight. Me
OBJECTIVES: The efficacy of long-term opioid therapy (LTOT) in treating patients with chronic non-cancer pain (CnCP) is questionable, and the potential risks of adverse effects are well established. The aims were as follows: (1) compare characteristics in patients exposed to LTOT vs non-exposed. (2) Regarding opioid-exposed patients, describe characteristics of patients with risk factors for opioi
Introduction: We have previously adapted a clinical linear accelerator (Elekta Precise, Elekta AB) for ultra-high dose rate (UHDR) electron delivery. To enhance reliability in future clinical FLASH radiotherapy trials, the aim of this study was to introduce and evaluate an upgraded beam control system and beam tuning process for safe and precise UHDR delivery. Materials and Methods: The beam contr
Background: The aim of this multicentre prospective observational study was to identify the incidence, patient characteristics, diagnostic pathway, management and outcome of acute mesenteric ischaemia (AMI). Methods: All adult patients with clinical suspicion of AMI admitted or transferred to 32 participating hospitals from 06.06.2022 to 05.04.2023 were included. Participants who were subsequently
OBJECTIVE: To explore associations of HLA class II genes (HLAII) with the progression of islet autoimmunity from asymptomatic to symptomatic type 1 diabetes (T1D).RESEARCH DESIGN AND METHODS: Next-generation targeted sequencing was used to genotype eight HLAII genes (DQA1, DQB1, DRB1, DRB3, DRB4, DRB5, DPA1, DPB1) in 1,216 participants from the Diabetes Prevention Trial-1 and Randomized Diabetes P
IntroductionThere is a gap in knowledge regarding development of endometriosis and adenomyosis lesions visible at transvaginal ultrasound. The objectives were to evaluate if women with symptoms suggestive of endometriosis or adenomyosis but normal ultrasound examination develop endometriosis or adenomyosis lesions visible at ultrasound over time and if alterations of symptoms over time are associa
BACKGROUND: Parkinson's disease (PD) is a chronic neurodegenerative disorder with limited knowledge about the normal function and effects of non-pharmacological therapies on the hypothalamic-pituitary-adrenal (HPA) axis. The aim of the study was to analyse the basal diurnal and total secretion of salivary cortisol in short- and long-term aspects of tactile massage (TM).DESIGN: Prospective, Control
Background: Sit-to-stand (STS) is one of the most commonly performed functional movements in a child’s daily life that enables the child to perform functional activities such as independent transfer and to initiate walking and self-care. Children with cerebral palsy (CP) often have reduced STS ability. The aim of this study was to describe STS performance in a national based total population of ch
Verksamhetsberättelse 2019_FÖRSLAGdocx 2020-02-03 Verksamhetsberättelse 2019 Körcentrum Syd Musikhögskolan i Malmö Lunds universitet Inledning Nedanstående verksamhetsberättelse för år 2019 i Körcentrum Syd har fastställts av Körcentrum Syds styrelse, 2020-02-03. Körcentrum Syd är en centrumbildning inrättad av Lunds Universitet tillhörande Musikhögskolan i Malmö. I Körcentrum Syds styrelse är föl
https://www.korcentrumsyd.lu.se/sites/korcentrumsyd.lu.se/files/verksamhetsberattelse_2019_kcs.pdf - 2026-07-17
The human L3MBTL gene is located in 20q12, a region that is commonly deleted in myeloproliferative disorders (MPD), myelodysplastic syndromes (MDS), and acute myeloid leukemia (AML). L3MBTL is highly homologous to the D-lethal(3) malignant brain tumor [D-l(3)mbt] gene, which is a putative tumor-suppressor gene (TSG) identified in Drosophila and which is closely related to the Drosophila sex combs
Variations in molybdenum isotopic composition, spanning the range of similar to 2.3 parts per thousand in the terms of Mo-97/Mo-95 ratio, have been measured in sediment cores from three lakes in northern Sweden and north-western Russia. These variations have been produced by both isotopically variable input of Mo into the lakes due to Mo isotopic heterogeneity of bedrock in the drainage basins and
Background The perception of surgery as expensive and complex might be a barrier to its widespread acceptance in global health efforts. We did a systematic review and analysis of cost-effectiveness studies that assess surgical interventions in low-income and middle-income countries to help quantify the potential value of surgery. Methods We searched Medline for all relevant articles published betw
The Major Intrinsic Proteins, MIPs, constitute a large, ancient superfamily of membrane proteins that are found in all kingdoms of life. Most MIPs facilitate passive diffusion of water across biological membranes (aquaporins), although many channels are also permeable for glycerol and other small uncharged solutes, (aquaglyceroporins). Other substrates reported for specific MIPs are anions, carbon
Background and aims. Adverse events (AE) leading to discontinuation or dose-reduction of thiopurine therapy (TP) occur in 9-28% of patients with inflammatory bowel disease. 6-Thioguanine (6-TG) has been proposed as an alternative treatment in patients intolerant for azathioprine (AZA), but some concerns have been raised about drug safety. Methods. We evaluated in a prospective manner the tolerance
Background The alpha-emitter radium-223 (Ra-223) is a bone-seeking radionuclide studied as a new treatment for patients with bone metastases from hormone-refractory prostate cancer. We aimed to study mature outcomes from a randomised, multicentre, phase II study of Ra-223. Methods Patients with hormone-refractory prostate cancer and bone pain needing external-beam radiotherapy were assigned to fou
A REE-bearing fluorosilicate from the Tommot REE-Nb deposit in Yakutia, Russia, described without a name in 1966, is characterized here as a new species, proshchenkoite-(Y), of the vicanite group of borosilicates. Wavelength-dispersive electron probe analyses gave the following empirical formula: (Y3.70REE7.54Ca1.55Na1.16Mn0.77Th0.10Pb0.01)(Sigma 14.83)(Fe0.832+M0.15Ti0.02)(Sigma 1.00)Ca-1.00 (P0.
ims In atrial fibrillation (AF), a relation between electrocardiogram (ECG) fibrillatory wave amplitude and thrombus formation has been sought for long with conflicting results. In contrast, the possible relation between atrial fibrillatory rate obtained from the surface ECG and left atrial thrombus formation in patients with AF is unknown and was consequently evaluated in this study. Methods and
