Understanding the molecular landscape of nonmuscle-invasive bladder cancer (NMIBC) is essential to improve risk assessment and treatment regimens. We performed a comprehensive genomic analysis of patients with NMIBC using whole-exome sequencing (n = 438), shallow whole-genome sequencing (n = 362) and total RNA sequencing (n = 414). A large genomic variation within NMIBC was observed and correlated with different molecular subtypes.
View Article and Find Full Text PDFThe thermophilic bacterium Rhodothermus marinus has mainly been studied for its thermostable enzymes. More recently, the potential of using the species as a cell factory and in biorefinery platforms has been explored, due to the elevated growth temperature, native production of compounds such as carotenoids and exopolysaccharides, the ability to grow on a wide range of carbon sources including polysaccharides, and available genetic tools. A comprehensive understanding of the metabolism of cell factories is important.
View Article and Find Full Text PDFJ Strength Cond Res
December 2024
Oddsson, HR, Friðgeirsdóttir, KÝ, Hafliðadóttir, L, Einarsson, IÞ, Kristjánsdóttir, H, and Saavedra, JM. Differences in anthropometric parameters, physical fitness, and kicking speed in young football players according to performance level, playing position, and relative age effect: a population-based study. J Strength Cond Res XX(X): 000-000, 2024-The objectives of this study were to determine (a) the differences, both in male and female players, in anthropometric parameters, physical fitness, and kicking speed based on the players' level and position on the field; (b) whether there is a relative age effect based on the players' level, and (c) whether there is a relationship between the relative age effect and the anthropometric parameters, physical fitness, and kicking speed parameters.
View Article and Find Full Text PDFBackground: Signal transducer and activator of transcription 6 (STAT6) is central to type 2 (T2) inflammation, and common noncoding variants at the STAT6 locus associate with various T2 inflammatory traits, including diseases, and its pathway is widely targeted in asthma treatment.
Objective: We sought to test the association of a rare missense variant in STAT6, p.L406P, with T2 inflammatory traits, including the risk of asthma and allergic diseases, and to characterize its functional consequences in cell culture.
Background: While parent-delivered pain management has been demonstrated to effectively reduce neonatal procedural pain responses, little is known about to what extent it is utilized. Our aim was to explore the utilization of parents in neonatal pain management and investigate whether local guidelines promote parent-delivered interventions.
Methods: A web-based survey was distributed to neonatal units worldwide.
Background And Aims: The rate of cardiac implantable electronic device (CIED) implantations and the need for transvenous lead extraction (TLE) are growing worldwide. This study examined a large Swedish cohort with the aim of identifying possible predictors of post-TLE mortality with special focus on systemic infection patients and frailty.
Methods: This was a single centre study.
Autoimmune thyroid disease (AITD) is a common autoimmune disease. In a GWAS meta-analysis of 110,945 cases and 1,084,290 controls, 290 sequence variants at 225 loci are associated with AITD. Of these variants, 115 are previously unreported.
View Article and Find Full Text PDFUnlabelled: In this retrospective cohort study of adult stem cell transplanted patients (n = 8463), a significant increased risk of both MOF and hip fractures was seen compared with the Swedish population and occurred in mean more than 2 years after stem cell transplantation.
Purpose: To explore the risk for osteoporotic fracture in patients who have undergone hematopoietic stem cell transplantation (HSCT) compared with the Swedish population.
Methods: The risk of osteoporotic fractures was determined in a retrospective population cohort study of adult (≥ 18 years) Swedish patients (n = 8463), who were transplanted with HSCT 1997-2016 and compared with all adults living in Sweden during the same period.
Purpose: The purpose of this study was to evaluate RB1 expression and survival across ovarian carcinoma histotypes and how co-occurrence of BRCA1 or BRCA2 (BRCA) alterations and RB1 loss influences survival in tubo-ovarian high-grade serous carcinoma (HGSC).
Experimental Design: RB1 protein expression was classified by immunohistochemistry in ovarian carcinomas of 7,436 patients from the Ovarian Tumor Tissue Analysis consortium. We examined RB1 expression and germline BRCA status in a subset of 1,134 HGSC, and related genotype to overall survival (OS), tumor-infiltrating CD8+ lymphocytes, and transcriptomic subtypes.
Objectives: Sleep is a key component of athletic recovery, yet training times could influence the sleep of athletes. The aim of the current study was to compare sleep difficulties in athletes across different training time groups (early morning, daytime, late evening, early morning plus late evening) and to investigate whether training time can predict sleep difficulties.
Methods: Athletes from various sports who performed at a national-level (n = 273) answered the Athlete Sleep Screening Questionnaire (ASSQ) along with several other questionnaires related to demographics, exercise training, and mental health.
Introduction: The aim of this study is to investigate the integration of movement and physical activity (MoPA) within Early Childhood Teacher Education (ECTE) policies across Denmark, Finland, Iceland, Norway, and Sweden. This knowledge can inform the development of ECTE policies and practices that promote MoPA in Early Childhood Education and Care (ECEC) in Nordic countries and other countries worldwide.
Methods: In this study, a Nordic cross-national network of researchers collaborated in investigating policy documents at the national and university levels, which govern the education of ECEC teachers.
Background: In the year 2020, breast cancer was the most common form of cancer worldwide. Roughly 70% of breast cancers are estrogen receptor-positive (ER+). MicroRNA-190b (miR-190b) has previously been reported to be upregulated in ER+ breast cancers.
View Article and Find Full Text PDFObjective: Evaluation of the hand function affected when replacing a malfunctioning hand by a bionic hand.
Design: Case report.
Subjects: One individual that wished for a better quality of life after unsatisfying hand function following a replantation.
Aims: 1) to map questions of pain from a survey to the International Classification of Functioning, Disability and Health (ICF) 2) to compare the impact of musculoskeletal pain on functioning based on the different components of the ICF in children with juvenile idiopathic arthritis (JIA) and age-matched peers.
Method: A cross-sectional case-control survey. A total of 28 children with JIA and 36 age-matched children participated.
Scores on the Patient Health Questionnaire-9 (PHQ-9) are frequently used to assess depression both in research and in clinical practice. The aim was to examine the validity of the PHQ-9 sum score by using Mokken scale analysis (Study I) and cognitive interviews (Study II) on the Icelandic version of PHQ-9. A primary care sample of 618 individuals was used in Study I.
View Article and Find Full Text PDFIt is often a challenge for a child to communicate their pain, and their possibilities to do so should be strengthened in healthcare settings. Digital self-assessment provides a potential solution for person-centered care in pain management and promotes child participation when a child is ill. A child's perception of pain assessment differs when it is assessed using digital or analog formats.
View Article and Find Full Text PDFObjective: Pituitary dysfunction following mild traumatic brain injury can have serious physical and psychological consequences, making correct diagnosis and treatment essential. To the best of our knowledge, this study is the first to study the prevalence of pituitary dysfunction following mild traumatic brain injury in an all-female population following detailed endocrinological work-up after screening for pituitary dysfunction in female athletes.
Design: This is a retrospective cohort study.
Objectives: To summarize recent evidence on the feasibility, acceptability, and effectiveness of videoconference (VC) group-based patient and caregiver education.
Methods: Systematic searches of the literature were conducted. Data was extracted on the characteristics of the studies and interventions and on the feasibility, acceptability, and effectiveness of the interventions.
Enhancer RNAs (eRNAs) are non-coding RNAs produced by transcriptional enhancers that are highly correlated with their activity. Using a capped nascent RNA sequencing (PRO-cap) dataset in human lymphoblastoid cell lines across 67 individuals, we identified inter-individual variation in the expression of over 80 thousand transcribed transcriptional regulatory elements (tTREs), in both enhancers and promoters. Co-expression analysis of eRNAs from tTREs across individuals revealed how enhancers are associated with each other and with promoters.
View Article and Find Full Text PDFSweating and heat buildup at the skin-liner interface is a major challenge for persons with limb loss. Liners made of heat-non-conducting materials may cause sweating of the residual limb and may result in liners slipping off the skin surface especially on a warm day or during high activity, causing skin breakdown and affecting limb health. To address this, we evaluated the efficacy of the vented liner-socket system (VS, Össur) compared to Seal-In silicone liner and non-vented socket (nVS, Össur) in reducing relative humidity (RH) during increased sweat.
View Article and Find Full Text PDFGlucocorticoid (GC) treatment suppresses the hypothalamic-pituitary-adrenal axis and can cause GC-induced adrenal insufficiency. In this study, we investigated the incidence of GC-induced adrenal insufficiency in patients receiving intermittent short-term high-dose oral GC treatment for newly diagnosed diffuse large B-cell lymphoma. Cosyntropin stimulation test was used to assess adrenal function at study entry (baseline), at 2 months (before the 5th cycle), and 6 months from baseline (3 months after the last cycle).
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