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Observational studies suggest that direct contact from healthcare to at-risk relatives may increase genetic counselling (GC) uptake as compared to family-mediated risk disclosure, but randomised controlled trials (RCTs) are lacking. This study assessed whether the offer of direct letters to relatives at risk of hereditary breast and ovarian cancer (HBOC) or Lynch syndrome increases GC uptake compa
INTRODUCTION: Low birth weight is an important measure of the health of pregnant women and newborns. We investigated the prevalence of low birth weights in India over nearly three decades to assess trends and convergence across states.METHODS: Data came from five waves of the National Family Health Survey (1992-93 to 2019-21). The prevalence of low birth weight was estimated. To explore the sensit
Background In congenital aortic stenosis (CAS), commissurotomy is an option in patients not suitable to receive a valve prosthesis. However, there is often a need for future additional interventions on the aortic valve. The fate of the aortic valve is, however, essentially unknown. This study reports the need for reinterventions after surgical commissurotomy, based on a national register. Material
Background: There are currently no molecular tests to identify individual breast cancers where radiotherapy (RT) offers no benefit. Profile for the Omission of Local Adjuvant Radiotherapy (POLAR) is a 16-gene molecular signature developed to identify low-risk cancers where RT will not further reduce recurrence rates. Methods: An individual participant data meta-analysis was performed in 623 patien
BACKGROUND: Despite the significant personal and societal burden of tic disorders (TDs), treatment outcomes remain modest, necessitating a deeper understanding of their etiology. Family history is the biggest known risk factor, and identifying risk genes could accelerate progress in the field.METHODS: Expanding upon previous sample size limitations, we added 4800 new TD cases and 971,560 controls
BACKGROUND: In Sweden, managers, individuals working within education, and parents with small children are three groups at high risk for sick leave due to stress-related mental health problems. However, the combined risk of being a parent and manager working within education, i.e., as a principal, on individual work and life satisfaction is not well understood or well-described in the scientific l
BACKGROUND: The first 35 years of pediatric heart transplantation (pHTx) in Sweden were investigated to determine outcomes following listing and transplantation, investigate sub-populations of recipients, and describe the presence of donor-specific antibodies (DSA) in a contemporary cohort.METHODS: Swedish children < 18 years, listed from 1/1/1989 to 31/12/2023, were included. The cohort was split
Background: Racial differences in metastatic castration-resistant prostate cancer (mCRPC) genomes have not yet been fully studied. We aimed to investigate transcriptomic, mutational, and clinical differences by race in a large multi-institutional cohort of men with mCRPC. Methods: Genomic and clinicopathologic data from four mCRPC tumor biopsy cohorts were obtained and aggregated. Gene set enrichm
Objectives: To examine the effects of thiopurine exposure during pregnancy on intrahepatic cholestasis of pregnancy (ICP) in systemic lupus erythematosus (SLE) and inflammatory bowel disease (IBD) pregnancies using nationwide data from Swedish healthcare registers. Methods: This register-based cohort study included all singleton pregnancies with prevalent SLE or IBD in Sweden, 2007-2022. Exposure
Background: Cognitive impairment in trauma-affected refugees is often unassessed due to the absence of suitable cross-cultural neuropsychological measures, the high prevalence of psychiatric symptoms, and the need for interpreter mediation. This poses both a clinical challenge and a health inequality for trauma-affected refugees who are left without access to much needed rehabilitation. Untreated
Background: The aim of this study was to develop a method for personalized training of Deep Neural Networks by means of an MRI simulator to improve MOLLI native T1 estimates relative to conventional fitting methods. Methods: The proposed Personalized Training Neural Network (PTNN) for T1 mapping was based on a neural network which was trained with simulated MOLLI signals generated for each individ
OBJECTIVE: To investigate the occurrence of meniscal calcifications in individuals with and without knee osteoarthritis (OA). Additionally, we aim to identify the specific types of calcifications: basic calcium phosphate (BCP) and calcium pyrophosphate dihydrate (CPP).METHOD: We analysed 82 meniscal posterior horn samples (medial and lateral) collected from 41 human subjects. Among them, 20 indivi
Background: Women with intellectual disability (ID) may encounter barriers to exercising reproductive agency, self-care during pregnancy, and accessing healthcare to optimize pregnancy outcomes. However, there is to date little evidence to guide policy and practice. We aim to fill this identified knowledge gap by examining pregnancy outcomes among women with ID in comparison with women from the ge
Gait Speed Reserve (GSR) expresses a difference between fast and comfortable gait speed and may have an impact on everyday functioning. It was also hypothesized as a useful proxy measure of physiological reserve. However, height-normalizing values of GSR and its associated factors have not been evaluated in a general population of older adults. Therefore, we aimed to investigate the distribution o
Objective To compare experiences of the second stage of labour in women randomised to assistance by one or by two midwives to reduce severe perineal trauma (SPT). Design Analysis of a secondary outcome within the Swedish Oneplus multicentre randomised trial. Setting Five obstetric units in Sweden between December 2018 and March 2020. Participants Inclusion criteria in the Oneplus trial were women
Background: Patients with advanced ovarian cancer (AOC) undergoing surgery are often subjected to red blood cell (RBC) transfusions. Both anemia and RBC transfusion are associated with increased morbidity. The aim was to evaluate patient recovery after the implementation of patient blood management (PBM) strategies.Methods: This retrospective cohort study included 354 patients with AOC undergoing
PURPOSE: Distal ulnar Hounsfield unit (HU) measurements obtained from computed tomography (CT) scans of the wrist can be used to accurately screen for low bone mineral density. It is unknown whether HU measurements can also predict the risk of future fragility fractures. Therefore, the purpose of this study was to determine if the HU values of the distal ulna correlate to fragility fracture risk.M
To meet climate targets, expanding Populus spp. tree cultivation is proposed as a potential biomass feedstock, especially on agricultural land that does not come into conflict with food production. However, biomass potential assessments typically overlook landowners' perspectives, risking a gap between theoretical potentials and realisation. Here, we test empirical consequences of two hypotheses b
