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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 Recurrent cervical cancer is a life-threatening disease, with limited treatment options available when disease progression occurs after first-line combination therapy. METHODS We conducted a phase 3, multinational, open-label trial of tisotumab vedotin as second- or third-line therapy in patients with recurrent or metastatic cervical cancer. Patients were randomly assigned, in a 1:1 rat
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
OBJECTIVES: We assessed the prevalence of neurodevelopmental disabilities (NDDs; cognition, cerebral palsy, vision/hearing, epilepsy), attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), developmental coordination disorder (DCD), behavior problems, and multimorbidity in a national cohort of children born extremely preterm (EPT, <27-week gestation) to provide a comprehe
Neuromorphic hardware can mitigate the unsustainable energy demand of artificial intelligence infrastructure. Photonic approaches provide high speed, low energy, and high connectivity but existing solutions have large circuit footprints which limits scaling potential and they miss key biological functions, like inhibition. We report a nano-optoelectronic artificial neuron with at least 100-fold re
Introduction: The prevalence of overweight and obesity in children and adolescents continues to rise, and there is a lack of long-term follow-up to clarify health and well-being trajectories into adolescence and adulthood. This study investigated anthropometry and quality of life (QoL) trajectories in 7-14-year-old vulnerable children three years after attending a lifestyle camp. Methods: Vulnerab
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
Objective: The aim of this study was to evaluate the contemporary population based incidence of acute lower limb ischaemia (ALI) and factors associated with major amputation/death at one year. Methods: In this retrospective observational study, in hospital, operation, radiological, and autopsy registries were scrutinised to capture 161 citizens of Malmö, Sweden, with ALI between 2015 and 2018. Age
Background: A novel generation of PET scanners based on silicon (Si)-photomultiplier (PM) technology has recently been introduced. Concurrently, there has been development of new reconstruction methods aimed at increasing the detectability of small lesions without increasing image noise. The combination of new detector technologies and new reconstruction algorithms has been found to increase image
BACKGROUND: Several studies have reported on the use of intraoperative parathyroid hormone (ioPTH) measurements during parathyroidectomy (PTX) for renal hyperparathyroidism (rHPT), but there is no consensus on whether it is helpful and, if so, what protocol should be used. Therefore, the literature was systematically reviewed to assess a correlation between ioPTH and early postoperative parathyroi
Background: Treatment of mentally disordered offenders (MDOs) is challenging as their behavior and clinical conditions can be traced to a complex constellation of major mental disorders, substance use and antisocial lifestyle. Finding subgroups of these offenders, which could guide treatment and risk assessment, is desirable. There are few long-term, prospective studies of risk factors for persist
Preterm birth carries a risk for adverse neurodevelopment. Cognitive dysfunctions, such as language disorders may manifest as atypical sound discrimination already in early infancy. As infant-directed singing has been shown to enhance language acquisition in infants, we examined whether parental singing during skin-to-skin care (kangaroo care) improves speech sound discrimination in preterm infant
Context. After more than 50 years, astronomical research still struggles to reconstruct the history of lithium enrichment in the Galaxy and to establish the relative importance of the various 7Li sources in enriching the interstellar medium (ISM) with this fragile element. Aims. To better trace the evolution of lithium in the Milky Way discs, we exploit the unique characteristics of a sample of op
