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Background: Knowledge is increasing about TSC-Associated Neuropsychiatric Disorders (TAND), but little is known about the potentially confounding effects of intellectual ability (IA) on the rates of TAND across age, sex, and genotype. We evaluated TAND in (a) children vs. adults, (b) males vs. females, and (c) TSC1 vs. TSC2 mutations, after stratification for levels of IA, in a large, internationa
Objective: The heterogeneity of systemic lupus erythematosus (SLE) constitutes clinical and therapeutical challenges. We therefore studied whether unrecognized disease subgroups can be identified by using autoantibody profiling together with HLA-DRB1 alleles and immunological and clinical data. Methods: An unsupervised cluster analysis was performed based on detection of 13 SLE-associated autoanti
Aims: Recent studies have suggested potential sex differences in treatment response to pharmacological therapies in heart failure (HF). We performed a systematic review and meta-analysis of studies comparing treatment effects between men and women with HF and reduced ejection fraction (HFrEF) using established guideline-directed medical therapy and other emerging pharmacological treatments. Method
Background and ObjectivesIdentifying a clinically meaningful change in cognitive test score is essential when using cognition as an outcome in clinical trials. This is especially relevant because clinical trials increasingly feature novel composites of cognitive tests. Our primary objective was to establish minimal clinically important differences (MCIDs) for commonly used cognitive tests, using a
Objective: To implement artificial neural network (ANN) algorithms for noninvasive lymph node staging (NILS) to a decision support tool and facilitate the option to omit surgical axillary staging in breast cancer patients with low-risk of nodal metastasis. Methods: The NILS tool is a further development of an ANN prototype for the prediction of nodal status. Training and internal validation of the
Importance: We know little about the transmission of obsessive-compulsive disorder (OCD) across generations. Objective: To evaluate the sources of parent-offspring transmission of OCD and familial cross-generational association with more typical anxiety disorders. Design, Setting, and Participants: This Swedish population register-based study analyzed data for offspring born in Sweden from 1960 to
Introduction: Glycolytic activity and hypoxia are associated with poor prognosis and radiation resistance. Including both the tumor uptake of 2-deoxy-2-[18 F]-fluorodeoxyglucose (FDG) and the proposed hypoxia tracer copper(II)diacetyl-bis(N4)-methylsemithio-carbazone (Cu-ATSM) in targeted therapy planning may therefore lead to improved tumor control. In this study we analyzed the overlap between s
Aims/hypothesis: Low birthweight is a risk factor for type 2 diabetes but it is unknown whether low birthweight is associated with distinct clinical characteristics at disease onset. We examined whether a lower or higher birthweight in type 2 diabetes is associated with clinically relevant characteristics at disease onset. Methods: Midwife records were traced for 6866 individuals with type 2 diabe
Adolescence is a period of significant physiological changes, and likely a sensitive window to chemical exposure. Few nation-wide population-based studies of chemical body burdens in adolescents have been published. In the national dietary survey Riksmaten Adolescents (RMA) 2016–17, over 13 chemical substance groups, including elements, chlorinated/brominated/fluorinated persistent organic polluta
BACKGROUND: This is an open-label, single-arm, single-center pilot study using 7-Tesla in vivo proton magnetic resonance spectroscopy (1H MRS) to measure brain cortical glutathione concentration at baseline before and during the use of oral fumarates as a disease-modifying therapy for multiple sclerosis. The primary endpoint of this research was the change in prefrontal cortex glutathione concentr
Introduction: Pelvic girdle pain during and after pregnancy is a major public health problem with significant daily problems for affected women and their families. There is now accumulating evidence that pregnancy-related pelvic girdle pain originates from the sacroiliac joints and the pubic symphysis as well as their extra-articular ligaments. However, the heritability of the disease remains to b
Background: Access to improved water and sanitation infrastructures are key determinants of health. The sub-Saharan African region in particular is lagging behind the ambitious goal of the 2030 Agenda for Sustainable Development to ensure universal access to improved and reliable water and sanitation for all (Sustainable Development Goal (SDG) 6). Large mining projects can promote economic growth
Background: Ethiopia is one of the sub-Saharan African countries most affected by the human immunodeficiency virus (HIV) epidemic and also by severe undernutrition, which is particularly prevalent among women. HIV infection, reproductive biology, and their role in society increase the vulnerability of women to malnutrition. Various factors including urbanization could cause differences in the nutr
Objective: Studies of the importance of perinatal factors for the development of irritable bowel syndrome (IBS) are sparse. We conducted a large national cohort study to examine perinatal and familial risk factors for IBS. Material and methods: A national cohort of 1,963,685 persons who were born in Sweden in 1973–1992 (identified from the Swedish Birth Registry) were followed up for adult (18 yea
Background: Sweden has closed all institutions and imposed legislation to ensure service and support for individuals with intellectual disability (ID). Understanding mortality among older individuals with ID is essential to inform development of health promotion and disease control strategies. We investigated patterns and risk of mortality among older adults with ID in Sweden. Methods: This retros
Importance: Twin studies have assessed sibling resemblance for major depression (MD) but cannot address sources of resemblance across generations. Objective: To clarify the relative importance of genetic and rearing effects on the parent-offspring resemblance for MD. Design: This Swedish population register-based study examined parents and children from the following 5 family types: intact (2 041
Background: Various plasma phosphorylated tau species have been shown to be associated with amyloid-β (Aβ) PET and Tau PET in Alzheimer’s disease (AD), but whether APOE ε4 affects the interaction between glial fibrillary acidic protein (GFAP) and phosphorylated tau (pTau), and whether a three-way interaction exists among APOE ε4, GFAP, and pTau that influences AD progression remain unclear. Method
BACKGROUND: Differences in cardiac sarcoidosis between racial groups remain understudied. Therefore, this study aims to explore race differences in patients with cardiac sarcoidosis. METHODS: We analyzed data from the Cardiac Sarcoidosis Consortium, an international registry including over 25 centers. The primary clinical outcome was a composite end point of all-cause mortality, left ventricular a
ObjectivesThis study investigates the impact of transitioning from restricted to 24/7 access to blood culture cabinets on blood culture processing.MethodA post-hoc retrospective study and a prospective laboratory simulation to evaluate the effects of delayed incubation were conducted. Data analysis evaluated clinical data comparing incubation-to-detection (ITD) and Collection-to-detection (CTD) in
