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PURPOSE:: To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 mutations. DESIGN:: Observational study. PARTICIPANTS:: Four family members. METHODS:: Clinical examinations included full-field electroretinogram (ffERG) after standard (30-minute) and prolo
Background: Childhood cancer survivors (CCS) are at an increased risk for cardiovascular diseases (CVD). It was the primary aim of this study to determine different measures of cardiac, carotid, lipid, and apolipoprotein status in young adult CCS and in healthy controls. Methods: Cardiac and common carotid artery (CCA) structure and function were measured by ultrasonography. Lipids and apolipoprot
Atherosclerotic cardiovascular disease (ACVD) is the leading cause of death worldwide. This study aimed to investigate the association between diet and lifestyle factors, beyond traditional risk factors, and the risk of incident ACVD. The Malmö Diet and Cancer study included 30,446 middle-aged individuals. Baseline examinations including a dietary assessment, questionnaire and interviews, were per
Background: Fishing communities around Lake Victoria in sub-Saharan Africa have been characterised as a population at high risk of HIV-infection. Methods: Using data from a cohort of HIV-positive individuals aged 13–49 years, enrolled from 5 fishing communities on Lake Victoria between 2009–2011, we sought to identify factors contributing to the epidemic and to understand the underlying structure
Objective: To determine, in a large, multiethnic/multiracial, prospective inception cohort of patients with systemic lupus erythematosus (SLE), the frequency, attribution, clinical, and autoantibody associations with lupus psychosis and the short- and long-term outcomes as assessed by physicians and patients. Methods: Patients were evaluated annually for 19 neuropsychiatric (NP) events including p
Background: Diastolic dysfunction (DD) is increasingly common. However, its metabolic determinants are poorly known. This study aims to determine which metabolic and inflammatory features predict DD in initially healthy adults. Methods: We prospectively analyzed the association between metabolic features and DD in 728 initially healthy adults aged 30–60 from Eastern France enrolled in the STANISLA
Importance: High gluten intake during childhood may confer risk of celiac disease. Objectives: To investigate if the amount of gluten intake is associated with celiac disease autoimmunity and celiac disease in genetically at-risk children. Design, Setting, and Participants: The participants in The Environmental Determinants of Diabetes in the Young (TEDDY), a prospective observational birth cohort
In recent years, the data science and remote sensing communities have started to align due to user-friendly programming tools, access to high-end consumer computing power, and the availability of free satellite data. In particular, publicly available data from the European Space Agency’s Sentinel missions have been used in various remote sensing applications. However, there is a lack of studies th
Breeding Ospreys were studied in southern Sweden and 13 birds were tracked by satellite telemetry on autumn migration to the African wintering grounds. This was supplemented with studies of migrating birds at Falsterbo and radar trackings From southern Sweden. Females generally left the nest site 2-3 weeks ahead of males and juveniles. Among males, failed bleeders migrated significantly earlier th
Context. Stellar evolution models predict that internal mixing should cause some sodium overabundance at the surface of red giants more massive than ~1.5-2.0 M⊙. The surface aluminium abundance should not be affected. Nevertheless, observational results disagree about the presence and/or the degree of Na and Al overabundances. In addition, Galactic chemical evolution models adopting different stel
BACKGROUND: Obesity is strongly associated with the development of cardiovascular disease (CVD). However, the heterogenous nature of obesity in CVD-risk is still poorly understood. We aimed to explore novel CVD biomarkers and their possible association with presumed unhealthy obesity, defined as hospitalized subjects with obesity (HO).METHODS: Ninety-two proteins associated with CVD were analyzed
Obstructive sleep apnea (OSA) is common in adults with coronary artery disease (CAD). OSA that occurs predominantly during rapid-eye movement (REM) sleep has been identified as a specific phenotype (REM-predominant OSA) in sleep clinic cohorts. We aimed to examine the association of REM-predominant OSA with excessive sleepiness, functional outcomes, mood, and quality of life in a CAD cohort, of wh
Here we discuss the current state of knowledge of terrestrial planet formation from the aspects of different planet formation models and isotopic data from 182Hf-182W, U-Pb, lithophile-siderophile elements, 48Ca/44Ca isotope samples from planetary building blocks, recent reproduction attempts from 36Ar/38Ar, 20Ne/22Ne, 36Ar/22Ne isotope ratios in Venus’ and Earth’s atmospheres, the expected solar
OBJECTIVE: To determine the efficacy and safety of low carbohydrate diets (LCDs) and very low carbohydrate diets (VLCDs) for people with type 2 diabetes. DESIGN: Systematic review and meta-analysis. DATA SOURCES: Searches of CENTRAL, Medline, Embase, CINAHL, CAB, and grey literature sources from inception to 25 August 2020. STUDY SELECTION: Randomized clinical trials evaluating LCDs (<130 g/day or
Background: Sexual harassment (SH) in the workplace is prevalent and associated with poor health. Universities are large workplaces with complex formal and informal power relations, which may influence the prevalence of SH. Although employees and students share the university context, few studies on SH have included both groups. The overall aim of the study was to investigate SH among employees an
Background: Physical inactivity is a main cause of childhood obesity which tracks into adulthood obesity, making it important to address early in life. Physical activity on prescription (PAP) is an evidence-based intervention that has shown good effect on physical activity levels in adults, but has not been evaluated in children with obesity. This project aims to evaluate the prerequisites, determ
Background: Real-world data on long-term outcomes of vedolizumab (VDZ) are scarce. Objective: To assess long-term outcomes (up to 3 years) of VDZ in treating inflammatory bowel disease (IBD). Design: A nationwide, prospective multicentre extension of a Swedish observational study on VDZ assessing Effectiveness And Healthcare resource utilization in patients with IBD (SVEAH). Methods: After re-cons
Background: Resuscitative endovascular balloon occlusion of the aorta (REBOA) is an emerging and potentially life-saving procedure, necessitating qualified operators in an increasing number of centres. The procedure shares technical elements with other vascular access procedures using the Seldinger technique, which is mastered by doctors not only in endovascular specialties but also in trauma surg
Background: A comprehensive assessment of morbidity after allogeneic bone marrow transplantation (BMT) performed in childhood remains understudied. Methods: Seven hundred eighty-nine allogeneic BMT recipients who had survived ≥2 years after BMT performed between 1974 and 2014 at age <22 years and 690 siblings completed a 255-item survey self-reporting sociodemographics and chronic health condition
Background Coronary artery disease is one of the most common causes of death. A common cardiac examination is to give a visualization of the myocardial blood flow by injecting a radio pharmaceutical and detect the radiation with a camera. The camera has for decades been using thallium doped sodium iodide (NaI(Tl)) as the detector material. New detector materials have been developed because of the
