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Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke

Background and purpose Polymorphisms in coagulation genes have been associated with early-onset ischemic stroke. Here we pursue an a priori hypothesis that genetic variation in the endothelial-based receptors of the thrombomodulin-protein C system (THBD and PROCR) may similarly be associated with early-onset ischemic stroke. We explored this hypothesis utilizing a multistage design of discovery an

Anabolic and antiresorptive actions of locally delivered bisphosphonates for bone repair

During the last decades, several research groups have used bisphosphonates for local application to counteract secondary bone resorption after bone grafting, to improve implant fixation or to control bone resorption caused by bone morphogenetic proteins (BMps). We focused on zoledronate (a bisphosphonate) due to its greater antiresorptive potential over other bisphosphonates. Recently, it has beco

Osteopontin and disease activity in patients with recent-onset systemic Lupus Erythematosus : Results from the SLICC Inception Cohort

Objective. In cross-sectional studies, elevated osteopontin (OPN) levels have been proposed to reflect, and/or precede, progressive organ damage and disease severity in systemic lupus erythematosus (SLE). We aimed, in a cohort of patients with recent-onset SLE, to determine whether raised serum OPN levels precede damage and/or are associated with disease activity or certain disease phenotypes. Met

Test administrator effects on cognitive performance in a longitudinal study of ageing

In longitudinal studies, changes in participants’ cognitive performances can partly be attributed to variations in the testing situation (testing specific factors), such as, different test administrators or different testing environments. Focusing on test administrator influence, testing specific factors were examined in a Swedish longitudinal study of ageing. Test scores from 6,686 examinations r

The Swedish Neonatal Quality Register – contents, completeness and validity

Aim: To describe the Swedish Neonatal Quality Register (SNQ) and to determine its completeness and agreement with other registers. Methods: SNQ collects data for infants admitted to neonatal units during the first four postnatal weeks. Completeness and registers’ agreement were determined cross-linking SNQ data with Swedish population registers (the Inpatient, Medical Birth and Cause of Death Regi

Noninvasive fetal RHD genotyping to guide targeted anti-D prophylaxis–an external quality assessment workshop

Background and Objectives: Fetal RHD genotyping of cell-free fetal DNA from RhD-negative pregnant women can be used to guide targeted antenatal and postnatal anti-D prophylaxis for the prevention of RhD immunization. To assure the quality of clinical testing, we conducted an external quality assessment workshop with the participation of 28 laboratories. Materials and Methods: Aliquots of pooled ma

The Oncogene ECT2 Contributes to a Hyperplastic, Proliferative Lung Epithelial Cell Phenotype in Idiopathic Pulmonary Fibrosis

Idiopathic pulmonary fibrosis (IPF) and lung cancer represent progressive lung diseases with a poor prognosis. IPF represents a risk factor for the development of lung cancer, and the incidence of lung cancer is increased in patients with IPF. Disease pathogenesis of IPF and lung cancer involves common genetic alterations, dysregulated pathways, and the emergence of hyperplastic and metaplastic ep

Contact activation products are new potential biomarkers to evaluate the risk of thrombotic events in systemic lupus erythematosus

Introduction: Patients with systemic lupus erythematosus (SLE) have persistent platelet activation and an increased risk of thrombotic events, which cannot be accounted for by traditional cardiovascular risk factors. Factor (F)XII has a potentially important role in thrombus formation and is triggered by activated platelets. We therefore asked whether the contact system is involved in inflammation

The non-haemostatic role of platelets in systemic lupus erythematosus

Dysregulation of lymphocyte function, accumulation of autoantibodies and defective clearance of circulating immune complexes and apoptotic cells are hallmarks of systemic lupus erythematosus (SLE). Moreover, it is now evident that an intricate interplay between the adaptive and innate immune systems contributes to the pathogenesis of SLE, ultimately resulting in chronic inflammation and organ dama

Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C > T and EX6 del) in the PARK2 gene

Mutations in the PARK2 gene, which encodes PARKIN, are the most frequent cause of autosomal recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line from a 78-year-old patient carrying a compound heterozygous mutation (c.823C > T and EX6del) in the PARK2 gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to

Mapping challenges and opportunities for aggregating information on systemic risks from multiple stakeholders

The Sendai Framework for Disaster Risk Reduction highlights the importance of all-hazard and multi-stakeholder approaches. This requires exchange and integration of risk information across sectorial and administrative borders. This paper focuses on challenges and prerequisites for aggregating risk information from multiple stakeholders in disaster risk management systems. Aggregation is here under

Comorbidity between pain and mental illness - Evidence of a bidirectional relationship

Background: Pain from various locations in the body and mental illness are common and the comorbidity between the two is well-known although the temporal relationship remains to be determined. Our aim was to follow patients over time to study if pain (here dorsalgia/abdominal pain) or fibromyalgia lead to an increased risk of developing mental illness (here depression/anxiety) and/or the reverse,

Patient registries for home oxygen research and evaluation

Randomized clinical trials are the preferred study design to address key research questions about the benefits or harms of interventions. However, randomized trials of oxygen therapy are difficult to conduct and have limitations. The purpose of this article is to offer our view on the potential use of patient registries in the field of home oxygen in COPD as an alternative to randomized trials by

Driving Neuronal Differentiation through Reversal of an ERK1/2-miR-124-SOX9 Axis Abrogates Glioblastoma Aggressiveness

Identifying cellular programs that drive cancers to be stem-like and treatment resistant is critical to improving outcomes in patients. Here, we demonstrate that constitutive extracellular signal-regulated kinase 1/2 (ERK1/2) activation sustains a stem-like state in glioblastoma (GBM), the most common primary malignant brain tumor. Pharmacological inhibition of ERK1/2 activation restores neurogene

Neutrophils - Important Communicators in Systemic Lupus Erythematosus and Antiphospholipid Syndrome

Systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS) are two autoimmune diseases that can occur together or separately. Insights into the pathogenesis have revealed similarities, such as development of autoantibodies targeting subcellular antigens as well as a shared increased risk of cardiovascular morbidity, potentially due to mutual pathologic mechanisms. In this review, we wi

Peripheral Nervous System Disease in Systemic Lupus Erythematosus : Results From an International Inception Cohort Study

Objective: To determine the frequency, clinical characteristics, associations, and outcomes of different types of peripheral nervous system (PNS) disease in a multiethnic/multiracial, prospective inception cohort of systemic lupus erythematosus (SLE) patients. Methods: Patients were evaluated annually for 19 neuropsychiatric (NP) events including 7 types of PNS disease. SLE disease activity, organ

Consultation prevalence among children, adolescents and young adults with pain conditions : A description of age- And gender differences

BACKGROUND: Pain is a common complaint presented in healthcare, but most epidemiological pain research has focused either on single pain conditions or on the adult population. The aim of this study was to investigate the 2017 consultation prevalence of a wide range of pain conditions in the general population of young people.METHODS: We used the Skåne Healthcare Register, covering prospectively co

Cardiovascular Diseases And Psychiatric Disorders During The Diagnostic Workup Of Suspected Hematological Malignancy

Background: Little attention has been given to the risk of cardiovascular and psychiatric comorbidities during the clinical evaluation of a suspected hematological malignancy.Methods: Based on Skåne Healthcare Register, we performed a population-based cohort study of 1,527,449 individuals residing during 2005-2014 in Skåne, Sweden. We calculated the incidence rate ratios (IRRs) of cardiovascular d