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Myelodysplastic/myeloproliferative neoplasms, unclassifiable (MDS/MPN-U) are rare genetically heterogeneous hematologic diseases associated with older age and a poor prognosis. If the disease progresses into acute myeloid leukemia (AML), it is often refractory to treatment. To gain insight into genetic alterations associated with disease progression, whole exome sequencing and single nucleotide po
Background The relationship between meniscal tears and other joint pathologies with patient-reported symptoms is not clear. We investigated associations between structural knee pathologies identified at surgery with preoperative knee pain and function in patients undergoing arthroscopic meniscal surgery. Methods This study included 443 patients from the Knee Arthroscopy Cohort Southern Denmark (KA
The Netherlands is a small country with a relatively large population which experienced a rapid rate of land use changes from 2000 to 2008 years due to the industrialization and population increase. Land use change is especially related to the urban expansion and open agriculture reduction due to the enhanced economic growth. This research reports an investigation into the application of remote se
This study explores the application of spatial modelling techniques to generate susceptibility maps for a neglected zoonotic disease, visceral leishmaniasis (VL), in an endemic area in southern Caucasus that includes Iran, Armenia and Azerbaijan. The social and physical environment of southern Caucasus has been mainly characterized by the presence of several factors that are strongly associated wi
Background-Diabetes mellitus (DM) and cardiovascular disease are associated with dyslipidemia, but the detailed lipid molecular pattern in both diseases remains unknown. Methods and Results-We used shotgun mass spectrometry to determine serum levels of 255 molecular lipids in 316 controls, 171 DM, and 99 myocardial infarction (MI) events from a cohort derived from the Malmö Diet and Cancer study.
Red blood cell (RBC) traits are important heritable clinical biomarkers and modifiers of disease severity. To identify coding genetic variants associated with these traits, we conducted meta-analyses of seven RBC phenotypes in 130,273 multi-ethnic individuals from studies genotyped on an exome array. After conditional analyses and replication in 27,480 independent individuals, we identified 16 new
OBJECTIVES: Post-stroke cognitive impairment (PSCI) has considerable impact on patients and society. However, long-term studies on PSCI are scarce and may be influenced by assessment methods and selection bias. We aimed to (i) assess the prevalence of long-term PSCI; (ii) compare two common cognitive assessment instruments; and (iii) compare cognitive function of long-term stroke survivors with no
The role of blood pressure (BP) changes in dementia is debatable. We aimed to analyse how resting and postural BP changes relate to incident dementia over a long-term follow-up. In the prospective population-based Malmö Preventive Project, 18,240 study participants (mean age: 45 ± 7 years, 63% male) were examined between 1974 and 1992 with resting and standing BP measurement, and re-examined betwe
Stem cell engineering and grafting of mesencephalic dopamine (mesDA) neurons is a promising strategy for brain repair in Parkinson's disease (PD). Refinement of differentiation protocols to optimize this approach will require deeper understanding of mesDA neuron development. Here, we studied this process using transcriptome-wide single-cell RNA sequencing of mouse neural progenitors expressing the
Low serum apolipoprotein (Apo) A1 concentrations and high serum ApoB concentrations may be better markers of the risk of cardiovascular disease than high-density lipoprotein (HDL) and low-density lipoprotein (LDL). However, the associations between modifiable lifestyle factors and Apo concentrations have not been investigated in detail. Therefore, this study investigated the associations between A
Many neurodegenerative diseases are characterized by the presence of intracellular protein aggregates, resulting in alterations in autophagy. However, the consequences of impaired autophagy for neuronal function remain poorly understood. In this study, we used cell culture and mouse models of huntingtin protein aggregation as well as post-mortem material from patients with Huntington's disease to
AIM: To investigate secular trends and regional disparities in hospitalizations due to systemic connective tissue diseases (SCTD) in Sweden from 1998 to 2016.METHOD: We identified all hospital admissions with a principal diagnosis of SCTD (ICD-10 codes: M30-M36) from the Swedish National Patient Register. Joinpoint regression was used to assess secular trends in age-standardized hospitalization ra
Objective: The aim was to compare the vitamin D levels in patients with Graves disease (GD) with the general population and to correlate the vitamin D levels with laboratory and clinical parameters in GD. Moreover, we examined the genetic variation in genes involved in the vitamin D metabolism and their association with GD.Methods: The levels of vitamin D were compared in 292 patients with newly d
Background and Purpose-Statin therapy is associated with a lower risk of ischemic stroke supporting a causal role of low-density lipoprotein (LDL) cholesterol. However, more evidence is needed to answer the question whether LDL cholesterol plays a causal role in ischemic stroke subtypes. In addition, it is unknown whether high-density lipoprotein cholesterol and triglycerides have a causal relatio
Objectives: We explored associations between specific meniscal pathologies and other concurrent structural knee pathologies with presence of self-reported mechanical symptoms in patients undergoing meniscal surgery. Design: Cross-sectional study. Methods: We included patients undergoing surgery for a meniscal tear from Knee Arthroscopy Cohort Southern Denmark (KACS). Pre-surgery, patients complete
The derivation of astrocytes from human pluripotent stem cells is currently slow and inefficient. We demonstrate that overexpression of the transcription factors SOX9 and NFIB in human pluripotent stem cells rapidly and efficiently yields homogeneous populations of induced astrocytes. In our study these cells exhibited molecular and functional properties resembling those of adult human astrocytes
Background: Mechanical knee symptoms are often considered important in the decision to perform knee arthroscopy on the suspicion of a meniscal tear. We investigated if presence of a meniscal tear at knee arthroscopy in adults is associated with presence of preoperative self-reported mechanical knee symptoms. Methods: We used data from Knee Arthroscopy Cohort Southern Denmark (KACS). KACS consists
We have previously shown that there is a distinct longitudinal movement of the arterial wall during a cardiac cycle. This movement is larger in the intima-media region than in the adventitial region which introduces a substantial shear strain within the arterial wall. Our previously developed echo-tracking algorithm measured this shear strain by tracking two separate echoes, one in the intima-medi
The plasma metabolome is associated with multiple phenotypes and diseases. However, a systematic study investigating clinical determinants that control the metabolome has not yet been conducted. In the present study, therefore, we aimed to identify the major determinants of the plasma metabolite profile. We used ultra-high performance liquid chromatography (UHPLC) coupled to quadrupole time of fli
