The Genomic Medicine Sweden (GMS) initiative aims to strengthen precision medicine across the country. This will be accomplished through the implementation of large-scale sequencing techniques in Swedish healthcare. With a patient-centered view, initial efforts will focus on rare diseases, cancer, pharmacogenomics, and infectious diseases, and subsequently extend to complex diseases. GMS is being

Since the demand for raw material is still growing, historical mining dumps are in the focus of geophysical investigations because they can still bear valuable minerals. Moreover, the risk assessment of groundwater contamination due to solutions processes within slag dumps is an important part of dump characterisations. One suitable technique to use is the spectral induced polarisation (SIP) metho

Spectral information from induced polarisation (IP) measurements can be used for several applications as the characterisation of the lithology, the estimation of hydraulic parameters, the localization of contaminated areas and many more.So far, the spectral content has been mainly determined in frequency domain (FD). Due to significant instrumental developments and advanced data processing and inv

BACKGROUND: Emerging data support the use of thymidine kinase 1 (TK1) activity as a prognostic marker and for monitoring of response in breast cancer (BC). The long-term prognostic value of TK1 kinetics during neoadjuvant chemotherapy is unclear, which this study aimed to elucidate. METHODS: Material from patients enrolled to the single-arm prospective PROMIX trial of neoadjuvant epirubicin, docet

Complex diseases represent a number of common disorders such as allergic conditions, cardiovascular, metabolic and chronic inflammatory diseases. These diseases are caused by a combination of genetic, environmental and lifestyle factors. This complex etiology creates challenges when it comes to diagnostics, follow-up programs and treatment. Although exact disease mechanisms are yet to be elucidate

Spectral induced polarization (SIP) is an increasingly interesting technique for field investigations since it can provide valuable information on the properties of the subsurface deposits or groundwater units. Field measurements can be carried out in the frequency domain (FD) or in the time domain (TD) but should lead to the same spectral subsurface description. IP measurements are superimposed b

Background: There are multiple known associations between the ABO and RhD blood groups and disease. No systematic population-based studies elucidating associations between a large number of disease categories and blood group have been conducted. Methods: Using SCANDAT3-S, a comprehensive nationwide blood donation-transfusion database, we modelled outcomes for 1,217 disease categories including 70

The surface area of a building that could potentially be used for Building Integrated Photovoltaics would increase dramatically with the availability of transparent solar cells that could replace windows. The challenge is to capture energy from outside the visible region (UV or IR) while simultaneously allowing a high-quality observation of the outside world and transmitting sufficient light in th

Objectives Most indices of disease activity in SLE combine physicians' assessments and laboratory tests. However, there is also a need to capture patients' perspectives of disease activity. Consequently, we need new, preferably quick and easy instruments to collect this information, which can be very useful for online consultations and registry purposes. We compared patients' assessments of SLE di

The carbon cycle of tropical terrestrial vegetation plays a vital role in the storage and exchange of atmospheric CO2. But large uncertainties surround the impacts of land-use change emissions, climate warming, the frequency of droughts, and CO2 fertilization. This culminates in poorly quantified carbon stocks and carbon fluxes even for the major ecosystems of Africa (savannas and tropical evergre

BACKGROUND: It is unclear how the length of prehospital transport time affects outcome in paediatric trauma. This study evaluated the association of transport time from alarm to arrival at hospital with adverse outcome in paediatric trauma patients in Sweden. METHODS: This was a retrospective study based on prospectively collected data from the Swedish trauma registry between 2012 and 2019 of chil

Background Fragility fractures are caused by low-energy insults such as falls from standing height or less and pose a growing health challenge as their incidence rises with increasing age. Impaired orthostatic blood pressure response and a number of cardiovascular biomarkers have been previously identified as risk factors for fractures. It is likely that severe episodes of syncope and orthostatic

Aims: The aim of this study was to assess the real-world clinical performance of a sirolimus-eluting ultrathin-strut drug-eluting stent (DES) (Orsiro) in a large nationwide cohort of patients undergoing percutaneous coronary intervention (PCI). Methods and results: From the Swedish Coronary Angiography and Angioplasty Registry, the two-year outcomes of 4,561 patients implanted with Orsiro (Orsiro

Standard treatment options in classic HCL (cHCL) result in high response rates and near normal life expectancy. However, the disease itself and the recommended standard treatment are associated with profound and prolonged immunosuppression, increasing susceptibility to infections and the risk for a severe course of COVID-19. The Hairy Cell Leukemia Foundation (HCLF) has recently convened experts a

Developmental hematopoiesis differs from adult and is far less described. In the developing embryo, waves of lineage-restricted blood precede the ultimate emergence of definitive hematopoietic stem cells (dHSCs) capable of maintaining hematopoiesis throughout life. During the last two decades, the advent of single-cell genomics has provided tools to circumvent previously impeding characteristics o

Type 1 diabetes (T1D) is a chronic autoimmune disease that affects about 1 in 300 children and up to 1 in 100 adults during their life-time1. Improvements in early prediction of T1D onset may help prevent diagnosis for diabetic ketoacidosis, a serious complication often associated with a missed or delayed T1D diagnosis. In addition to genetic factors, progression to T1D is strongly associated with

Distributed surveillance systems typically consist of multiple cameras that need to store some fraction of their video streams at a central storage node. The disk space of this node constitutes a shared resource. In the paper the disk space allocation is formulated as a PI control problem and a new method for enforcing global resource constraints inspired by anti-windup tracking is proposed. The a

PURPOSE: To study practice patterns in European cataract surgery over a 10-year period. SETTING: European clinics affiliated to the European Registry of Quality Outcomes for Cataract and Refractive Surgery (EUREQUO). DESIGN: Registry cohort study. METHODS: The EUREQUO contains preoperative, intraoperative, and postoperative parameters reported by surgeons in many European clinics. All data reporte