Several genetic studies have demonstrated an association between mutations in glucocerebrosidase (GBA), originally implicated in Gaucher's disease, and an increased risk of Parkinson's disease (PD). We have investigated the possible involvement of genetic GBA variations in PD in the Swedish population. Three GBA variants, E326K, N370S, and L444P were screened in the largest Swedish Parkinson cohor

Regulatory authorities have indicated that new drugs to treat type 2 diabetes (T2D) should not be associated with an unacceptable increase in cardiovascular risk. Human genetics may be able to guide development of antidiabetic therapies by predicting cardiovascular and other health endpoints. We therefore investigated the association of variants in six genes that encode drug targets for obesity or

Guided by complexity theory, in this article, we argue that a complex understanding of disaster response management can be achieved by making multiple, transparent and modest interpretations. We suggest an analytical framework in which multiple system interpretations are constructed, all based on explicit analytical choices according to three aspects: (1) system dimension, (2) system scope and (3)

Offentliga aktörer argumenterar och agerar för ett alltmer decentraliserat ansvar för katastrofriskreducering. Det är upp till individer och lokalsamhällen att säkerställa sin säkerhet i händelse av en påfrestning. Detta är en tendens som hittat en vetenskaplig legitimitet i begreppet resiliens.

Acquired inhibitors to coagulation factors other than factor VIII are extremely rare. We describe a case of a 59-year-old woman with abnormal bleeding, diagnosed with concurrent inhibitor antibodies to factor VIII and IX by Bethesda testing. We demonstrate that anti-FVIII antibodies of a very high titre are capable of disturbing the aPTT-based Bethesda assay, resulting in falsely-positive antibodi

Estimates of direct and indirect costs of psoriasis are limited. The aim of this study was to estimate: (i) costs in patients with psoriasis compared with controls; and (ii) impact on costs from initiating biologics. The study extracted data from Swedish administrative registers and compared 31,043 patients with 111,645 sex-, age- and residency-matched referents. Mean direct and indirect costs wer

The NOCTET study randomized 282 patients ≥1 year after heart or lung transplantation to continue conventional calcineurin inhibitor (CNI) therapy or to start everolimus with reduced-exposure CNI. Last follow-up, at ≥5 years postrandomization (mean: 5.6 years) was attended by 72/140 everolimus patients (51.4%) and 91/142 controls (64.1%). Mean measured GFR remained stable in the everolimus group fr

Telomeres are protective cap structures at the ends of the linear eukaryotic chromosomes, which provide stability to the genome by shielding from degradation and chromosome fusions. The cap consists of telomere-specific proteins binding to the respective single- and double-stranded parts of the telomeric sequence. In addition to the nucleation of the chromatin structure the telomere-binding protei

Berättandet är kanske det mest ursprungliga sättet att skapa mening. Det är behovet av att konstruera en meningsfull tillvaro som driver barnet att lära sig språkliga strukturer. Med berättelser kan vi förmedla kunskap, genom att dela berättelser kan vi hålla fred. Berättelser förekommer alltid i en kulturell ram som anger vilka orsakssammanhang som är begripliga och vilka individer eller objekt s

The aim of this study was to describe hospitalised cancer patients' perceptions of individualised care in four European countries and compare these perceptions using the patients' socio-demographic characteristics and the Individualized Care Scale. The patients' socio-demographic characteristics used were: education, age, gender, type of hospital admission, previous hospitalisation and hospital le

Next-generation sequencing techniques have revealed that leukemic cells in acute myeloid leukemia often are characterized by a limited number of somatic mutations. These mutations can be the basis for the detection of leukemic cells in follow-up samples. The aim of this study was to identify leukemia-specific mutations in cells from patients with acute myeloid leukemia and to use these mutations a

Background: The Scandinavian society of anaesthesiology and intensive care medicine task force on pre-hospital airway management was asked to formulate recommendations following standards for trustworthy clinical practice guidelines. Methods: The literature was systematically reviewed and the grading of recommendations assessment, development and evaluation (GRADE) system was applied to move from