Next generation sequencing (NGS) methods have been widely used for diagnosis. As time and cost of sequencing has reduced sharply during the last decade, genome and exome-wide sequencing have increasingly been used. The genome and exome projects produce large amounts of variation data and the clinical relevance of large proportions of them are not known. Among various types of genetic variations, t

Grand challenges such as climate change put focus away from innovations and innovation policy as engines of economic growth towards fulfilling societal goals and sighting sustainable development. The literature on the geography of innovation has provided valuable insights on innovation activities of firms and industries and how they are positively influenced by co-location. In particular, short ge

The roots of mission studies are in the western missionary movement which had its heyday at the same time with the colonialist era. Academic mission studies which began a hundred years ago were confessional and served the interests of the western missions. With decolonisation and indigenisation of the majority world churches also mission studies underwent great changes. The study of world Christia

We present an intensive monitoring of high-resolution spectra of the Ca ii K line in the A7IV shell star φ Leo at very short (minutes, hours), short (night to night), and medium (weeks, months) timescales. The spectra show remarkable variable absorptions on timescales of hours, days, and months. The characteristics of these sporadic events are very similar to most that are observed toward the debr

Background While effective vocational methods for gaining employment exist for people with schizophrenia and similar conditions, no evidence exists with regard to people with affective disorders. We aimed to study the effectiveness of a newly developed Individual Enabling and Support (IES) model adapted for the target group and compared to traditional vocational rehabilitation (TVR). Methods An as

Background: CD4+ FoxP3+ regulatory T cells (Tregs) are the potent suppressors of activation and proliferation of conventional T cells. Tregs subdivided by their expression of FoxP3 and CD45RA identify clinically important functional subsets. Methods: We analyzed Treg subpopulations in hematopoietic stem cell harvests (SCH) from 22 allogeneic (matched unrelated and sibling) donors with flow cytomet

Background: A recent publication on efficacy of Sprifermin for knee osteoarthritis (OA) using quantitatively MRI-defined central medial tibio-femoral compartment cartilage thickness as the structural primary endpoint reported no statistically significant dose response. However, Sprifermin was associated with statistically significant, dose-dependent reductions in loss of total and lateral tibio-fe

A mouse monoclonal antibody (MAB 9,9) to coagulation factor IX (F.IX) detects a polymorphism in the plasma of normal people. Its epitope has been narrowed down to

This paper analyzes the role of various types of agglomeration externalities on the survival rate of entrepreneurial firms. In particular, we trace the population cohort of newly-established and self-employed Swedish firms in the Knowledge-Intensive Business Service sector in 1997 up to 2012 and investigate the role of Marshallian and Jacobian externalities on the survival of these firms. We find

Antihaemophilic-factor-A-antibodies, which had spontaneously arisen in 2 patients, were used to develop an immunoradiometric method for measurement of antihaemophilic factor A antigen (VIII:CAg). 13 patients with severe haemophilia A had VIII: CAg below the limit of detection (0.01 U/ml). Patients with moderate and mild haemophilia A either had VIII:CAg roughly equal to factor VIII clotting activi

A semistructured personal interview with 29 female carriers of hemophilia and 23 of their spouses was performed at a median of 3 1/2 years after the first chorionic villus sampling (CVS) and gene analysis. Carriers with a hemophilic father or brother, had high sense of coherence (SOC) scores, and thus would be expected to have good ability to handle the stress of prenatal diagnosis (PD). Prenatal

The mutations of 76 haemophilia B patients representing the whole population registered with the Malmö haemophilia centre (42) and referrals from the UK, were characterised. RFLP haplotype analysis of the defective genes indicated that 51 single base pair substitutions were definitely of independent origin and 27 of these were CpG----TpG or CpA transitions. This represents a 38-fold excess over ot

Background: The national incidence of adverse events (AEs) in Swedish orthopedic care has never been described. A new national database has made it possible to describe incidence, nature, preventability and consequences of AEs in Swedish orthopedic care. Methods: We used national data from a structured two-stage record review with a Swedish modification of the Global Trigger Tool. The sample was 4

Rapid identification of gene defects allows definite carrier and prenatal diagnosis in virtually every family with haemophilia B. We report a study of the family of an isolated patient. Analysis of all the essential regions of the patient's factor IX gene (promoter, exons, transcript processing signals) revealed two mutations: one C----T transition at residue 17762 and another at residue 30890. Th

The case of a female with moderate haemophilia B is reported. She is the only affected member of her family, and factor IX RFLP analysis shows her to have inherited no maternal markers for polymorphisms located in the first intron and 8 Kb 3' of the polyadenylation signal (DdeI and HhaI, respectively). This clearly indicates a deletion involving at least the last 7 exons of the factor IX gene. Her