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Gene mutations and inhibitor formation in patients with hemophilia B

The nature of the mutation in the factor IX gene is an important factor in determining whether a patient with hemophilia B will develop an inhibitor. In a series of 62 Swedish families with hemophilia B, including 30 with the severe form, approximately one third of the families exhibiting deletions or nonsense mutations contained one member who developed an inhibitor. The risk for inhibitor develo

Petrographic criteria for fluid mobility of graphitic carbon in terrestrial and extraterrestrial samples

Graphitic carbon is a widespread precipitate in terrestrial and extraterrestrial samples. However it has a range of possible origins, which can be difficult to distinguish, including the in situ alteration of organic matter, thermal alteration of hydrocarbons, and precipitation from C-O-H fluids. Petrographic characteristics help to understand the origin of the graphite, including relationships wi

Fumarate decreases edema volume and improves functional outcome after experimental stroke

Background Oxidative stress and inflammation exacerbate tissue damage in the brain after ischemic stroke. Dimethyl-fumarate (DMF) and its metabolite monomethyl-fumarate (MMF) are known to stimulate anti-oxidant pathways and modulate inflammatory responses. Considering these dual effects of fumarates, we examined the effect of MMF treatment after ischemic stroke in mice. Methods Permanent middle ce

Prophylactic infusion regimens in the management of hemophilia

To summarize, prophylactic treatment of hemophilia begun at an early age has been gaining acceptance as the optimal therapeutic option in an increasing number of hemophilia centers in the developed world in recent years. In all too many parts of the world, however, this option must be viewed as a long-range goal in hemophilia care, since national economic resources are insufficient for regular pro

A demonstration of an affinity between pyrite and organic matter in a hydrothermal setting

One of the key-principles of the iron-sulphur world theory is to bring organic molecules close enough to interact with each other, using the surface of pyrite as a substrate in a hydrothermal setting. The present paper explores the relationship of pyrite and organic matter in a hydrothermal setting from the geological record; in hydrothermal calcite veins from Carboniferous limestones in central I

Topical corticosteroid phobia in atopic dermatitis : International feasibility study of the TOPICOP score

Background: Adherence to topical corticosteroids (TCS) is essential for the effective treatment of atopic dermatitis but can be limited by concerns about their use. This study examined the feasibility of applying the validated TOPICOP score for assessing TCS phobia across different countries. Methods: This was a prospective multicentre feasibility study conducted in 21 hospitals in 17 countries. P

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI

Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretation (CAGI) experiment aims to test and define the state of the art of genotype-phenotype interpretation. Here, we present the assessment of the CAGI p1

Surgical reconstruction of ruptured anterior cruciate ligament prolongs trauma-induced increase of inflammatory cytokines in synovial fluid : An exploratory analysis in the KANON trial

Objective: Prospectively monitor how treatment of acutely ruptured anterior cruciate ligament (ACL) affects biomarkers of inflammation and proteolytic degradation over 5 years. Design: We studied 119 subjects with acute ACL injury from the randomized controlled knee anterior cruciate ligament, non-surgical versus surgical treatment (KANON)-trial (Clinical trial ISRCTN 84752559) who had synovial fl

Predictors of Paravalvular Regurgitation After Implantation of the Fully Repositionable and Retrievable Lotus Transcatheter Aortic Valve (from the REPRISE II Trial Extended Cohort)

Paravalvular leak (PVL) after transcatheter aortic valve replacement is associated with worse long-term outcomes. The Lotus Valve incorporates an innovative Adaptive Seal designed to minimize PVL. This analysis evaluated the incidence and predictors of PVL after implantation of the Lotus transcatheter aortic valve. The REPRISE II (REpositionable Percutaneous Replacement of Stenotic Aortic Valve th

Results from multiple prospective single-center clinical trials of the off-the-shelf p-Branch fenestrated stent graft

Objective: The purpose of this study was to report prospective data of an off-the-shelf fenestrated endograft (Zenith p-Branch; Cook Medical, Bloomington, Ind) from four centers for the treatment of patients with pararenal abdominal aortic aneurysms. Methods: Data were combined from four single-center investigational studies conducted in the United States and Europe. The p-Branch endograft consist

Search for dark matter in association with a Higgs boson decaying to b-quarks in pp collisions at s=13 TeV with the ATLAS detector

A search for dark matter pair production in association with a Higgs boson decaying to a pair of bottom quarks is presented, using 3.2 fb−1of pp collisions at a centre-of-mass energy of 13 TeV collected by the ATLAS detector at the LHC. The decay of the Higgs boson is reconstructed as a high-momentum bb¯ system with either a pair of small-radius jets, or a single large-radius jet with substructure

Reproductive choices of haemophilia carriers

The actual reproductive choices made by slightly over a quarter of all the carriers of severe or moderate haemophilia in Sweden were investigated and compared with those of a randomly selected age-matched group of women who were not carriers of haemophilia. In general, the 105 carriers had the same number of children as other women of similar age. However, carriers who did not choose prenatal diag

A novel model of dormancy for bone metastatic breast cancer cells

Mortality of patients with breast cancer is due overwhelmingly to metastatic spread of the disease. Although dissemination is an early event in breast cancer, extended periods of cancer cell dormancy can result in long latency of metastasis development. Deciphering the mechanisms underlying cancer cell dormancy and subsequent growth at the metastatic site would facilitate development of strategies

Long-term pattern of HIV-1 RNA load in perinatally infected children

The objective of this study was to describe the natural history of HIV-1 RNA load in vertically HIV-1-infected children. HIV-1 RNA in 156 plasma or serum samples (1-14, median 4 from each child) from 32 vertically HIV-1-infected children was detected with the NASBA® technique (Organon Teknika, The Netherlands). Twenty-one children were prospectively followed from birth, and 11 were identified and