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Prenatal diagnosis of haemophilia A or B is possible by means of chorionic villus biopsy in the first trimester which traces the mutation or informative genetic markers. If possible, direct gene analysis of the mutation is preferred, The natural starting point in haemophilia A is to ascertain whether the disease is due to inversion in the X-chromosome, which is the case in almost half of the sever
Factor XIII deficiency is a rare autosomal recessive bleeding disorder that is characterized by defective crosslinking of fibrin and poor resistance to fibrinolysis. We have characterized seven mutations in FXIII A-subunit gene: Four missense mutations (Met242->Thr. Arg252->Ile, Arg326->Gln and Leu498->Pro) and three nonsense mutations (Arg661->Stop, delT Phe8 and a splicing defect T->C at positio
The existence of two genetic variants (allotypes) of normal human factor IX is used for carrier detection in three families with severe and one with mild haemophilia B. By analysis of IX:Ag with two different monoclonal antibodies in 93 members of the families, allelic assignment is shown to be a complement in carrier diagnosis to genotypic DNA studies. Allelic assignment makes possible a reliable
Haemophilia A and haemophilia B are congenital X-linked bleeding disorders caused by deficiency of coagulation factor VIII (FVIII) and IX (FIX), respectively. The preferred treatment option for patients with haemophilia is replacement therapy. For patients with severe disease, prophylactic replacement of coagulation factor is the treatment of choice; this has been shown to reduce arthropathy signi
Mild haemophilia is defined by factor levels between 0.05 and 0.40 IU/mL and is characterised by traumatic bleeds. Major issues associated with mild haemophilia are that it may not present for many years after birth, and that awareness, even within families, may be low. Methodological problems exist in diagnosis, such as inconsistencies in results obtained from different assays used to measure fac
Atrial fibrosis can be estimated noninvasively by magnetic resonance imaging (MRI) using late gadolinium enhancement (LGE), but diastolic dysfunction is clinically assessed by transthoracic echocardiography (TTE), and rarely by MRI. This study aimed to evaluate well-established diastolic parameters using MRI, and validate them with TTE and left ventricular (LV) filling pressures, and to study the
Background Dose/area and reading paradigms for gold patch testing are controversial and not standardized worldwide. Objectives The aims of this study were to determine the optimum patch test dose of gold sodium thiosulfate (GST) in a hydrogel (HYD) and to establish GST HYD safety/efficacy and further characterize normal morphology and time course of GST reactions. Methods Twenty gold-allergic pati
Purpose: Carriers of CDKN2A mutations have high risks of melanoma and certain other cancers. In this study we examined the occurrence of tumors among CDKN2A wild type (wt) members of melanoma-prone families with CDKN2A mutations. Methods: Swedish and US melanoma-prone families with CDKN2A mutations were included. Data was collected on tumors diagnosed among family members. Among the CDKN2A mutated
Pollination success is important for crop yield, but may be cultivar dependent. Less is known about which floral traits influence pollination success. Floral traits, e.g. traits related to attraction and reward, can also contribute to gene flow via pollen, the latter being of particular importance in oilseed rape (Brassica napus) where gene flow occurs between plants of crop, volunteer and feral o
When liquids flow through a throttling element, the velocity increases and the pressure decreases. At this point, if the pressure is below the saturated vapor pressure of this liquid, the liquid will vaporize into small bubbles, causing hydraulic cavitation. In fact, a vaporization nucleus is another crucial condition for vaporizing, and particles contained in the liquid can also work as the vapor
This paper presents an object-based, global climatology (1979-2014) of strong large-scale ocean evaporation (SLOE) and its associated climatic properties. SLOE is diagnosed using an ''atmospheric moisture uptake efficiency'' criterion related to the ratio of surface evaporation and integrated water vapor content in the near-surface atmosphere. The chosen Eulerian identification procedure focuses o
We present a method to combine the all-order treatment of the High Energy Jets exclusive partonic Monte Carlo (HEJ) with the parton shower of Pythia8, while retaining the logarithmic accuracy of both. This procedure enables the generation of fully realistic and hadronised events with HEJ. Furthermore, the combination of the two allorder treatments leads to improvements in the quality of the descri
Development of human hematopoietic stem cells and differentiation of embryonic stem (ES) cells/induced pluripotent stem (iPS) cells to hematopoietic stem cells are poorly understood. NOD (Non-obese diabetic)-derived mouse strains, such as NSG (NOD-Scid-il2Rg) or NRG (NOD-Rag1-il2Rg), are the best available models for studying the function of fetal and adult human hematopoietic cells as well as ES/
Hematopoietic stem cell transplantation often involves the cryopreservation of stem cell products. Currently, the standard cryoprotective agent (CPA) is dimethyl sulfoxide (DMSO), which is known to cause concentration-related toxicity and side effects when administered to patients. Based on promising in vitro data from our previous study using pentaisomaltose (a 1 kDa subfraction of Dextran 1) as
The mass and semimajor axis distribution of gas giants in exoplanetary systems obtained by radial velocity surveys shows that super-Jupiter-mass planets are piled up at 1 au, while Jupiter/sub-Jupiter-mass planets are broadly distributed from ∼0.03 au to beyond 1 au. This feature has not been explained by theoretical predictions. In order to reconcile this inconsistency, we investigate evolution o
A light pseudo-scalar that is copiously produced at the LHC may still be allowed by present searches. While masses above 65 GeV are effectively covered by di-photon searches, the lower mass window can be tested by a new search for boosted di-tau resonances. We test this strategy on a set of composite Higgs models with top partial compositeness, where most models can be probed with an integrated lu
Objective: This study aimed to determine the relationship between different forms of, and potential pathways between, maternal diabetes and childhood obesity at different ages. Methods: Prospective cohort data from The Environmental Determinants of Diabetes in the Young (TEDDY) study, which was composed of 5,324 children examined from 0.25 to 6 years of age, were analyzed. Cross-sectional and long
Background: Accurate assessment of polyphenol intakes is needed in epidemiologic research in order to study their health effects, and this can be particularly challenging in international study settings. Objective: The purpose of this work is to describe the procedures to prepare a comprehensive polyphenol food-composition database that was used to calculate standardized polyphenol intakes from 24
