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BACKGROUND: F8 int1h inversions (Inv1) are detected in 1-2% of severe hemophilia A (HA) patients. Long-range polymerase chain reaction (PCR) and inverse-shifting PCR have been used to diagnose these inversions.OBJECTIVES: To design and validate a sensitive and robust assay for detection of F8 Inv1 inversions.METHODS: Archival DNA samples were investigated using mile-post assays and droplet digital
This chapter describes the musculoskeletal (MSK) context in children and young people as an important contributor to the global non-communicable disease burden. Through selected MSK conditions, we describe the impact on patients, families and communities and highlight the challenges that need to be addressed. We focus on opportunities for better working together and describe exemplar initiatives t
Vanuatu is one of the most hazard prone nations in the world and frequently tops the World Risk Report as the nation with the highest overall disaster risk. The devastation wrought by category 5 cyclone Pam (2015), the El Niño drought (2015/16), and volcanic eruptions in Ambae (2018), are but a few recent examples of disasters which have disrupted livelihoods and curtailed development. The Vanuatu
Background: Previous studies have indicated that vitamin K deficiency is common in non-bleeding critically ill patients with slightly prolonged prothrombin time-international normalized ratio (PT-INR). It has never been investigated thoroughly whether the administration of vitamin K to these patients could affect their PT-INR. Therefore, the aim of this registry study was to evaluate changes in PTBackground Previous studies have indicated that vitamin K deficiency is common in non-bleeding critically ill patients with slightly prolonged prothrombin time-international normalized ratio (PT-INR). It has never been investigated thoroughly whether the administration of vitamin K to these patients could affect their PT-INR. Therefore, the aim of this registry study was to evaluate changes in PT-
Using exact dispersion relations for electromagnetic wave propagation in layered, periodic media, consisting of two phases, we derive explicit asymptotic solutions for small wavenumbers. These solutions are compared to the numerical solutions of the exact dispersion relations, and applications to homogenization problems are discussed. The results can be used as test cases for homogenization techni
A fragment-based development of 3C-triazol-1-yl-O-galactopyranosyl aldoximes led to the discovery of highly selective and high affinity (K(d) down to 11 microm) small monosaccharide based inhibitors of galectin-3. Galectin-7, 8 N-terminal CRD, and 9 N-terminal CRD bound the inhibitors only weakly. The galectin-3 selectivity was hypothesized to stem from interaction of the aldoxime moiety with a si
Parks, remnants of natural habitats and other green areas are important for preserving biodiversity in urban areas. Here, we investigate the relative importance of habitat type and connectivity for butterfly species richness in the city of Malmo, Sweden. Further, we compare species richness and composition in the urban habitats with that in the surrounding agricultural landscape using previously p
We have used density functional methods to calculate fully relaxed potential energy curves of the seven lowest electronic states during the binding of O-2 to a realistic model of ferrous deoxyheme. Beyond a Fe-O distance of similar to 2.5 Angstrom, we find a broad crossing region with five electronic states within 15 kJ/mol. The almost parallel surfaces strongly facilitate spin inversion, which is
OBJECTIVE: to investigate the factors that influence the experience of mothers and fathers when they have chosen to return home, earlier than is the normal routine, following the birth of their baby. DESIGN: a qualitative study, using open interviews, was undertaken. The text of the transcripts was coded and categorised according to the grounded theory method using constant comparative analysis. S
Objective. To search for primary hyperaldosteronism (PHA) among previously known hypertensive patients in primary care, using the aldosterone/renin ratio (ARR), and to evaluate clinical and biochemical characteristics in patients with high or normal ratio. Design. Patient survey study. Setting and subjects. The study population was recruited by written invitation among hypertensive patients in two
CHARGE syndrome is a disorder characterized by Coloboma, Heart defect, Atresia choanae, Retarded growth and/or development, Genital hypoplasia and Ear anomalies. Heterozygous mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene have been identified in about 60% of individuals diagnosed with CHARGE syndrome. We performed a CHD7 mutation screening by direct exon sequencing in 28
BACKGROUND: Diclofenac is widely used for postoperative analgesia but the perioperative safety of this drug is controversial because of its effect on platelet aggregation, which might increase blood loss. In a prospective investigator-blinded study the effects of diclofenac and paracetamol on pain and blood loss were compared in patients undergoing tonsillectomy. METHOD: Ninety patients were rando
BACKGROUND: Cobalamin/folate deficiency is common in elderly subjects and may lead to psychiatric symptoms, but even more often it increases the severity of other organic and non-organic mental diseases. It is therefore of importance to evaluate the optimal use of different markers of cobalamin/folate status in a psychogeriatric population. METHODS: We measured serum cobalamin, blood folate, plasm
Speech variation of speakers is a crucial issue for speaker recognition and identification, especially for forensic practice. Greater intra-speaker variation is one main reason for incorrect speaker identification in real forensic situations. Understanding the stability of acoustic parameters and their variation in speech is therefore significant for the evaluation of effective parameters for spea
The reliable detection of a superoxide anion radical O-2(.-) - is complicated by its spontaneous dismutation reaction to H2O2 at acidic pHs. To simultaneously detect both O-2(.-) and H2O2 produced in the course of its spontaneous dismutation, an electrochemical two-electrode system based on cytochrome c (cyt c) and recombinant horseradish peroxidase (rHRP) was applied. Therewith, a limited applica
We study how the dimension of the invariant set of an interval map with a hole depends on the size of the hole. Under some assumptions on the map, it is shown that the derivative of the dimension with respect to the size of the hole is bounded and that the dimension is bounded away from zero.
The microarray technique requires the organization and analysis of vast amounts of data. These data include information about the samples hybridized, the hybridization images and their extracted data matrices, and information about the physical array, the features and reporter molecules. We present a web-based customizable bioinformatics solution called BioArray Software Environment (BASE) for the
The demand for highly purified plasmids in gene therapy and plasmid-based vaccines requires large-scale production of pharmaceutical-grade plasmid. Plasmid DNA was selectively precipitated from a clarified alkaline lysate using the polycation poly(N,N'-dimethyldiallylammonium) chloride which formed insoluble polyelectrolyte complex (PEC) with the plasmid DNA. Soluble PECs of DNA with polycations h
