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The May 2009 Human Variome Project (HVP) Forum "Towards Establishing Standards" was a round table discussion attended by delegates from groups representing international efforts aimed at standardizing several aspects of the HVP: mutation nomenclature, description and annotation, clinical ontology, means to better characterize unclassified variants (UVs), and methods to capture mutations from diagn
In this chapter, we will cover the available design choices for enabling expression of two functional protein or RNA sequences from a single viral vector. Such vectors are very useful in the neuroscience-related field of neuronal control and modulation, e.g., using optogenetics or DREADDs, but are also desirable in applications of CRISPR/Cas9 in situ genome editing and more refined therapeutic app
Background: The aim of this study was to prospectively evaluate and report the experience of the use of continuous intravenous propofol sedation in a paediatric intensive care unit (PICU). Methods: All children younger than 16 years who were admitted to the PICU at a University Hospital for slightly more than a year and received propofol infusion were included prospectively and data were recor
Personal assistance is a type of home care common to many countries even though entitlement and legislative framework may vary from country to country. At present, there exists no knowledge about the family members' experiences of such assistance; therefore, the aim of this study was to investigate family members' experiences of personal assistance given to a relative of working age with a functio
BACKGROUND: Total plasma homocysteine (tHcy) concentration is elevated in older patients with mental illness, and patients with vascular disease have higher plasma tHcy concentration than patients without vascular disease. Plasma tHcy has been reported to be associated with cognitive functions. The mechanism by which plasma tHcy may influence cognitive functions is not clear. METHOD: We have inves
PURPOSE To compare the effect of therapy with anastrozole versus a combination of fulvestrant and anastrozole in women in first relapse of endocrine-responsive breast cancer. PATIENTS AND METHODS Postmenopausal women, or premenopausal women receiving a gonadotropin-releasing hormone agonist, with estrogen receptor- and/or progesterone receptor-positive disease at first relapse after primary trea
Electromagnetic vector spherical waves have been used recently to model antenna-channel interaction and the available degrees of freedom in MIMO systems. However, there are no previous accounts of a method to estimate spherical wave coefficients from channel measurements. One approach for this, using a 3D positioner, is presented and analyzed in this letter. Measurement results are presented and d
OBJECTIVE: Diagnostic accuracy of a quantitative diagnostic test at a given numeric cutoff is dependent on the type of population (e.g., chronic, referrals, or screening) under investigation. Simple weighted averages calculated from a single study sample may be used to assess variability in accuracy in different types of populations. STUDY DESIGN AND SETTING: We evaluated the accuracy of the 4-var
PURPOSEAPR-246 (PRIMA-1MET) is a novel drug that restores transcriptional activity of unfolded wild-type or mutant p53. The main aims of this first-in-human trial were to determine maximum-tolerated dose (MTD), safety, dose-limiting toxicities (DLTs), and pharmacokinetics (PK) of APR-246. PATIENTS AND METHODSAPR-246 was administered as a 2-hour intravenous infusion once per day for 4 consecutive d
BACKGROUND: To evaluate potential sex differences, this study aimed to investigate blood pressure and lipid control and other risk factors for cardiovascular disease in treated hypertensive (tHT) patients from primary healthcare. DESIGN AND METHODS: This cross-sectional survey of tHT patients was carried out between 2002 and 2005 by 264 primary care physicians from Sweden who consecutively recruit
OBJECTIVE :Patients with symptoms and signs compatible with psoriatic arthritis (PsA), with or without psoriasis, have been documented in the Swedish Early Psoriatic Arthritis (SwePsA) register. Our aim was to find markers for disease progression and to evaluate treatments for PsA using these data. METHODS: Patients referred to rheumatology outpatient clinics within 2 years of onset were assessed
Incomplete healing of uterine scar after cesarean has been associated with adverse gynecological and obstetrical outcomes. Several studies reported that uterine closure at cesarean influence the healing of uterine scar and the risk of uterine rupture at subsequent pregnancies: the commonly used locked single-layer suture including the decidua being associated with a four-fold increase risk of uter
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a polyglutamine stretch in the huntingtin protein. Today, more than 15 years after the genetic defect underlying HD was discovered, the pathogenesis is still not well understood and there is no adequate treatment. Research into this disorder has conventionally focused on neurological symptoms and brain pathology, partic
A compact, high-brightness and practically debris-free laser-plasma soft x-ray source for proximity x-ray lithography is described. The target of the source is small liquid fluorocarbon droplets injected into vacuum with a piezoelectrically vibrated nozzle. Emission from helium- and hydrogenlike fluorine in the 1.2-1.7 nm wavelength range was determined to similar to 2X10(12) photons/(sr-pulse). w
C4b-binding protein (C4BP) is a soluble, 570 kDa large glycoprotein, present in plasma at a concentration of approximately 200 mg/L. C4BP is the main inhibitor of the classical and lectin pathways of complement, where it controls C4b-mediated reactions. Here, we describe a method for purification of C4BP from human plasma, which is based on barium chloride precipitation, anion exchange chromatogra
The region of North Africa (NA) represents a striking locality regarding migration with several migration patterns, namely emigration in the form of labour export to Europe and North America and, to a lesser extent, to the Arab Gulf area. The latter has increased enormously in the last decade because of the political instability in most of the NA countries. The aim of the present chapter was to ex
Galectin-1 and galectin-3 have roles in cancer and inflammation. Galectin-1 has recently emerged as a significant protein produced by tumour cells to promote tumour development, angiogenesis and metastasis and consequently represents an important target to inhibit. The design of inhibitors targeting the carbohydrate recognition domain that is known to recognize galactose is an important approach i
