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Malignant hyperthermia and central core disease causative mutations in Swedish patients.

Background: Malignant hyperthermia (MH) susceptibility is a pharmacogenetic disorder of intracellular calcium homeostasis. In susceptible individuals, halogenated anaesthetics and/or suxamethonium may trigger an MH reaction. The diagnosis of MH susceptibility is made by an in vitro contracture test of biopsied muscle strips. Methods: In 27 MH susceptible (MHS) probands and four MH negative (MHN) p

SAXS studies of human protein HC (alpha(1)-microglobulin)

Protein HC is a low molecular weight heterogeneous glycoprotein widely distributed in human body fluids and belonging to the lipocalin superfamily. The monomer contains a single (183 amino acid residues long) peptide chain with 3 cysteine residues (2 of which form a disulfide bridge) and is glycosylated. The molecular mass of the glycosylated protein is about 27 kDa. Native gel electrophoresis res

X-ray diffuse scattering measurements of nucleation dynamics at femtosecond resolution

Femtosecond time-resolved small and wide angle x-ray diffuse scattering techniques are applied to investigate the ultrafast nucleation processes that occur during the ablation process in semiconducting materials. Following intense optical excitation, a transient liquid state of high compressibility characterized by large-amplitude density fluctuations is observed and the buildup of these fluctuati

Novel genetic variant in FTO influences insulin levels and insulin resistance in severely obese children and adolescents

Background: The global prevalence of obesity and overweight is increasing rapidly among adults as well as among children and adolescents. Recent genome-wide association studies have provided strong support for association between variants in the FTO gene and obesity. We sequenced regions of the FTO gene to identify novel variants that are associated with obesity and related metabolic traits. Resul

Personality and marital satisfaction: A behavioural genetic analysis

Previous research has found that genetic and nonshared environmental factors influence Marital quality (Spotts et al., 2004). The current study explored personality as a source for these genetic and environmental individual differences. A sample of 752 Swedish twin women and their spouses were used. Genetic and environmental influences were found for self-report measures of Marital quality, but on

IAP antagonists induce autoubiquitination of c-IAPs, NF-kappaB activation, and TNFalpha-dependent apoptosis

Inhibitor of apoptosis (IAP) proteins are antiapoptotic regulators that block cell death in response to diverse stimuli. They are expressed at elevated levels in human malignancies and are attractive targets for the development of novel cancer therapeutics. Herein, we demonstrate that small-molecule IAP antagonists bind to select baculovirus IAP repeat (BIR) domains resulting in dramatic induction

Efficacy and safety of balloon kyphoplasty compared with non-surgical care for vertebral compression fracture (FREE): a randomised controlled trial

Background Balloon kyphoplasty is a minimally invasive procedure for the treatment of painful vertebral fractures, which is intended to reduce pain and improve quality of life. We assessed the efficacy and safety of the procedure. Methods Adults with one to three acute vertebral fractures were eligible for enrolment in this randomised controlled trial at 21 sites in eight countries. We randomly as

Amylin inhibits bone resorption while the calcitonin receptor controls bone formation in vivo

Amylin is a member of the calcitonin family of hormones cosecreted with insulin by pancreatic beta cells. Cell culture assays suggest that amylin could affect bone formation and bone resorption, this latter function after its binding to the calcitonin receptor (CALCR). Here we show that Amylin inactivation leads to a low bone mass due to an increase in bone resorption, whereas bone formation is un

Characterization of drug-protein binding process by employing equilibrium sampling through hollow-fiber supported liquid membrane and Bjerrum and Scatchard plots.

The technique equilibrium sampling through membrane (ESTM) was extended to measuring the free drug concentration in solutions of drug and protein. Bjerrum and Scatchard plots were employed for characterizing individual drug binding to pure human blood proteins. Four drugs were investigated as a model system: fluvoxamine and ropivacaine which dominantly bind to alpha-acid glycoprotein (AGP), and R,

Long-term change in cholesterol in relation to inflammation-sensitive plasma proteins: a longitudinal study.

PURPOSE: The nature of the relationship between inflammation and elevated serum lipid levels is incompletely understood. This longitudinal study explores whether elevated levels of inflammation-sensitive plasma proteins (ISPs) are a risk factor for developing increased cholesterol and triglyceride levels. METHODS: Five ISPs (fibrinogen, orosomucoid, alpha(1)-antitrypsin, haptoglobin, and cerulopla

A candidate region for Asperger syndrome defined by two 17p breakpoints

Asperger syndrome (AS) is a mild form of autistic disorder characterised by impairment in social interaction as well as a restricted pattern of behaviour, interests, and activities. Two patients with AS and balanced translocations t(13;17) and t(17;19), respectively, were identified. Fluorescent in situ hybridisation (FISH) analysis with chromosome 17 specific clones to metaphase chromosomes from

Gene expression profiling for the identification of G-protein coupled receptors in human platelets

INTRODUCTION AND MATERIALS AND METHODS: G-protein coupled receptors (GPCRs) play an important role in platelet aggregation. To identify new platelet GPCRs, a platelet gene expression profile was generated and validated using quantitative real-time PCR. RESULTS: In total, mRNA of 28 GPCR genes was detected in human platelets. The 12 most abundant platelet GPCR transcripts were: thrombin receptor PA

How palatable food disrupts appetite regulation.

Appetite regulation is part of a feedback system that controls the energy balance, involving a complex interplay of hunger and satiety signals, produced in the hypothalamus as well as in peripheral organs. Hunger signals may be generated in peripheral organs (e.g. ghrelin) but most of them are expressed in the hypothalamus (neuropeptide Y, orexins, agouti-related peptide, melanin concentrating hor

Anxiolytic-hypnotic drug use associated with trust, social participation, and the miniaturization of community: A multilevel analysis

The concept of social capital has gained wide interest in public health research in recent years. However, we suggest a concept that was introduced and developed by Fukuyama, named "miniaturization of community".. as an alternative to that of social capital. The concept of miniaturization of community emphasizes that a high level of social participation can be accompanied by a low level of trust,

Dosage considerations in patch testing with liquid allergens

This study examines reproducibility of water and ethanol drop volumes from plastic squeeze dropper bottles, examines the difference in drop volumes between commonly used liquid patch test solutions, and evaluates the volumes of water and ethanol needed to saturate Finn and IQ Chamber filter papers. 2 plastic squeeze dropper bottles recommended for use in patch testing have poor reproducibility com

Control of structure and photophysical properties by protonation and subsequent intramolecular hydrogen bonding

Protonation and subsequent intramolecular hydrogen bonding as methods to control chain structure and tune luminescence in heteroatomic conjugated polymers were reported experimentally [A. P. Monkman , J. Am. Chem. Soc. 124, 6049 (2002)]. In this paper, the structure and photophysical properties of the model teraryl compound of phenylene-pyridylene copolymer before and after protonation are theoret