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Familial dilated cardiomyopathy is a rare cause of dilated cardiomyopathy (DCM), especially in childhood. Our aim was to describe the clinical course and the genetic variants in a family where the proband was a four-month-old infant presenting with respiratory problems due to DCM. In the family, there was a strong family history of DCM and sudden cardiac death in four generations. DNA was analyzed
The ATLAS (one of two general purpose detectors at the LHC) Transition Radiation Tracker (TRT) is the outermost of the three tracking subsystems of the ATLAS Inner Detector. It is a large straw-based detector and contains about 350,000 electronics channels. The performance of the TRT as tracking and particularly particle identification detector strongly depends on stability of the operation parame
Objective The effect of a common polymorphism in the Growth Hormone (GH) receptor (d3-GHR) gene on growth, metabolism and body composition was examined in short children born small for gestational age (SGA) on GH treatment. Design In 96 prepubertal, short SGA children treated with high-dose GH (67 μg/kg/day) in the NESGAS study, insulin sensitivity (IS), insulin secretion and disposition index (DI
Objectives: Dysglycemia and glycemic variability are associated with poor outcomes in critically ill patients. Targeted temperature management alters blood glucose homeostasis. We investigated the association between blood glucose concentrations and glycemic variability and the neurologic outcomes of patients randomized to targeted temperature management at 33°C or 36°C after cardiac arrest. Desig
The current study provides a social constructionist approach to crisis communication in the Chinese context. Crisis communication is viewed as a form of strategic communication, involving multiple stakeholders in situations that are dependent on context, space and time. This approach provides a much-needed path for investigating and understanding crisis communication practices in contemporary Chin
The diagnosis of Alzheimer's disease can be improved by the use of biological measures. Biomarkers of functional impairment, neuronal loss, and protein deposition that can be assessed by neuroimaging (ie, MRI and PET) or CSF analysis are increasingly being used to diagnose Alzheimer's disease in research studies and specialist clinical settings. However, the validation of the clinical usefulness o
Background and purpose: A 1988 pilot study in Peru suggested an association between migraine and chronic exposure to high altitude. This study provides epidemiological evidence corroborating this. Methods: In a cross-sectional nationwide population-based study, a representative sample of Nepali-speaking adults were recruited through stratified multistage cluster sampling. They were visited at home
Normal haemostasis depends on an intricate balance between mechanisms of bleeding and mechanisms of thrombosis, and this balance can be altered after traumatic brain injury (TBI). Impaired haemostasis could exacerbate the primary insult with risk of initiation or aggravation of bleeding; anticoagulant use at the time of injury can also contribute to bleeding risk after TBI. Many patients with TBI
Research has described political participation as becoming ever more individualised (eg Bennett & Segerberg, 2013). This has been argued to be connected to the general individualisation of society, but also to affordances made possible by new media. One line of research explains political participation combining selective benefits (Olson, 1965), psychological factors (Klandermans & van Ste
Background: Dementia with Lewy Body (DLB) is a neurocognitive disorder with core features, such as Parkinsonism, visual hallucinations, and fluctuating cognition/ excessive daytime sleepiness, and supportive features, such as rapid eye movement sleep behaviour disorder. DLB is often misdiagnosed and unrecognized in elderly individuals. A diagnosis of DLB is important because of the risk of hyperse
Genome-wide association studies have identified risk loci for SLE, but a large proportion of the genetic contribution to SLE still remains unexplained. To detect novel risk genes, and to predict an individual's SLE risk we designed a random forest classifier using SNP genotype data generated on the "Immunochip" from 1,160 patients with SLE and 2,711 controls. Using gene importance scores defined b
In this study, Sentinel-1 interferometric wide swath (IW) mode backscatter is analysed with respect to physical parameters of buildings in Tallinn, Estonia. Dependence on height, alignment, density, shape, and material is shown and discussed. Distribution of backscatter was estimated with respect to each of the parameters, and a correlation matrix of all physical parameters and backscatter values
