Living with muscular dystrophy: health related quality of life consequences for children and adults

<p>Abstract</p> <p>Background</p> <p>Muscular dystrophies are chronic diseases manifesting with progressive muscle weakness leading to decreasing activities and participation. To understand the impact on daily life, it is important to determine patients' quality of life.</p> <p>Objective</p> <p>To investigate Health Related Quality of Life (HRQoL) of children and adults with muscular dystrophy (MD), and to study the influence of type and severity of MD on HRQoL in adult patients.</p> <p>Methods</p> <p>Age-related HRQoL questionnaires were administered to 40 children (8–17 years), and 67 adult patients with muscular dystrophies.</p> <p>Results</p> <p>Significant differences in HRQoL were found in children and adults with MD compared to healthy controls. Patients with Becker muscular dystrophy reported a better HRQoL on the several scales compared to patients with other MDs. Severity was associated with worse fine motor functioning and social functioning in adult patients.</p> <p>Conclusion</p> <p>This is one of the first studies describing HRQoL of patients with MD using validated instruments in different age groups. The results indicate that having MD negatively influences the HRQoL on several domains.</p

Evaluation of Brain Iron Content Based on Magnetic Resonance Imaging (MRI): Comparison among Phase Value, R2* and Magnitude Signal Intensity

Background and Purpose: Several magnetic resonance imaging (MRI) techniques are being exploited to measure brain iron levels increasingly as iron deposition has been implicated in some neurodegenerative diseases. However, there remains no unified evaluation of these methods as postmortem measurement isn’t commonly available as the reference standard. The purpose of this study was to make a comparison among these methods and try to find a new index of brain iron. Methods: We measured both phase values and R2 * in twenty-four adults, and performed correlation analysis among the two methods and the previously published iron concentrations. We also proposed a new method using magnitude signal intensity and compared it with R2 * and brain iron. Results: We found phase value correlated with R2 * in substantia nigra (r = 20.723, p,0.001) and putamen (r = 20.514, p = 0.010), while no correlations in red nucleus (r = 20.236, p = 0.268) and globus pallidus (r = 20.111, p = 0.605). And the new magnitude method had significant correlations in red nucleus (r = 20.593, p = 0.002), substantia nigra (r = 20.521, p = 0.009), globus pallidus (r = 20.750, p,0.001) and putamen (r = 20.547, p = 0.006) with R2*. A strong inverse correlation was also found between the new magnitude method and previously published iron concentrations in seven brain regions (r = 20.982, P,0.001). Conclusions: Our study indicates that phase value may not be used for assessing the iron content in some brain region

Recent advances of metabolomics in plant biotechnology

Biotechnology, including genetic modification, is a very important approach to regulate the production of particular metabolites in plants to improve their adaptation to environmental stress, to improve food quality, and to increase crop yield. Unfortunately, these approaches do not necessarily lead to the expected results due to the highly complex mechanisms underlying metabolic regulation in plants. In this context, metabolomics plays a key role in plant molecular biotechnology, where plant cells are modified by the expression of engineered genes, because we can obtain information on the metabolic status of cells via a snapshot of their metabolome. Although metabolome analysis could be used to evaluate the effect of foreign genes and understand the metabolic state of cells, there is no single analytical method for metabolomics because of the wide range of chemicals synthesized in plants. Here, we describe the basic analytical advancements in plant metabolomics and bioinformatics and the application of metabolomics to the biological study of plants

ALMA IMAGING and GRAVITATIONAL LENS MODELS of SOUTH POLE TELESCOPE - SELECTED DUSTY, STAR-FORMING GALAXIES at HIGH REDSHIFTS

The South Pole Telescope has discovered 100 gravitationally lensed, high-redshift, dusty, star-forming galaxies (DSFGs). We present 0 5 resolution 870μm Atacama Large Millimeter/submillimeter Array imaging of a sample of 47 DSFGs spanning z = 1.9 5.7 - , and construct gravitational lens models of these sources. Our visibility-based lens modeling incorporates several sources of residual interferometric calibration uncertainty, allowing us to properly account for noise in the observations. At least 70% of the sources are strongly lensed by foreground galaxies (m870 m m &gt; 2), with a median magnification of m870 m m = 6.3, extending to m870 m m &gt; 30. We compare the intrinsic size distribution of the strongly lensed sources to a similar number of unlensed DSFGs and find no significant differences in spite of a bias between the magnification and intrinsic source size. This may indicate that the true size distribution of DSFGs is relatively narrow. We use the source sizes to constrain the wavelength at which the dust optical depth is unity and find this wavelength to be correlated with the dust temperature. This correlation leads to discrepancies in dust mass estimates of a factor of two compared to estimates using a single value for this wavelength. We investigate the relationship between the [C II] line and the far-infrared luminosity and find that the same correlation between the [C II]/LFIR ratio and SFIR found for low-redshift star-forming galaxies applies to high-redshift galaxies and extends at least two orders of magnitude higher in SFIR. This lends further credence to the claim that the compactness of the IR-emitting region is the controlling parameter in establishing the [C II] deficit

ISM Properties of a Massive Dusty Star-forming Galaxy Discovered at z ∼ 7

We report the discovery and constrain the physical conditions of the interstellar medium of the highest-redshift millimeter-selected dusty star-forming galaxy to date, SPT-S J031132-5823.4 (hereafter SPT0311-58), at z = 6.900 ± 0.002. SPT0311-58 was discovered via its 1.4 mm thermal dust continuum emission in the South Pole Telescope (SPT)-SZ survey. The spectroscopic redshift was determined through an Atacama Large Millimeter/submillimeter Array 3 mm frequency scan that detected CO(6-5), CO(7-6), and [C I](2-1), and subsequently was confirmed by detections of CO(3-2) with the Australia Telescope Compact Array and [C II] with APEX. We constrain the properties of the ISM in SPT0311-58 with a radiative transfer analysis of the dust continuum photometry and the CO and [C I] line emission. This allows us to determine the gas content without ad hoc assumptions about gas mass scaling factors. SPT0311-58 is extremely massive, with an intrinsic gas mass of Mgas 3.3±1.9×1011 M. Its large mass and intense star formation is very rare for a source well into the epoch of reionization

ISM Properties of a Massive Dusty Star-forming Galaxy Discovered at z ∼ 7

We report the discovery and constrain the physical conditions of the interstellar medium of the highest-redshift millimeter-selected dusty star-forming galaxy to date, SPT-S J031132-5823.4 (hereafter SPT0311-58), at z = 6.900 ± 0.002. SPT0311-58 was discovered via its 1.4 mm thermal dust continuum emission in the South Pole Telescope (SPT)-SZ survey. The spectroscopic redshift was determined through an Atacama Large Millimeter/submillimeter Array 3 mm frequency scan that detected CO(6-5), CO(7-6), and [C I](2-1), and subsequently was confirmed by detections of CO(3-2) with the Australia Telescope Compact Array and [C II] with APEX. We constrain the properties of the ISM in SPT0311-58 with a radiative transfer analysis of the dust continuum photometry and the CO and [C I] line emission. This allows us to determine the gas content without ad hoc assumptions about gas mass scaling factors. SPT0311-58 is extremely massive, with an intrinsic gas mass of M gas 3.3±1.9×10 1 1 M. Its large mass and intense star formation is very rare for a source well into the epoch of reionization