Creatine Transporter Defect Diagnosed by Proton NMR Spectroscopy in Males With Intellectual Disability

Creatine deficiency syndrome due to mutations in X-linked SLC6A8 gene results in nonspecific intellectual disability (ID). Diagnosis cannot be established on clinical grounds and is often based on the assessment of brain creatine levels by magnetic resonance spectroscopy (MRS). Considering high costs of MRS and necessity of sedation, this technique cannot be used as a first level-screening test. Likewise, gene test analysis is time consuming and not easily accessible to all laboratories. In this article feasibility of urine analysis (creatine/creatinine (Cr/Crn) ratio) performed by nuclear magnetic resonance (NMR) as a first level-screening test is explored. Before running a systematic selection of cases a preliminary study for further molecular analysis is shown. NMR urine spectra (n = 1,347) of male patients with an ID without a clinically recognizable syndrome were measured. On the basis of abnormal Cr/Crn ratio, three patients with the highest values were selected for molecular analysis. A confirmatory second urine test was positive in two patients and diagnosis was further confirmed by a decreased brain creatine level and by SLC6A8 gene analysis. A de novo mutation was identified in one. Another patient inherited a novel mutation from the mother who also has a mild ID. A repeat urine test was negative in the third patient and accordingly creatine level in the brain and SLC6A8 gene analysis both gave a normal result. We conclude that Cr/Crn ratio measured by NMR for male patients represents a rapid and useful first level screening test preceding molecular analysis. © 2011 Wiley-Liss, Inc

Lipopolysaccharide modulates astrocytic S100B secretion: a study in cerebrospinal fluid and astrocyte cultures from rats

<p>Abstract</p> <p>Background</p> <p>Inflammatory responses in brain are primarily mediated by microglia, but growing evidence suggests a crucial importance of astrocytes. S100B, a calcium-binding protein secreted by astrocytes, has properties of a neurotrophic or an inflammatory cytokine. However, it is not known whether primary signals occurring during induction of an inflammatory response (e.g. lipopolysaccharide, LPS) directly modulate S100B.</p> <p>Methods</p> <p>In this work, we evaluated whether S100B levels in cerebrospinal fluid (CSF) and serum of Wistar rats are affected by LPS administered by intraperitoneal (IP) or intracerebroventricular (ICV) injection, as well as whether primary astrocyte cultures respond directly to lipopolysaccharide.</p> <p>Results</p> <p>Our data suggest that S100B secretion in brain tissue is stimulated rapidly and persistently (for at least 24 h) by ICV LPS administration. This increase in CSF S100B was transient when LPS was IP administered. In contrast to these S100B results, we observed an increase in in TNFα levels in serum, but not in CSF, after IP administration of LPS. In isolated astrocytes and in acute hippocampal slices, we observed a direct stimulation of S100B secretion by LPS at a concentration of 10 μg/mL. An involvement of TLR4 was confirmed by use of specific inhibitors. However, lower levels of LPS in astrocyte cultures were able to induce a decrease in S100B secretion after 24 h, without significant change in intracellular content of S100B. In addition, after 24 h exposure to LPS, we observed a decrease in astrocytic glutathione and an increase in astrocytic glial fibrillary acidic protein.</p> <p>Conclusions</p> <p>Together, these data contribute to the understanding of the effects of LPS on astrocytes, particularly on S100B secretion, and help us to interpret cerebrospinal fluid and serum changes for this protein in neuroinflammatory diseases. Moreover, non-brain S100B-expressing tissues may be differentially regulated, since LPS administration did not lead to increased serum levels of S100B.</p

A common framework for the evaluation of psychophysiological visual quality assessment

The assessment of perceived quality based on psychophysiological methods recently gained attraction as it potentiallyovercomes certain flaws of psychophysical approaches. Although studies report promising results, it is not possible toarrive at decisive and comparable conclusions that recommend the use of one or another method for a specific applicationor research question. The video quality expert group started a project on psychophysiological quality assessment to studythese novel approaches and to develop a test plan that enables more systematic research. This test plan comprises of a specificallydesigned set of quality annotated video sequences, suggestions for psychophysiological methods to be studied inquality assessment, and recommendations for the documentation and publications of test results. The test plan is presentedin this article.Celtc-Next 5G Perfecta (2018-00735

Holisms of communication: The early history of audio-visual sequence analysis

A central pillar of contemporary communication research is the analysis of filmed interactions between people. The techniques employed in such analysis first took on a recognizably modern form in the 1970s, but their roots go back to the earliest days of motion picture technology in the late nineteenth century. This book presents original essays accompanied by written responses which together create a dialogue exploring early efforts at audio-visual sequence analysis and their common goal to capture the "whole" of the communicative situation. The first three chapters of this volume look at the film-based research of Gestalt psychologists in Berlin as well as psychologists in the orbit of Karl and Charlotte Bühler in Vienna in the first decades of the twentieth century. Most of these figures – along with many other Central European scholars of this era – were driven into exile in the United States after the rise of National Socialism in the 1930s. This scientific migration led to the cross-pollination of communication studies in America, an outcome visible in the leading project in interaction research of the mid-twentieth century, the Natural History of an Interview. The following two chapters examine this project in its historical context. The volume closes with a critical edition of a treasure from the archives: the transcript of a speech delivered by Ray Birdwhistell, a key participant in the Natural History of an Interview project and founder of kinesics

Holisms of communication: The early history of audio-visual sequence analysis

A central pillar of contemporary communication research is the analysis of filmed interactions between people. The techniques employed in such analysis first took on a recognizably modern form in the 1970s, but their roots go back to the earliest days of motion picture technology in the late nineteenth century. This book presents original essays accompanied by written responses which together create a dialogue exploring early efforts at audio-visual sequence analysis and their common goal to capture the "whole" of the communicative situation. The first three chapters of this volume look at the film-based research of Gestalt psychologists in Berlin as well as psychologists in the orbit of Karl and Charlotte Bühler in Vienna in the first decades of the twentieth century. Most of these figures – along with many other Central European scholars of this era – were driven into exile in the United States after the rise of National Socialism in the 1930s. This scientific migration led to the cross-pollination of communication studies in America, an outcome visible in the leading project in interaction research of the mid-twentieth century, the Natural History of an Interview. The following two chapters examine this project in its historical context. The volume closes with a critical edition of a treasure from the archives: the transcript of a speech delivered by Ray Birdwhistell, a key participant in the Natural History of an Interview project and founder of kinesics

Holisms of communication: The early history of audio-visual sequence analysis

A central pillar of contemporary communication research is the analysis of filmed interactions between people. The techniques employed in such analysis first took on a recognizably modern form in the 1970s, but their roots go back to the earliest days of motion picture technology in the late nineteenth century. This book presents original essays accompanied by written responses which together create a dialogue exploring early efforts at audio-visual sequence analysis and their common goal to capture the "whole" of the communicative situation. The first three chapters of this volume look at the film-based research of Gestalt psychologists in Berlin as well as psychologists in the orbit of Karl and Charlotte Bühler in Vienna in the first decades of the twentieth century. Most of these figures – along with many other Central European scholars of this era – were driven into exile in the United States after the rise of National Socialism in the 1930s. This scientific migration led to the cross-pollination of communication studies in America, an outcome visible in the leading project in interaction research of the mid-twentieth century, the Natural History of an Interview. The following two chapters examine this project in its historical context. The volume closes with a critical edition of a treasure from the archives: the transcript of a speech delivered by Ray Birdwhistell, a key participant in the Natural History of an Interview project and founder of kinesics

Holisms of communication: The early history of audio-visual sequence analysis

A central pillar of contemporary communication research is the analysis of filmed interactions between people. The techniques employed in such analysis first took on a recognizably modern form in the 1970s, but their roots go back to the earliest days of motion picture technology in the late nineteenth century. This book presents original essays accompanied by written responses which together create a dialogue exploring early efforts at audio-visual sequence analysis and their common goal to capture the "whole" of the communicative situation. The first three chapters of this volume look at the film-based research of Gestalt psychologists in Berlin as well as psychologists in the orbit of Karl and Charlotte Bühler in Vienna in the first decades of the twentieth century. Most of these figures – along with many other Central European scholars of this era – were driven into exile in the United States after the rise of National Socialism in the 1930s. This scientific migration led to the cross-pollination of communication studies in America, an outcome visible in the leading project in interaction research of the mid-twentieth century, the Natural History of an Interview. The following two chapters examine this project in its historical context. The volume closes with a critical edition of a treasure from the archives: the transcript of a speech delivered by Ray Birdwhistell, a key participant in the Natural History of an Interview project and founder of kinesics

Holisms of communication: The early history of audio-visual sequence analysis

A central pillar of contemporary communication research is the analysis of filmed interactions between people. The techniques employed in such analysis first took on a recognizably modern form in the 1970s, but their roots go back to the earliest days of motion picture technology in the late nineteenth century. This book presents original essays accompanied by written responses which together create a dialogue exploring early efforts at audio-visual sequence analysis and their common goal to capture the "whole" of the communicative situation. The first three chapters of this volume look at the film-based research of Gestalt psychologists in Berlin as well as psychologists in the orbit of Karl and Charlotte Bühler in Vienna in the first decades of the twentieth century. Most of these figures – along with many other Central European scholars of this era – were driven into exile in the United States after the rise of National Socialism in the 1930s. This scientific migration led to the cross-pollination of communication studies in America, an outcome visible in the leading project in interaction research of the mid-twentieth century, the Natural History of an Interview. The following two chapters examine this project in its historical context. The volume closes with a critical edition of a treasure from the archives: the transcript of a speech delivered by Ray Birdwhistell, a key participant in the Natural History of an Interview project and founder of kinesics

Holisms of communication: The early history of audio-visual sequence analysis

A central pillar of contemporary communication research is the analysis of filmed interactions between people. The techniques employed in such analysis first took on a recognizably modern form in the 1970s, but their roots go back to the earliest days of motion picture technology in the late nineteenth century. This book presents original essays accompanied by written responses which together create a dialogue exploring early efforts at audio-visual sequence analysis and their common goal to capture the "whole" of the communicative situation. The first three chapters of this volume look at the film-based research of Gestalt psychologists in Berlin as well as psychologists in the orbit of Karl and Charlotte Bühler in Vienna in the first decades of the twentieth century. Most of these figures – along with many other Central European scholars of this era – were driven into exile in the United States after the rise of National Socialism in the 1930s. This scientific migration led to the cross-pollination of communication studies in America, an outcome visible in the leading project in interaction research of the mid-twentieth century, the Natural History of an Interview. The following two chapters examine this project in its historical context. The volume closes with a critical edition of a treasure from the archives: the transcript of a speech delivered by Ray Birdwhistell, a key participant in the Natural History of an Interview project and founder of kinesics

Holisms of communication: The early history of audio-visual sequence analysis

A central pillar of contemporary communication research is the analysis of filmed interactions between people. The techniques employed in such analysis first took on a recognizably modern form in the 1970s, but their roots go back to the earliest days of motion picture technology in the late nineteenth century. This book presents original essays accompanied by written responses which together create a dialogue exploring early efforts at audio-visual sequence analysis and their common goal to capture the "whole" of the communicative situation. The first three chapters of this volume look at the film-based research of Gestalt psychologists in Berlin as well as psychologists in the orbit of Karl and Charlotte Bühler in Vienna in the first decades of the twentieth century. Most of these figures – along with many other Central European scholars of this era – were driven into exile in the United States after the rise of National Socialism in the 1930s. This scientific migration led to the cross-pollination of communication studies in America, an outcome visible in the leading project in interaction research of the mid-twentieth century, the Natural History of an Interview. The following two chapters examine this project in its historical context. The volume closes with a critical edition of a treasure from the archives: the transcript of a speech delivered by Ray Birdwhistell, a key participant in the Natural History of an Interview project and founder of kinesics