Analysis of Mitochondrial DNA Sequences in Childhood Encephalomyopathies Reveals New Disease-Associated Variants

BACKGROUND: Mitochondrial encephalomyopathies are a heterogeneous group of clinical disorders generally caused due to mutations in either mitochondrial DNA (mtDNA) or nuclear genes encoding oxidative phosphorylation (OXPHOS). We analyzed the mtDNA sequences from a group of 23 pediatric patients with clinical and morphological features of mitochondrial encephalopathies and tried to establish a relationship of identified variants with the disease. METHODOLOGY/PRINCIPLE FINDINGS: Complete mitochondrial genomes were amplified by PCR and sequenced by automated DNA sequencing. Sequencing data was analyzed by SeqScape software and also confirmed by BLASTn program. Nucleotide sequences were compared with the revised Cambridge reference sequence (CRS) and sequences present in mitochondrial databases. The data obtained shows that a number of known and novel mtDNA variants were associated with the disease. Most of the non-synonymous variants were heteroplasmic (A4136G, A9194G and T11916A) suggesting their possibility of being pathogenic in nature. Some of the missense variants although homoplasmic were showing changes in highly conserved amino acids (T3394C, T3866C, and G9804A) and were previously identified with diseased conditions. Similarly, two other variants found in tRNA genes (G5783A and C8309T) could alter the secondary structure of Cys-tRNA and Lys-tRNA. Most of the variants occurred in single cases; however, a few occurred in more than one case (e.g. G5783A and A10149T). CONCLUSIONS AND SIGNIFICANCE: The mtDNA variants identified in this study could be the possible cause of mitochondrial encephalomyopathies with childhood onset in the patient group. Our study further strengthens the pathogenic score of known variants previously reported as provisionally pathogenic in mitochondrial diseases. The novel variants found in the present study can be potential candidates for further investigations to establish the relationship between their incidence and role in expressing the disease phenotype. This study will be useful in genetic diagnosis and counseling of mitochondrial diseases in India as well as worldwide

Automatic Composition Techniques for Video Production

Video production involves the process of capturing, editing, and composing video segments for delivery to a consumer. A composition must yield a coherent presentation of an event or narrative. This process can be automated if appropriate domain-specific metadata are associated with video segments and composition techniques are established. Automation leads to the support of dynamic composition and customization for applications such as news on demand. In this paper we present techniques to achieve dynamic, real-time, and cohesive video composition and customization. We also identify metrics for evaluation our techniques with respect to existing manually-produced video-based news. The results of such an evaluation show that the quality of automatic composition is comparable to, and in some cases, better than, broadcast news video composition. The results also validate the assertions on which the automatic composition techniques are based. Keywords: Video production, automatic compositi..

Easy Ed: An Integration of Technologies for Multimedia Education

The accessibility of the World Wide Web and its flexibility for conveying digital information in various forms makes it a convenient mode of communication for education. In this paper with the help of a distance learning application called "Easy Ed," we demonstrate how these properties of the World Wide Web along with a data model can be used to provide a classroom environment on the Internet. Easy Ed provides a rich medium for education that is achieved by integrating information across the different media types (text, video, audio, and graphics) in hyper-media form. Metadata conforming to the data model about different media types is stored in a relational database, which not only facilitates authoring but also makes it possible to reuse existing instructional material. Another unique concept of Easy Ed is the dynamic repurposing of content at the time of access. Dynamic information generation helps to customize information according to a user's level of comprehension, the informatio..

A survey of technologies for parsing and indexing digital video

Abstract–In the future we envision systems that will provide video information delivery services to customers on a very large scale. These systems must provide customers with mechanisms to select programs of their choice from live broadcasts. Customers should also be provided with easy means of browsing and accessing pre-recorded digital data (e.g., distributed digital multimedia libraries), and downloading data from other information sources. To be viable for such large information sets, these systems must understand customer preferences and tailor the available information to the customer’s needs. To support this vision, a number of issues must be addressed and obstacles overcome. Intuitive interfaces, powerful query formulation and evaluation techniques, comprehensive data models, and flexible presentation functionalities must be developed. To realize these components, an effective query evaluation engine with the capabilities of query resolution in different content-specific formats (e.g., by graphics, by image, by sound) and in different domain-specific models (e.g., database of movies, database of newsclips) should be present. Additionally, the digital video database will require an efficient indexing system for easy access to the stored information. In this paper we discuss existing research trends in thi

A Language to Support Automatic Composition of Newscasts

Video production involves the selection, manipulation, and composition of video segments to achieve a refined piece suitable for an intended audience. By associating metadata with each segment it is possible to automate this production process. For example, a mechanism is achievable for the purpose of creating dynamically assembled compositions for information customization applications including news-on-demand. In this paper we propose a grammar and associated production constraints necessary to facilitate automatic video composition in the news domain. The grammar encompasses composition based on content as well as structure of a newscast. In addition to providing a framework for logical composition of information, the grammar provides constraints for customization of information under bounds on playout duration or content selected by a user. We demonstrate how the language assists automatic information manipulation and composition of a newscast specifically when data are acquired fr..

Data Semantics for Improving Retrieval Performance of Digital News Video Systems

Abstract–We propose a novel four-step hybrid approach for retrieval and composition of video newscasts based on information contained in different metadata sets. In the first step, we use conventional retrieval techniques to isolate video segments from the data universe using segment metadata. In the second step, retrieved segments are clustered into potential news items using a dynamic technique sensitive to the information contained in the segments. In the third step, we apply a transitive search technique to increase the recall of the retrieval system. In the final step, we increase recall performance by identifying segments possessing creation-time relationships. A quantitative analysis of the performance of the process on a newscast composition shows an increase in recall by 59 % over the conventional keyword-based search technique used in the first step

Automatic Digital Video Production Concepts

Video production involves conceiving a story, shooting raw video footage, and editing the final piece. Editing involves manually cutting frames and frame sequences from the raw video and composing the sequences with special effects to render the production sequence of the original story concept. The introduction of digital video technology now greatly expedites this process and allows for novel automatic manipulation of recorded video segments without human intervention. One example is the automatic manipulation or composition of news video segments for personalized delivery to individuals. A digital video production system (DVPS) encompasses the acquisition, storage, selection/editing, composition, and customization of video data. A DVPS cannot operate completely automatically as a human needs to participate in the creation of the video data; however, we believe that it is possible to automate the subsequent steps with suitable restrictions and assumptions on the process. In this chap..