Biotin metabolism defect - A case report

Defects in biotin metabolism are mainly associated with either the enzyme Biotinidase or Holocarboxylase synthetase. Defects in either enzymes depletes biotin utilization by the cells. Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This condition is inherited in an autosomal recessive pattern. We present a case of a 9 year old girl with atypical symptomology as a case holocarboxylase synthetase deficiency, who demonstrated an increased excretion of propionic and methyl malonic acids, with her biotinidase activity being normal. She demonstrated remarkable improvement on biotin supplementation.     

On a result of Ramanujan

This section of Resonance presents thought-provoking questions, and discusses answers a few months later. Readers are invited to send new questions, solutions to old ones and comments, to ‘Think It Over’, Resonance, Indian Academy of Sciences, Bangalore 560 080. Items illustrating ideas and concepts will generally be chosen.     

社会化媒体数据质量评价初探

首先阐述事务型数据与社会化媒体数据的概念与特性以及评价数据质量的内容和方法,然后对传统的数 据质量维度如准确性、完整性、一致性、可信性、时效性、可获取性和相关性等进行分析,认为在事务型数据和社会 化媒体数据中,各个质量维度的重要性有明显的不同,并确定可用于评价社会数据质量的质量维度。最后论述利用确 定的质量维度对社会化媒体数据质量进行管理与评估,通过实例分析提出相应的启示与建议。     

Learning to Individuate: The Specificity of Labels Differentially Impacts Infant Visual Attention

This study examined differences in visual attention as a function of label learning from 6 to 9 months of age. Before and after 3 months of parent‐directed storybook training with computer‐generated novel objects, event‐related potentials and visual fixations were recorded while infants viewed trained and untrained images (n = 23). Relative to a pretraining, a no‐training control group (n = 11), and to infants trained with category‐level labels (e.g., all labeled “Hitchel”), infants trained with individual‐level labels (e.g., “Boris,” “Jamar”) displayed increased visual attention and neural differentiation of objects after training.     

A dynamic intranet-based online-portal support for Computer Science teaching

This paper addresses the issue of effective content-delivery of Computer Science subjects taking advantage of a university intranet. The proposal described herein for teaching a subject like Combinatorics and Graph Theory (CGT) is to supplement lectures with a moderated online forum against an associated intranet portal, which is referred to as a CGT-portal. The contents of a CGT-portal in a university intranet is required to be assembled by moderators and students during the progress of the CGT course. When completed at the end of a CGT course, a CGT-portal may be seen as a restricted view of the Online Encyclopaedia of Integer Sequences (OEIS: see http://oeis.org—the restriction can be with respect to sequences in OEIS that are directly relevant to say CGT). In the context of OEIS, an integer- sequence enthusiast experiences this cycle: understand a page in OEIS-ponder over the contents-read afresh/refresh related content-suggest new additions to OEIS-wait for approval or rejection– repeat this cycle. This experience can be imparted to students of a CGT course with the help of a CGT-portal. For organizing a CGT course, a first task is to partially create a miniature OEIS-like instructor-moderated CGT-portal in a university intranet. During the course of lectures and tutorials in CGT, students are asked to explore/contribute to the CGT-portal and these may be critically augmented/approved by instructors suitably, to find a place in the portal. Moderation also includes feedbacks (in many sense, a form of guidance) to students using/contributing to, the portal. By this, many concepts can be conveyed to the students in an interesting way with the desired results. It is pointed out that the dynamic nature of a CGT-portal promotes active learning philosophy, the success of which depends on understanding the background and psychology of the student population. Some design guidelines associated with the building-up of a CGT-portal e.g., grouping of prerequisites of a logical page, knowledge-representation related observations, useful interfaces to the portal are also presented.     

Decoding non-coding DNA: Trash or treasure?

Non-coding DNA, once thought of as ‘junk’, represents a very large portion of an organism’s genome. However, recent research has brought to lightmany functional elements present within non-coding DNA sequences and unravelled a fascinating array of functions performed by these elements. These findings have highlighted the nature of the evolutionary forces that led to the accumulation and retention of non-coding DNA. In this article, the various elements present within noncoding DNA, their functional relevance to the cell and the changing perspective of the scientific community towards this so-called ‘junk’ DNA have been described.     

Cerebro-spinal and renal ochronosis: A rare case report

Alkaptonuria, a rare inborn error of tyrosine metabolism, characterized by the absence of homogentisic acid oxidase results in the accumulation of homogentisic acid in the body. Associated renal failure and cerebral infarction is rare and usually occurs in the later stages of the disease. We report a 55-year-old male who presented, initially with features of stroke and degenerative arthritis. He had pigmentation of sclerae, darkening of urine on long standing, abnormal renal profile, degenerative arthritis and cerebral infarction. Alkaptonuria was suspected and biochemical tests confirmed mild renal impairment, homogentisic acid in urine and homogentisic acid crystal was detected cytologically in urine sediment. Such a case of Alkaptonuric ochronosis with cerebrovascular and renal complications have been rarely reported in the previous literature.