Genetic effects on gene expression across human tissues

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of diseas

Genetic effects on gene expression across human tissues

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease

Review on Pulse Therapy: A Novel Approach in the Treatment of Pemphigus Vulgaris

Objective: Pemphigus vulgaris, a fatal autoimmune mucocutaneous disorder commonly seen involving the oral cavity, has since along time remained a topic of concern regarding its treatment modalities. Pulse therapy, introduced in 1984, employs high-dose corticosteroids along with certain immunosuppressive agents and has gained wide popularity since the last three decades due to its advantage of minimizing the adverse effects of conventional corticosteroid therapy. This article provides a detailed review about various studies conducted utilizing different regimens in pulse therapy and the outcome of these studies. Materials and methods: Information from various studies conducted over the last three decades was collected and a thorough analysis of the results of these studies has been provided in this article. Results: Extensive review of the existing data revealed that pulse therapy minimizes the adverse effects of long-term corticosteroid therapy, controls the disease process faster and has quicker and long-lasting remission rates. Conclusion: Pulse therapy appears to be successful in the treatment of pemphigus vulgaris. Various studies have proven the efficacy of pulse therapy along with reduced side effects of conventional corticosteroid therapy. However, long-term follow-up is necessary to compare the incidence of malignancy in patients receiving pulse doses of immunosuppressive agents with that in patients receiving continuous oral treatmen

Extra Oral Periapical Radiography: A Review

Background: Intra oral periapical radiographs remain the backbone of diagnostic assessment of dento-facial pathologies. However, in some clinical situation like in developmentally disabled individuals, those with an exaggerated gag reflex, pediatric dental patients and anxious dental patients, it may be very difficult to obtain an intra-oral periapical radiograph of diagnostic quality. In such situations, extra oral periapical radiographs are very useful. They are obtained by placing a sensor outside the oral cavity and then making the radiographic exposure using a digital X ray machine for intra oral radiographs. The radiation dose in this technique is much lesser as compared to panoramic radiographs. This article reviews the technique, advantages, disadvantages and indications of extra oral periapical radiographs

Effect of co-expression of alpha-synuclein and leucine-rich repeat kinase 2 on the hallmark features of Parkinson’s disease in Drosophila melanogaster

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Prevalence of orofacial manifestations in HIV-positive South Indian children and the co-relation with CD4 counts

Objectives : Orofacial manifestations (OFMs) are seen early in the course of HIV disease in children and can also act as indicators for the presence of the disease. The objective of the study were to find the prevalence of OFMs of HIV in infected children, co-relate them with their CD4 counts and establish whether OFMs could be used as markers for disease progression. Materials and Methods : Using the diagnostic criteria recommended by the European Collaborative Clearinghouse (ECC) on oral problems related to HIV infection and WHO Collaborating Centre on oral manifestations of the HIV, 48 HIV-infected children were examined at the baseline and their CD4 counts were obtained. A follow-up was conducted 6 months later. Chi-Square test was used to analyse the data obtained. Results : OFM showed a high prevalence in HIV-infected children. The degree of immunosuppression was found to co-relate with the presence of OFMs. But, it could not be established that the presence of OFMs could be a marker for HIV disease progression. Conclusion : The results of our study indicated a high prevalence of OFMs in HIV-infected South Indian children. A decline in CD4 counts was found to be associated with more number of OFMs. However, we were unable to establish OFMs as markers for HIV disease progression. The sample size in our study being about 48 patients and the variability in the initiation and duration of HAART therapy, use of other drugs not being considered, may have an influence on the result of our study. Larger population groups, with parameters such as nutritional status and HAART initiation included, can probably give a more conclusive result.

Study of lip prints in different ethno-racial groups in India

Context (Background): Lips prints are unique and are a tool for personal identification. Aims: Indian population can be divided into different ethno-racial groups. In this study, we aimed at finding the most and the least prevalent lip print patterns in these groups and also to observe any similarities or differences that may exist in these groups in terms of lip print patterns. Settings and Design: Lip prints in 755 individuals categorized into different ethno-racial groups were studied. Materials and Methods: Brown- and pink-colored lipsticks, cellophane tape, and magnifying lens were used to record and study the lip prints. Results: Among all the three ethno-racial groups, Type I was the most prevalent lip print pattern observed. The least prevalent lip print pattern in all the three groups was Type IV. Inference/Conclusion: Lip prints hold potential as supplementary tools for identification where they can be recorded with ease. The observation and classification of lip print patterns in different ethno-racial groups not only provide some useful data but also open a new window to a field that can contribute extensively to criminal investigation and identification

Human immunodeficiency virus type-1 p24 sequence from an Indian strain: expression in Escherichia coli and implications in diagnostics

A 637-bp fragment, corresponding to the p24 human immunodeficiency virus (HIV) core protein from the gag ORF, was PCR amplified from DNA isolated from peripheral blood mononuclear lymphocytes (PBML) of an asymptomatic HIV-1 seropositive human subject from Bombay and cloned into PCRScript SK(+). The nucleotide sequence revealed highest homology (98.6%) with the consensus sequence of the HIV-1 B subtype. The 637-bp KpnI-HindIII fragment was cloned downstream from a His<SUB>6</SUB> tag in the pQE30 vector under the control of phage T5 promoter leading to production of a 6XHis-p24 fusion protein in Escherichia coli. It showed an approx. 24-kDa band by SDS-PAGE. The recombinant p24 reacted with serum samples from HIV-infected subjects when tested by Western blot and ELISA

Radiation Induced Hypoplasia of the Mandible and Retarded Tooth Development

Few cases of radiation-induced damage to the teeth and jaws, have been reported in the literature. Radiation therapy plays an important role in the treatment of patients affected with head and neck cancer. In spite of its recognized benefits in the treatment of malignant tumors, radiation therapy has several side-effects in the head and neck region. This paper highlights a case report where hypoplasia of the mandible, trismus and stunted permanent teeth roots were observed in an 18-year-old patient who was diagnosed with parameningeal rhabdomyosarcoma—embryonal type group III at the age of 5 years. He had received radiation therapy of 50 Gy to the nasopharynx for about 1 year and was reviewed for a period of 11 years. Full mouth periapical radiographs and panoramic radiograph revealed hypoplasia of the mandible and generalized hypoplasia of the roots of the permanent teeth