101 research outputs found

    De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation

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    Chromosome rearrangements involving telomeres have been established as one of the major causes of idiopathic mental retardation/developmental delay. This case of 7p partial trisomy syndrome in a 3-year-old female child presenting with developmental delay emphasizes the clinical relevance of cytogenetic diagnosis in the better management of genetic disorders. Application of subtelomeric FISH technique revealed the presence of interstitial telomeres and led to the ascertainment of partial trisomy for the distal 7p segment localized on the telomeric end of the short arm of chromosome 19. Whole-genome cytogenetic microarray-based analysis showed a mosaic 3.5 Mb gain at Xq21.1 besides the approximately 24.5 Mb gain corresponding to 7p15.3- > pter. The possible mechanisms of origin of the chromosomal rearrangement and the clinical relevance of trisomy for the genes lying in the critical regions are discussed

    Low-cost interventions for big impacts in dryland production systems

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    A study at selected action sites in semi-arid region of Andhra Pradesh, India, showed widespread land degradation due to low levels of soil organic carbon (78% of fields) and deficiencies of available nutrients like phosphorus (34%), sulfur (93%), calcium (33%), zinc (84%), boron (73%), and copper (33%). Soil test-based addition of deficient micro- and macronutrients increased food grain production by 30–40% and straw (which is used as fodder) production by 10–30%. Micro-watershed scale low-cost cement-lined farm-ponds at smallholder farm level proved a scalable technology for drought-proofing of crops resulting into additional crop yield by more than 30% during 2015. Augmentation of water sources also facilitated farmers’ to successfully diversify the production system. Shared machinery resources improved the operational and economic efficiency of farm sowing operations through higher crop yields by around 10%. We conclude that a mix of low-cost critical interventions if out-scaled in a large number of dryland small holdings through policy support may not only improve productivity and livelihoods, but also enhance their abilities to effectively cope with the climatic aberrations

    Prospects of new chickpea varieties in Andhra Pradesh

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    Andhra Pradesh is an important chickpea growing state in southern India, with spectacular increase in chickpea area from 120,000 ha in 1997/98 to 638,000 ha in 2007/08. The chickpea revolution in Andhra Pradesh has improved the prospects of many resource-poor, small land holding and rainfed farmers of Andhra Pradesh. However, the growing season of chickpea in Andhra Pradesh is warm and short (90-110 days), and drought is the foremost factor responsible for significant yield losses. Rainfall in major chickpea-growing regions is quite uncertain and erratic, resulting in poor yields. The Regional Agricultural Research Station of Acharya N G Ranga Agricultural University, Nandyal, Andhra Pradesh, India is the lead centre responsible for location-specific research in chickpea in Andhra Pradesh. With support from ICRISAT and ICAR, the centre has initiated crop improvement programmes during 2004 and has released four promising chickpea varieties for commercial cultivation. Three desi varieties viz., Nandyal Sanaga 1(NBeG 3), Dheera (NBeG 47), and Nandyal Gram 49 (NBeG 49) released for Andhra Pradesh and one large-seeded kabuli Nandyal Gram 119 (NBeG 119) released for the southern zone comprising Andhra Pradesh, Karnataka and Tamil Nadu, are cutting across chickpea growing regions of Andhra Pradesh. Nandyal Sanaga 1, released in 2012, is a bold-seeded desi variety tolerant to drought and heat; Dheera released during 2015 is also a desi variety and the first of its kind in India, suitable for mechanical harvesting. Nandyal Gram 49 released during 2016 is a highyielding desi variety with attractive seeds; whereas Nandyal Gram 119 is early bold-seeded kabuli variety released during 2015. These varieties have clearly demonstrated their advantage (10%-15 % increase over popular varieties of the tract) in farmers’ holdings in large-scale demonstrations and are being preferred by farmers of not only Andhra Pradesh, but also Karnataka, Tamil Nadu, Odisha and Maharastra. Efforts are underway to promote large-scale adoption of these varieties to maximize long term productivity of chickpeas in rainfed vertisols

    Dynamic Changes in the MicroRNA Expression Profile Reveal Multiple Regulatory Mechanisms in the Spinal Nerve Ligation Model of Neuropathic Pain

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    Neuropathic pain resulting from nerve lesions or dysfunction represents one of the most challenging neurological diseases to treat. A better understanding of the molecular mechanisms responsible for causing these maladaptive responses can help develop novel therapeutic strategies and biomarkers for neuropathic pain. We performed a miRNA expression profiling study of dorsal root ganglion (DRG) tissue from rats four weeks post spinal nerve ligation (SNL), a model of neuropathic pain. TaqMan low density arrays identified 63 miRNAs whose level of expression was significantly altered following SNL surgery. Of these, 59 were downregulated and the ipsilateral L4 DRG, not the injured L5 DRG, showed the most significant downregulation suggesting that miRNA changes in the uninjured afferents may underlie the development and maintenance of neuropathic pain. TargetScan was used to predict mRNA targets for these miRNAs and it was found that the transcripts with multiple predicted target sites belong to neurologically important pathways. By employing different bioinformatic approaches we identified neurite remodeling as a significantly regulated biological pathway, and some of these predictions were confirmed by siRNA knockdown for genes that regulate neurite growth in differentiated Neuro2A cells. In vitro validation for predicted target sites in the 3′-UTR of voltage-gated sodium channel Scn11a, alpha 2/delta1 subunit of voltage-dependent Ca-channel, and purinergic receptor P2rx ligand-gated ion channel 4 using luciferase reporter assays showed that identified miRNAs modulated gene expression significantly. Our results suggest the potential for miRNAs to play a direct role in neuropathic pain
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