Ichthyosis associated with rickets in two Indian children

We wish to report two cases of rickets due to vitamin D deficiency secondary to underlying ichthyotic skin disorder. The first case is of an 8-year-old male with history of multiple fluid-filled lesions over the body that would rupture to heal with thickening and scaling of skin, suggestive of epidermolytic hyperkeratosis, and the second is of a 14-year-old female with thick, large, quadrilateral scales over the extremities and back clinically consistent with lamellar ichthyosis. Both showed improvement with parenteral vitamin D3 and oral calcium supplements in addition to topical emollients

Enhancing Dye Degradation Property of MoO3 Nanoplates by Vanadium Doping

Nanomaterial based water degradation is becoming as a promising option in comparison to conventional water degradation methods. MoO _3 nanoparticles have been used as a nano adsorbent for methylene blue (MB) removal from aqueous solution. Here, effect of vanadium (V) element doping in MoO _3 on adsorption activity against MB was studied. 2%, 4%, 6% and 8% of V element doped MoO _3 nanoparticles were synthesized using surfactant free chemical method. All the synthesized nanoparticles were well characterized through different analysis tools to study their structural, morphological, and optical properties. Stability of particles in water with respect to time was also studied by zeta potential. Adsorption activity of all the samples were carried out and 8% doped MoO _3 nanoparticle was found to be most efficient. Moreover, the regeneration and reusability test of 8% doped MoO _3 nanoparticle was also successfully carried out

Automated algorithm development to assess survival of human neurons using longitudinal single-cell tracking: Application to synucleinopathy

The development of phenotypic assays with appropriate analyses is an important step in the drug discovery process. Assays using induced pluripotent stem cell (iPSC)-derived human neurons are emerging as powerful tools for drug discovery in neurological disease. We have previously shown that longitudinal single cell tracking enabled the quantification of survival and death of neurons after overexpression of α-synuclein with a familial Parkinson's disease mutation (A53T). The reliance of this method on manual counting, however, rendered the process labor intensive, time consuming and error prone. To overcome these hurdles, we have developed automated detection algorithms for neurons using the BioStation CT live imaging system and CL-Quant software. In the current study, we use these algorithms to successfully measure the risk of neuronal death caused by overexpression of α-synuclein (A53T) with similar accuracy and improved consistency as compared to manual counting. This novel method also provides additional key readouts of neuronal fitness including total neurite length and the number of neurite nodes projecting from the cell body. Finally, the algorithm reveals the neuroprotective effects of brain-derived neurotrophic factor (BDNF) treatment in neurons overexpressing α-synuclein (A53T). These data show that an automated algorithm improves the consistency and considerably shortens the analysis time of assessing neuronal health, making this method advantageous for small molecule screening for inhibitors of synucleinopathy and other neurodegenerative diseases

Inhibiting Stearoyl-CoA Desaturase Ameliorates α-Synuclein Cytotoxicity

Summary: The lack of disease-modifying treatments for neurodegenerative disease stems in part from our rudimentary understanding of disease mechanisms and the paucity of targets for therapeutic intervention. Here we used an integrated discovery paradigm to identify a new therapeutic target for diseases caused by α-synuclein (α-syn), a small lipid-binding protein that misfolds and aggregates in Parkinson’s disease and other disorders. Using unbiased phenotypic screening, we identified a series of compounds that were cytoprotective against α-syn-mediated toxicity by inhibiting the highly conserved enzyme stearoyl-CoA desaturase (SCD). Critically, reducing the levels of unsaturated membrane lipids by inhibiting SCD reduced α-syn toxicity in human induced pluripotent stem cell (iPSC) neuronal models. Taken together, these findings suggest that inhibition of fatty acid desaturation has potential as a therapeutic approach for the treatment of Parkinson’s disease and other synucleinopathies. : There are no treatments that target the underlying cause of synucleinopathies such as Parkinson’s disease. Using unbiased small-molecule phenotypic screening in yeast, Vincent et al. identify a potential therapeutic target, stearoyl-CoA desaturase (Ole1/SCD). Inhibiting SCD in human-derived neurons enhances their survival in the prescence of toxic α-synuclein. Keywords: α-synuclein, Parkinson’s disease, stearoyl-CoA desaturase, fatty acid desaturation, phenotypic drug screen, target identification, chemical genetics, vesicle traffickin