Growth and properties of semi-organic nonlinear optical crystal: L-Glutamic acid hydrochloride

Semiorganic nonlinear optical crystal of L-Glutamic acid hydrochloride(LGHC) was grown from aqueous solution by slow evaporation technique. Single crystal X-ray Diffraction analysis confirms that LGHC crystallizes in orthorhombic system with noncentrosymmetric space group P2_12_12_1. The powder X-ray diffraction study confirms the crystallinity of the grown crystal. The fundamental functional groups of the grown crystals were analyzed by Fourier Transform Infrared spectroscopic analysis in the range of 450–4000 cm~(-1). The range of optical transmission was ascertained using UV–vis–NIR studies. The Refractive Index of the LGHC crystal was found to be 1.4. The second harmonic generation efficiency of the LGHC was determined using Kurtz and Perry powder technique and it was 0.5 times greater than that of the KDP crystal. Thermo Gravimetric Analysis(TGA) and Differential Thermal Analysis(DTA) were used to study thermal behavior of the sample. The dielectric behavior and ac conductivity of the sample were studied as a function of frequency for different temperatures. The mechanical strength of the crystal was determined by Vicker's Hardness test. The elastic stiffness constant and yield strength of the sample was calculated.     

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.     

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

Chronic kidney disease (CKD) represents a major health burden. Its central feature of renal fibrosis is not well understood. By exome sequencing, we identified mutations in FAN1 as a cause of karyomegalic interstitial nephritis (KIN), a disorder that serves as a model for renal fibrosis. Renal histology in KIN is indistinguishable from that of nephronophthisis, except for the presence of karyomegaly. The FAN1 protein has nuclease activity and acts in DNA interstrand cross-link (ICL) repair within the Fanconi anemia DNA damage response (DDR) pathway. We show that cells from individuals with FAN1 mutations have sensitivity to the ICL-inducing agent mitomycin C but do not exhibit chromosome breakage or cell cycle arrest after diepoxybutane treatment, unlike cells from individuals with Fanconi anemia. We complemented ICL sensitivity with wild-type FAN1 but not with cDNA having mutations found in individuals with KIN. Depletion of fan1 in zebrafish caused increased DDR, apoptosis and kidney cysts. Our findings implicate susceptibility to environmental genotoxins and inadequate DNA repair as novel mechanisms contributing to renal fibrosis and CKD.     

Potentiation of the inhibition of xanthine oxidase by a combination of 6-mercaptopurine and 6-thioguanine

Summary Carcinostatic agents, 6-mercaptopurine and 6-thioguanine inhibited the in vitro and in vivo activity of the enzyme xanthine oxidase (xanthine-oxygen oxidoreductase E.C. 1.2.3.2.). Simultaneous, addition of a mixture of the 2 antimetabolites produced a synergistic effect on the inhibition of the enzyme activity.We thank the University Grants Commission, New Delhi, for their financial assistance and the Dean, M.G.M. Medical College Indore, for providing necessary facilities.     

Radiation protection of bone marrow lymphocytes by 2-mercaptopropionylglycine (MPG)

Summary The drug, MPG, when administered before irradiation, increases the radioresistance of bone marrow lymphocytes of mice to gamma rays and helps in promoting fast recovery, especially when exposed to sublethal dose.