An interesting case of neurocutaneous syndrome

Neuroichthyosis is a group of rare genetically determined disease with cutaneous and neurological manifestations due to abnormalities in any of the following: lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. There are about 16 disorders with known genetic aetiology like Sjogren Larssons syndrome (SLS), Refsum disease, Gauchers disease type 2, ELOVL4 deficiency etc. Among the various neuroicthyosis syndromes, Sjogren Larsson syndrome is the most common entity characterised by ichthyosis, spastic diplegia or tetraplegia, cognitive dysfunction, seizures, and a maculopathy with glistening white dots. We hereby report a case of neuroichthyosis disease who presented to us with developmental delay, spastic paraplegia, seizure and ichthyosis, whose genetic testing showed homozygous mutation in ALDH3A2, suggestive of Sjogren Larsson syndrome.

In silico Analysis of 3D-QSAR and Molecular Docking for Bcl-2 Inhibitors to Potential Anticancer Drug Development.

Apoptosis control is characterized by a delicate balance between homo and hetero dimerization of pro- and anti-apoptosis members of the protein family. Inhibiting this protein protein interaction is one viable approach to cancer therapy. Anti-apoptosis the prosurvival family members Bcl-2, Mcl-1, and Bcl-XL are current targets for anti-cancer drug design. The chemotherapy has aroused many researchers‟ interests and a great deal of current efforts has been focusing on the design and development of various anticancer drugs. Ligand-based drug designing methods approaches through pharmacophore mapping and Three Dimention- Quantitative Structure Activity Relationship (3D-QSAR) are used in drug discovery as well as molecular docking to seek potential binding sites of the Bcl-2 protein and its inhibitors interactions. Dynamically predictive 3D-QSAR model with Pearson-r value (0.74), F (62.5), Standard Deviation (0.285) of the regression and Root Mean Square Deviation RMSE (0.321), Q2(0.514) that was obtained for binding affinity of Bcl-2 protein respectively. The bioinformatics techniques were proved that the development of good potential activity drug compound to cancer. To our knowledge the results describes anti-tumour activity of HEQ-1 drug compound promising to convey anti-tumour drug development.

Effect of exposure of foetal red cells to hydrogen peroxide.

Foetal and adult red cells were exposed to H2O2 vapours using two different modes of exposure. There was a two-fold increase in adult (P < 0.05) and three-fold increase in foetal (P < 0.05) cells after 8 h of exposure to H2O2 using the Cohen and Hochstein technique. When the H2O2 was generated in situ by the glucose-glucose oxidase technique, there was also an increase in formation of methaemoglobin in both cell types (P < 0.05). In the presence of sodium azide in both cell types, methaemoglobin was generated and there was a progressive increase in the formation of methaemoglobin with time of exposure in both cell types (P < 0.05) using either the Cohen and Hochstein procedure or the glucose-glucose oxidase procedure. There was significant difference in the methaemoglobin formation between the adult and foetal red cells throughout the period of exposure (P < 0.05). The ability of both cell types to reduce methaemoglobin the presence of added substrates (glucose, inosine, adenosine, lactate and sorbitol) showed an enhanced reduction of methaemoglobin in adult red cells for lall the substrates added and a slower rate of reduction of methaemoglobin to functional haemoglobin in foetal cells. There was significant difference in the percentage drop in the methaemoglobin formation between the adult and foetal red cells with all added substrates (P < 0.05). Our results showed that the foetal cells were more susceptible to oxidative stress than adult red cells.