Bioinformatic analysis of Rp1 gene causing visual disparity in humans

Retinitis pigmentosa (RP) is a group of inherited diseases that damage rod and cone cells located in human retina. A nonsense mutation R677X has been identified in RP1 gene which not only causes mRNA degradation but also results in truncated protein production leading towards visual disparity in humans. Secondary structure of RP1 gene was determined in order to elucidate the structural changes conferred due to nonsense mutation R677X. The structural differences among non mutated and mutated RP1 gene range from 23 to 43%. Similarly, the truncated protein also resulted in the loss of certain functional as well as active sites which were identified by predicting motifs. A detailed comparison between non mutated and mutated RP1 gene revealed the significance of R677X mutation causing significant structural (helix, turn, sheet and coil) as well as functional loss. Four domains of RP1 gene were predicted using ModWeb and SWISS – MODEL Comparative Modeling Server. The 3D structures of the domains were determined based upon the crystal structure of the homologous templates. The 3D structures were then verified using PROCHECK protein structure validation and verification tool. The quality of the structures obtained was good. This is also useful for future work for annotating the functions of protein using their structures.Keywords: Retinitis pigmentosa, secondary structure, comparative modelin

Synthesis of Substituted Gelatine Grafted Maleic Anhydride as Drug Copolymer

In this research the structural modification of gelatin(A1) was carried out with maleic anhydride as a grafted copolymer(A2) to enhance and add new function groups such as acid anhydride which can used to be easy substituted with amino drug such as Amoxilline (A3) ,this design of carries for controlled delivery of therapeutic agent which could release the entrapped drug over an extended period of time ,due to its non toxic ,biodegradable and slow digesting nature ,the new drug carries copolymer was characterized by FTIR and UV Spectroscopes. Thermal analysis was studied the prepared drug copolymer was analyzed in different pH values.at 37C0,as  in vitro study and controlled drug release was compared at zero time and after four days .Swelling percentage were calculated in water ,acidic and  basic medium . Keywords: Gelatin, Copolymer, Drug Copolyme

3,4-Dimethyl-2-(2-oxo-2-phenyl­eth­yl)-2H,4H-pyrazolo­[4,3-c][1,2]benzothia­zine-5,5-dione

In the title mol­ecule, C19H17N3O3S, the heterocyclic thia­zine ring adopts a half-chair conformation with the S and N atoms displaced by 0.530 (5) and 0.229 (6) Å, respectively, on opposite sides of the mean plane formed by the remaining ring atoms. The ethanone group lies at an angle of 3.8 (3)° with respect to the benzene ring, which lies almost perendicular to the pyrazole ring, with a dihedral between the two planes of 89.22 (11)°. Weak inter­molecular C—H⋯O hydrogen-bonding inter­actions are present

Population screening for glaucoma in UK : current recommendations and future directions

Funding Information: APK is funded by a UKRI Future Leaders Fellowship and an Alcon Research Institute Young Investigator Award.Effective population screening for glaucoma would enable earlier diagnosis and prevention of irreversible vision loss. The UK National Screening Committee (NSC) recently published a review that examined the viability, effectiveness and appropriateness of a population-based screening programme for primary open-angle glaucoma (POAG). In our article, we summarise the results of the review and discuss some future directions that may enable effective population screening for glaucoma in the future. Two key questions were addressed by the UK NSC review; is there a valid, accurate screening test for POAG, and does evidence exist that screening reduces morbidity from POAG compared with standard care. Six new studies were identified since the previous 2015 review. The review concluded that screening for glaucoma in adults is not recommended because there is no clear evidence for a sufficiently accurate screening test or for better outcomes with screening compared to current care. The next UK NSC review is due to be conducted in 2023. One challenge for POAG screening is that the relatively low disease prevalence results in too many false-positive referrals, even with an accurate test. In the future, targeted screening of a population subset with a higher prevalence of glaucoma may be effective. Recent developments in POAG polygenic risk prediction and deep learning image analysis offer potential avenues to identifying glaucoma-enriched sub-populations. Until such time, opportunistic case finding through General Ophthalmic Services remains the primary route for identification of glaucoma in the UK and greater public awareness of the service would be of benefit.Publisher PDFPeer reviewe

Structure, spectroscopy and cold collisions of the (SrNa)+^+ ionic system

We perform a study on extended adiabatic potential energy curves of nearly 38 states of 1,3$\Sigma^+$, 1,3$\Pi$ and 1,3$\Delta$ symmetries for the (SrNa)$^+$ ion, though only the ground and first two excited states are used for the study of scattering processes. Full Interaction Configuration (CI) calculations are carried out for this molecule using the pseudopotential approach. In this context, it is considered that two active electrons interact with the ionic cores and all single and double excitations were included in the CI calculations. A correction including the core-core electron interactions is also considered. Using the accurate potential energy data, the ground state scattering wave functions and cross sections are obtained for a wide range of energies. We find that, in order to get convergent results for the total scattering cross sections for energies of the order 1 K, one need to take into account at least 87 partial waves. In the low energy limit ( < 1 mK), elastic scattering cross sections exhibit Wigner law threshold law behavior while in the high energy limit the cross sections go as $E^{-1/3}$. A qualitative discussion about the possibility of forming the cold molecular ion by photoassociative spectroscopy is presented.Comment: accepted in EPJ

2-(3,4-Dimethyl-5,5-dioxo-2H,4H-pyrazolo­[4,3-c][1,2]benzothia­zin-2-yl)acetic acid

In the title mol­ecule, C13H13N3O4S, the heterocyclic thia­zine ring adopts a half-chair conformation in which the S and an adjacent C atom are displaced by 0.919 (3) and 0.300 (4) Å, respectively, on the same side of the mean plane formed by the remaining ring atoms. The mean planes of the benzene and pyrazole rings are inclined at a dihedral angle of 18.32 (12)° with respect to each other. The acetate group is oriented at 80.75 (8)° with respect to the pyrazole ring. The crystal structure is stabilized by O—H⋯N and C—H⋯O hydrogen bonds, resulting in fused eight- and seven-membered rings with R 2 2(8) and R 2 2(7) graph-set motifs, respectively

Age and site of Colonic Neoplastic Lesions: Implications of screening in South Asia.

Objective : To evaluate the Age of patients and the site of Colonic Neoplastic Lesions (CNL) and to determine the appropriate screening strategy for Colorectal Carcinoma (CRC) (sigmoidoscopy versus colonoscopy) in our population. Methods : This is a cross sectional study. Data of all patients more than 16 years of age who underwent full colonoscopic examination at the Aga Khan University hospital between January 2011 till December 2013 and were diagnosed to have CRC or advanced adenomas (defined as polyp more than 1 cm and/or having villous morphology on histology) was recorded. Lesions found distal to the splenic flexure were characterized as distal lesions and while lesions found between the splenic flexure and the cecum were characterized as proximal lesions. RESULTS: During the study period colonic neoplastic lesions were found in 217 patients; 186 (85.7%) patients had CRC and 31(14.3%) patients had advanced adenomatous polyps. Mean age was 55.8±14 years and amongst them 72 (33.2%) patients were less than 50 years of age while 145 (66.8%) were more than 50 years. In 144 (66.4%) patients lesions were located in the distal colon, 65 (30%) had lesions in the proximal colon while in 8 (3.7%) patients the neoplastic lesions were found both in the proximal and distal colon. The predominant symptoms were bleeding per rectum in 39.6% of patients followed by weight loss in 31.8% of patients. Only 3 patients had familial syndromes with multiple polyps. When patients younger than 50 years of age were compared with patients more than 50 years there was no statistically significant difference between the site of neoplastic lesion as well as the presenting symptoms. (p value 0.85). CONCLUSION: Colonic Neoplastic Lesions presented at younger age in our study population and one third of the lesions were found in the right sided colon. Hence screening for CNLs should be implied at an earlier age preferably with colonoscopy. More population based data is required to further validate our results

3-[(3-Benzoyl-4-hy­droxy-1,1-dioxo-2H-1λ6,2-benzothia­zin-2-yl)meth­yl]benzo­nitrile

There are two independent mol­ecules in the asymmetric unit of the title compound, C23H17N2O4S, with significant differences in their conformations, e.g. the benzene rings of the benzothia­zine and benzonitrile units are inclined at 28.19 (10) and 17.89 (7)° in the two mol­ecules, with the centroids of the rings separated by 3.975 (2) and 3.637 (2) Å, respectively. Moreover, the N—C—C—C torsion angles involving the benzoyl group are 14.3 (5) and 8.2 (5)° in the two mol­ecules, showing different degrees of rotation of this group. In both mol­ecules, the heterocyclic thia­zine rings adopt half-chair conformations, with the S and N atoms displaced by 0.427 (6) and 0.365 (6) Å, respectively, in one mol­ecule and by 0.356 (6) and 0.432 (6) Å, respectively, in the other, on opposite sides of the mean planes formed by the remaining ring atoms. The crystal structure is stabilized by inter­molecular C—H⋯O hydrogen bonds and further consolidated by intra­molecular O—H⋯O hydrogen bonds

2-(3,4-Dimethyl-5,5-dioxo-2H,4H-pyrazolo­[4,3-c][1,2]benzothia­zin-2-yl)-1-(4-meth­oxy­phen­yl)ethanone

In the title mol­ecule, C20H19N3O4S, the heterocyclic thia­zine ring adopts a half-chair conformation with the S and N atoms displaced by 0.492 (6) and 0.199 (6) Å, respectively, on opposite sides from the mean plane formed by the remaining ring atoms. The ethanone group lies at an angle of 9.4 (2)° with respect to the benzene ring, which lies almost perpendicular to the pyrazole ring, with a dihedral between the two planes of 78.07 (9)°. In the crystal, mol­ecules are linked by weak C—H⋯O hydrogen bonds

Isoprop­yl (3,4-dimethyl-5,5-dioxo-4H-pyrazolo­[4,3-c][1,2]benzothia­zin-2-yl)acetate

In the title mol­ecule, C16H19N3O4S, the heterocyclic thia­zine ring adopts a half-chair conformation, with the S and N atoms displaced by 0.547 (2) and −0.254 (3) Å, respectively, from the plane formed by the remaining atoms. In the crystal, weak C—H⋯N and C—H⋯O hydrogen bonds link the mol­ecules