A Clinico Genetic Analysis of Autosomal Dominant Spinocerebellar Ataxia in an Indian population

INTRODUCTION: Spinocerebellar ataxias are neurodegenerative diseases characterised by progressive degrees of cerebellar ataxia along with ophthalmoplegia and pyramidal signs with peripheral neuropathy. There are few studies looking at the prevalence of various subtypes in Indian populations. This study aims to look at the clinical features and do genetic testing for a population of familial cases of spinoocerebellar ataxia near Adigambarai village, Vellore and to ascertain clinic genetic co relations and also comparison with a hospital group of Spinocerebellar ataxia. OBJECTIVES: Neurological testing and pedigree analysis of an endemic area with familial cases of spinocerebellar ataxia and a hospital population of spinocerebellar ataxia and to ascertain clinico genetic correlates and also comparison of the hospital and familial groups with respect to age of onset, patterns of inheritance and clinical features. METHODS: The familial group of patients near Adigambarai village, Vellore would be subjected to a comprehensive neurological examination and also detailed pedigree analysis. Genetic testing would be done for both SCA-1 and also SCA-2 with extraction of DNA from buccal washings. Imaging and also nerve conductions and evoked potentials would be done. Hospital cases with positive family history presenting to CMC hospital, Vellore would also be looked at. The clinico genetic co relations and also comparison of the hospital and the familial cases would be looked at. RESULTS: 95 patients were recruited into the study of which 85 were from the familial group and 10 were from the hospital group. 18 % of the familial group-15 cases were clinically symptomatic while 70 of them were asymptomatic. The sporadic group were all symptomatic. Gait ataxia was the commonest symptom followed by limb in coordination, slurred speech, and bulbar dysfunction. Detailed analysis of the patterns of inheritance was done. The phenomenon of anticipation was seen along with the observation that paternally inherited cases had an earlier age of onset. Genetic testing revealed that all of the hospital cases as well as the 15 symptomatic cases were positive for SCA-1. Out of the asymptomatic cases. 21 of them were genetic testing positive. Some of them had subtle clinical signs and need to be followed up for age of onset and clinical manifestations. There were intra familial differences among the familial group as regards the age of onset and the clinical features. Comparison of the hospital and familial groups also revealed differences in the age of onset, severity of disease and also the clinical features. Imaging showed predominantly features of an OPCA pattern in the majority. MRS done showed features of reduced NAA and Choline in the pons and cerebellum. Abnormalities were also noted in the nerve conductions and evoked potentials. CONCLUSION: There were phenotypic heterogeneity in the familial groups as well as between the hospital and familial kindreds as regards age of onset and clinical features. Pedigree analysis showed significant earlier age of onset for paternal inheritance as well as a number of asymptomatic cases who were genetically positive. Long term follow up of these cases is needed

High performance hydrogen selective membranes prepared using rapid processing method

The production of hydrogen using membrane based reforming technology is one important application where the membrane is required to withstand high temperatures and pressures to achieve maximum efficiency from an equilibriumlimited reaction. Microporous silica membranes offer a viable alternative to polymer and metal composite membranes. The processing of silica membranes including sol-gel and chemical vapor deposition (CVD) methods are discussed adequately in the literature. The Sol-gel method allows for the precise control of pore structure while CVD results in chemically homogenous deposits inside the porous substrates to yield better selectivity. The main problem associated with these methods is the long processing times to prepare these membranes, resulting in increased cost of production for the processing of large batches. Here we report an advance in membrane processing that could drastically reduce membrane processing time without compromising performance

Amine impregnated porous silica gel sorbents synthesized from water-glass precursors for CO2 capturing

In this work, porous silica gel-solid beads have been made from economically affordable water-glass precursors via sol-gel nano casting technique. A stable nanometric silica sol was prepared first from water glass and studied for surface potential and sol to gel transition. A free-flow, injectable gel was obtained upon aging the sol which was then assembled into spherical silica beads in a chemical bath. A surface area of 304.7m2g-1 was obtained for water glass derived silica gel beads. These gel beads were impregnated with 3-aminopropyltrimethoxysilane (APTMS) and polyethylenimine (PEI) active functional groups at different percentages for turning the gel beads as sorbents for CO2 gas adsorption. The effect of amine loading on the thermal stability, morphology as well as porosity was studied and was correlated with CO2 adsorption values. Depending upon the amount of amine loaded in the gel support CO2 uptake was found varied. These amine modified silica gel porous adsorbents showed CO2 adsorption capacity at temperatures as low as 100°C; samples modified with 15wt% PEI had CO2 adsorption capacity of 1.16mmolg-1 at 50°C. © 2015 Elsevier B.V

Oxidative intramolecular cyclization reactions of Cinnamayl ethers mediated by cerium (IV) ammonium nitrate (CAN): a stereoselective synthesis of 3,4-trans-disubstitutedtetrahydrofuran derivatives

Various alkoxy-cinnamyl cinnamyl ethers and an alkoxy-cinnamyl prenyl ether underwent stereoselective oxidative cyclizations on treatment with a methanolic solution of cerium(IV) ammonium nitrate to afford 3,4-trans- disubstituted tetrahydrofuran derivatives. Different products were obtained under aerobic and anaerobic conditions

ORMOSIL–ZrO2 hybrid nanocomposites and coatings on aluminium alloys for corrosion resistance; A sol-gel approach

Corrosion resistant coatings are prepared from a hybrid nanocomposite aerogel derived from tri-functional silanes, methyltrimethoxysilane (MTMS) and glycidyloxypropyl trimethoxysilane (GPTMS) and from a zirconium isopropoxide (ZIP) precursor which acts as an inorganic nano-dispersion in an organically modified silane (ORMOSIL) matrix. A series of hybrid compositions of MTMS and GPTMS are prepared in which the amount of ZIP is varied. The variations in the pH, viscosity and gelation time of the prepared compositions are monitored. The wet alcogels thus obtained are homogenized in a solvent using an ultrasonicator followed by coating the suspension on aluminium alloys and glass substrates using a dip coating unit. The prepared coatings are further dried and annealed at 400 °C for 1 h. The wet alcogels are also dried under ambient conditions for seven days resulting in hybrid nanocomposite aerogel monoliths and are calcined at 400 °C. The hybrid nanocomposites and coatings are further characterized using X-ray diffraction analysis, Fourier transform infrared spectroscopy, BET surface area analysis, X-ray photoelectron spectroscopy, scanning electron microscopy (SEM), atomic force microscopy (AFM), UV-visible spectroscopy, potentiodynamic polarization and EIS measurements. The hybrid nanocomposite coated aluminium alloy shows enhanced corrosion protection when compared to the uncoated aluminium alloy. The anticorrosive feature of the ORMOSIL-ZrO2hybrid nanocomposite coatings makes them an important candidate in the field of protective environment resistant coatings

Studies on Bracing Member End Connections for Cold Formed Steel Sections

This paper is concentrated mainly on the behaviour of bracing end connections for cold formed steel lipped angle and lipped channel sections. For bracing members, only one flange is possible to connect with tower leg member or supporting member, which causes uneven distribution of stresses in the end section popularly known as shear lag effect. Tension tests have been carried out to simulate the bracing end connections. Special test rig has been assembled and end fittings fabricated such that the load will be applied as concentric load at the pulling end and on the other end load is transferred through the connected flange only. All the specimens have been instrumented with dial gauges, to study the deformations and one specimen is instrumented with strain gauges to study the strain variation. The failure load for tested joints has been calculated by using various International Standards and compared with the test results

Very low thermal conductivity in lanthanum phosphate-zirconia ceramic nanocomposites processed using a precipitation-peptization synthetic approach

A wet chemical synthetic approach involving precipitation-peptization mechanisms was successfully adopted for the development of LaPO4-ZrO2 nanocomposites with the ZrO2 content varying in the 5-20 wt% range. Stoichiometric lanthanum phosphate, formed as nanofibrils during the precipitation reaction with orthophosphoric acid, was subsequently transformed into nanorods of ~10 nm width and <100 nm length upon peptization at pH 2. Zirconia dispersions were homogeneously incorporated as ultrafine particulates through zirconium oxychloride hydrolysis using ammonia. The nanocomposite precursor thus obtained could be densified to >98% TD for the LaPO4-10 wt% ZrO2 composition upon sintering at 1600 °C. The addition of ZrO2 to LaPO4 impeded densification and grain growth inhibition of up to 50% was obtained for LaPO4-20 wt% ZrO2 nanocomposites. Furthermore, the nanocomposites indicated very low thermal conductivity values (1 W m-1 K-1) compared to single phase LaPO4. The non-reactivity of LaPO4 and ZrO2 at high temperatures and the low thermal conductivity values of LaPO4-ZrO2 render them effective for high temperature thermal insulation applications. © 2016 The Royal Society of Chemistry and the Centre National de la Recherche Scientifique

A double-blind randomized trial of fish oil to lower triglycerides and improve cardiometabolic risk in adolescents.

OBJECTIVES: To determine the efficacy of 4 g/day fish oil to lower triglycerides and impact lipoprotein particles, inflammation, insulin resistance, coagulation, and thrombosis. STUDY DESIGN: Participants (n = 42, age 14 ± 2 years) with hypertriglyceridemia and low-density lipoprotein (LDL) cholesterol/dL were enrolled in a randomized, double-blind, crossover trial comparing 4 g of fish oil daily with placebo. Treatment interval was 8 weeks with a 4-week washout. Lipid profile, lipoprotein particle distribution and size, glucose, insulin, high-sensitivity C-reactive protein, interleukin-6, fibrinogen, plasminogen activator inhibitor-1, and thrombin generation were measured. RESULTS: Baseline lipid profile was total cholesterol 194 (5.4) mg/dL (mean [SE]), triglycerides 272 (21) mg/dL, high-density lipoprotein cholesterol 39 (1) mg/dL, and LDL cholesterol 112 (3.7) mg/dl. LDL particle number was 1614 (60) nmol/L, LDL size was 19.9 (1.4) nm, and large very low-density lipoprotein/chylomicron particle number was 9.6 (1.4) nmol/L. Triglycerides decreased on fish oil treatment but the difference was not significant compared with placebo (-52 ± 16 mg/dL vs -16 ± 16 mg/dL). Large very low-density lipoprotein particle number was reduced (-5.83 ± 1.29 nmol/L vs -0.96 ± 1.31 nmol/L; P \u3c .0001). There was no change in LDL particle number or size. There was a trend towards a lower prothrombotic state (lower fibrinogen and plasminogen activator inhibitor-1; .10 \u3e P \u3e .05); no other group differences were seen. CONCLUSIONS: In children, fish oil (4 g/day) lowers triglycerides slightly and may have an antithrombotic effect but has no effect on LDL particles