Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts

Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in GJA3, which was predicted to be pathogenic by structural analysis. Dominantly inherited variants in GJA3 are known to cause numerous types of cataracts in various populations. Our study represents the second case of recessive GJA3 allele, and the first report in African Americans. These results validate GJA3 as a bona fide gene for recessively inherited CC in humans.     

Synthesis and characterization of novel curcumin based polyurethanes varying diisocyanates structure

In this research work, novel polyurethanes (PUs) based on blends of curcumin/1,4-butane diol (BDO) by varying the structure of diisocyanates were prepared following step growth polymerization. Structural study of blends and various diisocyanates based PU through Fourier Transform Infrared (FTIR) spectroscopy confirmed the incorporation of curcumin into the backbone of the PU. The scanning electron microscopic (SEM) study confirmed the well dispersion of incorporated curcumin and homogeneity of surface of synthesized samples. The SEM results also indicated that surface morphology of synthesized samples much dependent on diisocynates structure. Moreover SEM images inferred that phase separation is more pronounced in aromatic diisocyanate based PU. The anti-bacterial and anti-fungal tests were performed against different strains in order to determine the biocompatibility of the curcumin based PU. The antimicrobial activity results revealed that the material having aromatic diisocyanate are more biocompatible than the aliphatic diisocyanates in the PU structure. On the whole, this work is actually a step towards the generation of novel biocompatible materials preferably useful for biomedical applications.     

Evolution and stability of 2-mercaptobenzimidazole inhibitor film upon Al alloy 6061

Journal of Applied Electrochemistry - Organic corrosion inhibitors have become competent alternatives to hazardous chrome conversion coatings due to their rapid adsorption over metal surfaces in...     

Effect of surface tension gradient on gas hold-up enhancement in aqueous solutions of electrolytes

The effect of addition of electrolytes on gas hold-up of air/water system was investigated experimentally in a laboratory scale bubble column. The experiments were carried out with four electrolytes, namely, NaCl, MgSO₄·7H₂O, Na₂SO₄ and CaCl₂·2H₂O and the concentrations of the solutions were varied from 0 to 0.3 mol/l. Enhancement of gas hold-up was observed for all four electrolytes at concentrations less than 0.1 mol/l. With the increase in concentration, the gas hold-up showed two different trends; in Na₂SO₄ and CaCl₂·2H₂O solutions, gas hold-up formed a sharp peak after the enhancement and leveled off at a value somewhat higher than that in water, whereas in NaCl and MgSO₄·7H₂O solutions, gas hold-up leveled off immediately after the enhancement without forming any peak. Experiments were also conducted to measure the surface tensions of the solutions with special focus in the low concentration region. A strong relation between the gas hold-up enhancement and the change of surface tension with the addition of electrolyte was found. It was also observed that the concentration at which maximum value of C(dσ/dC)² i.e. (concentration × surface tension gradient with respect to concentration²) is obtained corresponds to the concentration at which maximum gas hold-up enhancement occurs.     

Formulation development and optimization of alpha ketoglutarate nanoparticles for cyanide poisoning

The purpose of this research work was to formulate and evaluate alpha ketoglutarate nanoparticles as dry powder inhaler for treatment of cyanide poisoning. Non-polymeric particles were prepared by nano-precipitation technique using various stabilizers. Selection of co-solvent and stabilizer was a key to produce stabilized particles. A combination of lutrol F68 and PVA as a crystal growth inhibitor seems to be best in achieving minimum particle size of 110.2 nm. On the basis of preliminary trials a Box-Behnken statistical design was employed to study the effect of independent variables, drug concentration (X₁), stirring speed (X₂), stirring time (X₃), PVA concentration (X₄), poloxomer concentration (X₅) and volume of co-solvent (X₆) on average particle size. Particle size varied from 110 to 875 nm depending upon the significant terms. Optimized formulation was predicted at drug concentration (50 μg/ml), stirring speed (640 rpm), stirring time (1 min), PVA concentration (1%), poloxomer concentration (1.69%) and volume of co-solvent (30 ml) with 104.6% experimental validity. The nanosized particles were further characterized by X-ray diffraction (XRD), Differential Scanning Calorimetry (DSC), Nuclear Magnetic Resonance (NMR) and Fourier Transform Infrared Spectroscopy (FT-IR) analysis. The results of particle characterization indicate that there was no physical disparity when compared with the commercial α-KG sample.     

Amine-terminated aromatic and semi-aromatic hyperbranched polyamides: synthesis and characterization

A facile synthetic approach to aromatic and semiaromatic amine-terminated hyperbranched polyamides via direct polymerization of triamine (B₃) with different diacid chlorides (A₂) was explored. An aromatic triamine, 1,3,5-tris(4′-aminophenylcarbamoyl)benzene (TAPCB), was synthesized and monomers were characterized by elemental analysis, FTIR, ¹H and ¹³C NMR spectroscopy. Finally, the polycondensation reaction of TAPCB with terephthaloyl chloride (TPC), isophthaloyl chloride (IPC), sebacoyl chloride (SC) and adipoyl chloride (AC) resulted in the preparation of four hyperbranched polyamides i.e., HBPA 1, 2, 3 and 4, respectively. FTIR and ¹H NMR analyses confirmed the structures of the ensuing polymers and DB was found between 0.51–0.55. These thermally stable amorphous HBPAs were soluble in polar aprotic solvents at room temperature having glass transition temperatures (T_g) between 138–198 °C. Inherent viscosities (η_inh) and weight average molecular weights (M_w) were in the range of 0.27–0.35 dL/g and 1.3 × 10⁴–2.7 × 10⁴, respectively. Future prospects are envisaged.     

Pregnancy by Assisted Reproductive Technology Is Associated with Shorter Telomere Length in Neonates

Telomere length (TL) influences the development of lifestyle-related diseases, and neonatal TL may influence their prevalence. Various factors have been reported to affect neonatal TL. Although the fetus is exposed to multiple conditions in utero, the main factors affecting the shortening of neonatal TL are still not known. In this study, we sought to identify factors that influence fetal TL. A total of 578 mother-newborn pairs were included for TL analysis. TL was measured in genomic DNA extracted from cord blood samples using quantitative PCR. The clinical factors examined at enrollment included the following intrauterine environmental factors: maternal age, assisted reproductive technology (ART) used, body mass index (BMI), gestational diabetes mellitus (GDM), maternal stress, smoking, alcohol consumption, preterm delivery, small-for-gestational-age, neonatal sex, and placental weight. Univariate and multivariate regression analyses were used to verify the relationship between neonatal TL and these clinical factors. The median neonatal TL to single-copy gene ratio was 1.0. Pregnancy with ART was among the 11 factors associated with shorter neonatal TL. From multiple regression analysis, we determined that neonatal TL was significantly shorter for pregnancies in the ART group than in the other groups. We conclude that pregnancy with ART is associated with shorter neonatal TL.     

Citrulline malate supplementation does not improve German Volume Training performance or reduce muscle soreness in moderately trained males and females

Background

Use of supplements to aid performance is common practice amongst recreationally active individuals, including those without a sufficient evidence base. This investigation sought to assess whether acute supplementation with 8 g of citrulline malate (CM) (1.11: 1 ratio) would improve anaerobic performance.

Methods

A randomised double blind placebo control trial was employed, using a counterbalanced design. We recruited recreationally active men and women to take part in an isokinetic chair protocol, based on German Volume Training (GVT) whereby participants attempted to perform 10 sets of 10 repetitions against a force representing 70% of their peak concentric force.

Results

The number of repetitions achieved over the course of the GVT was 94.0?±?7.9 and 90.9?±?13.9 for placebo and CM respectively. There was no significant difference between the placebo and CM treatment for number of repetitions (P?=?0.33), isometric (P?=?0.60), concentric (P?=?0.38), or eccentric (P?=?0.65) peak force following the GVT. Total muscle soreness was significantly higher in the CM compared to the placebo treatment following the GVT protocol over 72 h (P?=?0.01); although this was not accompanied by a greater workload/number of repetitions in the CM group.

Conclusions

We conclude that an acute dose of CM does not significantly affect anaerobic performance using an isokinetic chair in recreational active participants. Practical implications include precaution in recommending CM supplementation. Coaches and athletes should be aware of the disparity between the chemical analyses of the products reviewed in the present investigation versus the manufacturers’ claims.