A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications.

Dusty core disease (DuCD) is a recently described form of congenital myopathy with clinicopathological implications. The presence of "dusty core fibers" is the defining myopathological feature of DuCD. Most cases have a recessive inheritance and harbor RYR1 mutations. I hereby describe a novel homozygous variant of RYR1 p.Ala3072Asp clinicopathologically compatible with DuCD. To the best of my knowledge, this is the first documented case of DuCD from India.

Production and characterization of polyhydroxybutyrate from Vibrio harveyi MCCB 284 utilizing glycerol as carbon source.

AIMS: Production and characterization of polyhydroxybutyrate (PHB) from moderately halophilic bacterium Vibrio harveyi MCCB 284 isolated from tunicate Phallusia nigra. METHODS AND RESULTS: Twenty-five bacterial isolates were obtained from tunicate samples and three among them exhibited an orange fluorescence in Nile red staining indicating the presence of PHB. One of the isolates, MCCB 284, which showed rapid growth and good polymer yield, was identified as V. harveyi. The optimum conditions of the isolate for the PHB production were pH 8·0, sodium chloride concentration 20 g l-1 , inoculum size 0·5% (v/v), glycerol 20 g l-1 and 72 h of incubation at 30°C. Cell dry weight (CDW) of 3·2 g l-1 , PHB content of 2·3 g l-1 and final PHB yield of 1·2 g l-1 were achieved. The extracted PHB was characterized by FTIR, NMR and DSC-TGA techniques. CONCLUSIONS: An isolate of V. harveyi that could effectively utilize glycerol for growth and PHB accumulation was obtained from tunicate P. nigra. PHB produced was up to 72% based on CDW. SIGNIFICANCE AND IMPACT OF THE STUDY: This is the first report of an isolate of V. harveyi which utilizes glycerol as the sole carbon source for PHB production with high biomass yield. This isolate could be of use as candidate species for commercial PHB production using glycerol as the feed stock or as source of genes for recombinant PHB production or for synthetic biology.

Controlling the morphology of gold nanoparticles synthesized photochemically in a polymer matrix through photonic parameters.

A facile method for the preparation of gold nanoparticles (AuNPs) with various morphologies, including triangles, cubes and nanospheres into a urethane methacrylate polymer matrix, has been developed. The hybrid nanocomposites have been obtained by photoreduction of a gold precursor in the presence of a 30 wt% urethane methacrylate containing quaternary ammonium structure and 70 wt% functional monomer, carboxyl oligo-urethane dimethacrylate. The final materials contain gold nanoparticles with a morphology dependant on the reaction conditions. The influence of photonic and chemical parameters on the shape of the nanoparticles has been examined. Specific interactions between the macromolecular network and the nascent particles play an important role insofar as they control the access of metal atoms to the different crystalline planes of the growing nanoparticles, which is necessary to obtain anisotropic objects. A common mechanism for the formation of the various types of AuNPs is proposed. Coupling the intrinsic characteristics of metal nanoparticles with those of the copolymer substrate could result in materials with innovative properties.

Spatially controlled synthesis of silver nanoparticles and nanowires by photosensitized reduction.

The present paper reports on the spatially controlled synthesis of silver nanoparticles (NPs) and silver nanowires by photosensitized reduction. In a first approach, direct photogeneration of silver NPs at the end of an optical fiber was carried out. Control of both size and density of silver NPs was possible by changing the photonic conditions. In a further development, a photochemically assisted procedure allowing silver to be deposited at the surface of a polymer microtip was implemented. Finally, polymer tips terminated by silver nanowires were fabricated by simultaneous photopolymerization and silver photoreduction. The silver NPs were characterized by UV-visible spectroscopy and scanning electron microscopy.

Muscle Biopsy: A Boon for Diagnosis of Mitochondrial Parkinsonism in Developing Countries.

Mitochondrial dysfunction plays an important role in the pathogenesis of Parkinson's disease. Primary genetic abnormalities in the mitochondrial DNA or nuclear DNA can cause parkinsonism. Mitochondrial parkinsonism presents with classical features of parkinsonism along with multisystem involvement. Genetic analysis is essential in reaching the diagnosis which is not always possible, especially in developing countries. Muscle biopsy can be a boon in this setting as exemplified in our report of two siblings where a diagnosis of mitochondrial parkinsonism was made on the basis of muscle biopsy.

Antibacterial properties and compressive strength of new one-step preparation silver nanoparticles in glass ionomer cements (NanoAg-GIC).

OBJECTIVES: This work aimed (1) to develop polyacid formulations by the one-step photoreduction of silver nanoparticles (AgNP) in a polyacrylate solution of conventional glass ionomer cement (GIC), imparting antibacterial activity; and (2) to evaluate handling and mechanical properties of experimental ionomers in comparison to a commercially available conventional GIC. METHODS: Formulations with increasing sub-stoichiometric amounts of AgNO3 were monitored during continuous UV light exposure by UV-vis spectroscopy and analyzed by transmission electron microscopy. The resulted synthesis of formulations containing small and disperse spherical nanoparticles (∼6 nm) were used to design the experimental nano-silver glass ionomer cements (NanoAg-GIC). The cements were characterized as to net setting time and compressive strength according to ISO 9917-1:2007 specifications. The antibacterial activity of these cements was assessed by Ag+ diffusion tests on nutritive agar plates (E. coli) and by MTT assay (S. mutans). RESULTS: The higher concentration of silver (0.50% by mass) in the matrix of NanoAg-GIC allowed viable net setting time and increased in 32% compressive strength of the experimental cement. All groups containing AgNP induced statistically significant E. coli growth inhibition zones (p-value <.05), indicating diffusion of Ag+ ions on the material surroundings. Metabolic activity of S. mutans grown on NanoAg-GIG with higher concentration of silver was significantly affected compared to control (p-value <.01). CONCLUSIONS: Silver nanoparticles one-step preparation in polyacrylate solution allowed the production of highly bioactive water-based cements within suitable parameters for clinical use and with large potential of dental and biomedical application.

Outcome of urethroplasty after parenteral testosterone in children with distal hypospadias.

INTRODUCTION: Pre-operative testosterone use in hypospadias surgery is known to increase penile dimensions and vascularity, which should facilitate tension-less formation of the urethral tube and tissue healing. However, androgens can have a negative effect on wound healing. There are very few randomized studies on postoperative results after androgen use, and this study attempted to understand the utility of pre-operative testosterone in distal hypospadias. OBJECTIVE: To study the effect of parenteral testosterone in children undergoing single stage urethroplasty for distal hypospadias, especially the occurrence of urethrocutaneous fistula and wound dehiscence. DESIGN: Patients were prospectively enrolled and randomized into two groups: Group 1 (control group) and Group 2 (receiving three injections of pre-operative intramuscular testosterone enanthate (2 mg/kg) at 1 monthly intervals; they were further subdivided into those operated 1 month (Group 2A) or 3 months (Group 2B) later. Patients with micropenis, previous testosterone use or any surgical intervention were excluded. Preputial skin was studied with hematoxylin and eosin (H&E) staining and CD31 immunohistochemistry. Patients were followed up for at least 18 months. RESULTS: Ninety four patients underwent urethroplasty over a 3.5-year period. Penile dimensions increased significantly after testosterone use (Summary table). On H&E staining, proliferating blood vessels and increased lymphocytic infiltrates were significantly increased in Group 2B. Group 2 patients tended to have more postoperative edema and inflammation. Although urethrocutaneous fistula rates were similar in Group 1 (n = 7) and Group 2 (n = 5) (P = 0.438), wound dehiscence occurred only in Group 2 (P = 0.01). DISCUSSION: The total number of patients in this study was small and this was a drawback. Although, several factors played a role in wound healing, the overall higher complication rate, especially wound dehiscence in Group 2, pointed to a higher incidence of inflammatory reaction and healing complication rates with testosterone use. CONCLUSION: Testosterone should be used judiciously in distal hypospadias. While tissue availability significantly increased, there was an increase in inflammatory reaction and edema, which increased the risk of wound dehiscence in cases of precocious surgery.