Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.

Background: Methylmalonic acidemia (MMA), which is an autosomal recessive metabolic disorder, is caused by mutations in methylmalonyl-CoA mutase (MUT) gene. As a result, the conversion of methylmalonyl-CoA to succinyl-CoA is impaired in this disorder, leading to a wide range of clinical manifestations varying from no signs or symptoms to severe lethargy and metabolic crisis in newborn infants. Since identification of novel mutations in MUT gene can help discover the exact pathogenesis of MMA and also use these disease-causing mutations in prenatal diagnosis, this study was conducted to uncover the possible mutations in an Iranian couple with a deceased offspring clinically diagnosed as having organic acidemia.

MOF assistance synthesis of nanoporous double-shelled CuCoO hollow spheres for hybrid supercapacitors.

Design of complex hollow nanostructures of two or more transition metal oxides seems to be necessary to answer the demand for novel energy storage electrodes owning outstanding performance for advanced developments of modern electronics. Herein, we develop a metal-organic frameworks (MOFs) assistance self-templated method for the synthesis of double-shell CuCoO hollow spheres as battery-type electrode material with a large surface area of 93 m g. This electrode material reveals excellent electrochemical performance with an ultrahigh specific capacity of 701 C g at 2 A g.

Covalent-display of an active chimeric-recombinant tissue plasminogen activator on polyhydroxybutyrate granules surface.

Objective: To develop a deliberately engineered expression and purification system for an active chimeric-recombinant tissue plasminogen activator (crtPA) using co-expression with polyhydroxybutyrate (PHB) operon genes.

Results: Fusion of crtPA with PhaC-synthase simplified the purification steps through crtPA sedimentation with PHB particles. Moreover, the covalently immobilized crtPA was biologically active as shown in a chromogenic assay.

Associations between maternal anthropometric characteristics and infant birth weight in Iranian population.

Objective: To examine the (1) normal ranges of anthropometric and insulin resistance/sensitivity indices (homeostatic model assessment for insulin resistance, homeostatic model assessment for insulin sensitivity, and quantitative insulin sensitivity check index) for Iranian pregnant women and their newborns and (2) associations between maternal anthropometric and metabolic values and infants' birth weights among Iranian women.

Methods: Anthropometric and metabolic values of 163 singleton non-diabetic pregnant women in Tehran, Iran (2014) were collected before and during pregnancy and at delivery. Linear regression, multivariable regression, and Student t tests were used to evaluate correlations between birth weight and maternal variables.