Identification of a Novel Homozygous Mutation in Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII.

Hereditary sensory autonomic neuropathy type VIII (HSAN-VIII) is a rare genetic disease that occurs due to mutations in the gene. Here, we describe a novel homozygous mutation c.826_840dupTGCAACCGCCGCTTC (p.

Prevalence of Chromosomal Abnormalities in Iranian Patients with Infertility.

Background: The numerical and structural abnormalities of chromosomes are the most common cause of infertility. Here, we evaluated the prevalence and types of chromosomal abnormalities in Iranian infertile patients.

Methods: We enrolled 1750 couples of reproductive age with infertility, who referred to infertility clinics in Tehran during 2014- 2019, in order to perform chromosomal analysis.

An Electrostatically Enhanced Phenol as a Simple and Efficient Bifunctional Organocatalyst for Carbon Dioxide Fixation.

An electrostatically enhanced phenol as a simple and competent bifunctional organocatalyst for the atom-economical conversion of epoxides to cyclic carbonates under environmentally benign conditions is described. Incorporating a positively charged center into phenols through a modular one-step synthesis results in a bifunctional system with enhanced acidity and reactivity, capable of epoxide activation, a halide nucleophilic ring-opening process, and CO incorporation in a synergistic fashion. A rational survey of the efficiency of different positively charged phenols and the influence of different parameters, such as temperature, catalyst loading, and the nature of the nucleophile, on catalytic activity was conducted.