p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

Aicardi-Goutières syndrome is an early-onset severe neurological disorder characterized by intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, and elevated interferon-α levels, thus mimicking congenital viral infections. It is a genetically heterogeneous condition and autosomal recessive and autosomal dominant forms with variations in seven genes known till date. Variations in RNASEH2C cause an autosomal recessive form of AGS.

Fetal inflammatory response syndrome (FIRS) and outcome of preterm neonates - a prospective analytical study.

Objectives: To estimate the incidence of fetal inflammatory response syndrome (FIRS) in preterm neonates and correlate it with immediate and one-year neurodevelopmental outcome.

Materials And Methods: This prospective observational analytical study, in preterm neonates with gestational age between 26 and 34 weeks was conducted from May 2014 to December 2015 in a tertiary care hospital in South India. FIRS was defined as the presence of either elevated levels of interleukin-6 (IL-6) in cord blood ≥11 pg/ml and/or the placental histopathology showing evidence of fetal inflammatory response.