Research progress in related gene of autosomal recessive cutis laxa / 天津医药

@#Autosomal recessive cutis laxa is a common type of hereditary cutis laxa. Its pathogenesis is not completely clear, but involved genes and their corresponding functions and signaling pathways have gradually become the research focus. According to the latest research, the related genes and their responding signaling pathways not only provide a solid foundation for the pathogenesis of cutis laxa, but also indicate a direction for instructing healthy pregnancy and scientific nurture. This paper aims to review the recent advances in pathogenic genes and potential signaling pathways in autosomal recessive cutis laxa.

Case report and literature review of neonatal hemolysis induced by anti-E and anti-Ec combined with anti-Fyb / 天津医药

Hemolytic diseases of newborn (HDN) can cause miscarriage, premature birth, fetal edema, fetal intrauterine anemia and even fetal death in early pregnancy. Neonatus with HDN can have jaundice, anemia, hepatosplenomegaly, edema and nuclear jaundice sequelae. This article reviewed the diagnosis and treatment of two patients with HDN caused by anti-E and anti-Ec combined with anti-Fyb, and reviewed the relevant literature on the epidemilogy, the diagnosis and treatment of HDN in order to improve the understanding of the disease.

Case report and literature review of ATP6V0A2 gene mutation features of the patient with congenital cutis laxa / 天津医药

The incidence of autosomal recessive cutis laxa induced by ATP6VOA2 gene mutation is extremely low in neonates and rarely reported in China.There was one case of ATP6VOA2 gene mutations caused autosomal recessive cutis laxa diagnosed in Tianjin Children's Hospital.This article reviewed the diagnosis and treatment of the patient and reviewed the relevant literature,in order to improve the understanding of the disease.