Publications by authors named "Saad Ahmed Seth"
Article Synopsis
- Embryonic development relies on precise DNA processes, and mutations in repair genes can cause neurodevelopmental disorders with symptoms like microcephaly and short stature.
- Researchers identified genetic variants in SLF2 and SMC5 from the RAD18-SLF1/2-SMC5/6 pathway in patients with developmental issues, including abnormal chromosomes and anemia.
- The new disorder, named Atelís Syndrome, demonstrates heightened replication stress and difficulties with specific DNA structures, emphasizing the crucial role of the SLF2-SMC5/6 pathway in preserving genome stability.
Risk factors and outcomes of early pulmonary hypertension in preterm infants.
J Matern Fetal Neonatal Med
December 2018
Purpose: Data on early pulmonary arterial hypertension (PAH) in preterm infants is limited and outcomes are conflicting. Our objectives are to examine the risk factors and neonatal outcomes of early onset PAH (EOPAH) diagnosed in the first 2 weeks of age in preterm infants in a large perinatal center.
Methods: We performed a case-control study to assess the risk factors and clinical outcomes of preterm infants with EOPAH.