85 Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome Tomoko Mitsuhashi, Katsuhiko Warita, Teruo Sugawara, Yoshiaki Tabuchi, Ichiro Takasaki, Takashi Kondo, Fumio Hayashi, Zhi-Yu Wang, Yoshiki Matsumoto, Takanori Miki, Yoshiki Takeuchi, Yasuhiko Ebina, Hideto Yamada, Noriaki Sakuragi, Toshifumi Yokoyama, Takashi Nanmori, Hiroshi Kitagawa, Je...

Considerable numbers of congenital cardiac anomalies are missed at the time of delivery. Study reports show that congenital cardiac anomalies are the second most common birth defect in many countries. Despite this fact, our previous study showed that the prevalence of congenital cardiac anomalies is the fifth most common one, indicating that many of these defects might not be properly diagnosed...

Current Opinion in Anaesthesiology 2008, 21:323–331 Purpose of review To evaluate the impact of recent research on the management of congenital diaphragmatic hernia in the light of new theories on embryological development, earlie antenatal diagnosis, fetal and postnatal interventions together with advances in perinata intensive care. Recent findings The year 2007 provided in excess of 200 publ...

the advancement in the healthcare systems, stringent interventions for infectious diseases and improved diet has significantly shifted the patterns of morbidities, and consequently hereditary and congenital anomalies (ca) and non-communicable diseases (ncds) have emerged as the most common causes of morbidity and mortality. in pakistan, there is no systematic health surveillance system to asses...

OBJECTIVES Congenital anomalies have been inconsistently associated with maternal crude estimated exposure to drinking water trihalomethane (THM). We investigated the relationship between individual THM uptake during the first trimester of pregnancy and congenital anomalies. METHODS We estimated maternal THM uptake for 3074 live births using residential tap water concentrations, drinking wate...

Introduction: Congenital anomalies are the most common cause of disability in developed and developing countries. Costs of hospitalization and treatment of congenital anomalies pose a significant burden to families and societies. The objective of the present study was to determine the associated risk factors and prevalence of congenital malformations in Ardabil, Iran. Methods: This cross-secti...