hrp0092rfc9.1 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Targeted Next-Generation Sequencing for Congenital Hypothyroidism with Positive Neonatal TSH Screening Results

Yamaguchi Takeshi

Background and Objective: Congenital hypothyroidism (CH) is mostly detected with neonatal newborn screening (NBS). CH is the most common neonatal endocrine disorder with an incidence of 1:2,000-1:4,000. However the molecular etiology is sill poorly understood, considering pathogenic variations in candidate genes have been found only in 10-20 % of CH. We performed mutations screening of causative genes through a systematic Next Generation Sequencing (NGS) a...

hrp0092p3-54 | Diabetes and Insulin | ESPE2019

Relationship Between Chloride Infusion and Base Excess in Initial Treatment of Pediatric Diabetic Ketoacidosis

Sawano Kentaro , Nagamatsu Fusa , Shimura Kazuhiro , Abe Yuki , Izumita Yukie , Ogawa Yohei , Komatsu Nagisa , Takishima Shigeru , Nakamura Akie , Nyuzuki Hiromi , Yamaguchi Takeshi , Muroya Koji , Watanabe-Yamamoto Sayaka , Nagasaki Keisuke , Saitoh Akihiko , Hasegawa Yukihiro

Background: In initial treatment of DKA, volume expansion should begin with 0.9% saline to restore the peripheral circulation. The use of large amounts of chloride-rich/bicarbonate-free fluids may cause the rapid development of hyperchloremic metabolic acidosis, which is described in ISPAD Clinical Practice Consensus Guidelines 2018.The severity of DKA, defined by pH, HCO3- Base Excess (BE), is one of the factor...