Haemophilic arthropathy is caused by recurrent bleeding into joint. The first bleeding episodes usually occurs in knee and ankles between 1 and 3 years old. In the pediatric patients with haemophilia, it is important to detect the joint damage as soon as possible because appropriate prophylaxis is provided. Ultrasonography is increasingly used for joint assessment recently. The purpose of this study is to present clinical importance of joint evaluation by the ultrasonography in the pediatric patients with haemophilia. Read More

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Tani Chihiro, Nakashima Yuko, Kume Shinji, Iida Makoto, Kobayashi Masao, Awai Kazuo

Keywords: Ultrasonography, Haemophilia

Enzyme replacement therapy (ERT) is approved for the treatment of mucopolysaccharidoses (MPS) I: Hurler syndrome (IH), Hurler-Scheie syndrome (IHS) and Scheie syndrome (IS), II: Hunter syndrome, and VI: Maroteaux-Lamy syndrome. However, ERT is thought to have no therapeutic effect on the central nervous system (CNS) because the enzyme could not permeate through the blood-brain barrier (BBB). We aimed to assess CNS involvement in MPS at the start of ERT and to evaluate the interval changes demonstrated on magnetic resonance imaging (MRI) over a long-term follow up. Read More

Meeting name: SPR 2017 Annual Meeting & Categorical Course , 2017

Authors: Matsubara Yoshiko, Miyazaki Osamu, Nosaka Shunsuke, Kosuga Motomichi, Okuyama Torayuki, Awai Kazuo

Keywords: mucopolysaccharidoses, enzymatic replacement therapy, magnetic resonance imaging