Pediatrics International

Cover image for Vol. 57 Issue 2

Edited By: Atsushi Manabe

Impact Factor: 0.731

ISI Journal Citation Reports © Ranking: 2013: 99/118 (Pediatrics)

Online ISSN: 1442-200X

Virtual Issue: How much do we know about intractable disease?

In the modern era, many would assume that the etiology and management of most human diseases have been established owing to current advances in knowledge and sophisticated technology. In reality, however, there are still a substantial number of diseases for which we have little or no information with regard to cause and treatment. In 1972, the Ministry of Health, Labor and Welfare (MHLW) defined “nanbyou”, that is, intractable disease, as follows: (i) disease that has resulted from an unidentifiable cause, does not have a clearly established treatment, and is associated with a considerably high risk of disability; and (ii) chronic disease, which requires a significant amount of labor for patient care, causing a heavy burden on family members, both financially and mentally. The Japan Intractable Diseases Information Center of the MHLW started a research initiative and, until recently, more than 130 diseases (e.g. aplastic anemia, multiple sclerosis, and amyloidosis) have been extensively studied. The government subsidizes the patient expenses associated with diagnosis and treatment ( In 2009, the disease category was extended to as many as 177, including many congenital or inherited conditions such as congenital biliary atresia, Marfan syndrome, and CINCA syndrome. I am convinced that most readers of the Journal have great interest in these disease categories and thus, we have assembled this review series to describe the current state of knowledge for a number of intractable diseases. No doubt, this rich body of literature, produced by experts in their respective fields, will serve as a leading source of information for both researchers and practitioners for many years to come.
Original resource:A review series begins: How much do we know about intractable disease? Atsushi Manabe

Juvenile fibromyalgia: Guidance for management
Shumpei Yokota, Masako Kikuchi and Takako Miyamae

DNA methylation errors in imprinting disorders and assisted reproductive technology
Hatsune Chiba, Hitoshi Hiura, Hiroaki Okae, Naoko Miyauchi, Fumi Sato, Akiko Sato and Takahiro Arima

Pathophysiology and genetic mutations in congenital sideroblastic anemia
Tohru Fujiwara and Hideo Harigae

Current research on chronic active Epstein–Barr virus infection in Japan
Shigeyoshi Fujiwara, Hiroshi Kimura, Ken-ichi Imadome, Ayako Arai, Eiichi Kodama, Tomohiro Morio, Norio Shimizu and Hiroshi Wakiguchi

Critical hepatic hemangioma in infants: Recent nationwide survey in Japan
Tatsuo Kuroda, Ken Hoshino, Shunsuke Nosaka, Yohko Shiota, Atsuko Nakazawa and Tetsuya Takimoto

Branchio-oto-renal syndrome: Comprehensive review based on nationwide surveillance in Japan
Naoya Morisada, Kandai Nozu and Kazumoto Iijima

Recent advances in Langerhans cell histiocytosis
Akira Morimoto, Yukiko Oh, Yoko Shioda, Kazuko Kudo and Toshihiko Imamura

Prevalence of Emanuel syndrome: Theoretical frequency and surveillance result
Tamae Ohye, Hidehito Inagaki, Takema Kato, Makiko Tsutsumi and Hiroki Kurahashi

Congenital hyperinsulinism: Global and Japanese perspectives
Tohru Yorifuji, Michiya Masue and Hironori Nishibori

Canavan disease: Clinical features and recent advances in research
Hideki Hoshino and Masaya Kubota

Pathophysiology and Japanese clinical characteristics in Marfan syndrome
Daishi Fujita, Norifumi Takeda, Yasushi Imai, Ryo Inuzuka, Issei Komuro and Yasunobu Hirata

Biochemical and clinical features of hereditary hyperprolinemia
Hiroshi Mitsubuchi, Kimitoshi Nakamura, Shirou Matsumoto and Fumio Endo

Diagnosis and treatment of urea cycle disorder in Japan
Kimitoshi Nakamura, Jun Kido, Hiroshi Mitsubuchi and Fumio Endo

Pelizaeus–Merzbacher disease: Cellular pathogenesis and pharmacologic therapy
Tomohiro Torii, Yuki Miyamoto, Junji Yamauchi and Akito Tanoue

Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review
Katsunori Fujii and Toshiyuki Miyashita

Children with short-limbed short stature in pediatric endocrinological services in Japan
Kosei Hasegawa and Hiroyuki Tanaka

Hereditary sensory and autonomic neuropathy types IV and V in Japan
Nobuhiko Haga, Masaya Kubota, Zenzo Miwa and behalf of the Japanese Research Group on Congenital Insensitivity to Pain

Diagnosis and treatment of hereditary tyrosinemia in Japa
Kimitoshi Nakamura, Shirou Matsumoto, Hiroshi Mitsubuchi and Fumio Endo

Inborn errors of ketone body utilization
Tomohiro Hori, Seiji Yamaguchi, Haruo Shinkaku, Reiko Horikawa, Yosuke Shigematsu, Masaki Takayanagi and Toshiyuki Fukao