Search Results - "Takasawa, Kei"

Endocrinopathies in Inborn Errors of Immunity by Takasawa, Kei, Kanegane, Hirokazu, Kashimada, Kenichi, Morio, Tomohiro

“…Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more than 400 disorders, in which the immune system, including…”
Get full text

Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists by Takasawa, Kei, Nakamura-Utsunomiya, Akari, Amano, Naoko, Ishii, Tomohiro, Hasegawa, Tomonobu, Hasegawa, Yukihiro, Tajima, Toshihiro, Ida, Shinobu

“…To manage of 21-hydroxylase deficiency (21-OHD), transition medicine from pediatric to adult health care is an important process and requires individually…”
Get full text

Toward Improving the Transition of Patients With Congenital Adrenal Hyperplasia From Pediatrics to Adult Healthcare in Japan by Takasawa, Kei, Kashimada, Kenichi

“…The transition of patients with childhood-onset chronic diseases from pediatric to adult healthcare systems has recently received significant attention. Since…”
Get full text

Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child by Yamaguchi, Yohei, Takasawa, Kei, Irabu, Hitoshi, Hiratoko, Kanako, Ichigi, Yosuke, Hirata, Ko, Tamura, Yumie, Murakoshi, Miki, Yamashita, Motoi, Nakatani, Hisae, Shimoda, Masuhiro, Ishii, Taku, Udagawa, Tomohiro, Shimizu, Masaki, Kanegane, Hirokazu, Morio, Tomohiro

“…Patients with multisystem inflammatory syndrome in children (MIS-C) can develop clinical features resembling Kawasaki disease (KD). A full picture of MIS-C in…”
Get full text

Autonomously functioning thyroid nodule due to a somatic TSHR mutation by Iemura, Ryosei, Kirino, Shizuka, Sutani, Akito, Kashimada, Kenichi, Takasawa, Kei

Get full text

Monitoring hypoparathyroidism in long QT syndrome detected by electrocardiogram screening by Nakamura, Arisa, Adachi, Eriko, Matsubara, Yohei, Ishii, Taku, Hosokawa, Susumu, Kashimada, Kenichi, Takasawa, Kei

Get full text

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan by Yatsuga, Shuichi, Amano, Naoko, Nakamura-Utsunomiya, Akari, Kobayashi, Hironori, Takasawa, Kei, Nagasaki, Keisuke, Nakamura, Akie, Nishigaki, Satsuki, Numakura, Chikahiko, Fujiwara, Ikuma, Minamitani, Kanshi, Hasegawa, Tomonobu, Tajima, Toshihiro

“…Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis that causes various symptoms such as skeletal malformations, disorders of sex…”
Get full text

Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants by Yamauchi, Takeru, Imamura, Masatoshi, Takasawa, Kei, Nakajima, Keisuke, Nakagawa, Ryuichi, Gau, Maki, Sugie, Manabu, Taki, Atsuko, Kawai, Masahiko, Kashimada, Kenichi, Morio, Tomohiro

“…Hyperglycemia in extremely low-birth weight infants (ELBWIs) is frequently observed during the acute perinatal phase, (i.e., first 1–2 weeks postnatal period);…”
Get full text

The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients by Gau, Maki, Konishi, Kaoru, Takasawa, Kei, Nakagawa, Ryuichi, Tsuji‐Hosokawa, Atsumi, Hashimoto, Atsuko, Sutani, Akito, Tajima, Toshihiro, Hasegawa, Tomonobu, Morio, Tomohiro, Kashimada, Kenichi

“…Background One of the major purposes of newborn screening for 21‐hydroxylase deficiency (21OHD) is preventing life‐threatening adrenal crisis. However, the…”
Get full text

Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia by Matsuda, Nozomi, Takasawa, Kei, Ohata, Yasuhisa, Takishima, Shigeru, Kubota, Takuo, Ishihara, Yasuki, Fujiwara, Makoto, Ogawa, Erika, Morio, Tomohiro, Kashimada, Kenichi, Ozono, Keiichi

“…Hypophosphatasia (HPP; OMIM 241510, 241500, and 146300) is an inherited metabolic disease characterized by defects of bone and tooth mineralization, which is…”
Get full text

Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation by Takasawa, Kei, Miyakawa, Yuichi, Saito, Yoko, Adachi, Eriko, Shidei, Tsunanori, Sutani, Akito, Gau, Maki, Nakagawa, Ryuichi, Taki, Atsuko, Kashimada, Kenichi, Morio, Tomohiro

“…Background The most severe forms of congenital hyperinsulinism (CHI) are caused by inactivating mutations of two KATP channel genes, KCNJ11 and ABCC8…”
Get full text

Central diabetes insipidus developing in a 6-year-old patient 4 years after the remission of unifocal bone Langerhans cell histiocytosis by Nakatani, Hisae, Takasawa, Kei, Kashimada, Kenichi, Morimoto, Akira, Oshiba, Akihiro, Nagasawa, Masayuki

“…A six-year-old boy was referred with a one-and-a-half months history of polyuria and polydipsia. At the age of two, he had a single lytic bone lesion in his…”
Get full text

Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience by Takasawa, Kei, Iemura, Ryosei, Orimoto, Ryuta, Yamano, Haruki, Kirino, Shizuka, Adachi, Eriko, Saito, Yoko, Yamamoto, Kurara, Matsuda, Nozomi, Takishima, Shigeru, Shuno, Kumi, Tajima, Hanako, Sugie, Manabu, Mizuno, Yuki, Sutani, Akito, Okamoto, Kentaro, Masue, Michiya, Morio, Tomohiro, Kashimada, Kenichi

“…The most common cause of persistent hypoglycemia in newborns and children is congenital hyperinsulinism (CHI). Remarkable advancements in diagnostic tools and…”
Get full text

Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report by Kirino, Shizuka, Yogi, Analia, Adachi, Eriko, Nakatani, Hisae, Gau, Maki, Iemura, Ryosei, Yamano, Haruki, Kanamori, Toru, Mori, Takayasu, Sohara, Eisei, Uchida, Shinichi, Okamoto, Kentaro, Udagawa, Tomohiro, Takasawa, Kei, Morio, Tomohiro, Kashimada, Kenichi

“…The variants in the zinc finger (ZF) domains 1-3 in WT1 are one of the major causes of 46,XY disorders of sex development (DSD). Recently, variants in the…”
Get more information

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision) by Ishii, Tomohiro, Kashimada, Kenichi, Amano, Naoko, Takasawa, Kei, Nakamura-Utsunomiya, Akari, Yatsuga, Shuichi, Mukai, Tokuo, Ida, Shinobu, Isobe, Mitsuhisa, Fukushi, Masaru, Satoh, Hiroyuki, Yoshino, Kaoru, Otsuki, Michio, Katabami, Takuyuki, Tajima, Toshihiro

“…Congenital adrenal hyperplasia is a category of disorders characterized by impaired adrenocortical steroidogenesis. The most frequent disorder of congenital…”
Get full text

Complications of Listeria meningitis in two immunocompetent children by Shimbo, Asami, Takasawa, Kei, Nishioka, Masato, Morio, Tomohiro, Shimohira, Masayuki

Get full text

A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus by Nagatsuma, Misako, Takasawa, Kei, Yamauchi, Takeru, Nakagawa, Ryuichi, Mizuno, Tomoko, Tanaka, Eriko, Yamamoto, Kouhei, Uemura, Noriko, Kashimada, Kenichi, Morio, Tomohiro

“…Schimmelpenning syndrome is a rare neurocutaneous disorder categorized as a mosaic RASopathy due to postzygotic HRAS or KRAS mutations. We report a 6-year-old…”
Get full text

Shared Decision-Making in Growth Hormone Therapy-Implications for Patient Care by Acerini, Carlo L, Segal, David, Criseno, Sherwin, Takasawa, Kei, Nedjatian, Navid, Röhrich, Sebastian, Maghnie, Mohamad

“…Several studies have shown that adherence to growth hormone therapy (GHT) is not optimal. There are several reasons why patients may not fully adhere to their…”
Get full text

A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands by Gau, Maki, Suga, Ryota, Hijikata, Atsushi, Kashimada, Ayako, Takagi, Masatoshi, Nakagawa, Ryuichi, Takasawa, Kei, Shirai, Tsuyoshi, Kashimada, Kenichi, Morio, Tomohiro

“…NR5A1 and NR5A2 belong to an orphan nuclear receptor group, and approximately 60% of their amino acid sequences are conserved. Transcriptional regulation of…”
Get full text

Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young by Hosokawa, Yuki, Higuchi, Shinji, Kawakita, Rie, Hata, Ikue, Urakami, Tatsuhiko, Isojima, Tsuyoshi, Takasawa, Kei, Matsubara, Yohei, Mizuno, Haruo, Maruo, Yoshihiro, Matsui, Katsuyuki, Aizu, Katsuya, Jinno, Kazuhiko, Araki, Shunsuke, Fujisawa, Yasuko, Osugi, Koji, Tono, Chikako, Takeshima, Yasuhiro, Yorifuji, Tohru

“…Aims/Introduction Glucokinase–maturity‐onset diabetes of the young (GCK‐MODY; also known as MODY2) is a benign hyperglycemic condition, which generally does…”
Get full text