Search Results - "Adachi, Eriko"

Parental awareness of Kawasaki disease features by Yamazaki, Yuta, Sugawara, Yuji, Nakajima, Keisuke, Adachi, Eriko, Hasegawa, Takeshi

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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

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Case of capecitabine‐induced severe erosional radiation recall dermatitis in a patient with breast cancer by Adachi, Eriko, Egawa, Gyohei, Kabashima, Kenji

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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…”
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Severe bullous pemphigoid in a metastatic lung cancer patient treated with pembrolizumab by Adachi, Eriko, Honda, Tetsuya, Nonoyama, Shoko, Irie, Hiroyuki, Yamamura, Kentaro, Otsuka, Atsushi, Kabashima, Kenji

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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…”
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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…”
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Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL by Suzuki, Yuri, Iemura, Ryosei, Sutani, Akito, Mizuno, Yuki, Adachi, Eriko, Ushiama, Mineko, Yoshida, Teruhiko, Hirata, Makoto, Hoshino, Akihiro, Yamomoto, Kurara, Akashi, Takumi, Nakano, Yoshiko, Isoda, Takeshi, Takasawa, Kei, Kato, Motohiro, Takagi, Masatoshi, Okamoto, Kentaro, Morio, Tomohiro, Kashimada, Kenichi

“…Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors often linked to underlying genetic variants. Genetic analysis can promote…”
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Atrophic autoimmune thyroiditis complicated with systemic lupus erythematosus by Wakatsuki, Ryosuke, Shimizu, Masaki, Shimbo, Asami, Adachi, Eriko, Kanamori, Toru, Yamazaki, Susumu, Udagawa, Tomohiro, Takasawa, Kei, Kashimada, Kenichi, Morio, Tomohiro, Mori, Masaaki

“…Atrophic autoimmune thyroiditis (AAT) is a type of autoimmune thyroiditis that causes hypothyroidism without thyroid enlargement. AAT is distinguished from…”
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Combined use of the GlideScope and fiberoptic bronchoscope for tracheal intubation in a patient with difficult airway by Ara, Takero, Mori, Gakushi, Adachi, Eriko, Asai, Takashi, Okuda, Yasuhisa

“…We report a case of successful tracheal intubation of a double-lumen tube with combined use of a videolaryngoscope (GlideScope) and a fiberoptic bronchoscope,…”
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A case of suspected dry tap during spinal anesthesia for caesarean section by Adachi, Eriko, Mori, Gakushi, Hashimoto, Yuichi, Saito, Tomoyuki, Okuda, Keiko, Yoshida, Shinji, Arai, Takero, Okuda, Yasuhisa

“…Spinal anesthesia was attempted in a 21-year-old woman for acute cesarean section with lumbar puncture at L3-4 and L4-5 in another hospital, but it was…”
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A Missense Mutation in Zinc Finger 4 of WT1 Might Lead to Focal Segmental Glomerular Sclerosis due to Its Mislocalization and Downstream Dysregulation: SA-PO743 by Kanamori, Toru, Udagawa, Tomohiro, Murakoshi, Miki, Adachi, Eriko, Okutsu, Mika, Mori, Takayasu, Sohara, Eisei, Uchida, Shinichi

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Effect of landiolol and combined use of landiolol and olprinone on hemodynamics in patients undergoing off-pump coronary artery bypass grafting by Tachikawa, Mayumi, Shimazaki, Mutsuhisa, Arai, Takero, Saima, Shunsuke, Adachi, Eriko, Okuda, Yasuhisa

“…Beta blockers are frequently used to reduce cardiac oxygen demand in off-pump coronary artery bypass grafting (OPCAB). However, significant bradycardia or…”
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A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency by Adachi, Eriko, Nakagawa, Ryuichi, Tsuji-Hosokawa, Atsumi, Gau, Maki, Kirino, Shizuka, Yogi, Analia, Nakatani, Hisae, Takasawa, Kei, Yamaguchi, Tomomi, Kosho, Tomoki, Murakami, Masanori, Tajima, Toshihiro, Hasegawa, Tomonobu, Yamada, Tetsuya, Morio, Tomohiro, Ohara, Osamu, Kashimada, Kenichi

“…Recently developed long-read sequencing (LRS) technology has been considered an option for CYP21A2 analysis. However, the clinical use of LRS for CYP21A2…”
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In Vitro Assessment of a Chemically Synthesized Shiga Toxin Receptor Analog Attached to Chromosorb P (Synsorb Pk) as a Specific Absorbing Agent of Shiga Toxin 1 and 2 by Takeda, Tae, Yoshino, Ken-ichi, Adachi, Eriko, Sato, Yuko, Yamagata, Kyoko

“…A synthetic analog of Shiga toxin (Stx) receptor (Synsorb Pk) was quantitatively assessed to determine whether it can protect human renal adenocarcinoma cells…”
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RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review by Uchida, Noboru, Ishii, Tomohiro, Nishimura, Gen, Sato, Takeshi, Kuratsuji, Gen, Nagasaki, Keisuke, Hosokawa, Yuki, Adachi, Eriko, Takasawa, Kei, Kashimada, Kenichi, Tsujioka, Yuko, Hasegawa, Tomonobu

“…Biallelic pathogenic variants in RMRP, the gene encoding the RNA component of RNase mitochondrial RNA processing enzyme complex, have been reported in…”
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Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan by Inoue, Kento, Miyamoto, Satoshi, Tomomasa, Dan, Adachi, Eriko, Azumi, Shohei, Horikoshi, Yasuo, Ishihara, Takashi, Osone, Shinya, Kawahara, Yuta, Kudo, Ko, Kato, Zenichiro, Ohnishi, Hidenori, Kashimada, Kenichi, Imai, Kohsuke, Ohara, Osamu, van Zelm, Menno C., Cowan, Morton J., Morio, Tomohiro, Kanegane, Hirokazu

“…Purpose Artemis is an exonuclease essential for V(D)J recombination and repair of DNA double-stranded breaks. Pathogenic variants in DCLRE1C encoding Artemis…”
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Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant by Kirino, Shizuka, Suzuki, Mitsuyoshi, Ogawa, Takuya, Takasawa, Kei, Adachi, Eriko, Gau, Maki, Takahashi, Ken, Ikeno, Mitsuru, Yamada, Mamiko, Suzuki, Hisato, Kosaki, Kenjiro, Moriyama, Keiji, Yoshida, Masayuki, Morio, Tomohiro, Kashimada, Kenichi

“…AMOTL1 is a member of the Motin protein family and localizes to tight junctions and is involved in cell polarity and paracellular permeability. Pathological…”
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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…”
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Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL by Suzuki, Yuri, Iemura, Ryosei, Sutani, Akito, Mizuno, Yuki, Adachi, Eriko, Ushiama, Mineko, Yoshida, Teruhiko, Hirata, Makoto, Hoshino, Akihiro, Yamomoto, Kurara, Akashi, Takumi, Nakano, Yoshiko, Isoda, Takeshi, Takasawa, Kei, Kato, Motohiro, Takagi, Masatoshi, Okamoto, Kentaro, Morio, Tomohiro, Kashimada, Kenichi

“…Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors often linked to underlying genetic variants. Genetic analysis can promote…”
Get full text