Search Results - "Nozu, Kandai"

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group by Kashtan, Clifford E, Ding, Jie, Garosi, Guido, Heidet, Laurence, Massella, Laura, Nakanishi, Koichi, Nozu, Kandai, Renieri, Alessandra, Rheault, Michelle, Wang, Fang, Gross, Oliver

“…Mutations in the genes COL4A3, COL4A4, and COL4A5 affect the synthesis, assembly, deposition, or function of the collagen IV α345 molecule, the major…”
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Rituximab therapy for refractory steroid-resistant nephrotic syndrome in children by Kamei, Koichi, Ishikura, Kenji, Sako, Mayumi, Ito, Shuichi, Nozu, Kandai, Iijima, Kazumoto

“…Patients with steroid-resistant nephrotic syndrome (SRNS) who develop resistance to immunosuppressive agents, defined as refractory SRNS, have poor renal…”
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Rituximab for childhood-onset, complicated, frequently relapsing nephrotic syndrome or steroid-dependent nephrotic syndrome: a multicentre, double-blind, randomised, placebo-controlled trial by Iijima, Kazumoto, Prof, Sako, Mayumi, MD, Nozu, Kandai, MD, Mori, Rintaro, MD, Tuchida, Nao, MD, Kamei, Koichi, MD, Miura, Kenichiro, MD, Aya, Kunihiko, MD, Nakanishi, Koichi, MD, Ohtomo, Yoshiyuki, MD, Takahashi, Shori, Prof, Tanaka, Ryojiro, MD, Kaito, Hiroshi, MD, Nakamura, Hidefumi, MD, Ishikura, Kenji, MD, Ito, Shuichi, MD, Ohashi, Yasuo, Prof

“…Summary Background Rituximab could be an effective treatment for childhood-onset, complicated, frequently relapsing nephrotic syndrome (FRNS) and…”
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How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists by Imafuku, Aya, Nozu, Kandai, Sawa, Naoki, Nakanishi, Koichi, Ubara, Yoshifumi

“…Both thin basement membrane nephropathy (TBMN) and autosomal dominant Alport syndrome (ADAS) are types of hereditary nephritis resulting from heterozygous…”
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A review of clinical characteristics and genetic backgrounds in Alport syndrome by Nozu, Kandai, Nakanishi, Koichi, Abe, Yoshifusa, Udagawa, Tomohiro, Okada, Shinichi, Okamoto, Takayuki, Kaito, Hiroshi, Kanemoto, Katsuyoshi, Kobayashi, Anna, Tanaka, Eriko, Tanaka, Kazuki, Hama, Taketsugu, Fujimaru, Rika, Miwa, Saori, Yamamura, Tomohiko, Yamamura, Natsusmi, Horinouchi, Tomoko, Minamikawa, Shogo, Nagata, Michio, Iijima, Kazumoto

“…Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. It is divided into…”
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Comprehensive genetic diagnosis of Japanese patients with severe proteinuria by Nagano, China, Yamamura, Tomohiko, Horinouchi, Tomoko, Aoto, Yuya, Ishiko, Shinya, Sakakibara, Nana, Shima, Yuko, Nakanishi, Koichi, Nagase, Hiroaki, Iijima, Kazumoto, Nozu, Kandai

“…Numerous disease-causing gene mutations have been identified in proteinuric diseases, such as nephrotic syndrome and glomerulosclerosis. This report describes…”
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Clinical, pathological, and genetic characteristics of cases with asymptomatic proteinuria not manifesting nephrotic syndrome at onset: a single-center retrospective study by Watanabe, Yoshitaka, Fujinaga, Shuichiro, Sakuraya, Koji, Ikeda, Hirokazu, Nozu, Kandai

“…Background Cases with asymptomatic proteinuria (ASP) not manifesting nephrotic syndrome often pathologically show focal segmental glomerulosclerosis (FSGS)…”
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Rituximab for nephrotic syndrome in children by Iijima, Kazumoto, Sako, Mayumi, Nozu, Kandai

“…Idiopathic nephrotic syndrome is the most common chronic glomerular disease in children. At least 20 % of children with this syndrome show frequent relapses…”
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Genetic autopsy and genetic counseling for a case of fatal oligohydramnios due to de novo 17q12 deletion syndrome by Hiromoto, Kana, Morisada, Naoya, Tairaku, Shinya, Nozu, Kandai, Iijima, Kazumoto, Funakoshi, Toru

“…We report here a fatal oligohydramnios case, which was suspected due to autosomal recessive polycystic kidney disease at first, but genetic analysis using…”
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Long use of continuous positive airway pressure protects against the development of treatment-requiring retinopathy of prematurity by Suga, Shutaro, Kyono, Yuki, Kido, Takumi, Nakasone, Ruka, Abe, Shinya, Ashina, Mariko, Nozu, Kandai, Fujioka, Kazumichi

“…Although preterm infant mortality is low, the proportion of patients with treatment-requiring retinopathy of prematurity (TR-ROP) is high in Japan. Various…”
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The association between prehospital vital signs of children and their critical clinical outcomes at hospitals by Kurosawa, Hiroshi, Shiima, Yuko, Miyakoshi, Chisato, Nezu, Mari, Someya, Maki, Yoshida, Minae, Nagase, Hiroaki, Nozu, Kandai, Kosaka, Yoshiyuki, Iijima, Kazumoto

“…Vital signs are important for patient assessment, but little is known about interpreting those of children in prehospital settings. We conducted an…”
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Clinicopathological significance of glomerular capillary IgA deposition in childhood IgA nephropathy by Shima, Yuko, Nakanishi, Koichi, Mukaiyama, Hironobu, Tanaka, Yu, Wada, Takuzo, Tanaka, Ryojiro, Kaito, Hiroshi, Nozu, Kandai, Sako, Mayumi, Iijima, Kazumoto, Yoshikawa, Norishige

“…Background IgA nephropathy (IgAN) is characterized by predominant mesangial IgA deposition. Some patients with IgAN demonstrate IgA deposition in glomerular…”
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Branchio-oto-renal syndrome: Comprehensive review based on nationwide surveillance in Japan by Morisada, Naoya, Nozu, Kandai, Iijima, Kazumoto

“…Branchio‐oto‐renal (BOR) syndrome is an autosomal dominant disorder characterized by branchiogenic malformation, hearing loss and renal anomalies. The…”
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Germline mosaicism is a pitfall in the diagnosis of “sporadic” X-linked Alport syndrome by Okamoto, Takayuki, Nozu, Kandai, Iijima, Kazumoto, Ariga, Tadashi

“…Approximately 80% of patients with Alport syndrome have X-linked Alport syndrome (XLAS), which is caused by mutations in the type IV collagen alpha 5 gene (…”
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Prevalence of Wilson disease based on genome databases in Japan by Yamaguchi, Hiroshi, Nagase, Hiroaki, Tokumoto, Shoichi, Tomioka, Kazumi, Nishiyama, Masahiro, Takeda, Hiroki, Ninchoji, Takeshi, Nagano, China, Iijima, Kazumoto, Nozu, Kandai

“…Background Wilson disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene. In 1984, Scheinberg and Sternlieb estimated the…”
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Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases by Kondo, Atsushi, Nagano, China, Ishiko, Shinya, Omori, Takashi, Aoto, Yuya, Rossanti, Rini, Sakakibara, Nana, Horinouchi, Tomoko, Yamamura, Tomohiko, Nagai, Sadayuki, Okada, Eri, Shima, Yuko, Nakanishi, Koichi, Ninchoji, Takeshi, Kaito, Hiroshi, Takeda, Hiroki, Nagase, Hiroaki, Morisada, Naoya, Iijima, Kazumoto, Nozu, Kandai

“…Gitelman syndrome is an autosomal recessive inherited salt-losing tubulopathy. It has a prevalence of around 1 in 40,000 people, and heterozygous carriers are…”
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Pseudo-Bartter syndrome in an infant without obvious underlying conditions: A case report by Toyoda, Junya, Adachi, Masanori, Ochi, Ayako, Okada, Yuki, Honda, Aiko, Mizuno, Katsumi, Nozu, Kandai

“…Pseudo-Bartter syndrome (PBS) develops owing to renal or extrarenal chloride loss, leading to hypokalemic alkalosis. Whereas most adult cases result from…”
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Clinical characteristics of HNF1B-related disorders in a Japanese population by Nagano, China, Morisada, Naoya, Nozu, Kandai, Kamei, Koichi, Tanaka, Ryojiro, Kanda, Shoichiro, Shiona, Shinichi, Araki, Yoshinori, Ohara, Shinichiro, Matsumura, Chieko, Kasahara, Katsuaki, Mori, Yukiko, Seo, Akane, Miura, Kenichiro, Washiyama, Miki, Sugimoto, Keisuke, Harada, Ryoko, Tazoe, Satoshi, Kourakata, Hiroyo, Enseki, Mayumi, Aotani, Daisuke, Yamada, Takeshi, Sakakibara, Nana, Yamamura, Tomohiko, Minamikawa, Shogo, Ishikura, Kenji, Ito, Shuichi, Hattori, Motoshi, Iijima, Kazumoto

“…Background Hepatocyte nuclear factor 1β ( HNF1B ), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD). Moreover, various phenotypes…”
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Mycophenolate Mofetil after Rituximab for Childhood-Onset Complicated Frequently-Relapsing or Steroid-Dependent Nephrotic Syndrome by Iijima, Kazumoto, Sako, Mayumi, Oba, Mari, Tanaka, Seiji, Hamada, Riku, Sakai, Tomoyuki, Ohwada, Yoko, Ninchoji, Takeshi, Yamamura, Tomohiko, Machida, Hiroyuki, Shima, Yuko, Tanaka, Ryojiro, Kaito, Hiroshi, Araki, Yoshinori, Morohashi, Tamaki, Kumagai, Naonori, Gotoh, Yoshimitsu, Ikezumi, Yohei, Kubota, Takuo, Kamei, Koichi, Fujita, Naoya, Ohtsuka, Yasufumi, Okamoto, Takayuki, Yamada, Takeshi, Tanaka, Eriko, Shimizu, Masaki, Horinochi, Tomoko, Konishi, Akihide, Omori, Takashi, Nakanishi, Koichi, Ishikura, Kenji, Ito, Shuichi, Nakamura, Hidefumi, Nozu, Kandai

“…Rituximab is the standard therapy for childhood-onset complicated frequently relapsing or steroid-dependent nephrotic syndrome (FRNS/SDNS). However, most…”
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Genetic Analysis of UGT1A1 Polymorphisms Using Preserved Dried Umbilical Cord for Assessing the Potential of Neonatal Jaundice as a Risk Factor for Autism Spectrum Disorder in Children by Horinouchi, Tomoko, Maeyama, Kaori, Nagai, Masashi, Mizobuchi, Masami, Takagi, Yasuko, Okada, Yuka, Kato, Takeshi, Nishimura, Mio, Kawasaki, Yoko, Yoshioka, Mieko, Takada, Satoshi, Matsumoto, Hisayuki, Nakamachi, Yuji, Saegusa, Jun, Fukushima, Sachiyo, Fujioka, Kazumichi, Tomioka, Kazumi, Nagase, Hiroaki, Nozu, Kandai, Iijima, Kazumoto, Nishimura, Noriyuki

“…Neonatal jaundice has been suggested as a perinatal risk factor for autism spectrum disorder (ASD). We examined UGT1A1 polymorphisms to assess the potential of…”
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