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1. Clinical characteristics and outcomes of immune-complex membranoproliferative glomerulonephritis and C3 glomerulopathy in Japanese children

Author

Ueda, Chika, Horinouchi, Tomoko, Inoki, Yuta, Ichikawa, Yuta, Tanaka, Yu, Kitakado, Hideaki, Kondo, Atsushi, Sakakibara, Nana, Nagano, China, Yamamura, Tomohiko, Fujimura, Junya, Kamiyoshi, Naohiro, Ishimori, Shingo, Ninchoji, Takeshi, Kaito, Hiroshi, Shima, Yuko, Iijima, Kazumoto, Nozu, Kandai, and Yoshikawa, Norishige

Published
2024
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8. Rituximab in combination with cyclosporine and steroid pulse therapy for childhood-onset multidrug-resistant nephrotic syndrome: a multicenter single-arm clinical trial (JSKDC11 trial)

Author

Nozu, Kandai, Sako, Mayumi, Tanaka, Seiji, Kano, Yuji, Ohwada, Yoko, Morohashi, Tamaki, Hamada, Riku, Ohtsuka, Yasufumi, Oka, Masafumi, Kamei, Koichi, Inaba, Aya, Ito, Shuichi, Sakai, Tomoyuki, Kaito, Hiroshi, Shima, Yuko, Ishikura, Kenji, Nakamura, Hidefumi, Nakanishi, Koichi, Horinouchi, Tomoko, Konishi, Akihide, Omori, Takashi, and Iijima, Kazumoto

Published
2024
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12. Long-term outcome of combination therapy with corticosteroids, mizoribine and RAS inhibitors as initial therapy for severe childhood IgA vasculitis with nephritis

Author

Nagai, Sadayuki, Horinouchi, Tomoko, Ninchoji, Takeshi, Ichikawa, Yuta, Tanaka, Yu, Kitakado, Hideaki, Ueda, Chika, Kondo, Atsushi, Aoto, Yuya, Sakakibara, Nana, Kaito, Hiroshi, Tanaka, Ryojiro, Shima, Yuko, Fujimura, Junya, Kamiyoshi, Naohiro, Ishimori, Shingo, Nakanishi, Koichi, Yoshikawa, Norishige, Iijima, Kazumoto, and Nozu, Kandai

Published
2023
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14. Is influenza vaccination associated with nephrotic syndrome relapse in children? A multicenter prospective study

Author

Ishimori, Shingo, Horinouchi, Tomoko, Fujimura, Junya, Yamamura, Tomohiko, Matsunoshita, Natsuki, Kamiyoshi, Naohiro, and Sato, Mai

Subjects
Diseases -- Relapse, Influenza vaccines -- Complications and side effects, Nephrotic syndrome -- Risk factors -- Development and progression -- Demographic aspects, Health
Abstract

Background Prospective research of children receiving heterogeneous vaccines has shown that immunization is not associated with pediatric idiopathic nephrotic syndrome (NS) relapses. However, prospective data concentrating only on influenza (flu) virus vaccines are not available. Methods This multicenter prospective study was conducted in children with NS who received inactivated flu vaccines from June 2017 to July 2018. The day of flu vaccination was defined as day 0, and the period between prevaccination and postvaccination days was defined as - X to + Y (period from day - 180 to 0 as the precontrolled period). The primary outcome was the NS relapse rate from day 0 to + 30 as a direct association with vaccination compared with those in the precontrolled period. Exacerbation was defined as children experiencing more NS relapses after vaccination compared with those in the precontrolled period, or children starting any new immunosuppressants due to NS relapse after vaccination. Results Sixty-three children were included. Relapse rates were not significantly different between the precontrolled period and 0 to + 30 periods (0.38 vs. 0.19 times/person-year, p = 0.95). Although the exacerbation rate during the 0 to + 180 period in children without NS relapse in the precontrolled period was very low (4/54 [7.4 %]), children with at least one NS relapse in the precontrolled period showed a remarkable increase in the rate (4/9 [44.4%]; p = 0.01). Conclusions Flu vaccination did not significantly precipitate the direct relapse of NS in children. However, it might increase the disease activity in children with at least one NS relapse within a half year before vaccination. Graphical abstract, Author(s): Shingo Ishimori [sup.1] , Tomoko Horinouchi [sup.2] , Junya Fujimura [sup.3] , Tomohiko Yamamura [sup.2] , Natsuki Matsunoshita [sup.4] , Naohiro Kamiyoshi [sup.5] , Mai Sato [sup.6] , Masao [...]

Published
2023
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18. Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

Author

Barry, Alexandra, McNulty, Michelle T., Jia, Xiaoyuan, Gupta, Yask, Debiec, Hanna, Luo, Yang, Nagano, China, Horinouchi, Tomoko, Jung, Seulgi, Colucci, Manuela, Ahram, Dina F., Mitrotti, Adele, Sinha, Aditi, Teeninga, Nynke, Jin, Gina, Shril, Shirlee, Caridi, Gianluca, Bodria, Monica, Lim, Tze Y., Westland, Rik, Zanoni, Francesca, Marasa, Maddalena, Turudic, Daniel, Giordano, Mario, Gesualdo, Loreto, Magistroni, Riccardo, Pisani, Isabella, Fiaccadori, Enrico, Reiterova, Jana, Maringhini, Silvio, Morello, William, Montini, Giovanni, Weng, Patricia L., Scolari, Francesco, Saraga, Marijan, Tasic, Velibor, Santoro, Domenica, van Wijk, Joanna A. E., Milošević, Danko, Kawai, Yosuke, Kiryluk, Krzysztof, Pollak, Martin R., Gharavi, Ali, Lin, Fangmin, Simœs e Silva, Ana Cristina, Loos, Ruth J. F., Kenny, Eimear E., Schreuder, Michiel F., Zurowska, Aleksandra, Dossier, Claire, Ariceta, Gema, Drozynska-Duklas, Magdalena, Hogan, Julien, Jankauskiene, Augustina, Hildebrandt, Friedhelm, Prikhodina, Larisa, Song, Kyuyoung, Bagga, Arvind, Cheong, II, Hae, Ghiggeri, Gian Marco, Vachvanichsanong, Prayong, Nozu, Kandai, Lee, Dongwon, Vivarelli, Marina, Raychaudhuri, Soumya, Tokunaga, Katsushi, Sanna-Cherchi, Simone, Ronco, Pierre, Iijima, Kazumoto, and Sampson, Matthew G.

Published
2023
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21. Clinical and pathological investigation of oligomeganephronia

Author

Kitakado, Hideaki, Horinouchi, Tomoko, Masuda, Chika, Kondo, Atsushi, Nagai, Sadayuki, Aoto, Yuya, and Sakakibara, Nana

Subjects
Urine -- Analysis, Kidney function tests -- Analysis, Birth defects -- Diagnosis -- Care and treatment -- Genetic aspects, Glomerular filtration rate -- Measurement -- Health aspects, Health
Abstract

Background Oligomeganephronia (OMN) is a rare congenital anomaly involving the kidney and urinary tract, characterized by decreased number and compensatory hypertrophy of the nephron. It is caused by abnormal kidney development during the embryonic period, especially in patients with low birth weight; however, the actual etiology and clinical features remain unknown. We aim to reveal the clinical and pathological characteristics, treatment, and outcome. Methods Ten patients diagnosed with OMN between 2013 and 2020 were retrospectively investigated. The data were presented as the median ± interquartile range, and statistical significance was set at p < 0.05. Results The age at diagnosis was 14.1 years, the male-to-female ratio was 6:4, and only four cases were born with low birth weight. The estimated glomerular filtration rate (eGFR) was 62.2 mL/min/1.73 m.sup.2. The glomerulus diameter of OMN patients was significantly larger (217 vs. 154 [micro]m, p < 0.001) in OMN patients, and the number of glomeruli of OMN patients was lower (0.89 vs. 2.05/mm.sup.2, p < 0.001) than the control group. Eight of the ten cases were identified by urinary screening. Nine patients were treated with renin-angiotensin system (RAS) inhibitors, following which proteinuria successfully decreased or disappeared. Their median eGFR was also stable, 53.3 mL/min/1.73 m.sup.2. Conclusions As few symptoms can lead to OMN discovery, most patients were found during urine screening at school. Kidney dysfunction was observed in all patients at the time of kidney biopsy. Proteinuria has been significantly reduced and the decline rate of eGFR might be improved by RAS inhibitors. Graphical abstract 'A higher resolution version of the Graphical abstract is available as Supplementary information', Author(s): Hideaki Kitakado [sup.1] , Tomoko Horinouchi [sup.1] , Chika Masuda [sup.1] , Atsushi Kondo [sup.1] , Sadayuki Nagai [sup.1] , Yuya Aoto [sup.1] , Nana Sakakibara [sup.1] , Takeshi [...]

Published
2023
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23. 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

Author

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, and Nishimura, Noriyuki

Abstract

Neonatal jaundice has been suggested as a perinatal risk factor for autism spectrum disorder (ASD). We examined UGT1A1 polymorphisms to assess the potential of neonatal jaundice as a risk factor for ASD in children by using DNA extracted from preserved umbilical cord. In total, 79 children with ASD were genotyped for "UGT1A1*28" (c.-41-40dup), "UGT1A1*6" (c.211 G > A), and "UGT1A1*27" (c.686 C > A). The allele frequency of "UGT1A1*6" (OR = 1.34, p = 0.26) and "UGT1A1*28" (OR = 0.80, p = 0.54) and the prevalence of "UGT1A1*28/*6" diplotypes did not differ significantly from those in the control population. No "UGT1A1*27" allele was detected in the subjects. ASD symptom assessment scores were not associated with "UGT1A1*28/*6/*27" genotypes or "UGT1A1*28/*6" diplotypes. These results suggest that neonatal jaundice is not significantly associated with ASD.

Published
2022
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25. A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants

Author

Malakasioti, Georgia, Iancu, Daniela, Milovanova, Anastasiia, Tsygin, Alexey, Horinouchi, Tomoko, Nagano, China, Nozu, Kandai, Kamei, Koichi, Fujinaga, Shuichiro, Iijima, Kazumoto, Kang, Hee Gyung, Sinha, Rajiv, Basu, Biswanath, Morello, William, Montini, Giovanni, Waters, Aoife, Boyer, Olivia, Yıldırım, Zeynep Yürük, Yel, Sibel, Dursun, İsmail, McCarthy, Hugh J., Vivarelli, Marina, Prikhodina, Larisa, Besouw, Martine T.P., Chan, Eugene Yu-hin, Huang, Wenyan, Kemper, Markus J., Loos, Sebastian, Prestidge, Chanel, Wong, William, Zlatanova, Galia, Ehren, Rasmus, Weber, Lutz T., Chehade, Hassib, Hooman, Nakysa, Tkaczyk, Marcin, Stańczyk, Małgorzata, Miligkos, Michael, and Tullus, Kjell

Published
2023
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26. An updated view of the pathogenesis of steroid-sensitive nephrotic syndrome

Author

Horinouchi, Tomoko, Nozu, Kandai, and Iijima, Kazumoto

Subjects
Nephrotic syndrome -- Diagnosis -- Development and progression -- Genetic aspects, Health
Abstract

Idiopathic nephrotic syndrome is the most common childhood glomerular disease. Most forms of this syndrome respond to corticosteroids at standard doses and are, therefore, defined as steroid-sensitive nephrotic syndrome (SSNS). Immunological mechanisms and subsequent podocyte disorders play a pivotal role in SSNS and have been studied for years; however, the precise pathogenesis remains unclear. With recent advances in genetic techniques, an exhaustive hypothesis-free approach called a genome-wide association study (GWAS) has been conducted in various populations. GWASs in pediatric SSNS peaked in the human leukocyte antigen class II region in various populations. Additionally, an association of immune-related CALHM6/FAM26F, PARM1, BTNL2, and TNFSF15 genes, as well as NPHS1, which encodes nephrin expressed in podocytes, has been identified as a locus that achieves genome-wide significance in pediatric SSNS. However, the specific mechanism of SSNS development requires elucidation. This review describes an updated view of SSNS pathogenesis from immunological and genetic aspects, including interactions with infections or allergies, production of circulating factors, and an autoantibody hypothesis., Author(s): Tomoko Horinouchi [sup.1] , Kandai Nozu [sup.1] , Kazumoto Iijima [sup.2] [sup.3] Author Affiliations: (1) grid.31432.37, 0000 0001 1092 3077, Department of Pediatrics, Kobe University Graduate School of Medicine, [...]

Published
2022
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27. Use of renin-angiotensin system inhibitors as initial therapy in children with Henoch-Schönlein purpura nephritis of moderate severity

Author

Nagai, Sadayuki, Horinouchi, Tomoko, Ninchoji, Takeshi, Kondo, Atsushi, Aoto, Yuya, Ishiko, Shinya, and Sakakibara, Nana

Subjects
Renin-angiotensin system -- Dosage and administration, Proteinuria -- Complications and side effects -- Care and treatment, Clinical pathology -- Analysis, Schonlein-Henoch purpura -- Development and progression -- Care and treatment, Health
Abstract

Background Cases of Henoch-Schönlein purpura nephritis (HSPN) with moderate severity were demonstrated to achieve good prognosis after treatment with renin-angiotensin system (RAS) inhibitors. However, some patients required additional treatment for recurrence after remission. This study aimed to clarify the effect of RAS inhibitors in HSPN cases with moderate severity, including the proportion of cases with recurrence and their response to additional treatment. Methods Among 126 patients diagnosed with HSPN between 1996 and 2019, 71 patients with clinicopathologically diagnosed HSPN of moderate severity, defined as ISKDC grade II-IIIa and serum albumin [greater than or equal to] 2.5 g/dL, were investigated. Results Proteinuria became negative after RAS inhibitor treatment alone in all 71 cases. However, 16 (22.5%) had recurrence. Eleven recurrent cases achieved negative proteinuria again following additional treatment. At the last follow-up (median 46.5 months; IQR, 23.2-98.2), 5 patients had persistent mild proteinuria; no patients had estimated glomerular filtration rate < 90 mL/min/1.73 m.sup.2. The pathological findings in all recurrent cases were ISKDC grade IIIa. The 16 recurrent cases had significantly higher proportions of glomeruli with global/segmental sclerosis (25.0 vs. 0%, P < 0.001) and tubular atrophy/interstitial fibrosis (37.5 vs. 12.7%, P =0.0 24) than 55 cases without recurrence. Conclusions Japanese childhood HSPN cases with moderate severity had good outcomes without need for corticosteroids or immunosuppressants, when prescribed RAS inhibitor treatment. Even in recurrent cases, abnormal proteinuria was transient, and prognosis was excellent. Graphical abstract A higher resolution version of the Graphical abstract is available as Supplementary information, Author(s): Sadayuki Nagai [sup.1] , Tomoko Horinouchi [sup.1] , Takeshi Ninchoji [sup.1] , Atsushi Kondo [sup.1] , Yuya Aoto [sup.1] , Shinya Ishiko [sup.1] , Nana Sakakibara [sup.1] , China [...]

Published
2022
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29. Efficacy of combination therapy for childhood complicated focal IgA nephropathy

Author

Aoto, Yuya, Ninchoji, Takeshi, Kaito, Hiroshi, Shima, Yuko, Fujimura, Junya, Kamiyoshi, Naohiro, Ishimori, Shingo, Nakanishi, Koichi, Minamikawa, Shogo, Ishiko, Shinya, Sakakibara, Nana, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Nagai, Sadayuki, Kondo, Atsushi, Inaguma, Yosuke, Tanaka, Ryojiro, Yoshikawa, Norishige, Iijima, Kazumoto, and Nozu, Kandai

Published
2022
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30. 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

Author

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, and Tomioka, Kazumi

Subjects
Pervasive developmental disorders -- Risk factors, Tissues -- Protection and preservation, Genetic polymorphisms -- Research, Pediatric research, Neonatal jaundice -- Complications and side effects, Umbilical cord -- Health aspects -- Composition, Health
Abstract

Neonatal jaundice has been suggested as a perinatal risk factor for autism spectrum disorder (ASD). We examined UGT1A1 polymorphisms to assess the potential of neonatal jaundice as a risk factor for ASD in children by using DNA extracted from preserved umbilical cord. In total, 79 children with ASD were genotyped for UGT1A1*28 (c.-41-40dup), UGT1A1*6 (c.211 G > A), and UGT1A1*27 (c.686 C > A). The allele frequency of UGT1A1*6 (OR = 1.34, p = 0.26) and UGT1A1*28 (OR = 0.80, p = 0.54) and the prevalence of UGT1A1*28/*6 diplotypes did not differ significantly from those in the control population. No UGT1A1*27 allele was detected in the subjects. ASD symptom assessment scores were not associated with UGT1A1*28/*6/*27 genotypes or UGT1A1*28/*6 diplotypes. These results suggest that neonatal jaundice is not significantly associated with ASD., Author(s): Tomoko Horinouchi [sup.1] , Kaori Maeyama [sup.1] [sup.2] , Masashi Nagai [sup.1] [sup.3] , Masami Mizobuchi [sup.4] , Yasuko Takagi [sup.5] , Yuka Okada [sup.6] , Takeshi Kato [sup.7] [...]

Published
2022
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31. Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease

Author

Okada, Eri, Morisada, Naoya, Horinouchi, Tomoko, Fujii, Hideki, Tsuji, Takayuki, Miura, Masayoshi, Katori, Hideyuki, Kitagawa, Masashi, Morozumi, Kunio, Toriyama, Takanobu, Nakamura, Yuki, Nishikomori, Ryuta, Nagai, Sadayuki, Kondo, Atsushi, Aoto, Yuya, Ishiko, Shinya, Rossanti, Rini, Sakakibara, Nana, Nagano, China, Yamamura, Tomohiko, Ishimori, Shingo, Usui, Joichi, Yamagata, Kunihiro, Iijima, Kazumoto, Imasawa, Toshiyuki, and Nozu, Kandai

Published
2022
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32. BCS1L mutations produce Fanconi syndrome with developmental disability

Author

Kanako, Kojima-Ishii, Sakakibara, Nana, Murayama, Kei, Nagatani, Koji, Murata, Satoshi, Otake, Akira, Koga, Yasutoshi, Suzuki, Hisato, Uehara, Tomoko, Kosaki, Kenjiro, Yoshiura, Koh-ichiro, Mishima, Hiroyuki, Ichimiya, Yuko, Mushimoto, Yuichi, Horinouchi, Tomoko, Nagano, China, Yamamura, Tomohiko, Iijima, Kazumoto, and Nozu, Kandai

Published
2022
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33. Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes

Author

Ishiko, Shinya, Morisada, Naoya, Kondo, Atsushi, Nagai, Sadayuki, Aoto, Yuya, Okada, Eri, Rossanti, Rini, Sakakibara, Nana, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Ninchoji, Takeshi, Kaito, Hiroshi, Hamada, Riku, Shima, Yuko, Nakanishi, Koichi, Matsuo, Masafumi, Iijima, Kazumoto, and Nozu, Kandai

Published
2022
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35. Outcome of immunosuppression in children with IgA vasculitis–related nephritis.

Author

Rohner, Katharina, Marlais, Matko, Ahn, Yo Han, Ali, Alaa, Alsharief, Abrar, Novak, Anja Blejc, Brambilla, Marta, Cakici, Evrim Kargin, Candan, Cengiz, Canpolat, Nur, Chan, Eugene Yu-hin, Decramer, Stéphane, Didsbury, Madeleine, Durao, Filipa, Durkan, Anne M, Düzova, Ali, Forbes, Thomas, Gracchi, Valentina, Güngör, Tulin, and Horinouchi, Tomoko

Subjects
PROGNOSIS, SYMPTOMS, PEDIATRIC nephrology, GLOMERULAR filtration rate, CHRONIC kidney failure
Abstract

Background Immunoglobulin A vasculitis with nephritis (IgAVN) is the most common vasculitis in children. Due to a lack of evidence, treatment recommendations are based on expert opinion, resulting in variation. The aim of this study was to describe the clinical presentation, treatment and outcome of an extremely large cohort of children with biopsy-proven IgAVN in order to identify prognostic risk factors and signals of treatment efficacy. Methods Retrospective data were collected on 1148 children with biopsy-proven IgAVN between 2005 and 2019 from 41 international paediatric nephrology centres across 25 countries and analysed using multivariate analysis. The primary outcome was estimated glomerular filtration rate (eGFR) and persistent proteinuria at last follow-up. Results The median follow-up was 3.7 years (interquartile range 2–6.2). At last follow-up, 29% of patients had an eGFR <90 mL/min/1.73 m2, 36% had proteinuria and 3% had chronic kidney disease stage 4–5. Older age, lower eGFR at onset, hypertension and histological features of tubular atrophy and segmental sclerosis were predictors of poor outcome. There was no evidence to support any specific second-line immunosuppressive regimen being superior to others, even when further analysing subgroups of children with reduced kidney function, nephrotic syndrome or hypoalbuminemia at onset. Delayed start of immunosuppressive treatment was associated with a lower eGFR at last follow-up. Conclusion In this large retrospective cohort, key features associated with disease outcome are highlighted. Importantly, there was no evidence to support that any specific immunosuppressive treatments were superior to others. Further discovery science and well-conducted clinical trials are needed to define accurate treatment and improve outcomes of IgAVN. [ABSTRACT FROM AUTHOR]

Published
2024
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37. In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants less common than previously reported

Author

Ichikawa, Yuta, primary, Sakakibara, Nana, additional, Nagano, China, additional, Inoki, Yuta, additional, Tanaka, Yu, additional, Ueda, Chika, additional, Kitakado, Hideaki, additional, Kondo, Atsushi, additional, Ishimori, Shingo, additional, Horinouchi, Tomoko, additional, Iijima, Kazumoto, additional, and Nozu, Kandai, additional

Published
2024
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38. Corrigendum to “A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants.” Kidney Int. 2023;103:962–972

Author

Malakasioti, Georgia, primary, Iancu, Daniela, additional, Milovanova, Anastasiia, additional, Tsygin, Alexey, additional, Horinouchi, Tomoko, additional, Nagano, China, additional, Nozu, Kandai, additional, Kamei, Koichi, additional, Fujinaga, Shuichiro, additional, Iijima, Kazumoto, additional, Kang, Hee Gyung, additional, Sinha, Rajiv, additional, Basu, Biswanath, additional, Morello, William, additional, Montini, Giovanni, additional, Waters, Aoife, additional, Boyer, Olivia, additional, Yıldırım, Zeynep Yürük, additional, Yel, Sibel, additional, Dursun, İsmail, additional, McCarthy, Hugh J., additional, Vivarelli, Marina, additional, Prikhodina, Larisa, additional, Besouw, Martine T.P., additional, Chan, Eugene Yu-hin, additional, Huang, Wenyan, additional, Kemper, Markus J., additional, Loos, Sebastian, additional, Prestidge, Chanel, additional, Wong, William, additional, Zlatanova, Galia, additional, Ehren, Rasmus, additional, Weber, Lutz T., additional, Chehade, Hassib, additional, Hooman, Nakysa, additional, Tkaczyk, Marcin, additional, Stańczyk, Małgorzata, additional, Miligkos, Michael, additional, Tullus, Kjell, additional, Malakasioti, Georgia, additional, Martins, Vitor Hugo, additional, Camilla, Roberta, additional, Gianoglio, Bruno, additional, Maxted, Andrew, additional, Tsimaratos, Michel, additional, Alpay, Harika, additional, Said-Conti, Valerie, additional, Meglič, Anamarija, additional, Bresso, Paula, additional, Coccia, Paula, additional, Mitsioni, Andromachi, additional, and Yap, Yok-Chin, additional

Published
2024
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39. Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome

Author

Tsuji, Yurika, Yamamura, Tomohiko, Nagano, China, Horinouchi, Tomoko, Sakakibara, Nana, Ishiko, Shinya, Aoto, Yuya, Rossanti, Rini, Okada, Eri, Tanaka, Eriko, Tsugawa, Koji, Okamoto, Takayuki, Sawai, Toshihiro, Araki, Yoshinori, Shima, Yuko, Nakanishi, Koichi, Nagase, Hiroaki, Matsuo, Masafumi, Iijima, Kazumoto, and Nozu, Kandai

Published
2021
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40. An 'old and new' complication in a child with nephrotic syndrome: Answers

Author

Inaguma, Yosuke, Kaito, Hiroshi, Horinouchi, Tomoko, Ogawa, Yoshiharu, Yoshida, Makiko, Yoshikawa, Norishige, and Tanaka, Ryojiro

Subjects
Thromboembolism -- Case studies -- Diagnosis -- Causes of, Nephrotic syndrome -- Case studies -- Complications and side effects, Pediatric research, Health
Abstract

Author(s): Yosuke Inaguma [sup.1] , Hiroshi Kaito [sup.1] , Tomoko Horinouchi [sup.1] , Yoshiharu Ogawa [sup.2] , Makiko Yoshida [sup.3] , Norishige Yoshikawa [sup.4] , Ryojiro Tanaka [sup.1] Author Affiliations: [...]

Published
2021
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41. Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants

Author

Nagano, China, Takaoka, Yutaka, Kamei, Koichi, Hamada, Riku, Ichikawa, Daisuke, Tanaka, Kazuki, Aoto, Yuya, Ishiko, Shinya, Rossanti, Rini, Sakakibara, Nana, Okada, Eri, Horinouchi, Tomoko, Yamamura, Tomohiko, Tsuji, Yurika, Noguchi, Yuko, Ishimori, Shingo, Nagase, Hiroaki, Ninchoji, Takeshi, Iijima, Kazumoto, and Nozu, Kandai

Published
2021
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43. Utility of glomerular Gd-IgA1 staining for indistinguishable cases of IgA nephropathy or Alport syndrome

Author

Ishiko, Shinya, Tanaka, Akihito, Takeda, Asami, Hara, Masayuki, Hamano, Naoto, Koizumi, Masahiro, Ueno, Toshinori, Hayashi, Hiroki, Kondo, Atsushi, Nagai, Sadayuki, Aoto, Yuya, Sakakibara, Nana, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Ninchoji, Takeshi, Shima, Yuko, Nakanishi, Koichi, Yoshikawa, Norishige, Iijima, Kazumoto, and Nozu, Kandai

Published
2021
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44. Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome

Author

Yamamura, Tomohiko, Horinouchi, Tomoko, Nagano, China, Omori, Takashi, Sakakibara, Nana, Aoto, Yuya, Ishiko, Shinya, Nakanishi, Koichi, Shima, Yuko, Nagase, Hiroaki, Takeda, Hiroki, Rossanti, Rini, Ye, Ming Juan, Nozu, Yoshimi, Ishimori, Shingo, Ninchoji, Takeshi, Kaito, Hiroshi, Morisada, Naoya, Iijima, Kazumoto, and Nozu, Kandai

Published
2020
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45. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome

Author

Araki, Yoshinori, Nagaoka, Yoshinobu, Okamoto, Takayuki, Sato, Yasuyuki, Hayashi, Asako, Takahashi, Toshiyuki, Aoyagi, Hayato, Ueno, Michihiko, Nakanishi, Masanori, Toita, Nariaki, Uetake, Kimiaki, Kobayashi, Norio, Fujita, Shoji, Tsuruga, Kazushi, Kumagai, Naonori, Kudo, Hiroki, Tanaka, Eriko, Omori, Tae, Okada, Mari, Hatai, Yoshiho, Udagawa, Tomohiro, Motoyoshi, Yaeko, Ishikura, Kenji, Kamei, Koichi, Ogura, Masao, Sato, Mai, Kano, Yuji, Hattori, Motoshi, Miura, Kenichiro, Harita, Yutaka, Kanda, Shoichiro, Sawanobori, Emi, Kobayashi, Anna, Kojika, Manabu, Ohwada, Yoko, Yan, Kunimasa, Hataya, Hiroshi, Hamada, Riku, Terano, Chikako, Harada, Ryoko, Hamasaki, Yuko, Hashimoto, Junya, Ito, Shuichi, Machida, Hiroyuki, Inaba, Aya, Matsuyama, Takeshi, Goto, Miwa, Shimizu, Masaki, Ohta, Kazuhide, Ikezumi, Yohei, Yamada, Takeshi, Suzuki, Toshiaki, Tamamura, Soichi, Mori, Yukiko, Hidaka, Yoshihiko, Matsuoka, Daisuke, Kinoshita, Tatsuya, Noda, Shunsuke, Kitahara, Masashi, Fujita, Naoya, Hibino, Satoshi, Iijima, Kazumoto, Nozu, Kandai, Kaito, Hiroshi, Minamikawa, Shogo, Yamamura, Tomohiko, Nagano, China, Horinouchi, Tomoko, Nakanishi, Keita, Fujimura, Junya, Sakakibara, Nana, Aoto, Yuya, Ishiko, Shinya, Tanaka, Ryojiro, Kanda, Kyoko, Inaguma, Yosuke, Hashimura, Yuya, Ishimori, Shingo, Kamiyoshi, Naohiro, Shibano, Takayuki, Takeshima, Yasuhiro, Fujimaru, Rika, Ueda, Hiroaki, Ashida, Akira, Matsumura, Hideki, Kubota, Takuo, Kitaoka, Taichi, Okuda, Yusuke, Sawai, Toshihiro, Sakai, Tomoyuki, Shima, Yuko, Hama, Taketsugu, Fujieda, Mikiya, Ishihara, Masayuki, Itoh, Shigeru, Iwaki, Takuma, Shimizu, Maki, Nagatani, Koji, Kagami, Shoji, Urushihara, Maki, Kaku, Yoshitsugu, Nishimura, Manao, Yoshino, Miwa, Hatae, Ken, Hinokiyama, Maiko, Kuroki, Rie, Ohtsuka, Yasufumi, Oka, Masafumi, Nishimura, Shinji, Sato, Tadashi, Tanaka, Seiji, Zaitsu, Ayuko, Nakazato, Hitoshi, Tamura, Hiroshi, Nakanishi, Koichi, Cho, Min Hyun, Ha, Tae-Sun, Cheong, Hae Il, Kang, Hee Gyung, Ha, Il-Soo, Kim, Ji Hyun, Park, Peong Gang, Cho, Myung Hyun, Han, Kyoung Hee, Yang, Eun Mi, Quiroga, Alejandro, Moudgil, Asha, Chavers, Blanche, Kwon, Charles, Bowers, Corinna, Gipson, Deb, Chand, Deepa, Weaver, Donald Jack, Abraham, Elizabeth, Janjua, Halima, Lin, Jen-Jar, Greenbaum, Larry, Kallash, Mahmoud, Rheault, Michelle, De Jeus Gonzalez, Nilka, Brophy, Patrick, Gbadegesin, Rasheed, Nagaraj, Shashi, Massengill, Susan, Srivastava, Tarak, Hunley, Tray, Cai, Yi, Omoloja, Abiodun, Silva, Cynthia, Adeyemo, Adebowale, Thalgahagoda, Shenal, Kari, Jameela A., El Desoky, Sherif, Abdelhadi, Mohammed, Akil, Rachida, Azib, Sonia, Basmaci, Romain, Benoist, Gregoire, Bensaid, Philippe, Blanc, Philippe, Boyer, Olivia, Bucher, Julie, Chace, Anne, Chalvon, Arnaud, Cheminee, Marion, Chendjou, Sandrine, Daoud, Patrick, Deschênes, Georges, Dossier, Claire, Elias, Ossam, Gagliadone, Chantal, Gajdos, Vincent, Galerne, Aurélien, Aigrain, Evelyne Jacqz, Sanchez, Lydie Joly, Khaled, Mohamed, Khelfaoui, Fatima, Laoudi, Yacine, Larakeb, Anis, Limani, Tarek, Mahdi, Fouad, Mandelcwaijg, Alexis, Muller, Stephanie, Nacer, Kacem, Nathanson, Sylvie, Pellegrino, Béatrice, Pharaon, Isabelle, Roudault, Véronica, Rouget, Sébastien, Saf, Marc, Simon, Tabassom, Tahiri, Cedric, Ulinski, Tim, Zenkhri, Férielle, Jia, Xiaoyuan, McNulty, Michelle T., Song, Kyuyong, Hitomi, Yuki, Lee, Dongwon, Aiba, Yoshihiro, Khor, Seik-Soon, Ueno, Kazuko, Kawai, Yosuke, Nagasaki, Masao, Noiri, Eisei, Baek, Jiwon, Abeyagunawardena, Asiri, Lane, Brandon, Chryst-Stangl, Megan, Esezobor, Christopher, Solarin, Adaobi, Vivarelli, Marina, Debiec, Hanna, Matsuo, Masafumi, Ronco, Pierre, Sampson, Matthew G., and Tokunaga, Katsushi

Published
2020
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47. Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2

Author

Sakakibara, Nana, Nagano, China, Ishiko, Shinya, Horinouchi, Tomoko, Yamamura, Tomohiko, Minamikawa, Shogo, and Shima, Yuko

Subjects
Children -- Diseases, Dent's disease -- Genetic aspects -- Comparative analysis -- Development and progression, Pediatric research, Health
Abstract

Background Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic variants in either of two genes: CLCN5 (Dent disease 1) and OCRL (Dent disease 2). It is generally not accompanied by extrarenal manifestations and it is difficult to distinguish Dent disease 1 from Dent disease 2 without gene testing. We retrospectively compared the characteristics of these two diseases using one of the largest cohorts to date. Methods We performed gene testing for clinically suspected Dent disease, leading to the genetic diagnosis of 85 males: 72 with Dent disease 1 and 13 with Dent disease 2. A retrospective review of the clinical findings and laboratory data obtained from questionnaires submitted in association with the gene testing was conducted for these cases. Results The following variables had significantly higher levels in Dent disease 2 than in Dent disease 1: height standard deviation score (height SDS), serum creatinine-based estimated GFR (Cr-eGFR) (median: 84 vs. 127 mL/min/1.73 m.sup.2, p < 0.01), serum aspartate aminotransferase (AST), serum alanine aminotransferase (ALT), serum lactate dehydrogenase (LDH), serum creatine phosphokinase (CK), serum potassium, serum inorganic phosphorus, serum uric acid, urine protein/creatinine ratio (median: 3.5 vs. 1.6 mg/mg, p < 0.01), and urine calcium/creatinine ratio. There were no significant differences in serum sodium, serum calcium, alkaline phosphatase (ALP), urine [beta]2-microglobulin, incidence of nephrocalcinosis, and prevalence of intellectual disability or autism spectrum disorder. Conclusions The clinical and laboratory features of Dent disease 1 and Dent disease 2 were shown in this study. Notably, patients with Dent disease 2 showed kidney dysfunction at a younger age, which should provide a clue for the differential diagnosis of these diseases., Author(s): Nana Sakakibara [sup.1] , China Nagano [sup.1] , Shinya Ishiko [sup.1] , Tomoko Horinouchi [sup.1] , Tomohiko Yamamura [sup.1] , Shogo Minamikawa [sup.1] , Yuko Shima [sup.2] , Koichi [...]

Published
2020
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48. Rituximab in combination with cyclosporine and steroid pulse therapy for childhood-onset multidrug-resistant nephrotic syndrome: a multicenter single-arm clinical trial (JSKDC11 trial)

Author

Nozu, Kandai, primary, Sako, Mayumi, additional, Tanaka, Seiji, additional, Kano, Yuji, additional, Ohwada, Yoko, additional, Morohashi, Tamaki, additional, Hamada, Riku, additional, Ohtsuka, Yasufumi, additional, Oka, Masafumi, additional, Kamei, Koichi, additional, Inaba, Aya, additional, Ito, Shuichi, additional, Sakai, Tomoyuki, additional, Kaito, Hiroshi, additional, Shima, Yuko, additional, Ishikura, Kenji, additional, Nakamura, Hidefumi, additional, Nakanishi, Koichi, additional, Horinouchi, Tomoko, additional, Konishi, Akihide, additional, Omori, Takashi, additional, and Iijima, Kazumoto, additional

Published
2023
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