Article
Genetics & Heredity
Yu Toyoda, Sung Kweon Cho, Velibor Tasic, Katerina Pavelcova, Jana Bohata, Hiroshi Suzuki, Victor A. David, Jaeho Yoon, Anna Pallaiova, Jana Saligova, Darryl Nousome, Raul Cachau, Cheryl A. Winkler, Tappei Takada, Blanka Stiburkova
Summary: Renal hypouricemia (RHUC) is a pathological condition characterized by extremely low serum urate and overexcretion of urate in the kidney. In this study, a familial case of RHUC type 2 was described, and an intronic GLUT9 variant, c.1419+1G > A, was identified as the causal mutation that resulted in a functionally-null variant. This finding enhances our understanding of RHUC and the importance of GLUT9 in its pathophysiology.
FRONTIERS IN GENETICS
(2023)
Article
Medicine, General & Internal
Yi Zhang, Bing Liang, Cuiping Zhao, Yi Zhou, Chuanzhu Yan
Summary: This case report describes a pregnant woman who developed posterior reversible encephalopathy syndrome (PRES) without pre-eclampsia, eclampsia, or any other known causes. The MRI showed diffuse high-signal intensity lesions in the white matter and medulla oblongata. After termination of pregnancy, the patient's symptoms improved and complete recovery was observed at the 6-month follow-up.
Article
Emergency Medicine
Saki Hieda, Naoto Ishimaru, Jun Ohnishi, Shimpei Mizuki, Yohei Kanzawa, Kei Kawano, Takahiro Nakajima, Saori Kinami
Summary: Hyperosmolar hyperglycemic syndrome is a life-threatening diabetic emergency that can lead to altered mental status. This case report highlights a rare concurrent occurrence of posterior reversible encephalopathy syndrome with hyperosmolar hyperglycemic syndrome, emphasizing the importance of prompt diagnosis and management.
AMERICAN JOURNAL OF EMERGENCY MEDICINE
(2021)
Article
Immunology
Yang Li, Junmin Song, Ahm M. Huq, Suraj Timilsina, M. Eric Gershwin
Summary: Posterior reversible encephalopathy syndrome (PRES) is a clinical syndrome characterized by acute or subacute neurological symptoms and impaired endothelial barrier function, resulting in reversible bilateral subcortical vasogenic edema. Various predisposing or precipitating conditions, such as hypertension, autoimmune diseases, and certain therapeutic agents, have been identified. The immune activation hypothesis, especially the presence of autoimmunity, plays a significant role in PRES.
AUTOIMMUNITY REVIEWS
(2023)
Article
Immunology
Christopher Nelke, Andreas Schulte-Mecklenbeck, Marc Pawlitzki, Leoni Rolfes, Saskia Rauber, Catharina C. Gross, Jens Minnerup, Sven G. Meuth, Heinz Wiendl, Tobias Ruck
Summary: The study found that total protein levels in the cerebrospinal fluid (CSF) of posterior reversible encephalopathy syndrome (PRES) patients are elevated, indicating an innate immune response rather than adaptive immunity in the pathophysiology of PRES. Analysis of monocyte subsets showed an increase in CD14(++)/CD16(+) monocytes in the peripheral blood (PB) and CSF of PRES patients, serving as a marker for disease severity.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Clinical Neurology
Alexander Balcerac, Kevin Bihan, Dimitri Psimaras, Benedicte Lebrun-Vignes, Joe-Elie Salem, Nicolas Weiss
Summary: In this study, a disproportionality analysis was performed using the VigiBase database to identify drugs associated with PRES. A total of 73 drugs were found to be statistically associated with PRES. These results can assist clinicians in identifying potential drugs associated with PRES and making decisions regarding their discontinuation.
JOURNAL OF NEUROLOGY
(2023)
Review
Immunology
Martin Valdez-Lopez, Eduardo Aguirre-Aguilar, Sergio Ivan Valdes-Ferrer, Francisco M. Martinez-Carrillo, Antonio Arauz, Ana Barrera-Vargas, Javier Merayo-Chalico
Summary: Posterior Reversible Encephalopathy Syndrome (PRES) is an acute neurological syndrome characterized by seizures, altered mental status, headache, and visual disturbances. It is often associated with Systemic Lupus Erythematosus (SLE), with SLE causing alterations in pathways implicated in the development of PRES. This suggests that PRES in the setting of SLE may be considered a distinct neuropsychiatric syndrome.
AUTOIMMUNITY REVIEWS
(2021)
Article
Cardiac & Cardiovascular Systems
Ava L. Liberman, Cenai Zhang, Neal S. Parikh, Setareh Salehi Omran, Babak B. Navi, Richard I. Lappin, Alexander E. Merkler, Jed H. Kaiser, Hooman Kamel
Summary: This study aimed to estimate the misdiagnosis rate of PRES/RCVS in the emergency department and its associated factors. The study found that approximately one in twenty patients with PRES/RCVS in a large, multistate cohort may experience misdiagnosis in the emergency department. Misdiagnosed patients were typically younger, more often female, and had comorbidities such as headache and substance use disorder.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Emergency Medicine
Ross Miller, Samuel Wagner, Jordan Hammond, Nathan Roberts, Ken Marshall, Bradley Barth
Summary: This article discusses the clinical presentation, diagnosis challenges, and risk factors of Posterior Reversible Encephalopathy Syndrome (PRES), and provides a brief summary of a retrospective observational study on PRES.
AMERICAN JOURNAL OF EMERGENCY MEDICINE
(2021)
Review
Clinical Neurology
Alexandra N. Gewirtz, Virginia Gao, Sarah C. Parauda, Matthew S. Robbins
Summary: This review provides updated information on the clinical presentation, diagnosis, and treatment of posterior reversible encephalopathy syndrome (PRES), and highlights COVID-19 as a potential risk factor for PRES. The syndrome is theorized to be related to disordered autoregulation and endothelial dysfunction, with treatment focusing on addressing underlying causes and removing offending agents.
CURRENT PAIN AND HEADACHE REPORTS
(2021)
Article
Critical Care Medicine
Gunseli Orhun, Serra Sencer, Erdem Tuzun, Nerses Bebek, Perihan Ergin Ozcan, Mehmet Barburoglu, Mehmet Guven Gunver, Figen Esen
Summary: Sepsis-associated encephalopathy (SAE) is often accompanied by neuroimaging findings indicating ischemia, hemorrhage, and edema. This study found the prevalence of posterior reversible encephalopathy syndrome (PRES) in SAE patients and its clinical and neuroimaging features, suggesting that generalized seizures may serve as warning signs for the presence of PRES.
NEUROCRITICAL CARE
(2022)
Article
Acoustics
Maria Joao Pinto, Miguel Schon, Joao Andre Sousa, Joao Filipe, Andreia Costa, Elsa Azevedo, Joao Sargento-Freitas, Fernando Silva, Ana Catarina Fonseca, Pedro Castro
Summary: This study aimed to investigate the incidence of ultrasonographic vasospasm (uVSP) in patients with PRES/RCVS and its relationship with ischemic lesions and clinical outcome. The study found that uVSP-positive patients had a higher detection rate of DWI-positive lesions and DWI-positive lesions were associated with worse functional prognosis. Ultrasonographic vasospasm detection can help evaluate the risk of cerebral ischemia in patients, which is a strong predictor of functional outcome.
ULTRASCHALL IN DER MEDIZIN
(2023)
Review
Clinical Neurology
XiaoQing Cheng, JianRui Li, Ying Lan, Jia Liu, Sui Chen, GuangMing Lu
Summary: There is overlap between the pathogenesis of posterior reversible encephalopathy syndrome and cerebrovascular disease, with neuroimaging playing a crucial role in timely identification and differentiation of this entity from other diseases.
FRONTIERS IN NEUROLOGY
(2021)
Article
Plant Sciences
Yongmei Li, Zean Zhao, Jian Luo, Yanqing Jiang, Lu Li, Yanyu Chen, Leqi Zhang, Qinghua Huang, Ying Cao, Pingzheng Zhou, Ting Wu, Jianxin Pang
Summary: Apigenin effectively attenuates hyperuricemic nephropathy by co-inhibiting uric acid reabsorption and the Wnt/beta-catenin pathway.
Article
Neurosciences
Yu-Ju Tseng, Chun-Nan Chen, Ruey-Long Hong, Woon-Man Kung, Abel Po-Hao Huang
Summary: Posterior reversible encephalopathy syndrome (PRES) is a rare but severe neurological syndrome that may be caused by certain medications. In this case, a 40-year-old man with olfactory neuroblastoma developed PRES while being treated with lenvatinib. The symptoms included loss of consciousness and seizures, but fortunately, the symptoms resolved after cessation of lenvatinib.
Article
Urology & Nephrology
Shinya Ishiko, Naoya Morisada, Atsushi Kondo, Sadayuki Nagai, Yuya Aoto, Eri Okada, Rini Rossanti, Nana Sakakibara, China Nagano, Tomoko Horinouchi, Tomohiko Yamamura, Takeshi Ninchoji, Hiroshi Kaito, Riku Hamada, Yuko Shima, Koichi Nakanishi, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu
Summary: In the Japanese population, genetically diagnosed ARPKD patients exhibit a wide range of clinical features, including prenatal anomalies, chronic kidney disease, Caroli disease, and hepatic fibrosis. The minigene assay results highlight the importance of functional analysis and challenge the belief that at least one non-truncating mutation is necessary for perinatal survival.
CLINICAL AND EXPERIMENTAL NEPHROLOGY
(2022)
Article
Urology & Nephrology
Yuya Aoto, Takeshi Ninchoji, Hiroshi Kaito, Yuko Shima, Junya Fujimura, Naohiro Kamiyoshi, Shingo Ishimori, Koichi Nakanishi, Shogo Minamikawa, Shinya Ishiko, Nana Sakakibara, China Nagano, Tomoko Horinouchi, Tomohiko Yamamura, Sadayuki Nagai, Atsushi Kondo, Yosuke Inaguma, Ryojiro Tanaka, Norishige Yoshikawa, Kazumoto Iijima, Kandai Nozu
Summary: Combination therapy was significantly effective in patients with complicated focal IgAN. The long-term prognosis was good, and the duration of combination therapy for complicated focal IgAN can be decreased to reduce adverse events.
CLINICAL AND EXPERIMENTAL NEPHROLOGY
(2022)
Article
Urology & Nephrology
Miki Murakoshi, Koichi Kamei, Masao Ogura, Mai Sato, Taishi Nada, Ryutaro Suzuki, Chikako Kamae, Kentaro Nishi, Toru Kanamori, China Nagano, Kandai Nozu, Koichi Nakanishi, Kazumoto Iijima
Summary: Unilateral nephrectomy during early infancy may be an effective treatment for patients with CNF, allowing for reduction in albumin infusion, prevention of complications, and shorter hospital stays.
CLINICAL AND EXPERIMENTAL NEPHROLOGY
(2022)
Article
Genetics & Heredity
Nana Sakakibara, Kandai Nozu, Tomohiko Yamamura, Tomoko Horinouchi, China Nagano, Ming Juan Ye, Shinya Ishiko, Yuya Aoto, Rini Rossanti, Riku Hamada, Nobuhiko Okamoto, Yuko Shima, Koichi Nakanishi, Masafumi Matsuo, Kazumoto Iijima, Naoya Morisada
Summary: Nephronophthisis is a common kidney disease related to abnormalities in primary cilia. This study identified multiple causative genes for NPHP-RCs using genetic analysis, and found that most patients showed extrarenal manifestations. Comprehensive genetic analysis using NGS is useful for diagnosing patients with NPHP-RCs.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Urology & Nephrology
Kazumoto Iijima, Mayumi Sako, Mari Oba, Seiji Tanaka, Riku Hamada, Tomoyuki Sakai, Yoko Ohwada, Takeshi Ninchoji, Tomohiko Yamamura, Hiroyuki Machida, Yuko Shima, Ryojiro Tanaka, Hiroshi Kaito, Yoshinori Araki, Tamaki Morohashi, Naonori Kumagai, Yoshimitsu Gotoh, Yohei Ikezumi, Takuo Kubota, Koichi Kamei, Naoya Fujita, Yasufumi Ohtsuka, Takayuki Okamoto, Takeshi Yamada, Eriko Tanaka, Masaki Shimizu, Tomoko Horinouchi, Akihide Konishi, Takashi Omori, Koichi Nakanishi, Kenji Ishikura, Shuichi Ito, Hidefumi Nakamura, Kandai Nozu
Summary: Administration of MMF after rituximab may be effective in preventing treatment failure and is well tolerated.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Letter
Oncology
Noboru Hokama, Nobuyuki Hyakuna, Satoru Hamada, Hideo Shiohira, Koichi Nakanishi, Katsunori Nakamura
PEDIATRIC BLOOD & CANCER
(2022)
Letter
Oncology
Hitomi Abe, Satoru Hamada, Hideki Sakiyama, Tokiko Oshiro, Miho Kato, Takeshi Yagi, Takehiro Matsuda, Takeshi Higa, Nobuyuki Hyakuna, Koichi Nakanishi
PEDIATRIC BLOOD & CANCER
(2022)
Article
Pediatrics
Wataru Shimabukuro, Satoru Hamada, Tokiko Oshiro, Shougo Nakada, Nobuyuki Hyakuna, Koichi Nakanishi
Summary: This study reports two cases of elevated serum CysC levels in JMML patients. Despite normal kidney function, it may be associated with tumor burden. It is recommended to determine creatinine or inulin clearance to accurately estimate kidney function when administering anticancer drugs.
PEDIATRIC NEPHROLOGY
(2022)
Article
Pediatrics
Sadayuki Nagai, Tomoko Horinouchi, Takeshi Ninchoji, Atsushi Kondo, Yuya Aoto, Shinya Ishiko, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Hiroshi Kaito, Ryojiro Tanaka, Yuko Shima, Junya Fujimura, Naohiro Kamiyoshi, Shingo Ishimori, Koichi Nakanishi, Norishige Yoshikawa, Kazumoto Iijima, Kandai Nozu
Summary: Japanese childhood HSPN cases with moderate severity have good outcomes without the need for corticosteroids or immunosuppressants when prescribed RAS inhibitor treatment. Even in recurrent cases, abnormal proteinuria is transient, and prognosis is excellent.
PEDIATRIC NEPHROLOGY
(2022)
Article
Urology & Nephrology
Yuya Aoto, Tomoko Horinouchi, Tomohiko Yamamura, Atsushi Kondo, Sadayuki Nagai, Shinya Ishiko, Eri Okada, Rini Rossanti, Nana Sakakibara, China Nagano, Hiroyuki Awano, Hiroaki Nagase, Yuko Shima, Koichi Nakanishi, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu
Summary: This study revealed that most single-base substitutions at the last nucleotide position of COL4A5 exons result in splicing variants rather than missense variants, leading to more severe phenotypes.
KIDNEY INTERNATIONAL REPORTS
(2022)
Review
Medicine, General & Internal
Akinari Sekine, Sumi Hidaka, Tomofumi Moriyama, Yasuto Shikida, Keiji Shimazu, Eiji Ishikawa, Kiyotaka Uchiyama, Hiroshi Kataoka, Haruna Kawano, Mahiro Kurashige, Mai Sato, Tatsuya Suwabe, Shinya Nakatani, Tadashi Otsuka, Hirayasu Kai, Kan Katayama, Shiho Makabe, Shun Manabe, Wataru Shimabukuro, Koichi Nakanishi, Saori Nishio, Fumihiko Hattanda, Kazushige Hanaoka, Kenichiro Miura, Hiroki Hayashi, Junichi Hoshino, Ken Tsuchiya, Toshio Mochizuki, Shigeo Horie, Ichiei Narita, Satoru Muto
Summary: Differential diagnosis between ADPKD and other cystic kidney diseases is important, with some diseases easily excluded using clinical information while others require genetic testing or additional information for diagnosis.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Yasutsugu Chinen, Sadao Nakamura, Kumiko Yanagi, Takuya Kaneshi, Hideki Goya, Tomohide Yoshida, Kazuhito Satou, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi
Summary: We report a male patient with orofaciodigital (OFD) syndrome type XVI, who had a homozygous variant of TMEM107 gene (p.Phe106del), and tibial dysplasia, which is a crucial feature of OFD syndrome type IV. His family history included two fetuses with anencephaly, with or without cleft lip/palate and polydactyly, but no genetic information was available. Careful attention should be paid to the interpretation of this rare phenotype.
HUMAN GENOME VARIATION
(2022)
Meeting Abstract
Pediatrics
Rini Rossanti, Tomoko Horinouchi, Tomohiko Yamamura, China Nagano, Nana Sakakibara, Shinya Ishiko, Yuya Aoto, Atshusi Kondo, Sadayuki Nagai, Eri Okada, Shingo Ishimori, Hiroaki Nagase, Satoshi Matsui, Keiichi Tamagaki, Yoshifumi Ubara, Masahiko Nagahama, Yuko Shima, Koichi Nakanishi, Masafumi Matsuo, Takeshi Ninchoji, Nozu Kandai, Kazumoto Iijima
PEDIATRIC NEPHROLOGY
(2021)
Meeting Abstract
Pediatrics
Yuko Shima, Koichi Nakanishi, Hironobu Mukaiyama, Yu Tanaka, Takuzo Wada, Kandai Nozu, Ryojiro Tanaka, Kazumoto Iijima, Norishige Yoshikawa
PEDIATRIC NEPHROLOGY
(2021)
Meeting Abstract
Pediatrics
Wataru Shimabukuro, Miwa Yoshino, Mina Takeichi, Junya Omura, Chie Yokota, Junko Yamamoto, Yasuhiko Takahashi, Kandai Nozu, Naoya Morisada, Kazumoto Iijima, Koichi Nakanishi
PEDIATRIC NEPHROLOGY
(2021)