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https://www.readbyqxmd.com/read/29773874/mutations-in-six-nephrosis-genes-delineate-a-pathogenic-pathway-amenable-to-treatment
#1
Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A Lawson, Weizhen Tan, Tobias Hermle, Jillian K Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A Braun, Heon Yung Gee, David Schapiro, Amar J Majmundar, Carolin E Sadowski, Werner L Pabst, Ankana Daga, Amelie T van der Ven, Johanna M Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K Tripathi, Jenny Wong, Kirk Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A Kari, Sherif El Desoky, Sawsan Jalalah, Radovan Bogdanovic, Nataša Stajić, Hildegard Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, Juergen Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A Soliman, Shrikant M Mane, Lewis Kaufman, Douglas R Lowy, Mohamad A Jairajpuri, Richard P Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensitive NS (pTSNS). These proteins interact and we delineate their roles in Rho-like small GTPase (RLSG) activity, and demonstrate deficiency for mutants of pTSNS patients. We find that CDK20 regulates DLC1. Knockdown of MAGI2, DLC1, or CDK20 in cultured podocytes reduces migration rate...
May 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29765561/a-pilot-study-of-peptide-vaccines-for-vegf-receptor-1-and-2-in-patients-with-recurrent-progressive-high-grade-glioma
#2
Shunsuke Shibao, Ryo Ueda, Katsuya Saito, Ryogo Kikuchi, Hideaki Nagashima, Atsuhiro Kojima, Hiroshi Kagami, Eriel Sandika Pareira, Hikaru Sasaki, Shinobu Noji, Yutaka Kawakami, Kazunari Yoshida, Masahiro Toda
Object: Early-phase clinical studies of glioma vaccines have shown feasibility and encouraging preliminary clinical activity. A vaccine that targets tumor angiogenesis factors in glioma microenvironment has not been reported. Therefore, we performed a pilot study to evaluate the safety and immunogenicity of a novel vaccination targeting tumor angiogenesis with synthetic peptides for vascular endothelial growth factor (VEGF) receptor epitopes in patients with recurrent/progressive high grade gliomas...
April 20, 2018: Oncotarget
https://www.readbyqxmd.com/read/29761117/genomic-analysis-identifies-masqueraders-of-full-term-cerebral-palsy
#3
Yusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, Tetsuya Niihori, Yurika Numata-Uematsu, Takehiko Inui, Saeko Yamamura-Suzuki, Takuya Miyabayashi, Mai Anzai, Sato Suzuki-Muromoto, Yukimune Okubo, Wakaba Endo, Noriko Togashi, Yasuko Kobayashi, Akira Onuma, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Yoko Aoki, Shigeo Kure
Objective: Cerebral palsy is a common, heterogeneous neurodevelopmental disorder that causes movement and postural disabilities. Recent studies have suggested genetic diseases can be misdiagnosed as cerebral palsy. We hypothesized that two simple criteria, that is, full-term births and nonspecific brain MRI findings, are keys to extracting masqueraders among cerebral palsy cases due to the following: (1) preterm infants are susceptible to multiple environmental factors and therefore demonstrate an increased risk of cerebral palsy and (2) brain MRI assessment is essential for excluding environmental causes and other particular disorders...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29760355/interventions-integrating-non-communicable-disease-prevention-and-reproductive-maternal-newborn-and-child-health-a-systematic-review
#4
Kimiyo Kikuchi, Rakesh Ayer, Sumiyo Okawa, Mariko Nishikitani, Fumihiko Yokota, Masamine Jimba, Naoki Nakashima
Reproductive, maternal, newborn, and child health (RMNCH) care services could be critical entry points for preventing non-communicable diseases in women and children. In high-income countries, non-communicable diseases screening has been integrated into both the medical and public health systems. To integrate these services in low- and middle-income countries, it is necessary to closely examine its effectiveness and feasibility. In this systematic review, we evaluated the effectiveness of integrating gestational and non-gestational non-communicable diseases interventions and RMNCH care among women and children in low- and middle-income countries...
2018: Bioscience Trends
https://www.readbyqxmd.com/read/29758106/sputum-to-serum-hydrogen-sulfide-ratio-as-a-novel-biomarker-of-predicting-future-risks-of-asthma-exacerbation
#5
Yasuhito Suzuki, Junpei Saito, Masami Kikuchi, Manabu Uematsu, Atsuro Fukuhara, Suguru Sato, Mitsuru Munakata
BACKGROUND: Increased level of hydrogen sulfide (H2 S) in sputum is reported to be a new biomarker of neutrophilic airway inflammation in chronic airway disorders. However, the relationship between H2 S and disease activity remains unclear. OBJECTIVE: We investigated whether H2 S levels could vary during different conditions in asthma. METHOD: H2 S levels in sputum and serum were measured using a sulfide-sensitive electrode in 47 stable asthmatic subjects (S-BA), 21 uncontrolled asthmatic subjects (UC-BA), 26 asthmatic subjects with acute exacerbation (AE-BA), and 15 healthy subjects...
May 14, 2018: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29755898/an-unusual-presentation-of-kikuchi-fujimoto-disease-with-recurrent-subdural-effusion
#6
Sara Shahid, Syed H Alam, Indira Hadley
A 24-year-old man complained of a right temporal headache for four weeks. The patient denied any trauma or previous anticoagulation use. He also reported tender right facial swelling. His physical exam was unrevealing except for right cranial nerve (CN) VI palsy, right parotid enlargement, and cervical adenopathy. Laboratory findings were significant for mild leukopenia at 3300 cells/uL. The computed tomography (CT) scan obtained showed a chronic left subdural effusion with a 4 mm midline shift and confirmed right parotid enlargement and cervical lymphadenopathy...
March 10, 2018: Curēus
https://www.readbyqxmd.com/read/29718797/cep250-mutations-associated-with-mild-cone-rod-dystrophy-and-sensorineural-hearing-loss-in-a-japanese-family
#7
Daiki Kubota, Kiyoko Gocho, Sachiko Kikuchi, Keiichiro Akeo, Masahiro Miura, Kunihiko Yamaki, Hiroshi Takahashi, Shuhei Kameya
BACKGROUND: CEP250 encodes the C-Nap1 protein which belongs to the CEP family of proteins. C-Nap1 has been reported to be expressed in the photoreceptor cilia and is known to interact with other ciliary proteins. Mutations of CEP250 cause atypical Usher syndrome which is characterized by early-onset sensorineural hearing loss (SNHL) and a relatively mild retinitis pigmentosa. This study tested the hypothesis that the mild cone-rod dystrophy (CRD) and SNHL in a non-consanguineous Japanese family was caused by CEP250 mutations...
May 2, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29717423/clinical-role-of-programmed-cell-death-1-expression-in-patients-with-non-muscle-invasive-bladder-cancer-recurring-after-initial-bacillus-calmette-gu%C3%A3-rin-therapy
#8
Keishiro Fukumoto, Eiji Kikuchi, Shuji Mikami, Nozomi Hayakawa, Kazuhiro Matsumoto, Naoya Niwa, Mototsugu Oya
BACKGROUND: The programmed cell death-1 (PD-1) pathway has been suggested to play an important role in tumor immune escape. We evaluated changes in PD-1 expression before and after Bacillus Calmette-Guérin (BCG) therapy and its prognostic significance in non-muscle-invasive bladder cancer (NMIBC) patients. METHODS: We examined 78 paired tissue samples of NMIBC in tumors just before BCG therapy and BCG-relapsing tumors, defined as recurrence after achieving disease-free status by initial BCG instillations for 6 months...
May 1, 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29706985/abc-dementia-scale-a-quick-assessment-tool-for-determining-alzheimer-s-disease-severity
#9
Takahiro Mori, Takashi Kikuchi, Yumi Umeda-Kameyama, Kenji Wada-Isoe, Shinsuke Kojima, Tatsuo Kagimura, Chiaki Kudoh, Hirotake Uchikado, Akinori Ueki, Masato Yamashita, Toshiyuki Watabe, Chika Nishimura, Norifumi Tsuno, Takashi Ueda, Masahiro Akishita, Yu Nakamura
Background: In this study, we examined the construct validity, concurrent validity concerning other standard scales, intrarater reliability, and changes in scores at 12 weeks of the previously developed ABC Dementia Scale (ABC-DS), a novel assessment tool for Alzheimer's disease (AD). Methods: Data were obtained from 312 patients diagnosed with either AD or mild cognitive impairment. The scores on the ABC-DS and standard scales were compared. Results: The 13 items of the ABC-DS are grouped into three domains, and the domain-level scores were highly correlated with the corresponding conventional scales...
January 2018: Dementia and Geriatric Cognitive Disorders Extra
https://www.readbyqxmd.com/read/29705743/-in-vivo-visualisation-of-different-modes-of-action-of-biological-dmards-inhibiting-osteoclastic-bone-resorption
#10
Yoshinobu Matsuura, Junichi Kikuta, Yuika Kishi, Tetsuo Hasegawa, Daisuke Okuzaki, Toru Hirano, Masafumi Minoshima, Kazuya Kikuchi, Atsushi Kumanogoh, Masaru Ishii
OBJECTIVES: Osteoclasts play critical roles in inflammatory bone destruction. Precursor cell migration, cell differentiation, and functional cell activation are all in play. Biological disease-modifying antirheumatic drugs (DMARDs) have been shown to significantly inhibit both bone erosion as well as synovitis, although how such agents reduce osteoclastic bone destruction in vivo has not been fully explained. Here, we used an intravital time-lapse imaging technique to directly visualise mature osteoclasts and their precursors, and explored how different biological DMARDs acted in vivo ...
April 28, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29700084/reactive-oxygen-species-in-metabolic-and-inflammatory-signaling
#11
REVIEW
Steven J Forrester, Daniel S Kikuchi, Marina S Hernandes, Qian Xu, Kathy K Griendling
Reactive oxygen species (ROS) are well known for their role in mediating both physiological and pathophysiological signal transduction. Enzymes and subcellular compartments that typically produce ROS are associated with metabolic regulation, and diseases associated with metabolic dysfunction may be influenced by changes in redox balance. In this review, we summarize the current literature surrounding ROS and their role in metabolic and inflammatory regulation, focusing on ROS signal transduction and its relationship to disease progression...
March 16, 2018: Circulation Research
https://www.readbyqxmd.com/read/29688530/prognostic-impact-of-incisional-or-excisional-biopsy-of-cervical-lymph-node-metastases-of-solid-tumors
#12
Shogo Shinohara, Shinji Takebayashi, Masahiro Kikuchi, Tetsuhiko Michida, Kazuki Hayashi, Ryosuke Yamamoto, Koji Saida, Keisuke Mizuno, Keizo Fujiwara, Yasushi Naito
Objectives: In performing an open biopsy of a neck mass, an incisional biopsy may increase the risk of cancer cell seeding and dissemination that, ultimately, worsens a patient's survival. The aim of this study was to compare the impact of incisional and excisional biopsies of cervical lymph node metastases of solid tumors on patients' survival. Methods: A retrospective review was made of patients with cervical metastases of solid tumors who underwent an open biopsy for a diagnosis between 2005 and 2015...
April 21, 2018: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29682621/surgery-for-metastatic-gastrointestinal-stromal-tumor-to-whom-and-how-to
#13
REVIEW
Hirotoshi Kikuchi, Yoshihiro Hiramatsu, Kinji Kamiya, Yoshifumi Morita, Takanori Sakaguchi, Hiroyuki Konno, Hiroya Takeuchi
Although imatinib is a standard treatment for metastatic or recurrent gastrointestinal stromal tumors (GISTs), acquired c-kit mutations reportedly cause secondary resistance to imatinib. Sunitinib is a tyrosine kinase inhibitor (TKI) that can be used as second-line therapy in imatinib-resistant or -intolerant GISTs. For sunitinib-resistant or -intolerant GISTs, regorafenib is a standard third-line treatment. Although TKI therapies have revolutionized the treatment of recurrent or metastatic GISTs, they cannot cure GISTs...
2018: Translational Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29678472/prognostic-value-of-baseline-serum-c-reactive-protein-level-in-intermediate-risk-group-patients-with-metastatic-renal-cell-carcinoma-treated-by-first-line-vascular-endothelial-growth-factor-targeted-therapy
#14
Kimiharu Takamatsu, Ryuichi Mizuno, Minami Omura, Shinya Morita, Kazuhiro Matsumoto, Kazunobu Shinoda, Takeo Kosaka, Toshikazu Takeda, Toshiaki Shinojima, Eiji Kikuchi, Hiroshi Asanuma, Masafumi Oyama, Shuji Mikami, Mototsugu Oya
BACKGROUND: Almost half of patients with metastatic renal-cell carcinoma (mRCC) are classified as intermediate risk by the International Metastatic Renal Cell Carcinoma Database Consortium (IMDC) model. The aim of this study was to evaluate whether baseline C-reactive protein (CRP) levels predict overall survival (OS) in intermediate-risk group mRCC patients. PATIENTS AND METHODS: Data from 107 intermediate-risk group mRCC patients receiving first-line targeted therapy were retrospectively reviewed...
March 27, 2018: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/29672291/initial-management-of-colonic-diverticular-bleeding-observational-study
#15
Michiko Wada, Motohiko Kato, Yuichiro Hirai, Yoko Kubosawa, Yukie Sunata, Keiichiro Abe, Tetsu Hirata, Yoshiaki Takada, Shigeo Banno, Yusaku Takatori, Satoshi Kinoshita, Hideki Mori, Kaoru Takabayashi, Miho Kikuchi, Masahiro Kikuchi, Masayuki Suzuki, Takanori Kanai, Toshio Uraoka
BACKGROUND/AIMS: Although colonic diverticular bleeding (CDB) often ceases spontaneously, re-bleeding occurs in about 30%. Bleeding diverticulum can be treated directly by endoscopic hemostasis; however, it is difficult to perform colonoscopy in all cases with limited medical resource and certain risks. The aim of this study was to clarify who should undergo colonoscopy as well as appropriate methods of initial management in CDB patients. METHODS: A total of 285 patients who were diagnosed as CDB and underwent colonoscopy from March 2004 to October 2015 were retrospectively analyzed...
April 19, 2018: Digestion
https://www.readbyqxmd.com/read/29671172/effects-of-whole-grain-wheat-bread-on-visceral-fat-obesity-in-japanese-subjects-a-randomized-double-blind-study
#16
Yosuke Kikuchi, Satomi Nozaki, Miki Makita, Shoji Yokozuka, Shin-Ichi Fukudome, Takashi Yanagisawa, Seiichiro Aoe
Metabolic syndrome is a risk factor for cardiovascular diseases and has become increasingly common in Japan. Epidemiological studies show inverse associations between intake of whole wheat grains and metabolic syndrome, but few dietary intervention trials have investigated the effect of whole wheat grain consumption. It was investigated whether a diet in which refined wheat bread (RW diet) was substituted by whole grain wheat bread (WW diet) would reduce visceral fat obesity in Japanese subjects. A randomized double-blind placebo-controlled intervention study was conducted in 50 Japanese subjects with body mass index (BMI) ≥ 23 kg/m2 ...
April 18, 2018: Plant Foods for Human Nutrition
https://www.readbyqxmd.com/read/29660849/comparison-of-hpv-genotyping-and-cytology-triage-compact-study-design-methods-and-baseline-results-in-14-642-women
#17
Satomi Aoyama-Kikawa, Hiromasa Fujita, Sharon J B Hanley, Mitsunori Kasamo, Kokichi Kikuchi, Toshihiko Torigoe, Yoshihiro Matsuno, Akiko Tamakoshi, Takayuki Sasaki, Motoki Matsuura, Yasuhito Kato, Peixin Dong, Hidemichi Watari, Tsuyoshi Saito, Kazuo Sengoku, Noriaki Sakuragi
While cytology-based screening programs have significantly reduced mortality and morbidity from cervical cancer, the global consensus is that primary human papillomavirus (HPV) testing for cervical screening increases detection of high-grade cervical intraepithelial neoplasia (CIN) and invasive cancer. However, the optimal triage strategy for HPV-positive women to avoid over-referral to colposcopy may be setting specific. Since Japan requires data that has been generated domestically to modify screening guidelines, we conducted a 3-year prospective study COMparison of HPV genotyping And Cytology Triage (COMPACT) to evaluate the potential role of HPV16/18 partial genotyping and cytology for primary HPV screening, Totally, 14,642 women aged 20-69yrs undergoing routine screening at three centers in Hokkaido were enrolled...
April 16, 2018: Cancer Science
https://www.readbyqxmd.com/read/29608902/effectiveness-of-home-based-exercises-without-supervision-by-physical-therapists-for-patients-with-early-stage-amyotrophic-lateral-sclerosis-a-pilot-study
#18
Kosuke Kitano, Takashi Asakawa, Naoto Kamide, Keisuke Yorimoto, Masaki Yoneda, Yutaka Kikuchi, Makoto Sawada, Tetsuo Komori
OBJECTIVE: This study aimed to verify the effects of structured home-based exercises without supervision by a physical therapist on patients with early-stage amyotrophic lateral sclerosis (ALS). DESIGN: This is a historical controlled study that is part of a multicenter collaborative study. SETTING: Rehabilitation departments at general hospitals and outpatient clinics with a neurology department in Japan. PARTICIPANTS: Twenty-one patients with ALS were enrolled and designated as the Home-EX group, and they performed unsupervised home-based exercises...
March 30, 2018: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29601870/anti-gm1-ganglioside-antibodies-modulate-membrane-associated-sphingomyelin-metabolism-by-altering-neutral-sphingomyelinase-activity
#19
Akihiro Ueda, Sayuri Shima, Kenitiroh Murate, Kouichi Kikuchi, Ryunosuke Nagao, Toshiki Maeda, Eri Muto, Yoshiki Niimi, Yasuaki Mizutani, Tatsuro Mutoh
Previous studies have shown that patients with Guillain-Barré syndrome express autoantibodies against ganglioside GM1 (GM1), although its pathogenic significance for the development of the disease remains to be elucidated. nSMase2 is the best characterized neutral sphingomyelinase (nSMase) found in neuronal cells. Activation of this enzyme leads to ceramide production, which is a known second messenger of the cell-death program in neuronal cells. We have explored the effects of anti-GM1 antibodies on sphingomyelin metabolism of PC12 cells stably transfected with human trk cDNA (PCtrk cells) by determining their effects on nSMase2 activity...
March 27, 2018: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29567898/kikuchi-s-disease-histiocytic-necrotizing-lymphadenitis-a-rare-presentation-with-acute-kidney-injury-peripheral-neuropathy-and-aseptic-meningitis-with-cutaneous-involvement
#20
Jyoti Jain, Shashank Banait, Iadarilang Tiewsoh, Madhura Choudhari
Kikuchi's disease (KD) also known as histiocytic necrotizing lymphadenitis is rare, idiopathic, generally self-limited cause of lymphadenitis. We present a case of twenty year young female who presented in critically ill state with fever, cervical and axillary lymphadenopathy, rash, vomiting and altered sensorium and found to have neurological, hepatic, renal and dermatological involvement. Kikuchi's disease should be considered in differential diagnosis of fever and lymphadenopathy and though benign can sometimes present with multi-organ involvement...
January 2018: Indian Journal of Pathology & Microbiology
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