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https://www.readbyqxmd.com/read/28888853/monitoring-guidance-for-patients-with-hypophosphatasia-treated-with-asfotase-alfa
#1
REVIEW
Priya S Kishnani, Eric T Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William Fraser, Paul Harmatz, Agnès Linglart, Craig F Munns, Mark E Nunes, Howard M Saal, Lothar Seefried, Keiichi Ozono
Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated with a broad range of signs, symptoms, and complications, including impaired skeletal mineralization, altered calcium and phosphate metabolism, recurrent fractures, pain, respiratory problems, impaired growth and mobility, premature tooth loss, developmental delay, and seizures...
July 25, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28878816/a-child-with-anorexia-nervosa-presenting-with-severe-infection-with-cytopenia-and-hemophagocytosis-a-case-report
#2
Masao Suda, Shinichiro Nagamitsu, Masahiro Kinosita, Michiko Matsuoka, Shuichi Ozono, Yasushi Otsu, Yushiro Yamashita, Toyojiro Matsuishi
BACKGROUND: Patients with anorexia nervosa in the acute phase have physical complications, such as infectious disease. Although hemophagocytic syndrome due to infection is a rare complication in anorexia nervosa, early identification for hemophagocytosis is important for avoiding a life-threatening condition. CASE PRESENTATION: We report a case of a 12-year-old girl with anorexia nervosa presenting with infection with cytopenia and hemophagocytosis during initial nutritional therapy...
2017: BioPsychoSocial Medicine
https://www.readbyqxmd.com/read/28864419/epiphycan-is-specifically-expressed-in-cochlear-supporting-cells-and-is-necessary-for-normal-hearing
#3
Yukiko Hanada, Yukiko Nakamura, Yusuke Ishida, Yasumitsu Takimoto, Manabu Taniguchi, Yoshiyuki Ozono, Yoshihisa Koyama, Tetsuo Morihana, Takao Imai, Yumi Ota, Takashi Sato, Hidenori Inohara, Shoichi Shimada
The study of inner ear specific transcripts has revealed novel information about hereditary hearing loss and a mechanism of normal hearing. In this study, by analyzing a published cDNA library, we focused on Epiphycan (Epyc), a member of the small leucine-rich repeat proteoglycan family, whose transcript is enriched in the inner ear. Epyc mRNA was expressed abundantly and specifically in adult mice cochleae and was localized in supporting cells within the organ of Corti of both neonatal and adult mice. To examine the function of Epyc, we generated Epyc knockout (KO) mice using the CRISPR/Cas9 system...
August 31, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28858381/-microcystic-pattern-should-be-recognized-as-part-of-the-morphologic-spectrum-of-solid-pseudopapillary-neoplasm-of-the-pancreas
#4
Atsushi Abe, Yoshihiro Ohishi, Tetsuyuki Miyazaki, Keigo Ozono, Naoki Mochidome, Kiyoshi Saeki, Masafumi Nakamura, Yoshinao Oda
AIM: Solid pseudopapillary neoplasm (SPN) is an uncommon pancreatic tumor characterized by solid and pseudopapillary growth patterns. We have observed SPNs can show a microcystic pattern (microcystic SPN), which has been poorly described and may be confused with microcystic neoplasms. We conducted the present study to clarify the clinicopathological and immunohistochemical features of microcystic SPNs. METHOD: We examined a consecutive series of 44 SPNs and 10 SCAs, and we classified them into 13 microcystic SPNs (29...
August 31, 2017: Histopathology
https://www.readbyqxmd.com/read/28842795/x-linked-hypomyelination-with-spondylometaphyseal-dysplasia-h-smd-associated-with-mutations-in-aifm1
#5
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J Bent, Karen W Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A Neubauer, Cas Simons, Adeline Vanderver
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessive inheritance...
August 26, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28828352/report-of-the-second-asian-prostate-cancer-a-cap-study-meeting
#6
Choung-Soo Kim, Ji Youl Lee, Byung Ha Chung, Wun-Jae Kim, Ng Chi Fai, Lukman Hakim, Rainy Umbas, Teng Aik Ong, Jasmine Lim, Jason L Letran, Edmund Chiong, Tong-Lin Wu, Bannakij Lojanapiwat, Levent Türkeri, Declan G Murphy, Robert A Gardiner, Kim Moretti, Matthew Cooperberg, Peter Carroll, Seong Ki Mun, Shiro Hinotsu, Yoshihiko Hirao, Seiichiro Ozono, Shigeo Horie, Mizuki Onozawa, Yasuhide Kitagawa, Tadaichi Kitamura, Mikio Namiki, Hideyuki Akaza
The Asian Prostate Cancer (A-CaP) Study is an Asia-wide initiative that has been developed over the course of 2 years. The study was launched in December 2015 in Tokyo, Japan, and the participating countries and regions engaged in preparations for the study during the course of 2016, including patient registration and creation of databases for the purpose of the study. The Second A-CaP Meeting was held on September 8, 2016 in Seoul, Korea, with the participation of members and collaborators from 12 countries and regions...
September 2017: Prostate International
https://www.readbyqxmd.com/read/28804209/endocrinological-and-phenotype-evaluation-in-a-patient-with-acrodysostosis
#7
Kaoru Ueyama, Noriyuki Namba, Taichi Kitaoka, Keiko Yamamoto, Makoto Fujiwara, Yasuhisa Ohata, Takuo Kubota, Keiichi Ozono
Acrodysostosis is characterized by distinctive facial features and severe brachydactyly. Mutations in PRKAR1A or PDE4D are known to be responsible for this disease. Cases of hormonal resistance have been reported, particularly in patients with PRKAR1A mutations. The physical characteristics and endocrine function of pseudohypoparathyroidism type Ia is known to resemble acrodysostosis. We report the case of a 4-yr-old patient with a PRKAR1A mutation. He had characteristic facies with an upturned nose and cone-shaped epiphyses of most phalanges...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28701683/efficacy-and-safety-of-octreotide-for-the-treatment-of-congenital-hyperinsulinism-a-prospective-open-label-clinical-trial-and-an-observational-study-in-japan-using-a-nationwide-registry
#8
Yuki Hosokawa, Rie Kawakita, Susumu Yokoya, Tsutomu Ogata, Keiichi Ozono, Osamu Arisaka, Yukihiro Hasegawa, Satoshi Kusuda, Michiya Masue, Hironori Nishibori, Toshimi Sairenchi, Tohru Yorifuji
Octreotide, a long-acting somatostatin analog, has been used for treating hypoglycemia caused by congenital hyperinsulinism (CHI). However, octreotide has not been evaluated in clinical trials and has not been approved in any developed country. We aimed to test the efficacy and safety of octreotide for diazoxide-unresponsive CHI through a combination of a single-arm, open-label clinical trial (SCORCH study) and an observational study to collect data on the clinical course of patients treated off-label in Japan (SCORCH registry)...
July 11, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28686930/characterization-of-the-o-antigen-polysaccharide-derived-from-pantoea-agglomerans-ig1-lipopolysaccharide
#9
Masahito Hashimoto, Rune Satou, Mami Ozono, Hiroyuki Inagawa, Gen-Ichiro Soma
A polysaccharide fraction was isolated from the Pantoea agglomerans IG1 lipopolysaccharide (IP-PA1), and its O-antigenic polysaccharide was characterized by chemical analyses and 1D and 2D (1)H and (13)C NMR spectroscopy. The polysaccharide is composed of linear tetrasaccharide repeating units, consisting of glucose and rhamnose, where 40% of one of the rhamnose residues is substituted with glucose: →2)-α-l-Rhap-(1→6)-α-d-Glcp-(1→2)-[β-d-Glcp-(1→3)]0.4-α-l-Rhap-(1→2)-α-l-Rhap-(1→.
September 8, 2017: Carbohydrate Research
https://www.readbyqxmd.com/read/28606014/tlr2-stimulating-contaminants-in-glycoconjugate-fractions-prepared-from-bacteroides-fragilis
#10
Masahito Hashimoto, Junpei Waki, Haruyuki Nakayama-Imaohji, Mami Ozono, Shuhei Hashiguchi, Tomomi Kuwahara
Bacteroides fragilis is a member of the normal intestinal flora and is involved in host immunostimulation via TLR2. On the bacterial cell surface, glycoconjugates, such as LPS and capsular polysaccharide A (PSA), have been reported to participate in host immunostimulation via TLR2. Previously, we identified a TLR2-stimulating lipoprotein in B. fragilis cells. In this study, we demonstrated that TLR2-stimulating principal molecules in glycoconjugate fractions prepared from B. fragilis are contaminating proteinous molecules, which may also be lipoproteins...
January 1, 2017: Innate Immunity
https://www.readbyqxmd.com/read/28604655/brain-derived-neurotrophic-factor-tropomyosin-related-kinase-b-signaling-pathway-contributes-to-the-aggressive-behavior-of-lung-squamous-cell-carcinoma
#11
Keigo Ozono, Yoshihiro Ohishi, Hideya Onishi, Katsuya Nakamura, Junichi Motoshita, Masato Kato, Ryoichi Nakanishi, Masafumi Nakamura, Yoshinao Oda
The tropomyosin-related kinase (Trk) family consists of TrkA, TrkB, and TrkC, which play essential roles in tumor progression and/or suppression in various cancers. Little is known about the biological significance of the Trk family in human lung squamous cell carcinoma (SCC). Here we investigated the clinical significance of the protein expression of Trk family members in samples from 99 SCC patients, and we explored the relationship between invasion/proliferation activities and Trk expression using lung SCC cell lines to clarify the biological significance of the Trk family in lung SCC...
June 12, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28556954/transcatheter-arterial-embolization-in-normal-canine-liver
#12
Yasuhisa Oishi, Kenji Tani, Koushiro Ozono, Kazuhito Itamoto, Tomoya Haraguchi, Yasuho Taura
OBJECTIVE: To determine the effects of selective transcatheter arterial embolization (TAE) in the normal canine liver. STUDY DESIGN: Experimental study. ANIMALS: Adult Beagle dogs (n = 5). METHODS: Gelatin sponge particles (GSPs) were injected through a microcatheter for selective embolization of the left hepatic artery in normal dogs. Computed tomography (CT) and histology were performed during an 8-week observation period; biochemical analysis data were obtained during a 12-week observation period after TAE...
May 29, 2017: Veterinary Surgery: VS
https://www.readbyqxmd.com/read/28509123/serum-calcitriol-levels-in-a-patient-with-x-linked-hypophosphatemia-complicated-by-autosomal-dominant-polycystic-kidney-disease
#13
Satomi Kajita, Takehisa Yamamoto, Naoko Tsugawa, Hirohumi Nakayama, Takuo Kubota, Toshimi Michigami, Keiichi Ozono
Serum calcitriol [1,25(OH)2D] levels are low normal in the presence of hypophosphatemia in X-linked dominant hypophosphatemic rickets (XLH) due to elevated serum fibroblast growth factor 23 (FGF23) levels. We report a peculiar finding of markedly elevated serum 1,25(OH)2D levels in a patient with XLH complicated by autosomal dominant polycystic kidney disease (ADPKD) and retinitis pigmentosa (RP). She was diagnosed with XLH, ADPKD and RP at the age of 5, 13 and 15 years, respectively. After the diagnosis of ADPKD, the 1,25(OH)2D levels increased up to 282 pg/mL treated with a pharmacological dose of 1αOHD3 (1αOHD3)...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28458460/childbirth-and-fertility-preservation-in-childhood-and-adolescent-cancer-patients-a-second-national-survey-of-japanese-pediatric-endocrinologists
#14
Yoko Miyoshi, Tohru Yorifuji, Reiko Horikawa, Ikuko Takahashi, Keisuke Nagasaki, Hiroyuki Ishiguro, Ikuma Fujiwara, Junko Ito, Mari Oba, Hiroyuki Fujisaki, Masashi Kato, Chikako Shimizu, Tomoyasu Kato, Kimikazu Matsumoto, Haruhiko Sago, Tetsuya Takimoto, Hiroshi Okada, Nao Suzuki, Susumu Yokoya, Tsutomu Ogata, Keiichi Ozono
Although existing guidelines recommend long-term follow-up of childhood cancer survivors (CCSs), their fertility has not been fully investigated in Japan. To address this issue, we organized a working panel consisting of medical specialists in foundation hospitals. We conducted questionnaire surveys targeting pediatric endocrinologists regarding reproduction in pediatric and adolescent cancer patients in collaboration with the CCS committee of the Japanese Society for Pediatric Endocrinology (JSPE). The first questionnaire was sent to 178 directors or councilors of the JSPE, and the second was sent to those who had provided answers on their experience with childbirth or fertility preservation...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28423707/tropomyosin-related-kinase-b-mediated-signaling-contributes-to-the-induction-of-malignant-phenotype-of-gallbladder-cancer
#15
Makoto Kawamoto, Hideya Onishi, Keigo Ozono, Akio Yamasaki, Akira Imaizumi, Sachiko Kamakura, Kenji Nakano, Yoshinao Oda, Hideki Sumimoto, Masafumi Nakamura
This study aims to demonstrate the clinical and biological significance of Brain derived neurotrophic factor (BDNF)/Tropomyosin-related kinase B (TrkB) signaling in gallbladder cancer (GBC) through a series of in vitro and in vivo experiments. TrkB expression was detected in 63 (91.3%) out of 69 surgically resected primary GBC specimens by immunohistochemistry. TrkB expression in the invasive front correlated with T factor (p=0.0391) and clinical staging (p=0.0391). Overall survival was lower in patients with high TrkB expression in the invasive front than in those with low TrkB expression (p=0...
May 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28419248/nivolumab-versus-everolimus-in-advanced-renal-cell-carcinoma-japanese-subgroup-analysis-from-the-checkmate-025-study
#16
Yoshihiko Tomita, Satoshi Fukasawa, Nobuo Shinohara, Hiroshi Kitamura, Mototsugu Oya, Masatoshi Eto, Kazunari Tanabe, Go Kimura, Junji Yonese, Masahiro Yao, Robert J Motzer, Hirotsugu Uemura, M Brent McHenry, Elmer Berghorn, Seiichiro Ozono
Background: Nivolumab improved overall survival (OS) and objective response rate (ORR) versus everolimus in previously treated patients with advanced renal cell carcinoma in the phase III CheckMate 025 study (minimum follow-up: 14 months). We report efficacy and safety in the global and Japanese populations (minimum follow-up: 26 months). Methods: Patients were randomized 1:1 to receive nivolumab 3 mg/kg intravenously every 2 weeks or everolimus 10-mg tablet orally once daily...
July 1, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28396582/a-pair-of-maternal-chromosomes-derived-from-meiotic-nondisjunction-in-trisomy-21-affects-nuclear-architecture-and-transcriptional-regulation
#17
Sayaka Omori, Hideyuki Tanabe, Kimihiko Banno, Ayumi Tsuji, Nobutoshi Nawa, Katsuya Hirata, Keiji Kawatani, Chikara Kokubu, Junji Takeda, Hidetoshi Taniguchi, Hitomi Arahori, Kazuko Wada, Yasuji Kitabatake, Keiichi Ozono
Eukaryotic genomes are organised into complex higher-order structures within the nucleus, and the three-dimensional arrangement of chromosomes is functionally important for global gene regulation. The existence of supernumerary chromosome 21 in Down syndrome may perturb the nuclear architecture at different levels, which is normally optimised to maintain the physiological balance of gene expression. However, it has not been clearly elucidated whether and how aberrant configuration of chromosomes affects gene activities...
April 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28374482/safety-and-efficacy-of-treatment-with-asfotase-alfa-in-patients-with-hypophosphatasia-results-from-a-japanese-clinical-trial
#18
Taichi Kitaoka, Toshihiro Tajima, Keisuke Nagasaki, Toru Kikuchi, Katsusuke Yamamoto, Toshimi Michigami, Satoshi Okada, Ikuma Fujiwara, Masayuki Kokaji, Hiroshi Mochizuki, Tsutomu Ogata, Koji Tatebayashi, Atsushi Watanabe, Shuichi Yatsuga, Takuo Kubota, Keiichi Ozono
OBJECTIVE: Hypophosphatasia (HPP) is a rare skeletal disease characterized by hypomineralization and low alkaline phosphatase activity. Asfotase alfa (AA) has been recently developed to treat HPP complications. This study evaluated its safety and efficacy in Japan. DESIGN: Open-label, multicentre, prospective trial. Patients were enrolled in 11 hospitals from June 2014 to July 2015. PATIENTS: Thirteen patients (9 females, 4 males) ages 0 days to 34 years at baseline were enrolled and treated with AA (2 mg/kg three times weekly subcutaneously in all but one patient)...
April 4, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28337824/phenotype-genotype-correlations-of-pigo-deficiency-with-variable-phenotypes-from-infantile-lethality-to-mild-learning-difficulties
#19
Junpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, Nobuhiko Okamoto, Daisuke Fukushi, Koji Tominaga, Hiroyuki Kidokoro, Yukako Muramatsu, Eriko Nishi, Shota Nakamura, Daisuke Motooka, Noriko Nomura, Kiyoshi Hayasaka, Tetsuya Niihori, Yoko Aoki, Shin Nabatame, Masahiro Hayakawa, Jun Natsume, Keiichi Ozono, Taroh Kinoshita, Nobuaki Wakamatsu, Yoshiko Murakami
Inherited GPI (glycosylphosphatidylinositol) deficiencies (IGDs), a recently defined group of diseases, show a broad spectrum of symptoms. Hyperphosphatasia mental retardation syndrome, also known as Mabry syndrome, is a type of IGDs. There are at least 26 genes involved in the biosynthesis and transport of GPI-anchored proteins; however, IGDs constitute a rare group of diseases, and correlations between the spectrum of symptoms and affected genes or the type of mutations have not been shown. Here, we report four newly identified and five previously described Japanese families with PIGO (phosphatidylinositol glycan anchor biosynthesis class O) deficiency...
July 2017: Human Mutation
https://www.readbyqxmd.com/read/28336823/-regulatory-mechanism-of-calcium-metabolism
#20
Keiichi Ozono
It is often difficult for terrestrial animals to take enough calcium. To maintain serum or extracellular calcium levels is very important for muscle and nerve function. Two major regulators to increase the serum calcium levels are parathyroid hormone(PTH)and vitamin D. PTH binds to the G protein coupling receptor, PTH1R, and increases intracellular cAMP levels. Impirement in the PTH signalling causes many diseases such as pseudohypoparathyroidism and acrodysostosis with hormone resistance. Vitamin D is activated to 1,25-dihydroxyvitamin D[1,25(OH)2D]by two steps of hydroxylation which occurs in the Liver and Kidney...
2017: Clinical Calcium
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