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https://www.readbyqxmd.com/read/28337824/phenotype-genotype-correlations-of-pigo-deficiency-with-variable-phenotypes-from-infantile-lethality-to-mild-learning-difficulties
#1
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...
March 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28336823/-regulatory-mechanism-of-calcium-metabolism
#2
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
https://www.readbyqxmd.com/read/28334974/efficacy-and-safety-of-sequential-use-of-everolimus-in-japanese-patients-with-advanced-renal-cell-carcinoma-after-failure-of-first-line-treatment-with-vascular-endothelial-growth-factor-receptor-tyrosine-kinase-inhibitor-a-multicenter-phase-ii-clinical-trial
#3
Masafumi Oyama, Takayuki Sugiyama, Masahiro Nozawa, Kiyohide Fujimoto, Takeshi Kishida, Go Kimura, Noriaki Tokuda, Shiro Hinotsu, Kojiro Shimozuma, Hideyuki Akaza, Seiichiro Ozono
Objective: Many studies have shown the efficacy of everolimus after pretreatment with vascular endothelial growth factor receptor-tyrosine kinase inhibitors. We investigated the efficacy and safety of everolimus as a second-line treatment after the failure of vascular endothelial growth factor receptor-tyrosine kinase inhibitor therapy in Japanese patients with advanced renal cell carcinoma. Methods: This was an open-label, multicenter, phase II trial conducted in Japan through the central registration system...
March 1, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28334771/efficacy-and-safety-of-a-3-month-dosing-regimen-of-degarelix-in-japanese-patients-with-prostate-cancer-a-phase-ii-maintenance-dose-finding-study
#4
Seiichiro Ozono, Taiji Tsukamoto, Seiji Naito, Yasuo Ohashi, Takeshi Ueda, Tsutomu Nishiyama, Hideki Maeda, Hidehito Kusuoka, Rio Akazawa, Mototsugu Ito, Hideyuki Akaza
Objective: To evaluate the efficacy and safety of degarelix 3-month depot in Japanese patients with prostate cancer. Methods: In this Phase II, open-label, parallel-group study, 155 Japanese prostate cancer patients were randomized to treatment with degarelix administered subcutaneously at a maintenance dose of 360 or 480 mg every 84 days for 12 months, after receiving an initial dose of 240 mg. The primary endpoint was the cumulative probability of serum testosterone ≤0...
February 18, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28314328/comparison-of-tyrosine-kinase-inhibitor-versus-mammalian-target-of-rapamycin-inhibitor-as-second-line-molecular-targeted-therapy-for-patients-with-poor-risk-metastatic-renal-cell-carcinoma
#5
Hideaki Miyake, Satoshi Imai, Keita Tamura, Takayuki Sugiyama, Hiroshi Furuse, Seiichiro Ozono, Masato Fujisawa
AIM: The objective of this study was to compare the efficacies of tyrosine kinase inhibitor (TKI) and mammalian target of rapamycin inhibitor (mTORI) as second-line molecular-targeted therapy in patients with poor-risk metastatic renal cell carcinoma (mRCC). PATIENTS AND METHODS: This study included 89 consecutive patients with mRCC who were classified into a poor-risk group after the failure of first-line molecular-targeted agent and subsequently received second-line targeted therapy...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28303679/contralateral-pneumothorax-during-retroperitoneal-laparoscopic-donor-nephrectomy-a-case-report
#6
Yuto Matsushita, Hideaki Miyake, Daisuke Motoyama, Takayuki Sugiyama, Masao Nagata, Atsushi Otsuka, Hiroshi Furuse, Seiichiro Ozono
This report presents a case of a 46-year-old woman in whom contralateral pneumothorax occurred during retroperitoneal laparoscopic donor nephrectomy without any evidence of diaphragmatic injuries. After the start of carbon dioxide-induced pneumoperitoneum, the patient's end-tidal carbon dioxide pressure and heart rate suddenly increased. The surgery was then paused, and a chest X-ray revealed a right pneumothorax accompanied by pneumomediastinum. After a thoracostomy tube was inserted, these symptoms immediately improved...
March 17, 2017: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/28302935/factor-x-deficiency-with-heterozygous-mutations-of-novel-p-g435s-and-known-p-g244r-in-a-patient-presenting-with-severe-umbilical-hemorrhage
#7
Yoko Matsuo, Tatsuki Mizuochi, Miho Mitsuo, Shinichiro Nakagawa, Shuichi Ozono, Koichiro Ueda, Yoko Sogabe, Ritsuko Seki, Kenji Soejima, Takashi Okamura, Yushiro Yamashita
A 10-day-old male patient was referred to our hospital with severe umbilical bleeding. Prothrombin time (PT) and activated partial thromboplastin time (APTT) were prominently prolonged. Plasma coagulation factor X (FX) activity and antigen levels were 1% and 0.6%, respectively. A DNA sequence analysis of his leukocytes revealed a compound heterozygous state; known Gly244 to Arg (p.G244R) in exon 6 and a novel mutation of Gly 435 to Ser (p.G435S) in exon 8. A pedigree analysis showed that p.G244R originated from the paternal side, while p...
March 15, 2017: Kurume Medical Journal
https://www.readbyqxmd.com/read/28301687/effect-of-high-frequency-bio-oxidative-ozone-therapy-for-masticatory-muscle-pain-a-double-blind-randomized-clinical-trial
#8
Tamer Celakil, Almina Muric, Bilge Gokcen Roehlig, Gulumser Evlioglu, Haluk Keskin
OBJECTIVES: To evaluate the effect of bio-oxidative ozone application at the points of greatest pain in patients with chronic masticatory muscle pain. METHODS: A total number of 40 (40 women, with a mean age of 31.7) were selected after the diagnosis of myofacial pain dysfunction syndrome according to the Research Diagnostic Criteria for Temporomandibular Disorder (RDC/TMD). The patients were randomly divided into two groups; patients received the ozone therapy at the point of greatest pain, ozone group (n = 20); patients received the sham ozone therapy at the point of greatest pain, placebo group (n = 20)...
March 16, 2017: Journal of Oral Rehabilitation
https://www.readbyqxmd.com/read/28292269/functional-analysis-of-fatty-acid-binding-protein-7-and-its-effect-on-fatty-acid-of-renal-cell-carcinoma-cell-lines
#9
Naohisa Takaoka, Tatsuya Takayama, Seiichiro Ozono
BACKGROUND: Renal cell carcinomas (RCCs) overexpress fatty acid binding protein 7 (FABP7). We chose to study the TUHR14TKB cell line, because it expresses higher levels of FABP7 than other cell lines derived from renal carcinomas (OS-RC-2, 786-O, 769-P, Caki-1, and ACHN). METHODS: FABP7 expression was detected using western blotting and real-time PCR. Cell proliferation was determined using an MTS assay and by directly by counting cells. The cell cycle was assayed using flow cytometry...
March 14, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28291966/molecular-characteristics-of-pancreatic-ductal-adenocarcinomas-with-high-grade-pancreatic-intraepithelial-neoplasia-panin-are-different-from-those-without-high-grade-panin
#10
Tetsuyuki Miyazaki, Yoshihiro Ohishi, Yoshihiro Miyasaka, Yasunori Oda, Shinichi Aishima, Keigo Ozono, Atsushi Abe, Eishi Nagai, Masafumi Nakamura, Yoshinao Oda
AIMS: We reported that pancreatic ductal adenocarcinomas (PDACs) without high-grade pancreatic intraepithelial neoplasia (PanIN) in the vicinity had worse prognoses than PDACs with high-grade PanIN. However, the molecular characteristics of PDACs with and without high-grade PanIN have not been compared. The aim of this study is to clarify the molecular characteristics of PDACs with and without high-grade PanIN. METHOD AND RESULTS: We reviewed all of a consecutive series of 100 patients with PDACs and divided them into 2 groups: the PDACs with PanIN-2 or PanIN-3 in the background (the PanIN-high group, n = 60) and the PDACs without PanIN-2 or PanIN-3 in the background (the PanIN-low group, n = 40)...
March 15, 2017: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28264533/-evaluation-of-ct-guided-percutaneous-needle-biopsy-for-diagnosis-of-renal-tumor
#11
Taiki Kato, Takayuki Sugiyama, Yuto Matsushita, Takahisa Suzuki, Daisuke Motoyama, Rikiya Matsumoto, Atsushi Otsuka, Hiroshi Furuse, Hiroe Tsukui, Takasuke Ushio, Hatsuko Nasu, Seiichiro Ozono
We performed computed tomographic (CT)-guided percutaneous needle biopsy for renal tumors that were difficult to diagnose or were inoperable malignant renal tumors. Nineteen patients who underwent CT-guided percutaneous needle biopsy between November 2007 and March 2015 at Hamamatsu University Hospital were included in this study. The median tumor diameter was 78 mm (40-140 mm). Seventeen patients were diagnosed pathologically by biopsy, but 2 patients could not be diagnosed despite the existence of adequate sample volume...
February 2017: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/28203042/relationship-between-dose-of-antithyroid-drugs-and-adverse-events-in-pediatric-patients-with-graves-disease
#12
Kie Yasuda, Yoko Miyoshi, Makiko Tachibana, Noriyuki Namba, Kazunori Miki, Yukiko Nakata, Toru Takano, Keiichi Ozono
Graves' disease (GD) accounts for a large proportion of pediatric hyperthyroidism, and the first-line treatment is antithyroid drug (ATD) therapy. Methimazole (MMI) is effective in most patients but is associated with significant adverse events (AEs). We reviewed the medical records of GD patients (n = 56) with onset age of <15 yr and investigated the relationship between MMI dose and AEs. The study population comprised 11 male and 45 female patients and the median age at diagnosis was 11 yr. All patients were initially treated with ATDs...
January 2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28202835/-a-very-rare-case-of-diffuse-subependymal-metastases-from-small-cell-lung-carcinoma
#13
Ichiro Kawahara, Takashi Fujimoto, Keisuke Ozono, Makoto Hirose, Keisuke Toyoda, Naoki Kitagawa, Tooru Ikeda, Kazuyoshi Uchihashi
While parenchymal metastases are common in solid systemic cancers, subependymal metastases are rare. Approximately half of the reported cases of intraventricular metastases originate from renal carcinoma. A 65-year-old man presented with general fatigue, appetite loss, nausea, and disorientation. Radiological examination revealed diffuse periventricular tumors. The patient underwent an open biopsy via right frontotemporal craniotomy. The patient was diagnosed with metastatic small cell lung carcinoma after histopathological examination...
February 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28188090/independent-association-between-time-to-prostate-specific-antigen-psa-nadir-and-psa-progression-free-survival-in-patients-with-docetaxel-na%C3%A3-ve-metastatic-castration-resistant-prostate-cancer-receiving-abiraterone-acetate-but-not-enzalutamide
#14
Hideaki Miyake, Takuto Hara, Keita Tamura, Takayuki Sugiyama, Hiroshi Furuse, Seiichiro Ozono, Masato Fujisawa
PURPOSE: The objective of this study was to compare the prognostic effect of time to prostate-specific antigen (PSA) nadir (TTPN) after treatment with abiraterone acetate (AA) and enzalutamide (Enz) in patients with docetaxel-naïve, metastatic castration-resistant prostate cancer (mCRPC). METHODS: This study included a total of 297 consecutive patients with mCRPC, of whom 125 and 172 received AA and Enz, respectively, without previous treatment with docetaxel and subsequently achieved any degree of PSA reduction after the administration of either agent...
February 7, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28152259/four-dimensional-phase-contrast-vastly-undersampled-isotropic-projection-reconstruction-4d-pc-vipr-mr-evaluation-of-the-renal-arteries-in-transplant-recipients-preliminary-results
#15
Daisuke Motoyama, Yasuo Ishii, Yasuo Takehara, Masataka Sugiyama, Wang Yang, Hatsuko Nasu, Takasuke Ushio, Yuko Hirose, Naoki Ohishi, Tetsuya Wakayama, Hiroyuki Kabasawa, Kevin Johnson, Oliver Wieben, Harumi Sakahara, Seiichiro Ozono
PURPOSE: To assess the performance of four-dimensional phase-contrast vastly undersampled isotropic projection reconstruction (4D PC-VIPR) at 3.0T in depicting intrarenal arteries compared with computed tomography angiography (CTA), and its correlation with arterial flowmetry in comparison with Doppler ultrasonography (DUS). MATERIALS AND METHODS: In our prospective single-arm study, subjects were 25 patients who underwent renal transplant-related surgery at our hospital between July 2011 and June 2015...
February 2, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28103662/-strangulation-of-the-penis-by-four-metallic-washers
#16
Yuto Matsushita, Hiroshi Furuse, Rikiya Matsumoto, Takayuki Sugiyama, Masao Nagata, Atsushi Otsuka, Seiichiro Ozono
We report here a case of strangulation of the penis. A 69-year-old male visited our hospital suffering from a swollen penis and dysuria after installation of four metallic washers to the penis. He had mischievously put them on his penis four days before and subsequently was unable to remove them. We found erosion on the surface of the penis, reduction in blood flow by ultrasonography, and high C-reactive protein levels. Because we could not remove washers by blood removal from glans penis or ring cutter, we performed percutaneous cystostomy and then cut the washers with an electric grinder under general anesthesia...
December 2016: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/28100861/-a-case-of-intracranial-localized-castleman-s-disease-mimicking-convexity-meningioma
#17
Keisuke Ozono, Takashi Fujimoto, Makoto Hirose, Ichiro Kawahara, Kazuyoshi Uchihashi
A 68-year-old man presented with abnormal behavior and Todd's paralysis on the right side after having taken a bath. Computed tomography and magnetic resonance imaging revealed a tumor mimicking convexity meningioma that had a perifocal edema, although its mass was not very large. The patient underwent surgery, and full recovery was achieved following a total removal of the lesion. Pathohistological examination demonstrated an intermediate type of Castleman's disease. The final diagnosis was intracranial localized Castleman's disease because the results of the full physical examination and laboratory analyses were normal...
January 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28063845/comparative-assessment-of-efficacies-between-2%C3%A2-alternative-therapeutic-sequences-with-novel%C3%A2-androgen-receptor-axis-targeted-agents%C3%A2-in-patients-with-chemotherapy-na%C3%A3-ve-metastatic-castration-resistant-prostate-cancer
#18
Hideaki Miyake, Takuto Hara, Keita Tamura, Takayuki Sugiyama, Hiroshi Furuse, Seiichiro Ozono, Masato Fujisawa
BACKGROUND: The objective of this study was to compare the efficacies of sequential therapies with novel androgen receptor-axis-targeted (ARAT) agents in patients with docetaxel-naïve metastatic castration-resistant prostate cancer (mCRPC). PATIENTS AND METHODS: This study included 108 consecutive patients with mCRPC who sequentially received abiraterone acetate (AA) and enzalutamide (Enz), in either order, without prior treatment with docetaxel. The combined prostate-specific antigen (PSA) progression-free survival (PFS) was defined as the sum of PFS1 and PFS2, representing PSA PFSs on the first and second ARAT agents, respectively...
December 22, 2016: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28050601/progeroid-syndrome-patients-with-zmpste24-deficiency-could-benefit-when-treated-with-rapamycin-and-dimethylsulfoxide
#19
Baris Akinci, Shireesha Sankella, Christopher Gilpin, Keiichi Ozono, Abhimanyu Garg, Anil K Agarwal
Patients with progeroid syndromes such as mandibuloacral dysplasia, type B (MADB) and restrictive dermopathy (RD) harbor mutations in zinc metalloproteinase (ZMPSTE24), an enzyme essential for posttranslational proteolysis of prelamin A to form mature lamin A. Dermal fibroblasts from these patients show increased nuclear dysmorphology and reduced proliferation; however, the efficacy of various pharmacological agents in reversing these cellular phenotypes remains unknown. In this study, fibroblasts from MADB patients exhibited marked nuclear abnormalities and reduced proliferation that improved upon treatment with rapamycin and dimethylsulfoxide but not with other agents, including farnesyl transferase inhibitors...
January 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28042030/ectopic-expression-of-the-cdk-inhibitor-p21-cip1-enhances-deregulated-e2f-activity-and-increases-cancer-cell-specific-cytotoxic-gene-expression-mediated-by-the-arf-tumor-suppressor-promoter
#20
Kenta Kurayoshi, Ayumi Shiromoto, Eiko Ozono, Ritsuko Iwanaga, Andrew P Bradford, Keigo Araki, Kiyoshi Ohtani
In cancer treatment, specifically targeting cancer cells is important for optimal therapeutic efficacy. One strategy is to utilize a cancer specific promoter to express a cytotoxic gene or a viral gene required for replication. In this approach, the therapeutic window is dependent on the relative promoter activity in cancer cells versus normal cells. Therefore, a promoter with optimal cancer cell-specificity should be used. The tumor suppressor ARF promoter, which specifically responds to deregulated E2F activity, is a potent candidate...
January 29, 2017: Biochemical and Biophysical Research Communications
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