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https://www.readbyqxmd.com/read/29346770/integrative-analyses-of-de-novo-mutations-provide-deeper-biological-insights-into-autism-spectrum-disorder
#1
Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto
Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the "de novo paradigm" of ASDs across ethnicities. Based on this consistency, we combine the lists of damaging DNMs in our and published ASD cohorts (total number of trios, 4,244) and perform integrative bioinformatics analyses. Besides replicating the findings of previous studies, our analyses highlight ATP-binding genes and fetal cerebellar/striatal circuits...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29346768/activation-of-ampk-regulated-crh-neurons-in-the-pvh-is-sufficient-and-necessary-to-induce-dietary-preference-for-carbohydrate-over-fat
#2
Shiki Okamoto, Tatsuya Sato, Michihiro Tateyama, Haruaki Kageyama, Yuko Maejima, Masanori Nakata, Satoshi Hirako, Takashi Matsuo, Sanda Kyaw, Tetsuya Shiuchi, Chitoku Toda, Udval Sedbazar, Kumiko Saito, Nur Farehan Asgar, Boyang Zhang, Shigefumi Yokota, Kenta Kobayashi, Fabienne Foufelle, Pascal Ferré, Masamitsu Nakazato, Hiroaki Masuzaki, Seiji Shioda, Toshihiko Yada, Barbara B Kahn, Yasuhiko Minokoshi
Food selection is essential for metabolic homeostasis and is influenced by nutritional state, food palatability, and social factors such as stress. However, the mechanism responsible for selection between a high-carbohydrate diet (HCD) and a high-fat diet (HFD) remains unknown. Here, we show that activation of a subset of corticotropin-releasing hormone (CRH)-positive neurons in the rostral region of the paraventricular hypothalamus (PVH) induces selection of an HCD over an HFD in mice during refeeding after fasting, resulting in a rapid recovery from the change in ketone metabolism...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29346536/residual-carcinoma-cells-after-chemoradiotherapy-for-esophageal-squamous-cell-carcinoma-patients-striving-toward-appropriate-judgment-of-biopsy
#3
F Fujishima, Y Taniyama, Y Nakamura, H Okamoto, Y Ozawa, K Ito, H Ishida, T Konno-Kumagai, A Kasajima, S Taniuchi, M Watanabe, T Kamei, H Sasano
In esophageal squamous cell carcinoma (ESCC) patients who are treated with chemoradiotherapy (CRT), identification of the presence or absence of residual or recurrent carcinoma is usually pivotal in their clinical management. In addition, the extent of carcinoma invasion into the esophageal wall could determine the clinical outcome of these patients following CRT. Therefore, in this study, we evaluated the response to CRT both macroscopically and histologically in a consecutive series of 42 ESCC patients receiving neoadjuvant chemoradiotherapy following curative esophageal resection at Tohoku University Hospital between August 2011 and December 2012...
January 13, 2018: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
https://www.readbyqxmd.com/read/29346322/regioselective-synthesis-of-procyanidin-b6-a-4-6-condensed-catechin-dimer-by-intramolecular-condensation
#4
Yusuke Higashino, Taisuke Okamoto, Kazuki Mori, Takashi Kawasaki, Masahiro Hamada, Noriyuki Nakajima, Akiko Saito
Proanthocyanidins, also known as condensed tannins or oligomeric flavonoids, are found in many edible plants and exhibit interesting biological activities. Herein, we report a new, simple method for the stereoselective synthesis of procyanidin B6, a (+)-catechin-(4-6)-(+)-catechin dimer, by Lewis acid-catalyzed intramolecular condensation. The 5-O-t-butyldimethylsilyl (TBDMS) group of 5,7,3'4'-tetra-O-TBDMS-(+)-catechin was regioselectively removed using trifluoroacetic acid, leading to the "regio-controlled" synthesis of procyanidin B6...
January 18, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29344239/prognostic-impact-of-preoperative-serum-interleukin-6-levels-in-patients-with-early-stage-oral-squamous-cell-carcinoma-defined-by-sentinel-node-biopsy
#5
Hiroyuki Goda, Masato Okamoto, Koh-Ichi Nakashiro, Satoshi Hino, Ryuichi Murase, Hiroyuki Hamakawa
Failure to detect recurrence and lymph node metastasis early represents a fundamental barrier to the improvement of survival rate in early stage oral squamous cell carcinoma (OSCC). The present study evaluated the association between serum interleukin-6 (IL-6) level and clinical outcomes in patients with early stage OSCC patients defined by sentinel node biopsy (SNB). A total of 53 patients with clinical stage I/II OSCC who underwent SNB were enrolled. SNB was determined by a radioisotope method, and was evaluated by histopathological examination and genetic analysis...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29343775/impact-of-concurrent-genomic-alterations-detected-by-comprehensive-genomic-sequencing-on-clinical-outcomes-in-east-asian-patients-with-egfr-mutated-lung-adenocarcinoma
#6
Seijiro Sato, Masayuki Nagahashi, Terumoto Koike, Hiroshi Ichikawa, Yoshifumi Shimada, Satoshi Watanabe, Toshiaki Kikuchi, Kazuki Takada, Ryota Nakanishi, Eiji Oki, Tatsuro Okamoto, Kouhei Akazawa, Stephen Lyle, Yiwei Ling, Kazuaki Takabe, Shujiro Okuda, Toshifumi Wakai, Masanori Tsuchida
Next-generation sequencing (NGS) has enabled comprehensive detection of genomic alterations in lung cancer. Ethnic differences may play a critical role in the efficacy of targeted therapies. The aim of this study was to identify and compare genomic alterations of lung adenocarcinoma between Japanese patients and the Cancer Genome Atlas (TCGA), which majority of patients are from the US. We also aimed to examine prognostic impact of additional genomic alterations in patients harboring EGFR mutations. Genomic alterations were determined in Japanese patients with lung adenocarcinoma (N = 100) using NGS-based sequencing of 415 known cancer genes, and correlated with clinical outcome...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29342127/enhancement-in-corneal-permeability-of-dissolved-carteolol-by-its-combination-with-magnesium-hydroxide-nanoparticles
#7
Noriaki Nagai, Sakie Yamaoka, Yuya Fukuoka, Miyu Ishii, Hiroko Otake, Kazutaka Kanai, Norio Okamoto, Yoshikazu Shimomura
We prepared magnesium hydroxide (MH) nanoparticles, and investigated their effect when combined with dissolved carteolol on the bioavailability and intraocular pressure (IOP)-reducing effect of carteolol. The carteolol was solved in saline containing additives (0.5% methylcellulose, 0.001% benzalkonium chloride, 0.5% mannitol; CRT-solution). MH nanoparticles were prepared by a bead mill method with additives. Then carteolol/MH microparticle and carteolol/MH nanoparticle fixed combinations (mCMFC and nCMFC) were prepared by mixing the CRT-solution and MH particles...
January 17, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29341424/fetal-ultrasonographic-findings-including-cerebral-hyperechogenicity-in-a-patient-with-non-lethal-form-of-raine-syndrome
#8
Kei Tamai, Katsuhiko Tada, Akihito Takeuchi, Makoto Nakamura, Hidenori Marunaka, Yosuke Washio, Hiroyuki Tanaka, Fuyuki Miya, Nobuhiko Okamoto, Misao Kageyama
Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non-lethal Raine syndrome who presented with characteristic cerebral hyperechogenicity and a hypoplastic nose by fetal ultrasonography. She was admitted to the NICU due to pyriform aperture stenosis. Craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata, and a mutation of FAM20C was identified...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341393/prognostic-and-therapeutic-factors-influencing-the-clinical-outcome-of-hepatoblastoma-after-liver-transplantation-a-single-institute-experience
#9
Katsutsugu Umeda, Hideaki Okajima, Koji Kawaguchi, Seishiro Nodomi, Satoshi Saida, Itaru Kato, Hidefumi Hiramatsu, Eri Ogawa, Atsushi Yoshizawa, Shinya Okamoto, Shinji Uemoto, Kenichiro Watanabe, Souichi Adachi
LT has contributed to an elevation in cure rates for patients with unresectable HB; however, patients with recurrent HB after LT have poor prognosis. To analyze the prognostic and therapeutic factors that influence the clinical outcome of patients with HB receiving LT, we retrospectively analyzed 24 patients with HB who underwent LT between 1997 and 2015. The 5-year OS rate of all patients was 69.6±9.7%. The 5-year OS rate of 11 patients receiving salvage LT for recurrent tumor after a primary resection was comparable to that of 13 patients receiving primary LT...
January 17, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29340846/novel-isoforms-of-n16-and-n19-families-implicated-for-the-nacreous-layer-formation-in-the-pearl-oyster-pinctada-fucata
#10
Fumito Ohmori, Shigeharu Kinoshita, Daisuke Funabara, Hiroki Koyama, Kiyohito Nagai, Kaoru Maeyama, Kikuhiko Okamoto, Shuichi Asakawa, Shugo Watabe
Although a wide variety of proteins and genes possibly related to the shell formation in bivalve have been identified, their functions have been only partially approved. We have recently performed deep sequencing of expressed sequence tags (ESTs) from the pearl oyster Pinctada fucata using a next-generation sequencer, identifying a dozen of novel gene candidates which are possibly associated with the nacreous layer formation. Among the ESTs, we focused on three novel isoforms (N16-6, N16-7, and N19-2) of N16 and N19 families with reference to five known genes in the families and determined the full-length cDNA sequences of these isoforms...
January 16, 2018: Marine Biotechnology
https://www.readbyqxmd.com/read/29340480/bone-repair-access-of-boneceramic%C3%A2-in-5-mm-defects-study-on-rat-calvaria
#11
André Luis da Silva Fabris, Leonardo Perez Faverani, Pedro Henrique Silva Gomes-Ferreira, Tárik Ocon Braga Polo, Joel Ferreira Santiago-Júnior, Roberta Okamoto
OBJECTIVE: The aim of this study was to evaluate the osteoconductive potential of BoneCeramic™ on bone healing in rat calvaria 5-mm defects. MATERIAL AND METHODS: A 5-mm calvaria bone defect was induced in three groups and the defect was not filled with biomaterial [Clot Group (CG)], autogenous bone (AG), or Bone Ceramic Group (BCG). Animals were euthanized after 14 or 28 days and the bone tissue within the central area of the bone defect was evaluated. Results were compared using ANOVA and Tukey test (p<0...
January 15, 2018: Journal of Applied Oral Science: Revista FOB
https://www.readbyqxmd.com/read/29339978/increase-of-somatic-cell-mutations-in-oxidative-damage-sensitive-drosophila
#12
Ryota Koike, Tomoyo Uchiyama, Sakae Arimoto-Kobayashi, Keinosuke Okamoto, Tomoe Negishi
Background: Oxidative damage is an important genotoxic source for almost all organisms. To efficiently detect mutations induced by oxidative damage, we previously developed a urate-null Drosophila strain. Using this Drosophila strain, we showed the mutagenic activity of environmental cigarette smoke (ECS) and the herbicide paraquat, which are known to produce reactive oxygen species (ROS). In the present study, we examined the mutagenic activities of carcinogenic mutagens that are considered to cause mutations by adduct formation, alkylation, or crosslinking of cellular DNA in the oxidative damage-sensitive Drosophila to evaluate how the oxidative damage induced by these mutagens is involved in causing mutations...
2018: Genes and Environment: the Official Journal of the Japanese Environmental Mutagen Society
https://www.readbyqxmd.com/read/29338781/correlation-between-disease-activity-and-serum-ferritin-in-clinically-amyopathic-dermatomyositis-with-rapidly-progressive-interstitial-lung-disease-a-case-report
#13
Kazuhiro Yamada, Kazuhisa Asai, Atsuko Okamoto, Tetsuya Watanabe, Hiroshi Kanazawa, Mai Ohata, Masahiko Ohsawa, Kazuto Hirata
BACKGROUND: Clinically amyopathic dermatomyositis with anti-Melanoma Differentiation-Associated gene 5 (MDA5) antibody often presents with severe interstitial lung disease. Although serum ferritin level is known to reflect interstitial lung disease activity, there are few case reports describing this association. CASE PRESENTATION: A 58-year-old man was referred to our outpatient clinic with a 3-week history of cough and respiratory distress. He had erythema over the V area of the neck and a Gottron's sign...
January 16, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29335827/satisfactory-arterial-repair-1%C3%A2-year-after-ultrathin-strut-biodegradable-polymer-sirolimus-eluting-stent-implantation-an-angioscopic-observation
#14
Takayuki Ishihara, Masaki Awata, Osamu Iida, Masashi Fujita, Masaharu Masuda, Shin Okamoto, Kiyonori Nanto, Takashi Kanda, Takuya Tsujimura, Masaaki Uematsu, Toshiaki Mano
The ultrathin strut biodegradable polymer sirolimus-eluting stent (Orsiro, O-SES) exhibits satisfactory clinical outcomes. However, no report to date has documented the intravascular status of artery repair after O-SES implantation. We examined 5 O-SES placed in 4 patients (age 65 ± 12 years, male 75%) presenting with stable angina pectoris due to de novo lesions in native coronary arteries. Coronary angioscopy was performed immediately after percutaneous coronary intervention and 1 year later. Angioscopic images were analyzed to determine the following: (1) dominant grade of neointimal coverage (NIC) over the stent; (2) maximum yellow plaque grade; and (3) existence of thrombus...
January 15, 2018: Cardiovascular Intervention and Therapeutics
https://www.readbyqxmd.com/read/29334656/activated-protein-c-suppresses-osteoclast-differentiation-via-endothelial-protein-c-receptor-protease-activated-receptor-1-sphingosine-1-phosphate-receptor-and-apolipoprotein-e-receptor-2
#15
Kakunoshin Yoshida, Nobuyuki Akita, Takayuki Okamoto, Kunihiro Asanuma, Atsumasa Uchida, Akihiro Sudo, Motomu Shimaoka, Koji Suzuki, Tatsuya Hayashi
INTRODUCTION: Bone remodeling relies on a delicate balance between formation and resorption of bone tissues, processes in which bone-forming osteoblasts and bone-resorbing osteoclasts play central roles. Recently, we reported that anticoagulant activated protein C (APC) promotes osteoblast proliferation, but the role of the blood coagulation system in bone remodeling remains unclear. In this study, to further elucidate the relationship between bone remodeling and blood coagulation, we investigated the effect of APC on osteoclast differentiation...
January 3, 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29332913/early-extubation-in-the-operating-room-after-congenital-open-heart-surgery
#16
Takuma Fukunishi, Norihiko Oka, Takeshi Yoshii, Kensuke Kobayashi, Nobuyuki Inoue, Tetsuya Horai, Tadashi Kitamura, Hirotsugu Okamoto, Kagami Miyaji
Early extubation in the operating room after congenital open-heart surgery is feasible, but extubation in the intensive care unit after the operation remains common practice at many institutions. The purpose of this study was to evaluate retrospectively the adequacy of our early-extubation strategy and exclusion criteria through analysis based on the Risk Adjustment in Congenital Heart Surgery method (RACHS-1).This retrospective analysis included 359 cases requiring cardiopulmonary bypass (male, 195; female, 164; weight > 3...
January 15, 2018: International Heart Journal
https://www.readbyqxmd.com/read/29330373/the-association-of-fit-fat-index-with-incident-diabetes-in-japanese-men-a-prospective-cohort-study
#17
Robert A Sloan, Susumu S Sawada, Lee I-Min, Yuko Gando, Ryoko Kawakami, Takashi Okamoto, Koji Tsukamoto, Motohiko Miyachi
Type 2 diabetes is increasing globally and in Asia. The purpose of this study was to examine the association of a fit-fat index (FFI) with diabetes incidence among Japanese men. In total 5,014 men aged 18-64 years old, who had an annual health check up with no history of major chronic disease at baseline from 2002 to 2009 were observed. CRF was estimated via cycle ergometry. Overall, 7.6% of the men developed diabetes. The mean follow-up period was 5.3 years. Hazard ratios, 95% confidence intervals and P trend for diabetes incidence were obtained using the Cox proportional hazards model while adjusting for confounding variables...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29328158/volume-holographic-spatial-mode-demultiplexer-with-a-dual-wavelength-method
#18
Shimpei Shimizu, Atsushi Okamoto, Fumiya Mizukawa, Kazuhisa Ogawa, Akihisa Tomita, Taketoshi Takahata, Satoshi Shinada, Naoya Wada
Volume holographic demultiplexers (VHDMs) provide spatial mode demultiplexing using simple optical systems. However, applying VHDM to practical optical communication systems is difficult, as typical holographic media have no sensitivity in the infrared region, which includes optical transmission bands. In this paper, we propose a VHDM scheme combined with a dual-wavelength method (DWM). Using the DWM, VHDMs are able to perform mode demultiplexing in the optical transmission bands. We experimentally demonstrated the basic operation of our proposal using experiments performed at an 850-nm wavelength...
January 10, 2018: Applied Optics
https://www.readbyqxmd.com/read/29327178/clinical-impact-and-risk-factors-for-skeletal-muscle-loss-after-complete-resection-of-early-non-small-cell-lung-cancer
#19
Shinkichi Takamori, Gouji Toyokawa, Tatsuro Okamoto, Mototsugu Shimokawa, Fumihiko Kinoshita, Yuka Kozuma, Taichi Matsubara, Naoki Haratake, Takaki Akamine, Kazuki Takada, Masakazu Katsura, Fumihiko Hirai, Fumihiro Shoji, Tetsuzo Tagawa, Yoshinao Oda, Hiroshi Honda, Yoshihiko Maehara
BACKGROUND: A relationship between sarcopenia diagnosed by skeletal muscle area (SMA) and poor prognosis in cancer patients has recently been reported. This study aimed to clarify the clinical significance of postoperatively decreased SMA in patients with early non-small cell lung cancer (NSCLC). METHODS: This study selected 101 patients with pathologic stage 1 NSCLC who had undergone pre- and postoperative (~ 1 year) computed tomography scans and lobectomy between 2005 and 2010 at Kyushu University Hospital...
January 11, 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29324572/epstein-barr-virus-ebv-induced-b-cell-lymphoproliferative-disorder-mimicking-the-recurrence-of-ebv-associated-hemophagocytic-lymphohistiocytosis
#20
Yuki Yatsushiro, Takuro Nishikawa, Aki Saito, Yozo Nakazawa, Ken-Ichi Imadome, Shunsuke Nakagawa, Yuichi Kodama, Yasuhiro Okamoto, Hirokazu Kanegane, Yoshifumi Kawano
We describe the case of a 23-month-old male infant with Epstein-Barr virus (EBV)-associated lymphoproliferative disorder, which mimicked the recurrence of EBV-associated hemophagocytic lymphohistiocytosis. Chemotherapy with dexamethasone, etoposide, and cyclosporine resolved fever, hepatosplenomegaly, and pancytopenia. However, on day 81 of illness, the patient developed similar symptoms. Plasma EBV-DNA levels markedly increased again, but no T-cell clonality was observed. B cells were identified to be infected with EBV...
January 10, 2018: Journal of Pediatric Hematology/oncology
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