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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/29346259/do-patients-supported-with-continuous-flow-left-ventricular-assist-device-cf-lvads-have-a-sufficient-risk-of-death-to-justify-a-priority-allocation-a-propensity-score-matched-analysis-of-patients-listed-in-unos-status-2
#2
Stefano Mastrobuoni, Angelo Maria Dell'Aquila, Olivier Van Caenegem, Alain Poncelet, Luc-Marie Jacquet, Josè Garcia
BACKGROUND: Outcomes of Continuous Flow Left Ventricular Assist Devices (CF-LVADs) as bridge to transplant have significantly improved. The question has arisen whether patients on CF-LVADs have an increased risk of death on the waiting list as to justify a priority allocation (status 1). The aim of this study was to compare the survival following implantation of CF-LVADs to the survival on the waiting list for patients initially listed in United Network for Organ Sharing (UNOS) status 2...
January 18, 2018: Transplantation
https://www.readbyqxmd.com/read/29344717/multiple-enlarged-aneurysms-in-primary-racemose-hemangioma-of-the-bronchial-artery-successful-prophylactic-transcatheter-arterial-embolization-using-n-butyl-2-cyanoacrylate-and-coils
#3
Atsushi Saiga, Toshihiko Sugiura, Takashi Higashide, Satoshi Tsuchiya, Akira Nishiyama, Yoshihiro Kubota, Takuro Horikoshi, Takashi Uno
An asymptomatic 48-year-old man presented with multiple aneurysms in a primary racemose hemangioma of the right bronchial artery. Bronchial arteriography revealed a tortuous artery with four fusiform aneurysms of varying sizes and aneurysmal dilatation with marked thrombus formation in the long segment of the distal portion. Because the tip of catheter could not pass beyond the aneurysmal dilatation, we performed balloon-occluded embolization using a mixture of N-butyl-2-cyanoacrylate (NBCA) and iodized oil...
January 17, 2018: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/29343873/-un-analisi-bibliometrica-della-produzione-scientifica-sui-farmaci-antipsicotici-atipici-in-italia
#4
Francisco López-Muñoz, Domenico De Berardis, Michele Fornaro, Federica Vellante, Massimo di Giannantonio, Francisco J Povedano-Montero, Maria Póveda Fernández-Martín, Gabriel Rubio, Cecilio Álamo
RIASSUNTO. Introduzione. Lo scopo è stato di condurre uno studio bibliometrico delle pubblicazioni scientifiche peer-reviewed sui farmaci antipsicotici atipici (AAD) in Italia. Metodi. Sono stati selezionati i documenti rilevanti dal database Scopus. Sono stati impiegati diversi indicatori bibliometrici di produzione e dispersione, inclusa la legge di Price sull'aumento delle letteratura scientifica e la legge di Bradford. Sono anche stati calcolati gli indici di partecipazione per quanto concerne i diversi stati...
November 2017: Rivista di Psichiatria
https://www.readbyqxmd.com/read/29340668/axillary-vs-sentinel-lymph-node-dissection-in-women-with-invasive-breast-cancer
#5
LETTER
Hajime Uno, Michael J Hassett, Lee-Jen Wei
No abstract text is available yet for this article.
January 16, 2018: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29337638/patients-with-advanced-melanoma-who-discontinued-treatment-with-nivolumab-and-ipilimumab-as-a-result-of-adverse-events-lived-significantly-longer-than-patients-who-continued-treatment
#6
Miki Horiguchi, Hajime Uno, Lee-Jen Wei
No abstract text is available yet for this article.
January 16, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29333071/factors-associated-with-waiting-time-on-the-liver-transplant-list-an-analysis-of-the-united-network-for-organ-sharing-unos-database
#7
Judy A Trieu, Mohammad Bilal, Bashar Hmoud
Background: Liver transplantation (LT) is an important treatment for acute liver failure and end-stage liver disease. In 2002, the model for end-stage liver disease (MELD) score was incorporated to prioritize patients awaiting LT. Although there is data on how the MELD score affects waiting times, there is a paucity of literature regarding other components. We aimed to evaluate the factors affecting LT waiting times in the United States. Methods: Using the United Network for Organ Sharing (UNOS) database, patients aged 12-75 years listed for LT over the years 2002-2015 were included...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29331874/thyroid-hormone-resuscitation-after-brain-death-in-potential-organ-donors-a-primer-for-neurocritical-care-providers-and-narrative-review-of-the-literature
#8
REVIEW
Ian A Buchanan, Vivek A Mehta
Solid organ transplantation has become a mainstay in the contemporary management of end-stage organ failures fueled by advances in immunosuppression, intensive care and surgical technology. Every year, a vast number of transplantable organs is lost on account of hemodynamic instability in potential brain-dead organ donors. Because of a growing organ shortage, measures that increase total donor supply pools are desperately needed. Thyroid hormone has been identified as an adjunctive therapy in donor management due to its potential for increasing organ supply and is currently endorsed by transplant organizations such as United Network for Organ Sharing (UNOS)...
January 8, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29329187/deceased-donor-organ-transplantation-performed-in-the-united-states-for-non-citizens-and-non-residents
#9
Francis L Delmonico, Susan Gunderson, Kishore R Iyer, Gabriel M Danovitch, Timothy L Pruett, Jorge D Reyes, Nancy L Ascher
Since 2012, the Organ Procurement and Transplantation Network (OPTN)/United Network for Organ Sharing (UNOS) has required transplant centers to record the citizenship and residency status of patients undergoing transplantation in the United States. This policy replaced the 5% threshold of the non-US citizen/non-U.S. residents (NC/NR) undergoing organ transplantation that could result in an audit of transplant center activity.We analyzed the frequency of NC/NR deceased donor organ transplants and wait list registrations at all US transplant centers using data provided by UNOS for that purpose to the UNOS Ad Hoc International Relations Committee...
January 11, 2018: Transplantation
https://www.readbyqxmd.com/read/29317596/rare-loss-of-function-mutations-in-n-methyl-d-aspartate-glutamate-receptors-and-their-contributions-to-schizophrenia-susceptibility
#10
Yanjie Yu, Yingni Lin, Yuto Takasaki, Chenyao Wang, Hiroki Kimura, Jingrui Xing, Kanako Ishizuka, Miho Toyama, Itaru Kushima, Daisuke Mori, Yuko Arioka, Yota Uno, Tomoko Shiino, Yukako Nakamura, Takashi Okada, Mako Morikawa, Masashi Ikeda, Nakao Iwata, Yuko Okahisa, Manabu Takaki, Shinji Sakamoto, Toshiyuki Someya, Jun Egawa, Masahide Usami, Masaki Kodaira, Akira Yoshimi, Tomoko Oya-Ito, Branko Aleksic, Kinji Ohno, Norio Ozaki
In schizophrenia (SCZ) and autism spectrum disorder (ASD), the dysregulation of glutamate transmission through N-methyl-D-aspartate receptors (NMDARs) has been implicated as a potential etiological mechanism. Previous studies have accumulated evidence supporting NMDAR-encoding genes' role in etiology of SCZ and ASD. We performed a screening study for exonic regions of GRIN1, GRIN2A, GRIN2C, GRIN2D, GRIN3A, and GRIN3B, which encode NMDAR subunits, in 562 participates (370 SCZ and 192 ASD). Forty rare variants were identified including 38 missense, 1 frameshift mutation in GRIN2C and 1 splice site mutation in GRIN2D...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29315417/interactive-or-static-reports-to-guide-clinical-interpretation-of-cancer-genomics
#11
Stacy W Gray, Jeffrey Gagan, Ethan Cerami, Angel M Cronin, Hajime Uno, Nelly Oliver, Carol Lowenstein, Ruth Lederman, Anna Revette, Aaron Suarez, Charlotte Lee, Jordan Bryan, Lynette Sholl, Eliezer M Van Allen
Objective: Misinterpretation of complex genomic data presents a major challenge in the implementation of precision oncology. We sought to determine whether interactive genomic reports with embedded clinician education and optimized data visualization improved genomic data interpretation. Materials and Methods: We conducted a randomized, vignette-based survey study to determine whether exposure to interactive reports for a somatic gene panel, as compared to static reports, improves physicians' genomic comprehension and report-related satisfaction (overall scores calculated across 3 vignettes, range 0-18 and 1-4, respectively, higher score corresponding with improved endpoints)...
January 5, 2018: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/29313098/decrease-of-bone-mineral-density-in-japanese-patients-with-non-metastatic-prostate-cancer-treated-with-androgen-deprivation-therapy
#12
Seiichi Kato, Makoto Kawase, Daiki Kato, Takashi Ishida, Masahiro Uno, Yoshinori Fujimoto, Takako Masue, Naruyasu Masue, Takashi Deguchi
The aim of this study was to conduct a cross-sectional survey of investigations related to the bone mineral density (BMD) of both non-metastatic prostate cancer (NMPC) patients who have not yet received androgen deprivation therapy (ADT) and patients receiving prolonged ADT in Japan. Japanese male patients with NMPC who received continuous ADT or who were planning to receive ADT were enrolled in this study. Lumbar spine and femoral neck BMD was measured using dual-energy X-ray absorptiometry (DEXA). To assess patient characteristics, we searched medical records and questionnaires to determine whether they had any factors that could possibly affect BMD...
January 8, 2018: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/29305854/astrocytes-in-primary-cultures-express-serine-racemase-synthesize-d-serine-and-acquire-a1-reactive-astrocyte-features
#13
Suyan Li, Yota Uno, Uwe Rudolph, Johanna Cobb, Jing Liu, Thea Anderson, Deborah Levy, Darrick T Balu, Joseph T Coyle
D-Serine is a co-agonist at forebrain N-methyl-D-aspartate receptors (NMDAR) and is synthesized by serine racemase (SR). Although D-serine and SR were originally reported to be localized to glia, recent studies have provided compelling evidence that under healthy physiologic conditions both are localized primarily in neurons. However, in pathologic conditions, reactive astrocytes can also express SR and synthesize D-serine. Since cultured astrocytes exhibit features of reactive astrocytes, we have characterized D-serine synthesis and the expression of enzymes involved in its disposition in primary glial cultures...
January 3, 2018: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29297902/-la-combinazione-di-gemcitabina-e-oxaliplatino-gemox-nel-trattamento-del-carcinoma-pancreatico-in-fase-avanzata-di-malattia-le-notizie-sulla-mia-morte-sono-state-esagerate
#14
Jacopo Giuliani, Andrea Bonetti
Riassunto. L'analisi è stata condotta al fine di valutare l'effetto sia sulla sopravvivenza globale (OS) sia sulla sopravvivenza libera da progressione di malattia (PFS) della chemioterapia di combinazione in prima linea per il carcinoma pancreatico in fase avanzata di malattia. La presente analisi è limitata agli studi randomizzati controllati (RCT) di fase III. Successivamente è stata applicata la European Society for Medical Oncology Magnitude of Clinical Benefit Scale (ESMO-MCBS) agli RCT di fase III analizzati per ricavare uno score relativo all'entità del beneficio clinico ottenuto per ciascun RCT...
December 2017: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/29290527/mutant-selection-window-of-four-quinolone-antibiotics-against-clinical-isolates-of-streptococcus-pneumoniae-haemophilus-influenzae-and-moraxella-catarrhalis
#15
Hajime Nakai, Takumi Sato, Takashi Uno, Emiko Furukawa, Masato Kawamura, Hiroshi Takahashi, Akira Watanabe, Shigeru Fujimura
Community-acquired pneumonia and otitis media are caused by several bacterial species, including Streptococcus pneumoniae, Haemophilus influenzae, and Moraxella catarrhalis. For the treatment of these diseases, various quinolones are frequently used. We determined the mutant prevention concentration (MPC) of four quinolones, levofloxacin, sitafloxacin, tosufloxacin, and garenoxacin, using 92 clinical isolates and evaluated each mutant selection window (MSW). Furthermore, the DNA sequence of the quinolone resistance-determining region (QRDR) for the resistant mutant selected based on the MSW was determined...
December 29, 2017: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/29289181/note-simple-100-hz-n2-laser-with-longitudinal-discharge-tube-and-high-voltage-power-supply-using-neon-sign-transformer
#16
K Uno, T Jitsuno
We developed a longitudinally excited N2 laser with a simple driver circuit and a simple power supply. The N2 laser consisted of a 20 cm-long glass tube with an inner diameter of 2.5 mm, a normal stable resonator formed by flat mirrors, a variable transformer, a neon sign transformer, a spark gap, and a 200 pF capacitance. The N2 laser produced a laser pulse with an energy of 379 nJ and a pulse width of 7.5 ns at a repetition rate of 100 Hz. The laser beam was circular and had a Gaussian profile with a correlation factor of 0...
December 2017: Review of Scientific Instruments
https://www.readbyqxmd.com/read/29277691/genetic-polymorphisms-of-drug-metabolizing-cytochrome-p450-enzymes-in-cynomolgus-and-rhesus-monkeys-and-common-marmosets-in-preclinical-studies-for-humans
#17
REVIEW
Yasuhiro Uno, Shotaro Uehara, Hiroshi Yamazaki
Cynomolgus monkeys (Macaca fascicularis, Old World Monkeys) and common marmosets (Callithrix jacchus, New World Monkeys) have been widely, and expectedly, used as non-human primate models in drug development studies. Major drug-metabolizing cytochrome P450 (P450) enzymes information is now available that supports these primate species as animal models, and it is established that multiple forms of cynomolgus monkey and common marmoset P450 enzymes have generally similar substrate recognition functionality to human P450 enzymes...
December 22, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29262390/-a-case-of-an-orbital-angioleiomyoma
#18
Kohei Sato, Yukari Ogawa, Keita Kinoshita, Hiroki Takai, Satoshi Hirai, Manabu Ishihara, Keijiro Hara, Hiroyuki Toi, Shunji Matsubara, Masaaki Uno
A 70-year-old woman presented with a 4-year history of painless conjunctival congestion and proptosis of the right eye. Computed tomography and magnetic resonance imaging revealed a 48-mm lesion in the right medial orbit. As the symptoms progressed, the tumor was resected by performing fronto-orbital craniotomy. Histopathological examination revealed a vascular tumor surrounded by smooth muscle fibers and immunohistochemistry demonstrated tumor positivity for smooth muscle actin and desmin. The tumor was diagnosed as an angioleiomyoma, and no recurrence has been observed as of 5 years postoperatively...
December 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/29258740/performance-evaluation-of-bd-phoenix%C3%A2-an-automated-microbiology-system-for-the-screening-of-imp-producing-enterobacteriaceae
#19
Hiromi Yamakawa, Kosuke Kosai, Yasuhide Kawamoto, Norihiko Akamatsu, Junichi Matsuda, Norihito Kaku, Naoki Uno, Yoshitomo Morinaga, Hiroo Hasegawa, Katsunori Yanagihara
BD Phoenix™ is an automated bacterial identification and susceptibility testing system. Here, its performance in screening IMP-producing Enterobacteriaceae was evaluated. The system identified 97.8% of IMP producers as being nonsusceptible to imipenem or meropenem, which was higher than that identified by the broth microdilution method (91.3%, imipenem; 41.3%, meropenem).
December 16, 2017: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/29249759/-a-case-of-a-7-year-old-girl-with-anaphylaxis-caused-by-pectin-in-albedo-of-citrus-unshiu-but-not-by-the-fruit-itself
#20
Hiroshi Uno, Hirokazu Sekimoto, Tetsuro Kitamura
Pectin is used in several foods as an additive and a thickner. But some cases of anaphylaxis have been reported. Most of these are induced by occasional exposures; however, no cases of anaphylaxis after eating a Citrus unshiu, the albedo of which is rich in pectin, have been reported.A 7-year-old girl developed barking cough and pruritus approximately two hours after eating a frozen Citrus unshiu. She had a history of anaphylaxis induced by consuming cashew nuts. Skin testing and basophil activation tests were performed using a commercially available pectin product...
2017: Arerugī, [Allergy]
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