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https://www.readbyqxmd.com/read/27919910/ph-like-acute-lymphoblastic-leukemia-a-high-risk-subtype-in-adults
#1
Nitin Jain, Kathryn G Roberts, Elias Jabbour, Keyur Patel, Agda Karina Eterovic, Ken Chen, Patrick Zweidler-McKay, Xinyan Lu, Gloria Fawcett, Sa A Wang, Sergej Konoplev, Richard C Harvey, I-Ming Chen, Debbie Payne-Turner, Marcus Valentine, Deborah Thomas, Guillermo Garcia-Manero, Farhad Ravandi, Jorge Cortes, Steven Kornblau, Susan O'Brien, Sherry Pierce, Jeffrey Jorgensen, Kenna R Mills Shaw, Cheryl L Willman, Charles G Mullighan, Hagop Kantarjian, Marina Konopleva
Ph-like acute lymphoblastic leukemia (ALL) is a high-risk subtype of ALL in children. There are limited and conflicted data on the incidence and prognosis of Ph-like ALL in adults. Patients with newly-diagnosed B-ALL who received frontline chemotherapy at MD Anderson Cancer Center underwent gene expression profiling of leukemic cells to identify Ph-like ALL. Patients received hyper-CVAD (80%) or augmented-BFM (20%) regimen. Of 148 patients, 33.1% had Ph-like, 31.1% had Ph+, and 35.8% had other B-ALL subtypes (B-other)...
December 5, 2016: Blood
https://www.readbyqxmd.com/read/27914724/medical-students-understanding-of-oral-and-maxillofacial-surgery-an-irish-perspective
#2
P G C Kielty, B R O'Connor, C J Cotter, A M C Goodson, K F B Payne, A Tahim
Oral and Maxillofacial Surgery (OMFS) remains an enigmatic specialty in Irish medicine and many students are unaware of its scope and the unique career pathway involved. We performed a multicentre cross-sectional study to identify their ability to identify the requirements for entry to specialty training year 3 (ST3) in OMFS, to assess their awareness of OMFS surgeons, and their general awareness of, and exposure to, the specialty. Data were collected through an electronic questionnaire. Participants were asked to select the most suitable surgical specialty to treat a number of common conditions in the head and neck, and to choose the requirements they deemed essential for specialist training...
November 30, 2016: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/27906477/blood-pressure-measurements-in-780-apparently-healthy-cats
#3
J R Payne, D C Brodbelt, V Luis Fuentes
BACKGROUND: Mean systolic blood pressure in apparently healthy cats has been reported as approximately 125 mmHg using direct assessment, but there is greater variability in reported values using indirect assessment. Increasing age and the white-coat effect are associated with increased systolic blood pressure. HYPOTHESIS/OBJECTIVES: To report Doppler-derived blood pressure measurements from a large population of apparently healthy cats and to assess epidemiologic factors associated with recorded blood pressures...
December 1, 2016: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/27902870/a-thioacetal-photocage-designed-for-dual-release-application-in-the-quantitation-of-therapeutic-release-by-synchronous-reporter-decaging
#4
Pamela T Wong, Shengzhuang Tang, Jayme Cannon, Jhindan Mukherjee, Danielle Isham, Kristina Gam, Michael Payne, Sean A Yanik, James R Baker, Seok Ki Choi
Despite the immense potential of existing photocaging technology, its application is limited by the paucity of advanced caging tools. Here, we report on the design of a novel thioacetal ortho-nitrobenzaldehyde (TNB) dual arm photocage that enabled control of the simultaneous release of two payloads linked to a single TNB unit. By using this cage, which was prepared in a single step from commercial 6-nitroverataldehyde, three drug-fluorophore conjugates were synthesized: Taxol-TNB-fluorescein, Taxol-TNB-coumarin, and doxorubicin-TNB-coumarin, and long-wavelength UVA light-triggered release experiments demonstrated that dual payload release occurred with rapid decay kinetics for each conjugate...
November 7, 2016: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/27898886/effect-of-feed-restriction-and-initial-body-weight-on-growth-performance-body-composition-and-hormones-in-male-pigs-immunized-against-gonadotropin-releasing-factor
#5
K L Moore, B P Mullan, J C Kim, H G Payne, F R Dunshea
Pigs immunized against gonadotropin-releasing factor (GnRF) have increased carcass fatness compared to entire males; however, the timing of this increase in fatness after the second immunization against GnRF has not been determined. An experiment was conducted to identify and compare the growth performance, body composition, and physiological changes in immunocastrated males (IC males) at different BW and feeding levels. A total of 64 pigs were used in a 2 × 2 × 2 factorial experiment with the treatments being 1) sex (entire males or IC males), 2) initial BW (45...
September 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27897016/open-data-for-discovery-science
#6
Philip R O Payne, Kun Huang, Nigam H Shah, Jessica Tenenbaum
The modern healthcare and life sciences ecosystem is moving towards an increasingly open and data-centric approach to discovery science. This evolving paradigm is predicated on a complex set of information needs related to our collective ability to share, discover, reuse, integrate, and analyze open biological, clinical, and population level data resources of varying composition, granularity, and syntactic or semantic consistency. Such an evolution is further impacted by a concomitant growth in the size of data sets that can and should be employed for both hypothesis discovery and testing...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27890147/using-a-bespoke-situated-digital-kiosk-to-encourage-user-participation-in-healthcare-environment-design
#7
J Mackrill, P Marshall, S R Payne, E Dimitrokali, R Cain
Involving users through participation in healthcare service and environment design is growing. Existing approaches and toolkits for practitioners and researchers are often paper based involving workshops and other more traditional design approaches such as paper prototyping. The advent of digital technology provides the opportunity to explore new platforms for user participation. This paper presents results from three studies that used a bespoke situated user participation digital kiosk, engaging 33 users in investigating healthcare environment design...
March 2017: Applied Ergonomics
https://www.readbyqxmd.com/read/27870571/high-frequency-and-poor-outcome-of-philadelphia-chromosome-like-acute-lymphoblastic-leukemia-in-adults
#8
Kathryn G Roberts, Zhaohui Gu, Debbie Payne-Turner, Kelly McCastlain, Richard C Harvey, I-Ming Chen, Deqing Pei, Ilaria Iacobucci, Marcus Valentine, Stanley B Pounds, Lei Shi, Yongjin Li, Jinghui Zhang, Cheng Cheng, Alessandro Rambaldi, Manuela Tosi, Orietta Spinelli, Jerald P Radich, Mark D Minden, Jacob M Rowe, Selina Luger, Mark R Litzow, Martin S Tallman, Peter H Wiernik, Ravi Bhatia, Ibrahim Aldoss, Jessica Kohlschmidt, Krzysztof Mrózek, Guido Marcucci, Clara D Bloomfield, Wendy Stock, Stephen Kornblau, Hagop M Kantarjian, Marina Konopleva, Elisabeth Paietta, Cheryl L Willman, Charles G Mullighan
Purpose Philadelphia chromosome (Ph) -like acute lymphoblastic leukemia (ALL) is a high-risk subtype of childhood ALL characterized by kinase-activating alterations that are amenable to treatment with tyrosine kinase inhibitors. We sought to define the prevalence and genomic landscape of Ph-like ALL in adults and assess response to conventional chemotherapy. Patients and Methods The frequency of Ph-like ALL was assessed by gene expression profiling of 798 patients with B-cell ALL age 21 to 86 years. Event-free survival and overall survival were determined for Ph-like ALL versus non-Ph-like ALL patients...
November 21, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/27868070/adaptation-and-feasibility-study-of-a-digital-health-program-to-prevent-diabetes-among-low-income-patients-results-from-a-partnership-between-a-digital-health-company-and-an-academic-research-team
#9
Valy Fontil, Kelly McDermott, Lina Tieu, Christina Rios, Eliza Gibson, Cynthia Castro Sweet, Mike Payne, Courtney R Lyles
Background. The feasibility of digital health programs to prevent and manage diabetes in low-income patients has not been adequately explored. Methods. Researchers collaborated with a digital health company to adapt a diabetes prevention program for low-income prediabetes patients at a large safety net clinic. We conducted focus groups to assess patient perspectives, revised lessons for improved readability and cultural relevance to low-income and Hispanic patients, conducted a feasibility study of the adapted program in English and Spanish speaking cohorts, and implemented real-time adaptations to the program for commercial use and for a larger trial of in multiple safety net clinics...
2016: Journal of Diabetes Research
https://www.readbyqxmd.com/read/27866476/the-impact-of-education-country-race-and-ethnicity-on-the-self-report-of-postpartum-depression-using-the-edinburgh-postnatal-depression-scale
#10
A Di Florio, K Putnam, M Altemus, G Apter, V Bergink, J Bilszta, R Brock, A Buist, K M Deligiannidis, E Devouche, C N Epperson, C Guille, D Kim, P Lichtenstein, P K E Magnusson, P Martinez, T Munk-Olsen, J Newport, J Payne, B W Penninx, M O'Hara, E Robertson-Blackmore, S J Roza, K M Sharkey, S Stuart, H Tiemeier, A Viktorin, P J Schmidt, P F Sullivan, Z N Stowe, K L Wisner, I Jones, D R Rubinow, S Meltzer-Brody
BACKGROUND: Universal screening for postpartum depression is recommended in many countries. Knowledge of whether the disclosure of depressive symptoms in the postpartum period differs across cultures could improve detection and provide new insights into the pathogenesis. Moreover, it is a necessary step to evaluate the universal use of screening instruments in research and clinical practice. In the current study we sought to assess whether the Edinburgh Postnatal Depression Scale (EPDS), the most widely used screening tool for postpartum depression, measures the same underlying construct across cultural groups in a large international dataset...
November 21, 2016: Psychological Medicine
https://www.readbyqxmd.com/read/27862576/foetal-ureaplasma-parvum-bacteraemia-as-a-function-of-gestation-dependent-complement-insufficiency-evidence-from-a-sheep-model-of-pregnancy
#11
Matthew W Kemp, Shatha Ahmed, Michael L Beeton, Matthew S Payne, Masatoshi Saito, Yuichiro Miura, Haruo Usuda, Suhas G Kallapur, Boris W Kramer, Sarah J Stock, Alan H Jobe, John P Newnham, Owen B Spiller
PROBLEM: Complement is a central defence against sepsis, and increasing complement insufficiency in neonates of greater prematurity may predispose to increased sepsis. Ureaplasma spp. are the most frequently cultured bacteria from preterm blood samples. METHOD OF STUDY: A sheep model of intrauterine Ureaplasma parvum infection was used to examine in vivo Ureaplasma bacteraemia at early and late gestational ages. Complement function and Ureaplasma killing assays were used to determine the correlation between complement potency and bactericidal activity of sera ex vivo...
November 14, 2016: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/27858422/measurement-of-coherent-%C3%AF-production-in-low-energy-neutrino-carbon-scattering
#12
K Abe, C Andreopoulos, M Antonova, S Aoki, A Ariga, S Assylbekov, D Autiero, S Ban, M Barbi, G J Barker, G Barr, P Bartet-Friburg, M Batkiewicz, F Bay, V Berardi, S Berkman, S Bhadra, A Blondel, S Bolognesi, S Bordoni, S B Boyd, D Brailsford, A Bravar, C Bronner, M Buizza Avanzini, R G Calland, T Campbell, S Cao, J Caravaca Rodríguez, S L Cartwright, R Castillo, M G Catanesi, A Cervera, D Cherdack, N Chikuma, G Christodoulou, A Clifton, J Coleman, G Collazuol, D Coplowe, L Cremonesi, A Dabrowska, G De Rosa, T Dealtry, P F Denner, S R Dennis, C Densham, D Dewhurst, F Di Lodovico, S Di Luise, S Dolan, O Drapier, K E Duffy, J Dumarchez, S Dytman, M Dziewiecki, S Emery-Schrenk, A Ereditato, T Feusels, A J Finch, G A Fiorentini, M Friend, Y Fujii, D Fukuda, Y Fukuda, A P Furmanski, V Galymov, A Garcia, S G Giffin, C Giganti, F Gizzarelli, M Gonin, N Grant, D R Hadley, L Haegel, M D Haigh, P Hamilton, D Hansen, J Harada, T Hara, M Hartz, T Hasegawa, N C Hastings, T Hayashino, Y Hayato, R L Helmer, M Hierholzer, A Hillairet, A Himmel, T Hiraki, S Hirota, M Hogan, J Holeczek, S Horikawa, F Hosomi, K Huang, A K Ichikawa, K Ieki, M Ikeda, J Imber, J Insler, R A Intonti, T J Irvine, T Ishida, T Ishii, E Iwai, K Iwamoto, A Izmaylov, A Jacob, B Jamieson, M Jiang, S Johnson, J H Jo, P Jonsson, C K Jung, M Kabirnezhad, A C Kaboth, T Kajita, H Kakuno, J Kameda, D Karlen, I Karpikov, T Katori, E Kearns, M Khabibullin, A Khotjantsev, D Kielczewska, T Kikawa, H Kim, J Kim, S King, J Kisiel, A Knight, A Knox, T Kobayashi, L Koch, T Koga, A Konaka, K Kondo, A Kopylov, L L Kormos, A Korzenev, Y Koshio, W Kropp, Y Kudenko, R Kurjata, T Kutter, J Lagoda, I Lamont, E Larkin, P Lasorak, M Laveder, M Lawe, M Lazos, T Lindner, Z J Liptak, R P Litchfield, X Li, A Longhin, J P Lopez, L Ludovici, X Lu, L Magaletti, K Mahn, M Malek, S Manly, A D Marino, J Marteau, J F Martin, P Martins, S Martynenko, T Maruyama, V Matveev, K Mavrokoridis, W Y Ma, E Mazzucato, M McCarthy, N McCauley, K S McFarland, C McGrew, A Mefodiev, C Metelko, M Mezzetto, P Mijakowski, A Minamino, O Mineev, S Mine, A Missert, M Miura, S Moriyama, Th A Mueller, S Murphy, J Myslik, T Nakadaira, M Nakahata, K G Nakamura, K Nakamura, K D Nakamura, S Nakayama, T Nakaya, K Nakayoshi, C Nantais, C Nielsen, M Nirkko, K Nishikawa, Y Nishimura, P Novella, J Nowak, H M O'Keeffe, R Ohta, K Okumura, T Okusawa, W Oryszczak, S M Oser, T Ovsyannikova, R A Owen, Y Oyama, V Palladino, J L Palomino, V Paolone, N D Patel, M Pavin, D Payne, J D Perkin, Y Petrov, L Pickard, L Pickering, E S Pinzon Guerra, C Pistillo, B Popov, M Posiadala-Zezula, J-M Poutissou, R Poutissou, P Przewlocki, B Quilain, T Radermacher, E Radicioni, P N Ratoff, M Ravonel, M A M Rayner, A Redij, E Reinherz-Aronis, C Riccio, P Rojas, E Rondio, S Roth, A Rubbia, A Rychter, R Sacco, K Sakashita, F Sánchez, F Sato, E Scantamburlo, K Scholberg, S Schoppmann, J Schwehr, M Scott, Y Seiya, T Sekiguchi, H Sekiya, D Sgalaberna, R Shah, A Shaikhiev, F Shaker, D Shaw, M Shiozawa, T Shirahige, S Short, M Smy, J T Sobczyk, H Sobel, M Sorel, L Southwell, P Stamoulis, J Steinmann, T Stewart, P Stowell, Y Suda, S Suvorov, A Suzuki, K Suzuki, S Y Suzuki, Y Suzuki, R Tacik, M Tada, S Takahashi, A Takeda, Y Takeuchi, H K Tanaka, H A Tanaka, D Terhorst, R Terri, T Thakore, L F Thompson, S Tobayama, W Toki, T Tomura, C Touramanis, T Tsukamoto, M Tzanov, Y Uchida, A Vacheret, M Vagins, Z Vallari, G Vasseur, T Wachala, K Wakamatsu, C W Walter, D Wark, W Warzycha, M O Wascko, A Weber, R Wendell, R J Wilkes, M J Wilking, C Wilkinson, J R Wilson, R J Wilson, Y Yamada, K Yamamoto, M Yamamoto, C Yanagisawa, T Yano, S Yen, N Yershov, M Yokoyama, J Yoo, K Yoshida, T Yuan, M Yu, A Zalewska, J Zalipska, L Zambelli, K Zaremba, M Ziembicki, E D Zimmerman, M Zito, J Żmuda
: We report the first measurement of the flux-averaged cross section for charged current coherent π^{+} production on carbon for neutrino energies less than 1.5 GeV, and with a restriction on the final state phase space volume in the T2K near detector, ND280. Comparisons are made with predictions from the Rein-Sehgal coherent production model and the model by Alvarez-Ruso et al., the latter representing the first implementation of an instance of the new class of microscopic coherent models in a neutrino interaction Monte Carlo event generator...
November 4, 2016: Physical Review Letters
https://www.readbyqxmd.com/read/27837257/enhanced-anti-tumour-activity-of-the-combination-of-the-novel-mek-inhibitor-wx-554-and-the-novel-pi3k-inhibitor-wx-037
#13
Emma J Haagensen, Huw D Thomas, Wolfgang A Schmalix, Andrew C Payne, Lara Kevorkian, Rodger A Allen, Paul Bevan, Ross J Maxwell, David R Newell
PURPOSE: Tumours frequently have defects in multiple oncogenic pathways, e.g. MAPK and PI3K signalling pathways, and combinations of targeted therapies may be required for optimal activity. This study evaluated the novel MEK inhibitor WX-554 and the novel PI3K inhibitor WX-037, as single agents and in combination, in colorectal carcinoma cell lines and tumour xenograft-bearing mice. METHODS: In vitro growth inhibition, survival and signal transduction were measured using the Sulforhodamine B, clonogenic and Western blotting assays, respectively, in HCT116 and HT29 cell lines...
December 2016: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/27825373/trends-in-body-image-of-adolescent-females-in-metropolitan-and-non-metropolitan-regions-a-longitudinal-study
#14
M Craike, J A Young, C M Symons, M D Pain, J T Harvey, R M Eime, W R Payne
BACKGROUND: Body dissatisfaction is associated with a range of adverse outcomes, including impaired psychological health, low physical activity and disordered eating. This longitudinal study used the Factors Influencing Transitions in Girls' Active Leisure and Sport (FITGALS) dataset to examine trends in body image of adolescent females. Specifically, the study examined satisfaction with body size, physical appearance and dieting behaviour for two cohorts at transitional life phases in two geographic regions longitudinally over a 3-year period...
November 8, 2016: BMC Public Health
https://www.readbyqxmd.com/read/27821399/examination-of-medication-clinical-decision-support-using-bayes-theorem
#15
Thomas H Payne, Bimal R Desai
No abstract text is available yet for this article.
November 15, 2016: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/27819520/purpose-in-life-and-cognitive-functioning-in-adulthood
#16
Nathan A Lewis, Nicholas A Turiano, Brennan R Payne, Patrick L Hill
With an increasingly aging population, more work is needed to identify factors which may promote the maintenance of normal cognitive functioning. The current study tested the concurrent association between sense of purpose in life and the cognitive variables of episodic memory, executive functioning, and composite cognitive functioning in adults (N = 3489, Mage = 56.3 years, SD = 12.27, Range = 32-84 years) from the Midlife in the United States study (MIDUS). Correlational analyses suggested that purpose in life was associated with higher scores for memory, executive functioning, and overall cognition...
November 7, 2016: Neuropsychology, Development, and Cognition. Section B, Aging, Neuropsychology and Cognition
https://www.readbyqxmd.com/read/27803104/trametinib-drives-t-cell-dependent-control-of-kras-mutated-tumors-by-inhibiting-pathological-myelopoiesis
#17
Michael J Allegrezza, Melanie R Rutkowski, Tom L Stephen, Nikolaos Svoronos, Alfredo Perales-Puchalt, Jenny M Nguyen, Kyle K Payne, Sunil Singhal, Evgeniy B Eruslanov, Julia Tchou, Jose R Conejo-Garcia
Targeted therapies elicit seemingly paradoxical and poorly understood effects on tumor immunity. Here, we show that the MEK inhibitor trametinib abrogates cytokine-driven expansion of monocytic myeloid-derived suppressor cells (mMDSC) from human or mouse myeloid progenitors. MEK inhibition also reduced the production of the mMDSC chemotactic factor osteopontin by tumor cells. Together, these effects reduced mMDSC accumulation in tumor-bearing hosts, limiting the outgrowth of KRas-driven breast tumors, even though trametinib largely failed to directly inhibit tumor cell proliferation...
November 1, 2016: Cancer Research
https://www.readbyqxmd.com/read/27799510/validation-of-the-kattan-nomogram-for-prostate-cancer-recurrence-after-radical-prostatectomy
#18
Rochelle Payne Ondracek, Michael W Kattan, Christine Murekeyisoni, Changhong Yu, Eric C Kauffman, James R Marshall, James L Mohler
BACKGROUND: The Kattan postoperative radical prostatectomy (RP) nomogram is used to predict biochemical recurrence-free progression (BCRFP) after RP. However, external validation among contemporary patients using modern outcome definitions is limited. METHODS: A total of 1,931 patients who underwent RP at Roswell Park Cancer Institute (RPCI) between 1993 and 2014 (median follow-up, 47 months; range, 0-244 months) were assessed for NCCN-defined biochemical failure (BF) and RPCI-defined treatment failure (TF)...
November 2016: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/27798405/possibility-and-challenges-of-conversion-of-current-virus-species-names-to-linnaean-binomials
#19
Thomas S Postler, Anna N Clawson, Gaya K Amarasinghe, Christopher F Basler, Sina Bavari, Mária Benkő, Kim R Blasdell, Thomas Briese, Michael J Buchmeier, Alexander Bukreyev, Charles H Calisher, Kartik Chandran, Rémi Charrel, Christopher S Clegg, Peter L Collins, Juan Carlos de la Torre, Joseph L DeRisi, Ralf G Dietzgen, Olga Dolnik, Ralf Dürrwald, John M Dye, Andrew J Easton, Sébastian Emonet, Pierre Formenty, Ron A M Fouchier, Elodie Ghedin, Jean-Paul Gonzalez, Balázs Harrach, Roger Hewson, Masayuki Horie, Dàohóng Jiāng, Gary Kobinger, Hideki Kondo, Andrew M Kropinski, Mart Krupovic, Gael Kurath, Robert A Lamb, Eric M Leroy, Igor S Lukashevich, Andrea Maisner, Arcady R Mushegian, Sergey V Netesov, Norbert Nowotny, Jean L Patterson, Susan L Payne, Janusz T Paweska, Clarence J Peters, Sheli R Radoshitzky, Bertus K Rima, Victor Romanowski, Dennis Rubbenstroth, Sead Sabanadzovic, Hélène Sanfaçon, Maria S Salvato, Martin Schwemmle, Sophie J Smither, Mark D Stenglein, David M Stone, Ayato Takada, Robert B Tesh, Keizo Tomonaga, Noël Tordo, Jonathan S Towner, Nikos Vasilakis, Viktor E Volchkov, Victoria Wahl-Jensen, Peter J Walker, Lin-Fa Wang, Arvind Varsani, Anna E Whitfield, F Murilo Zerbini, Jens H Kuhn
Botanical, mycological, zoological, and prokaryotic species names follow the Linnaean format, consisting of an italicized Latinized binomen with a capitalized genus name and a lower-case species epithet (e.g., Homo sapiens). Virus species names, however, do not follow a uniform format, and even when binomial, are not Linnaean in style. In this thought exercise, we attempted to convert all currently official names of species included in the virus family Arenaviridae and the virus order Mononegavirales to Linnaean binomials, and to identify and address associated challenges and concerns...
October 22, 2016: Systematic Biology
https://www.readbyqxmd.com/read/27789416/compound-heterozygous-variants-in-nbas-as-a-cause-of-atypical-osteogenesis-imperfecta
#20
M Balasubramanian, J Hurst, S Brown, N J Bishop, P Arundel, C DeVile, R C Pollitt, L Crooks, D Longman, J F Caceres, F Shackley, S Connolly, J H Payne, A C Offiah, D Hughes, M J Parker, W Hide, T M Skerry
BACKGROUND: Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1 in 15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcome and patient benefit. REPORT: Whole exome sequencing in patients with OI identified, in two patients with a multi-system phenotype, compound heterozygous variants in NBAS (neuroblastoma amplified sequence)...
January 2017: Bone
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