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https://www.readbyqxmd.com/read/28630177/integrated-genome-and-transcriptome-sequencing-identifies-a-noncoding-mutation-in-the-genome-replication-factor-donson-as-the-cause-of-microcephaly-micromelia-syndrome
#1
Gilad D Evrony, Dwight R Cordero, Jun Shen, Jennifer N Partlow, Timothy W Yu, Rachel E Rodin, R Sean Hill, Michael E Coulter, Anh-Thu N Lam, Divya Jayaraman, Dianne Gerrelli, Diana G Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, M Jocelyne Martel, Betty Spooner, Steven C Ryu, Princess C Elhosary, Jillian M Richardson, Danielle Tierney, Christopher A Robinson, Rajni Chibbar, Dana Diudea, Rebecca Folkerth, Sheldon Wiebe, A James Barkovich, Ganeshwaran H Mochida, James Irvine, Edmond G Lemire, Patricia Blakley, Christopher A Walsh
While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of high-throughput, unbiased approaches for functional assessment of most noncoding variants has bottlenecked gene discovery. We report the integration of transcriptome sequencing (RNA-seq), which surveys all mRNAs to reveal functional impacts of variants at the transcription level, into the gene discovery framework for a unique human disease, microcephaly-micromelia syndrome (MMS)...
June 19, 2017: Genome Research
https://www.readbyqxmd.com/read/28622406/building-bridges-to-address-health-disparities-in-puerto-rico-the-salud-para-pi%C3%A3-ones-project
#2
Enid J García-Rivera, Princess Pacheco, Marielis Colón, Mary Helen Mays, Maricruz Rivera, Verónica Munet-Díaz, María Del R González, María Rodríguez, Rebecca Rodríguez, Astrid Morales
Over the past several decades, Puerto Ricans have faced increased health threats from chronic diseases, particularly diabetes and hypertension. The patient-provider relationship is the main platform for individual disease management, whereas the community, as an agent of change for the community's health status, has been limited in its support of individual health. Likewise, traditional research approaches within communities have placed academic researchers at the center of the process, considering their knowledge was of greater value than that of the community...
June 2017: Puerto Rico Health Sciences Journal
https://www.readbyqxmd.com/read/28600529/synthesis-chemical-characterization-and-multiscale-biological-evaluation-of-a-dimeric-crgd-peptide-for-targeted-imaging-of-%C3%AE-v-%C3%AE-3-integrin-activity
#3
Jamila Hedhli, Andrzej Czerwinski, Matthew Schuelke, Agata Płoska, Paweł Sowinski, Lukas La Hood, Spencer B Mamer, John A Cole, Paulina Czaplewska, Maciej Banach, Iwona T Dobrucki, Leszek Kalinowski, Princess Imoukhuede, Lawrence W Dobrucki
Cyclic peptides containing the Arg-Gly-Asp (RGD) sequence have been shown to specifically bind the angiogenesis biomarker α V β 3 integrin. We report the synthesis, chemical characterization, and biological evaluation of two novel dimeric cyclic RGD-based molecular probes for the targeted imaging of α V β 3 activity (a radiolabeled version, (64)Cu-NOTA-PEG4-cRGD2, for PET imaging, and a fluorescent version, FITC-PEG4-cRGD2, for in vitro work). We investigated the performance of this probe at the receptor, cell, organ, and whole-body levels, including its use to detect diabetes associated impairment of ischemia-induced myocardial angiogenesis...
June 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28589804/a-royal-turning-point
#4
Ian Hulatt
In disclosing the mental distress he experienced after the death of his mother Princess Diana, Prince Harry has joined a growing number of famous people who have felt enabled to make such issues public.
June 7, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28539305/deconstructing-cancer-patient-information-seeking-in-a-consumer-health-library-toward-developing-a-virtual-information-consult-for-cancer-patients-and-their-caregivers-a-qualitative-instrumental-case-study
#5
Janet Papadakos, Aileen Trang, Alaina B Cyr, Nazek Abdelmutti, Meredith E Giuliani, Michelle Snow, Tara McCurdie, Menaka Pulandiran, Sara Urowitz, David Wiljer
BACKGROUND: Cancer patients and their caregivers want information about their disease and are interested in finding health information online. Despite the abundance of cancer information online, it is often fragmented, its quality is highly variable, and it can be difficult to navigate without expert-level knowledge of the cancer system. The Patient & Family Library at the Princess Margaret Cancer Centre offers a broad collection of high-quality cancer health information and staff are available to help patrons refine their questions and explore information needs that they may not have considered...
May 24, 2017: JMIR Cancer
https://www.readbyqxmd.com/read/28504035/bleomycin-pulmonary-toxicity-does-not-adversely-affect-the-outcome-of-patients-with-hodgkin-lymphoma
#6
Haowei Linda Sun, Eshetu G Atenafu, Richard Tsang, Vishal Kukreti, Theodore K Marras, Michael Crump, John Kuruvilla
Bleomycin pulmonary toxicity (BPT) is a well-described complication of bleomycin-containing regimens. Previous data on risk factors and the impact of BPT on survival in Hodgkin lymphoma (HL) were conflicting. We reviewed 253 HL patients treated with adriamycin, bleomycin, vinblastine, dacarbazine (ABVD) at the Princess Margaret Hospital from 1999 to 2009 to examine the incidence and risk factors for BPT, and the effect of BPT on survival. BPT was defined by pulmonary symptoms, bilateral interstitial infiltrates on computed tomography, and the absence of infection...
May 15, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28488289/adversity-and-resilience-amongst-resettling-western-australian-paediatric-refugees
#7
Gemma Hanes, Lydia Sung, Raewyn Mutch, Sarah Cherian
AIM: Cumulative adverse childhood experiences have long-term consequences and may manifest within and influence health, educational and psychosocial domains. The Princess Margaret Hospital Refugee Health Service (RHS) undertakes multidisciplinary screening of refugee children <16 years, allowing standardised identification of negative childhood experiences. Addition of the extended Strengths and Difficulties Questionnaire (SDQ) in 2014 aimed to augment psychological assessment of this cohort...
May 10, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28482189/the-princess-and-the-pea-effect-influence-of-the-first-layer-on-polyelectrolyte-multilayer-assembly-and-properties
#8
Xuejian Lyu, Amy M Peterson
In many applications of polyelectrolyte multilayers (PEMs), a base polycation layer is adsorbed to promote adhesion of the PEM to the substrate. In this report, the effect of the first polyelectrolyte adsorbed in a PEM was investigated by assembling PEMs with first layer polycations of different chemistries and molecular weights. In this study, quartz crystal microbalance with dissipation monitoring (QCM-D) was used to monitor the PEM assembly process. First layer choice affects the total mass accumulation of the PEM as well as the stoichiometry of the PEM, although linear growth was observed in all cases...
April 29, 2017: Journal of Colloid and Interface Science
https://www.readbyqxmd.com/read/28480074/long-term-responders-to-palliative-chemotherapy-for-advanced-biliary-tract-cancer
#9
Mark K Doherty, Mairéad G McNamara, Priya Aneja, Emma McInerney, Stephanie Moignard, Anne M Horgan, Haiyan Jiang, Tony Panzarella, Raymond Jang, Neesha Dhani, David Hedley, Jennifer J Knox
BACKGROUND: Patients with advanced biliary tract cancer (BTC) are often treated with palliative chemotherapy (PC). Standard PC since 2010 is a cisplatin/gemcitabine doublet, with median overall survival (OS) of 11.7 months from the ABC-02 trial. Prior to this, our institutional standard was gemcitabine and fluoropyrimidine. The ABC-02 study used 8 cycles of PC as standard with treatment stopped even in the absence of disease progression, but some patients may benefit from continuing PC longer than 8 cycles...
April 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28458749/what-false-negative-rates-of-non-invasive-testing-are-active-surveillance-patients-and-uro-oncologists-willing-to-accept-in-order-to-avoid-prostate-biopsy
#10
Rashid Khalid Sayyid, Dharmendra Dingar, Katherine Fleshner, Taylor Thorburn, Joshua Diamond, Erik Yao, Karen Hersey, Karen Chadwick, Nathan Perlis, Laurence Klotz, Antonio Finelli, Robert Hamilton, Girish Kulkarni, Alexandre Zlotta, Neil Fleshner
INTRODUCTION: Repeat prostate biopsies in active surveillance patients are associated with significant complications. Novel imaging and blood/urine-based non-invasive tests are being developed to better predict disease grade and volume progression. We conducted a theoretical study to determine what test performance characteristics and costs would a non-invasive test(s) require in order for patients and their physicians to comfortably avoid biopsy. METHODS: Surveys were administered to two populations to determine an acceptable false-negative rate and cost for such test(s)...
March 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28447222/feeding-strategies-in-pediatric-cancer-patients-with-gastrointestinal-mucositis-a-multicenter-prospective-observational-study-and-international-survey
#11
Nicoline S S Kuiken, Edmond H H M Rings, Marry M van den Heuvel-Eibrink, Marianne D van de Wetering, Wim J E Tissing
INTRODUCTION: Currently, there is no adequate prevention or treatment for both oral and gastrointestinal mucositis induced by chemotherapy and/or radiotherapy. Supportive care of symptoms plays a primary role during mucositis in the pediatric clinical setting. We aimed to get insight in the currently used feeding strategies in clinical practice in pediatric cancer patients with chemotherapy-induced mucositis. METHODS: A prospective observational study was performed to identify feeding strategies after chemotherapy courses causing mucositis in almost all patients at the University Medical Center Groningen (UMCG), the Academic Medical Center Amsterdam (AMC), and the Princess Maxima Center Utrecht (PMC)...
April 26, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28436498/integrative-meta-modeling-identifies-endocytic-vesicles-late-endosome-and-the-nucleus-as-the-cellular-compartments-primarily-directing-rtk-signaling
#12
Jared C Weddell, Princess I Imoukhuede
Recently, intracellular receptor signaling has been identified as a key component mediating cell responses for various receptor tyrosine kinases (RTKs). However, the extent each endocytic compartment (endocytic vesicle, early endosome, recycling endosome, late endosome, lysosome and nucleus) contributes to receptor signaling has not been quantified. Furthermore, our understanding of endocytosis and receptor signaling is complicated by cell- or receptor-specific endocytosis mechanisms. Therefore, towards understanding the differential endocytic compartment signaling roles, and identifying how to achieve signal transduction control for RTKs, we delineate how endocytosis regulates RTK signaling...
May 22, 2017: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/28420907/effectiveness-of-health-education-programme-level-of-knowledge-about-prevention-of-cervical-cancer-among-saudi-female-healthcare-students
#13
Ghadeer Khaled Al-Shaikh, Sadiqa Badar Syed, Amel Ahmed Fayed, Reem Ali Al-Shaikh, Eman Mohammed Al-Mussaed, Farida Habib Khan, Hala Nasser Elmorshedy
OBJECTIVE: To evaluate the effectiveness of health education programme on the knowledge of human papilloma virus among female medical students. METHODS: This quasi-experimental study was conducted in 2014 at the Princess Nourah bint Abulrahman University, Riyadh, Saudi Arabia, and comprised female medical students. An intervention programme was implemented in the form of lectures, videos, posters, etc. on human papillomavirus. SPSS 20 was used for data analysis...
April 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28417030/knowledge-and-attitudes-towards-basic-life-support-among-health-students-at-a-saudi-women-s-university
#14
Maha A Al-Mohaissen
OBJECTIVES: Awareness of basic life support (BLS) is paramount to ensure the provision of essential life-saving medical care in emergency situations. This study aimed to measure knowledge of BLS and attitudes towards BLS training among female health students at a women's university in Saudi Arabia. METHODS: This prospective cross-sectional study took place between January and April 2016 at five health colleges of the Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia...
February 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/28398688/survival-outcomes-for-cutaneous-angiosarcoma-of-the-scalp-versus-face
#15
Jonathan M Bernstein, Jonathan C Irish, Dale H Brown, David Goldstein, Peter Chung, Albiruni R Abdul Razak, Charles Catton, Ralph W Gilbert, Patrick J Gullane, Brian O'Sullivan
BACKGROUND: The primary purpose of this study was to examine whether angiosarcoma outcomes differ for the scalp and face. METHODS: We conducted a retrospective outcomes analysis of 50 patients with cutaneous angiosarcoma treated by curative intent identified from the Princess Margaret Cancer Centre Registry (from 1958 to 2014). RESULTS: Median survival was 26 months (95% confidence interval [CI], 17.6-34.6) and median follow-up 29 months. For the scalp and face, respectively, the 5-year locoregional control rate was 9% and 53% (p = ...
June 2017: Head & Neck
https://www.readbyqxmd.com/read/28395931/impact-of-abiraterone-acetate-and-enzalutamide-on-symptom-burden-of-patients-with-chemotherapy-naive-metastatic-castration-resistant-prostate-cancer
#16
S Salem, M Komisarenko, N Timilshina, L Martin, R Grewal, S Alibhai, A Finelli
AIMS: Treatments and disease burden of metastatic castration-resistant prostate cancer (mCRPC) considerably affect a patient's quality of life. However, patient-reported symptom burden data are still largely insufficient. This study sought to compare the self-reported symptom burden of men with chemotherapy-naive (CN) mCRPC treated with abiraterone acetate (AA) or enzalutamide (EZ) in routine clinical practice. MATERIALS AND METHODS: Between 2011 and 2015, 189 CN-mCRPC patients who had received AA (n = 76) or EZ (n = 113) at the Princess Margaret Cancer Centre were included...
April 8, 2017: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/28343905/the-dana-farber-consortium-protocol-for-the-treatment-of-adolescents-and-young-adults-with-acute-lymphoblastic-leukemia-a-single-institution-experience-in-saudi-arabia
#17
Amal S Alabdulwahab, Hussein G Elsayed, Mohamed A Sherisher, Wafa M Elbjeirami, Nelly Alieldin
BACKGROUND: Recent retrospective analyses and phase II trials have shown differential outcomes in adolescents and young adults when treated with pediatric compared with adult protocols. The aim of this study was to evaluate the efficacy and toxicity of the Dana Farber Consortium Protocol (DFCP) in Saudi young adults diagnosed with de novo acute lymphoblastic leukemia (ALL). PATIENTS AND METHODS: In this retrospective study we included 38 patients with de novo ALL who presented to King Abdulla Medical City in the period from June 2010 to March 2015 and received the DFCP (Princess Margret modified version)...
February 16, 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28323362/body-mass-index-and-prognosis-in-patients-with-head-and-neck-cancer
#18
Ricardo Ribeiro Gama, Yuyao Song, Qihuang Zhang, M Catherine Brown, Jennifer Wang, Steven Habbous, Li Tong, Shao Hui Huang, Brian O'Sullivan, John Waldron, Wei Xu, David Goldstein, Geoffrey Liu
BACKGROUND: Body mass index (BMI) has been associated variably with head and neck cancer outcomes. We evaluated the association between BMI at either diagnosis or at early adulthood head and neck cancer outcomes. METHODS: Patients with invasive head and neck squamous cell cancer at Princess Margaret Cancer Centre in Toronto, Canada, were surveyed on tobacco and alcohol exposure, performance status, comorbidities, and BMI at diagnosis. A subset also had data collected for BMI at early adulthood...
June 2017: Head & Neck
https://www.readbyqxmd.com/read/28316636/the-siesta-trial-a-randomized-study-investigating-the-efficacy-safety-and-tolerability-of-acupressure-versus-sham-therapy-for-improving-sleep-quality-in-patients-with-end-stage-kidney-disease-on-hemodialysis
#19
Kunyu Shen, Yeoungjee Cho, Elaine M Pascoe, Carmel M Hawley, Veronica Oliver, Kathryn M Hughes, Richard Baer, Jeremy Frazier, Elizabeth Jarvis, Ken-Soon Tan, Xusheng Liu, Glenda Gobe, David W Johnson
Objectives. To compare the effectiveness of real acupressure versus sham acupressure therapy in improving sleep quality in patients receiving hemodialysis (HD) or hemodiafiltration (HDF). Methods. A multicenter, single-blind, randomized controlled trial was conducted in two Australian dialysis units located in Princess Alexandra Hospital and Logan Hospital, respectively. Forty-two subjects with self-reported poor sleep quality were randomly assigned to real (n = 21) or sham (n = 21) acupressure therapy delivered thrice weekly for four consecutive weeks during routine dialysis sessions...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28286873/to-take-their-place-among-the-productive-members-of-society-vocational-rehabilitation-of-wwi-wounded-at-erskine
#20
Jennifer Novotny
In 1916, the foundation of the Princess Louise Scottish Hospital for Limbless Sailors and Soldiers (still in existence today as Erskine), on the banks of the River Clyde in Scotland, was a direct response to the need for specialised medical facilities to deal with the unprecedented number of injured service personnel returning from the Great War. At the hospital, the West of Scotland medical and industrial communities came together to mend broken bodies with prosthetic technology, as well as physical and mental rehabilitation to prepare the limbless to re-enter the job market...
January 17, 2017: Wellcome Open Research
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