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https://www.readbyqxmd.com/read/28653806/assessment-of-large-copy-number-variants-in-patients-with-apparently-isolated-congenital-left-sided-cardiac-lesions-reveals-clinically-relevant-genomic-events
#1
Neil A Hanchard, Luis A Umana, Lisa D'Alessandro, Mahshid Azamian, Mojisola Poopola, Shaine A Morris, Susan Fernbach, Seema R Lalani, Jeffrey A Towbin, Gloria A Zender, Sara Fitzgerald-Butt, Vidu Garg, Jessica Bowman, Gladys Zapata, Patricia Hernandez, Cammon B Arrington, Dieter Furthner, Siddharth K Prakash, Neil E Bowles, Kim L McBride, John W Belmont
Congenital left-sided cardiac lesions (LSLs) are a significant contributor to the mortality and morbidity of congenital heart disease (CHD). Structural copy number variants (CNVs) have been implicated in LSL without extra-cardiac features; however, non-penetrance and variable expressivity have created uncertainty over the use of CNV analyses in such patients. High-density SNP microarray genotyping data were used to infer large, likely-pathogenic, autosomal CNVs in a cohort of 1,139 probands with LSL and their families...
June 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28632787/risk-of-alzheimer-s-disease-or-dementia-following-a-cancer-diagnosis
#2
Erin J Aiello Bowles, Rod L Walker, Melissa L Anderson, Sascha Dublin, Paul K Crane, Eric B Larson
OBJECTIVE: We evaluated dementia and Alzheimer's disease (AD) risks after a cancer diagnosis in a population-based prospective cohort, the Adult Changes in Thought (ACT) study. METHODS: We followed community-dwelling people aged ≥65 years without dementia at study entry for incident dementia and AD from 1994-2015. We linked study data with cancer registry data and categorized cancer diagnoses as prevalent (diagnosed before ACT study enrollment) or incident (diagnosed during follow-up)...
2017: PloS One
https://www.readbyqxmd.com/read/28591523/completion-dissection-or-observation-for-sentinel-node-metastasis-in-melanoma
#3
RANDOMIZED CONTROLLED TRIAL
Mark B Faries, John F Thompson, Alistair J Cochran, Robert H Andtbacka, Nicola Mozzillo, Jonathan S Zager, Tiina Jahkola, Tawnya L Bowles, Alessandro Testori, Peter D Beitsch, Harald J Hoekstra, Marc Moncrieff, Christian Ingvar, Michel W J M Wouters, Michael S Sabel, Edward A Levine, Doreen Agnese, Michael Henderson, Reinhard Dummer, Carlo R Rossi, Rogerio I Neves, Steven D Trocha, Frances Wright, David R Byrd, Maurice Matter, Eddy Hsueh, Alastair MacKenzie-Ross, Douglas B Johnson, Patrick Terheyden, Adam C Berger, Tara L Huston, Jeffrey D Wayne, B Mark Smithers, Heather B Neuman, Schlomo Schneebaum, Jeffrey E Gershenwald, Charlotte E Ariyan, Darius C Desai, Lisa Jacobs, Kelly M McMasters, Anja Gesierich, Peter Hersey, Steven D Bines, John M Kane, Richard J Barth, Gregory McKinnon, Jeffrey M Farma, Erwin Schultz, Sergi Vidal-Sicart, Richard A Hoefer, James M Lewis, Randall Scheri, Mark C Kelley, Omgo E Nieweg, R Dirk Noyes, Dave S B Hoon, He-Jing Wang, David A Elashoff, Robert M Elashoff
BACKGROUND: Sentinel-lymph-node biopsy is associated with increased melanoma-specific survival (i.e., survival until death from melanoma) among patients with node-positive intermediate-thickness melanomas (1.2 to 3.5 mm). The value of completion lymph-node dissection for patients with sentinel-node metastases is not clear. METHODS: In an international trial, we randomly assigned patients with sentinel-node metastases detected by means of standard pathological assessment or a multimarker molecular assay to immediate completion lymph-node dissection (dissection group) or nodal observation with ultrasonography (observation group)...
June 8, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28554332/genomic-diagnosis-for-children-with-intellectual-disability-and-or-developmental-delay
#4
Kevin M Bowling, Michelle L Thompson, Michelle D Amaral, Candice R Finnila, Susan M Hiatt, Krysta L Engel, J Nicholas Cochran, Kyle B Brothers, Kelly M East, David E Gray, Whitley V Kelley, Neil E Lamb, Edward J Lose, Carla A Rich, Shirley Simmons, Jana S Whittle, Benjamin T Weaver, Amy S Nesmith, Richard M Myers, Gregory S Barsh, E Martina Bebin, Gregory M Cooper
BACKGROUND: Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. METHODS: Whole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated for 612 individuals (244 affected). RESULTS: Pathogenic or likely pathogenic variants were found in 100 individuals (27%), with variants of uncertain significance in an additional 42 (11...
May 30, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28526917/do-we-know-the-outcome-predictors-for-cauda-equine-syndrome-ces-a-retrospective-single-center-analysis-of-60-patients-with-ces-with-a-suggestion-for-a-new-score-to-measure-severity-of-symptoms
#5
Alexander König, Lisa Amelung, Marco Danne, Ullrich Meier, Johannes Lemcke
OBJECTIVE: Despite the awareness and familiarity of almost every medical professional with the cauda equine compression syndrome (CES), risk factors for a poor prognosis of the disease remain elusive. Even the relationship between subsequent outcome and the time elapsed from the time of appearance of symptoms to surgery taking place remain obscure. The aim of our study, therefore, was to analyze a relatively large population of our own patients studied consecutively, to identify outcome predictors for CES and to propose a clinical score for CES symptoms (Berlin CES score)...
May 19, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28512762/importance-of-group-therapeutic-support-for-family-members-of-children-with-alopecia-areata-a-cross-sectional-survey-study
#6
Kelly A Aschenbeck, Sarah L McFarland, Maria K Hordinsky, Bruce R Lindgren, Ronda S Farah
BACKGROUND/OBJECTIVES: The psychological effect of alopecia areata (AA) is well documented, but group interaction may help lessen this burden. We aimed to determine factors that draw patients with AA and their families to group events. METHODS: Surveys were administered at the annual alopecia areata bowling social in 2015 and 2016. This event is a unique opportunity for children with AA and their families to meet others with the disease and connect with local support group resources from the Minnesota branch of the National Alopecia Areata Foundation...
July 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28490182/annals-express-multiple-myeloma-and-acquired-von-willebrand-disease-a-combined-cause-of-pre-analytical-interference-causing-gel-formation
#7
Natividad RicoRios, Louise Bowles, Ruth M Ayling
We report a patient with acquired von Willebrand disease, associated with multiple myeloma. At one stage in his illness we were unable to analyse a sample sent in a serum separator tube, due to the presence of a gel within the separated serum layer. We suggest this was due to anomalous position of the gel because of the density of the sample caused by its high total protein concentration, exacerbated by fibrin strand formation because of inhibition of appropriate fibrin clot formation secondary to clotting disorder...
January 1, 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/28475605/the-impact-of-migration-and-antimicrobial-resistance-on-the-transmission-dynamics-of-typhoid-fever-in-kathmandu-nepal-a-mathematical-modelling-study
#8
Neil J Saad, Cayley C Bowles, Bryan T Grenfell, Buddha Basnyat, Amit Arjyal, Sabina Dongol, Abhilasha Karkey, Stephen Baker, Virginia E Pitzer
BACKGROUND: A substantial proportion of the global burden of typhoid fever occurs in South Asia. Kathmandu, Nepal experienced a substantial increase in the number of typhoid fever cases (caused by Salmonella Typhi) between 2000 and 2003, which subsequently declined but to a higher endemic level than in 2000. This epidemic of S. Typhi coincided with an increase in organisms with reduced susceptibility against fluoroquinolones, the emergence of S. Typhi H58, and an increase in the migratory population in Kathmandu...
May 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28473965/total-hip-arthroplasty-in-patients-with-paget-s-disease-of-bone-a-systematic-review
#9
Sammy A Hanna, Sebastian Dawson-Bowling, Steven Millington, Rej Bhumbra, Pramod Achan
AIM: To investigate the clinical and functional outcomes following total hip arthroplasty (THA) in patients with Paget's disease. METHODS: We carried out a systematic review of the literature to determine the functional outcome, complications and revision rates of THA in patients with Paget's disease. Eight studies involving 358 hips were reviewed. The mean age was 70.4 years and follow-up was 8.3 years. There were 247 cemented THAs (69%), 105 uncemented THAs (29%) and 6 hybrid THAs (2%)...
April 18, 2017: World Journal of Orthopedics
https://www.readbyqxmd.com/read/28471527/biological-characterization-of-fenpicoxamid-a-new-fungicide-with-utility-in-cereals-and-other-crops
#10
W John Owen, Chenglin Yao, Kyung Myung, Greg Kemmitt, Andrew Leader, Kevin G Meyer, Andrew J Bowling, Thomas Slanec, Vincent J Kramer
BACKGROUND: The development of novel highly efficacious fungicides that lack cross resistance is extremely desirable. Fenpicoxamid (Inatreq(TM) active) possesses these characteristics and is a member of a novel picolinamide class of fungicides derived from the antifungal natural product UK-2A. RESULTS: Fenpicoxamid strongly inhibited in vitro growth of several ascomycete fungi, including Zymoseptoria tritici (EC50 , 0.051 mg litre(-1) ). Fenpicoxamid is converted by Z...
May 4, 2017: Pest Management Science
https://www.readbyqxmd.com/read/28433411/metastatic-nasopharyngeal-carcinoma-patterns-of-care-and-survival-for-patients-receiving-chemotherapy-with-and-without-local-radiotherapy
#11
Chad G Rusthoven, Ryan M Lanning, Bernard L Jones, Arya Amini, Matthew Koshy, David J Sher, Daniel W Bowles, Jessica D McDermott, Antonio Jimeno, Sana D Karam
BACKGROUND AND PURPOSE: Radiotherapy (RT) to the primary nasopharyngeal tumor is frequently offered to patients with metastatic nasopharyngeal carcinoma (mNPC). However, only limited data exist to support RT in this setting. We used the National Cancer Database (NCDB) to evaluate outcomes for mNPC patients receiving chemotherapy with and without local RT. METHODS: The NCDB was queried for patients with mNPC with synchronous metastatic disease at diagnosis who received chemotherapy...
April 19, 2017: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/28431493/pan-intestinal-capsule-endoscopy-in-patients-with-postoperative-crohn-s-disease-a-pilot-study
#12
Johannes Hausmann, Renate Schmelz, Jens Walldorf, Natalie Filmann, Stefan Zeuzem, Jörg G Albert
BACKGROUND: Patients are at increased risk of disease recurrence after surgical treatment of Crohn's disease. Endoscopic detection of postoperative, ileo-colonic inflammation is well established, but the potential of pan-intestinal endoscopy is yet unknown. METHODS: This prospective multicenter pilot study assessed the value of pan-intestinal capsule endoscopy using a colon capsule endoscope for the detection of inflammatory recurrence of Crohn´s disease. Patients who had been operatively treated for Crohn´s disease were included...
April 21, 2017: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/28420055/perceived-stress-and-reported-cognitive-symptoms-among-georgia-patients-with-systemic-lupus-erythematosus
#13
L Plantinga, S S Lim, C B Bowling, C Drenkard
Objective To examine associations of perceived stress with cognitive symptoms among adults with systemic lupus erythematosus (SLE). Methods Among 777 adult (≥18 years) SLE patients, the association of Perceived Stress Scale (PSS) scores with two self-reported cognitive symptoms was examined: forgetfulness (severe/moderate vs. mild/none; from the Systemic Lupus Activity Questionnaire) and difficulty concentrating (all/most vs. some/little/none of the time; from the Lupus Impact Tracker). The study used multivariable logistic regression to estimate the odds ratios (ORs) per minimal important difference (MID = 0...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28389529/older-patients-perspectives-on-managing-complexity-in-ckd-self-management
#14
C Barrett Bowling, Ann E Vandenberg, Lawrence S Phillips, William M McClellan, Theodore M Johnson, Katharina V Echt
BACKGROUND AND OBJECTIVES: Patients with CKD are asked to perform self-management tasks including dietary changes, adhering to medications, avoiding nephrotoxic drugs, and self-monitoring hypertension and diabetes. Given the effect of aging on functional capacity, self-management may be especially challenging for older patients. However, little is known about the specific challenges older adults face maintaining CKD self-management regimens. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We conducted an exploratory qualitative study designed to understand the relationship among factors facilitating or impeding CKD self-management in older adults...
April 3, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28379616/from-fish-bowl-to-bedside-the-power-of-zebrafish-to-unravel-melanoma-pathogenesis-and-discover-new-therapeutics
#15
REVIEW
Ellen van Rooijen, Maurizio Fazio, Leonard I Zon
Melanoma is the most aggressive and deadliest form of skin cancer. A detailed knowledge of the cellular, molecular, and genetic events underlying melanoma progression is highly relevant to diagnosis, prognosis and risk stratification, and the development of new therapies. In the last decade, zebrafish have emerged as a valuable model system for the study of melanoma. Pathway conservation, coupled with the availability of robust genetic, transgenic, and chemical tools, has made the zebrafish a powerful model for identifying novel disease genes, visualizing cancer initiation, interrogating tumor-microenvironment interactions, and discovering new therapeutics that regulate melanocyte and melanoma development...
July 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28360239/instruments-measuring-the-disease-specific-quality-of-life-of-family-carers-of-people-with-neurodegenerative-diseases-a-systematic-review
#16
Thomas E Page, Nicolas Farina, Anna Brown, Stephanie Daley, Ann Bowling, Thurstine Basset, Gill Livingston, Martin Knapp, Joanna Murray, Sube Banerjee
OBJECTIVE: Neurodegenerative diseases, such as dementia, have a profound impact on those with the conditions and their family carers. Consequently, the accurate measurement of family carers' quality of life (QOL) is important. Generic measures may miss key elements of the impact of these conditions, so using disease-specific instruments has been advocated. This systematic review aimed to identify and examine the psychometric properties of disease-specific outcome measures of QOL of family carers of people with neurodegenerative diseases (Alzheimer's disease and other dementias; Huntington's disease; Parkinson's disease; multiple sclerosis; and motor neuron disease)...
March 29, 2017: BMJ Open
https://www.readbyqxmd.com/read/28350342/the-role-of-pi3k-isoforms-in-regulating-bone-marrow-microenvironment-signaling-focusing-on-acute-myeloid-leukemia-and-multiple-myeloma
#17
REVIEW
Rachel E Piddock, Kristian M Bowles, Stuart A Rushworth
Despite the development of novel treatments in the past 15 years, many blood cancers still remain ultimately fatal and difficult to treat, particularly acute myeloid leukaemia (AML) and multiple myeloma (MM). While significant progress has been made characterising small-scale genetic mutations and larger-scale chromosomal translocations that contribute to the development of various blood cancers, less is understood about the complex microenvironment of the bone marrow (BM), which is known to be a key player in the pathogenesis of chronic lymphocytic leukaemia (CLL), AML and MM...
March 28, 2017: Cancers
https://www.readbyqxmd.com/read/28318761/the-bone-marrow-microenvironment-home-of-the-leukemic-blasts
#18
REVIEW
Manar S Shafat, Bruno Gnaneswaran, Kristian M Bowles, Stuart A Rushworth
Acute Myeloid Leukaemia (AML) is a genetically, biologically and clinically heterogeneous set of diseases, which are characterised by an increased growth of abnormal myeloid progenitor cells within the bone marrow (BM). Ex-vivo AML exhibits a high level of spontaneous apoptosis. Furthermore, relapse for patients achieving remission occurs from minimal residual disease harboured within the BM microenvironment. Taken together, these observations illustrate the importance of the BM microenvironment in sustaining AML...
March 12, 2017: Blood Reviews
https://www.readbyqxmd.com/read/28301079/survival-impact-of-induction-chemotherapy-in-advanced-head-and-neck-cancer-a-national-cancer-database-analysis
#19
William A Stokes, Arya Amini, Bernard L Jones, Jessica D McDermott, David Raben, Debashis Ghosh, Julie A Goddard, Daniel W Bowles, Sana D Karam
BACKGROUND: Adding induction chemotherapy to concurrent chemotherapy and radiotherapy (RT) has generally not improved the overall survival (OS) in randomized trials of patients with head and neck cancer. This failure may stem from inadequate power or inappropriate patient selection, prompting this National Cancer Data Base analysis. METHODS: 8031 patients with T4 or N2b to N3 disease undergoing RT and chemotherapy were divided into induction chemotherapy and concurrent chemotherapy cohorts...
June 2017: Head & Neck
https://www.readbyqxmd.com/read/28295138/frequency-and-risk-factors-for-live-discharge-from-hospice
#20
David Russell, Eli L Diamond, Bonnie Lauder, Ritchell R Dignam, Dawn W Dowding, Timothy R Peng, Holly G Prigerson, Kathryn H Bowles
OBJECTIVES: To report frequencies and associated risk factors for 4 distinct causes of live discharge from hospice. DESIGN: Retrospective cohort study using electronic medical records of hospice patients who received care from a large urban not-for-profit hospice agency in New York City during a 3-year period between 2013 and 2015 (n = 9,190). RESULTS: Roughly one in five hospice patients were discharged alive (21%; n = 1911). Acute hospitalization was the most frequent reason for live discharge (42% of all live discharges; n = 802)...
March 13, 2017: Journal of the American Geriatrics Society
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