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https://www.readbyqxmd.com/read/29351919/high-yield-of-pathogenic-germline-mutations-causative-or-likely-causative-of-the-cancer-phenotype-in-selected-children-with-cancer
#1
Illja Diets, Esmé Waanders, Marjolijn J L Ligtenberg, Diede van Bladel, Eveline J Kamping, Peter M Hoogerbrugge, Saskia Hopman, Maran J W Olderode-Berends, Erica H Gerkes, David Koolen, Carlo Marcelis, Gijs We Santen, Martine van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Mlynarski, Denisa Ilencikova, Anneke Vulto-van Silfhout, Thatjana Gardeitchik, E S J M de Bont, Jan Loeffen, Anja Wagner, Arjen R Mensenkamp, Roland P Kuiper, Nicoline Hoogerbrugge, Marjolijn Jongmans
PURPOSE: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole exome sequencing on a selected cohort of children with cancer. EXPERIMENTAL DESIGN: To identify mutations in known and novel cancer predisposing genes, we performed trio-based whole exome sequencing on germline DNA of 40 selected children and their parents. These children were diagnosed with cancer and had at least one of the following features: (1) intellectual disability and/or congenital anomalies, (2) multiple malignancies, (3) family history of cancer or (4) an adult type of cancer...
January 19, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29351570/joint-adolescent-adult-early-phase-clinical-trials-to-improve-access-to-new-drugs-for-adolescents-with-cancer-proposals-from-the-multi-stakeholder-platform-accelerate
#2
N Gaspar, L V Marshall, D Binner, R Herold, R Rousseau, P Blanc, R Capdeville, J Carleer, C Copland, Y Kerloeguen, K Norga, L Pacaud, M-A Sevaux, C Spadoni, J Sterba, F Ligas, T Taube, M Uttenreuther-Fischer, S Chioato, M A O'Connell, B Geoerger, J-Y Blay, J C Soria, S Kaye, B Wulff, L Brugières, G Vassal, A D J Pearson
The impressive progress recently observed in adult cancers through the introduction of new drugs has not yet been translated to adolescents between 12 and 17 years of age. Currently adolescents are grouped with children, so their access to new, effective drugs already available for adults is delayed because paediatric drug development starts late relative to adult programmes. Moreover, specific early phase trials designed exclusively for adolescents in rare diseases recruit poorly, even if conducted internationally...
January 16, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29351341/labeling-for-big-data-in-radiation-oncology-the-radiation-oncology-structures-ontology
#3
Jean-Emmanuel Bibault, Eric Zapletal, Bastien Rance, Philippe Giraud, Anita Burgun
PURPOSE: Leveraging Electronic Health Records (EHR) and Oncology Information Systems (OIS) has great potential to generate hypotheses for cancer treatment, since they directly provide medical data on a large scale. In order to gather a significant amount of patients with a high level of clinical details, multicenter studies are necessary. A challenge in creating high quality Big Data studies involving several treatment centers is the lack of semantic interoperability between data sources...
2018: PloS One
https://www.readbyqxmd.com/read/29350481/emotion-regulation-and-positive-affect-in-the-context-of-salivary-alpha-amylase-response-to-pain-in-children-with-cancer
#4
Brooke N Jenkins, Douglas A Granger, Ryan J Roemer, Ariana Martinez, Tara K Torres, Michelle A Fortier
BACKGROUND: Children with cancer routinely undergo painful medical procedures invoking strong physiological stress responses. Resilience to this pain may be conferred through resources such as emotion regulation strategies and positive affect. PROCEDURE: This study measured dispositional positive affect in children with cancer (N = 73) and randomly assigned participants to one of three emotion regulation strategy conditions (distraction, reappraisal, or reassurance)...
January 19, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29349586/cancer-incidence-among-children-and-young-adults-who-have-undergone-x-ray-guided-cardiac-catheterization-procedures
#5
Richard W Harbron, Claire-Louise Chapple, John J O'Sullivan, Choonsik Lee, Kieran McHugh, Manuel Higueras, Mark S Pearce
Children and young adults with heart disease appear to be at increased risk of developing cancer, although the reasons for this are unclear. A cohort of 11,270 individuals, who underwent cardiac catheterizations while aged ≤ 22 years in the UK, was established from hospital records. Radiation doses from cardiac catheterizations and CT scans were estimated. The cohort was matched with the NHS Central Register and NHS Transplant Registry to determine cancer incidence and transplantation status. Standardized incidence ratios (SIR) with associated confidence intervals (CI) were calculated...
January 18, 2018: European Journal of Epidemiology
https://www.readbyqxmd.com/read/29349527/genetic-test-reporting-and-counseling-for-melanoma-risk-in-minors-may-improve-sun-protection-without-inducing-distress
#6
Tammy K Stump, Lisa G Aspinwall, Wendy Kohlmann, Marjan Champine, Jamie Hauglid, Yelena P Wu, Emily Scott, Pamela Cassidy, Sancy A Leachman
Genetic testing of minors is advised only for conditions in which benefits of early intervention outweigh potential psychological harms. This study investigated whether genetic counseling and test reporting for the CDKN2A/p16 mutation, which confers highly elevated melanoma risk, improved sun protection without inducing distress. Eighteen minors (Mage = 12.4, SD = 1.9) from melanoma-prone families completed measures of protective behavior and distress at baseline, 1 week (distress only), 1 month, and 1 year following test disclosure...
January 19, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29347998/radiation-exposure-in-transcatheter-patent-ductus-arteriosus-closure-time-to-tune
#7
Olivier Villemain, Sophie Malekzadeh-Milani, Fidelio Sitefane, Meriem Mostefa-Kara, Younes Boudjemline
OBJECTIVES: The aims of this study were to describe radiation level at our institution during transcatheter patent ductus arteriosus occlusion and to evaluate the components contributing to radiation exposure. BACKGROUND: Transcatheter occlusion relying on X-ray imaging has become the treatment of choice for patients with patent ductus arteriosus. Interventionists now work hard to minimise radiation exposure in order to reduce risk of induced cancers. METHODS: We retrospectively reviewed all consecutive children who underwent transcatheter closure of patent ductus arteriosus from January 2012 to January 2016...
January 19, 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29346023/fertility-preservation-in-pediatric-oncology-patients-new-perspectives
#8
Chiara Gertosio, Mariasole Magistrali, Paola Musso, Cristina Meazza, Mauro Bozzola
Over the past 30 years, advances in antineoplastic treatment led to a significant increase in the survival of patients with childhood cancer. In Europe and the United States, 82% of children, adolescents, and young adults survive 5 years from the cancer diagnosis and the majority achieves long-term survival into adulthood. The impact of cancer therapy on fertility is related to the age of the patient and to the duration, dose/intensity, and type of treatment. Exposure to chemotherapy or to radiation to gonads or pituitary brings long-term complications of cancer-directed therapies that include effects on reproductive capacity...
January 18, 2018: Journal of Adolescent and Young Adult Oncology
https://www.readbyqxmd.com/read/29341155/long-term-outcome-of-prophylactic-thyroidectomy-in-children-carrying-ret-germline-mutations
#9
A Machens, M Elwerr, K Lorenz, F Weber, H Dralle
BACKGROUND: A comprehensive assessment has not been undertaken of long-term outcomes in children carrying germline RET mutations and undergoing prophylactic thyroidectomy with the aim of preventing medullary thyroid cancer (MTC). METHODS: A retrospective outcome study (1994-2017) of prophylactic thyroidectomy in children, with and without central node dissection, was performed at a tertiary surgical centre. RESULTS: Some 167 children underwent prophylactic thyroidectomy, 109 without and 58 with concomitant central node dissection...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29340109/development-of-a-targeted-sequencing-approach-to-identify-prognostic-predictive-and-diagnostic-markers-in-paediatric-solid-tumours
#10
Elisa Izquierdo, Lina Yuan, Sally George, Michael Hubank, Chris Jones, Paula Proszek, Janet Shipley, Susanne A Gatz, Caedyn Stinson, Andrew S Moore, Steven C Clifford, Debbie Hicks, Janet C Lindsey, Rebecca M Hill, Thomas S Jacques, Jane Chalker, Khin Thway, Simon O'Connor, Lynley Marshall, Lucas Moreno, Andrew Pearson, Louis Chesler, Brian A Walker, David Gonzalez De Castro
The implementation of personalised medicine in childhood cancers has been limited by a lack of clinically validated multi-target sequencing approaches specific for paediatric solid tumours. In order to support innovative clinical trials in high-risk patients with unmet need, we have developed a clinically relevant targeted sequencing panel spanning 311 kb and comprising 78 genes involved in childhood cancers. A total of 132 samples were used for the validation of the panel, including Horizon Discovery cell blends (n=4), cell lines (n=15), formalin-fixed paraffin embedded (FFPE, n=83) and fresh frozen tissue (FF, n=30) patient samples...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29339701/subclinical-reduction-in-left-ventricular-function-using-triplane-and-2d-speckle-tracking-echocardiography-after-anthracycline-exposure-in-children
#11
Erman Çilsal, Ayşe Deniz Oğuz, Fatma Sedef Tunaoğlu, Serdar Kula, Ayhan Pektaş
OBJECTIVE: Speckle tracking echocardiography (STE) enables global and regional evaluation of the left ventricle (LV); therefore, it is the most useful method for detecting subclinical dysfunction in patients exposed to cardiotoxic agents. A novel technique triplane (3P) echocardiography also allows single beat assessment of LV global longitudinal strain values. We firstly aimed to demonstrate both two-dimensional (2D)- and 3PSTE-derived LV global longitudinal strain measurements in children after anthracycline exposure...
January 2018: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/29339161/a-new-genetically-engineered-mouse-model-of-choroid-plexus-carcinoma
#12
Salsabiel El Nagar, Frederique Zindy, Charlotte Moens, Luc Martin, Damien Plassard, Martine F Roussel, Thomas Lamonerie, Nathalie Billon
Choroid plexus carcinomas (CPCs) are highly malignant brain tumours predominantly found in children and associated to poor prognosis. Improved therapy for these cancers would benefit from the generation of animal models. Here we have created a novel mouse CPC model by expressing a stabilised form of c-Myc (MycT58A) and inactivating Trp53 in the choroid plexus of newborn mice. This induced aberrant proliferation of choroid plexus epithelial cells, leading to aggressive tumour development and death within 150 days...
January 12, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29338904/pain-and-its-impact-on-the-functional-ability-in-children-treated-at-the-children-s-cancer-center-of-lebanon
#13
Dina Madi, Michael Clinton
PURPOSE: The purpose of this study was to describe the characteristics of pain in children under treatment at the Children Cancer Centre of Lebanon at the American University of Beirut Medical Centre. Design and Methods A cross-sectional correlational survey was used. The Adolescent Pediatric Pain Tool and the Functional Disability Inventory were used to examine the characteristics of pain experienced in a consecutive sample of children treated at the CCCL and its impact on their functional abilities...
January 12, 2018: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/29337457/-pharmacovigilance-update
#14
Françoise Livio
The main pharmacovigilance updates in 2017 are reviewed. Denosumab : rebound-associated multiple vertebral fractures after discontinuation. Canagliflozine: increased risk of foot/leg amputations. Biologic and targeted cancer therapies, direct-acting antivirals for chronic hepatitis C: risk of hepatitis B reactivation. Checkpoint inhibitors : immune-related adverse events and graft rejection. Fingolimod : rebound-associated reactivation of MS following withdrawal. Daclizumab: risk of severe liver injury leading to restricted use in MS patients...
January 10, 2018: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29336779/prophylactic-thyroidectomies-in-men2-syndrome-management-and-outcomes
#15
Virginie Bussières, Shreyas Roy, Johnny Deladoey, Élisabeth Rousseau, Dickens St-Vil, Nelson Piché
AIM OF THE STUDY: The aim of the study was to evaluate the outcomes of prophylactic thyroidectomies performed in an academic setting in the context of multiple endocrine neoplasia type 2 (MEN2) syndrome. METHODS: A chart review of patients <18years old who underwent prophylactic thyroidectomy for a MEN2 syndrome at a children's hospital between 2006 and 2015 was performed. MAIN RESULTS: The study included 21 patients (57% female) with a mean age of 6...
November 13, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29336728/the-efficacy-of-cognitive-interventions-for-improving-cognitive-performance-and-academic-achievement-in-children-after-cancer-treatment-a-systematic-review
#16
Susan M Pfeiffer, Amanda D Hutchinson
Academic decline has been reported in children after cancer treatment, believed to be as a result of cognitive impairment. Cognitive interventions may improve both the present and future outcomes for children after cancer treatment by improving cognitive and/or academic performance. This review aimed to examine the efficacy of cognitive interventions in children who had received cancer treatment. A systematic search of the PsycInfo and PubMed databases was conducted in May 2015 to identify studies in which cognitive interventions were conducted with children who had undergone cancer treatment and were under the age of 21...
January 16, 2018: Journal of Psychosocial Oncology
https://www.readbyqxmd.com/read/29335887/sphingadienes-show-therapeutic-efficacy-in-neuroblastoma-in-vitro-and-in-vivo-by-targeting-the-akt-signaling-pathway
#17
Piming Zhao, Ana E Aguilar, Joanna Y Lee, Lucy A Paul, Jung H Suh, Latika Puri, Meng Zhang, Jennifer Beckstead, Andrzej Witkowski, Robert O Ryan, Julie D Saba
Neuroblastoma is a childhood malignancy that accounts for approximately 15% of childhood cancer deaths. Only 20-35% of children with metastatic neuroblastoma survive with standard therapy. Identification of more effective therapies is essential to improving the outcome of children with high-stage disease. Sphingadienes (SD) are growth-inhibitory sphingolipids found in natural sources including soy. They exhibit chemopreventive activity in mouse models of colon cancer, where they mediate cytotoxicity by inhibiting key pro-carcinogenic signaling pathways...
January 16, 2018: Investigational New Drugs
https://www.readbyqxmd.com/read/29335448/regional-evaluation-of-childhood-acute-lymphoblastic-leukemia-genetic-susceptibility-loci-among-japanese
#18
Kevin Y Urayama, Masatoshi Takagi, Takahisa Kawaguchi, Keitaro Matsuo, Yoichi Tanaka, Yoko Ayukawa, Yuki Arakawa, Daisuke Hasegawa, Yuki Yuza, Takashi Kaneko, Yasushi Noguchi, Yuichi Taneyama, Setsuo Ota, Takeshi Inukai, Masakatsu Yanagimachi, Dai Keino, Kazutoshi Koike, Daisuke Toyama, Yozo Nakazawa, Hidemitsu Kurosawa, Kozue Nakamura, Koichi Moriwaki, Hiroaki Goto, Yujin Sekinaka, Daisuke Morita, Motohiro Kato, Junko Takita, Toshihiro Tanaka, Johji Inazawa, Katsuyoshi Koh, Yasushi Ishida, Akira Ohara, Shuki Mizutani, Fumihiko Matsuda, Atsushi Manabe
Genome-wide association studies (GWAS) performed mostly in populations of European and Hispanic ancestry have confirmed an inherited genetic basis for childhood acute lymphoblastic leukemia (ALL), but these associations are less clear in other races/ethnicities. DNA samples from ALL patients (aged 0-19 years) previously enrolled onto a Tokyo Children's Cancer Study Group trial were collected during 2013-2015, and underwent single nucleotide polymorphism (SNP) microarray genotyping resulting in 527 B-cell ALL for analysis...
January 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29335375/reflections-on-telomere-dynamics-and-ageing-related-diseases-in-humans
#19
REVIEW
Abraham Aviv, Jerry W Shay
Epidemiological studies have principally relied on measurements of telomere length (TL) in leucocytes, which reflects TL in other somatic cells. Leucocyte TL (LTL) displays vast variation across individuals-a phenomenon already observed in newborns. It is highly heritable, longer in females than males and in individuals of African ancestry than European ancestry. LTL is also longer in offspring conceived by older men. The traditional view regards LTL as a passive biomarker of human ageing. However, new evidence suggests that a dynamic interplay between selective evolutionary forces and TL might result in trade-offs for specific health outcomes...
March 5, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29335155/investigating-the-potential-impact-of-dose-banding-for-systemic-anti-cancer-therapy-in-the-paediatric-setting-based-on-pharmacokinetic-evidence
#20
Melanie White-Koning, Caroline Osborne, Angelo Paci, Alan V Boddy, Etienne Chatelut, Gareth J Veal
BACKGROUND: To make systemic anti-cancer therapy (SACT) preparation more practicable, dose-banding approaches are currently being introduced in many clinical centres. The present study aimed to determine the potential impact of using recently developed National Health Service in England (NHSE) dose-banding tables in a paediatric setting. METHODS: Using pharmacokinetic parameters obtained from 385 drug administrations in 352 children aged from 1 month to 18 years, treated with five drugs (dactinomycin, busulfan, carboplatin, cyclophosphamide and etoposide), individual exposures (area under the plasma drug concentration versus time curve; AUC) obtained using doses rounded according to the published NHSE tables were calculated and compared with those obtained by standard dose calculation methods...
January 12, 2018: European Journal of Cancer
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