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https://www.readbyqxmd.com/read/29169204/newborn-genetic-screening-for-spinal-muscular-atrophy-in-the-uk-the-views-of-the-general-population
#1
Felicity K Boardman, Chloe Sadler, Philip J Young
BACKGROUND: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for SMA in the UK. Lack of treatments and the inability of screening tests to accurately predict disease severity are among the key reasons implementation of screening has faltered in the UK. With the recent release of the first therapy for SMA (Nusinersen), calls are being made for a reconsideration of this stance; however, very little is known about the views of the general public...
November 23, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29168980/inability-to-reduce-morbidity-of-diarrhea-by-ors-can-we-design-a-better-therapy
#2
Jane E Harrell, Sam X Cheng
Diarrheal disease is a worldwide problem that still causes significant morbidity and mortality among children. Currently, oral rehydration solution (ORS) is the standard of care for acute diarrhea in pediatric patients. While effective in reducing mortality, ORS does not alleviate diarrheal symptoms, thus reducing caregiver compliance and therapeutic efficacy. This manuscript will briefly review the current problem of pediatric diarrhea and the shortcomings of current therapies; however, the focus of this review is to examine the intestinal calcium-sensing receptor (CaSR)...
November 23, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29168034/physical-activity-among-cancer-survivors-what-is-their-perception-and-experience
#3
Jan-Christoph Höh, Thorsten Schmidt, Jutta Hübner
PURPOSE: Physical activity (PA) plays an important role relating to cancer. The aim of this study was to investigate the attitude to and experience with the subject of PA in cancer in a large group of tumour patients. METHODS: A standardised questionnaire was carried out and distributed to patients online and in printed form. RESULTS: Nine hundred five patients answered the questionnaire. Most tumour patients (60%) received information about PA after their cancer therapy...
November 22, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/29166244/precision-medicine-from-a-public-health-perspective
#4
Ramya Ramaswami, Ronald Bayer, Sandro Galea
Over the past decade, precision medicine (PM) approaches have received significant investment to create new therapies, learn more about disease processes, and potentially prevent diseases before they arise. However, in many ways, PM investments may come at the expense of existing public health measures that could have a greater impact on population health. As we tackle burgeoning public health concerns, such as obesity, and chronic diseases, such as cancer, it is not clear whether PM is aligned with public health or in conflict with its goals...
November 20, 2017: Annual Review of Public Health
https://www.readbyqxmd.com/read/29165915/development-and-implementation-of-a-radiation-therapy-incident-learning-system-compatible-with-local-workflow-and-a-national-taxonomy
#5
Logan Montgomery, Palma Fava, Carolyn R Freeman, Tarek Hijal, Ciro Maietta, William Parker, John Kildea
PURPOSE: Collaborative incident learning initiatives in radiation therapy promise to improve and standardize the quality of care provided by participating institutions. However, the software interfaces provided with such initiatives must accommodate all participants and thus are not optimized for the workflows of individual radiation therapy centers. This article describes the development and implementation of a radiation therapy incident learning system that is optimized for a clinical workflow and uses the taxonomy of the Canadian National System for Incident Reporting - Radiation Treatment (NSIR-RT)...
November 22, 2017: Journal of Applied Clinical Medical Physics
https://www.readbyqxmd.com/read/29161240/rapid-nodal-staging-of-head-and-neck-cancer-surgical-specimens-with-flow-cytometric-analysis
#6
Valtteri Häyry, Åsa Kågedal, Eric Hjalmarsson, Pedro Farrajota Neves da Silva, Cecilia Drakskog, Gregori Margolin, Susanna Kumlien Georén, Eva Munck-Wikland, Ola Winqvist, Lars Olaf Cardell
BACKGROUND: Detection of metastatic spread of head and neck cancer to cervical lymph nodes is essential for optimal design of therapy. Undetected metastases lead to mortality, which can be prevented by better detection methods. METHODS: We analysed 41 lymph nodes from 19 patients with oral squamous cell carcinoma (OSCC). Each lymph node was divided in two, one half processed for histopathology and the other half dissociated into single-cell suspension, stained for the carcinoma cell markers cytokeratin 5/8 (CK5/8), epithelial cell adhesion molecule (EpCAM) and epithelial mucin (MUC-1), and analysed with flow cytometry...
November 21, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/29160775/anatomical-robust-optimization-to-account-for-nasal-cavity-filling-variation-during-intensity-modulated-proton-therapy-a-comparison-with-conventional-and-adaptive-planning-strategies
#7
Steven van de Water, Francesca Albertini, Damien Charles Weber, Ben J M Heijmen, Mischa S Hoogeman, Antony John Lomax
The aim of this study is to develop an anatomical robust optimization method for intensity-modulated proton therapy (IMPT) that accounts for interfraction variations in nasal cavity filling, and to compare it with conventional single-field uniform dose (SFUD) optimization and online plan adaptation. We included CT data of five patients with tumors in the sinonasal region. Using the planning CT, we generated for each patient 25 'synthetic' CTs with varying nasal cavity filling. The robust optimization method available in our treatment planning system 'Erasmus-iCycle' was extended to also account for anatomical uncertainties by including (synthetic) CTs with varying patient anatomy as error scenarios in the inverse optimization...
November 21, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/29158993/antimicrobial-consumption-on-austrian-dairy-farms-an-observational-study-of-udder-disease-treatments-based-on-veterinary-medication-records
#8
Clair L Firth, Annemarie Käsbohrer, Corina Schleicher, Klemens Fuchs, Christa Egger-Danner, Martin Mayerhofer, Hermann Schobesberger, Josef Köfer, Walter Obritzhauser
Background: Antimicrobial use in livestock production is an important contemporary issue, which is of public interest worldwide. Antimicrobials are not freely available to Austrian farmers and can only be administered to livestock by veterinarians, or by farmers who are trained members of the Animal Health Service. Since 2015, veterinarians have been required by law to report antimicrobials dispensed to farmers for use in food-producing animals. The study presented here went further than the statutory framework, and collected data on antimicrobials dispensed to farmers and those administered by veterinarians...
2017: PeerJ
https://www.readbyqxmd.com/read/29158558/protein-arginine-methyltransferase-5-prmt5-has-prognostic-relevance-and-is-a-druggable-target-in-multiple-myeloma
#9
A Gullà, T Hideshima, G Bianchi, M Fulciniti, M K Samur, J Qi, Y-T Tai, T Harada, E Morelli, N Amodio, R Carrasco, P Tagliaferri, N C Munshi, P Tassone, K C Anderson
Arginine methyltransferases critically regulate cellular homeostasis by modulating the functional outcome of their substrates. The protein arginine methyltransferase 5 (PRMT5) is an enzyme involved in growth and survival pathways promoting tumorigenesis. However, little is known about the biologic function of PRMT5 and its therapeutic potential in multiple myeloma (MM). In the present study, we identified and validated PRMT5 as a new therapeutic target in MM. PRMT5 is overexpressed in patient MM cells and associated with decreased PFS and OS...
November 21, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29158557/mir-29b-antagonizes-the-pro-inflammatory-tumor-promoting-activity-of-multiple-myeloma-educated-dendritic-cells
#10
C Botta, M Cucè, M R Pitari, D Caracciolo, A Gullà, E Morelli, C Riillo, L Biamonte, M E G Cantafio, R Prabhala, C Mignogna, A Di Vito, E Altomare, N Amodio, M T Di Martino, P Correale, M Rossi, A Giordano, N C Munshi, P Tagliaferri, P Tassone
Dendritic cells (DCs) play a key role in regulating tumor immunity, tumor cell growth and drug resistance. We hypothesized that multiple myeloma (MM) cells might recruit and reprogram DCs to a tumor-permissive phenotype by changes within their miRNA network. By analyzing 6 different miRNA-profiling datasets, miR-29b was identified as the only miRNA upregulated in normal mature DCs and significantly downregulated in tumor associated DCs. This finding was validated in primary DCs co-cultured in vitro with MM cell lines and in primary bone marrow DCs from MM patients...
November 21, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29158207/school-counselors-perspectives-of-a-web-based-stepped-care-mental-health-service-for-schools-cross-sectional-online-survey
#11
Bridianne O'Dea, Catherine King, Mirjana Subotic-Kerry, Kathleen O'Moore, Helen Christensen
BACKGROUND: Mental health problems are common among youth in high school, and school counselors play a key role in the provision of school-based mental health care. However, school counselors occupy a multispecialist position that makes it difficult for them to provide care to all of those who are in need in a timely manner. A Web-based mental health service that offers screening, psychological therapy, and monitoring may help counselors manage time and provide additional oversight to students...
November 20, 2017: JMIR Mental Health
https://www.readbyqxmd.com/read/29157662/evaluation-of-guideline-adherence-in-colorectal-cancer-treatment-in-the-netherlands-a-survey-among-medical-oncologists-by-the-dutch-colorectal-cancer-group
#12
Lotte Keikes, Martijn G H van Oijen, Valery E P P Lemmens, Miriam Koopman, Cornelis J A Punt
BACKGROUND: Clinical guidelines are generated to preserve high-quality evidence-based care. Data on the implementation of guidelines into clinical practice are scarce, despite that guideline adherence prevents over- and undertreatment and correlates with survival. Therefore, we investigated guideline adherence for the systemic treatment in high-risk stage II and stage III colon cancer and metastatic colorectal cancer. PATIENTS AND METHODS: In all Dutch hospitals (n = 88) 1 medical oncologist involved in colorectal cancer care was approached to participate...
November 17, 2017: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/29155634/how-does-imaging-of-congenital-zika-compare-with-imaging-of-other-torch-infections
#13
Deborah Levine, Jacques C Jani, Ilse Castro-Aragon, Mieke Cannie
The acronym TORCH is used to refer to congenital infections, such as toxoplasmosis, other infections (such as syphillis, varicella-zoster, and parvovirus B19), cytomegalovirus, and herpes simplex virus. The classic findings in patients with TORCH infections include rash in the mother during pregnancy and ocular findings in the newborn. Zika virus has emerged as an important worldwide congenital infection. It fits well with other congenital TORCH infections since there is a rash in the mother and there are commonly ocular abnormalities in the newborn...
December 2017: Radiology
https://www.readbyqxmd.com/read/29155436/enzyme-replacement-therapy-for-infantile-onset-pompe-disease
#14
REVIEW
Min Chen, Lingli Zhang, Shuyan Quan
BACKGROUND: Infantile-onset Pompe disease is a rare and progressive autosomal-recessive disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Current treatment involves enzyme replacement therapy (with recombinant human alglucosidase alfa) and symptomatic therapies (e.g. to control secretions). Children who are cross-reactive immunological material (CRIM)-negative require immunomodulation prior to commencing enzyme replacement therapy.Enzyme replacement therapy was developed as the most promising therapeutic approach for Pompe disease; however, the evidence is lacking, especially regarding the optimal dose and dose frequency...
November 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29155424/immune-checkpoint-inhibitors-in-sarcomas-in-quest-of-predictive-biomarkers
#15
Robin Veenstra, Marie Kostine, Anne-Marie Cleton-Jansen, Noel Fcc de Miranda, Judith Vmg Bovée
Sarcomas are a rare group of tumors of mesenchymal origin. Metastatic sarcomas are often difficult to treat and unresponsive to standard radio- and chemotherapy, resulting in a poor survival rate for patients. Novel treatments with immune checkpoint inhibitors have been proven to prolong survival of patients with a variety of cancers, including metastatic melanoma, lung, and renal cell carcinoma. Since immune checkpoint inhibitors could provide a novel treatment option for patients with sarcomas, clinical trials investigating their efficacy in these group of tumors are ongoing...
November 20, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29155421/characterization-of-neural-stem-cells-modified-with-hypoxia-neuron-specific-vegf-expression-system-for-spinal-cord-injury
#16
Y Yun, J Oh, Y Kim, G Kim, M Lee, Y Ha
Spinal cord injury (SCI) is an incurable disease causing an ischemic environment and functional defect, thus a new therapeutic approach is needed for SCI treatment. Vascular endothelial growth factor (VEGF) is a potent therapeutic gene to treat SCI via angiogenesis and neuroprotection, and both tissue-specific gene expression and high gene delivery efficiency are important for successful gene therapy. Here we design the hypoxia/neuron dual-specific gene expression system (pEpo-NSE) and efficient gene delivery platform can be achieved by the combination ex vivo gene therapy with erythropoietin (Epo) enhancer, neuron-specific enolase (NSE) promoter and neural stem cells (NSCs)...
November 20, 2017: Gene Therapy
https://www.readbyqxmd.com/read/29154509/technology-assisted-rehabilitation-interventions-following-pediatric-brain-injury
#17
Shari L Wade, Megan E Narad, Emily L Shultz, Brad G Kurowski, Aimee E Miley, Jessica M Aguilar, Anna-Lynne R Adlam
INTRODUCTION: Following traumatic brain injury (TBI), children experience a variety of physical, motor, speech, and cognitive deficits that can have a long-term detrimental impact. The emergence and popularity of new technologies has led to research into the development of various apps, gaming systems, websites, and robotics that might be applied to rehabilitation. The objective of this narrative review was to describe the current literature technologically-assisted interventions for the rehabilitation of motor, neurocognitive, behavioral, and family impairments following pediatric TBI...
November 20, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/29154070/complementary-and-alternative-therapies-in-dentistry-and-characteristics-of-dentists-who-recommend-them
#18
Beatrice Baatsch, Stefan Zimmer, Daniela Rodrigues Recchia, Arndt Büssing
OBJECTIVES: The aims of this study were to analyse whether dentists offer or recommend complementary and alternative medicine (CAM) remedies in their clinical routine, and how effective these are rated by proponents and opponents. A second aim of this study was to give a profile of the dentists endorsing CAM. DESIGN: A prospective, explorative, anonymised cross-sectional survey was spread among practicing dentists in Germany via congresses, dental periodicals and online (n=250, 55% male, 45% female; mean age 49...
December 2017: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/29151591/us-health-policy-and-prescription-drug-coverage-of-fda-approved-medications-for-the-treatment-of-obesity
#19
G Gomez, F C Stanford
OBJECTIVE: Obesity is now the most prevalent chronic disease in the United States, which amounts to an estimated $147 billion in health care spending annually. The Affordable Care Act (ACA) enacted in 2010, included provisions for private and public health insurance plans that expanded coverage for lifestyle/behavior modification and bariatric surgery for the treatment of obesity. Pharmacotherapy, however, has not been included despite their evidence-based efficacy. We set out to investigate the coverage of FDA-approved medications for obesity within Medicare, Medicaid, and ACA-established marketplace health insurance plans...
November 20, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29151581/human-pbmc-transferred-murine-mhc-class-i-ii-deficient-nog-mice-enable-long-term-evaluation-of-human-immune-responses
#20
Tomonori Yaguchi, Asuka Kobayashi, Takashi Inozume, Kenji Morii, Haruna Nagumo, Hiroshi Nishio, Takashi Iwata, Yuyo Ka, Ikumi Katano, Ryoji Ito, Mamoru Ito, Yutaka Kawakami
Immunodeficient mice engrafted with human peripheral blood cells are promising tools for in vivo analysis of human patient individual immune responses. However, when human peripheral blood mononuclear cells (PBMCs) are transferred into NOG (NOD/Shi-scid, IL-2rg(null)) mice, severe graft versus host disease (GVHD) hinders long term detailed analysis. Administration of human PBMCs into newly developed murine MHC class I- and class II-deficient NOG (NOG-dKO; NOG- Iab, B2m-double-knockout) mice showed sufficient engraftment of human immune cells with little sign of GVHD...
November 20, 2017: Cellular & Molecular Immunology
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