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https://www.readbyqxmd.com/read/28098915/somatic-mutational-spectrum-analysis-in-a-prospective-series-of-104-gastrointestinal-stromal-tumors
#1
David Guenat, Olivier Deroo, Sandrine Magnin, Loïc Chaigneau, Franck Monnien, Christophe Borg, Christiane Mougin, Jean-François Emile, Jean-Luc Prétet
Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors distinguished by driver mutations in proto-oncogenes KIT or PDGFRA in 85-90% of cases. These mutations have been linked to the response to imatinib, a multikinase inhibitor, and have independent prognostic impact. Here, we describe the prospective study of the molecular characteristics of 104 GISTs from French adult patients analyzed routinely through the National Hospital Program of Molecular Cancer Diagnosis. All patients with GISTs diagnosed at the University Hospital of Besançon between August 2005 and October 2014 were prospectively included in the present study...
January 17, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#2
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098879/cytokines-inducers-and-inhibitors-modulate-mmp-2-and-mmp%C3%A2-9-secretion-by-human-fanconi-anemia-immortalized-fibroblasts
#3
M W Roomi, T Kalinovsky, M Rath, A Niedzwiecki
Acute myeloid leukemia and head and neck squamous cell carcinomas are the major causes of mortality and morbidity in Fanconi anemia (FA) patients. Matrix metalloproteinases (MMPs), particularly MMP-2 and MMP-9, have been implicated in tumor invasion and metastasis. Various cytokines, mitogens, growth factors, inducers and inhibitors control MMP activities. We investigated the roles of these in the regulation of MMP-2 and MMP-9 in human immortalized fibroblasts from FA. Human FA immortalized fibroblast cell lines FA-A:PD220 and FA-D2:PD20 were grown in minimum essential medium (MEM) supplemented with 15% fetal bovine serum (FBS) and antibiotics in 24-well tissue culture plates...
January 16, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28098766/single-electrode-deep-brain-stimulation-with-dual-targeting-at-dual-frequency-for-the-treatment-of-chronic-pain-a-case-series-and-review-of-the-literature
#4
REVIEW
Milo Hollingworth, Hugh P Sims-Williams, Anthony E Pickering, Neil Barua, Nikunj K Patel
Deep Brain Stimulation (DBS) has been used to target many deep brain structures for the treatment of chronic pain. The periaqueductal grey and periventricular grey (PAG/PVG) is an effective target but results are variable, sometimes short-lived or subject to tolerance. The centromedian intra-laminar parafascicular complex (CMPf) modulates medial pain pathways and CMPf DBS may address the affective aspects of pain perception. Stimulation of multiple deep brain targets may offer a strategy to optimize management of patients with complex pain symptomatology...
January 13, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28098743/analysis-of-incident-and-accident-reports-and-risk-management-in-spine-surgery
#5
Kazuyoshi Kobayashi, Shiro Imagama, Kei Ando, Tetsuro Hida, Kenyu Ito, Mikito Tsushima, Yoshimoto Ishikawa, Akiyuki Matsumoto, Masayoshi Morozumi, Yoshihiro Nishida, Yoshimasa Nagao, Naoki Ishiguro
STUDY DESIGN: A review of accident and incident reports. OBJECTIVE: To analyze prevalence, characteristics, and details of perioperative incidents and accidents in patients receiving spine surgery. SUMMARY OF BACKGROUND DATA: In our institution, a clinical error that potentially results in an adverse event is usually submitted as an incident or accident report through a web database, to ensure anonymous and blame-free reporting. All reports are analyzed by a medical safety management group...
January 16, 2017: Spine
https://www.readbyqxmd.com/read/28098730/novel-classification-system-for-combined-hamartoma-of-the-retina-and-retinal-pigment-epithelium
#6
Vaidehi S Dedania, Cem Ozgonul, David N Zacks, Cagri G Besirli
PURPOSE: To develop an anatomical classification scheme for combined hamartoma of the retina and retinal pigment epithelium (RPE) and specify recommendations for follow-up interval. METHODS: Retrospective review of patients with combined hamartoma of the retina and RPE examined during a 7-year period (2008-2015). The clinical presentation, fundus examination, and optical coherence tomography were analyzed. RESULTS: Lesions were classified based on location, fundus features, and optical coherence tomography findings...
January 16, 2017: Retina
https://www.readbyqxmd.com/read/28098709/multimodal-imaging-during-the-evolution-of-blood-brain-barrier-disruption-maculopathy
#7
Bikramjit P Pal, Tapani Palosaari, Tero Kivelä
PURPOSE: To highlight the course of blood-brain barrier disruption maculopathy in a patient with successfully managed relapsed central nervous system lymphoma. METHODS: Case report with fundus autofluorescence and optical coherence tomography imaging, and literature review. RESULTS: A 57-year-old patient diagnosed with central nervous system large B-cell lymphoma had a normal ophthalmic evaluation on his first visit. Subsequently, when his malignancy recurred locally, he was started on blood-brain barrier disruption therapy and intraarterial methotrexate...
January 16, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28098705/heterotopic-ossification-in-acetabular-fracture-surgery
#8
Reza Firoozabadi, Timothy Alton, Henry Claude Sagi
Heterotopic ossification (HO) is a common complication of the surgical treatment of acetabular fractures. HO is the formation of trabecular bone in soft tissues where bone does not usually occur. Over the last decade, many risk factors have been identified for HO after surgical fixation of acetabular fractures; however, prophylaxis and treatment of this condition are controversial. Potential preventive measures range from NSAIDs to external beam irradiation, but recent studies have questioned the utility of these measures...
February 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/28098674/diethylstilbestrol-potential-health-risks-for-women-exposed-in-utero-and-their-offspring
#9
J Leocadia Conlon
Diethylstilbestrol (DES) is a synthetic estrogen given to pregnant women to prevent miscarriages and preterm labor; the drug was used between 1941 and 1971 in the United States and into the 1980s in other countries. DES exposure is associated with significant long-term health effects, including increased risk for breast cancer, cervical and vaginal clear cell adenocarcinoma, reproductive tract abnormalities, infertility, poor pregnancy outcomes, and early menopause. This article reviews the potential health risks associated with DES exposure, how to assess which patients are at risk, and management recommendations for patients exposed to DES...
February 2017: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/28098662/management-of-a-patient-with-antiphospholipid-syndrome-undergoing-aortic-valve-replacement-using-the-hepcon-hemostasis-management-system-plus-and-rotational-thromboelastometry-a-case-report
#10
Yuriko Samejima, Mitsuharu Kodaka, Junko Ichikawa, Tetsu Mori, Kazuyoshi Ando, Keiko Nishiyama, Makiko Komori
A 72-year-old woman with antiphospholipid syndrome underwent aortic valve replacement. Her preoperative activated partial thromboplastin time was 61.7 seconds and activated clotting time was 219 seconds. During cardiopulmonary bypass, the Hepcon Hemostasis Management System (HMS) Plus determined the heparin dose needed to maintain whole-body heparin at 3 U/mL. After cardiopulmonary bypass, 100 mg of protamine was administered based on heparin-protamine neutralization, and the activated clotting time decreased...
January 16, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28098622/physician-assisted-suicide-and-euthanasia-in-the-icu-a-dialogue-on-core-ethical-issues
#11
Ewan C Goligher, E Wesley Ely, Daniel P Sulmasy, Jan Bakker, John Raphael, Angelo E Volandes, Bhavesh M Patel, Kate Payne, Annmarie Hosie, Larry Churchill, Douglas B White, James Downar
OBJECTIVE: Many patients are admitted to the ICU at or near the end of their lives. Consequently, the increasingly common debate regarding physician-assisted suicide and euthanasia holds implications for the practice of critical care medicine. The objective of this article is to explore core ethical issues related to physician-assisted suicide and euthanasia from the perspective of healthcare professionals and ethicists on both sides of the debate. SYNTHESIS: We identified four issues highlighting the key areas of ethical tension central to evaluating physician-assisted suicide and euthanasia in medical practice: 1) the benefit or harm of death itself, 2) the relationship between physician-assisted suicide and euthanasia and withholding or withdrawing life support, 3) the morality of a physician deliberately causing death, and 4) the management of conscientious objection related to physician-assisted suicide and euthanasia in the critical care setting...
February 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28098591/surviving-sepsis-campaign-international-guidelines-for-management-of-sepsis-and-septic-shock-2016
#12
Andrew Rhodes, Laura E Evans, Waleed Alhazzani, Mitchell M Levy, Massimo Antonelli, Ricard Ferrer, Anand Kumar, Jonathan E Sevransky, Charles L Sprung, Mark E Nunnally, Bram Rochwerg, Gordon D Rubenfeld, Derek C Angus, Djillali Annane, Richard J Beale, Geoffrey J Bellinghan, Gordon R Bernard, Jean-Daniel Chiche, Craig Coopersmith, Daniel P De Backer, Craig J French, Seitaro Fujishima, Herwig Gerlach, Jorge Luis Hidalgo, Steven M Hollenberg, Alan E Jones, Dilip R Karnad, Ruth M Kleinpell, Younsuk Koh, Thiago Costa Lisboa, Flavia R Machado, John J Marini, John C Marshall, John E Mazuski, Lauralyn A McIntyre, Anthony S McLean, Sangeeta Mehta, Rui P Moreno, John Myburgh, Paolo Navalesi, Osamu Nishida, Tiffany M Osborn, Anders Perner, Colleen M Plunkett, Marco Ranieri, Christa A Schorr, Maureen A Seckel, Christopher W Seymour, Lisa Shieh, Khalid A Shukri, Steven Q Simpson, Mervyn Singer, B Taylor Thompson, Sean R Townsend, Thomas Van der Poll, Jean-Louis Vincent, W Joost Wiersinga, Janice L Zimmerman, R Phillip Dellinger
OBJECTIVE: To provide an update to "Surviving Sepsis Campaign Guidelines for Management of Sepsis and Septic Shock: 2012." DESIGN: A consensus committee of 55 international experts representing 25 international organizations was convened. Nominal groups were assembled at key international meetings (for those committee members attending the conference). A formal conflict-of-interest (COI) policy was developed at the onset of the process and enforced throughout. A stand-alone meeting was held for all panel members in December 2015...
January 17, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28098581/timing-of-pavlik-harness-initiation-can-we-wait
#13
Jill E Larson, Anay R Patel, Brian Weatherford, Joseph A Janicki
BACKGROUND: Developmental dysplasia of the hip is effectively treated with a Pavlik harness (PH) within the first 6 months of life. Over 80% of unstable hips in the newborn period will naturally stabilize by 2 months of age. If there is no difference in the effectiveness of initiating PH treatment at 1 week compared with 4 weeks of age, waiting may allow the hips to naturally stabilize and avoid treatment. The purpose of this study is to evaluate whether the timing of PH implementation influences its effectiveness in the treatment of developmental dysplasia of the hip...
January 16, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28098576/grafting-and-dental-implantation-in-patients-with-jawbone-cavitation-case-series-and-3-year-follow-up
#14
Ya-Wei Chen, Miguel Simancas-Pallares, Mauro Marincola, Sung-Kiang Chuang
PURPOSE: Jawbone cavitation (BC) is not uncommon and is considered to be related to some cases of unexpected implant displacement into deep jawbone space. Here, a series of cases with BC is described, in which the lesions were accidentally found and successfully treated by bone grafting and dental implantation. METHODS: Thirty-four partially edentulous patients who were found to have BC during dental implant surgeries were included in this study. Alloplast bone substitute (β-tricalcium phosphate) grafting with immediate or staged locking-taper implant placement was performed...
January 16, 2017: Implant Dentistry
https://www.readbyqxmd.com/read/28098492/insomnia-management-in-the-australian-primary-care-setting
#15
Fatema-Tun-Naher Sake, Keith Wong, Delwyn J Bartlett, Bandana Saini
BACKGROUND AND OBJECTIVE: Insomnia is one of the most prevalent and costly sleep disorders presenting in general practice, and when left untreated, has major health consequences. However, studies are limited on how general practitioners respond to this health issue, especially since the reconceptualization of insomnia in DSM 5. Therefore, the aim of this study was to explore how insomnia is diagnosed and treated in Australian general practices. PARTICIPANTS: Twenty-four (54% male) general practitioners were recruited throughout the greater Sydney metropolitan area in New South Wales using the professional network of research team members and snowballing technique...
January 18, 2017: Behavioral Sleep Medicine
https://www.readbyqxmd.com/read/28098436/bringing-3d-tumor-models-to-the-clinic-predictive-value-for-personalized-medicine
#16
REVIEW
Kathrin Halfter, Barbara Mayer
Current decision-guiding algorithms in cancer drug treatment are based on decades of research and numerous clinical trials. For the majority of patients, this data is successfully applied for a systemic disease management. For a number of patients however, treatment stratification according to clinically based risk criteria will not be sufficient. The most effective treatment options are ideally identified prior to the start of clinical drug therapy. This review will discuss the implementation of three-dimensional (3D) cell culture models as a preclinical testing paradigm for the efficacy of clinical cancer treatment...
January 18, 2017: Biotechnology Journal
https://www.readbyqxmd.com/read/28098427/emergence-of-mania-in-two-middle-aged-patients-with-a-history-of-unipolar-treatment-refractory-depression-receiving-vagus-nerve-stimulation
#17
Naji C Salloum, Marie C Walker, Sunil Gangwani, Charles R Conway
OBJECTIVES: We report on two patients who experienced emergence of full manic symptoms while receiving vagal nerve stimulation (VNS). METHODS: Two patients, both with a well-documented and verified history of longstanding unipolar depression, were initiated on VNS for treatment of their severe major depressive episodes. RESULTS: The two patients had emergence of full manic symptoms after 8 and 9 months of VNS, respectively. Manic symptoms were adequately managed with standard treatments (mood stabilizer and electroconvulsive therapy) and VNS was continued in the two subjects for up to 5 years without any further occurrences of manic/hypomanic episodes...
January 18, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28098417/delivery-of-anesthesia-for-children-with-mucopolysaccharidosis-type-iii-sanfilippo-syndrome-a-review-of-86-anesthetics
#18
Marc A Cohen, Grant M Stuart
BACKGROUND: Sanfilippo syndrome (MPS III) is rare, with 97 cases in the United Kingdom between 1988 and 1998. Mucopolysaccharide infiltration of tissues in mucopolysaccharidosis (MPS) causes multi-systemic pathology including difficult airways and cardiac disease. Published anesthesia case reviews of Sanfilippo syndrome have included limited numbers of patients to date. AIM: To identify the perioperative management and complications of anesthesia in children with mucopolysaccharidosis Type III at Great Ormond Street Hospital...
January 18, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28098133/-the-need-of-a-new-integral-approach-to-the-care-of-patient-with-severe-mental-disorder-thirty-years-after-the-psychiatric-reform
#19
Agustín Madoz-Gúrpide, Juan Carlos Ballesteros Martín, Mónica Leira Sanmartín, Ernesto García Yagüe
More than thirty years have passed since the beginning of the psychiatric reform, a period of intense and relevant social, scientific and cultural changes which have directly impacted on mental disorders and their management. Improvement in psychopharmacological treatment, a new model of physician-patient relationship, patient´s empowerment as a key issue and the fight against social stigma related to mental health disorders, changes in clinical governance and health policy, the assistential burden derived from the treatment of less severe pathology in mental health community centers, improvements in teamwork and coordination with other resources involved… are some of the relevant changes which determine the scene of community-based mental health assistance...
January 18, 2017: Revista Española de Salud Pública
https://www.readbyqxmd.com/read/28098121/perspectives-on-hypertension-outcomes-after-single-stage-clearance-of-a-complete-staghorn-renal-calculus
#20
Ranjit Chaudhary, Kulwant Singh, Chirag S Dausage, Nidhi Jain
A 55-year-old male presented, in June 2013, with left flank pain. Investigations revealed a complete staghorn stone. He had undergone two sittings of extracorporeal shock wave lithotripsy (ESWL) in 2008 for left renal stone. One year subsequent to this, he was diagnosed with hypertension and diabetes. The management of complete staghorn stones in a single sitting is a difficult proposition. Percutaneous nephrolithotomy (PCNL) is the gold standard to manage such stones. The patient was subjected to PCNL, and complete clearance was achieved in one sitting...
January 2017: Saudi Journal of Kidney Diseases and Transplantation
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