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https://www.readbyqxmd.com/read/27910803/the-prognostic-and-predictive-value-of-tmprss2-erg-gene-fusion-and-erg-protein-expression-in-prostate-cancer-biopsies
#1
Kasper Drimer Berg
BACKGROUND: The clinical course of prostate carcinoma (PCa) is very heterogeneous. Consequently, a personalised approach for risk stratification and treatment planning is important. Recently, it has become evident that PCa, also at the genomic level, is heterogeneous. An early and common alteration is the gene fusion between the transmembrane protease serine 2 (TMPRSS2) gene and the v-ets avian erythroblastosis virus E26 oncogene homolog (ERG) gene resulting in expression of the oncoprotein ERG...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27910166/anchored-multiplex-pcr-for-targeted-next-generation-sequencing-reveals-recurrent-and-novel-usp6-fusions-and-upregulation-of-usp6-expression-in-aneurysmal-bone-cyst
#2
Natalya V Guseva, Omar Jaber, Munir R Tanas, Aaron A Stence, Ramakrishna Sompallae, Jenna Schade, Allison N Fillman, Benjamin J Miller, Aaron D Bossler, Deqin Ma
Primary aneurysmal bone cyst (ABC) is a neoplastic process due to recurrent translocations involving the USP6 gene. By fluorescence in situ hybridization, up to 69% of primary ABCs harbored USP6 translocations; no USP6 translocation was found in secondary ABC or giant cell tumor of bone (GCT). GCT can recur locally, metastasize to the lungs in some cases, and rarely undergo malignant transformation. Differentiating primary ABC from its mimics is important for treatment and prognosis. We evaluated USP6 fusion and expression in 13 cases of primary and 1 case of secondary ABC, and 9 cases of GCT using nucleic acid extracted from formalin-fixed, paraffin-embedded tissue and a next generation sequencing (NGS)-based assay...
November 7, 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/27906414/delphi-consensus-on-attention-deficit-hyperactivity-disorder-adhd-evaluation-by-a-panel-of-experts
#3
Amaia Hervás, Teresa de Santos, Javier Quintero, Pedro M Ruíz-Lázaro, José A Alda, Alberto Fernández-Jaén, Josep A Ramos-Quiroga
INTRODUCTION: Attention Deficit Hyperactivity Disorder (ADHD) is one of the most prevalent neurodevelopmental disorders in childhood, which is frequently maintained in adolescent and adult age. It presents great clinical heterogeneity, significantly affecting the functioning of those who suffer it. Although drug treatments obtain results by themselves, the approach should be multidisciplinary and be adapted to the specific needs of each patient and his/ her family. Given the variety of drugs currently available to treat ADHD, there are diverse opinions on the most effective way to approach this disorder...
November 2016: Actas Españolas de Psiquiatría
https://www.readbyqxmd.com/read/27901085/wide-variation-in-susceptibility-of-transmitted-founder-hiv-1-subtype-c-isolates-to-protease-inhibitors-and-association-with-in-vitro-replication-efficiency
#4
Katherine A Sutherland, Dami A Collier, Daniel T Claiborne, Jessica L Prince, Martin J Deymier, Richard A Goldstein, Eric Hunter, Ravindra K Gupta
The gag gene is highly polymorphic across HIV-1 subtypes and contributes to susceptibility to protease inhibitors (PI), a critical class of antiretrovirals that will be used in up to 2 million individuals as second-line therapy in sub Saharan Africa by 2020. Given subtype C represents around half of all HIV-1 infections globally, we examined PI susceptibility in subtype C viruses from treatment-naïve individuals. PI susceptibility was measured in a single round infection assay of full-length, replication competent MJ4/gag chimeric viruses, encoding the gag gene and 142 nucleotides of pro derived from viruses in 20 patients in the Zambia-Emory HIV Research Project acute infection cohort...
November 30, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27901077/very-rapid-long-distance-sea-crossing-by-a-migratory-bird
#5
José A Alves, Maria P Dias, Verónica Méndez, Borgný Katrínardóttir, Tómas G Gunnarsson
Landbirds undertaking within-continent migrations have the possibility to stop en route, but most long-distance migrants must also undertake large non-stop sea crossings, the length of which can vary greatly. For shorebirds migrating from Iceland to West Africa, the shortest route would involve one of the longest continuous sea crossings while alternative, mostly overland, routes are available. Using geolocators to track the migration of Icelandic whimbrels (Numenius phaeopus), we show that they can complete a round-trip of 11,000 km making two non-stop sea crossings and flying at speeds of up to 24 m s(-1); the fastest recorded for shorebirds flying over the ocean...
November 30, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27895882/primary-pleural-synovial-sarcoma-with-metastatic-cardiac-involvement-a-case-report
#6
Ji-Hye Won, Susie Chin, Jai Soung Park, Sang Hyun Paik, Heon Lee, Jang Gyu Cha, Hwa Kyoon Shin, Eun Suk Koh
Primary pleuropulmonary synovial sarcomas are rare soft tissue malignancies; combined metastatic involvement of the heart is extremely rare. In this case report, a 17-year-old female presented with a history of chest pain. Chest radiographs revealed a round mass in the left upper hemithorax, and computed tomography (CT) showed a well-defined heterogeneous enhancing mass abutting the pleura. A core needle biopsy revealed malignant spindle cells. Surgical resection was performed, and a final diagnosis of primary pleural synovial sarcoma, monophasic fibrous type, was made...
October 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
https://www.readbyqxmd.com/read/27894917/incidence-of-breast-implant-rupture-in-a-12-year-retrospective-cohort-evidence-of-quality-discrepancy-depending-on-the-range
#7
Frédéric Seigle-Murandi, François Lefebvre, Catherine Bruant-Rodier, Frédéric Bodin
BACKGROUND & OBJECTIVE: The majority of studies assessing the rupture rate of breast implants were performed by the breast implant manufacturing industry with questionable independence. After repetitive removals of ruptured implants from the same model, our team decided to assess the rupture rate and the estimated risk thereof for most of the silicone gel-filled implants we have used since they regained market approval in France in 2001. METHODS: Our study is a retrospective cohort of 809 patients operated in our University Hospital from 2001 to 2013 for cosmetic or reconstructive goals...
November 10, 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/27892996/technique-standards-for-skin-lesion-imaging-a-delphi-consensus-statement
#8
Chinmayee Katragadda, Anna Finnane, H Peter Soyer, Ashfaq A Marghoob, Allan Halpern, Josep Malvehy, Harald Kittler, Rainer Hofmann-Wellenhof, Dennis Da Silva, Ivo Abraham, Clara Curiel-Lewandrowski
Importance: Variability in the metrics for image acquisition at the total body, regional, close-up, and dermoscopic levels impacts the quality and generalizability of skin images. Consensus guidelines are indicated to achieve universal imaging standards in dermatology. Objective: To achieve consensus among members of the International Skin Imaging Collaboration (ISIC) on standards for image acquisition metrics using a hybrid Delphi method. Evidence Review: Delphi study with 5 rounds of ratings and revisions until relative consensus was achieved...
November 23, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27892224/good-hand-hygiene-is-essential
#9
Shan Moses
During a second-year placement on a 25-bed medical ward, I attended a ward round with a medical consultant and his team, to observe how they assessed patients and decided on a care plan. The team was made up of seven staff members, including four junior doctors. They saw about 13 patients on our ward before heading to other wards.
November 23, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27888867/colorectal-cancer-screening
#10
Xavier Bessa Caserras
In the latest meeting of the American Gastroenterological Association, several clinical studies were presented that aimed to evaluate the various colorectal cancer screening strategies, although most assessed the various aspects of faecal immunochemical testing (FIT) and colonoscopy. Data were presented from consecutive FIT-based screening rounds, confirming the importance of adherence to consecutive screening rounds, achieving a similar or superior diagnostic yield to endoscopic studies. There was confirmation of the importance of not delaying endoscopic study after a positive result...
September 2016: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/27885980/a-revision-surgery-for-cochlear-implantation-in-a-case-of-incomplete-partition-type-i
#11
Habib G Rizk, Francesca Hagood, Meredith A Holcomb, Ted A Meyer
BACKGROUND: Patients with cochlear malformations were long considered poor candidates for cochlear implantation (CI), and surgical approaches different than the standard facial recess approach were used to access the inner ear. There is no previous long-term follow-up of a patient with significantly malformed inner ear operated through an untraditional route and requiring a revision surgery. PURPOSE: This case provides a long-term follow-up from the initial surgery, a short-term follow-up from the revision surgery, and it illustrates the evolving classification of inner ear malformations as well as the potential problems associated with nonstandard approaches to the cochlea...
November 2016: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/27880748/cdc-grand-rounds-family-history-and-genomics-as-tools-for-cancer-prevention-and-control
#12
Juan L Rodriguez, Cheryll C Thomas, Greta M Massetti, Debra Duquette, Lindsay Avner, John Iskander, Muin J Khoury, Lisa C Richardson
Although many efforts in cancer prevention and control have routinely focused on behavioral risk factors, such as tobacco use, or on the early detection of cancer, such as colorectal cancer screening, advances in genetic testing have created new opportunities for cancer prevention through evaluation of family history and identification of cancer-causing inherited mutations. Through the collection and evaluation of a family cancer history by a trained health care provider, patients and families at increased risk for a hereditary cancer syndrome can be identified, referred for genetic counseling and testing, and make informed decisions about options for cancer risk reduction (1)...
November 25, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27879614/getting-a-better-look-outcomes-of-laparoscopic-versus-transdiaphragmatic-pericardial-window-for-penetrating-thoracoabdominal-trauma-at-a-level-i-trauma-center
#13
Jamie E Anderson, Edgardo S Salcedo, Kacie M Rounds, Joseph M Galante
BACKGROUND: In penetrating thoracoabdominal trauma, it is necessary to evaluate both the pericardial fluid and the diaphragm directly. Transdiaphragmatic pericardial windows (TDWs) provide direct access to the pericardium and diaphragm but expose the patient to the risks of laparotomy. We hypothesize that transabdominal laparoscopic pericardial windows (LPWs) are a safe and effective alternative to TDWs in stable patients. METHODS: This is a retrospective observational study of stable patients with thoracoabdominal penetrating trauma at a level I trauma center between January 2007 and June 2015, comparing outcomes after TDW versus LPW...
December 2016: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/27876901/nematodes-ultrastructure-complex-systems-and-processes
#14
REVIEW
Maha M A Basyoni, Enas M A Rizk
Nematode worms are among the most ubiquitous organisms on earth. They include free-living forms as well as parasites of plants, insects, humans and other animals. Recently, there has been an explosion of interest in nematode biology, including the area of nematode ultrastructure. Nematodes are round with a body cavity. They have one way guts with a mouth at one end and an anus at the other. They have a pseudocoelom that is lined on one side with mesoderm and on the other side with endoderm. It appears that the cuticle is a very complex and evolutionarily plastic feature with important functions involving protection, body movement and maintaining shape...
December 2016: Journal of Parasitic Diseases: Official Organ of the Indian Society for Parasitology
https://www.readbyqxmd.com/read/27875641/saving-science-by-doing-less-of-it
#15
Gregory E Kaebnick
In the current issue of The New Atlantis, Daniel Sarewitz, professor of science and society at Arizona State University, argues that science is broken because it is managed and judged by scientists themselves, operating under Vannevar Bush's famous 1945 declaration that scientific progress depends on the "free play of free intellects … dictated by their curiosity." With that scientific agenda, society ends up with a lot of unnecessary, uncoordinated, and unproductive research. To save science, holds Sarewitz, we need to put it in the hands of people who are looking for practical solutions to specific problems...
November 2016: Hastings Center Report
https://www.readbyqxmd.com/read/27873538/the-effects-of-elevated-hearing-thresholds-on-performance-in-a-paintball-simulation-of-individual-dismounted-combat
#16
Benjamin Sheffield, Douglas Brungart, Jennifer Tufts, James Ness
OBJECTIVE: To examine the relationship between hearing acuity and operational performance in simulated dismounted combat. DESIGN: Individuals wearing hearing loss simulation systems competed in a paintball-based exercise where the objective was to be the last player remaining. Four hearing loss profiles were tested in each round (no hearing loss, mild, moderate and severe) and four rounds were played to make up a match. This allowed counterbalancing of simulated hearing loss across participants...
November 22, 2016: International Journal of Audiology
https://www.readbyqxmd.com/read/27871163/a-case-of-endoscopically-complete-remission-of-esophageal-neuroendocrine-tumors-by-concurrent-chemoradiation-therapy
#17
Myung Hee Kim, Hyun Yong Jeong, Jae Kyu Seong, Hee Seok Moon, Sun Hyung Kang, Duk Ki Kim
Neuroendocrine tumors (NETs) of the esophagus are extremely rare, aggressive and have a poor prognosis. Combined therapy using chemotherapy, radiotherapy and/or surgery appear effective. Here, we present a patient with a complaint of dysphagia who was diagnosed with this rare tumor. Upper gastrointestinal endoscope of a 46-year-old female revealed a localized ulcerative lesion in the middle esophagus. Histologic exam of biopsy specimens indicated a neuroendocrine carcinoma. The tumor cells were arranged in microtubular structures, with small and round cells containing scanty cytoplasm...
November 25, 2016: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
https://www.readbyqxmd.com/read/27864440/clinical-round-up
#18
EDITORIAL
Lewis Haddow, Sophie Herbert
No abstract text is available yet for this article.
December 2016: Sexually Transmitted Infections
https://www.readbyqxmd.com/read/27863505/a-genomic-case-study-of-desmoplastic-small-round-cell-tumor-comprehensive-analysis-reveals-insights-into-potential-therapeutic-targets-and-development-of-a-monitoring-tool-for-a-rare-and-aggressive-disease
#19
Elisa Napolitano Ferreira, Bruna Durães Figueiredo Barros, Jorge Estefano de Souza, Renan Valieris Almeida, Giovana Tardin Torrezan, Sheila Garcia, Ana Cristina Victorino Krepischi, Celso Abdon Lopes de Mello, Isabela Werneck da Cunha, Clóvis Antonio Lopes Pinto, Fernando Augusto Soares, Emmanuel Dias-Neto, Ademar Lopes, Sandro José de Souza, Dirce Maria Carraro
BACKGROUND: Genome-wide profiling of rare tumors is crucial for improvement of diagnosis, treatment, and, consequently, achieving better outcomes. Desmoplastic small round cell tumor (DSRCT) is a rare type of sarcoma arising from mesenchymal cells of abdominal peritoneum that usually develops in male adolescents and young adults. A specific translocation, t(11;22)(p13;q12), resulting in EWS and WT1 gene fusion is the only recurrent molecular hallmark and no other genetic factor has been associated to this aggressive tumor...
November 18, 2016: Human Genomics
https://www.readbyqxmd.com/read/27861499/maternal-filarial-infection-influences-the-development-of-regulatory-t-cells-in-children-from-infancy-to-early-childhood
#20
Madhusmita Bal, Manoranjan Ranjit, K Gopinath Achary, Ashok K Satapathy
BACKGROUND: Children born from filarial infected mothers are comparatively more susceptible to filarial infection than the children born to uninfected mothers. But the mechanism of such increased susceptibility to infection in early childhood is not exactly known. Several studies have shown the association of active filarial infection with T cell hypo-responsiveness which is mediated by regulatory T cells (Tregs). Since the Tregs develop in the thymus from CD4+ CD25hi thymocytes at an early stage of the human fetus, it can be hypothesized that the maternal infection during pregnancy affects the development of Tregs in children at birth as well as early childhood...
November 2016: PLoS Neglected Tropical Diseases
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