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https://www.readbyqxmd.com/read/28454383/fam53b-truncation-caused-by-t-10-19-q26-q13-chromosome-translocation-in-acute-lymphoblastic-leukemia
#1
Ioannis Panagopoulos, Ludmila Gorunova, Synne Torkildsen, Anne Tierens, Sverre Heim, Francesca Micci
RNA-sequencing of the patient's bone marrow detected fusion transcripts in which the coding sequence of the FAM53B gene (from 10q26) was fused to a genomic sequence (from 19q13) that mapped upstream of the SLC7A10 locus. Reverse transcription-polymerase chain reaction together with Sanger sequencing verified the presence of this fusion transcript. The FAM53B fusion transcript is not expected to produce any chimeric protein. However, it may code for a truncated FAM53B protein consisting of the first 302 amino acids of FAM53B together with amino acids from the 19q13 sequence...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454368/anti-osteoclastic-agent-denosumab-for-a-giant-cell-tumor-of-the-bone-with-concurrent-paget-s-disease-a-case-report
#2
Takaaki Tanaka, John Slavin, Sue-Anne McLachlan, Peter Choong
Paget's disease of the bone may predispose the development of malignant bone tumors such as osteosarcoma. Giant cell tumor (GCT) as a consequence of Paget's disease is rare. Bone GCT is characterized by rapid growth, the destruction of bone, extension to the surrounding soft tissue and abnormal bone turnover caused by an abnormality of the receptor activator of nuclear factor-κB (RANK)-RANK ligand (RANKL) pathway. Denosumab is a RANK-RANKL inhibitor, which is used to treat osteoporosis and bone GCT. In the current study, a 60-year-old male presented with severe pain located between the right thigh and the knee...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454328/reconstruction-of-mandibular-defects-with-autogenous-bone-and-decellularized-bovine-bone-grafts-with-freeze-dried-bone-marrow-stem-cell-paracrine-factors
#3
Ann Kakabadze, Konstantine Mardaleishvili, George Loladze, Lia Karalashvili, Gocha Chutkerashvili, David Chakhunashvili, Zurab Kakabadze
The gold standard following segmental mandibulectomy is vascularized autologous bone graft in the form of the fibula flap. However, in bone reconstruction the use of autogenous bone does not always guarantee a successful outcome. The aim of the present investigation was to develop a novel biologically active bone (BAB) graft, and to use it for the reconstruction of large size defects of the mandible bone following tumor resection. In the first part of the present study, biologically active bone graft was developed by using human freeze-dried bone marrow stem cells (BMSCs) paracrine factors and three-dimensional bone scaffold derived from cancellous bovine bone following decellularization...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454217/paraganglioma-of-the-organ-of-zuckerkandl-associated-with-a-somatic-hif2%C3%AE-mutation-a-case-report
#4
Ahmad Esmaeel Abdullah, Carole Guerin, Alessio Imperiale, Anne Barlier, Stéphanie Battini, Morgane Pertuit, Philippe Roche, Wassim Essamet, Bernard Vaisse, Karel Pacak, Fréderic Sebag, David Taïeb
Paragangliomas of the organ of Zuckerkandl (OZ-PGL) are rare tumors that, in >70% of cases, occur in association with succinate dehydrogenase complex iron sulfur subunit B (SDHB) or SDHD gene mutations. The aim of the current study was to determine whether a somatic genetic defect in the hypoxia-inducible factor 2α (HIF2α) gene was present in a case of sporadic OZ-PGL. A 32-year-old African female presented with uncontrolled hypertension during the first trimester of pregnancy. A diagnostic hysteroscopy was performed 3 months after delivery, precipitating a hypertensive crisis...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454119/anti-proliferative-and-anti-secretory-effects-of-everolimus-on-human-pancreatic-neuroendocrine-tumors-primary-cultures-is-there-any-benefit-from-combination-with-somatostatin-analogs
#5
Amira Mohamed, David Romano, Alexandru Saveanu, Catherine Roche, Manuela Albertelli, Federica Barbieri, Thierry Brue, Patricia Niccoli, Jean-Robert Delpero, Stephane Garcia, Diego Ferone, Tullio Florio, Vincent Moutardier, Flora Poizat, Anne Barlier, Corinne Gerard
Therapeutic management of gastroenteropancreatic neuroendocrine tumors (GEP-NETs) is challenging. The mammalian target of rapamycin (mTOR) inhibitor everolimus recently obtained approval from the Food and Drug Administration for the treatment of patients with advanced pancreatic neuroendocrine tumors (pNETs). Despite its promising antitumor efficacy observed in cell lines, clinical benefit for patients is unsatisfactory. The limited therapeutic potential of everolimus in cancer cells has been attributed to Akt activation due to feedback loops relief following mTOR inhibition...
April 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28453925/pkc%C3%AE-is-a-target-of-7-8-4-trihydroxyisoflavone-for-the-suppression-of-uvb-induced-mmp-1-expression
#6
Tae-Gyu Lim, Yoon-A Kim, Jong-Eun Kim, Sohee Baek, Sung-Young Lee, Charles C Lee, Hanyong Chen, Jong Rhan Kim, Jung Yeon Kwon, Ann M Bode, Chang Yong Lee, Zigang Dong, Deok-Kun Oh, Jun Seong Park, Ki Won Lee
No abstract text is available yet for this article.
April 28, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28453835/herpes-simplex-virus-type-2-acquisition-among-hiv-1-infected-adults-treated-with-tenofovir-disoproxyl-fumarate-as-part-of-combination-antiretroviral-therapy-results-from-the-actg-a5175-pearls-study
#7
Connie Celum, Ting Hong, Anne Cent, Deborah Donnell, Rhoda Morrow, Jared M Baeten, Cynthia Firnhaber, Beatriz Grinsztejn, Mina C Hosseinipour, Umesh Lalloo, Mulinda Nyirenda, Cynthia Riviere, Jorge Sanchez, Breno Santos, Khuanchai Supparatpinyo, James Hakim, N Kumarasamy, Thomas B Campbell
Objective.: Tenofovir disoproxyl fumarate (TDF) disoproxyl fumarate (TDF) has in vitro activity against herpes simplex virus type 2 (HSV-2) and reduced HSV-2 acquisition as preexposure prophylaxis. Whether TDF-containing antiretroviral therapy (ART) reduces HSV-2 acquisition is unknown. Design.: Secondary analysis of AIDS Clinical Trials Group A5175, a randomized, open-label study of 3 ART regimens among 1571 participants. Methods.: HSV-2 serostatus was assessed at baseline, at study exit, and before a change in ART regimen...
March 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28453795/closing-the-gap-in-paediatric-ventricular-assist-device-therapy-with-the-berlin-heart-excor%C3%A2-15-ml-pump%C3%A2
#8
Fabrizio De Rita, Massimo Griselli, Eugen Sandica, Oliver Miera, Ann Karimova, Yves d'Udekem, Ranny Goldwasser, Katarzyna Januszewska, Antonio Amodeo, Nadine Jurrmann, Simon Ersel, Ares K Menon
OBJECTIVES: The Berlin Heart EXCOR ® (EXCOR) paediatric ventricular assist device is used worldwide for mechanical support of infants and small children with end-stage heart failure. A clinically important gap between the smallest EXCOR blood pump (10 ml) and the next larger size (25 ml) limited the choice of pump size in patients with a body surface area (BSA) between 0.33 and 0.5 m 2 . We present the first clinical experience from the early product surveillance (EPS) of the new EXCOR 15-ml blood pump...
May 1, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28453747/natural-course-and-prognosis-of-anaplastic-gangliogliomas-a-multicenter-retrospective-study-of-43-cases-from-the-french-brain-tumor-database
#9
Louis-Marie Terrier, Luc Bauchet, Valérie Rigau, Aymeric Amelot, Sonia Zouaoui, Isabelle Filipiak, Agnès Caille, Fabien Almairac, Marie-Hélène Aubriot-Lorton, Anne-Marie Bergemer-Fouquet, Eric Bord, Philippe Cornu, Alain Czorny, Phong Dam Hieu, Bertrand Debono, Marie-Bernadette Delisle, Evelyne Emery, Walid Farah, Guillaume Gauchotte, Catherine Godfraind, Jacques Guyotat, Bernard Irthum, Kevin Janot, Pierre-Jean Le Reste, Dominique Liguoro, Hugues Loiseau, Guillaume Lot, Vincent Lubrano, Emmanuel Mandonnet, Philippe Menei, Philippe Metellus, Serge Milin, Bertrand Muckenstrum, Pierre-Hugues Roche, Audrey Rousseau, Emmanuelle Uro-Coste, Anne Vital, Jimmy Voirin, Michel Wager, Marc Zanello, Patrick François, Stéphane Velut, Pascale Varlet, Dominique Figarella-Branger, Johan Pallud, Ilyess Zemmoura
Background.: Anaplastic gangliogliomas (GGGs) are rare tumors whose natural history is poorly documented. We aimed to define their clinical and imaging features and to identify prognostic factors. Methods.: Consecutive cases of anaplastic GGGs in adults prospectively entered into the French Brain Tumor Database between March 2004 and April 2014 were screened. After diagnosis was confirmed by pathological review, clinical, imaging, therapeutic, and outcome data were collected retrospectively...
May 1, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28453728/cardiac-mglur1-metabotropic-receptors-in-cardioprotection
#10
Anne Vincent, Catherine Sportouch, Aurélie Covinhes, Christian Barrère, Laura Gallot, Viviana Delgado-Betancourt, Benoît Lattuca, Kamila Solecki, Prisca Boisguérin, Christophe Piot, Joël Nargeot, Stéphanie Barrère-Lemaire
Aims: In a previous study using a genome-wide microarray strategy, we identified metabotropic glutamate receptor 1 (mGluR1) as a putative cardioprotective candidate in ischaemic postconditioning (PostC). In the present study, we investigated the role of cardiac mGluR1 receptors during cardioprotection against myocardial ischaemia-reperfusion injury in the mouse myocardium. Methods and results: mGluR1 activation by glutamate administered 5 min before reperfusion in C57Bl/6 mice subjected to a myocardial ischaemia protocol strongly decreased both infarct size and DNA fragmentation measured at 24 h reperfusion...
May 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28453655/multiple-old-ages-the-influence-of-social-context-on-women-s-aging-anxiety
#11
Anne E Barrett, Erica L Toothman
Objectives: Dominant views of aging generate anxiety for many adults-especially women, who face greater disadvantages in later life compared with men. However, little is known about changes in these concerns over time and their variation across women. Employing a feminist perspective on age relations, our study examines three social contexts affecting women's aging anxiety-social location, health, and social relationships. Method: Using a sample of women (n = 905) from Midlife in the United States (1995-1996; 2004-2006), logistic regression models examine predictors of over-time patterns in three aging anxiety sources-declining attractiveness, declining health, and reproductive aging...
April 27, 2017: Journals of Gerontology. Series B, Psychological Sciences and Social Sciences
https://www.readbyqxmd.com/read/28453650/plantismash-automated-identification-annotation-and-expression-analysis-of-plant-biosynthetic-gene-clusters
#12
Satria A Kautsar, Hernando G Suarez Duran, Kai Blin, Anne Osbourn, Marnix H Medema
Plant specialized metabolites are chemically highly diverse, play key roles in host-microbe interactions, have important nutritional value in crops and are frequently applied as medicines. It has recently become clear that plant biosynthetic pathway-encoding genes are sometimes densely clustered in specific genomic loci: biosynthetic gene clusters (BGCs). Here, we introduce plantiSMASH, a versatile online analysis platform that automates the identification of candidate plant BGCs. Moreover, it allows integration of transcriptomic data to prioritize candidate BGCs based on the coexpression patterns of predicted biosynthetic enzyme-coding genes, and facilitates comparative genomic analysis to study the evolutionary conservation of each cluster...
April 27, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28453635/peak-bone-mass-and-bone-microarchitecture-in-adults-born-with-low-birth-weight-preterm-or-at-term-a-cohort-study
#13
Chandima Balasuriya, Kari Anne I Evensen, Mats P Mosti, Ann-Mari Brubakk, Geir W Jacobsen, Marit S Indredavik, Berit Schei, Astrid Kamilla Stunes, Unni Syversen
Context and objectives: Peak bone mass (PBM) is regarded as the most important determinant of osteoporosis. Growing evidence suggests a role of intrauterine programming in skeletal development. We examined PBM and trabecular bone score (TBS) in adults born preterm with very low birth weight (VLBW) or small for gestational age (SGA) at term compared with term-born controls. Design, setting, participants and outcomes: This follow-up cohort study included 186 men and women (25-28 years); 52 preterm VLBW (≤ 1500g), 59 term-born SGA (< 10th percentile), and 75 controls (>10th percentile)...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28453633/role-of-dna-gyrase-and-topoisomerase-iv-mutations-in-fluoroquinolone-resistance-of-capnocytophaga-spp-clinical-isolates-and-laboratory-mutants
#14
Elodie Ehrmann, Anne Jolivet-Gougeon, Martine Bonnaure-Mallet, Thierry Fosse
Objectives: Capnocytophaga spp. are often reported to cause bacteraemia and extra-oral infections and are characterized by their significant contribution to resistance to β-lactam and macrolide-lincosamide-streptogramin antibiotics in the human oral microbiota. The implication of mutations in the quinolone resistance-determining region (QRDR) of DNA gyrase A and B ( gyrA and gyrB ) and topoisomerase IV ( parC and parE ) of fluoroquinolone (FQ)-resistant Capnocytophaga spp., hitherto unknown, was explored in this study...
April 26, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28453626/protocol-to-monitor-trade-agreement-food-related-aspects-the-fiji-case-study
#15
Amerita Ravuvu, Sharon Friel, Anne Marie Thow, Wendy Snowdon, Jillian Wate
Despite the growing rates of obesity and diet-related non-communicable diseases, globally, public health attention has only relatively recently turned to the links between trade agreements and the nutritional risks associated with it. Specific trade agreements appear to have played an influential role in the volume and types of foods entering different countries, yet there is currently no systematic and objective monitoring of trade agreements for their impacts on food environments. Recently, INFORMAS was set up to monitor and benchmark food environments, government policies and private sector actions within countries and globally...
April 26, 2017: Health Promotion International
https://www.readbyqxmd.com/read/28453601/time-spent-commuting-to-work-and-mental-health-evidence-from-13-waves-of-an-australian-cohort-study
#16
Allison Milner, Hannah Badland, Anne Kavanagh, Anthony D LaMontagne
Time-related stressors, such as long working hours, are recognized as being detrimental to health. We considered whether time spent commuting to work was a risk factor for poor mental health. Data from the Household, Income Labour Dynamics in Australia Survey were used to conduct fixed-effects longitudinal regression analyses. The outcome variable was the Mental Health Inventory, and the main exposure represented hours per week traveling to and from a place of paid employment. Effect modifiers included sex, low job control, high demands, and low job security...
April 27, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28453524/peripheral-huntingtin-silencing-does-not-ameliorate-central-signs-of-disease-in-the-b6-httq111-mouse-model-of-huntington-s-disease
#17
Sydney R Coffey, Robert M Bragg, Shawn Minnig, Seth A Ament, Jeffrey P Cantle, Anne Glickenhaus, Daniel Shelnut, José M Carrillo, Dominic D Shuttleworth, Julie-Anne Rodier, Kimihiro Noguchi, C Frank Bennett, Nathan D Price, Holly B Kordasiewicz, Jeffrey B Carroll
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease whose predominant neuropathological signature is the selective loss of medium spiny neurons in the striatum. Despite this selective neuropathology, the mutant protein (huntingtin) is found in virtually every cell so far studied, and, consequently, phenotypes are observed in a wide range of organ systems both inside and outside the central nervous system. We, and others, have suggested that peripheral dysfunction could contribute to the rate of progression of striatal phenotypes of HD...
2017: PloS One
https://www.readbyqxmd.com/read/28453495/constructing-an-outcome-measure-of-occupational-experience-an-application-of-rasch-measurement-methods
#18
Brett Berg, Karen Atler, Anne G Fisher
Rasch methods were used to evaluate and further develop the Daily Experiences of Pleasure, Productivity, and Restoration Profile (PPR Profile) into a health outcome measure of occupational experience. Analyses of 263 participant PPR Profiles focused on rating scale structure, dimensionality, and reliability. All rating scale categories increased with the intended meaning of the scales, but only 20 of the 21 category measures fit the Rasch rating scale model (RRSM). Several items also did not fit the RRSM and results of residual principal components analyses suggested possible second dimensions in each scale...
2017: Journal of Applied Measurement
https://www.readbyqxmd.com/read/28453487/neuropsychiatric-symptoms-and-alzheimer-s-disease-biomarkers-predict-driving-decline-brief-report
#19
Ganesh M Babulal, Sarah H Stout, Denise Head, David M Holtzman, Anne M Fagan, John C Morris, Catherine M Roe
We examined whether neuropsychiatric symptoms (NPS) interact with cerebrospinal fluid (CSF) biomarkers (amyloid-β42 [Aβ42], tau, phosphorylated tau181 [ptau181], tau/Aβ42, and ptau181/Aβ42) of Alzheimer's disease pathology to predict driving decline among cognitively-normal older adults (N = 116) aged ≥65. Cox proportional hazards models examined time to receiving a rating of marginal or fail on the driving test. Age, education, and gender were adjusted in the models. Participants with more abnormal CSF (Aβ42, tau/Aβ42, ptau181/Aβ42) and NPS were faster to receive a marginal/fail on the road test compared to those without NPS...
April 28, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28453474/neuropsychological-profile-in-the-c9orf72-associated-behavioral-variant-frontotemporal-dementia
#20
Noora-Maria Suhonen, Ramona M Haanpää, Ville Korhonen, Jari Jokelainen, Anni Pitkäniemi, Anna-Leena Heikkinen, Johanna Krüger, Päivi Hartikainen, Seppo Helisalmi, Mikko Hiltunen, Tuomo Hänninen, Anne M Remes
While the C9ORF72 expansion is a major cause of behavioral variant frontotemporal dementia (bvFTD), little is known of the resultant cognitive profile. Our aim was to characterize the neuropsychological profile of the C9ORF72 associated bvFTD. We contrasted structured neuropsychological assessments of the C9ORF72 expansion carrier bvFTD patients (n = 26) with non-carrier bvFTD patients (n = 47) and those with Alzheimer's disease (AD) (n = 47). As compared to the non-carrier bvFTD patients, the C9ORF72 expansion carriers performed at a higher level in an immediate verbal memory test while showing poorer phonemic verbal fluency...
April 28, 2017: Journal of Alzheimer's Disease: JAD
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