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https://www.readbyqxmd.com/read/28423363/multiple-gene-panel-analysis-in-a-case-series-of-255-women-with-hereditary-breast-and-ovarian-cancer
#1
Gianluca Tedaldi, Michela Tebaldi, Valentina Zampiga, Rita Danesi, Valentina Arcangeli, Mila Ravegnani, Ilaria Cangini, Francesca Pirini, Elisabetta Petracci, Andrea Rocca, Fabio Falcini, Dino Amadori, Daniele Calistri
As new genes predisposing to breast (BC) and ovarian cancer (OC) are constantly emerging, the use of panels of genes analyzed by Next-Generation Sequencing (NGS) is increasing in clinical diagnostics. The identification of a large number of new germline mutations allows for deeper knowledge of cancer predisposition, although raising many questions about patient management.BC and OC patients recruited by our counseling service between 2012-2015 were included in this study. DNA was extracted from peripheral blood and a panel of 94 genes involved in hereditary tumors was analyzed by NGS...
April 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422014/palliative-care-in-humanitarian-crises-always-something-to-offer
#2
Richard A Powell, Lisa Schwartz, Elysée Nouvet, Brett Sutton, Mila Petrova, Joan Marston, Daniel Munday, Lukas Radbruch
No abstract text is available yet for this article.
April 15, 2017: Lancet
https://www.readbyqxmd.com/read/28402063/reproductive-performance-and-pre-weaning-mortality-preliminary-analysis-of-27-221-purebred-female-dogs-and-204-537-puppies-in-france
#3
S Chastant-Maillard, C Guillemot, A Feugier, C Mariani, A Grellet, H Mila
The objective of this study was to describe efficiency of reproduction of purebred dogs in field breeding conditions, from mating to weaning in France. Data were collected between 2010 and 2014 in 5,667 French breeding kennels via a reproduction management software (Breeding Management System, Royal Canin, Aimargues, France). Effect of breed size (Mini: adult body weight <10 kg; Medium: 10-25 kg; Maxi: 25-40 kg; Giant: >40 kg), age of dam and male on pregnancy rate, abortion rate and litter size were evaluated by multivariable models...
April 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28398739/precipitate-coacervate-transformation-in-polyelectrolyte-mixed-micelle-systems
#4
Fatih Comert, Duy Nguyen, Marguerite Rushanan, Peker Milas, Amy Y Xu, Paul L Dubin
The polycation/anionic-nonionic mixed micelle, poly(diallyldimethylammonium chloride)-sodium dodecyl sulfate/Triton X-100 (PDADMAC-SDS/TX100), is a model polyelectrolyte-colloid system in that the micellar mole fraction of SDS (Y) controls the micelle surface charge density, thus modulating the polyelectrolyte-colloid interaction. The exquisite temperature dependence of this system provides an important additional variable, controlling both liquid-liquid (L-L) and liquid-solid (L-S) phase separation, both of which are driven by the entropy of small ion release...
April 19, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28398230/integrating-spherical-panoramas-and-maps-for-visualization-of-cultural-heritage-objects-using-virtual-reality-technology
#5
Mila Koeva, Mila Luleva, Plamen Maldjanski
Development and virtual representation of 3D models of Cultural Heritage (CH) objects has triggered great interest over the past decade. The main reason for this is the rapid development in the fields of photogrammetry and remote sensing, laser scanning, and computer vision. The advantages of using 3D models for restoration, preservation, and documentation of valuable historical and architectural objects have been numerously demonstrated by scientists in the field. Moreover, 3D model visualization in virtual reality has been recognized as an efficient, fast, and easy way of representing a variety of objects worldwide for present-day users, who have stringent requirements and high expectations...
April 11, 2017: Sensors
https://www.readbyqxmd.com/read/28386436/a-novel-locus-on-chromosome-1-underlies-the-evolution-of-a-melanic-plumage-polymorphism-in-a-wild-songbird
#6
Yann X C Bourgeois, Boris Delahaie, Mathieu Gautier, Emeline Lhuillier, Pierre-Jean G Malé, Joris A M Bertrand, Josselin Cornuault, Kazumasa Wakamatsu, Olivier Bouchez, Claire Mould, Jade Bruxaux, Hélène Holota, Borja Milá, Christophe Thébaud
Understanding the mechanisms responsible for phenotypic diversification within and among species ultimately rests with linking naturally occurring mutations to functionally and ecologically significant traits. Colour polymorphisms are of great interest in this context because discrete colour patterns within a population are often controlled by just a few genes in a common environment. We investigated how and why phenotypic diversity arose and persists in the Zosterops borbonicus white-eye of Reunion (Mascarene archipelago), a colour polymorphic songbird in which all highland populations contain individuals belonging to either a brown or a grey plumage morph...
February 2017: Royal Society Open Science
https://www.readbyqxmd.com/read/28379349/enterovirus-d68-infection-among-children-with-medically-attended-acute-respiratory-illness-cincinnati-ohio-july%C3%A2-october-2014
#7
Holly M Biggs, Monica McNeal, W Allan Nix, Carolyn Kercsmar, Aaron T Curns, Beverly Connelly, Marilyn Rice, Shur-Wern Wang Chern, Mila M Prill, Nancy Back, M Steven Oberste, Susan I Gerber, Mary A Staat
Background: Enterovirus D68 (EV-D68) caused a widespread outbreak of respiratory illness in the United States in 2014, predominantly affecting children. We describe EV-D68 rates, spectrum of illness and risk factors from prospective, population-based acute respiratory illness (ARI) surveillance at a large U.S. pediatric hospital. Methods: Children <13 years of age with ARI and residence in Hamilton County, Ohio were enrolled from the inpatient and emergency department (ED) settings at a children's hospital in Cincinnati, Ohio, from July 1-October 31, 2014...
April 4, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28375747/-if-only-you-were-a-boy%C3%A2-friendship-and-sexual-identity-in-mireille-best-s-hymne-aux-mur%C3%A3-nes
#8
Stephanie Schechner
While much French fiction devoted to lesbians focuses on romantic relationships, Mireille Best's (1943-2005) first novel, Hymne aux Murènes (Hymn to the Moray Eels) (1986), depicts a wide variety of relationships between the lesbian protagonist, Mila, and the other young women staying in a sanatorium of sorts for the treatment of an unnamed illness. In this all-female environment, Best depicts relationships between Mila and Paule, a closeted lesbian employee of the sanatorium; between Mila and young women like Josette and Lilli, who are somewhat attracted to Mila but, for the most part, do not act on this attraction; and between very close heterosexual friends (Nicoli and Nicola)...
April 4, 2017: Journal of Lesbian Studies
https://www.readbyqxmd.com/read/28371082/can-you-tell-it-by-the-prime-a-study-of-metaphorical-priming-in-high-functioning-autism-in-comparison-with-matched-controls
#9
Sobh Chahboun, Valentin Vulchanov, David Saldaña, Hendrik Eshuis, Mila Vulchanova
BACKGROUND: Problems with pragmatic aspects of language are well attested in individuals on the autism spectrum. It remains unclear, however, whether figurative language skills improve with language status and whether problems in figurative language are no longer present in highly verbal individuals with autism. AIMS: To investigate whether highly verbal individuals with autism perform similarly as age-, intelligence- and verbal comprehension-matched controls on the processing of one of the most common types of figurative language, metaphors...
March 30, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28359257/plasma-urotensin-ii-levels-in-children-and-adolescents-with-chronic-kidney-disease-a-single-centre-study
#10
Anastasia Garoufi, Styliani Drapanioti, Antonios Marmarinos, Varvara Askiti, Andromachi J Mitsioni, Maria Mila, Georgia Grigoriadou, Dimitrios Georgakopoulos, Constantinos J Stefanidis, Dimitrios Gourgiotis
BACKGROUND: Increased plasma Urotensin II (UII) levels have been found in adults with renal diseases. Studies in children are scarce. The objective of the study is to estimate plasma UII levels in subjects with chronic kidney disease (CKD) stages 3 to 5 and renal transplant recipients (RTR). In addition, the correlation of UII with anthropometric features and biochemical parameters was assessed. METHODS: Fifty-four subjects, aged 3 to 20 years old, 23 with CKD, 13 with end-stage kidney disease (ESKD) undergoing hemodialysis (HD) and 18 RTR were enrolled...
March 31, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28346071/mineral-composition-and-toxic-element-levels-of-muscle-liver-and-kidney-of-intensive-swedish-landrace-and-extensive-mangulica-pigs-from-serbia
#11
Dragica Nikolic, Jasna Djinovic-Stojanovic, Sasa Jankovic, Nikola Stanisic, Cedomir Radovic, Lato Pezo, Mila Lausevic
Mineral composition (Fe, Zn, Cu, Mn, Se, Cr, Co, Ni, Na, K, Mg, Ca) and toxic element levels (Cd, Pb, Hg, As) of soil, feed and tissue (muscle, liver and kidney) from intensive (Swedish Landrace, housed indoors, fed a known diet, 4 years) and extensive (Mangulica, free-roaming, non-specified diet, 7-8 months) pigs was determined by inductively coupled plasma mass spectrometry (ICP-MS). Controlled nutrition produced pigs with higher concentrations of most minerals (muscle: Mn, Se, K, Mg; liver: Zn, Cu, Mn, Se, Cr, Ca; kidney: Zn, Cu, Mn, Se, K, Mg), but for Fe, the opposite trend was found...
March 27, 2017: Food Additives & Contaminants. Part A, Chemistry, Analysis, Control, Exposure & Risk Assessment
https://www.readbyqxmd.com/read/28345679/impact-of-climate-conditions-on-hospital-admissions-for-subcategories-of-cardiovascular-diseases
#12
Sanja Bijelović, Nataša Dragić, Milorad Bijelović, Mila Kovačević, Marija Jevtić, Olivera Ninkovic Mrđenovački
BACKGROUND: The aim of this study has been to examine the association between climate conditions (CC) and hospital admissions for the subcategories of cardiovascular diseases (CVD), according to patients' age. MATERIAL AND METHODS: From January 2010 through December 2011, the daily number of hospital admissions for angina pectoris (AP), essential hypertension (EH), acute myocardial infarction (AMI) and ischemic heart diseases (IHD) for adults (19-64 years old) and the elderly (≥ 65 years old), as well as for the CC (N = 728 days) was collected for multivariate Poisson regression analysis, confounding with season and weekends...
March 24, 2017: Medycyna Pracy
https://www.readbyqxmd.com/read/28343865/regulatory-role-of-rna-chaperone-tdp-43-for-rna-misfolding-and-repeat-associated-translation-in-sca31
#13
Taro Ishiguro, Nozomu Sato, Morio Ueyama, Nobuhiro Fujikake, Chantal Sellier, Akemi Kanegami, Eiichi Tokuda, Bita Zamiri, Terence Gall-Duncan, Mila Mirceta, Yoshiaki Furukawa, Takanori Yokota, Keiji Wada, J Paul Taylor, Christopher E Pearson, Nicolas Charlet-Berguerand, Hidehiro Mizusawa, Yoshitaka Nagai, Kinya Ishikawa
Microsatellite expansion disorders are pathologically characterized by RNA foci formation and repeat-associated non-AUG (RAN) translation. However, their underlying pathomechanisms and regulation of RAN translation remain unknown. We report that expression of expanded UGGAA (UGGAAexp) repeats, responsible for spinocerebellar ataxia type 31 (SCA31) in Drosophila, causes neurodegeneration accompanied by accumulation of UGGAAexp RNA foci and translation of repeat-associated pentapeptide repeat (PPR) proteins, consistent with observations in SCA31 patient brains...
April 5, 2017: Neuron
https://www.readbyqxmd.com/read/28337781/rationale-and-design-of-a-multicenter-international-and-collaborative-coronary-artery-aneurysm-registry-caar
#14
Iván J Núñez-Gil, Luis Nombela-Franco, Rodrigo Bagur, Mario Bollati, Enrico Cerrato, Emilio Alfonso, Christoph Liebetrau, José María De la Torre Hernandez, Benjamín Camacho, Rafael Mila, Ignacio J Amat-Santos, Fernando Alfonso, Ramón Rodríguez-Olivares, Santiago J Camacho Freire, Íñigo Lozano, Víctor Alfonso Jiménez Díaz, Davide Piraino, Roberto Adriano Latini, Gisela Feltes, Jose Antonio Linares, Massimo Mancone, Alfonso Ielasi, Alejandro Sánchez-Grande Flecha, Agustín Fernández Cisnal, Fabrizio Ugo, Jesús M Jiménez Mazuecos, Pierluigi Omedè, Marco Pavani, Pedro A Villablanca, Boshra F Louka, Antonio Fernández-Ortiz
Coronary artery aneurysm is defined as a coronary dilation that exceeds the diameter of adjacent segments or the diameter of the patient's largest normal coronary vessel by 1.5×. It is an uncommon disease that has been diagnosed with increasing frequency since the widespread appearance of coronary angiography. The published incidence varies from 1.5% to 5%, suggesting male dominance and a predilection for the right coronary artery. Although several causes have been described, atherosclerosis accounts for ≥50% of coronary aneurysms in adults...
March 24, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28329194/ten-year-results-of-the-freedom-solo-stentless-heart-valve-excellent-haemodynamics-but-progressive-valve-dysfunction-in-the-long-term
#15
Sandro Sponga, Mila Della Barbera, Daisy Pavoni, Andrea Lechiancole, Enzo Mazzaro, Marialuisa Valente, Gaetano Nucifora, Gaetano Thiene, Ugolino Livi
OBJECTIVES: Freedom Solo (FS) is a pericardial stentless heart valve showing excellent haemodynamic performance at mid-term. The aim of this study was to evaluate the long-term performance of such bioprostheses. METHODS: Between December 2004 and November 2009, 109 patients (31 men; mean age 76 ± 6 years) underwent aortic valve replacement with FS. Preoperatively, the mean NYHA class was 2.5 ± 0.7, the mean EuroSCORE II, 2.8 ± 2.5. Mean prosthesis size was 22...
February 23, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28320366/cardiovascular-risk-is-similar-in-patients-with-glomerulonephritis-compared-to-other-types-of-chronic-kidney-disease-a-matched-cohort-study
#16
Holly L Hutton, Adeera Levin, Jagbir Gill, Ognjenka Djurdjev, Mila Tang, Sean J Barbour
BACKGROUND: Patients with chronic kidney disease (CKD) due to glomerulonephritis (GN) are thought to be at high risk for cardiovascular disease (CVD). However, no study has examined whether GN directly contributes to CV risk beyond the effects conferred by pre-existing traditional risk factors and level of renal function. METHODS: Matched cohort study using the previously described prospective CanPREDDICT study cohort. 2187 patients with CKD (eGFR 15-45 ml/min/m(2)) from 25 Canadian centres were divided into GN vs non-GN cause of CKD...
March 20, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28272018/genetic-polymorphisms-of-cytochrome-p450-enzymes-cyp2c9-cyp2c19-cyp2d6-cyp3a4-and-cyp3a5-in-the-croatian-population
#17
Lana Ganoci, Tamara Božina, Nikica Mirošević Skvrce, Mila Lovrić, Petar Mas, Nada Božina
BACKGROUND: Data on the frequency of pharmacogenetic polymorphisms in the Croatian population are limited. We determined and analyzed frequencies for the most important CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 genetic variants in the Croatian population. METHODS: 2637 subjects were included. Genotyping was performed by real-time polymerase chain reaction (PCR) using TaqMan® DME or TaqMan® SNP Genotyping Assays, and by PCR, and PCR-RFLP analysis. RESULTS: For CYP2C9, allele frequencies of *2 and *3 variant were 14...
March 1, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28263437/hierarchical-growth-of-supramolecular-structures-driven-by-pimerization-of-tetrahedrally-arranged-bipyridinium-units
#18
Marianna Marchini, Massimo Baroncini, Giacomo Bergamini, Paola Ceroni, Mila D'Angelantonio, Paola Franchi, Marco Lucarini, Fabrizia Negri, Tomasz Szreder, Margherita Venturi
In the present study we synthesized a shape-persistent molecule featuring four bipyridinium units that upon reduction undergoes intermolecular pimerization because of the rigid architecture of the molecule. The pimerization process has been investigated by a variety of techniques, like, absorption measurements, EPR, gamma and pulse radiolysis, and compared with the behavior of a model compound. Computational studies have also been performed to support the experimental data. The most interesting feature of the tetramer is that pimerization occurs only above a threshold concentration of monoreduced species, on the contrary of the model compound...
March 6, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28248998/systematics-of-the-dendropsophus-leucophyllatus-species-complex-anura-hylidae-cryptic-diversity-and-the-description-of-two-new-species
#19
Marcel A Caminer, Borja Milá, Martin Jansen, Antoine Fouquet, Pablo J Venegas, Germán Chávez, Stephen C Lougheed, Santiago R Ron
Genetic data in studies of systematics of Amazonian amphibians frequently reveal that purportedly widespread single species in reality comprise species complexes. This means that real species richness may be significantly higher than current estimates. Here we combine genetic, morphological, and bioacoustic data to assess the phylogenetic relationships and species boundaries of two Amazonian species of the Dendropsophus leucophyllatus species group: D. leucophyllatus and D. triangulum. Our results uncovered the existence of five confirmed and four unconfirmed candidate species...
2017: PloS One
https://www.readbyqxmd.com/read/28241554/intensity-based-axial-localization-approaches-for-multifocal-plane-microscopy
#20
Ramraj Velmurugan, Jerry Chao, Sripad Ram, E Sally Ward, Raimund J Ober
Multifocal plane microscopy (MUM) can be used to visualize biological samples in three dimensions over large axial depths and provides for the high axial localization accuracy that is needed in applications such as the three-dimensional tracking of single particles and super-resolution microscopy. This report analyzes the performance of intensity-based axial localization approaches as applied to MUM data using Fisher information calculations. In addition, a new non-parametric intensity-based axial location estimation method, Multi-Intensity Lookup Algorithm (MILA), is introduced that, unlike typical intensity-based methods that make use of a single intensity value per data image, utilizes multiple intensity values per data image in determining the axial location of a point source...
February 20, 2017: Optics Express
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