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https://read.qxmd.com/read/30759193/comparison-of-six-breast-cancer-classifiers-using-qpcr
#1
Evi Berchtold, Martina Vetter, Melanie Gündert, Gergely Csaba, Christine Fathke, Susanne E Ulbrich, Christoph Thomssen, Ralf Zimmer, Eva J Kantelhardt
Motivation: Several gene expression based risk scores and subtype classifiers for breast cancer were developed to distinguish high and low risk patients. Evaluating the performance of these classifiers helps to decide which classifiers should be used in clinical practice for personal therapeutic recommendations. So far, studies that compared multiple classifiers in large independent patient cohorts mostly used microarray measurements. qPCR based classifiers were not included in the comparison or had to be adapted to the different experimental platforms...
February 13, 2019: Bioinformatics
https://read.qxmd.com/read/30753709/routine-musculoskeletal-ultrasound-findings-impact-diagnostic-decisions-maximally-in-autoantibody-seronegative-early-arthritis-patients
#2
Kundan Iqbal, Dennis W Lendrem, Ben Hargreaves, John D Isaacs, Ben Thompson, Arthur G Pratt
Objective: The diagnostic value added by musculoskeletal ultrasound (MSUS) over standard clinical and laboratory parameters has proved difficult to quantify. The additive contribution to diagnostic classification of a pragmatic, 15 min MSUS protocol was appraised in a large, unselected cohort of early arthritis clinic attendees. Methods: Detailed baseline characteristics were recorded. Semi-quantitative MSUS scoring of the most symptomatic wrist, second/third MCPs and PIPs and second/fifth MTPs was recorded, along with the sonographer's scan impression (definitely inflammatory, possibly inflammatory or non-inflammatory)...
February 8, 2019: Rheumatology
https://read.qxmd.com/read/30747019/microstructural-white-matter-alterations-associated-to-neurocognitive-deficits-in-childhood-leukemia-survivors-treated-with-cranial-radiotherapy-a-diffusional-kurtosis-study
#3
Cecilia Follin, Daniel Svärd, Danielle van Westen, Isabella M Björkman-Burtscher, Pia C Sundgren, Sigridur Fjalldal, Jimmy Lätt, Markus Nilsson, Aki Johanson, Eva Marie Erfurth
BACKGROUND: Cranial radiotherapy (CRT) is a known risk factor for neurocognitive impairment in survivors of childhood acute lymphoblastic leukemia (ALL). Diffusion tensor imaging (DTI) and diffusional kurtosis imaging (DKI) are MRI techniques that quantify microstructural changes in brain white matter (WM) and DKI is regarded as the more sensitive of them. Our aim was to more thoroughly understand the nature of cognitive deficits after cranial radiotherapy (CRT) in adulthood after childhood ALL...
February 12, 2019: Acta Oncologica
https://read.qxmd.com/read/30745341/vapb-depletion-alters-neuritogenesis-and-phosphoinositide-balance-in-motoneuron-like-cells-relevance-to-vapb-linked-als
#4
Paola Genevini, Maria Nicol Colombo, Rossella Venditti, Stefania Marcuzzo, Sara Francesca Colombo, Pia Bernasconi, Maria Antonietta De Matteis, Nica Borgese, Francesca Navone
VAPB and VAPA are ubiquitously expressed ER membrane proteins that play key roles in lipid exchange at membrane contact sites. A mutant, aggregation-prone, form of VAPB (P56S) is linked to a dominantly inherited form of ALS, however, it has been unclear whether its pathogenicity is due to toxic gain of function, to negative dominance, or simply to insufficient levels of the wild-type protein produced from a single allele (haploinsufficiency). To investigate whether reduced levels of functional VAPB, independently from the presence of the mutant form, affect the physiology of mammalian motoneuron-like cells, we generated NSC34 clones, from which VAPB was partially or nearly completely depleted...
February 11, 2019: Journal of Cell Science
https://read.qxmd.com/read/30744008/risk-and-protective-environmental-factors-associated-with-autism-spectrum-disorder-evidence-based-principles-and-recommendations
#5
REVIEW
Leonardo Emberti Gialloreti, Luigi Mazzone, Arianna Benvenuto, Alessio Fasano, Alicia Garcia Alcon, Aletta Kraneveld, Romina Moavero, Raanan Raz, Maria Pia Riccio, Martina Siracusano, Ditza A Zachor, Marina Marini, Paolo Curatolo
Autism Spectrum Disorder (ASD) is a complex condition with early childhood onset, characterized by a set of common behavioral features. The etiology of ASD is not yet fully understood; however, it reflects the interaction between genetics and environment. While genetics is now a well-established risk factor, several data support a contribution of the environment as well. This paper summarizes the conclusions of a consensus conference focused on the potential pathogenetic role of environmental factors and on their interactions with genetics...
February 8, 2019: Journal of Clinical Medicine
https://read.qxmd.com/read/30742624/maternal-body-mass-index-gestational-weight-gain-and-the-risk-of-overweight-and-obesity-across-childhood-an-individual-participant-data-meta-analysis
#6
Ellis Voerman, Susana Santos, Bernadeta Patro Golab, Pilar Amiano, Ferran Ballester, Henrique Barros, Anna Bergström, Marie-Aline Charles, Leda Chatzi, Cécile Chevrier, George P Chrousos, Eva Corpeleijn, Nathalie Costet, Sarah Crozier, Graham Devereux, Merete Eggesbø, Sandra Ekström, Maria Pia Fantini, Sara Farchi, Francesco Forastiere, Vagelis Georgiu, Keith M Godfrey, Davide Gori, Veit Grote, Wojciech Hanke, Irva Hertz-Picciotto, Barbara Heude, Daniel Hryhorczuk, Rae-Chi Huang, Hazel Inskip, Nina Iszatt, Anne M Karvonen, Louise C Kenny, Berthold Koletzko, Leanne K Küpers, Hanna Lagström, Irina Lehmann, Per Magnus, Renata Majewska, Johanna Mäkelä, Yannis Manios, Fionnuala M McAuliffe, Sheila W McDonald, John Mehegan, Monique Mommers, Camilla S Morgen, Trevor A Mori, George Moschonis, Deirdre Murray, Carol Ní Chaoimh, Ellen A Nohr, Anne-Marie Nybo Andersen, Emily Oken, Adriëtte J J M Oostvogels, Agnieszka Pac, Eleni Papadopoulou, Juha Pekkanen, Costanza Pizzi, Kinga Polanska, Daniela Porta, Lorenzo Richiardi, Sheryl L Rifas-Shiman, Luca Ronfani, Ana C Santos, Marie Standl, Camilla Stoltenberg, Elisabeth Thiering, Carel Thijs, Maties Torrent, Suzanne C Tough, Tomas Trnovec, Steve Turner, Lenie van Rossem, Andrea von Berg, Martine Vrijheid, Tanja G M Vrijkotte, Jane West, Alet Wijga, John Wright, Oleksandr Zvinchuk, Thorkild I A Sørensen, Debbie A Lawlor, Romy Gaillard, Vincent W V Jaddoe
BACKGROUND: Maternal obesity and excessive gestational weight gain may have persistent effects on offspring fat development. However, it remains unclear whether these effects differ by severity of obesity, and whether these effects are restricted to the extremes of maternal body mass index (BMI) and gestational weight gain. We aimed to assess the separate and combined associations of maternal BMI and gestational weight gain with the risk of overweight/obesity throughout childhood, and their population impact...
February 2019: PLoS Medicine
https://read.qxmd.com/read/30741743/the-impact-of-preinfarct-angina-on-the-incidence-of-acute-kidney-injury-in-patients-with-myocardial-infarction-interaction-with-pre-existent-chronic-kidney-disease
#7
Raquel B Santos, Inês Silveira, Maria Trêpa, Bruno Brochado, Rui Magalhães, Patrícia Rodrigues, Maria J Sousa, André Luz, João Silveira, Aníbal Albuquerque, Severo Torres, Adelino F Leite-Moreira, Henrique Carvalho
AIM: Remote ischemic conditioning may reduce acute kidney injury (AKI) in patients undergoing a coronary intervention. As preinfarct angina (PIA) might act as a preconditioning stimulus in patients with ST-elevation myocardial infarction (STEMI), we aimed to study whether PIA reduces AKI in accordance to pre-existing chronic kidney disease. PATIENTS AND METHODS: We conducted a retrospective study including 891 consecutive STEMI patients who underwent primary coronary intervention from January 2008 to March 2016...
February 7, 2019: Coronary Artery Disease
https://read.qxmd.com/read/30741393/the-violent-resident-a-critical-exploration-of-the-ethics-of-resident-to-resident-aggression
#8
Alisa Grigorovich, Pia Kontos, Alexis P Kontos
Resident-to-resident aggression is quite prevalent in long-term care settings. Within popular and empirical accounts, this form of aggression is most commonly attributed to the actions of an aberrant individual living with dementia characterized as the "violent resident." It is often a medical diagnosis of dementia that is highlighted as the ultimate cause of aggression. This neglects the fact that acts of aggression are influenced by broader structural conditions. This has ethical implications in that the emphasis on individual aberration informs public policy strategies for prevention with a focus on restricting the freedom of individuals using behavioural modification, drugs, or other restraints with the intent to protect others from harm...
February 11, 2019: Journal of Bioethical Inquiry
https://read.qxmd.com/read/30737993/electrocardiographic-measures-of-ventricular-repolarization-dispersion-and-arrhythmic-outcomes-among-st-elevation-myocardial-infarction-patients-with-pre-infarction-angina-undergoing-primary-percutaneous-coronary-intervention
#9
Tarek A N Ahmed, Amr A Abdel-Nazeer, Ayman K M Hassan, Hosam Hasan-Ali, Amr A Youssef
BACKGROUND: Arrhythmias are considered one of the major causes of death in ST elevation myocardial infarction (STEMI), particularly in the early in-hospital phase. Pre-infarction angina (PIA) has been suggested to have a protective role. OBJECTIVES: To study the difference in acute electrocardiographic findings between STEMI patients with and without PIA and to assess the in-hospital arrhythmias in both groups. MATERIAL AND METHODS: We prospectively enrolled 238 consecutive patients with STEMI...
February 9, 2019: Annals of Noninvasive Electrocardiology
https://read.qxmd.com/read/30735339/iatrogenic-foreign-body-in-urinary-bladder-holmium-laser-vs-ceramic-and-the-winner-is%C3%A2
#10
Daniele Castellani, Luca Gasparri, Redi Claudini, Maria Pia Pavia, Alessandro Branchi, Marco Dellabella
INTRODUCTION: Urological surgery is estimated to be the third most common cause of iatrogenic-retained foreign bodies (1). PRESENTATION: A 76-year old man was undergoing a transurethral resection of bladder tumor with a 26-Ch continuous flow resectoscope (Karl Storz, Germany). Before starting resection, a detachment of resectoscope sheath tip was noted. The ceramic tip was free-floating in the bladder lumen, and it would not fit within the sheath, making direct extraction using the loop impossible...
February 10, 2019: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://read.qxmd.com/read/30735266/the-impact-of-an-individualised-neonatal-parent-support-programme-on-parental-stress-a-quasi-experimental-study
#11
Catrin Månsson, Bengt Sivberg, Bo Selander, Pia Lundqvist
AIM: To evaluate the impact on parental stress of an individualised neonatal parent support programme. METHOD: A quasi-experimental design. Parents of preterm infants, at a level II NICU, were consecutively assigned to a control group (n = 130) and to an intervention group (n = 101). The programme focused on person-centred communication and consisted of four individual nurse-parent dialogues during the infants' hospitalisation. The Swedish version of the Parental Stressor Scale: Neonatal Intensive Care Unit was used to assess parental stress...
February 8, 2019: Scandinavian Journal of Caring Sciences
https://read.qxmd.com/read/30734863/outcome-of-small-for-gestational-age-fetuses-in-breech-presentation-at-term-according-to-mode-of-delivery-a-nationwide-population-based-record-linkage-study
#12
Pia Hinnenberg, Anna Toijonen, Mika Gissler, Seppo Heinonen, Georg Macharey
PURPOSE: To evaluate whether a trial of planned vaginal labor is associated with adverse perinatal outcome in singleton, small for gestational agefetuses in breech presentation at term. METHODS: This is a Finnish nationwide, population-based record linkage study. The studied population included all small for gestational age breech labors from January 1, 2004 to December 31, 2014. "Small for gestational age" was defined as birth weight below the 10th percentile according to gestational age...
February 8, 2019: Archives of Gynecology and Obstetrics
https://read.qxmd.com/read/30734341/fdg-pet-ct-as-a-diagnostic-and-prognostic-tool-for-the-evaluation-of-marginal-zone-lymphoma
#13
Iuliana Vaxman, Hanna Bernstine, Geffen Kleinstern, Natav Hendin, Shai Shimony, Liran Domachevsky, Ronit Gurion, David Groshar, Pia Raanani, Anat Gafter-Gvili
We evaluated the role of 18-Fluoro-2-deoxy-D-glucose positron emission tomography ([18F] FDG-PET) with computed tomography (CT) (PET/CT) as a diagnostic and prognostic tool in newly diagnosed marginal zone lymphoma (MZL) patients. This is a retrospective cohort study of patients with newly diagnosed MZL, treated with immunotherapy, chemotherapy regimens, surgery or helicobacter pylori eradication between 2008 and 2016 in a single tertiary center. Only patients who had a pre-treatment PET/CT (P-PET/CT) were included...
February 8, 2019: Hematological Oncology
https://read.qxmd.com/read/30733662/a-novel-mutation-of-kif11-in-a-child-with-22q11-2-deletion-syndrome-associated-with-mclmr
#14
Nilay Güneş, Emre Taşdemir, Heather Jeffery, Hüseyin Yetik, Pia Ostergaard, Beyhan Tüysüz
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; OMIM 152950) is a rare autosomal dominantly inherited syndrome. Mutations in the kinesin family member 11 ( KIF11 ) gene have been associated with this condition. Here, we report a de novo novel heterozygous missense mutation in exon 12 of the KIF11 gene [c.1402T>G; p.(Leu468Val)] in a boy with 22q11.2 microdeletion syndrome. His major features were microcephaly, ventricular septal defect, congenital lymphedema of the feet, and distinct facial appearance including upslanting palpebral fissures, a broad nose with rounded tip, anteverted nares, long philtrum with a thin upper lip, pointed chin, and prominent ears...
January 2019: Molecular Syndromology
https://read.qxmd.com/read/30725122/insufficient-consensus-regarding-circle-size-and-bone-loss-width-using-the-ratio-best-fit-circle-method-even-with-three-dimensional-computed-tomography
#15
Lucca Lacheta, Elmar Herbst, Andreas Voss, Sepp Braun, Pia Jungmann, Peter J Millett, Andreas Imhoff, Frank Martetschläger
PURPOSE: Glenoid bone integrity is crucial for shoulder stability. The purpose of this study was to investigate a non-invasive method for quantifying bone loss regarding reliability and accuracy to detect glenoid bone deficiency in standard two-dimensional (2D) and three-dimensional (3D) computed tomography (CT) measurements at different time points. It was hypothesized that the diameter of the circle used would significantly differ between raters, rendering this method inaccurate and not allowing for an exact estimation of glenoid defect size...
February 6, 2019: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://read.qxmd.com/read/30724991/-stroke-public-health-when-time-is-brain
#16
Tomás Labbé Atenas, Javiera Busquets Escuer, Pia Venegas Araneda, Carolina Neira Ojeda, Irving Santos Carquin, Melanie Paccot Burnens
No abstract text is available yet for this article.
December 2018: Revista Médica de Chile
https://read.qxmd.com/read/30723313/dpyd-6-plays-an-important-role-in-fluoropyrimidine-toxicity-in-addition-to-dpyd-2a-and-c-2846a-t-a-comprehensive-analysis-in-1254-patients
#17
Marzia Del Re, Saverio Cinieri, Angela Michelucci, Stefano Salvadori, Fotios Loupakis, Marta Schirripa, Chiara Cremolini, Stefania Crucitta, Cecilia Barbara, Angelo Di Leo, Tiziana Pia Latiano, Filippo Pietrantonio, Samantha Di Donato, Paolo Simi, Alessandro Passardi, Filippo De Braud, Giuseppe Altavilla, Claudio Zamagni, Roberto Bordonaro, Alfredo Butera, Evaristo Maiello, Carmine Pinto, Alfredo Falcone, Valentina Mazzotti, Riccardo Morganti, Romano Danesi
Dihydropyrimidine dehydrogenase (DPYD) is a highly polymorphic gene and classic deficient variants (i.e., c.1236G>A/HapB3, c.1679T>G, c.1905+1G>A and c.2846A>T) are characterized by impaired enzyme activity and risk of severe adverse drug reactions (ADRs) in patients treated with fluoropyrimidines. The identification of poor metabolizers by pre-emptive DPYD screening may reduce the rate of ADRs but many patients with wild-type genotype for classic variants may still display ADRs. Therefore, the search for additional DPYD polymorphisms associated with ADRs may improve the safety of treatment with fluoropyrimidines...
February 6, 2019: Pharmacogenomics Journal
https://read.qxmd.com/read/30719836/canine-oral-primary-melanoma-cells-exhibit-shift-to-mesenchymal-phenotype-and-phagocytic-behaviour
#18
Franziska Schmidt, Daniela Brodesser, Martin Reifinger, Sara Forte, Pia Semp, Matthias C Eberspächer-Schweda, Markus Wolschek, Sabine Brandt, Miriam Kleiter, Barbara Pratscher
Canine oral malignant melanoma (COMM) is a potentially lethal cancer disease. We established primary cell lines from mostly amelanotic primary COMM and metastases and assessed lesions and derived cells for Melan A, PNL2 and CD146 expression. Then, migration and invasion of CD146-enriched versus -depleted COMM cells were analysed. Epithelial-to-mesenchymal transition (EMT) was addressed by Vimentin-staining and MMP2/MMP9 zymography. Phagocytic behaviour was analysed by histopathological examination and phagocytosis assay...
February 4, 2019: Veterinary and Comparative Oncology
https://read.qxmd.com/read/30719381/the-descriptive-epidemiology-of-sitting-in-chilean-adults-results-from-the-national-health-survey-2009-2010
#19
Nicolas Aguilar-Farias, Pia Martino-Fuentealba, Andrea Cortinez-O'Ryan, Damian Chandia-Poblete, Carlos A Celis-Morales, Paz Bahamondes, Jaime Leppe Zamora, Wendy J Brown
Background: Although evidence on the health effects of sedentary behavior (SB) has grown systematically in recent years, few developing countries have reported population levels of SB, especially in South America. Our objective was to describe time spent sitting in a representative sample from Chile categorized by age, gender, educational level, and body mass index (BMI). Methods: A national health survey was conducted in Chile in a nationally representative sample ( n  = 5411) in 2009-2010...
January 2019: Journal of Sport and Health Science
https://read.qxmd.com/read/30716734/eeg-alpha-re-activity-after-paramedian-bi-thalamic-stroke
#20
Pia De Stefano, Andreas Kleinschmidt, Margitta Seeck
No abstract text is available yet for this article.
February 4, 2019: European Neurology
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