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https://www.readbyqxmd.com/read/27914223/osteogenesis-imperfecta-new-genes-reveal-novel-mechanisms-in-bone-dysplasia
#1
REVIEW
Heeseog Kang, A C S Aryal, Joan C Marini
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is now understood as a collagen-related disorder. During the last decade, research has made remarkable progress in identifying new OI-causing genes and beginning to understand the intertwined molecular and biochemical mechanisms of their gene products. Most cases of OI have dominant inheritance. Each new gene for recessive OI, and a recently identified gene for X-linked OI, has shed new light on its (often previously unsuspected) function in bone biology...
November 19, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/27913838/isolated-transverse-process-fractures-insignificant-injury-or-marker-of-complex-injury-pattern
#2
G Lombardo, P Petrone, K Prabhakaran, C P Marini
INTRODUCTION: This study investigates the incidence of isolated transverse process fractures (ITPFx) amongst vertebral fractures in trauma patients, and specific-associated injury patterns present in patients with ITPFx. MATERIALS AND METHODS: A retrospective, 4-year review of our Level 1 Trauma Center registry was performed. Patients with blunt spinal column fractures were identified. Data collected included patient demographics, Injury Severity Score (ISS), type of imaging obtained, and concomitant injuries, including rib and pelvic fractures, liver, spleen, and kidney injury (SOI)...
December 2, 2016: European Journal of Trauma and Emergency Surgery: Official Publication of the European Trauma Society
https://www.readbyqxmd.com/read/27913817/the-contribution-of-response-conflict-multisensory-integration-and-body-mediated-attention-to-the-crossmodal-congruency-effect
#3
Francesco Marini, Daniele Romano, Angelo Maravita
The crossmodal congruency task is a consolidated paradigm for investigating interactions between vision and touch. In this task, participants judge the elevation of a tactile target stimulus while ignoring a visual distracter stimulus that may occur at a congruent or incongruent elevation, thus engendering a measure of visuo-tactile interference (crossmodal congruency effect, CCE). The CCE reflects perceptual, attentional, and response-related factors, but their respective roles and interactions have not been set out yet...
December 2, 2016: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/27911338/sleepiness-and-sleep-related-breathing-disorders-in-myotonic-dystrophy-and-responses-to-treatment-a-prospective-cohort-study
#4
Sophie D West, Hanns Lochmüller, Joan Hughes, Antonio Atalaia, Chiara Marini-Bettolo, Simon V Baudouin, Kirstie N Anderson
OBJECTIVE: We conducted prospective assessments in people with myotonic dystrophy type 1 (DM1) with daytime sleepiness, provided targeted therapies and assessed response. METHODS: Patients had overnight sleep assessments. Treatment with continuous positive airway pressure (CPAP) for OSA, non-invasive ventilation (NIV) for respiratory failure, modafinil for excessive daytime sleepiness were commenced. RESULTS: 120 people were studied: mean age 46...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27910538/a-compact-and-versatile-dynamic-flow-cryostat-for-photon-science
#5
Peter J E M van der Linden, Marco Moretti Sala, Christian Henriquet, Matteo Rossi, Kenya Ohgushi, François Fauth, Laura Simonelli, Carlo Marini, Edmundo Fraga, Claire Murray, Jonathan Potter, Michael Krisch
We have developed a helium gas flow cryostat for use on synchrotron tender to hard X-ray beamlines. Very efficient sample cooling is achieved because the sample is placed directly in the cooling helium flow on a removable sample holder. The cryostat is compact and easy to operate; samples can be changed in less than 5 min at any temperature. The cryostat has a temperature range of 2.5-325 K with temperature stability better than 0.1 K. The very wide optical angle and the ability to operate in any orientation mean that the cryostat can easily be adapted for different X-ray techniques...
November 2016: Review of Scientific Instruments
https://www.readbyqxmd.com/read/27910302/description-of-asymptomatic-takotsubo-cardiomyopathy-after-dual-chamber-pacemaker-implantation-are-inverted-t-waves-always-related-to-cardiac-memory
#6
Ludovico Lazzari, Federica DI Meo, Alessandra Crocetti, Michele Castelli, Chiara Marini, Stefano Donzelli, Daniella Bovelli, Giovanni Carreras, Enrico Boschetti
No abstract text is available yet for this article.
February 2017: Minerva Cardioangiologica
https://www.readbyqxmd.com/read/27901332/safety-and-efficacy-of-non-continuous-echocardiographic-guided-pericardiocentesis-a-single-center-study-of-478-patients
#7
Ilaria Battistoni, Marco Marini, Luca Angelini, Matteo Francioni, Alberto Gili, Stefano Moretti, Carlo Costantini, Christian Corinaldesi, Marica Bordicchia, Gian P Perna
BACKGROUND: There are limited contemporary data on the safety and efficacy of echo-guided pericardiocentesis in Italy. The aim of the study was to evaluate safety and efficacy of pericardiocentesis, performed with non-continuous echocardiography monitoring. All the procedures performed at Department of Cardiovascular Disease, Ospedali Riuniti Ancona, from January 2001 to June 2013, were retrospectively analyzed to determine risks connected to the procedure and its success rate. Epidemiological data, procedure indications and etiology of the effusions were also recorded...
November 30, 2016: Minerva Cardioangiologica
https://www.readbyqxmd.com/read/27900420/nmr-based-metabolomic-approach-to-study-urine-samples-of-chronic-inflammatory-rheumatic-disease-patients
#8
Alessia Vignoli, Donatella Maria Rodio, Anna Bellizzi, Anatoly Petrovich Sobolev, Elena Anzivino, Monica Mischitelli, Leonardo Tenori, Federico Marini, Roberta Priori, Rossana Scrivo, Guido Valesini, Ada Francia, Manuela Morreale, Maria Rosa Ciardi, Marco Iannetta, Cristiana Campanella, Donatella Capitani, Claudio Luchinat, Valeria Pietropaolo, Luisa Mannina
The nuclear magnetic resonance (NMR)-based metabolomic approach was used as analytical methodology to study the urine samples of chronic inflammatory rheumatic disease (CIRD) patients. The urine samples of CIRD patients were compared to the ones of both healthy subjects and patients with multiple sclerosis (MS), another immuno-mediated disease. Urine samples collected from 39 CIRD patients, 25 healthy subjects, and 26 MS patients were analyzed using (1)H NMR spectroscopy, and the NMR spectra were examined using partial least squares-discriminant analysis (PLS-DA)...
November 30, 2016: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/27897412/systemic-inflammation-body-composition-and-physical-performance-in-old-community-dwellers
#9
Riccardo Calvani, Federico Marini, Matteo Cesari, Thomas W Buford, Todd M Manini, Marco Pahor, Christiaan Leeuwenburgh, Roberto Bernabei, Francesco Landi, Emanuele Marzetti
BACKGROUND: Chronic inflammation, changes in body composition, and declining physical function are hallmarks of the ageing process. The aim of the present study was to provide a preliminary characterisation of the relationship among these age-related phenomena via multivariate modelling. METHODS: Thirty-five old adults (OAs) and 17 young adults (YAs) were enrolled. The volume of skeletal muscle, subcutaneous adipose tissue (SAT), and intermuscular adipose tissue (IMAT) of the thigh was quantified by three-dimensional magnetic resonance imaging...
August 8, 2016: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/27894063/loss-of-glutaredoxin-3-impedes-mammary-lobuloalveolar-development-during-pregnancy-and-lactation
#10
Khanh Pham, Jie Dong, Xiqian Jiang, Ying Qu, Han Yu, Yisheng Yang, Walter Olea, Juan C Marini, Lawrence Chan, Jin Wang, Xander H T Wehrens, Xiaojiang Cui, Yi Li, Darryl L Hadsell, Ninghui Cheng
Mammalian glutaredoxin 3 (Grx3) has been shown to be important for regulating cellular redox homeostasis in the cell. Our previous studies indicate that Grx3 is significantly overexpressed in various human cancers including breast cancer and demonstrate that Grx3 controls cancer cell growth and invasion by regulating ROS and NF-κB signaling pathways. However, it remains to be determined whether Grx3 is required for normal mammary gland development and how it contributes to epithelial cell proliferation and differentiation in vivo In the present study, we examined Grx3 expression in different cell types within the developing mouse mammary gland (MG) and found enhanced expression of Grx3 at pregnancy and lactation stages...
November 15, 2016: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27881426/contemporary-trends-and-age-specific-sex-differences-in-management-and-outcome-for-patients-with-st-segment-elevation-myocardial-infarction
#11
Leonardo De Luca, Marco Marini, Lucio Gonzini, Alessandro Boccanelli, Gianni Casella, Francesco Chiarella, Stefano De Servi, Antonio Di Chiara, Giuseppe Di Pasquale, Zoran Olivari, Giorgio Caretta, Laura Lenatti, Michele Massimo Gulizia, Stefano Savonitto
BACKGROUND: Age- and sex-specific differences exist in the treatment and outcome of ST-elevation myocardial infarction (STEMI). We sought to describe age- and sex-matched contemporary trends of in-hospital management and outcome of patients with STEMI. METHODS AND RESULTS: We analyzed data from 5 Italian nationwide prospective registries, conducted between 2001 and 2014, including consecutive patients with STEMI. All the analyses were age- and sex-matched, considering 4 age classes: <55, 55 to 64, 65 to 74, and ≥75 years...
November 23, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/27877237/near-infrared-fluorescent-nanoparticles-derived-from-hyaluronic-acid-improve-tumor-contrast-for-image-guided-surgery
#12
Tanner K Hill, Sneha S Kelkar, Nicholas E Wojtynek, Joshua J Souchek, William M Payne, Kristina Stumpf, Frank C Marini, Aaron M Mohs
Tumor tissue that remains undetected at the primary surgical site can cause tumor recurrence, repeat surgery, and treatment strategy alterations that impose a significant patient and healthcare burden. Intraoperative near infrared fluorescence (NIRF) imaging is one potential method to identify remaining tumor by visualization of NIR fluorophores that are preferentially localized to the tumor. This requires development of fluorophores that consistently identify tumor tissue in different patients and tumor types...
2016: Theranostics
https://www.readbyqxmd.com/read/27874094/identification-of-polo-like-kinase-1-interaction-inhibitors-using-a-novel-cell-based-assay
#13
Karine Normandin, Jean-François Lavallée, Marie Futter, Alexandre Beautrait, Jean Duchaine, Sébastien Guiral, Anne Marinier, Vincent Archambault
Polo-like kinase 1 (Plk1) plays several roles in cell division and it is a recognized cancer drug target. Plk1 levels are elevated in cancer and several types of cancer cells are hypersensitive to Plk1 inhibition. Small molecule inhibitors of the kinase domain (KD) of Plk1 have been developed. Their selectivity is limited, which likely contributes to their toxicity. Polo-like kinases are characterized by a Polo-Box Domain (PBD), which mediates interactions with phosphorylation substrates or regulators. Inhibition of the PBD could allow better selectivity or result in different effects than inhibition of the KD...
November 22, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27872396/comparison-of-estimates-of-body-fat-content-in-childhood-onset-systemic-lupus-erythematosus
#14
N A Sinicato, F A Peres, K de Oliveira Peliçari, A de Oliveira Santos, C D Ramos, R Marini, S Appenzeller
OBJECTIVE: We aimed to compare estimates of body fat content with respect to their ability to predict the percentage of body fat, confirmed by dual-energy X-ray absorptiometry scans in childhood-onset systemic lupus erythematosus. METHODS: We included 64 consecutive childhood-onset systemic lupus erythematosus patients and 64 healthy age and sex-matched controls in a cross-sectional study. Anthropometric data, body mass index and body adiposity index were calculated for all subjects...
November 21, 2016: Lupus
https://www.readbyqxmd.com/read/27871880/abscisic-acid-enhances-glucose-disposal-and-induces-brown-fat-activity-in-adipocytes-in-vitro-and-in-vivo
#15
Laura Sturla, Elena Mannino, Sonia Scarfì, Santina Bruzzone, Mirko Magnone, Giovanna Sociali, Valeria Booz, Lucrezia Guida, Tiziana Vigliarolo, Chiara Fresia, Laura Emionite, Ambra Buschiazzo, Cecilia Marini, Gianmario Sambuceti, Antonio De Flora, Elena Zocchi
Abscisic acid (ABA) is a plant hormone also present in animals, where it is involved in the regulation of innate immune cell function and of glucose disposal, through its receptor LANCL2. ABA stimulates glucose uptake by myocytes and pre-adipocytes in vitro and oral ABA improves glycemic control in rats and in healthy subjects. Here we investigated the role of the ABA/LANCL2 system in the regulation of glucose uptake and metabolism in adipocytes. Silencing of LANCL2 abrogated both the ABA- and insulin-induced increase of glucose transporter-4 expression and of glucose uptake in differentiated 3T3-L1 murine adipocytes; conversely, overexpression of LANCL2 enhanced basal, ABA- and insulin-stimulated glucose uptake...
November 15, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27870012/above-and-belowground-insect-herbivory-modifies-the-response-of-a-grassland-plant-community-to-nitrogen-eutrophication
#16
Pernilla Borgström, Joachim Strengbom, Lorenzo Marini, Maria Viketoft, Riccardo Bommarco
Understanding the role that species interactions play in determining the rate and direction of ecosystem change due to nitrogen (N) eutrophication is important for predicting the consequences of global change. Insects might play a major role in this context. They consume substantial amounts of plant biomass and can alter competitive interactions among plants, indirectly shaping plant community composition. Nitrogen eutrophication affects plant communities globally, but there is limited experimental evidence of how insect herbivory modifies plant community response to raised N levels...
November 21, 2016: Ecology
https://www.readbyqxmd.com/read/27866656/an-analysis-of-possible-off-target-effects-following-cas9-crispr-targeted-deletions-of-neuropeptide-gene-enhancers-from-the-mouse-genome
#17
Elizabeth Anne Hay, Abdulla Razak Khalaf, Pietro Marini, Andrew Brown, Karyn Heath, Darrin Sheppard, Alasdair MacKenzie
We have successfully used comparative genomics to identify putative regulatory elements within the human genome that contribute to the tissue specific expression of neuropeptides such as galanin and receptors such as CB1. However, a previous inability to rapidly delete these elements from the mouse genome has prevented optimal assessment of their function in-vivo. This has been solved using CAS9/CRISPR genome editing technology which uses a bacterial endonuclease called CAS9 that, in combination with specifically designed guide RNA (gRNA) molecules, cuts specific regions of the mouse genome...
November 4, 2016: Neuropeptides
https://www.readbyqxmd.com/read/27865082/-nutritional-self-care-promotion-in-community-dwelling-older-people-a-protocol-of-mixed-method-research
#18
Barbara Raffaele, Maria Matarese, Michela Piredda, Maria Grazia De Marinis
AIM: To describe a research protocol designed to promote nutritional self-care in older people. The aims of the research are: a) to evaluate the effectiveness of a nutritional education intervention in changing knowledge, attitudes, and behaviors; b) to describe the nutritional self-care ability and activities; c) to identify the promoting factors and barriers that influence the changes in nutritional knowledge, behaviors and attitudes in home-dwelling older people. METHOD: Sequential explanatory mixed method design...
July 2016: Professioni Infermieristiche
https://www.readbyqxmd.com/read/27864847/diagnostic-targeted-resequencing-in-349-patients-with-drug-resistant-pediatric-epilepsies-identifies-causative-mutations-in-30-different-genes
#19
Elena Parrini, Carla Marini, Davide Mei, Anna Galuppi, Elena Cellini, Daniela Pucatti, Laura Chiti, Domenico Rutigliano, Claudia Bianchini, Simona Virdò, Dalila De Vita, Stefania Bigoni, Carmen Barba, Francesco Mari, Martino Montomoli, Tiziana Pisano, Anna Rosati, Renzo Guerrini
Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients seizures onset occurred before age 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6...
November 19, 2016: Human Mutation
https://www.readbyqxmd.com/read/27864354/nutritional-evaluation-of-undocumented-children-a-neglected-health-issue-affecting-the-most-fragile-people
#20
Ornella Comandini, Stefano Cabras, Elisabetta Marini
The precise knowledge of age is necessary for assessing a child's nutritional status. We show the magnitude and the effects of age error in real and hypothetical situations, and discuss possible compensative strategies. Using data collected in different years, we found that 79.8% of 1056 Ugandan children had some age knowledge, but there was a mean shift of 7.5 (±8.8) months between ages obtained from different sources. Using a free software for calculating the effect of bias and random error, we showed the variation in malnutrition prevalence in hypothetical cases...
November 17, 2016: European Journal of Public Health
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