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https://www.readbyqxmd.com/read/28916186/clinical-immunological-and-genetic-spectrum-of-696-patients-with-combined-immunode%C3%AF-ciency
#1
Hassan Abolhassani, Janet Chou, Wayne Bainter, Craig Platt, Mahmood Tavassoli, Toba Momen, Marzieh Tavakol, Mohammad Hossein Eslamian, Mohammad Gharagozlou, Masoud Movahedi, Mohsen Ghadami, Amir Ali Hamidieh, Gholamreza Azizi, Reza Yazdani, Mohsen Afarideh, Alireza Ghajar, Arash Havaei, Zahra Chavoushzadeh, Seyed Alireza Mahdaviani, Taher Cheraghi, Nasrin Behniafard, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari-Azad, Mohammamd Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Delara Babaie, Iraj Mohammadzadeh, Javad Ghaffari, Alireza Shafiei, Najmeddin Kalantari, Hamid Ahanchian, Maryam Khoshkhui, Habib Soheili, Abbas Dabbaghzadeh, Afshin Shirkani, Rasoul Nasiri Kalmarzi, Seyed Hamidreza Mortazavi, Javad Tafaroji, Abbas Khalili, Javad Mohammadi, Babak Negahdari, Mohammad-Taghi Joghataei, Basel K Al-Ramadi, Capucine Picard, Nima Parvaneh, Nima Rezaei, Talal Chatila, Michel J Massaad, Sevgi Keles, Lennart Hammarström, Raif S Geha, Asghar Aghamohammadi
BACKGROUND: Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited. OBJECTIVES: This study aims to characterize the categories of CID patients in Iran clinically and genetically. METHODS: Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and non-syndromic CIDs (352 patients)...
September 12, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28913742/automated-morphological-and-morphometric-analysis-of-mass-spectrometry-imaging-data-application-to-biomarker-discovery
#2
Gaël Picard de Muller, Rima Ait-Belkacem, David Bonnel, Rémi Longuespée, Jonathan Stauber
Mass spectrometry imaging datasets are mostly analyzed in terms of average intensity in regions of interest. However, biological tissues have different morphologies with several sizes, shapes, and structures. The important biological information, contained in this highly heterogeneous cellular organization, could be hidden by analyzing the average intensities. Finding an analytical process of morphology would help to find such information, describe tissue model, and support identification of biomarkers. This study describes an informatics approach for the extraction and identification of mass spectrometry image features and its application to sample analysis and modeling...
September 14, 2017: Journal of the American Society for Mass Spectrometry
https://www.readbyqxmd.com/read/28903637/helping-others-regulate-emotion-predicts-increased-regulation-of-one-s-own-emotions-and-decreased-symptoms-of-depression
#3
Bruce P Doré, Robert R Morris, Daisy A Burr, Rosalind W Picard, Kevin N Ochsner
Although much research considers how individuals manage their own emotions, less is known about the emotional benefits of regulating the emotions of others. We examined this topic in a 3-week study of an online platform providing training and practice in the social regulation of emotion. We found that participants who engaged more by helping others (vs. sharing and receiving support for their own problems) showed greater decreases in depression, mediated by increased use of reappraisal in daily life. Moreover, social regulation messages with more other-focused language (i...
May 2017: Personality & Social Psychology Bulletin
https://www.readbyqxmd.com/read/28895197/impact-of-cardiac-resynchronization-therapy-on-mitral-valve-apparatus-geometry-and-clinical-outcomes-in-patients-with-secondary-mitral-regurgitation
#4
Christos G Mihos, Evin Yucel, Romain Capoulade, Mary P Orencole, Gaurav A Upadhyay, Orlando Santana, Jagmeet P Singh, Michael H Picard
BACKGROUND: Cardiac resynchronization therapy (CRT) may improve secondary mitral regurgitation (MR) in patients with cardiomyopathy. The effects on mitral valve (MV) and left ventricular (LV) geometry, however, have not been clearly defined. METHODS: Between 2009 and 2012, 229 CRT implants were performed at a single academic center. Seventy-one had ≥mild MR at baseline and serial echocardiography, without subsequent MV intervention. The pre-CRT and follow-up echocardiograms were retrospectively reviewed for (1) MV and LV geometry measurements; (2) MR grade; and (3) LV remodeling indices...
September 12, 2017: Echocardiography
https://www.readbyqxmd.com/read/28892277/ungulates-increase-forest-plant-species-richness-to-the-benefit-of-non-forest-specialists
#5
Vincent Boulanger, Jean-Luc Dupouey, Frédéric Archaux, Vincent Badeau, Christophe Baltzinger, Richard Chevalier, Emmanuel Corcket, Yann Dumas, Françoise Forgeard, Anders Mårell, Pierre Montpied, Yoan Paillet, Jean-François Picard, Sonia Saïd, Erwin Ulrich
Large wild ungulates are a major biotic factor shaping plant communities. They influence species abundance and occurrence directly by herbivory and plant dispersal, or indirectly by modifying plant-plant interactions and through soil disturbance. In forest ecosystems, researchers' attention has been mainly focused on deer overabundance. Far less is known about the effects on understory plant dynamics and diversity of wild ungulates where their abundance is maintained at lower levels to mitigate impacts on tree regeneration...
September 11, 2017: Global Change Biology
https://www.readbyqxmd.com/read/28886535/groundwater-assessment-and-environmental-impact-in-the-abandoned-mine-of-kettara-morocco
#6
Julien Moyé, Tanguy Picard-Lesteven, Lahcen Zouhri, Khalid El Amari, Mohamed Hibti, Abdelfattah Benkaddour
Many questions about the soil pollution due to mining activities have been analyzed by numerous methods which help to evaluate the dispersion of the Metallic Trace Elements (MTE) in the soil and stream sediments of the abandoned mine of Kettara (Morocco). The transport of these MTE could have an important role in the degradation of groundwater and the health of people who are living in the vicinity. The present paper aims to evaluate the groundwater samples from 15 hydrogeological wells. This evaluation concerns the hydrogeological parameters, pH, Electrical conductivity, temperature and the groundwater level, and the geochemical assessment of Mg, Ca, Ti, Cr, Mn, Fe, Co, Ni, Zn, Cu, As, Se, Cd, Sb, Tl and Pb...
September 5, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28869610/mutations-in-actrt1-and-its-enhancer-rna-elements-lead-to-aberrant-activation-of-hedgehog-signaling-in-inherited-and-sporadic-basal-cell-carcinomas
#7
Elodie Bal, Hyun-Sook Park, Zakia Belaid-Choucair, Hülya Kayserili, Magali Naville, Marine Madrange, Elena Chiticariu, Smail Hadj-Rabia, Nicolas Cagnard, Francois Kuonen, Daniel Bachmann, Marcel Huber, Cindy Le Gall, Francine Côté, Sylvain Hanein, Rasim Özgür Rosti, Ayca Dilruba Aslanger, Quinten Waisfisz, Christine Bodemer, Olivier Hermine, Fanny Morice-Picard, Bruno Labeille, Frédéric Caux, Juliette Mazereeuw-Hautier, Nicole Philip, Nicolas Levy, Alain Taieb, Marie-Françoise Avril, Denis J Headon, Gabor Gyapay, Thierry Magnaldo, Sylvie Fraitag, Hugues Roest Crollius, Pierre Vabres, Daniel Hohl, Arnold Munnich, Asma Smahi
Basal cell carcinoma (BCC), the most common human cancer, results from aberrant activation of the Hedgehog signaling pathway. Although most cases of BCC are sporadic, some forms are inherited, such as Bazex-Dupré-Christol syndrome (BDCS)-a cancer-prone genodermatosis with an X-linked, dominant inheritance pattern. We have identified mutations in the ACTRT1 gene, which encodes actin-related protein T1 (ARP-T1), in two of the six families with BDCS that were examined in this study. High-throughput sequencing in the four remaining families identified germline mutations in noncoding sequences surrounding ACTRT1...
September 4, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28859929/cutaneous-and-renal-vasodilatory-response-to-local-pressure-application-a-comparative-study-in-mice
#8
Anne-Laure Begey, Kiao Ling Liu, Ming Lo, Audrey Josset-Lamaugarny, Nicolas Picard, Catherine Gauthier, Berengere Fromy, Dominique Sigaudo-Roussel, Laurence Dubourg
BACKGROUND AND AIM: We have reported a novel relationship involving mechanical stimulation and vasodilation in rodent and human skin, referred to as pressure-induced vasodilation (PIV). It is unknown whether this mechanism exists in kidney and reflects the microcirculation in deep organs. Therefore, we compared the skin and kidney PIV to determine whether their changes were similar. METHODS: In anesthetized mice fed a normal salt-diet, laser Doppler flux (LDF) signals were measured when an increase in local pressure was applied to the surface of the head skin with the rate of 2...
August 30, 2017: Microvascular Research
https://www.readbyqxmd.com/read/28852780/optimization-of-total-vaporization-solid-phase-microextraction-tv-spme-for-the-determination-of-lipid-profiles-of-phormia-regina-a-forensically-important-blow-fly-species
#9
William Kranz, Clinton Carroll, Darren Dixon, Christine Picard, John Goodpaster
A new method has been developed for the determination of fatty acids, sterols, and other lipids which naturally occur within pupae of the blow fly Phormia regina. The method relies upon liquid extraction in non-polar solvent, followed by derivatization using N,O-bis(trimethylsilyl)trifluoroacetamide (BSTFA) w/ 1% trimethylchlorsilane (TMCS) carried out inside the sample vial. The analysis is facilitated by total vaporization solid-phase microextraction (TV-SPME), with gas chromatography-mass spectrometry (GC-MS) serving as the instrumentation for analysis...
August 29, 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28844145/identification-of-biomarkers-associated-with-the-rearing-practices-carcass-characteristics-and-beef-quality-an-integrative-approach
#10
Mohammed Gagaoua, Valérie Monteils, Sébastien Couvreur, Brigitte Picard
Data from birth to slaughter of cull cows allowed using a PCA-based approach coupled with the iterative K-means algorithm the identification of three rearing practices classes. The classes were different in their carcass characteristics. Old cows raised mainly on pasture have better carcass characteristics, while having an equivalent tenderness, juiciness, flavor, intramuscular fat content, and pHu to those fattened with hay or haylage. The Longissimus thoracis muscle of the cows raised on pasture (with high physical activity) showed greater proportions of IIA fibers at the expense of the fast IIX ones...
September 11, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28838967/molecular-regulation-of-high-muscle-mass-in-developing-blonde-d-aquitaine-cattle-fetuses
#11
Isabelle Cassar-Malek, Céline Boby, Brigitte Picard, Antonio Reverter, Nicholas J Hudson
The Blonde d'Aquitaine (BA) is a French cattle breed with enhanced muscularity, partly attributable to a MSTN mutation. The BA m. Semitendinosus has a faster muscle fibre isoform phenotype comprising a higher proportion of fast type IIX fibres compared to age matched Charolais (CH). To better understand the molecular network of modifications in BA compared to CH muscle, we assayed the transcriptomes of the m. Semitendinosus at 110, 180, 210 and 260 days post conception (dpc). We used a combination of differential expression (DE) and Regulatory Impact Factors (RIF) to compare and contrast muscle gene expression between the breeds...
August 24, 2017: Biology Open
https://www.readbyqxmd.com/read/28838846/safety-of-coronary-ct-angiography-and-functional-testing-for-stable-chest-pain-in-the-promise-trial-a-randomized-comparison-of-test-complications-incidental-findings-and-radiation-dose
#12
Michael T Lu, Pamela S Douglas, James E Udelson, Elizabeth Adami, Brian B Ghoshhajra, Michael H Picard, Rhonda Roberts, Kerry L Lee, Andrew J Einstein, Daniel B Mark, Eric J Velazquez, William Carter, Michael Ridner, Hussein R Al-Khalidi, Udo Hoffmann
BACKGROUND: Coronary computed tomography angiography (CTA) and functional testing strategies for stable chest pain yield similar outcomes; one aspect that may guide test choice is safety. METHODS: We compared test safety (test complications, incidental findings, and effective radiation dose) between CTA and functional testing as-tested in PROMISE (PROspective Multicenter Imaging Study for Evaluation of Chest Pain). In the subgroup whose physicians intended nuclear stress over other functional tests if randomized to the functional arm, we compared radiation dose of CTA versus nuclear stress and identified characteristics associated with dose...
August 15, 2017: Journal of Cardiovascular Computed Tomography
https://www.readbyqxmd.com/read/28838362/improving-the-appropriate-use-of-transthoracic-echocardiography-the-echo-wisely-trial
#13
RANDOMIZED CONTROLLED TRIAL
R Sacha Bhatia, Noah M Ivers, X Cindy Yin, Dorothy Myers, Gillian C Nesbitt, Jeremy Edwards, Kibar Yared, Rishi K Wadhera, Justina C Wu, Aaron P Kithcart, Brian M Wong, Mark S Hansen, Adina S Weinerman, Steven Shadowitz, Debra Elman, Michael E Farkouh, Paaladinesh Thavendiranathan, Jacob A Udell, Amer M Johri, Chi-Ming Chow, Judith Hall, Zachary Bouck, Ashley Cohen, Kevin E Thorpe, Harry Rakowski, Michael H Picard, Rory B Weiner
BACKGROUND: Appropriate use criteria (AUC) have defined transthoracic echocardiogram (TTE) indications for which there is a clear lack of benefit as rarely appropriate (rA). OBJECTIVES: This study sought to investigate the impact of an AUC-based educational intervention on outpatient TTE ordering by cardiologists and primary care providers. METHODS: The authors conducted a prospective, investigator-blinded, multicenter, randomized controlled trial of an AUC-based educational intervention aimed at reducing rA outpatient TTEs...
August 29, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28837819/visual-exposure-and-categorization-performance-positively-influence-3-to-6-year-old-children-s-willingness-to-taste-unfamiliar-vegetables
#14
Camille Rioux, Jérémie Lafraire, Delphine Picard
The present research focuses on the effectiveness of visual exposure to vegetables in reducing food neophobia and pickiness among young children. We tested the hypotheses that (1) simple visual exposure to vegetables leads to an increase in the consumption of this food category, (2) diverse visual exposure to vegetables (i.e., vegetables varying in color are shown to children) leads to a greater increase in the consumption of this food category than classical exposure paradigms (i.e. the same mode of presentation of a given food across exposure sessions) and (3) visual exposure to vegetables leads to an increase in the consumption of this food category through a mediating effect of an increase in ease of categorization...
August 28, 2017: Appetite
https://www.readbyqxmd.com/read/28837524/the-association-between-drug-levels-and-endoscopic-recurrence-in-postoperative-patients-with-crohn-s-disease-treated-with-tumor-necrosis-factor-inhibitors
#15
Shmuel Fay, Bella Ungar, Stephane Paul, Asaf Levartovsky, Miri Yavzori, Ella Fudim, Orit Picard, Rami Eliakim, Shomron Ben-Horin, Xavier Roblin, Uri Kopylov
BACKGROUND: Endoscopic recurrence is associated with a risk of clinical recurrence in patients with Crohn's disease after ileocecal or small bowel resection. Drug levels and presence of antidrug antibodies are associated with important clinical and endoscopic outcomes in patients with Crohn's disease treated with tumor necrosis factor inhibitors, such association was not evaluated for endoscopic postsurgical recurrence. METHODS: Consecutive patients with Crohn's disease treated with anti-tumor necrosis factors after surgery were identified in the databases of the participating centers...
August 22, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28833649/adar1-splicing-mutation-leading-to-dyschromatosis-hereditaria-in-a-caucasian-patient
#16
J Petre, E Lasseaux, C Ged, B Arveiler, A Taïeb, F Morice-Picard
Dyschromatosis symmetrica hereditaria (DSH, OMIM 127400) is a rare autosomal dominant disorder characterized by hypo-and hyperpigmented macules on the dorsal aspects of hands and feet and freckle-like macules on the face(1). Histologically, there is an increase in epidermal melanin pigment in the hyperpigmented area and with normally structured melanosomes, together with an absence of melanin pigment in hypopigmented macules. The disease is known to be caused by mutations in the adenosine deaminase, RNA-specific (ADAR) gene (Miyamura et al...
August 21, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28828892/new-considerations-in-the-assessment-of-aortic-stenosis
#17
Lucy M Safi, Jonathan J Passeri, Michael H Picard
Calcific aortic stenosis (AS) is one of the most common acquired valvular heart diseases in industrialized nations. It is a slowly progressive disease and with the aging population, the prevalence of AS is expected to increase. Doppler echocardiography is used to classify patients based on severity of stenosis. Research efforts on how to better identify and risk-assess these patients are currently underway using advanced imaging modalities and serum biomarkers. Thus far, medications for AS prevention have been unsuccessful...
August 22, 2017: Future Cardiology
https://www.readbyqxmd.com/read/28825986/dissolution-of-particulate-phosphorus-in-pig-slurry-through-biological-acidification-a-critical-step-for-maximum-phosphorus-recovery-as-struvite
#18
Simon Piveteau, Sylvie Picard, Patrick Dabert, Marie-Line Daumer
Recycling phosphorus as struvite from pig slurry requires an acidification step to dissolve the inorganic solids containing most of the phosphorus. This study focused on the biological acidification of several pig slurries using sucrose as a model organic co-substrate. Lactic acid fermentation occurred systematically, dissolving 60-90% of TP (total phosphorus) and T-Mg (total magnesium) at pH 6 or lower. Optimal pH range for maximum P dissolution aimed at struvite recovery was 5.5-6. A simple model was developed correlating pH, sucrose and buffer capacity to optimize P dissolution and future recovery using real organic waste...
August 8, 2017: Water Research
https://www.readbyqxmd.com/read/28799238/everolimus-eluting-bioresorbable-vascular-scaffold-implantation-to-treat-saphenous-vein-graft-disease-single-center-initial-experience
#19
Fabien Picard, Guillaume Marquis-Gravel, Robert Avram, Hung Q Ly, Jean-François Dorval, Serge Doucet, Quentin de Hemptinne, Philippe L L'allier, Jean-François Tanguay
AIMS: Recent studies have shown favorable outcomes with everolimus-eluting bioresorbable vascular scaffold (BVS) in patients with stable coronary artery disease. Data on the use of BVS in saphenous vein graft disease (SVG) is currently lacking. METHODS AND RESULTS: A total of 10 consecutive patients (13 lesions, including 6 in-stent restenosis) who underwent BVS for SVG disease between May 2013 and June 2015 at a tertiary care institution were included. Median follow-up period was 874 (720-926) days...
August 10, 2017: Journal of Interventional Cardiology
https://www.readbyqxmd.com/read/28795327/biomonitoring-of-coastal-pollution-in-the-gulf-of-gabes-se-tunisia-use-of-posidonia-oceanica-seagrass-as-a-bioindicator-and-its-mat-as-an-archive-of-coastal-metallic-contamination
#20
Radhouan El Zrelli, Pierre Courjault-Radé, Lotfi Rabaoui, Nabil Daghbouj, Lamjed Mansour, Rafik Balti, Sylvie Castet, Faouzi Attia, Sylvain Michel, Nejla Bejaoui
Within the framework of a study on the extent and history of marine pollution in the central area of Gabes Gulf, the concentrations of four trace metals (Cd, Cu, Pb, and Zn) were assessed in three different tissues of the seagrass species, Posidonia oceanica (leaves, rhizomes, and roots), in the mat of P. oceanica meadows at different depths from the sea floor (- 30 to - 150 cm) and in sediments. The results showed that P. oceanica leaves accumulate more Cd, Cu, and Zn, whereas Pb was found to be more concentrated in roots...
August 10, 2017: Environmental Science and Pollution Research International
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