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https://www.readbyqxmd.com/read/29786897/targeted-next-generation-sequencing-for-the-diagnosis-of-patients-with-rare-congenital-anemias
#1
Noa Shefer Averbuch, Orna Steinberg-Shemer, Orly Dgany, Tanya Krasnov, Sharon Noy-Lotan, Joanne Yacobovich, Amir A Kuperman, Antonis Kattamis, Ayelet Ben Barak, Batia Roth-Jelinek, Evgeni Chubar, Evelyn Shabad, Gustavo Dufort, Martin Ellis, Ofir Wolach, Idit Pazgal, Abed Abu Quider, Hagit Miskin, Hannah Tamary
BACKGROUND: Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the large number of genes involved in rare anemias and the similarities in the clinical presentation of the different syndromes. OBJECTIVE: We aimed to enhance the diagnosis of patients with congenital anemias by using targeted next-generation sequencing...
May 22, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29785966/novel-prep-less-x-ray-imaging-capsule-for-colon-cancer-screening-a-feasibility-study
#2
Nathan Gluck, Elizabeth E Half, Vered Bieber, Doron Schwartz, Yulia Ron, Ian Gralnek, Amir Klein, Jesse Lachter, Moshe Shoni Levy, Menachem Moshkowitz, Nadir Arber
No abstract text is available yet for this article.
May 21, 2018: Gut
https://www.readbyqxmd.com/read/29785784/enantioselective-micellar-electrokinetic-chromatography-of-dl-amino-acids-using-1-9-fluorenyl-ethyl-chloroformate-derivatization-and-uv-induced-fluorescence-detection
#3
Amir Prior, Erik van de Nieuwenhuijzen, Gerhardus J de Jong, Govert W Somsen
Chiral analysis of dl-amino acids was achieved by micellar electrokinetic chromatography coupled with UV-excited fluorescence detection. The fluorescent reagent (+)-1-(9-fluorenyl)ethyl chloroformate was employed as chiral amino acid derivatizing agent and sodium dodecyl sulfate served as pseudo-stationary phase for separating the formed amino acid diastereomers. Sensitive analysis of (+)-1-(9-fluorenyl)ethyl chloroformate-amino acids was achieved applying a xenon-mercury lamp for ultraviolet excitation, and a spectrograph and charge-coupled device for wavelength-resolved emission detection...
May 22, 2018: Journal of Separation Science
https://www.readbyqxmd.com/read/29785581/anti-jc-virus-antibody-sera-positivity-and-index-value-among-patients-with-multiple-sclerosis-may-be-correlated-with-age-sex-and-area-of-residence
#4
Sogol Koolaji, Narges Sistany Allahabadi, Arash Ahmadi, Sharareh Eskandarieh, Abdorreza Naser Moghadasi, Amir Reza Azimi, Mohammad Ali Sahraian
Anti-JC virus (JCV) antibody index is the predictive factor of progressive multifocal leukoencephalopathy (PML) for multiple sclerosis (MS) patients treating with natalizumab. The aim of this study is to evaluate the prevalence of anti-JCV antibody positivity and index among Iranian patients who are the candidate for natalizumab and its correlation with their demographic data and previous therapies. A cross-sectional design was assessed for receiving anti-JCV antibody test results between January 2014 and December 2016...
May 21, 2018: Journal of Neurovirology
https://www.readbyqxmd.com/read/29785237/early-onset-of-clinical-improvement-with-ixekizumab-in-a-randomized-open-label-study-of-patients-with-moderate-to-severe-plaque-psoriasis
#5
Saakshi Khattri, Orin Goldblum, Kathleen Solotkin, Yasmin Amir, Michelle S Min, Terri Ridenour, Fan Emily Yang, Mark Lebwohl
Objective: The purpose of this study was to evaluate the speed of onset of clinical response to ixekizumab (IXE) and assess the progression of visible improvement in patients with moderate-to-severe plaque psoriasis. Design: This was an interventional, randomized, open-label, Phase IIIb clinical trial. Setting: This was a single center study at the Mount Sinai School of Medicine. Participants: Twelve patients were randomized at a ratio of 1:1 to receive 80mg of ixekizumab every two (IXE Q2W) or four (IXE Q4W) weeks following a starting dose of 160mg of ixekizumab...
May 2018: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/29784623/regional-myocardial-strain-measurements-from-4dct-in-patients-with-normal-lv-function
#6
Elliot R McVeigh, Amir Pourmorteza, Michael Guttman, Veit Sandfort, Francisco Contijoch, Suhas Budhiraja, Zhennong Chen, David A Bluemke, Marcus Y Chen
BACKGROUND: CT SQUEEZ is a new automated technique to evaluate regional endocardial strain by tracking features on the endocardium from 4D cine CT data. The objective of this study was to measure the range of endocardial regional strain (RSCT ) values obtained with CT SQUEEZ in the normal human left ventricle (LV) from standard clinical 4D coronary CTA exams. METHODS: RSCT was measured over the heart cycle in 25 humans with normal LV function using cine CT from three vendors...
May 9, 2018: Journal of Cardiovascular Computed Tomography
https://www.readbyqxmd.com/read/29784607/telestroke-adoption-among-community-hospitals-in-north-carolina-a-cross-sectional-study
#7
Christopher M Shea, Amir Alishahi Tabriz, Kea Turner, Steve North, Kristin L Reiter
OBJECTIVE: This study identifies community and hospital characteristics associated with adoption of telestroke among acute care hospitals in North Carolina (NC). METHODS: Our sample included 107 hospitals located in NC. Our analytic dataset included variables from the American Hospital Association (AHA) annual survey, AHA Health IT supplement, Healthcare Cost Report Information System, and Centers for Disease Control and Prevention's WONDER online database. We supplemented our secondary sources with data on telestroke adoption and market-level variables developed for NC...
May 18, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29784539/revisiting-antithrombin-in-health-and-disease-congenital-deficiencies-and-genetic-variants-and-laboratory-studies-on-%C3%AE-and-%C3%AE-forms
#8
REVIEW
Jean Amiral, Jerard Seghatchian
Antithrombin [AT] is the main inhibitor for activated plasma coagulation serine esterases, inhibiting thrombin, Factors Xa and IXa, but also Factors XIIa, XIa, VIIa, kallicrein, and plasmin. Its activity is highly enhanced by heparin, through binding to the pentasaccharide sequences, for inhibition of all coagulation proteases, except thrombin, which inhibition requires its additional binding to the heparin polysaccharide chain. However, AT is the major inhibitor of thrombin in the blood circulation. Congenital or acquired deficiencies of AT expose affected patients to an increased risk of developing unprovoked and recurrent thrombo-embolic diseases...
April 19, 2018: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29784020/atrioventricular-block-after-acute-myocardial-infarction-and-its-association-with-other-clinical-parameters-in-pakistani-patients-an-institutional-perspective
#9
Kashif Ali Hashmi, Amir Shehzad, Atif Ali Hashmi, Amir Khan
OBJECTIVES: Conduction defects complicating acute myocardial infarction are frequently associated with increased morbidity and mortality. As frequency of this complication has not been widely studied in our population, therefore in this study we aimed to evaluate the frequency of complete atrioventricular block in patients with acute ST segment elevation myocardial infarction and its association with other clinical parameters. RESULTS: The mean age of the patients was 50...
May 21, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29783269/adding-paracetamol-to-ibuprofen-for-the-treatment-of-patent-ductus-arteriosus-in-preterm-infants-a-double-blind-randomized-placebo-controlled-pilot-study
#10
Ori Hochwald, Gur Mainzer, Liron Borenstein-Levin, Huda Jubran, Gil Dinur, Meirav Zucker, Malka Mor, Asaad Khoury, Amir Kugelman
OBJECTIVE:  The objective of this study was to compare the closure rate of hemodynamically significant patent ductus arteriosus (hsPDA) of intravenous ibuprofen + paracetamol (acetaminophen) versus ibuprofen + placebo, in preterm infants of 24 to 316/7 weeks postmenstrual age. STUDY DESIGN:  This is a single-center, double-blind, randomized controlled pilot study. Infants were assigned for treatment with either intravenous ibuprofen + paracetamol ( n  = 12) or ibuprofen + placebo ( n  = 12)...
May 21, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29783118/placenta-derived-mesenchymal-stromal-cells-and-their-exosomes-exert-therapeutic-effects-in-duchenne-muscular-dystrophy
#11
Ariel Bier, Peter Berenstein, Noam Kronfeld, Daria Morgoulis, Amotz Ziv-Av, Hodaya Goldstein, Gila Kazimirsky, Simona Cazacu, Rinat Meir, Rachela Popovtzer, Amir Dori, Chaya Brodie
Duchenne muscular dystrophy (DMD) is a degenerative lethal, X-linked disease of skeletal and cardiac muscles caused by mutations in the dystrophin gene. Cell therapy using different cell types, including mesenchymal stromal cells (MSCs), has been considered as a potential approach for the treatment of DMD. MSCs can be obtained from autologous sources such as bone marrow and adipose tissues or from allogeneic placenta and umbilical cord. The safety and therapeutic impact of these cells has been demonstrated in pre-clinical and clinical studies and their functions are attributed to paracrine effects that are mediated by secreted cytokines and extracellular vesicles...
May 3, 2018: Biomaterials
https://www.readbyqxmd.com/read/29782976/ldiscu-is-a-2fe-2s-scaffold-protein-which-interacts-with-ldiscs-and-its-expression-is-modulated-by-fe-s-proteins-in-leishmania-donovani
#12
Krishn Pratap Singh, Shadab Anwar, Amir Zaidi, Kuljit Singh, Pradeep Das, Samudrala Gourinath, Vahab Ali
The pathogenicity of protozoan parasites is frequently attributed to their ability to circumvent the deleterious effects of ROS and Fe-S clusters are among their susceptible targets with paramount importance for parasite survival. The biogenesis of Fe-S clusters is orchestrated by ISC system; the sulfur donor IscS and scaffold protein IscU being its core components. However, among protozoan parasites including Leishmania, no information is available regarding biochemical aspect of IscU, its interaction partners and regulation...
May 18, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29781726/in-vitro-analysis-of-glucose-and-quercetin-effects-on-m-tor-and-nrf-2-expression-in-hepg2-cell-line-diabetes-and-cancer-connection
#13
Amir Yarahmadi, Fatemeh Khademi, Zohreh Mostafavi-Pour, Fatemeh Zal
Some types of cancers show a strong relationship with diabetes and play a central role in mortality in the patient population suffering from diabetes mellitus. In this study, HepG2 cells have been used to investigate the toxic effects of hyperglycemia and/or quercetin (Q) on mammalian target of rapamycin (m-TOR) and nuclear factor erythroid 2-related factor 2 (Nrf-2) expression as central molecules involved in cancer. HepG2 cells were cultured with different concentrations of glucose (5.5, 30, and 50 mM) and/or Q (25 µM) for 48 and 72 h...
May 21, 2018: Nutrition and Cancer
https://www.readbyqxmd.com/read/29781212/routinely-collected-infant-feeding-data-time-for-global-action
#14
Heather Whitford, Pat Hoddinott, Lisa H Amir, Catherine Chamberlain, Christine E East, Leanne Jones, Mary J Renfrew
The importance of breastfeeding is clear. However, global action to support breastfeeding is hindered by the lack of reliable standard data, which continues to impede progress. Routinely collected data can monitor the effectiveness of health policy, evaluate interventions, and enhance international research collaboration and comparisons. Use of routine data to support effective public health initiatives such as smoking cessation has been demonstrated. However, the data collected about infant feeding practices worldwide is inconsistent in timing, methods, definitions, detail, storage, and consistency...
May 21, 2018: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/29780924/disseminated-nocardiosis-with-retinal-abscess-in-a-patient-treated-for-bullous-pemphigoid
#15
Sidharth Puri, Amir Hadayer, Andrea Breaux, Charles C Barr
Purpose: To report a case of disseminated Nocardiosis with retinal and intracranial lesions. Observations: A 49-year-old woman immunosuppressed because of treatment given for bullous pemphigoid presented with altered mental status and multiple intracranial lesions on imaging. The patient was found to have multiple retinal lesions in both eyes, including a subretinal abscess in the right eye. The patient underwent brain biopsy, confirming Nocardia farcinica histopathologically and in culture...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29780921/is-it-melanoma-associated-retinopathy-or-drug-toxicity-bilateral-cystoid-macular-edema-posing-a-diagnostic-and-therapeutic-dilemma
#16
Sachi R Patel, Stavros N Moysidis, Nicole Koulisis, Philip P Storey, Amir H Kashani, Narsing A Rao, Damien C Rodger
Purpose: To report the clinical presentation, multimodal imaging, and management of a patient with metastatic melanoma who presented with cystoid macular edema (CME). Observations: We report a case of a 71-year-old Caucasian male with metastatic melanoma who presented with bilateral cystoid macular edema after being on treatment with a programmed T cell death ligand 1 inhibitor, MPDL3280, for 1 year. Multimodal imaging techniques, including color fundus photographs, autofluorescence, spectral domain optical coherence tomography (OCT), fluorescein angiography (Spectralis, Heidelberg, Germany), and spectral-domain OCT angiography (Zeiss; California, USA) were performed to evaluate the etiology of his CME and to monitor his response to treatment...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29780379/point-mutation-of-a-non-elastase-binding-site-in-human-%C3%AE-1-antitrypsin-alters-its-anti-inflammatory-properties
#17
Yotam Lior, Mariana Zaretsky, David E Ochayon, Diana Lotysh, Boris M Baranovski, Ronen Schuster, Ofer Guttman, Amir Aharoni, Eli C Lewis
Introduction: Human α1-antitrypsin (hAAT) is a 394-amino acid long anti-inflammatory, neutrophil elastase inhibitor, which binds elastase via a sequence-specific molecular protrusion (reactive center loop, RCL; positions 357-366). hAAT formulations that lack protease inhibition were shown to maintain their anti-inflammatory activities, suggesting that some attributes of the molecule may reside in extra-RCL segments. Here, we compare the protease-inhibitory and anti-inflammatory profiles of an extra-RCL mutation (cys232pro) and two intra-RCL mutations (pro357cys, pro357ala), to naïve [wild-type (WT)] recombinant hAAT, in vitro , and in vivo ...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29779587/meta-analysis-of-studies-comparing-dual-versus-mono-antiplatelet-therapy-following-transcatheter-aortic-valve-implantation
#18
Shadi Al Halabi, Joshua Newman, Michael E Farkouh, David Fortuin, Fred Leya, John Sweeney, Amir Darki, John Lopez, Lowell Steen, Bruce Lewis, John Webb, Martin B Leon, Verghese Mathew
Current guidelines recommend dual-antiplatelet therapy (DAPT) after transcatheter aortic valve implantation (TAVI), although some studies suggest mono-antiplatelet therapy is equally efficacious with an improved safety profile. We performed a meta-analysis of studies comparing DAPT with mono-antiplatelet therapy after TAVI. Study quality and heterogeneity were assessed using Jadad score, Newcastle-Ottawa Scale, and Cochran's Q statistics. Mantel-Haenszel odds ratios (ORs) were calculated using fixed effect models as the primary analysis...
March 28, 2018: American Journal of Cardiology
https://www.readbyqxmd.com/read/29779483/a-review-on-pharmacological-and-clinical-aspects-of-linum-usitatissimum-l
#19
Ramin Ansari, Mohammad Mehdi Zarshenas, Amir Hossein Dadbakhsh
INTRODUCTION AND BACKGROUND: Linum usitatissimum L., known as common Flax or linseed, from the family Linnaceae, has long been cultivated in different nations due to its applications in medicine and industry. The present study aims to collect nearly all available information about chemical constituents of Flax, as well as pharmacological properties and confirmed clinical usages of it. METHODS: We searched through databases such as Scopus and PubMed for relevant literatures using the keywords: (Linum usitatissimum), (pharmacology) and (phytochemical) from the beginning to 13 Aug 2017...
May 20, 2018: Current Drug Discovery Technologies
https://www.readbyqxmd.com/read/29778715/photopheresis-of-a-less-than-10-kg-child-with-acute-graft-versus-host-disease-accompanied-with-hyperbilirubinemia-a-case-report
#20
REVIEW
Ashraf Malek Mohammadi, Amir Hossein Norooznezhad, Jerard Seghatchian, Mohsen Nikbakht, Farhad Heshmati, Saeed Mohammadi, Kamran Alimoghaddam, Ardeshir Ghavamzadeh
Hematopoietic stem cell transplantation is a curative treatment for many hematologic malignancies with its most important side effect being graft-versus-host disease (GVHD). Herein, we present a 3.5 year-old male with weight of 9.8 kg with acute GVHD (grade IV gastrointestinal and cutaneous) who did not respond to the first line therapies (corticosteroids). Thus, the patient was a candidate for extracorporeal photochemotherapy (ECP). Due to the hyperbilirubinemia, two sessions of ECP every week as well as one session of plasmapheresis 24 h before each ECP session were performed (Spectra™ Optia® apheresis system)...
May 9, 2018: Transfusion and Apheresis Science
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