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https://www.readbyqxmd.com/read/27890707/novel-mutation-in-dock8-hies-with-severe-phenotype-and-successful-transplantation
#1
Latifa Al Shekaili, Farrukh Sheikh, Sulaiman Al Gazlan, Hasan Al Dhekri, Hamoud Al Mousa, Abdulaziz Al Ghonaium, Bander Al Saud, Saleh Al Mohsen, Agha M Rehan Khaliq, Safiah Al Sumayli, Mufarreh Al Zahrani, Anas Dababo, Ammar AlKawi, Abbas Hawwari, Rand Arnaout
BACKGROUND: Hyper-IgE syndrome (HIES) due to DOCK8 deficiency is an autosomal recessive (AR) primary combined immunodeficiency which results in significant morbidity and mortality at a young age. Different mutations in the DOCK8 gene can lead to variable severity of the disease. OBJECTIVE: We evaluated the genetic mutations in three related patients with severe clinical manifestations suggestive of AR HIES. We also explored whether treatment with stem cell transplantation could lead to complete disease resolution...
November 23, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/26253380/long-circulating-lipoprotein-mimic-nanoparticles-for-smart-intravenous-delivery-of-a-practically-insoluble-antineoplastic-drug-development-preliminary-safety-evaluations-and-preclinical-pharmacokinetic-studies
#2
Mina Ibrahim Tadros, Abdulaziz Mohsen Al-Mahallawi
Chlorambucil (CHL) is a water-insoluble antineoplastic drug having a short elimination half-life. It suffers from remarkable differences in pharmacokinetics following oral administration. The current work aimed to assess safety and pharmacokinetics of CHL-loaded, lipoprotein-mimic, nanoparticles (NPs) following intravenous administration. The design of NPs was based on complexation between egg yolk lecithin (EYL) and bovine serum albumin (BSA). The NPs were preliminary evaluated via FT-IR, DSC and P-XRD. The NPs were characterized for particle size, zeta potential, morphology and drug entrapment efficiency (EE%)...
September 30, 2015: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/25459700/an-investigation-on-the-effect-of-high-partial-pressure-of-hydrogen-on-the-nanocrystalline-structure-of-silicon-carbide-thin-films-prepared-by-radio-frequency-magnetron-sputtering
#3
Mohsen Daouahi, Mourad Omri, Abdul Ghani Yousseph Kerm, Faisal Abdulaziz Al-Agel, Najeh Rekik
The aim of the study reported in this paper is to investigate the role of the high partial pressure of hydrogen introduced during the growth of nanocrystalline silicon carbide thin films (nc-SiC:H). For this purpose, we report the preparation as well as spectroscopic studies of four series of nc-SiC:H obtained by radio-frequency magnetron sputtering at high partial pressure of hydrogen by varying the percentage of H2 in the gas mixture from 70% to 100% at common substrate temperature (TS=500°C). The effects of the dilution on the structural changes and the chemical bonding of the different series have been studied using Fourier transform infrared and Raman spectroscopy...
February 5, 2015: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/24971692/nano-transfersomal-ciprofloxacin-loaded-vesicles-for-non-invasive-trans-tympanic-ototopical-delivery-in-vitro-optimization-ex-vivo-permeation-studies-and-in-vivo-assessment
#4
Abdulaziz Mohsen Al-Mahallawi, Omneya Mohammed Khowessah, Raguia Ali Shoukri
Ciprofloxacin is a synthetic fluoroquinolone antibiotic that has been used for systemic treatment of otitis media in adults. It was approved for topical treatment of otorrhea in children with tympanostomy tubes. The aim of this work was to enhance the local non-invasive delivery of ciprofloxacin to the middle ear across an intact tympanic membrane (TM) in an attempt to treat acute otitis media (AOM) ototopically. In order to achieve this goal, ciprofloxacin nano-transfersomal vesicles were prepared by thin film hydration (TFH) technique, using several edge activators (EAs) of varying hydrophilic-lipophilic balance (HLB) values...
September 10, 2014: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/24797572/global-regional-and-national-levels-of-neonatal-infant-and-under-5-mortality-during-1990-2013-a-systematic-analysis-for-the-global-burden-of-disease-study-2013
#5
MULTICENTER STUDY
Haidong Wang, Chelsea A Liddell, Matthew M Coates, Meghan D Mooney, Carly E Levitz, Austin E Schumacher, Henry Apfel, Marissa Iannarone, Bryan Phillips, Katherine T Lofgren, Logan Sandar, Rob E Dorrington, Ivo Rakovac, Troy A Jacobs, Xiaofeng Liang, Maigeng Zhou, Jun Zhu, Gonghuan Yang, Yanping Wang, Shiwei Liu, Yichong Li, Ayse Abbasoglu Ozgoren, Semaw Ferede Abera, Ibrahim Abubakar, Tom Achoki, Ademola Adelekan, Zanfina Ademi, Zewdie Aderaw Alemu, Peter J Allen, Mohammad AbdulAziz AlMazroa, Elena Alvarez, Adansi A Amankwaa, Azmeraw T Amare, Walid Ammar, Palwasha Anwari, Solveig Argeseanu Cunningham, Majed Masoud Asad, Reza Assadi, Amitava Banerjee, Sanjay Basu, Neeraj Bedi, Tolesa Bekele, Michelle L Bell, Zulfiqar Bhutta, Jed D Blore, Berrak Bora Basara, Soufiane Boufous, Nicholas Breitborde, Nigel G Bruce, Linh Ngoc Bui, Jonathan R Carapetis, Rosario Cárdenas, David O Carpenter, Valeria Caso, Ruben Estanislao Castro, Ferrán Catalá-Lopéz, Alanur Cavlin, Xuan Che, Peggy Pei-Chia Chiang, Rajiv Chowdhury, Costas A Christophi, Ting-Wu Chuang, Massimo Cirillo, Iuri da Costa Leite, Karen J Courville, Lalit Dandona, Rakhi Dandona, Adrian Davis, Anand Dayama, Kebede Deribe, Samath D Dharmaratne, Mukesh K Dherani, Uğur Dilmen, Eric L Ding, Karen M Edmond, Sergei Petrovich Ermakov, Farshad Farzadfar, Seyed-Mohammad Fereshtehnejad, Daniel Obadare Fijabi, Nataliya Foigt, Mohammad H Forouzanfar, Ana C Garcia, Johanna M Geleijnse, Bradford D Gessner, Ketevan Goginashvili, Philimon Gona, Atsushi Goto, Hebe N Gouda, Mark A Green, Karen Fern Greenwell, Harish Chander Gugnani, Rahul Gupta, Randah Ribhi Hamadeh, Mouhanad Hammami, Hilda L Harb, Simon Hay, Mohammad T Hedayati, H Dean Hosgood, Damian G Hoy, Bulat T Idrisov, Farhad Islami, Samaya Ismayilova, Vivekanand Jha, Guohong Jiang, Jost B Jonas, Knud Juel, Edmond Kato Kabagambe, Dhruv S Kazi, Andre Pascal Kengne, Maia Kereselidze, Yousef Saleh Khader, Shams Eldin Ali Hassan Khalifa, Young-Ho Khang, Daniel Kim, Yohannes Kinfu, Jonas M Kinge, Yoshihiro Kokubo, Soewarta Kosen, Barthelemy Kuate Defo, G Anil Kumar, Kaushalendra Kumar, Ravi B Kumar, Taavi Lai, Qing Lan, Anders Larsson, Jong-Tae Lee, Mall Leinsalu, Stephen S Lim, Steven E Lipshultz, Giancarlo Logroscino, Paulo A Lotufo, Raimundas Lunevicius, Ronan Anthony Lyons, Stefan Ma, Abbas Ali Mahdi, Melvin Barrientos Marzan, Mohammad Taufiq Mashal, Tasara T Mazorodze, John J McGrath, Ziad A Memish, Walter Mendoza, George A Mensah, Atte Meretoja, Ted R Miller, Edward J Mills, Karzan Abdulmuhsin Mohammad, Ali H Mokdad, Lorenzo Monasta, Marcella Montico, Ami R Moore, Joanna Moschandreas, William T Msemburi, Ulrich O Mueller, Magdalena M Muszynska, Mohsen Naghavi, Kovin S Naidoo, K M Venkat Narayan, Chakib Nejjari, Marie Ng, Jean de Dieu Ngirabega, Mark J Nieuwenhuijsen, Luke Nyakarahuka, Takayoshi Ohkubo, Saad B Omer, Angel J Paternina Caicedo, Victoria Pillay-van Wyk, Dan Pope, Farshad Pourmalek, Dorairaj Prabhakaran, Sajjad U R Rahman, Saleem M Rana, Robert Quentin Reilly, David Rojas-Rueda, Luca Ronfani, Lesley Rushton, Mohammad Yahya Saeedi, Joshua A Salomon, Uchechukwu Sampson, Itamar S Santos, Monika Sawhney, Jürgen C Schmidt, Marina Shakh-Nazarova, Jun She, Sara Sheikhbahaei, Kenji Shibuya, Hwashin Hyun Shin, Kawkab Shishani, Ivy Shiue, Inga Dora Sigfusdottir, Jasvinder A Singh, Vegard Skirbekk, Karen Sliwa, Sergey S Soshnikov, Luciano A Sposato, Vasiliki Kalliopi Stathopoulou, Konstantinos Stroumpoulis, Karen M Tabb, Roberto Tchio Talongwa, Carolina Maria Teixeira, Abdullah Sulieman Terkawi, Alan J Thomson, Andrew L Thorne-Lyman, Hideaki Toyoshima, Zacharie Tsala Dimbuene, Parfait Uwaliraye, Selen Begüm Uzun, Tommi J Vasankari, Ana Maria Nogales Vasconcelos, Vasiliy Victorovich Vlassov, Stein Emil Vollset, Stephen Waller, Xia Wan, Scott Weichenthal, Elisabete Weiderpass, Robert G Weintraub, Ronny Westerman, James D Wilkinson, Hywel C Williams, Yang C Yang, Gokalp Kadri Yentur, Paul Yip, Naohiro Yonemoto, Mustafa Younis, Chuanhua Yu, Kim Yun Jin, Maysaa El Sayed Zaki, Shankuan Zhu, Theo Vos, Alan D Lopez, Christopher J L Murray
BACKGROUND: Remarkable financial and political efforts have been focused on the reduction of child mortality during the past few decades. Timely measurements of levels and trends in under-5 mortality are important to assess progress towards the Millennium Development Goal 4 (MDG 4) target of reduction of child mortality by two thirds from 1990 to 2015, and to identify models of success. METHODS: We generated updated estimates of child mortality in early neonatal (age 0-6 days), late neonatal (7-28 days), postneonatal (29-364 days), childhood (1-4 years), and under-5 (0-4 years) age groups for 188 countries from 1970 to 2013, with more than 29,000 survey, census, vital registration, and sample registration datapoints...
September 13, 2014: Lancet
https://www.readbyqxmd.com/read/24029258/clinical-presentation-and-etiology-of-osteomalacia-rickets-in-adolescents
#6
Mohammad A Hazzazi, Ibrahim Alzeer, Waleed Tamimi, Mohsen Al Atawi, Ibrahim Al Alwan
This study was conducted to determine the causes and clinical presentations of osteomalacia/rickets in adolescents seen at the King Abdulaziz Medical City (KAMC), Riyadh. Because osteomalacia and rickets constitute the same entity, the term osteomalacia will be used for future discussion. A retrospective file review was performed on all adolescents (10-16 years) with osteomalacia, defined as alkaline phosphatase levels ≥500 IU/L, seen at the KAMC, Riyadh, from 2000 to 2006. We recorded the signs and symptoms, dietary history and amount of sun exposure at presentation...
September 2013: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/19683193/ocular-manifestations-in-chronic-granulomatous-disease-in-saudi-arabia
#7
Saleh Al-Muhsen, Amal Al-Hemidan, Amer Al-Shehri, Abdullah Al-Harbi, Abdulaziz Al-Ghonaium, Bandar Al-Saud, Hamoud Al-Mousa, Hasan Al-Dhekri, Rand Arnaout, Ibrahim Al-Mohsen, Osama Alsmadi
INTRODUCTION: Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by a genetic defect in the NADPH oxidase complex of phagocytic cells. Recent reports indicate that chorioretinal lesions are more common than previously suspected. In this study, ocular findings of CGD patients are described with particular emphasis on chorioretinal lesions as a potentially serious ocular complication of CGD. METHODS: Medical records of CGD patients attending an immunodeficiency clinic at a tertiary care center from January 2004 to December 2006 were reviewed...
August 2009: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/18246247/role-of-prazosin-on-cardiovascular-manifestations-and-pulmonary-edema-following-severe-scorpion-stings-in-saudi-arabia
#8
COMPARATIVE STUDY
Abdulrahman K Al-Asmari, Abdulaziz A Al-Seif, Mohsen A Hassen, Nabil A Abdulmaksood
We report the ameliorating effects of prazosin on the cardiovascular CV manifestations and pulmonary edema PE after treatment with antivenom AV failed to improve the conditions of scorpion stung patients. Three cases of scorpion envenoming, 2 children and one adult, were received at the Accident and Emergency Department of Al-Birk Hospital, Asir Region, Saudi Arabia. They presented to the hospital late with features of severe perspiration, tachypnea, restlessness, drooling of saliva, priapism, sinus tachycardia, PE, and shock like syndrome...
February 2008: Saudi Medical Journal
https://www.readbyqxmd.com/read/15924140/gains-of-glycosylation-comprise-an-unexpectedly-large-group-of-pathogenic-mutations
#9
Guillaume Vogt, Ariane Chapgier, Kun Yang, Nadia Chuzhanova, Jacqueline Feinberg, Claire Fieschi, Stéphanie Boisson-Dupuis, Alexandre Alcais, Orchidée Filipe-Santos, Jacinta Bustamante, Ludovic de Beaucoudrey, Ibrahim Al-Mohsen, Sami Al-Hajjar, Abdulaziz Al-Ghonaium, Parisa Adimi, Mehdi Mirsaeidi, Soheila Khalilzadeh, Sergio Rosenzweig, Oscar de la Calle Martin, Thomas R Bauer, Jennifer M Puck, Hans D Ochs, Dieter Furthner, Carolin Engelhorn, Bernd Belohradsky, Davood Mansouri, Steven M Holland, Robert D Schreiber, Laurent Abel, David N Cooper, Claire Soudais, Jean-Laurent Casanova
Mutations involving gains of glycosylation have been considered rare, and the pathogenic role of the new carbohydrate chains has never been formally established. We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creating a new N-glycosylation site in the IFNgammaR2 chain. The resulting additional carbohydrate moiety was both necessary and sufficient to abolish the cellular response to IFNgamma. We then searched the Human Gene Mutation Database for potential gain-of-N-glycosylation missense mutations; of 10,047 mutations in 577 genes encoding proteins trafficked through the secretory pathway, we identified 142 candidate mutations ( approximately 1...
July 2005: Nature Genetics
https://www.readbyqxmd.com/read/12637671/pyogenic-bacterial-infections-in-humans-with-irak-4-deficiency
#10
Capucine Picard, Anne Puel, Marion Bonnet, Cheng-Lung Ku, Jacinta Bustamante, Kun Yang, Claire Soudais, Stéphanie Dupuis, Jacqueline Feinberg, Claire Fieschi, Carole Elbim, Remi Hitchcock, David Lammas, Graham Davies, Abdulaziz Al-Ghonaium, Hassan Al-Rayes, Sulaiman Al-Jumaah, Sami Al-Hajjar, Ibrahim Zaid Al-Mohsen, Husn H Frayha, Rajivi Rucker, Thomas R Hawn, Alan Aderem, Haysam Tufenkeji, Soichi Haraguchi, Noorbibi K Day, Robert A Good, Marie-Anne Gougerot-Pocidalo, Adrian Ozinsky, Jean-Laurent Casanova
Members of the Toll-like receptor (TLR) and interleukin-1 receptor (IL-1R) superfamily share an intracytoplasmic Toll-IL-1 receptor (TIR) domain, which mediates recruitment of the interleukin-1 receptor-associated kinase (IRAK) complex via TIR-containing adapter molecules. We describe three unrelated children with inherited IRAK-4 deficiency. Their blood and fibroblast cells did not activate nuclear factor kappaB and mitogen-activated protein kinase (MAPK) and failed to induce downstream cytokines in response to any of the known ligands of TIR-bearing receptors...
March 28, 2003: Science
https://www.readbyqxmd.com/read/12590259/impaired-response-to-interferon-alpha-beta-and-lethal-viral-disease-in-human-stat1-deficiency
#11
Stéphanie Dupuis, Emmanuelle Jouanguy, Sami Al-Hajjar, Claire Fieschi, Ibrahim Zaid Al-Mohsen, Suliman Al-Jumaah, Kun Yang, Ariane Chapgier, Céline Eidenschenk, Pierre Eid, Abdulaziz Al Ghonaium, Haysam Tufenkeji, Husn Frayha, Suleiman Al-Gazlan, Hassan Al-Rayes, Robert D Schreiber, Ion Gresser, Jean-Laurent Casanova
The receptors for interferon-alpha/beta (IFN-alpha/beta) and IFN-gamma activate components of the Janus kinase-signal transducer and activator of transcription (JAK-STAT) signaling pathway, leading to the formation of at least two transcription factor complexes. STAT1 interacts with STAT2 and p48/IRF-9 to form the transcription factor IFN-stimulated gene factor 3 (ISGF3). STAT1 dimers form gamma-activated factor (GAF). ISGF3 is induced mainly by IFN-alpha/beta, and GAF by IFN-gamma, although both factors can be activated by both types of IFN...
March 2003: Nature Genetics
https://www.readbyqxmd.com/read/12176299/effect-of-inclusion-complexation-with-cyclodextrins-on-photostability-of-nifedipine-in-solid-state
#12
Mohsen A Bayomi, Khalid A Abanumay, Abdulaziz A Al-Angary
Nifedipine is a highly photosensitive drug that requires restricted protection from light during manufacturing, storage and handling of its dosage forms. Inclusion complexation of nifedipine with cyclodextrins (CDs) could be advantageous in protecting the drug against the effect of light. In this study, solid inclusion complexes of nifedipine with beta-cyclodextrin (beta-CD), hydroxypropyl-beta-cyclodextrin (HP-beta-CD) and dimethyl-beta-cyclodextrin (DM-beta-CD) were prepared using the coprecipitation method...
August 28, 2002: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/11753820/inherited-interleukin-12-deficiency-il12b-genotype-and-clinical-phenotype-of-13-patients-from-six-kindreds
#13
Capucine Picard, Claire Fieschi, Frédéric Altare, Suliman Al-Jumaah, Sami Al-Hajjar, Jacqueline Feinberg, Stéphanie Dupuis, Claire Soudais, Ibrahim Zaid Al-Mohsen, Emmanuelle Génin, David Lammas, Dinakantha S Kumararatne, Tony Leclerc, Arash Rafii, Husn Frayha, Belinda Murugasu, Lee Bee Wah, Raja Sinniah, Michael Loubser, Emi Okamoto, Abdulaziz Al-Ghonaium, Haysam Tufenkeji, Laurent Abel, Jean-Laurent Casanova
Interleukin-12 (IL12) is a cytokine that is secreted by activated phagocytes and dendritic cells and that induces interferon-gamma production by natural-killer and T lymphocytes. It consists of two subunits, p35 and p40, which are encoded by IL12A and IL12B, respectively. The first reported patient with a genetic cytokine disorder was a Pakistani child, who was homozygous for a large loss-of-function deletion (g.482+82_856-854del) in IL12B. This IL12-deficient child suffered from infections caused by bacille Calmette-Guérin (BCG) and Salmonella enteritidis...
February 2002: American Journal of Human Genetics
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