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https://www.readbyqxmd.com/read/28097321/diagnostic-yield-and-novel-candidate-genes-by-exome-sequencing-in-152-consanguineous-families-with-neurodevelopmental-disorders
#1
Miriam S Reuter, Hasan Tawamie, Rebecca Buchert, Ola Hosny Gebril, Tawfiq Froukh, Christian Thiel, Steffen Uebe, Arif B Ekici, Mandy Krumbiegel, Christiane Zweier, Juliane Hoyer, Karolin Eberlein, Judith Bauer, Ute Scheller, Tim M Strom, Sabine Hoffjan, Ehab R Abdelraouf, Nagwa A Meguid, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Ebtessam Abdallah, Heinrich Sticht, Dagmar Wieczorek, André Reis, Rami Abou Jamra
Importance: Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives: To promote the identification of disease genes through confirmation of previously described genes and presentation of novel candidates and provide an overview of the diagnostic yield of exome sequencing in consanguineous families. Design, Setting, and Participants: Autozygosity mapping in families and exome sequencing of index patients were performed in 152 consanguineous families (the parents descended from a same ancestor) with at least 1 offspring with intellectual disability (ID)...
January 11, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28094997/combined-inkjet-printing-and-infra-red-sintering-of-silver-nanoparticles-using-a-swathe-by-swathe-and-layer-by-layer-approach-for-3-dimensional-structures
#2
Jayasheelan Vaithilingam, Marco Simonelli, Ehab Saleh, Nicola Senin, Ricky D Wildman, Richard J M Hague, Richard K Leach, Christopher J Tuck
Despite the advancement of additive manufacturing/3-dimensional (3D) printing, single-step fabrication of multifunctional parts using AM is limited. With the view of enabling multifunctional AM (MFAM), in this study, sintering of metal nanoparticles was performed to obtain conductivity for continuous line inkjet printing of electronics. This was achieved using a bespoke three dimensional (3D) inkjet-printing machine, JETx®, capable of printing a range of materials and utilizing different post processing procedures to print multi-layered 3D structures in a single manufacturing step...
January 17, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28079844/serum-interleukin-6-in-systemic-sclerosis-and-its-correlation-with-disease-parameters-and-cardiopulmonary-involvement
#3
Rasha A Abdel-Magied, Shereen R Kamel, Azza Farag Said, Hazem M Ali, Ehab A Abdel Gawad, Mahmoud M Moussa
OBJECTIVE: To assess serum interleukin-6 (IL-6)level in patients with systemic sclerosis (SSc) and its correlations with European Scleroderma Study Group activity score (EUSTAR), Scleroderma Assessment Questionnaire (SAQ), disability index and cardiopulmonary involvement. METHODS: Twenty SSc patients and 10 matched healthy controls were included. Serum IL-6 was measured in patients and controls. Disease activity, status,and disability were assessed.Cardiopulmonary involvement was evaluated by pulmonary function tests (PFTs), six minute walk test, echocardiography, and high resolution computed tomography (HRCT) of chest...
December 23, 2016: Sarcoidosis, Vasculitis, and Diffuse Lung Diseases: Official Journal of WASOG
https://www.readbyqxmd.com/read/28074742/development-and-validation-of-an-rp-hplc-method-for-the-determination-of-vinpocetine-and-folic-acid-in-the-presence-of-a-vinpocetine-alkaline-degradation-product-in-bulk-and-in-capsule-form
#4
Ehab F Elkady, Marwa H Tammam, Ayman A Mohamed
An alkaline-forced degradation hydrolytic product of vinpocetine was prepared and characterized by <sup>1</sup>H-NMR, FTIR spectroscopy, and MS. Subsequently, a simple, selective, and validated reversed-phase HPLC method was developed for the simultaneous estimation of vinpocetine and folic acid in the presence of a vinpocetine alkaline degradation product. Chromatographic separation was achieved using an isocratic mobile phase consisting of acetonitrile-0.02 M KH<sub>2</sub>PO<sub>4</sub> [containing 0...
January 11, 2017: Journal of AOAC International
https://www.readbyqxmd.com/read/28042635/dentists-awareness-and-action-towards-domestic-violence-patients-a-cross-sectional-study-among-dentists-in-western-saudi-arabia
#5
Wafa S AlAlyani, Ehab N Alshouibi
To identify the potential factors that would predict a dentist's awareness of domestic violence (DV), as well as the factors that influence the probability of dentists to take the required action. Also, to list the common barriers that dentists face when managing DV victims. Methods: In this cross-sectional study, a self-administered, structured questionnaire was sent randomly to dentists practicing in Jeddah, Saudi Arabia. The online survey link was emailed with a cover message that illustrated the study context...
January 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28038907/solid-waste-composition-analysis-and-recycling-evaluation-zaatari-syrian-refugees-camp-jordan
#6
Motasem N Saidan, Ammar Abu Drais, Ehab Al-Manaseer
There is a need for Municipal Solid Waste (MSW) stream characterization and composition analysis to allow for an accurate estimation of its recycling potential and for effective management of the entire system. Recycling provides employment and a livelihood for vulnerable social groups such as refugees. The aim of this paper is to determine the composition of MSW in Zaatari Syrian Refugee Camp, where approximately 430,000 Syrian refugees have passed through the camp. The representative waste samples and analysis included household waste and commercial waste produced by the refugees in the selected districts in Zaatari...
December 27, 2016: Waste Management
https://www.readbyqxmd.com/read/28032679/acr-appropriateness-criteria-%C3%A2-nasal-cavity-and-paranasal-sinus-cancers
#7
Farzan Siddiqui, Richard V Smith, Sue S Yom, Jonathan J Beitler, Paul M Busse, Jay S Cooper, Ehab Y Hanna, Christopher U Jones, Shlomo A Koyfman, Harry Quon, John A Ridge, Nabil F Saba, Francis Worden, Min Yao, Joseph K Salama
The American College of Radiology (ACR) Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer-reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios...
December 29, 2016: Head & Neck
https://www.readbyqxmd.com/read/28026176/the-synthesis-of-certain-phomentrioloxin-a-analogues-and-their-evaluation-as-herbicidal-agents
#8
Ehab S Taher, Prue Guest, Amanda Benton, Xinghua Ma, Martin G Banwell, Anthony C Willis, Tobias Seiser, Trevor W Newton, Johannes Hutzler
A series of 28 analogues of the phytotoxic geranylcyclohexentriol (-)-phomentrioloxin A (1) has been synthesized through cross-couplings of various enantiomerically pure haloconduritols or certain deoxygenated derivatives with either terminal alkynes or borylated alkenes. Some of these analogues display modest herbicidal activities, and physiological profiling studies suggest that analogue 4 inhibits photosystem II in isolated thylakoids in vitro.
December 27, 2016: Journal of Organic Chemistry
https://www.readbyqxmd.com/read/28019086/the-risk-of-secondary-cancer-in-nasopharyngeal-carcinoma-paediatric-patients-due-to-intensity-modulated-radiotherapy-and-mega-voltage-cone-beam-computed-tomography
#9
Reham S Sherif, Ehab M Attalla, Wael M Elshemey, Noha G Madian
INTRODUCTION: There is a growing interest in the study of radiation-induced secondary cancer. The aim of this work is (i) to estimate the peripheral doses attributable to intensity modulated radiotherapy (IMRT) and mega-voltage cone beam computed tomography (MV-CBCT) for some organs at risk (OARs) which surround the target being treated (Nasopharynx) in paediatric patients. (ii) To estimate the risk of radiation-induced secondary cancers attributable to patient setup verification imaging dose using MV-CBCT for Nasopharyngeal Carcinoma (NPC) in paediatric patients and comparing it with that attributable to the therapeutic dose using IMRT...
December 25, 2016: Journal of Medical Imaging and Radiation Oncology
https://www.readbyqxmd.com/read/28009637/novel-needle-guide-reduces-time-to-perform-ultrasound-guided-femoral-nerve-catheter-placement-a-randomised-controlled-trial
#10
Alparslan Turan, Rovnat Babazade, Hesham Elsharkawy, Wael Ali Sakr Esa, Kamal Maheshwari, Ehab Farag, Nicole M Zimmerman, Loran Mounir Soliman, Daniel I Sessler
BACKGROUND: Ultrasound-guided nerve blocks have become the standard when performing regional nerve blocks in anaesthesia. Infiniti Plus (CIVCO Medical Solutions, Kalona, Iowa, USA) is a needle guide that has been recently developed to help clinicians in performing ultrasound-guided nerve blocks. OBJECTIVES: We tested the hypothesis that femoral nerve catheter placement carried out with the Infiniti Plus needle guide will be quicker to perform than without the Infiniti Plus...
December 22, 2016: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28009529/high-prevalence-of-middle-east-respiratory-coronavirus-in-young-dromedary-camels-in-jordan
#11
Neeltje van Doremalen, Zaidoun S K Hijazeen, Peter Holloway, Bilal Al Omari, Chester McDowell, Danielle Adney, Hani A Talafha, Javier Guitian, John Steel, Nadim Amarin, Markos Tibbo, Ehab Abu-Basha, Ahmad M Al-Majali, Vincent J Munster, Juergen A Richt
Prevalence of Middle East respiratory syndrome coronavirus (MERS-CoV) was determined in 45 dromedary camels from two geographically separated herds in Jordan. Virus shedding was only detected in swabs obtained from the respiratory tract and primarily observed in camels younger than 3 years. MERS-CoV seroprevalence increased with age of camels. Bovine and sheep sera were seronegative. Phylogenetic analysis of partial S2 clustered the Jordanian MERS-CoV strains with contemporary MERS-CoV strains associated with nosocomial outbreaks...
December 23, 2016: Vector Borne and Zoonotic Diseases
https://www.readbyqxmd.com/read/28009428/high-dose-chemotherapy-and-peripheral-hematopoietic-stem-cell-transplantation-in-relapsed-refractory-hodgkin-s-lymphoma
#12
Mouhammed Kelta, Jamal Zekri, Ehab Abdelghany, Jalil Ur Rehman, Zahid Amin Khan, Rawan Al-Saadi, Reyad Dada
PURPOSE: High-dose chemotherapy (HDCT) and autologous stem cell transplantation (ASCT) is used to treat patients with relapsed Hodgkin's lymphoma. In this retrospective study we report our experience with patients who underwent HDCT and ASCT. METHODS: All patients ≥15 years old with relapsed/refractory Hodgkin's lymphoma who underwent HDCT and ASCT between June 2001 and December 2013 were included. RESULTS: Fifty-four patients were identified...
December 19, 2016: Tumori
https://www.readbyqxmd.com/read/28003786/accidental-macular-injury-with-class-ivb-laser-outside-the-medical-settings
#13
Ehab Abdelkader
In the medical settings, safety precautions are used to mitigate inadvertent ocular damage due to laser beams. High power lasers are illegal in many countries; however, they are sometimes used on social occasions. Use by an untrained member of the public can result in severe accidental ocular damage. We report a case of macular damage and central visual loss due to the illegal use of a class IVb 2000 mW power laser in a 20-year-old male. To our knowledge, this is the first case of macular injury due to this particular type of laser...
October 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28003779/pneumatic-displacement-of-submacular-haemorrhage
#14
Ehab Abdelkader, Kay P Yip, Kurt Spiteri Cornish
PURPOSE: To evaluate the outcomes of pneumatic displacement of submacular hemorrhage secondary to choroidal neovascular membrane (CNV) (n = 9) and retinal arterial macroaneurysm (RAM) (n = 3). METHODS: This is a retrospective case series study of 12 eyes from 12 patients in Aberdeen Royal Infirmary, Aberdeen, UK. The mean duration of visual loss was 10.8 ± 4.11 days. All cases received intravitreal injection of expansile gas within 24 h of presentation (C3F8 in 11 cases and SF6 in one case) and postured face down for five days...
October 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28002169/fluoroscopic-guided-lumbar-spinal-drain-insertion-for-thoracic-aortic-aneurysm-surgery
#15
Hamdy Awad, Mohamed Ehab Ramadan, Esmerina Tili, Kathryn Hackett, Eric C Bourekas
We retrospectively reviewed the medical records of 11 patients who were referred by anesthesiologists to an interventional neuroradiologist for fluoroscopy-guided lumbar spinal drain insertion for thoracic aortic aneurysm repair between January 2010 and June 2015. Successful drain insertion was achieved in all patients. Three (27.3%) patients developed drain-related complications. Fluoroscopy-guided spinal drain insertion is an alternative to the conventional, nonimage-guided, blind technique used by anesthesiologists when they expect to encounter difficulty with insertion or in cases of failed insertion...
December 19, 2016: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/27986375/biological-evaluation-of-a-new-pulp-capping-material-developed-from-portland-cement
#16
Ahmed M Negm, Ehab E Hassanien, Ashraf M Abu-Seida, Mohamed M Nagy
This study evaluates the biological properties of a new pulp capping material developed from Portland cement. This study was conducted on 48 teeth in 4 dogs (12 teeth/dog). The dogs were classified into two equal groups (n=24 teeth) according to the evaluation period including: group A (3 weeks) and group B (3 months). Each group was further subdivided into three equal subgroups (n=8 teeth) according to the capping material including: subgroup 1: mineral trioxide aggregate (MTA), subgroup2: Portland cement+10% calcium hydroxide+20% bismuth oxide (Port Cal) and subgroup 3: Portland cement+bismuth oxide...
December 13, 2016: Experimental and Toxicologic Pathology: Official Journal of the Gesellschaft Für Toxikologische Pathologie
https://www.readbyqxmd.com/read/27984753/validated-spectrofluorimetric-methods-for-the-determination-of-apixaban-and-tirofiban-hydrochloride-in-pharmaceutical-formulations
#17
Ramzia I El-Bagary, Ehab F Elkady, Naira A Farid, Nadia F Youssef
Apixaban and Tirofiban Hydrochloride are low molecular weight anticoagulants. The two drugs exhibit native fluorescence that allow the development of simple and valid spectrofluorimetric methods for the determination of Apixaban at λ ex/λ em=284/450nm and tirofiban HCl at λ ex/λ em=227/300nm in aqueous media. Different experimental parameters affecting fluorescence intensities were carefully studied and optimized. The fluorescence intensity-concentration plots were linear over the ranges of 0.2-6μgml(-1) for apixaban and 0...
December 3, 2016: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/27977867/simultaneous-uplc-ms-ms-determination-of-antiepileptic-agents-for-dose-adjustment
#18
Faten Farouk, Ehab F ElKady, Hassan M E Azzazy
Therapeutic drug monitoring (TDM) of anti-epileptic drugs (AED) is a routine application. Carbamazepine (CRB) is monitored as the parent drug while oxcarbazepine (OXC) and eslicarbazepine acetate (ESL) are monitored as their active metabolite (eslicarbazepine; MHD). We have developed a UPLC-MS/MS method for determining CRB, OXC, ESL and MHD in plasma or serum with a simplified extraction protocol. The developed method detects sildenafil (SLD) which clinically interferes with AED and is likely to be co-administered in epileptic patients suffering from sexual insufficiency (60%)...
December 15, 2016: Biomedical Chromatography: BMC
https://www.readbyqxmd.com/read/27976642/solitary-rectal-ulcer-syndrome-a-single-center-case-series
#19
Abdulaziz I AlGhulayqah, Ehab H Abu-Farhaneh, Fahad I AlSohaibani, Majid A Almadi, Hadeel M AlMana
BACKGROUND/AIM: Solitary rectal ulcer syndrome (SRUS) is a benign, chronic defecation disorder with varied presentations. The aim of this study is to summarize the clinical features, endoscopic findings, histological appearance, and treatment strategies associated with SRUS. PATIENTS AND METHODS: This is a retrospective study of all patients diagnosed with SRUS at the King Faisal Specialist Hospital and Research Centre in Riyadh from January 2003 to December 2013...
November 2016: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/27959939/two-novel-space-time-coding-techniques-designed-for-uwb-miso-systems-based-on-wavelet-transform
#20
Amira Ibrahim Zaki, Ehab F Badran, Said E El-Khamy
In this paper two novel space-time coding multi-input single-output (STC MISO) schemes, designed especially for Ultra-Wideband (UWB) systems, are introduced. The proposed schemes are referred to as wavelet space-time coding (WSTC) schemes. The WSTC schemes are based on two types of multiplexing, spatial and wavelet domain multiplexing. In WSTC schemes, four symbols are transmitted on the same UWB transmission pulse with the same bandwidth, symbol duration, and number of transmitting antennas of the conventional STC MISO scheme...
2016: PloS One
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