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https://www.readbyqxmd.com/read/28101774/newborn-screening-for-remethylation-disorders-and-vitamin-b12-deficiency-evaluation-of-new-strategies-in-cohorts-from-qatar-and-germany
#1
Gwendolyn Gramer, Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbeck, Rehab Ali, Laila Mahmoud, Junmin Fang-Hoffmann, Georg F Hoffmann, Hilal Al Rifai, Jürgen G Okun
BACKGROUND: Newborn screening is a precondition for early diagnosis and succeßsful treatment of remethylation disorders and classical homocystinuria (cystathionine-β-synthase deficiency). Newborn screening for classical homocystinuria using total homocysteine measurement in dried blood spots has been very successfully performed for many years for newborns from Qatar. METHODS: A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine, methionine-phenylalanine-ratio and propionylcarnitine as second-tiers...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28093695/serum-zinc-deficiency-and-its-relation-to-liver-fibrosis-in-chronic-hcv-a-real-life-egyptian-study
#2
Dalia A Omran, Samar Kamal Darweesh, Hanan Fouad, Mohamed Mahmoud, Sameh Saif, Azza Fared, Mohamed Hassany, Lamiaa Mobarak, Mahmoud A El-Tahawy, Ayman Yosry
Zinc is essential for the activation of approximately 300 metallo-enzymes. Serum and hepatic zinc is decreased in chronic liver disease patients, and zinc depletion has been suggested to accelerate liver fibrosis. The study was designed to assess Zinc status in chronic HCV Egyptian patients and its relationship to fibrosis stage diagnosed by FibroScan. This was a cross-sectional study on 297 Egyptian patients with naïve chronic HCV. All patients underwent laboratory tests (including assessment of serum Zinc) and liver stiffness measurement (LSM) by Transient Elastography (FibroScan(®))...
January 16, 2017: Biological Trace Element Research
https://www.readbyqxmd.com/read/28093541/association-of-toll-like-receptor-3-and-toll-like-receptor-9-single-nucleotide-polymorphisms-with-hepatitis-c-virus-infection-and-hepatic-fibrosis-in-egyptian-patients
#3
Rania A Zayed, Dalia Omran, Doha A Mokhtar, Zinab Zakaria, Sameera Ezzat, Mohamed A Soliman, Lamiaa Mobarak, Hossam El-Sweesy, Ghada Emam
Toll-like receptors (TLRs) are recognized as fundamental contributors to the immune system function against infections. Hepatitis C virus (HCV) infection represents a global health problem especially in Egypt having the highest HCV prevalence worldwide where HCV infection is a continuing epidemic. The aim of the present study was to investigate the possible association between genetic variation in TLR-3 and TLR-9 and HCV infection and hepatic fibrosis in chronic HCV-positive Egyptian patients. The present study included 100 naïve chronic HCV-positive patients and 100 age- and sex-matched healthy controls...
January 16, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#4
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28077309/physical-and-biological-characteristics-of-multi-drug-resistance-mdr-an-integral-approach-considering-ph-and-drug-resistance-in-cancer
#5
REVIEW
Ziad Omran, Paula Scaife, Simon Stewart, Cyril Rauch
The role of the Warburg effect in cancer remains to be elucidated with a resurgence in research efforts over the past decade. Why a cancer cell would prefer to use energy inefficient glycolysis, leading to an alteration of pH both inside and outside of the cell, remains to be uncovered. The development of MDR represents a major challenge in the treatment of cancer and it is explained, so far, by the over expression of drug transporters such as the well-known and archetypal P-glycoprotein (Pgp). However, controversies exist regarding the function of Pgp in multi-drug resistance...
January 8, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/28059456/comprehensive-computational-analysis-of-gwas-loci-identifies-ccr2-as-a-candidate-gene-for-celiac-disease-pathogenesis
#6
Babajan Banaganapalli, Omran Rashidi, Omar Saadah, Jun Wang, Imran Ali Khan Muhammed, Jumana Y Al-Aama, Noor Ahmad Shaik, Ramu Elango
Celiac disease (CD) is a gluten intolerance disorder with known genetic contribution. The recent fine mapping andgenome-wide association studies (GWAS) have identified up to 57 non-HLA CD susceptibility SNPs, majority of which are non-coding variants lacking any functional annotation. Therefore, we adopted multidimensional computational approach for uncovering the plausible mechanisms through which these GWAS SNPs are connected to CD pathogenesis. At initial phase, we identified that 25 (43.85%) out of 57 CD-SNPs lies in evolutionarily constrained genetic element regions...
January 6, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28052956/the-international-primary-ciliary-dyskinesia-cohort-ipcd-cohort-methods-and-first-results
#7
Myrofora Goutaki, Elisabeth Maurer, Florian S Halbeisen, Israel Amirav, Angelo Barbato, Laura Behan, Mieke Boon, Carmen Casaulta, Annick Clement, Suzanne Crowley, Eric Haarman, Claire Hogg, Bulent Karadag, Cordula Koerner-Rettberg, Margaret W Leigh, Michael R Loebinger, Henryk Mazurek, Lucy Morgan, Kim G Nielsen, Heymut Omran, Nicolaus Schwerk, Sergio Scigliano, Claudius Werner, Panayiotis Yiallouros, Zorica Zivkovic, Jane S Lucas, Claudia E Kuehni
Data on primary ciliary dyskinesia (PCD) epidemiology is scarce and published studies are characterised by low numbers. In the framework of the European Union project BESTCILIA we aimed to combine all available datasets in a retrospective international PCD cohort (iPCD Cohort).We identified eligible datasets by performing a systematic review of published studies containing clinical information on PCD, and by contacting members of past and current European Respiratory Society Task Forces on PCD. We compared the contents of the datasets, clarified definitions and pooled them in a standardised format...
January 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28051195/risk-factors-for-developing-work-related-musculoskeletal-disorders-during-dairy-farming
#8
Sayed Mohammad Taghavi, Hamidreza Mokarami, Omran Ahmadi, Lorann Stallones, Asghar Abbaspour, Hossein Marioryad
BACKGROUND: Dairy farming work involves frequent use of poor postures. These postures may increase the risk of developing musculoskeletal disorders among dairy workers. OBJECTIVE: To assess postural load during performance of various tasks related to dairy farming. METHODS: This cross-sectional study was conducted on a dairy farm in Iran. In order to assess postural load, tasks related to dairy farming were divided into 3 categories: feeding, milking, and manure disposal...
January 2017: International Journal of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/28041644/mutations-in-pih1d3-cause-x-linked-primary-ciliary-dyskinesia-with-outer-and-inner-dynein-arm-defects
#9
Tamara Paff, Niki T Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G Haarman, Johannes M A Daniels, Erik A Sistermans, Natalija Bogunovic, Gerard W Dougherty, Inga M Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X chromosome and is involved in the preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. Loss-of-function mutations in PIH1D3 lead to absent ODAs and reduced to absent IDAs, causing ciliary and flagellar immotility...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28011413/a-systematic-review-and-meta-analysis-of-seroprevalence-of-varicella-zoster-virus-a-nationwide-population-based-study
#10
REVIEW
Omolbanin Amjadi, Alireza Rafiei, Mohammadreza Haghshenas, Reza Alizadeh Navaei, Reza Valadan, Zahra Hosseini-Khah, Akbar Hedayatizadeh Omran, Mohsen Arabi, Reza Jafari Shakib, Tahoora Mousavi, G Hossein Ashrafi
Varicella zoster virus (VZV) causes chicken pox as a primary infection following which it becomes latent in neurons. It may then reactivate to cause shingles (herpes zoster). Severity of lesions and VZV pathogenicity are depended on the host's immune response and variant in VZV Dr Athina Myrto ChioniIdentification of VZV seroprevalance rate in general population may lead to develop new health strategic managements such as vaccination. Therefore, we aimed to provide a systematic review of the seroprevalence of VZV infection among Iranian population and estimate age- and gender- specific prevalence of VZV...
December 6, 2016: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28005617/lateral-extracavitary-approach-versus-posterior-extensive-circumferential-decompression-in-the-treatment-of-complicated-thoracic-and-lumbar-tuberculous-spondylitis
#11
Khaled Omran, Ahmed S Abdel-Fattah, Ahmed M A Othman, Ahmed O Youssef, Amr Solimen, Mohamed A ElRefai, Ahmed N Saleh, Mohammed Ali
OBJECTIVES AND STUDY DESIGN: The aim of this study was to retrospectively evaluate 45 patients operated upon either by posterior extensive circumferential decompression (PECD) or by the lateral extracavitary (LEC) technique and compare the clinical, radiologic, laboratory, and functional outcomes. SUMMARY OF BACKGROUND: The debate continues on the best decompression-fusion technique for treating complicated spinal tuberculosis. In recent times, the advantages of combined surgery have been successfully achieved using the 1-stage salvage technique, with enough accessibility to all 3 spinal columns...
December 21, 2016: Clinical Spine Surgery
https://www.readbyqxmd.com/read/27975166/green-and-selective-fluorescent-sensor-for-detection-of-sn-iv-and-mo-vi-based-on-boron-and-nitrogen-co-doped-carbon-dots
#12
Reza Tabaraki, Omran Abdi, Sedigheh Yousefipour
A green and simple microwave-assisted method was used to synthesis water-soluble boron and nitrogen-co-doped carbon dots (B-N-CDs). These B-N-CDs were successfully used for the fluorescent determination of Sn(4+) and Mo(6+) ions. This probe had a fast response time at pH = 4 with high sensitivity and selectivity. Linear correlation between F0/F and the concentration was seen in the range of 0.2-18 μM and 0.2-25 μM for Sn(4+) and Mo(6+), respectively. Under optimum condition, the limit of detection (LOD) for Sn(4+) and Mo(6+) were 150 nM and 132 nM, respectively...
December 14, 2016: Journal of Fluorescence
https://www.readbyqxmd.com/read/27973673/prevalence-and-causes-of-attrition-among-surgical-residents-a-systematic-review-and-meta-analysis
#13
Zeyad Khoushhal, Mohamad A Hussain, Elisa Greco, Muhammad Mamdani, Subodh Verma, Ori Rotstein, Andrea C Tricco, Mohammed Al-Omran
Importance: Attrition of residents from general surgery training programs is relatively high; however, there are wide discrepancies in the prevalence and causes of attrition reported among surgical residents in previous studies. Objective: To summarize the estimate of attrition prevalence among general surgery residents. Data Sources: We searched the Medline, EMBASE, Cochrane, PsycINFO, and ERIC databases (January 1, 1946, to October 22, 2015) for studies reporting on the prevalence and causes of attrition in surgical residents, as well as the characteristics and destinations of residents who left general surgery training programs...
December 14, 2016: JAMA Surgery
https://www.readbyqxmd.com/read/27973328/a-comparison-of-two-dimensional-and-real-time-3d-transesophageal-echocardiography-and-angiography-for-assessing-the-left-atrial-appendage-anatomy-for-sizing-a-left-atrial-appendage-occlusion-system-impact-of-volume-loading
#14
Baravan Al-Kassou, Apostolos Tzikas, F Stock, F Neikes, A Völz, H Omran
No abstract text is available yet for this article.
December 15, 2016: EuroIntervention
https://www.readbyqxmd.com/read/27956429/in-vitro-antifungal-susceptibility-profile-of-12-antifungal-drugs-against-55-trichophyton-schoenleinii-isolated-from-tinea-capitis-favosa-in-iran-turkey-and-china
#15
Shuwen Deng, Saham Ansari, Macit Ilkit, Haleh Rafati, Mohammad T Hedayati, Mojtaba Taghizadeh-Armaki, Ayatollah Nasrollahi-Omran, Ali Tolooe, Ping Zhan, Wanqing Liao, Henrich A van der Lee, Paul E Verweij, Seyedmojtaba Seyedmousavi
Trichophyton schoenleinii is an anthropophilic dermatophyte mainly causing tinea favosa of the scalp in certain regions of the world, especially Africa and Asia. We investigated the in vitro susceptibilities of 55 T. schoenleinii collected over the last thirty years from Iran, Turkey and China against 12 antifungals using the CLSI broth-microdilution method. Our results revealed that terbinafine and ketoconazole were the most potent antifungal agents among those tested, independent of the geographical regions isolated...
12, 2016: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/27942362/immunization-with-protein-d-from-non-typeable-haemophilus-influenzae-nthi-induced-cytokine-responses-and-bioactive-antibody-production
#16
Atefeh Davoudi Vijeh Motlagh, Seyed Davar Siadat, Saeid Abedian Kenari, Mehdi Mahdavi, Ava Behrouzi, Hossein Asgarian-Omran
BACKGROUND: Outer membrane protein D (PD) is a highly conserved and stable protein in the outer membrane of both encapsulated (typeable) and non-capsulated (non-typeable) strains of Haemophilus influenzae. As an immunogen, PD is a potential candidate vaccine against non-typeable H. influenzae (NTHi) strains. OBJECTIVES: The aim of this study was to determine the cytokine pattern and the opsonic antibody response in a BALB/c mouse model versus PD from NTHi as a vaccine candidate...
October 2016: Jundishapur Journal of Microbiology
https://www.readbyqxmd.com/read/27912058/impaired-amino-acid-transport-at-the-blood-brain-barrier-is-a-cause-of-autism-spectrum-disorder
#17
Dora C Tărlungeanu, Elena Deliu, Christoph P Dotter, Majdi Kara, Philipp Christoph Janiesch, Mariafrancesca Scalise, Michele Galluccio, Mateja Tesulov, Emanuela Morelli, Fatma Mujgan Sonmez, Kaya Bilguvar, Ryuichi Ohgaki, Yoshikatsu Kanai, Anide Johansen, Seham Esharif, Tawfeg Ben-Omran, Meral Topcu, Avner Schlessinger, Cesare Indiveri, Kent E Duncan, Ahmet Okay Caglayan, Murat Gunel, Joseph G Gleeson, Gaia Novarino
Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial cells of the BBB leads to atypical brain amino acid profile, abnormal mRNA translation, and severe neurological abnormalities...
December 1, 2016: Cell
https://www.readbyqxmd.com/read/27894886/utility-of-urgent-computed-tomography-angiography-in-the-setting-of-intraparenchymal-brain-hemorrhage
#18
Omran Kaskar, Larry B Goldstein
BACKGROUND AND PURPOSE: Patients presenting with an intracerebral hemorrhage (ICH) generally have an initial noncontrast computed tomography (NCCT) of the brain. Computed tomography angiography (CTA) can help identify secondary causes of ICH and detect a "spot sign." We hypothesized that performing an urgent CTA in the setting of a presumed primary ICH has only limited utility and did not alter urgent management. METHODS: This was a retrospective study of consecutive patients presenting with a primary ICH identified from the Duke University Stroke Registry from 2010 to 2013 who had an ICH detected on an initial NCCT...
November 25, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27891280/lung-ultrasound-in-early-diagnosis-of-neonatal-ventilator-associated-pneumonia-before-any-radiographic-or-laboratory-changes
#19
Mohammed Ibrahim, Ahmed Omran, Mostafa Ibrahim, Nouran Bioumy, Sonya El-Sharkawy
Neonatal pneumonia is reported to be the primary cause of neonatal respiratory failure and one of the common causes of neonatal hospitalization and death in developing countries. Chest X-ray was considered the gold standard for diagnosis of neonatal pneumonia. Lung ultrasonography has been described as a valuable noninvasive tool for the diagnosis of many neonatal pulmonary diseases. We report a case of ventilation associated neonatal pneumonia with very early diagnosis using lung ultrasound before any significant radiographic changes in chest X-ray or laboratory findings suggestive of infection...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27864623/simplified-hcc-art-score-for-highly-sensitive-detection-of-small-sized-and-early-stage-hepatocellular-carcinoma-in-the-widely-used-okuda-clip-and-bclc-staging-systems
#20
Abdelfattah M Attallah, Mohamed M Omran, Ahmed A Attallah, Mohamed A Abdelrazek, Khaled Farid, Ibrahim El-Dosoky
BACKGROUND: Small-sized HCC can be effectively cured by surgery with good clinical outcomes. A highly sensitive HCC α-fetoprotein routine test (HCC-ART) for HCC diagnosis as well as a simplied form of the HCC-ART were reported in the British Journal of Cancer. Here, we verified and studied the applicability of the HCC-ART to the detection of early-stage HCC. METHODS: 341 cirrhotic patients and 318 HCC patients were included in this study. For each, the HCC-ART score was calculated, and then the sensitivity, specificity, and results of an ROC curve analysis were compared between the HCC-ART and AFP when these biomarkers were used to detect small-sized HCC...
November 18, 2016: International Journal of Clinical Oncology
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