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https://www.readbyqxmd.com/read/27912058/impaired-amino-acid-transport-at-the-blood-brain-barrier-is-a-cause-of-autism-spectrum-disorder
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/27863452/mutation-in-non-coding-rna-rnu12-causes-early-onset-cerebellar-ataxia
#5
Mahmoud Fawzi Elsaid, Nader Chalhoub, Tawfeg Ben-Omran, Pankaj Kumar, Hussein Kamel, Khalid Ibrahim, Yasmin Mohamoud, Eman Al-Dous, Iman Al-Azwani, Joel A Malek, Karsten Suhre, M Elizabeth Ross, Alice Abdel Aleem
OBJECTIVE: Exome sequences account for only 2% of the genome and may overlook mutations causing disease. To obtain a more complete view, whole genome sequencing (WGS) was analyzed in a large consanguineous family in which members displayed autosomal recessively inherited cerebellar ataxia manifesting before two years of age. METHODS: WGS from blood derived gDNA was used for homozygosity mapping and a rare variant search. RNA from isolated blood leukocytes was used for quantitative PCR, RNA sequencing and comparison of the transcriptomes of affected and unaffected family members...
November 18, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27862881/proximal-balloon-occlusion-versus-distal-filter-protection-in-carotid-artery-stenting-a-meta-analysis-and-review-of-the-literature
#6
Jad Omran, Ehtisham Mahmud, Christopher J White, Herbert D Aronow, Douglas E Drachman, William Gray, Obai Abdullah, Mazen Abu-Fadel, Belal Firwana, Gergory Mishkel, Ashraf S Al-Dadah
INTRODUCTION: Carotid artery stenting (CAS) is typically performed using embolic protection devices (EPDs) as a means to reduce the risk of procedure-related stroke. In this study, we compared procedural morbidity and mortality associated with distal (D-EPD) vs. proximal (P-EPD) protection. METHODS: MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials were queried from January 1998 through May 2015. Only studies comparing (D-EPD) and (P-EPD) were included...
November 12, 2016: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/27836958/european-respiratory-society-guidelines-for-the-diagnosis-of-primary-ciliary-dyskinesia
#7
Jane S Lucas, Angelo Barbato, Samuel A Collins, Myrofora Goutaki, Laura Behan, Daan Caudri, Sharon Dell, Ernst Eber, Estelle Escudier, Robert A Hirst, Claire Hogg, Mark Jorissen, Philipp Latzin, Marie Legendre, Margaret W Leigh, Fabio Midulla, Kim G Nielsen, Heymut Omran, Jean-Francois Papon, Petr Pohunek, Beatrice Redfern, David Rigau, Bernhard Rindlisbacher, Francesca Santamaria, Amelia Shoemark, Deborah Snijders, Thomy Tonia, Andrea Titieni, Woolf T Walker, Claudius Werner, Andrew Bush, Claudia E Kuehni
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no "gold standard" reference test. Hence, a Task Force supported by the European Respiratory Society has developed this guideline to provide evidence-based recommendations on diagnostic testing, especially in light of new developments in such tests, and the need for robust diagnoses of patients who might enter randomised controlled trials of treatments...
November 11, 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27834754/impact-of-clinical-trial-results-on-the-temporal-trends-of-carotid-endarterectomy-and-stenting-from-2002-to-2014
#8
Mohamad A Hussain, Muhammad Mamdani, Jack V Tu, Gustavo Saposnik, Zeyad Khoushhal, Badr Aljabri, Subdoh Verma, Mohammed Al-Omran
BACKGROUND AND PURPOSE: Randomized trials provide conflicting data for the efficacy of carotid-artery stenting compared with endarterectomy. The purpose of this study was to examine the impact of conflicting clinical trial publications on the utilization rates of carotid revascularization procedures. METHODS: We conducted a population-level time-series analysis of all individuals who underwent carotid endarterectomy and stenting in Ontario, Canada (2002-2014). The primary analysis examined temporal changes in the rates of carotid revascularization procedures after publications of major randomized trials...
December 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27829967/does-virtual-reality-based-kinect-dance-training-paradigm-improve-autonomic-nervous-system-modulation-in-individuals-with-chronic-stroke
#9
Luciana Maria Malosá Sampaio, Savitha Subramaniam, Ross Arena, Tanvi Bhatt
BACKGROUND: Physical inactivity and low resting heart rate variability (HRV) are associated with an increased cardiovascular deconditioning, risk of secondary stroke and mortality. Aerobic dance is a multidimensional physical activity and recent research supports its application as a valid alternative cardiovascular training. Furthermore, technological advances have facilitated the emergence of new approaches for exercise training holding promise, especially those methods that integrate rehabilitation with virtual gaming...
October 2016: Journal of Vascular and Interventional Neurology
https://www.readbyqxmd.com/read/27822285/the-relationship-between-interpersonal-cognitive-distortions-and-attribution-styles-among-divorce-applicant-couples-and-its-impact-on-sexual-satisfaction
#10
Morteza Mahdoodizaman, Samira Razaghi, Lili Amirsardari, Omran Hobbi, Davod Ghaderi
BACKGROUND: The current study aimed to investigate the relationship between cognitive distortions and attribution styles among divorce applicant couples and its impact on sexual satisfaction. MATERIALS AND METHODS: It was a cross-sectional study and its statistical samples were 55 divorce applicant couples (110 individuals) referred to Urmia courts, Urmia, Iran, from 2012 to 2013. The required data were gathered by interpersonal cognitive distortions, Larson sexual satisfaction and attribution style questionnaire...
September 2016: Iranian Journal of Psychiatry and Behavioral Sciences
https://www.readbyqxmd.com/read/27795821/predictors-of-hypoglycemia-in-insulin-treated-patients-with-type-2-diabetes-mellitus-in-basrah
#11
Dhuha Tarik Nassar, Omran S Habib, Abbas Ali Mansour
AIM: To measure the incidence and determinants (predictors) of hypoglycemia among patients with type 2 diabetes mellitus (T2DM) who were on insulin treatment for at least one year. METHODS: The present study is an out-patients based inquiry about the risk and predictors of hypoglycemia among patients with T2DM seeking care at the Al-Faiha Specialized Diabetes, Endocrine, and Metabolism Center, in Basrah over a period of 7 mo (from 15(th) of April, 2013 to 15(th) of October, 2013)...
October 15, 2016: World Journal of Diabetes
https://www.readbyqxmd.com/read/27781089/collecting-clinical-data-in-primary-ciliary-dyskinesia-challenges-and-opportunities
#12
Israel Amirav, Mary Roduta Roberts, Huda Mussaffi, Avigdor Mandelberg, Yehudah Roth, Revital Abitbul, Anthony Luder, Hannah Blau, Soliman Alkrinawi, Micha Aviram, Marta Ben-Ami, Moshe Rotschild, Lea Bentur, David Shoseyov, Malena Cohen-Cymberknoh, Eitan Kerem, Avraham Avital, Chaim Springer, Avigdor Hevroni, Husein Dabbah, Arnon Elizur, Elie Picard, Shmuel Goldberg, Joseph Rivlin, Galit Livnat, Moran Lavie, Nael Alias, Ruth Soferman, Heike Olbrich, Johanna Raidt, Julia Wallmeier, Claudius Werner, Niki T Loges, Heymut Omran
Rationale: Primary ciliary dyskinesia (PCD) is under diagnosed and underestimated. Most clinical research has used some form of questionnaires to capture data but none has been critically evaluated particularly with respect to its end-user feasibility and utility. Objective: To critically appraise a clinical data collection questionnaire for PCD used in a large national PCD consortium in order to apply conclusions in future PCD research. Methods: We describe the development, validation and revision process of a clinical questionnaire for PCD and its evaluation during a national clinical PCD study with respect to data collection and analysis, initial completion rates and user feedback...
2016: F1000Research
https://www.readbyqxmd.com/read/27778219/guidelines-for-the-diagnosis-and-management-of-cystathionine-beta-synthase-deficiency
#13
Andrew A M Morris, Viktor Kožich, Saikat Santra, Generoso Andria, Tawfeg I M Ben-Omran, Anupam B Chakrapani, Ellen Crushell, Mick J Henderson, Michel Hochuli, Martina Huemer, Miriam C H Janssen, Francois Maillot, Philip D Mayne, Jenny McNulty, Tara M Morrison, Helene Ogier, Siobhan O'Sullivan, Markéta Pavlíková, Isabel Tavares de Almeida, Allyson Terry, Sufin Yap, Henk J Blom, Kimberly A Chapman
Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine...
October 24, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27777502/analysis-of-cyp1b1-in-pediatric-and-adult-glaucoma-and-other-ocular-phenotypes
#14
Linda M Reis, Rebecca C Tyler, Eric Weh, Kathryn E Hendee, Ariana Kariminejad, Omar Abdul-Rahman, Tawfeg Ben-Omran, Melanie A Manning, Catherine A McCarty, Terrie E Kitchner, Deborah Costakos, Elena V Semina
PURPOSE: The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma (POAG). METHODS: We examined CYP1B1 in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27773428/biallelic-mutations-in-tmtc3-encoding-a-transmembrane-and-tpr-containing-protein-lead-to-cobblestone-lissencephaly
#15
Julie Jerber, Maha S Zaki, Jumana Y Al-Aama, Rasim Ozgur Rosti, Tawfeg Ben-Omran, Esra Dikoglu, Jennifer L Silhavy, Caner Caglar, Damir Musaev, Beate Albrecht, Kevin P Campbell, Tobias Willer, Mariam Almuriekhi, Ahmet Okay Çağlayan, Jiri Vajsar, Kaya Bilgüvar, Gonul Ogur, Rami Abou Jamra, Murat Günel, Joseph G Gleeson
Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. COB occurs in a wide range of genetic disorders known as dystroglycanopathies, which are congenital muscular dystrophies associated with brain and eye anomalies and range from Walker-Warburg syndrome to Fukuyama congenital muscular dystrophy. Each of these conditions has been associated with alpha-dystroglycan defects or with mutations in genes encoding basement membrane components, which are known to interact with alpha-dystroglycan...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27769108/fibro-markers-for-prediction-of-hepatocellular-carcinoma-in-egyptian-patients-with-chronic-liver-disease
#16
Lamiaa Mobarak, Dalia Omran, Mohammed M Nabeel, Zeinab Zakaria
BACKGROUND AND STUDY AIM: It is well known that hepatocellular carcinoma (HCC) develops as a consequence of hepatic fibrosis progression. In this study, we aimed to evaluate the inflammatory and fibrosis markers as predictors for HCC development among patients with hepatitis C virus (HCV) related chronic liver disease to help in early diagnosis and management of HCC. METHODS: A total of 280 patients with chronic liver disease were included in this retrospective study, out of them 140 had liver cirrhosis with HCC and 140 had cirrhosis without HCC...
October 21, 2016: Journal of Medical Virology
https://www.readbyqxmd.com/read/27763276/efficacy-of-a-guideline-recommended-risk-reduction-program-to-improve-cardiovascular-and-limb-outcomes-in-patients-with-peripheral-arterial-disease
#17
M A Hussain, M Al-Omran, M Mamdani
No abstract text is available yet for this article.
August 2016: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/27761559/lung-cancer-in-basrah-iraq-during-2005-2012-incidence-and-time-trend
#18
Omran S Habib, Jasim N Al-Asadi, Osama G Hussein
OBJECTIVES: To study the incidence rate of lung cancer and its time trend in Basrah during 2005-2012. METHODS: This was a cancer registry-based retrospective study including all Basrah inhabitant patients diagnosed with primary lung cancer during the period from January 2005 to December 2012. The crude incidence rate was calculated in addition to the age standardized incidence rate (ASIR)/100,000 using the world standard population. Results: Out of 746 registered cases of lung cancer in Basrah, 75...
November 2016: Saudi Medical Journal
https://www.readbyqxmd.com/read/27757368/antifungal-activity-of-dual-combination-of-hydroxychavicol-with-commercialized-agents-against-oral-candida-species
#19
Wan Harun Himratul-Aznita, Che Omran Nor-Zulaila, Khairuddin Nurul-Fatihah
Candida spp. is the most prevalent species causing systemic fungal infections. The effect of antifungal agents were screened in vitro and their synergism effect were determined between hydroxychavicol (HC) in association with commercialized antifungal drugs-amphotericin B (AMB), and 5-fluorocytosine (5-FC) alone and in combination against five different oral Candida spp. in their planktonic states at different ratio (1:1 v/v; 1:2 v/v and 2:1 v/v). In vitro susceptibilities of Candida spp. to HC and commercialized antifungal agents were investigated by broth microdilution method as described by Clinical and Laboratory Standards Institute M38-A2...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27757185/effect-of-aqueous-and-ethanolic-extracts-of-lippia-citriodora-on-candida-albicans
#20
Maryam Ghasempour, Saeid Mahdavi Omran, Ali Akbar Moghadamnia, Faranak Shafiee
INTRODUCTION: Because of resistance and side effects to common antifungal drugs activity, the research on herbal substances with antifungal activity is frequent. Lemon verbena (Lippia citriodora) is a member of Verbenaceae family. The aim of this study was to determine the anti-candida activities of the ethanolic and aqueous extracts of the lemon verbena leaves and compare them with nystatin and fluconazole. METHODS: In this 2015 study, 15 clinical isolates and standard strain of candida albicans PTCC 5027 were used, and the inhibitory effects of the ethanolic and aqueous extracts, Nystatin and Fluconazole, were evaluated using disk and well diffusion methods...
August 2016: Electronic Physician
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