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https://www.readbyqxmd.com/read/28749478/molecular-autopsy-in-maternal-fetal-medicine
#1
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Zain Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed Kurdi, Mais Hashem, Tarfa Alshidi, Eman Al-Obeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El-Akouri, Mariam Al Mulla, Tawfeg Ben-Omran, Matthias Pergande, Sebahattin Cirak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S Alkuraya
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.ResultsPathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%)...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#2
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
July 25, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28727678/progress-toward-measles-elimination-bangladesh-2000-2016
#3
Sudhir Khanal, Rajendra Bohara, Stephen Chacko, Mohammad Sharifuzzaman, Mohammad Shamsuzzaman, James L Goodson, Alya Dabbagh, Katrina Kretsinger, Deepak Dhongde, Jayantha Liyanage, Sunil Bahl, Arun Thapa
In 2013, at the 66th session of the Regional Committee of the World Health Organization (WHO) South-East Asia Region (SEAR), a regional goal was established to eliminate measles and control rubella and congenital rubella syndrome* by 2020 (1). WHO-recommended measles elimination strategies in SEAR countries include 1) achieving and maintaining ≥95% coverage with 2 doses of measles-containing vaccine (MCV) in every district, delivered through the routine immunization program or through supplementary immunization activities (SIAs)(†); 2) developing and sustaining a sensitive and timely measles case-based surveillance system that meets targets for recommended performance indicators; and 3) developing and maintaining an accredited measles laboratory network (2)...
July 21, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28685343/distribution-of-heavy-metals-around-the-barakah-nuclear-power-plant-in-the-united-arab-emirates
#4
Mouza Rashid Al Rashdi, Sulaiman Alaabed, Mohamed El Tokhi, Fares M Howari, Walid El Mowafi, Alya A Arabi
Inductively coupled plasma emission spectroscopy was used to measure the concentrations of heavy metals in 58 samples collected from the Barakah nuclear power plant (BNPP) area, UAE. The grain size distribution was symmetric, but the samples ranged from fine to coarse sand. The inverse relationship between grain size and heavy metal contaminations was validated. The pre-operational average heavy metal contaminations around the BNPP were 0.03, 0.40, 1.2, 2.05, 1.66, 1.6, 5.9, 7.3, 7, 8.8, 60, and 2521 ppm for Cd, Mo, Co, Cu, Pb, As, Zn, Ni, V, Cr, Mn, and Fe, respectively...
July 7, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28680838/utility-of-electronic-medical-record-based-fibrosis-scores-in-predicting-advanced-cirrhosis-in-patients-with-hepatitic-c-virus-infection
#5
Mohammad Qasim Khan, Vijay Anand, Norbert Hessefort, Ammar Hassan, Alya Ahsan, Amnon Sonnenberg, Claus J Fimmel
OBJECTIVE: To determine whether advanced cirrhosis - defined by the detection of nodular liver contours or portal venous collaterals on imaging studies - could be predicted by fibrosis algorithms, calculated using laboratory and demographic features extracted from patients' electronic medical records. To this end, we compared seven EMR-based fibrosis scores with liver imaging studies in a cohort of HCV patients. METHODS: A search of our health system's patient data warehouse identified 867 patients with chronic HCV infection...
March 2017: Journal of Translational Internal Medicine
https://www.readbyqxmd.com/read/28634057/evaluation-of-the-biotechnological-potential-of-a-novel-purified-protease-bs1-from-bacillus-safensis-s406-on-the-chitin-extraction-and-detergent-formulation
#6
Samiha Mhamdi, Intidhar Bkhairia, Rim Nasri, Tahar Mechichi, Moncef Nasri, Alya Sellami Kamoun
An extracellular alkaline stable protease BS1 from a new bacteria strain, Bacillus safensis S406, isolated from the Sfax solar saltern, was purified and characterized. The enzyme was purified to homogeneity by ammonium sulfate precipitation, Sephadex G-75 gel filtration, Mono-Q anion-exchange chromatography and ultrafiltration, with a 12.70-fold increase in specific activity and 20.29% recovery. The enzyme has a molecular weight of 29kDa and appeared as a single band on native-PAGE. The optimum pH and temperature values of its proteolytic activity were pH 11...
June 17, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28612024/the-potential-of-a-brown-microalga-cultivated-in-high-salt-medium-for-the-production-of-high-value-compounds
#7
Saoussan Boukhris, Khaled Athmouni, Ibtissem Hamza-Mnif, Rayda Siala-Elleuch, Habib Ayadi, Moncef Nasri, Alya Sellami-Kamoun
Amphora sp. was isolated from the Sfax Solar Saltern and cultivated under hypersaline conditions. It contains moderate rates of proteins, lipids, sugars, and minerals and a prominent content of bioactive compounds: polyphenols, chlorophyll a, carotenoids, and fatty acids. The analysis of fatty acids with GC/MS showed that the C16 series accounted for about 75% of Amphora sp. lipids. Saturated fatty acids whose palmitic acid was the most important (27.41%) represented 41.31%. Amphora sp. was found to be rich in monounsaturated fatty acids with dominance of palmitoleic acid...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28600779/the-landscape-of-genetic-diseases-in-saudi-arabia-based-on-the-first-1000-diagnostic-panels-and-exomes
#8
Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair Alhassnan, Maha Alotaibi, Husam Kayyali, Mohammed Al-Owain, Ayaz Shah, Zuhair Rahbeeni, Mohammad A Al-Muhaizea, Hamad I Alzaidan, Edward Cupler, Saeed Bohlega, Eissa Faqeih, Maha Faden, Banan Alyounes, Dyala Jaroudi, Ewa Goljan, Hadeel Elbardisy, Asma Akilan, Renad Albar, Hesham Aldhalaan, Shamshad Gulab, Aziza Chedrawi, Bandar K Al Saud, Wesam Kurdi, Nawal Makhseed, Tahani Alqasim, Heba Y El Khashab, Hamoud Al-Mousa, Amal Alhashem, Imaduddin Kanaan, Talal Algoufi, Khalid Alsaleem, Talal A Basha, Fathiya Al-Murshedi, Sameena Khan, Adila Al-Kindy, Maha Alnemer, Sami Al-Hajjar, Suad Alyamani, Hasan Aldhekri, Ali Al-Mehaidib, Rand Arnaout, Omar Dabbagh, Mohammad Shagrani, Dieter Broering, Maha Tulbah, Amal Alqassmi, Maisoon Almugbel, Mohammed AlQuaiz, Abdulaziz Alsaman, Khalid Al-Thihli, Raashda A Sulaiman, Wajeeh Al-Dekhail, Abeer Alsaegh, Fahad A Bashiri, Alya Qari, Suzan Alhomadi, Hisham Alkuraya, Mohammed Alsebayel, Muddathir H Hamad, Laszlo Szonyi, Faisal Abaalkhail, Sulaiman M Al-Mayouf, Hamad Almojalli, Khalid S Alqadi, Hussien Elsiesy, Taghreed M Shuaib, Mohammed Zain Seidahmed, Ibraheem Abosoudah, Hana Akleh, Abdulaziz AlGhonaium, Turki M Alkharfy, Fuad Al Mutairi, Wafa Eyaid, Abdullah Alshanbary, Farrukh R Sheikh, Fahad I Alsohaibani, Abdullah Alsonbul, Saeed Al Tala, Soher Balkhy, Randa Bassiouni, Ahmed S Alenizi, Maged H Hussein, Saeed Hassan, Mohamed Khalil, Brahim Tabarki, Saad Alshahwan, Amira Oshi, Yasser Sabr, Saad Alsaadoun, Mustafa A Salih, Sarar Mohamed, Habiba Sultana, Abdullah Tamim, Moayad El-Haj, Saif Alshahrani, Dalal K Bubshait, Majid Alfadhel, Tariq Faquih, Mohamed El-Kalioby, Shazia Subhani, Zeeshan Shah, Nabil Moghrabi, Brian F Meyer, Fowzan S Alkuraya
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants...
August 2017: Human Genetics
https://www.readbyqxmd.com/read/28513071/juvenile-idiopathic-arthritis-in-multiplex-families-longitudinal-follow-up
#9
Munira Al Marri, Alya Qari, Sulaiman M Al-Mayouf
OBJECTIVE: To describe the physical, social, educational and employment status and clinical outcomes of patients with juvenile idiopathic arthritis (JIA) from multiplex families. METHODS: All familial JIA patients were treated and had regular follow-up between 1990 and 2015 at King Faisal Specialist Hospital and Research Center (KFSH-RC), Riyadh, were included. Demographic data, disease duration, active arthritis and articular and extra-articular damage at last follow-up visit were reviewed...
May 16, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28476135/the-effects-of-inhaled-aztreonam-on-the-cystic-fibrosis-lung-microbiome
#10
Alya A Heirali, Matthew L Workentine, Nicole Acosta, Ali Poonja, Douglas G Storey, Ranjani Somayaji, Harvey R Rabin, Fiona J Whelan, Michael G Surette, Michael D Parkins
BACKGROUND: Aztreonam lysine for inhalation (AZLI) is an inhaled antibiotic used to treat chronic Pseudomonas aeruginosa infection in CF. AZLI improves lung function and quality of life, and reduces exacerbations-improvements attributed to its antipseudomonal activity. Given the extremely high aztreonam concentrations achieved in the lower airways by nebulization, we speculate this may extend its spectrum of activity to other organisms. As such, we sought to determine if AZLI affects the CF lung microbiome and whether community constituents can be used to predict treatment responsiveness...
May 5, 2017: Microbiome
https://www.readbyqxmd.com/read/28472026/progress-toward-measles-elimination-african-region-2013-2016
#11
Balcha G Masresha, Meredith G Dixon, Jennifer L Kriss, Reggis Katsande, Messeret E Shibeshi, Richard Luce, Amadou Fall, Annick R G A Dosseh, Charles R Byabamazima, Alya J Dabbagh, James L Goodson, Richard Mihigo
In 2011, the 46 World Health Organization (WHO) African Region (AFR) member states established a goal of measles elimination* by 2020, by achieving 1) ≥95% coverage of their target populations with the first dose of measles-containing vaccine (MCV1) at national and district levels; 2) ≥95% coverage with measles-containing vaccine (MCV) per district during supplemental immunization activities (SIAs); and 3) confirmed measles incidence of <1 case per 1 million population in all countries (1). Two key surveillance performance indicator targets include 1) investigating ≥2 cases of nonmeasles febrile rash illness per 100,000 population annually, and 2) obtaining a blood specimen from ≥1 suspected measles case in ≥80% of districts annually (2)...
May 5, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28470807/vascular-ring-unmasked
#12
Alya Ishak, Peter Le Souëf, André Schultz
No abstract text is available yet for this article.
May 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28455137/influence-of-static-magnetic-field-exposure-on-fatty-acid-composition-in-salmonella-hadar
#13
Ramla Ben Mouhoub, Alya El May, Imed Cheraief, Ahmed Landoulsi
We have been interested, in this work, to investigate the effect of the exposure to static magnetic field at 200 mT (SMF) on the fatty acid (FA) composition of Salmonella enterica subsp Enterica serovar Hadar isolate 287: effects on the proportion of saturated and unsaturated fatty acids (SFAs, UFAs), cyclopropane fatty acids (CFAs) and hydroxy fatty acids after exposure to the static magnetic field at 200 mT (SMF). Analysis with Gas Chromatography-Mass Spectrometry (GC-MS) of total lipid showed that the proportion of the most fatty acids was clearly affected...
July 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28417071/twenty-novel-mutations-in-bckdha-bckdhb-and-dbt-genes-in-a-cohort-of-52-saudi-arabian-patients-with-maple-syrup-urine-disease
#14
Faiqa Imtiaz, Abeer Al-Mostafa, Rabab Allam, Khushnooda Ramzan, Nada Al-Tassan, Asma I Tahir, Nouf S Al-Numair, Mohamed H Al-Hamed, Zuhair Al-Hassnan, Mohammad Al-Owain, Hamad Al-Zaidan, Mohammad Al-Amoudi, Alya Qari, Ameera Balobaid, Moeenaldeen Al-Sayed
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi Arabia. This report presents the results of mutation analysis of three of the four genes encoding the BCKD complex in 52 biochemically diagnosed MSUD patients originating from Saudi Arabia. The 25 mutations (20 novel) detected spanned across the entire coding regions of the BCKHDA, BCKDHB and DBT genes...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28365537/suicide-attempters-examined-in-a-parisian-emergency-department-contrasting-characteristics-associated-with-multiple-suicide-attempts-or-with-the-motive-to-die
#15
Florence Perquier, David Duroy, Camille Oudinet, Alya Maamar, Christophe Choquet, Enrique Casalino, Michel Lejoyeux
Among patients examined after a suicide attempt in a Parisian emergency department, we aimed to compare individual characteristics of i) first time and multiple suicide attempters, ii) attempters whose principal motive was "to die" and attempters who had any other motive. Information regarding sociodemographics, clinical characteristics, prior mental health care and outgoing referral was collected in 168 suicide attempters using a standardized form. Associations of these variables with suicide attempt repetition (yes or no) and with the motive underlying the attempt (to die or not) were examined using descriptive statistics and multivariable logistic regression models...
March 22, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28325287/cholesterol-containing-nuclease-resistant-sirna-accumulates-in-tumors-in-a-carrier-free-mode-and-silences-mdr1-gene
#16
Ivan V Chernikov, Daniil V Gladkikh, Mariya I Meschaninova, Alya G Ven'yaminova, Marina A Zenkova, Valentin V Vlassov, Elena L Chernolovskaya
Chemical modifications are an effective way to improve the therapeutic properties of small interfering RNAs (siRNAs), making them more resistant to degradation in serum and ensuring their delivery to target cells and tissues. Here, we studied the carrier-free biodistribution and biological activity of a nuclease-resistant anti-MDR1 cholesterol-siRNA conjugate in healthy and tumor-bearing severe combined immune deficiency (SCID) mice. The attachment of cholesterol to siRNA provided its efficient accumulation in the liver and in tumors, and reduced its retention in the kidneys after intravenous and intraperitoneal injection...
March 17, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28261574/persistent-and-recurrent-bacterial-bronchitis-a-paradigm-shift-in-our-understanding-of-chronic-respiratory-disease
#17
REVIEW
Alya Ishak, Mark L Everard
The recent recognition that the conducting airways are not "sterile" and that they have their own dynamic microbiome, together with the rapid advances in our understanding of microbial biofilms and their roles in the causation of respiratory diseases (such as chronic bronchitis, sinusitis, and chronic otitis media), permit us to update the "vicious circle" hypothesis of the causation of bronchiectasis. This proposes that chronic inflammation driven by persistent bacterial bronchitis (PBB) causes damage to both the epithelium, resulting in impaired mucociliary clearance, and to the airway wall, which eventually manifests as bronchiectasis...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28253277/longitudinal-sampling-of-the-lung-microbiota-in-individuals-with-cystic-fibrosis
#18
Fiona J Whelan, Alya A Heirali, Laura Rossi, Harvey R Rabin, Michael D Parkins, Michael G Surette
Cystic fibrosis (CF) manifests in the lungs resulting in chronic microbial infection. Most morbidity and mortality in CF is due to cycles of pulmonary exacerbations-episodes of acute inflammation in response to the lung microbiome-which are difficult to prevent and treat because their cause is not well understood. We hypothesized that longitudinal analyses of the bacterial component of the CF lung microbiome may elucidate causative agents within this community for pulmonary exacerbations. In this study, 6 participants were sampled thrice-weekly for up to one year...
2017: PloS One
https://www.readbyqxmd.com/read/28236576/targeted-intraceptor-nanoparticle-for-neovascular-macular-degeneration-preclinical-dose-optimization-and-toxicology-assessment
#19
Xiaohui Zhang, Austin Bohner, Sai Bhuvanagiri, Hironori Uehara, Arun Kumar Upadhyay, Lyska L Emerson, Sailaja Bondalapati, Santosh Kumar Muddana, Daniel Fang, Miaoling Li, Zoya Sandhu, Alya Hussain, Lara S Carroll, Michelle Tiem, Bonnie Archer, Uday Kompella, Rajkumar Patil, Balamurali K Ambati
Neovascular age-related macular degeneration (AMD) is treated with anti-VEGF intravitreal injections, which can cause geographic atrophy, infection, and retinal fibrosis. To minimize these toxicities, we developed a nanoparticle delivery system for recombinant Flt23k intraceptor plasmid (RGD.Flt23k.NP) to suppress VEGF intracellularly within choroidal neovascular (CNV) lesions in a laser-induced CNV mouse model through intravenous administration. In the current study, we examined the efficacy and safety of RGD...
July 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28126444/effect-of-freezing-sputum-on-pseudomonas-aeruginosa-population-heterogeneity
#20
Ali Poonja, Alya Heirali, Matthew Workentine, Douglas G Storey, Ranjani Somayaji, Harvey R Rabin, Michael G Surette, Michael D Parkins
Pseudomonas aeruginosa develops profound population heterogeneity in CF airways. How changes in these populations relate to clinical status is unknown. In order to facilitate this understanding, frequent sampling of this community is required. To determine if the collection and storage of sputum at home may pose a viable option, we collected sputum from ten patients. Sputum samples were partitioned in two, with half immediately processed on MacConkey agar and half assessed after freezing for one week in a home-freezer...
May 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
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