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https://www.readbyqxmd.com/read/28817112/monoallelic-and-biallelic-creb3l1-variant-causes-mild-and-severe-osteogenesis-imperfecta-respectively
#1
Rachel B Keller, Thao T Tran, Shawna M Pyott, Melanie G Pepin, Ravi Savarirayan, George McGillivray, Deborah A Nickerson, Michael J Bamshad, Peter H Byers
PurposeOsteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At least 15 additional genes have been identified, but those still do not account for all OI phenotypes that present. We sought the genetic cause of mild and lethal OI phenotypes in an unsolved family.MethodsWe performed exome sequencing on seven members of the family, both affected and unaffected.ResultsWe identified a variant in cyclic AMP responsive element binding protein 3-like 1 (CREB3L1) in a consanguineous family...
August 17, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28815371/-side-effects-of-modernity-dam-building-health-care-and-the-construction-of-power-in-the-context-of-the-control-of-schistosomiasis-in-egypt-in-the-1960s-and-early-1970s
#2
Benjamin Brendel
This article analyzes the modernization campaigns in Egypt in the 1960s and early 1970s. The regulation of the Nile by the Aswan High Dam and the resulting irrigation projects caused the rate of schistosomiasis infestation in the population to rise. The result was a discourse between experts from the global north and Egyptian elites about modernization, development aid, dam building and health care. The fight against schistosomiasis was like a cipher, which combined different power-laden concepts and arguments...
August 16, 2017: NTM
https://www.readbyqxmd.com/read/28808332/magnetic-microsphere-based-portable-solid-phase-extraction-device-for-on-site-pre-concentration-of-organics-from-large-volume-water-samples
#3
Zhijian Yao, Qingqing Zhao, Yan Ma, Wei Wang, Qing Zhou, Aimin Li
In this research a new magnetic material called M88 was fully synthetized and characterized for the extraction of pharmaceutical and personal care products in water samples. In addition, a portable prototype of magnetic solidphase extraction (MSPE) device was developed for the onsite preconcentration. The MSPE coupling with high performance liquid chromatography-Diode array detector (HPLC-DAD) method was developed and validated for simultaneous analysis of 11 PPCPs (mefenamic acid, chloroamphenicol, ketoprofen, clofibric acid, indometacin, acetylsalicylic acid, bisphenol A, phenylphenol, gemfibrozil, triclosan, and ibuprofen) in environmental water samples...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28806141/cutaneous-leishmaniasis-in-saudi-arabia-a-comprehensive-overview
#4
Abuzaid A Abuzaid, Abdalmohsin M Abdoon, Mohamed A Aldahan, Abdullah G Alzahrani, Raaft F Alhakeem, Abdullah M Asiri, Mohamed H Alzahrani, Ziad A Memish
Despite the great efforts by health authorities in Kingdom of Saudi Arabia (KSA), Cutaneous Leishmaniasis (CL) continues to be a major public health problem in the country. Many risk factors make KSA prone to outbreaks and epidemics; among these, rapid urbanization and the huge population movement are the most important. The disease is endemic in many parts of KSA, with the majority of cases concentrated in six regions, including Al-Qaseem, Riyadh, Al-Hassa, Aseer, Ha'il, and Al-Madinah. Leishmania major (L...
August 14, 2017: Vector Borne and Zoonotic Diseases
https://www.readbyqxmd.com/read/28803560/evidence-of-exposure-of-laughing-doves-spilopelia-senegalensis-to-west-nile-and-usutu-viruses-in-southern-tunisian-oases
#5
T Ayadi, A Hammouda, A Poux, T Boulinier, S Lecollinet, S Selmi
It has previously been suggested that southern Tunisian oases may be suitable areas for the circulation of flaviviruses. In order to anticipate and prevent possible epidemiological spread of flaviviruses in humans and domestic animals, the ecology of their transmission in the oasis system needs to be better understood. Thus, the aim of this study was to assess the seroprevalence of anti-flavivirus antibodies in the laughing dove (Spilopelia senegalensis), an abundant resident bird in Tunisian oases. Anti-flavivirus antibodies were detected in 17% of sampled doves...
August 14, 2017: Epidemiology and Infection
https://www.readbyqxmd.com/read/28798390/windblown-sediment-transport-and-loss-in-a-desert-oasis-ecotone-in-the-tarim-basin
#6
Huawei Pi, Brenton Sharratt, Jiaqiang Lei
The Tarim Basin is regarded as one of the most highly erodible areas in China. Desert comprises 64% of the land use in the Basin, but the desert-oasis ecotone plays a prominent role in maintaining oasis ecological security and stability. Yet, little is known concerning the magnitude of windblown sediment transport in a desert-oasis ecotone. Therefore, aeolian sediment transport and loss was assessed from a desert-oasis experimental site located near Alaer City in the northwestern Tarim Basin. Sediment transport and factors governing transport were measured during three high wind events in 2012 and four events in 2013...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28797561/self-reported-psychosis-like-experiences-in-patients-with-mood-disorders
#7
I Baryshnikov, J Suvisaari, K Aaltonen, M Koivisto, T Melartin, P Näätänen, K Suominen, B Karpov, M Heikkinen, J Oksanen, T Paunio, G Joffe, E Isometsä
BACKGROUND: Self-reported psychosis-like experiences (PEs) may be common in patients with mood disorders, but their clinical correlates are not well known. We investigated their prevalence and relationships with self-reported symptoms of depression, mania, anxiety, borderline (BPD) and schizotypal (SPD) personality disorders among psychiatric patients with mood disorders. METHODS: The Community Assessment of Psychic Experiences (CAPE-42), Mood Disorder Questionnaire (MDQ), McLean Screening Instrument (MSI), The Beck Depressive Inventory (BDI), Overall Anxiety Severity and Impairment Scale (OASIS) and Schizotypal Personality Questionnaire-Brief form (SPQ-B) were filled in by patients with mood disorders (n=282) from specialized care...
February 3, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28783898/innovative-spe-lc-ms-ms-technique-for-the-assessment-of-63-pharmaceuticals-and-the-detection-of-antibiotic-resistant-bacteria-a-case-study-natural-water-sources-in-lebanon
#8
Samia Mokh, Mohammad El Khatib, Mohamad Koubar, Zeina Daher, Mohamad Al Iskandarani
A powerful analytical method for simultaneous determination of 63 pharmaceuticals and some metabolites in aqueous samples has been developed. The list of compounds amenable to the methods includes different therapeutic classes belonging to antibiotics, stimulants, antidepressants, mucolytics, and antiparasites. The method involves concentration and clean up by an offline solid phase extraction SPE followed by liquid chromatography coupled to tandem mass spectrometry (LC-ESI-MS/MS). The recovery of the target compounds from water samples was most efficient on Waters Oasis HLB SPE cartridge, while acetonitrile/water (60/40) was shown to be the most suitable solvent for desorbing the compounds from SPE...
July 31, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28782264/anal-sphincter-defects-and-faecal-incontinence-15-24-years-after-first-delivery-a-cross-sectional-study
#9
Rodrigo A Guzmán Rojas, Kjell Å Salvesen, Ingrid Volløyhaug
OBJECTIVES: To establish the prevalence of external (EAS) and internal anal sphincter (IAS) defects 15-24 years after childbirth in association to mode of delivery and faecal incontinence (FI), and compare the proportion of obstetric anal sphincter injuries (OASIS) reported at delivery with defects on ultrasound. METHODS: This was a cross-sectional study including 563 women, who delivered their first child from 1990-97. Women responded to a validated questionnaire (PFDI) in 2013-14...
August 6, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28776641/the-great-divide-country-of-birth-as-a-risk-factor-for-obstetric-anal-sphincter-injuries
#10
James Brown, Supuni Kapurubandara, Emma Gibbs, Jennifer King
BACKGROUND: Obstetric anal sphincter injuries (OASIS) can complicate up to 6% of births and are a major contributor to preventable maternal morbidity. Asian women have a risk of third and fourth degree perineal tears up to four times greater than women of other ethnicities in the same community, but the lack of differentiation of Asian women into regional groups has limited insight into the reasons behind their increased risk. AIMS: To investigate risk of OASIS associated with country of birth...
August 4, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28759225/determination-of-glyphosate-maleic-hydrazide-fosetyl-aluminum-and-ethephon-in-grapes-by-liquid-chromatography-tandem-mass-spectrometry
#11
Narong Chamkasem
A simple high-throughput liquid chromatography/tandem mass spectrometry (LC-MS-MS) method was developed for the determination of maleic hydrazide, glyphosate, fosetyl aluminum, and ethephon in grapes using a reversed-phase column with weak anion-exchange and cation-exchange mixed mode. A 5 g test portion was shaken with 50 mM HOAc and 10 mM Na2EDTA in 1/3 (v/v) MeOH/H2O for 10 min. After centrifugation, the extract was passed through an Oasis HLB cartridge to retain suspended particulates and nonpolar interferences...
August 17, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28755869/maternal-exposure-to-childhood-maltreatment-and-risk-of-stillbirth
#12
Alexa A Freedman, Alison L Cammack, Jeff R Temple, Robert M Silver, Donald J Dudley, Barbara J Stoll, Michael W Varner, George R Saade, Deborah Conway, Robert L Goldenberg, Carol J Hogue
PURPOSE: To determine the association between maternal exposure to childhood maltreatment (CM) and risk of stillbirth (fetal death at or after 20 weeks' gestation). METHODS: Population-based case-control study from the Stillbirth Collaborative Research Network (SCRN) conducted in 2006-2008, and the follow-up study, SCRN-Outcomes after Study Index Stillbirth (SCRN-OASIS), conducted in 2009 in the United States. Cases (n = 133) included women who experienced a stillbirth, excluding stillbirths attributed to genetic/structural or umbilical cord abnormalities and intrapartum stillbirths...
July 13, 2017: Annals of Epidemiology
https://www.readbyqxmd.com/read/28743395/biomonitoring-of-fluoroalkylated-substances-in-antarctica-seabird-plasma-development-and-validation-of-a-fast-and-rugged-method-using-on-line-concentration-liquid-chromatography-tandem-mass-spectrometry
#13
Gabriel Munoz, Pierre Labadie, Emmanuel Geneste, Patrick Pardon, Sabrina Tartu, Olivier Chastel, Hélène Budzinski
We report on a fast, accurate and rugged analytical procedure to determine a wide span of perfluoroalkyl and polyfluoroalkyl substances (PFASs) in seabird plasma. The 26 investigated compounds included perfluoroalkyl carboxylates (C5-C14 PFCAs), perfluoroalkyl sulfonates (C4, C6, C7, C8, C10 PFSAs), perfluorooctane sulfonamide (FOSA) and N-alkyl derivatives (MeFOSA, EtFOSA), N-alkyl perfluorooctane sulfonamido acetic acids (MeFOSAA, EtFOSAA), fluorotelomer sulfonates (4:2 FTSA, 6:2 FTSA, 8:2 FTSA), polyfluoroalkyl phosphate diesters (diPAPs) and perfluorooctane sulfonamide phosphate diester (diSAmPAP)...
July 10, 2017: Journal of Chromatography. A
https://www.readbyqxmd.com/read/28738586/development-of-a-solid-phase-extraction-method-with-simple-mekc-uv-analysis-for-simultaneous-detection-of-indole-metabolites-in-human-urine-after-administration-of-indole-dietary-supplement
#14
Apichai Phonchai, Prapin Wilairat, Rattikan Chantiwas
This work presents the development of a solid phase extraction method with simple MEKC-UV analysis for the simultaneous determination of indole-3-carbinol (I3C) and its metabolites (3, 3'-diindolylmethane (DIM), indole-3-carboxaldehyde (I3CAL), indole-3-acetonitrile (I3A)) in human urine after oral administration of an indole dietary supplement. Solid phase extraction (SPE) method was applied for the first time for simultaneous analysis of these indole metabolites. The MEKC separation method was developed in a previous work...
November 1, 2017: Talanta
https://www.readbyqxmd.com/read/28734908/why-transition-risk-to-psychosis-is-not-declining-at-the-oasis-ultra-high-risk-service-the-hidden-role-of-stable-pretest-risk-enrichment
#15
P Fusar-Poli, E Palombini, C Davies, D Oliver, I Bonoldi, V Ramella-Cravaro, P McGuire
BACKGROUND: The reason for declining risk to psychosis across individuals assessed and meeting Ultra High Risk (UHR) criteria is still unclear. No studies have investigated the potential substantial role of the underlying risk enrichment across all the individuals undergoing an UHR assessment. METHODS: Cohort study including all non-psychotic subjects who were assessed on suspicion of psychosis risk by the OASIS UHR service in the period 2001 to 2015. Posttest (after UHR assessment) and pretest risk (before UHR assessment) of psychosis were stratified and compared across three time periods (2001-2005, 2006-2010, 2011-2015) with Cox analysis and modulating factors were investigated...
July 19, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28727899/sacral-neuromodulation-for-combined-faecal-and-urinary-incontinence-following-obstetric-anal-sphincter-injury
#16
M Rydningen, Stine Riise, T Wilsgaard, R O Lindsetmo, S Norderval
AIM: The aim of this study was to investigate the efficacy of sacral neuromodulation (SNM) in the treatment of faecal incontinence and concomitant urinary incontinence in women with a history of obstetric anal sphincter injury (OASIS). METHOD: In this prospective study, consecutive women with faecal incontinence following OASIS accepted for SNM were screened for concomitant urinary incontinence. The primary outcome was the change in urinary incontinence score (ICIQ-UI-SF) between baseline and 12 months...
July 20, 2017: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/28721483/the-effectiveness-of-mediolateral-episiotomy-in-preventing-obstetric-anal-sphincter-injuries-during-operative-vaginal-delivery-a-ten-year-analysis-of-a-national-registry
#17
Jeroen van Bavel, Chantal W P M Hukkelhoven, Charlotte de Vries, Dimitri N M Papatsonis, Joey de Vogel, Jan-Paul W R Roovers, Ben Willem Mol, Jan Willem de Leeuw
INTRODUCTION AND HYPOTHESIS: Obstetric anal sphincter injuries (OASIS) are associated with an increased risk of faecal incontinence after vaginal delivery. The aim of this retrospective population-based cohort study was to assess whether mediolateral episiotomy is associated with a reduction in the rate of OASIS during operative vaginal delivery. METHODS: We used data from the Dutch Perinatal Registry (Perined) that includes records of almost all births between 2000 and 2010 in The Netherlands...
July 18, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/28718603/-long-term-consequences-of-obstetrical-anal-sphincter-injuries-on-sexual-function
#18
Maud De Rham, Sylvain Meyer, Chahin Achtari, Sandra Fornage
Obstetrical anal sphincter injuries (OASIS) can lead to sexual dysfunction. Literature is poor concerning long-term consequences of OASIS on female sexuality. The objective of this paper is to clarify long-term consequences of OASIS on sexual function. Dyspareunia and lubrication troubles are constantly reported based on articles reviewed in literature through Pubmed. Nevertheless, global sexual function seems not to be influenced by OASIS on a long-term basis. Therefore, sexual dysfunctions must be specifically analysed in women's follow-up after OASIS...
March 15, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28712568/the-discovery-of-wild-date-palms-in-oman-reveals-a-complex-domestication-history-involving-centers-in-the-middle-east-and-africa
#19
Muriel Gros-Balthazard, Marco Galimberti, Athanasios Kousathanas, Claire Newton, Sarah Ivorra, Laure Paradis, Yves Vigouroux, Robert Carter, Margareta Tengberg, Vincent Battesti, Sylvain Santoni, Laurent Falquet, Jean-Christophe Pintaud, Jean-Frédéric Terral, Daniel Wegmann
For many crops, wild relatives constitute an extraordinary resource for cultivar improvement [1, 2] and also help to better understand the history of their domestication [3]. However, the wild ancestor species of several perennial crops have not yet been identified. Perennial crops generally present a weak domestication syndrome allowing cultivated individuals to establish feral populations difficult to distinguish from truly wild populations, and there is frequently ongoing gene flow between wild relatives and the crop that might erode most genetic differences [4]...
July 24, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28710734/multi-class-determination-of-pharmaceuticals-in-wastewaters-by-solid-phase-extraction-and-liquid-chromatography-tandem-mass-spectrometry-with-matrix-effect-study
#20
Mirta Čizmić, Sandra Babić, Marija Kaštelan-Macan
In this work, a multi-class analytical method for determination of 22 frequently used pharmaceuticals was developed and validated. Analytes were from different classes for example macrolides, fluoroquinolones, tetracyclines, sulfonamides, anthelmintics, anesthetics, and others. Method was intended for analysis of aqueous samples so the sample preparation was done using solid-phase extraction (SPE). Different sorbents (C8, C18, polymeric, and ion exchange sorbents) combining different eluents (methanol, ethanol, acetonitrile, acetone, ethyl acetate) were investigated during development of sample preparation step...
July 15, 2017: Environmental Science and Pollution Research International
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