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https://www.readbyqxmd.com/read/28630369/alpk3-gene-mutation-in-a-patient-with-congenital-cardiomyopathy-and-dysmorphic-features
#1
Ahmet Okay Cağlayan, Rabia Gonul Sezer, Hande Kaymakcalan, Ege Ulgen, Taner Yavuz, Jacob F Baranoski, Abdulkadir Bozaykut, Akdes Serin Harmanci, Yalim Yalcin, Mark W Youngblood, Katsuhito Yasuno, Kaya Bilguvar, Murat Gunel
Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and also as a high-throughput discovery tool for identifying novel disease causing genes. We describe a male infant with primary dilated cardiomyopathy that was diagnosed using intrauterine echocardiography, and found to progress to hypertrophic cardiomyopathy after birth...
June 19, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28628996/pvp-and-peg-doped-cuo-nanoparticles-are-more-biologically-active-antibacterial-antioxidant-antidiabetic-and-cytotoxic-perspective
#2
Rabia Javed, Madiha Ahmed, Ihsan Ul Haq, Sobia Nisa, Muhammad Zia
Search for biologically active nanoparticles is prerequisite for biomedical applications. CuO nanoparticles synthesized by co-precipitation method are capped by polyethylene-glycol (PEG) and polyvinyl-pyrrolidone (PVP) on the surface by simple adsorption. Physical and chemical properties carried out by SEM, XRD and FTIR confirm nanometer in size and efficient capping of PVP and PEG on CuO NPs. Biological assays reveal higher activities of CuO-PEG and CuO-PVP as compared to the uncapped CuO nanoparticles. CuO-PEG shows better antitumor activity against Streptomyces as compared with CuO-PVP and CuO NPs...
October 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/28612220/individual-outcome-prediction-for-myelodysplastic-syndrome-mds-and-secondary-acute-myeloid-leukemia-from-mds-after-allogeneic-hematopoietic-cell-transplantation
#3
Michael Heuser, Razif Gabdoulline, Patrick Löffeld, Vera Dobbernack, Henriette Kreimeyer, Mira Pankratz, Madita Flintrop, Alessandro Liebich, Sabrina Klesse, Victoria Panagiota, Michael Stadler, Martin Wichmann, Rabia Shahswar, Uwe Platzbecker, Christian Thiede, Thomas Schroeder, Guido Kobbe, Robert Geffers, Brigitte Schlegelberger, Gudrun Göhring, Hans-Heinrich Kreipe, Ulrich Germing, Arnold Ganser, Nicolaus Kröger, Christian Koenecke, Felicitas Thol
We integrated molecular data with available prognostic factors in patients undergoing allogeneic hematopoietic cell transplantation (alloHCT) for myelodysplastic syndrome (MDS) or secondary acute myeloid leukemia (sAML) from MDS to evaluate their impact on prognosis. Three hundred four patients were sequenced for mutations in 54 genes. We used a Cox multivariate model and competing risk analysis with internal and cross validation to identify factors prognostic of overall survival (OS), cumulative incidence of relapse (CIR), and non-relapse mortality (NRM)...
June 13, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28609293/visualization-and-analysis-of-micrornas-within-kegg-pathways-using-vanesa
#4
Hamid Hamzeiy, Rabia Suluyayla, Christoph Brinkrolf, Sebastian Jan Janowski, Ralf Hofestaedt, Jens Allmer
MicroRNAs (miRNAs) are small RNA molecules which are known to take part in post-transcriptional regulation of gene expression. Here, VANESA, an existing platform for reconstructing, visualizing, and analysis of large biological networks, has been further expanded to include all experimentally validated human miRNAs available within miRBase, TarBase and miRTarBase. This is done by integrating a custom hybrid miRNA database to DAWIS-M.D., VANESA's main data source, enabling the visualization and analysis of miRNAs within large biological pathways such as those found within the Kyoto Encyclopedia of Genes and Genomes (KEGG)...
June 13, 2017: Journal of Integrative Bioinformatics
https://www.readbyqxmd.com/read/28609231/methadone-dose-selection-for-treatment-of-pain-compared-with-consensus-recommendations
#5
Parisa Karimian, Rabia S Atayee, Toluwalase A Ajayi, Kyle P Edmonds
BACKGROUND: Many factors make methadone an appealing option for treatment of pain in patients seen by palliative care; however, complex drug-related properties and variable patient response complicate appropriate conversion ratios from other opioids to methadone. Currently, there is no consensus regarding one accepted conversion method. OBJECTIVE: Current patterns of prescribing for clinicians at a three-hospital academic health system on initial rotation to methadone for the management of pain were compared with a series of consensus recommendations for methadone dose calculation...
June 13, 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/28608808/drivers-of-microbial-risk-for-direct-potable-reuse-and-de-facto-reuse-treatment-schemes-the-impacts-of-source-water-quality-and-blending
#6
Rabia M Chaudhry, Kerry A Hamilton, Charles N Haas, Kara L Nelson
Although reclaimed water for potable applications has many potential benefits, it poses concerns for chemical and microbial risks to consumers. We present a quantitative microbial risk assessment (QMRA) Monte Carlo framework to compare a de facto water reuse scenario (treated wastewater-impacted surface water) with four hypothetical Direct Potable Reuse (DPR) scenarios for Norovirus, Cryptosporidium, and Salmonella. Consumer microbial risks of surface source water quality (impacted by 0-100% treated wastewater effluent) were assessed...
June 13, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28603129/pharmaceutical-and-in-vitro-therapeutic-equivalence-studies-of-ketoprofen-enteric-coated-100-mg-tablets
#7
Farya Zafar, Muhammad Harris Shoaib, Huma Ali, Rabia Ismail Yousuf, Ghazala Raza Naqvi, Zebun Nisa, Yusra Shafiq
The objective of this study was to assess the quality of six different brands of enteric coated Ketoprofen 100 mg tablets, KPB2 to KPB6 are available in commercial market of Karachi, Pakistan, while KPB1 was obtained from international source. We performed different physico-chemical assessments i.e. weight variation, diameter, hardness, friability, thickness, disintegration, content uniformity, assay and dissolution test. Results of all the investigations were found to be in adequate limits. Also pharmaceutical equivalence was determined by selecting different tests and assay assessment...
January 2017: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28603124/validation-and-application-of-high-performance-liquid-chromatographic-method-for-the-estimation-of-metoclopramide-hydrochloride-in-plasma
#8
Ahmad Khan, Jallat Khan, Muhammad Irfan, Syed Baqir Shyum Naqvi, Gul Majid Khan, Muhammad Harris Shoaib, Rabia Ismail Yousaf, Amjad Khan
The objective of this study was validation of a reverse phase HPLC method for the estimation of metoclopramide HCl in plasma already validated for determination of metoclopramide HCl in tablets dosage form. A reverse chromatographic method was used for estimation of metoclopramide HCl with the mobile phase of acetonitrile, 20mM potassium dihydrogen phosphate buffer solution (pH 3.0 adjusted with orthophosphoric acid) in the ratio of 40: 60. The column used was Waters C18 3.9×300mm µBondapak (RP). The flow rate of the mobile phase was 2ml/ minute...
January 2017: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28598707/twelve-tips-for-undertaking-reflexive-global-health-experiences-in-medicine
#9
Rabia Khan, Brian Hodges, Maria Athina Tina Martimianakis, Donald Cole
BACKGROUND: While interest and opportunities for global health experiences (GHE) continue to grow, the preparation of students and health professionals alike to engage in these GHEs remains limited. AIMS: This article provides tips for reflexivity prior to undertaking a GHE and suggests ways to debrief the experience in order to ensure that trainees and professionals that engage in GHEs can both help their intended communities and also get the most out of the experience...
June 9, 2017: Medical Teacher
https://www.readbyqxmd.com/read/28595660/health-technology-assessment-in-turkey
#10
Rabia Kahveci, Esra Meltem Koç, Emine Özer Küçük
OBJECTIVES: The healthcare transformation program in Turkey has shown its success with improvements in important health indicators, increased access to healthcare services and expansion of coverage to all citizens. Turkey has been relatively able to bear the burdens associated with this due to rapid economic growth. The need for health technology assessment (HTA) was believed as a result of the expansion of coverage, pressure of new technologies, and increased expenditures. This study outlines the background and current formalization of HTA and shares the current use of HTA in decision making, while summarizing the transformation of the Turkish healthcare system for developing a high-quality, equal, and accessible care system...
June 9, 2017: International Journal of Technology Assessment in Health Care
https://www.readbyqxmd.com/read/28595608/antimicrobial-activity-toxicity-and-anti-inflammatory-potential-of-methanolic-extracts-of-four-ethnomedicinal-plant-species-from-punjab-pakistan
#11
Rabia Naz, Hafsa Ayub, Sajid Nawaz, Zia Ul Islam, Tayyaba Yasmin, Asghari Bano, Abdul Wakeel, Saqib Zia, Thomas H Roberts
BACKGROUND: The plant species Aristolochia indica (AI), Melilotus indicus (MI), Tribulus terrestris (TT) and Cuscuta pedicellata (CP) are widely used in folk medicine in the villages around Chowk Azam, South Punjab, Pakistan. The aim of this study was to evaluate the antioxidant activity, phytochemical composition, and the antibacterial, antifungal, cytotoxic and anti-inflammatory potential of the four medicinal plants listed above. For CP stem, this study represents (to the best of our knowledge) the first time phytochemicals have been identified and the antioxidant and anti-inflammatory potential determined...
June 8, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28586176/visible-light-photoreduction-of-co2-into-ch4-over-znte-modified-tio2-coral-like-nanostructures
#12
Muhammad Fahad Ehsan, Rabia Khan, Tao He
Rapidly depleting fossil fuels and the related environmental issues are the two alarming global concerns the world is facing today. To efficiently address these issues, the future energy requirements need to be fulfilled via renewable as well as environment friendly resources. In this context, we report the ZnTe modified TiO2 photocatalysts with varying ZnTe modification amounts, i.e., 1.96, 16 and 65% for the visible-light carbon dioxide photoreduction into methane. The hydrothermally synthesized photocatalysts have been characterized through various techniques including X-ray diffraction, scanning electron microscopy coupled with energy dispersive X-ray spectroscopy, transmission electron microscopy, UV-vis spectroscopy, X-ray photoelectron spectroscopy and Brauner-Emmett-Tauler (BET) analysis for surface area measurements...
June 6, 2017: Chemphyschem: a European Journal of Chemical Physics and Physical Chemistry
https://www.readbyqxmd.com/read/28579508/decompressive-hemicraniectomy-for-malignant-middle-cerebral-artery-stroke-south-asian-experience
#13
Saadat Kamran, Naveed Akhtar, Abdul Salam, Ayman Alboudi, Hiba Rashid, Kainat Kamran, Rabia Ali Khan, Mohsin Khalid Mirza, Arsalan Ahmed, Ahmed M A Own, Sohail Al Rukun, Jihad Inshasi, Dirk Deleu, Ghanim Al Sulaiti, Ashfaq Shuaib
BACKGROUND: The randomized trials showed improved outcome and reduced mortality in malignant middle cerebral artery (MMCA) undergoing Decompressive hemicraniectomy (DHC) within 48 hours of stroke onset. Despite high prevalence of stroke, especially in younger individuals, high and short-term mortality from stroke in South Asian and Middle East, there is little published data on DHC in patients with MMCA stroke. METHODS: This is a retrospective, multicenter cross-sectional study to measure outcome following DHC using the modified Rankin Scale (mRS) and dichotomized as favorable (mRS ≤ 4) or unfavorable (mRS > 4), at 3 months...
June 1, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28576213/mechanical-exposure-of-ophthalmic-surgeons-a-quantitative-ergonomic-evaluation-of-indirect-ophthalmoscopy-and-slit-lamp-biomicroscopy
#14
Conrad Shaw, Rabia Bourkiza, Louisa Wickham, Ian Mccarthy, Cordelia Mckechnie
OBJECTIVE: Vitreoretinal (VR) surgeons have high rates of spinal pain. The aim of this study was to investigate if VR surgeons adopt more complex postures in indirect ophthalmoscopy procedures compared with procedures involving the slit-lamp or operating microscope. METHODS: Postures of the neck, back, and overall spine were measured by inclinometers on 13 VR surgeons. Each doctor was measured during 3 indirect examinations and 3 slit-lamp examinations (SLE), and then during 1 operating microscope procedure (phacoemulsification/vitrectomy) and 1 indirect procedure (indirect laser or cryotherapy/buckle)...
June 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/28572461/the-effects-of-5-year-etanercept-therapy-on-cardiovascular-risk-factors-in-patients-with-psoriatic-arthritis
#15
Rabia Agca, Maaike Heslinga, Eva L Kneepkens, Carlo van Dongen, Michael T Nurmohamed
OBJECTIVE: To investigate the effects of etanercept (ETN) on lipid metabolism and other known cardiovascular disease (CVD) risk factors in patients with psoriatic arthritis (PsA). METHODS: In an observational cohort of 118 consecutive patients with PsA, CVD risk factors were assessed over 5 years. Mixed-model analyses were performed to investigate the effects of ETN therapy on CVD risk factors over time. RESULTS: Disease Activity Score in 28 joints, C-reactive protein (CRP), and erythrocyte sedimentation rate decreased during therapy with ETN...
June 1, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28570054/directing-the-heterologous-production-of-specific-cyanobacterial-toxin-variants
#16
Tianzhe Liu, Rabia Mazmouz, Sarah E Ongley, Rocky Chau, Russell Pickford, Jason N Woodhouse, Brett A Neilan
Microcystins are globally the most commonly occurring freshwater cyanotoxins, causing acute poisoning and chronically inducing hepatocellular carcinoma. However, the detection and toxicological study of microcystins is hampered by the limited availability and high cost of pure toxin standards. Biosynthesis of microcystin variants in a fast-growing heterologous host offers a promising method of achieving reliable and economically viable alternative to isolating toxin from slow-growing cyanobacterial cultures...
June 7, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28562508/biallelic-pms2-mutation-and-heterozygous-dicer1-mutation-presenting-as-constitutional-mismatch-repair-deficiency-with-corpus-callosum-agenesis-case-report-and-review-of-literature
#17
Cletus Cheyuo, Walid Radwan, Janice Ahn, Kymberly Gyure, Rabia Qaiser, Patrick Tomboc
Constitutional mismatch repair deficiency syndrome is a cancer predisposition syndrome caused by autosomal recessive biallelic (homozygous) germline mutations in the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). The clinical spectrum includes neoplastic and non-neoplastic manifestations. We present the case of a 7-year-old boy who presented with T-lymphoblastic lymphoma and glioblastoma, together with non-neoplastic manifestations including corpus callosum agenesis, arachnoid cyst, developmental venous anomaly, and hydrocephalus...
May 29, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28549000/a-comparison-of-anterior-and-posterior-lumbar-interbody-fusions-complications-readmissions-discharge-dispositions-and-costs
#18
Rabia Qureshi, Varun Puvanesarajah, Amit Jain, Adam L Shimer, Francis H Shen, Hamid Hassanzadeh
STUDY DESIGN: Retrospective Database Review OBJECTIVE.: To understand medical complication rates, readmission rates, costs and discharge dispositions in ALIFs versus TLIF/PLIFs for lumbar degenerative disease. SUMMARY OF BACKGROUND DATA: Indications for anterior (ALIFs) vs posterior lumbar interbody fusions (PLIFs) can vary, though benefits of anterior approach surgery include full access to the anterior column and ability to place fusion devices. METHODS: The PearlDiver Database of Medicare records was utilized for this retrospective database review...
May 25, 2017: Spine
https://www.readbyqxmd.com/read/28547727/isolation-purification-and-chemical-characterization-of-a-new-angucyclinone-compound-produced-by-a-new-halotolerant-nocardiopsis-sp-hr-4-strain
#19
Yamina Hadj Rabia-Boukhalfa, Yannick Eveno, Solange Karama, Okba Selama, Béatrice Lauga, Robert Duran, Hocine Hacène, Véronique Eparvier
A halotolerant Actinobacteria strain HR-4 was isolated from a salt lake soil sample in Algerian Sahara. Analysis of 16S rDNA gene sequence showed that strain HR-4 belonged to the genus Nocardiopsis. The similarity level ranges between 97.45 and 99.20% with Nocardiopsis species and Nocardiopsis rosea being the most closely related one. Morphological, physiological and phylogenetic characteristics comparisons showed significant differences with the nearest species. These data strongly suggest that strain HR-4 represents novel species...
June 2017: World Journal of Microbiology & Biotechnology
https://www.readbyqxmd.com/read/28546920/ocular-penetration-of-topically-applied-1-tigecycline-in-a-rabbit-model
#20
Yasar Sakarya, Rabia Sakarya, Muammer Ozcimen, Sertan Goktas, Serap Ozcimen, Ismail Alpfidan, Ismail Senol Ivacık, Erkan Erdogan, Servet Cetinkaya, Abdulkadir Bukus
AIM: To evaluate ocular penetration of topically applied 1% tigecycline. METHODS: Forty-two New Zealand White rabbits were divided into 3 groups. A 50 µL drop of 1% tigecycline was administered in group 1. In groups 2 and 3, the drop was administered every 15min for 60min (keratitis protocol). Aqueous humor samples in groups 1 and 2 were collected under general anesthesia at 15, 30, 45, 60, 120, and 180min after the last drop. All animals in group 3 were euthanatized...
2017: International Journal of Ophthalmology
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