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https://www.readbyqxmd.com/read/28449304/a-case-of-familial-transmission-of-the-newly-described-dnmt3a-overgrowth-syndrome
#1
Gabrielle Lemire, Julie Gauthier, Jean-François Soucy, Marie-Ange Delrue
DNMT3A-Overgrowth Syndrome (also known as Tatton-Brown-Rahman Syndrome) (MIM 615879) has recently been described in 13 individuals with de novo heterozygous mutations in DNMT3A gene. This autosomal dominant condition is characterized by overgrowth, dysmorphic facial features and moderate intellectual disability. Missense and truncating point mutations, a small in-frame deletion, as well as microdeletion 2p23 have been reported. Moreover, DNMT3A is commonly somatically mutated in acute myeloid leukemia. We herein report a family with two siblings and their father affected by the syndrome...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28448562/the-impact-of-anti-drug-antibodies-on-drug-concentrations-and-clinical-outcomes-in-rheumatoid-arthritis-patients-treated-with-adalimumab-etanercept-or-infliximab-results-from-a-multinational-real-world-clinical-practice-non-interventional-study
#2
Robert J Moots, Ricardo M Xavier, Chi Chiu Mok, Mahboob U Rahman, Wen-Chan Tsai, Mustafa H Al-Maini, Karel Pavelka, Ehab Mahgoub, Sameer Kotak, Joan Korth-Bradley, Ron Pedersen, Linda Mele, Qi Shen, Bonnie Vlahos
OBJECTIVE: To assess the incidence of anti-drug antibodies (ADA) in patients with rheumatoid arthritis (RA) treated with the TNF inhibitors etanercept (ETN), adalimumab (ADL), or infliximab (IFX), and determine the potential relationship with trough drug concentration, efficacy, and patient-reported outcomes. METHODS: This multi-national, non-interventional, cross-sectional study (NCT01981473) enrolled adult patients with RA treated continuously for 6-24 months with ETN, ADL, or IFX...
2017: PloS One
https://www.readbyqxmd.com/read/28448404/dynamic-contrast-enhanced-magnetic-resonance-imaging-of-ocular-melanoma-as-a-tool-to-predict-metastatic-potential
#3
Wenbo Wei, Guang Jia, Hendrik von Tengg-Kobligk, Johannes T Heverhagen, Mohamed Abdel-Rahman, Lai Wei, John B Christoforidis, Frederick Davidorf, Michael V Knopp
PURPOSE: This study explores the capability of dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) to differentiate tumor characteristics of metastatic and nonmetastatic choroidal melanoma as a potential tool for patient management. MATERIALS AND METHODS: A total of 13 patients (69 ± 9 years) with choroidal melanoma were imaged using DCE-MRI on a 3-T MRI system with a 16-channel head coil. The Tofts 2-compartment model was chosen for quantification, and parameters K (the transfer constant from the blood plasma to the extracellular space) and Kep (the transfer constant from the extracellular space to the blood plasma) were calculated and compared...
April 26, 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/28447070/ratios-of-soluble-and-insoluble-dietary-fibers-on-satiety-and-energy-intake-in-overweight-pre-and-postmenopausal-women
#4
Britt Burton-Freeman, Dhanesh Liyanage, Sajida Rahman, Indika Edirisinghe
BACKGROUND: Fibers' properties impact different mechanisms involved in satiety and energy intake regulation and metabolic outcomes. OBJECTIVE: Evaluate the effect of fiber types and menopausal status on satiety and metabolic responses in overweight women. METHODS: In a randomized within-subjects design, 19 overweight/obese women [9 premenopausal and 10 postmenopausal] consumed 3 preloads that varied by fiber content and source: 1) 3:1 ratio of soluble:insoluble fiber (SF), 2) 1:3 ratio of soluble:insoluble fiber (IF), 3) no fiber control (NFC)...
March 31, 2017: Nutrition and Healthy Aging
https://www.readbyqxmd.com/read/28446844/certain-inequalities-involving-the-k-struve-function
#5
Kottakkaran Sooppy Nisar, Saiful Rahman Mondal, Junesang Choi
We aim to introduce a k-Struve function and investigate its various properties, including mainly certain inequalities associated with this function. One of the inequalities given here is pointed out to be related to the so-called classical Turán-type inequality. We also present a differential equation, several recurrence relations, and integral representations for this k-Struve function.
2017: Journal of Inequalities and Applications
https://www.readbyqxmd.com/read/28446242/activity-of-distinct-growth-factor-receptor-network-components-in-breast-tumors-uncovers-two-biologically-relevant-subtypes
#6
Mumtahena Rahman, Shelley M MacNeil, David F Jenkins, Gajendra Shrestha, Sydney R Wyatt, Jasmine A McQuerry, Stephen R Piccolo, Laura M Heiser, Joe W Gray, W Evan Johnson, Andrea H Bild
BACKGROUND: The growth factor receptor network (GFRN) plays a significant role in driving key oncogenic processes. However, assessment of global GFRN activity is challenging due to complex crosstalk among GFRN components, or pathways, and the inability to study complex signaling networks in patient tumors. Here, pathway-specific genomic signatures were used to interrogate GFRN activity in breast tumors and the consequent phenotypic impact of GRFN activity patterns. METHODS: Novel pathway signatures were generated in human primary mammary epithelial cells by overexpressing key genes from GFRN pathways (HER2, IGF1R, AKT1, EGFR, KRAS (G12V), RAF1, BAD)...
April 26, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28441974/evaluating-effectiveness-and-cost-effectiveness-of-a-group-psychological-intervention-using-cognitive-behavioural-strategies-for-women-with-common-mental-disorders-in-conflict-affected-rural-pakistan-study-protocol-for-a-randomised-controlled-trial
#7
Anna Chiumento, Syed Usman Hamdani, Muhammad Naseem Khan, Katie Dawson, Richard A Bryant, Marit Sijbrandij, Huma Nazir, Parveen Akhtar, Aqsa Masood, Duolao Wang, Mark van Ommeren, Atif Rahman
BACKGROUND: The impact of humanitarian disasters upon mental health is well recognised. The evidence for psychological interventions for mental health is mounting, but few interventions have been rigorously tested in humanitarian settings. To be sustainable in humanitarian settings interventions need to be short, simple, deliverable by nonspecialists under supervision, and adopt a transdiagnostic approach where an array of mental health outcomes are addressed simultaneously. These elements have been incorporated into the newly developed WHO Problem Management Plus (PM+) Group intervention...
April 26, 2017: Trials
https://www.readbyqxmd.com/read/28441793/patterns-beliefs-norms-and-perceived-harms-of-hookah-smoking-in-north-iran
#8
Rahman Berdi Ozouni Davaji, Yousef Dadban Shahamat, Farshid Hajili Davaji, Kamal Mirkarimi, Abdurrahman Charkazi, Bagher Pahlavanzadeh, Navisa Sadat Seydghasemi, Gholamreza Sharifirad, Mitra Moodi, Ayoub Elahi
Introduction: Hookah smoking is considered as a public health threat around the globe. The aim of this study was to investigatethe hookah smoking patterns, beliefs, norms and perceived harms in Golestan province of Iran. Methods: A cross-sectional study was conducted on 395 hookah smokers using convenience sampling method in 2015. To collect data, Heinz’s hookah patternwas utilized. Ordinal regression models were used to exploring of covariates related to the odds of life time, last-30-day, and current hookah use...
March 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28440056/counteracting-blueshift-optical-absorption-and-maximizing-photon-harvest-in-carbon-nitride-nanosheets-photocatalyst
#9
Mohammad Rahman, Kenneth Davey, Shi-Zhang Qiao
Blueshift of optical absorption and corresponding widening of the bandgap is a fundamental problem with 2D carbon nitride nanosheets (CNNS). An additional problem is low quantum yields (<9%) due to higher loss of absorbed photons. These problems impose a significant restriction to photocatalytic performance of CNNS. Therefore, the synthesis of narrow bandgap CNNS with high quantum efficiency is of pressing research importance. This contribution reports melem-derived narrow bandgap CNNS with a record-low bandgap of 2...
April 25, 2017: Small
https://www.readbyqxmd.com/read/28439298/multi-drug-resistant-pathogenic-bacteria-in-the-gut-of-young-children-in-bangladesh
#10
Shirajum Monira, Syeda Antara Shabnam, Sk Imran Ali, Abdus Sadique, Fatema-Tuz Johura, Kazi Zillur Rahman, Nur Haque Alam, Haruo Watanabe, Munirul Alam
BACKGROUND: The gut of human harbors diverse commensal microbiota performing an array of beneficial role for the hosts. In the present study, the major commensal gut bacteria isolated by culturing methods from 15 children of moderate income families, aged between 10 and 24 months, were studied for their response to different antibiotics, and the molecular basis of drug resistance. RESULTS: Of 122 bacterial colonies primarily selected from Luria-Bertani agar, bacterial genera confirmed by analytical profile index (API) 20E(®) system included Escherichia as the predominant (52%) organism, followed by Enterobacter (16%), Pseudomonas (12%), Klebsiella (6%), Pantoea (6%), Vibrio (3%), and Citrobacter (3%); while Aeromonas and Raoultella were identified as the infrequently occurring genera...
2017: Gut Pathogens
https://www.readbyqxmd.com/read/28438442/molecular-identification-of-enterocytozoon-bieneusi-and-encephalitozoon-spp-in-immunodeficient-patients-in-ahvaz-southwest-of-iran
#11
Mehdi Tavalla, Masoumeh Mardani-Kateki, Rahman Abdizadeh, Roohangiz Nashibi, Abdollah Rafie, Shahram Khademvatan
Microsporidia are often considered as an opportunistic infection in patients with impaired immune systems such as transplant recipients and patients with acquired immune deficiency syndrome (AIDS). Due to the increasing prevalence of parasitic infections and immunodeficiency diseases; the aim of the study is to evaluate molecular identification of Enterocytozoon bieneusi and Encephalitozoon spp. in immunodeficient patients in Ahvaz, southwest of Iran. At first, 310 stool samples were collected from patients with immunodeficiency...
April 21, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28438163/enhanced-status-of-inflammation-and-endothelial-activation-in-subjects-with-familial-hypercholesterolaemia-and-their-related-unaffected-family-members-a-case-control-study
#12
Thuhairah Rahman, Nur Suhana Hamzan, Atiqah Mokhsin, Radzi Rahmat, Zubin Othman Ibrahim, Rafezah Razali, Malathi Thevarajah, Hapizah Nawawi
BACKGROUND: Familial hypercholesterolaemia (FH) leads to premature coronary artery diseases (CAD) which pathophysiologically can be measured by inflammation, endothelial activation and oxidative stress status. However, the status of these biomarkers among related unaffected relatives of FH cases and whether FH is an independent predictor of these biomarkers have not been well established. Thus, this study aims to (1) compare the biomarkers of inflammation, endothelial activation and oxidative stress between patients with FH, their related unaffected relatives (RUC) and normolipaemic subjects (NC) (2)determine whether FH is an independent predictor of these biomarkers...
April 24, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28436984/genomic-analyses-identify-hundreds-of-variants-associated-with-age-at-menarche-and-support-a-role-for-puberty-timing-in-cancer-risk
#13
Felix R Day, Deborah J Thompson, Hannes Helgason, Daniel I Chasman, Hilary Finucane, Patrick Sulem, Katherine S Ruth, Sean Whalen, Abhishek K Sarkar, Eva Albrecht, Elisabeth Altmaier, Marzyeh Amini, Caterina M Barbieri, Thibaud Boutin, Archie Campbell, Ellen Demerath, Ayush Giri, Chunyan He, Jouke J Hottenga, Robert Karlsson, Ivana Kolcic, Po-Ru Loh, Kathryn L Lunetta, Massimo Mangino, Brumat Marco, George McMahon, Sarah E Medland, Ilja M Nolte, Raymond Noordam, Teresa Nutile, Lavinia Paternoster, Natalia Perjakova, Eleonora Porcu, Lynda M Rose, Katharina E Schraut, Ayellet V Segrè, Albert V Smith, Lisette Stolk, Alexander Teumer, Irene L Andrulis, Stefania Bandinelli, Matthias W Beckmann, Javier Benitez, Sven Bergmann, Murielle Bochud, Eric Boerwinkle, Stig E Bojesen, Manjeet K Bolla, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Linda Broer, Thomas Brüning, Julie E Buring, Harry Campbell, Eulalia Catamo, Stephen Chanock, Georgia Chenevix-Trench, Tanguy Corre, Fergus J Couch, Diana L Cousminer, Angela Cox, Laura Crisponi, Kamila Czene, George Davey Smith, Eco J C N de Geus, Renée de Mutsert, Immaculata De Vivo, Joe Dennis, Peter Devilee, Isabel Dos-Santos-Silva, Alison M Dunning, Johan G Eriksson, Peter A Fasching, Lindsay Fernández-Rhodes, Luigi Ferrucci, Dieter Flesch-Janys, Lude Franke, Marike Gabrielson, Ilaria Gandin, Graham G Giles, Harald Grallert, Daniel F Gudbjartsson, Pascal Guénel, Per Hall, Emily Hallberg, Ute Hamann, Tamara B Harris, Catharina A Hartman, Gerardo Heiss, Maartje J Hooning, John L Hopper, Frank Hu, David J Hunter, M Arfan Ikram, Hae Kyung Im, Marjo-Riitta Järvelin, Peter K Joshi, David Karasik, Manolis Kellis, Zoltan Kutalik, Genevieve LaChance, Diether Lambrechts, Claudia Langenberg, Lenore J Launer, Joop S E Laven, Stefania Lenarduzzi, Jingmei Li, Penelope A Lind, Sara Lindstrom, YongMei Liu, Jian'an Luan, Reedik Mägi, Arto Mannermaa, Hamdi Mbarek, Mark I McCarthy, Christa Meisinger, Thomas Meitinger, Cristina Menni, Andres Metspalu, Kyriaki Michailidou, Lili Milani, Roger L Milne, Grant W Montgomery, Anna M Mulligan, Mike A Nalls, Pau Navarro, Heli Nevanlinna, Dale R Nyholt, Albertine J Oldehinkel, Tracy A O'Mara, Sandosh Padmanabhan, Aarno Palotie, Nancy Pedersen, Annette Peters, Julian Peto, Paul D P Pharoah, Anneli Pouta, Paolo Radice, Iffat Rahman, Susan M Ring, Antonietta Robino, Frits R Rosendaal, Igor Rudan, Rico Rueedi, Daniela Ruggiero, Cinzia F Sala, Marjanka K Schmidt, Robert A Scott, Mitul Shah, Rossella Sorice, Melissa C Southey, Ulla Sovio, Meir Stampfer, Maristella Steri, Konstantin Strauch, Toshiko Tanaka, Emmi Tikkanen, Nicholas J Timpson, Michela Traglia, Thérèse Truong, Jonathan P Tyrer, André G Uitterlinden, Digna R Velez Edwards, Veronique Vitart, Uwe Völker, Peter Vollenweider, Qin Wang, Elisabeth Widen, Ko Willems van Dijk, Gonneke Willemsen, Robert Winqvist, Bruce H R Wolffenbuttel, Jing Hua Zhao, Magdalena Zoledziewska, Marek Zygmunt, Behrooz Z Alizadeh, Dorret I Boomsma, Marina Ciullo, Francesco Cucca, Tõnu Esko, Nora Franceschini, Christian Gieger, Vilmundur Gudnason, Caroline Hayward, Peter Kraft, Debbie A Lawlor, Patrik K E Magnusson, Nicholas G Martin, Dennis O Mook-Kanamori, Ellen A Nohr, Ozren Polasek, David Porteous, Alkes L Price, Paul M Ridker, Harold Snieder, Tim D Spector, Doris Stöckl, Daniela Toniolo, Sheila Ulivi, Jenny A Visser, Henry Völzke, Nicholas J Wareham, James F Wilson, Amanda B Spurdle, Unnur Thorsteindottir, Katherine S Pollard, Douglas F Easton, Joyce Y Tung, Jenny Chang-Claude, David Hinds, Anna Murray, Joanne M Murabito, Kari Stefansson, Ken K Ong, John R B Perry
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to ∼370,000 women, we identify 389 independent signals (P < 5 × 10(-8)) for age at menarche, a milestone in female pubertal development. In Icelandic data, these signals explain ∼7.4% of the population variance in age at menarche, corresponding to ∼25% of the estimated heritability. We implicate ∼250 genes via coding variation or associated expression, demonstrating significant enrichment in neural tissues...
April 24, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28436038/direct-current-stimulation-boosts-synaptic-gain-and-cooperativity-in-vitro
#14
Asif Rahman, Belen Lafon, Lucas C Parra, Marom Bikson
KEY POINTS: Direct current stimulation (DCS) polarity specifically modulates synaptic efficacy during a continuous train of presynaptic inputs, despite synaptic depression. DCS polarizes afferent axons and postsynaptic neurons, boosting cooperativity between synaptic inputs. Polarization of afferent neurons in upstream brain regions may modulate activity in the target brain region during transcranial DCS (tDCS). A statistical theory of coincident activity predicts that the diffuse and weak profile of current flow can be advantageous in enhancing connectivity between co-active brain regions...
April 23, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28435432/foundation-and-methodologies-in-computer-aided-diagnosis-systems-for-breast-cancer-detection
#15
REVIEW
Afsaneh Jalalian, Syamsiah Mashohor, Rozi Mahmud, Babak Karasfi, M Iqbal B Saripan, Abdul Rahman B Ramli
Breast cancer is the most prevalent cancer that affects women all over the world. Early detection and treatment of breast cancer could decline the mortality rate. Some issues such as technical reasons, which related to imaging quality and human error, increase misdiagnosis of breast cancer by radiologists. Computer-aided detection systems (CADs) are developed to overcome these restrictions and have been studied in many imaging modalities for breast cancer detection in recent years. The CAD systems improve radiologists' performance in finding and discriminating between the normal and abnormal tissues...
2017: EXCLI journal
https://www.readbyqxmd.com/read/28434246/sociodemographic-determinants-of-low-fruit-and-vegetable-consumption-among-bangladeshi-adults-results-from-who-steps-survey-2010
#16
Md Nazmul Karim, M Mostafa Zaman, Md Mujibur Rahman, M A Jalil Chowdhury, H A M Nazmul Ahsan, Md Mahtabuddin Hassan, Syed Rezaul Karim, Md Zakir Hossain, Baki Billah
This study aimed to investigate factors affecting fruit and vegetables (FAVs) intake among Bangladeshi adults. Dietary data of 9275 adults from the Bangladesh Noncommunicable Disease Risk Factor Survey 2010 were analyzed. The mean age of the respondents was 42.4 (±13.5) years. Multistage cluster sampling was applied to identify samples. Demographics, personal habits, physical activity, diet, and anthropometric data were collected using the WHO-STEPs questionnaire. Average daily intake of <5 servings of FAVs combined was considered to be low FAV consumption, and its prevalence was 82...
April 2017: Asia-Pacific Journal of Public Health
https://www.readbyqxmd.com/read/28433551/in-vitro-investigation-of-metabolic-profiling-of-newly-developed-topoisomerase-inhibitors-ethyl-fluorescein-hydrazones-etflhs-in-rlms-by-lc-ms-ms
#17
Adnan A Kadi, Nasser S Al-Shakliah, Wencui Yin, A F M Motiur Rahman
Metabolic profiling of newly reported five topoisomerase inhibitors namely ethyl fluorescein hydrazones (EtFLHs) were studied in rat liver microsomes (RLMs) and the data were acquired in a liquid chromatography (LC) ion trap mass spectrometry. Hydroxyl group containing EtFLHs derivatives (1-3) were bio-transformed into hydrolyzed, mono-hydroxylated and hydrolyzed together with mono-hydroxylated metabolites. On the other hand, nitro and methoxy groups containing EtFLHs derivatives (4-5) were bio-transformed into hydrolyzed, hydrolyzed together with mono-hydroxylated and azo-reductive metabolites in the presence of NADPH...
April 6, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28432953/new-and-practical-mathematical-model-of-membrane-fouling-in-an-aerobic-submerged-membrane-bioreactor
#18
Mst Fazana Rahman Zuthi, Wenshan Guo, Huu Hao Ngo, Duc Long Nghiem, Faisal I Hai, Siqing Xia, Jianxin Li, Jixiang Li, Yi Liu
This study aimed to develop a practical semi-empirical mathematical model of membrane fouling that accounts for cake formation on the membrane and its pore blocking as the major processes of membrane fouling. In the developed model, the concentration of mixed liquor suspended solid is used as a lumped parameter to describe the formation of cake layer including the biofilm. The new model considers the combined effect of aeration and backwash on the foulants' detachment from the membrane. New exponential coefficients are also included in the model to describe the exponential increase of transmembrane pressure that typically occurs after the initial stage of an MBR operation...
April 4, 2017: Bioresource Technology
https://www.readbyqxmd.com/read/28432888/removal-of-arsenate-and-dichromate-ions-from-different-aqueous-media-by-amine-based-p-taea-co-gde-microgels
#19
Saif Ur Rehman, Abdur Rahman Khan, Mehtap Sahiner, Sultan B Sengel, Nahit Aktas, Muhammad Siddiq, Nurettin Sahiner
In this work, microgels based on tris(2-aminoethyl) amine (TAEA) and glycerol diglycidyl ether (GDE) via simple microemulsion polymerization was prepared as p(TAEA-co-GDE) microgels were used as adsorbent for removal of dichromate (Cr (VI)) and arsenate (As (V)) ions from different aqueous environments. The p(TAEA-co-GDE) microgels were demonstrated very efficient adsorption capacity for Cr (VI), and As (V) that are 164.98 mg/g, and 123.64 mg/g from distilled (DI) water, respectively. The effect of the medium pH on the adsorption capacity of p(TAEA-co-GDE) microgels for Cr (VI) and As (V) ions were investigated...
April 19, 2017: Journal of Environmental Management
https://www.readbyqxmd.com/read/28432724/fluorescent-aerolysin-flaer-based-paroxysmal-nocturnal-hemoglobinuria-pnh-screening-a-single-center-experience-from-india
#20
K Rahman, R Gupta, G Yadav, N Husein, M K Singh, S Nityanand
BACKGROUND: Fluorescent aerolysin (FLAER) has been recommended as an important part of antibody panel used for flow cytometric detection of paroxysmal nocturnal hemoglobinuria (PNH) clone. This study was aimed to observe the frequency of PNH-positive clones and their sizes in patients screened for various indications. METHOD: A retrospective analysis of 624 patients screened over a period of 30 months. Frequency and size of clone sizes noted, and laboratory parameters were compared among different groups of patient being screened...
April 22, 2017: International Journal of Laboratory Hematology
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