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https://www.readbyqxmd.com/read/29351777/are-minor-alleles-more-likely-to-be-risk-alleles
#1
Takashi Kido, Weronika Sikora-Wohlfeld, Minae Kawashima, Shinichi Kikuchi, Naoyuki Kamatani, Anil Patwardhan, Richard Chen, Marina Sirota, Keiichi Kodama, Dexter Hadley, Atul J Butte
BACKGROUND: Genome-wide association studies (GWASs) have revealed relationships between over 57,000 genetic variants and diseases. However, unlike Mendelian diseases, complex diseases arise from the interplay of multiple genetic and environmental factors. Natural selection has led to a high tendency of risk alleles to be enriched in minor alleles in Mendelian diseases. Therefore, an allele that was previously advantageous or neutral may later become harmful, making it a risk allele. METHODS: Using data in the NHGRI-EBI Catalog and the VARIMED database, we investigated whether (1) GWASs more easily detect risk alleles and (2) facilitate evolutionary insights by comparing risk allele frequencies of different diseases...
January 19, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29351260/fatty-acid-based-microemulsions-to-combat-ophthalmia-neonatorum-caused-by-neisseria-gonorrhoeae-and-staphylococcus-aureus
#2
Ummara Butt, Amr ElShaer, Lori A S Snyder, Ali A Al-Kinani, Adam Le Gresley, Raid G Alany
The bacterial species Neisseria gonorrhoeae (N. gonorrhoeae) and Staphylococcus aureus (S. aureus) are amongst the main microorganisms that cause ophthalmia neonatorum. The current treatment involves the use of various antibiotics such as ciprofloxacin, cephalosporin, ceftriaxone and cefotaxime. However, this treatment strategy is becoming more ineffective due to the antibiotic resistance in N. gonorrhoeae. The current study explores the potential use of fatty acid based microemulsions (ME) to prevent N. gonorrhoeae and S...
January 19, 2018: Nanomaterials
https://www.readbyqxmd.com/read/29347863/an-intervention-to-improve-physical-function-and-caregiver-perceptions-in-family-caregivers-of-persons-with-heart-failure
#3
Rebecca Gary, Sandra B Dunbar, Melinda Higgins, Brittany Butts, Elizabeth Corwin, Kenneth Hepburn, Javed Butler, Andrew H Miller
OBJECTIVE: This randomized controlled trial was conducted to determine whether a 12-week home-based aerobic and resistance exercise program would improve physical function and caregiving perceptions among family caregivers (FCGs) of persons with heart failure. METHOD: Overall, 127 FCGs were randomized to one of three groups: usual care attention control (UCAC), psychoeducation only (PE), and psychoeducation plus exercise (PE + EX). Physical function measures (6-min walk test, handgrip, and upper and lower strength) and caregiving perceptions (Bakas Caregiving Outcomes Scale) were obtained at baseline and at 6 months...
January 1, 2018: Journal of Applied Gerontology: the Official Journal of the Southern Gerontological Society
https://www.readbyqxmd.com/read/29346634/are-people-getting-quality-thalassemia-care-in-twin-cities-of-pakistan-a-comparison-with-international-standards
#4
Tehreem Tanveer, Haleema Masud, Zahid Ahmed Butt
Objectives: This study was conducted to determine if thalassemia patients were getting quality care in Rawalpindi and Islamabad, Pakistan, as per international standards and to identify determinants for better quality of thalassemia care. Design: A cross sectional study was conducted using interview based structured questionnaire, which was developed using standards of thalassemia care used by International Thalassemia Foundation. Setting: Five healthcare facilities catering to the needs of thalassemia patients in Rawalpindi and Islamabad, Pakistan...
January 16, 2018: International Journal for Quality in Health Care
https://www.readbyqxmd.com/read/29344940/obstetric-and-neonatal-outcomes-for-women-intending-to-use-immersion-in-water-for-labour-and-birth-in-western-australia-2015-2016-a-retrospective-audit-of-clinical-outcomes
#5
Lucy Lewis, Yvonne L Hauck, Janice Butt, Janet Hornbuckle
BACKGROUND: Research supports water immersion for labour if women are healthy, with no obstetric or medical risk factors. AIMS: To evaluate the obstetric and neonatal outcomes of women intending to use immersion in water for labour or birth. METHODS: Retrospective audit of clinical outcomes for women intending to labour or birth in water conducted between July 2015 and June 2016, at a tertiary maternity hospital in Western Australia. Obstetric and neonatal data were collected from medical records...
January 17, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/29333761/simulated-patients-uncovered
#6
Mohsin F Butt
No abstract text is available yet for this article.
February 2018: Clinical Teacher
https://www.readbyqxmd.com/read/29331935/disruption-of-thyroid-hormone-sulfotransferase-activity-by-brominated-flame-retardant-chemicals-in-the-human-choriocarcinoma-placenta-cell-line-bewo
#7
Christopher P Leonetti, Craig M Butt, Heather M Stapleton
Brominated flame retardants (BFRs) have been shown to disrupt thyroid hormone (TH) homeostasis through multiple mechanisms, including inhibition of enzymes that regulate intracellular levels of THs, such as sulfotransferases (SULTs). The placenta plays a critical role in helping to maintain TH levels during fetal development and expresses SULTs. This is concerning given that disruption of TH regulation within the placenta could potentially harm the developing fetus. In this study, we investigated the effects of two polybrominated diphenyl ethers (PBDEs), two hydroxylated PBDEs, and 2,4,6-tribromophenol (2,4,6-TBP) on TH SULT activity in a choriocarcinoma placenta cell line (BeWo)...
December 28, 2017: Chemosphere
https://www.readbyqxmd.com/read/29331010/implants-for-extracapsular-neck-of-femur-fracture-dynamic-hip-screw-versus-intramedullary-nailing
#8
Faisal Farooq Butt, Adnan Shabbair Hussain, Ahmed Mushtaq Khan, Maria Sultan
Neck of femur fractures are the most prevalent type of injury in elderly trauma patients. Both intra and extra capsular type of fractures are equally distributed in the given population. Traditionally, Extra capsular fractures are fixed with Dynamic Hip screw or Intra medullary nailing based on the type of fracture. NICE (National Institute of Clinical Excellence) recommends fixing 31-A1 and 31-A2 fractures with DHS (Dynamic Hip Screw) whereas AO recommends fixing 31-A1 with DHS and 31-A2.1 subtype with DHS and 31-A2...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29331007/anaesthetic-management-of-nesidioblastosis-in-two-infants
#9
Muhammad Saad Yousuf, Mohsin Nazir Butt, Fauzia Anis Khan
Nesidioblastosis is the most common cause of non-transient, recurrent and persistent hypoglycaemia in neonates and infants. It is a disorder of diffuse proliferation of beta cells of the pancreas leading to hyperinsulinemia and hypoglycaemia. The main aim is to prevent the severe episodes of hypoglycaemia which can cause damage to the brain and/or mental retardation. In this case report we present two cases of nesidioblastosis and their perioperative anaesthetic course for near-total pancreatectomy. First case was a 7 months old female who had repeated episodes of convulsions since birth...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29331006/outbreak-of-extensively-drug-resistant-stenotrophomonas-maltophilia-in-burn-unit
#10
Usman Ali, Shahid Ahmad Abbasi, Fatima Kaleem, Irum Aftab, Tariq Butt
Stenotrophomonas maltophiliais an emerging cause of nosocomial infections. We report an outbreak of XDR-Stenotrophomonas maltophilia infection from burn unit of a tertiary care hospital in July 2016. The strain isolated was resistant to all antimicrobials tested but colistin. Outbreak investigation was carried out which subsided after timely intervention. Patients were treated adequately by Colistin.
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29330990/association-of-quality-of-sleep-with-cognitive-decline-among-the-patients-of-chronic-kidney-disease-undergoing-haemodialysis
#11
Usama Bin Zubair, Batool Butt
BACKGROUND: This study was conducted to determine the association between the subjective quality of sleep and cognitive decline among the patients of chronic kidney disease (CKD) undergoing haemodialysis. METHODS: In this cross-sectional study 106 patients of chronic kidney disease (CKD) undergoing haemodialysis at a tertiary care hospital in Rawalpindi, Pakistan were included in the final analysis. Cognitive decline was measured by British Columbia Cognitive Complaints Inventory (BC-CCI)...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29330976/ranitidine-can-potentiate-the-prokinetic-effect-of-itopride-at-low-doses-an-in-vitro-study
#12
Aroosa Ishtiaq Butt, Bushra Tayyaba Khan, Asma Khan, Qamar-Uz-Zaman Khan
BACKGROUND: Gastroparesis and GERD occur concomitantly in 40 percent of the cases. Prokinetic drugs and acid blockers are employed as the main treatment modality. Ranitidine is an acid blocker with additional prokinetic activity and Itopride is a known prokinetic drug. This study was designed to observe the synergistic potentiating prokinetic effect of Ranitidine on itopride on isolated duodenum of rabbits. METHODS: Ranitidine (10-5-10-3) and itopride (10-6-10-5) were added in increasing concentrations to isolated duodenum of rabbits and contractions were recorded on PowerLab Data acquisition unit AHK/214...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29329546/whole-genome-sequencing-of-genotype-vi-newcastle-disease-viruses-from-formalin-fixed-paraffin-embedded-tissues-from-wild-pigeons-reveals-continuous-evolution-and-previously-unrecognized-genetic-diversity-in-the-u-s
#13
Ying He, Tonya L Taylor, Kiril M Dimitrov, Salman L Butt, James B Stanton, Iryna V Goraichuk, Heather Fenton, Rebecca Poulson, Jian Zhang, Corrie C Brown, Hon S Ip, Marcos Isidoro-Ayza, Claudio L Afonso
BACKGROUND: Newcastle disease viruses (NDV) are highly contagious and cause disease in both wild birds and poultry. A pigeon-adapted variant of genotype VI NDV, often termed pigeon paramyxovirus 1, is commonly isolated from columbids in the United States and worldwide. Complete genomic characterization of these genotype VI viruses circulating in wild columbids in the United States is limited, and due to the genetic variability of the virus, failure of rapid diagnostic detection has been reported...
January 12, 2018: Virology Journal
https://www.readbyqxmd.com/read/29318484/the-exposure-to-water-with-cigarette-residue-changes-the-anti-predator-response-in-female-swiss-albino-mice
#14
Letícia Silva Cardoso, Fernanda Neves Estrela, Thales Quintão Chagas, Wellington Alves Mizael da Silva, Denys Ribeiro de Oliveira Costa, Igor Pereira, Boniek Gontijo Vaz, Aline Sueli de Lima Rodrigues, Guilherme Malafaia
Recent studies have shown that cigarette consumption affects much more than human health. Smoked cigarette butt (SCB) disposal into the environment can bring little-known negative biological consequences to mammals, since it contains many organic and inorganic toxic chemical constituents. Thus, we aim at assessing whether the ingestion of water with leached SCB for 60 days by female Swiss mice changes their defensive behavioral response to potential predators (cats and snakes). We worked with the following groups of animals: control (pollutant-free water), water with environmental concentration of SCB (1...
January 9, 2018: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29317955/pattern-of-thyroid-lesions-in-western-region-of-saudi-arabia-a-retrospective-analysis-and-literature-review
#15
Muhammad I Saeed, Amal Ali Hassan, Muhammad Ejaz Butt, Khalid Ali Baniyaseen, Muhammad I Siddiqui, Neda M Bogari, Faisal A Al-Allaf, Mohiuddin M Taher
Background: Ultrasonography (US) is being recognized as a traditional way of the diagnosis of various thyroid disorders, and this will help in detecting the thyroid tumors in early stage. Thyroid nodules are common and usually benign; steps to diagnose malignancy should include a careful clinical evaluation, laboratory tests, a thyroid US exam and a fine-needle aspiration (FNA) biopsy. Methods: A total of 173 registered cases were used for analysis in this study...
February 2018: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29317701/a-genome-wide-association-study-identifies-only-two-ancestry-specific-variants-associated-with-spontaneous-preterm-birth
#16
Nadav Rappoport, Jonathan Toung, Dexter Hadley, Ronald J Wong, Kazumichi Fujioka, Jason Reuter, Charles W Abbott, Sam Oh, Donglei Hu, Celeste Eng, Scott Huntsman, Dale L Bodian, John E Niederhuber, Xiumei Hong, Ge Zhang, Weronika Sikora-Wohfeld, Christopher R Gignoux, Hui Wang, John Oehlert, Laura L Jelliffe-Pawlowski, Jeffrey B Gould, Gary L Darmstadt, Xiaobin Wang, Carlos D Bustamante, Michael P Snyder, Elad Ziv, Nikolaos A Patsopoulos, Louis J Muglia, Esteban Burchard, Gary M Shaw, Hugh M O'Brodovich, David K Stevenson, Atul J Butte, Marina Sirota
Preterm birth (PTB), or the delivery prior to 37 weeks of gestation, is a significant cause of infant morbidity and mortality. Although twin studies estimate that maternal genetic contributions account for approximately 30% of the incidence of PTB, and other studies reported fetal gene polymorphism association, to date no consistent associations have been identified. In this study, we performed the largest reported genome-wide association study analysis on 1,349 cases of PTB and 12,595 ancestry-matched controls from the focusing on genomic fetal signals...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29315824/cytokine-secreting-microparticles-engineer-the-fate-and-the-effector-functions-of-t-cells
#17
Fatemeh S Majedi, Mohammad Mahdi Hasani-Sadrabadi, Yoko Kidani, Timothy J Thauland, Alireza Moshaverinia, Manish J Butte, Steven J Bensinger, Louis-S Bouchard
T-cell immunotherapy is a promising approach for cancer, infection, and autoimmune diseases. However, significant challenges hamper its therapeutic potential, including insufficient activation, delivery, and clonal expansion of T-cells into the tumor environment. To facilitate T-cell activation and differentiation in vitro, core-shell microparticles are developed for sustained delivery of cytokines. These particles are enriched by heparin to enable a steady release of interleukin-2 (IL-2), the major T-cell growth factor, over 10+ d...
January 8, 2018: Advanced Materials
https://www.readbyqxmd.com/read/29311637/loss-of-function-mutations-in-adcy3-cause-monogenic-severe-obesity
#18
Sadia Saeed, Amélie Bonnefond, Filippo Tamanini, Muhammad Usman Mirza, Jaida Manzoor, Qasim M Janjua, Sadia M Din, Julien Gaitan, Alexandra Milochau, Emmanuelle Durand, Emmanuel Vaillant, Attiya Haseeb, Franck De Graeve, Iandry Rabearivelo, Olivier Sand, Gurvan Queniat, Raphaël Boutry, Dina A Schott, Hina Ayesha, Muhammad Ali, Waqas I Khan, Taeed A Butt, Tuula Rinne, Connie Stumpel, Amar Abderrahmani, Jochen Lang, Muhammad Arslan, Philippe Froguel
Study of monogenic forms of obesity has demonstrated the pivotal role of the central leptin-melanocortin pathway in controlling energy balance, appetite and body weight 1 . The majority of loss-of-function mutations (mostly recessive or co-dominant) have been identified in genes that are directly involved in leptin-melanocortin signaling. These genes, however, only explain obesity in <5% of cases, predominantly from outbred populations 2 . We previously showed that, in a consanguineous population in Pakistan, recessive mutations in known obesity-related genes explain ~30% of cases with severe obesity3-5...
January 8, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29308195/optical-glucose-sensors-based-on-hexagonally-packed-2-5-dimensional-photonic-concavities-imprinted-in-phenylboronic-acid-functionalized-hydrogel-films
#19
Magdalena Bajgrowicz-Cieslak, Yousef Alqurashi, Mohamed Ismail Elshereif, Ali K Yetisen, Muhammad Umair Hassan, Haider Butt
Continuous glucose monitoring aims to achieve accurate control of blood glucose concentration to prevent hypo/hyperglycaemia in diabetic patients. Hydrogel-based systems have emerged as a reusable sensing platform to quantify biomarkers in high-risk patients at clinical and point-of-care settings. The capability to integrate hydrogel-based systems with optical transducers will provide quantitative and colorimetric measurements via spectrophotometric analyses of biomarkers. Here, we created an imprinting method to rapidly produce 2...
November 25, 2017: RSC Advances
https://www.readbyqxmd.com/read/29308176/perhydrohelicenes-and-other-diamond-lattice-based-hydrocarbons-the-choreography-of-inversion
#20
Roger W Alder, Craig P Butts, Richard B Sessions
Overall inversion in fused cyclohexane oligomers 2, 3, and 4 (all based on cis-decalin 1) occurs by a rolling process involving no more than two adjacent rings in twist-boat conformations at any time. These inverting rings move along the oligomer in processes that are precisely choreographed by the adjacent chairs. Actual inversion mechanisms can be stepwise [CC → TC → TT → C'T → C'C'], as for cis-decalin, but it is shown that a concerted alternative [CC → TC → C'T → C'C'] is enforced in 2. The all-cis,anti,cis-isomers of perhydrohelicenes 4 are based on the diamond lattice and have remarkably low strain energies...
September 1, 2017: Chemical Science
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