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https://www.readbyqxmd.com/read/29452392/pbrit-gene-prioritization-by-correlating-functional-and-phenotypic-annotations-through-integrative-data-fusion
#1
Ajay Anand Kumar, Lut Van Laer, Maaike Alaerts, Amin Ardeshirdavani, Yves Moreau, Kris Laukens, Bart Loeys, Geert Vandeweyer, Inanc Birol
Motivation: Computational gene prioritization can aid in disease gene identification. Here, we propose pBRIT (prioritization using Bayesian Ridge regression and Information Theoretic model), a novel adaptive and scalable prioritization tool, integrating Pubmed abstracts, Gene Ontology, Sequence similarities, Mammalian and Human Phenotype Ontology, Pathway, Interactions, Disease Ontology, Gene Association database and Human Genome Epidemiology database, into the prediction model.We explore and address effects of sparsity and inter-feature dependencies within annotation sources, and the impact of bias towards specific annotations...
February 14, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29452336/invited-commentary-male-reproductive-system-congenital-malformations-and-the-risk-of-autism-spectrum-disorder
#2
Laura A Schieve, Stuart K Shapira
Autism spectrum disorder (ASD) is a prevalent developmental disorder. Studies indicate that while ASD etiology has a genetic component, the risk is polygenic, with gene-environment interactions being likely. The prenatal period is a critical exposure window for nongenetic risk factors. Previous studies have found positive associations between congenital malformations (all types) and ASD; a few also found specific associations between genitourinary system malformations and ASD; and one study found an association between hypospadias and ASD...
February 14, 2018: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29451913/identification-of-the-s-transferase-like-superfamily-bacillithiol-transferases-encoded-by-bacillus-subtilis
#3
Varahenage R Perera, John D Lapek, Gerald L Newton, David J Gonzalez, Kit Pogliano
Bacillithiol is a low molecular weight thiol found in Firmicutes that is analogous to glutathione, which is absent in these bacteria. Bacillithiol transferases catalyze the transfer of bacillithiol to various substrates. The S-transferase-like (STL) superfamily contains over 30,000 putative members, including bacillithiol transferases. Proteins in this family are extremely divergent and are related by structural rather than sequence similarity, leaving it unclear if all share the same biochemical activity. Bacillus subtilis encodes eight predicted STL superfamily members, only one of which has been shown to be a bacillithiol transferase...
2018: PloS One
https://www.readbyqxmd.com/read/29451866/high-mobility-in-0-75-ga-0-25-as-quantum-wells-in-an-inas-phonon-lattice
#4
C Chen, S N Holmes, I Farrer, H E Beere, D A Ritchie
InGaAs based devices are great complements to silicon for CMOS, as they provide an increased carrier saturation velocity, lower operating voltage and reduced power dissipation (International technology roadmap for semiconductors (www.itrs2.net)). In this work we show that In 0.75 Ga 0.25 As quantum wells with a high mobility, 15 000 to 20 000 cm 2 V -1 s -1 at ambient temperature, show an InAs-like phonon with an energy of 28.8 meV, frequency of 232 cm -1 that dominates the polar-optical mode scattering from ∼70 K to 300 K...
February 16, 2018: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/29451852/delta-opioids-neuroprotective-roles-in-preclinical-studies
#5
Shahid Husain
Since ancient times, opioids have been used clinically and abused recreationally. In the early stages (about 1,000 AD) of opium history, an Arab physician, Avicenna, administered opioids to control diarrhea and eye diseases. 1 Opioids have very strong pain relieving properties and they also regulate numerous cellular responses. Opioid receptors are expressed throughout the body, including the nervous system, heart, lungs, liver, gastrointestinal tract, and retina. 2-6 Delta opioid receptors (DORs) are a very attractive target from the perspective of both receptor function and their therapeutic potential...
January 2018: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29451834/influenza-vaccination-2014-2015-results-of-a-survey-conducted-among-general-practitioners-in-italy
#6
Miriam Levi, Paolo Bonanni, Marco Biffino, Michele Conversano, Maria Corongiu, Paolo Morato, Tommasa Maio
Introduction The aim of the present study was to evaluate orientation, organizational procedures implemented and difficulties faced by general practitioners (GPs) during the 2014/15 seasonal influenza vaccination programme, as well as GPs' general attitude towards vaccinations. Methods An ad hoc online survey was developed and administered to general practitioners members of the Italian Federation of GPs (Federazione Italiana Medici di Medicina Generale - FIMMG). Overall, 10,000 survey invitations were sent...
February 16, 2018: Human Vaccines & Immunotherapeutics
https://www.readbyqxmd.com/read/29451772/ultra-flexible-and-high-performance-multilayer-transparent-electrode-based-on-zno-ag-cuscn
#7
Yixiong Ji, Jun Yang, Wei Luo, Linlong Tang, Xiangxing Bai, Chongqian Leng, Chaoyan Ma, Xingzhan Wei, Jing Wang, Jun Shen, Shirong Lu, Kuan Sun, Haofei Shi
Driven by huge demand for flexible opto-electronic devices, high-performance flexible transparent electrodes are continuously sought. In this work, a flexible multilayer transparent electrode with structure of ZnO/Ag/CuSCN (ZAC) is engineered, featuring inorganic solution-processed cuprous thiocyanate (CuSCN) as a hole-transport antireflection coating. The ZAC electrode exhibits an average transmittance of 94% (discounting the substrate) in the visible range, a sheet resistance (Rsh) of 9.7 Ω/sq, a high mechanical flexibility without Rsh variation after bending 10,000 times, a long-term stability of 400 days in ambient environment and scalable fabrication process...
February 16, 2018: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/29451689/barriers-to-accessing-palliative-care-for-pediatric-patients-with-cancer-a-review-of-the-literature
#8
REVIEW
Emily R Haines, A Corey Frost, Heather L Kane, Franziska S Rokoske
Although many of the 16,000 children in the United States diagnosed who are with cancer each year could benefit from pediatric palliative care, these services remain underused. Evidence regarding the barriers impeding access to comprehensive palliative care is dispersed in the literature, and evidence specific to pediatric oncology remains particularly sparse. The purpose of the current review was to synthesize the existing literature regarding these barriers and the strategies offered to address them. The authors completed a literature search using the PubMed, Cumulative Index to Nursing and Allied Health Literature (CINAHL), and Web of Science databases...
February 16, 2018: Cancer
https://www.readbyqxmd.com/read/29451517/-burden-of-diverticular-disease-an-observational-analysis-based-on-italian-real-world-data
#9
Francesco Saverio Mennini, Paolo Sciattella, Andrea Marcellusi, Bernardo Toraldo, Maurizio Koch
INTRODUCTION: Diverticular disease (DD) represent a wide variety of conditions associated with the presence of diverticula in the colon. The most serious form is an acute episode of diverticulitis which can lead to hospitalization and surgery with various types of consequences. The main aim of this study was to evaluate, from both cross-sectional and longitudinal perspective, the economic burden of diverticulitis in the real practice. METHOD: A deterministic linkage was performed at individual user level between the different administrative sources of the Marche Region through anonymised ID number for a period of analysis between 1 January 2008 and 31 December 2014...
January 2018: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/29451472/hepcidin-and-proinflammatory-markers-in-children-with-chronic-kidney-disease-a-case-control-study
#10
Kamal Kumar Goyal, Abhijeet Saha, Puneet Kaur Sahi, Manpreet Kaur, Nand Kishore Dubey, Parul Goyal, Ashish Dutt Upadhayay
BACKGROUND: Hepcidin is the main regulator of hepcidin-ferroportin axis and is elevated in children with chronic kidney disease (CKD). Anemia of CKD and its relation to hepcidin, interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), and high-sensitivity C-reactive protein (hs-CRP) in iron- and erythropoietin (EPO)-naïve, non-dialyzed children with CKD is under-studied. MATERIALS AND METHODS: This case-control study aimed to study the levels of hepcidin and other proinflammatory markers (IL-6, TNF-α, hs-CRP) and their relation with anemia in iron- and erythropoietin-naïve, non-dialysis CKD (stage 3 - 5) patients...
February 16, 2018: Clinical Nephrology
https://www.readbyqxmd.com/read/29451432/diagnosing-isolated-hepatosplenic-tuberculosis-in-an-immunocompetent-patient-a-case-report
#11
Om Dawani, Raja Samir Khan, Mujtaba Jamal Syed, Abdul Moid Shehzad, Ahmed Alratoot, Muhammad Faizan Ahmed
For many years, tuberculosis (TB) has been endemic in Pakistan; many rare and unusual presentations have been reported. There is a myriad of non-specific symptoms which always requires a high index of clinical suspicion for TB. World Health Organization data suggest that Pakistan ranks as the fifth highest country burdened with TB and has the fourth highest prevalence of multi-drug resistant TB globally. With an annual incidence of 277 cases per 100,000, the importance of early diagnosis and treatment is self-evident...
January 1, 2018: Tropical Doctor
https://www.readbyqxmd.com/read/29451350/an-economic-assessment-of-contemporary-kidney-transplant-practice
#12
David Axelrod, Mark A Schnitzler, Huiling Xiao, William Irish, Elizabeth Tuttle-Newhall, Su-Hsin Chang, Bertram L Kasiske, Tarek Alhamad, Krista L Lentine
Kidney transplant is the optimal therapy for end stage renal disease, prolonging survival and reducing healthcare spending. Prior economic analyses of kidney transplant using Markov models, have generally assumed compatible, low risk, donors. The economic implications of using deceased donor kidneys with high kidney donor profile index (KPDI) scores, ABO incompatible or HLA incompatible living donors has not been assessed. The costs of transplant and dialysis were compared using discrete event simulation over a 10-year period, using data from the United States Renal Data System, Vizient ™ (Irving, Texas), and literature review...
February 16, 2018: American Journal of Transplantation
https://www.readbyqxmd.com/read/29451309/antibodies-to-human-neutrophil-antigen-hna-3b-implicated-in-cases-of-neonatal-alloimmune-neutropenia
#13
Larissa Barbosa Lopes, Samira Ali Abbas, Elyse Moritz, Juliana Oliveira Martins, Akemi Kuroda Chiba, Dante Mário Langhi, José O Bordin
BACKGROUND: Neonatal alloimmune neutropenia results from maternal alloimmunization to human neutrophil antigens. The alloantibodies involved in neonatal alloimmune neutropenia are against human neutrophil antigens HNA-1a, HNA-1b, HNA-1c, HNA-1d, HNA-2, HNA-3a, HNA-4a, HNA-4b, and HNA-5a; however, to date, antibodies specific to HNA-3b have not been reported. STUDY DESIGN AND METHODS: Blood samples from 10,000 unselected neonates were analyzed, resulting in the selection of 88 neutropenic newborns (neutrophil count <1...
February 16, 2018: Transfusion
https://www.readbyqxmd.com/read/29451278/united-european-gastroenterology-week-uegw-2017-25th-annual-conference-october-28-november-1-2017-barcelona-spain
#14
E Torramadé
The 25th United European Gastroenterology Week (UEGW), the largest European conference centered on diseases of the stomach, bowel, esophagus, liver, pancreas and gallbladder, was held in Barcelona, Spain. This 5-day meeting attracted over 13,000 delegates to share recent research in the treatment of gastrointestinal and liver diseases. The conference provided teaching material, workshops and live sessions to all the attendants. The reports will cover the latest research into treatments for these diseases.
November 2017: Drugs of Today
https://www.readbyqxmd.com/read/29451274/helicase-primase-inhibitor-amenamevir-for-herpesvirus-infection-towards-practical-application-for-treating-herpes-zoster
#15
K Shiraki
Valacyclovir and famciclovir enabled successful systemic therapy for treating herpes simplex virus (HSV) and varicella zoster virus (VZV) infection by their phosphorylation with viral thymidine kinase. Helicase-primase inhibitors (HPIs) inhibit the progression of the replication fork, an initial step in DNA synthesis to separate the double strand into two single strands. The HPIs amenamevir and pritelivir have a novel mechanism of action, once-daily administration with nonrenal excretory characteristics, and clinical efficacy for genital herpes...
November 2017: Drugs of Today
https://www.readbyqxmd.com/read/29451189/elimination-of-leprosy-in-india-an-analysis
#16
REVIEW
Utpal Sengupta
India attained the elimination figure of less than 1 case of leprosy per 10,000 people during December 2005. Despite this, India still accounts for the largest number of new leprosy cases in the world, maintaining more than 50 per cent of the leprosy burden of the world, notwithstanding over three decades of use of multidrug therapy. The present review analyzes the process of execution of the elimination program, identifies any lacunae therein and presents corrective measures that could be taken up for elimination of the disease from the country...
2018: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/29451181/the-use-of-nonselective-beta-blockers-is-a-risk-factor-for-portal-vein-thrombosis-in-cirrhotic-patients
#17
Rosa Zampino, Rita Lebano, Nicola Coppola, Margherita Macera, Anna Grandone, Luca Rinaldi, Ilario De Sio, Antonella Tufano, Gianfranca Stornaiuolo, Luigi E Adinolfi, Emanuele Durante-Mangoni, Gaeta G Battista, Alferio Niglio
Background/Aim: A reduction in portal vein inflow velocity seems to predispose to the emergence of portal vein thrombosis (PVT). Nonselective β-blockers (NSBBs), used to prevent variceal bleeding, may increase the development of PVT by reducing portal vein inflow velocity. In this retrospective case-control study, we evaluated the risk factors and clinical features of a first event of PVT in 130 cirrhotics, 19 (15%) with (PVT group) and 111 (85%) without PVT (non-PVT group). Patients and Methods: Patient evaluation and NNBB treatment were carried out according to the AASLD guidelines...
January 2018: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/29451148/increased-endogenous-sulfur-dioxide-involved-in-the-pathogenesis-of-postural-tachycardia-syndrome-in-children-a-case-control-study
#18
Hong-Xia Li, Xiao-Chun Zheng, Si-Yao Chen, Ying Liao, Zhen-Hui Han, Pan Huang, Chu-Fan Sun, Jia Liu, Jing-Yuan Song, Chao-Shu Tang, Jun-Bao Du, Yong-Hong Chen, Hong-Fang Jin
Background: The pathogenesis of postural tachycardia syndrome (POTS) remains unclear. This study aimed to explore the changes and significance of sulfur dioxide (SO 2 ) in patients with POTS. Methods: The study included 31 children with POTS and 27 healthy children from Peking University First Hospital between December 2013 and October 2015. A detailed medical history, physical examination results, and demographic characteristics were collected. Hemodynamics was recorded and the plasma SO 2 was determined...
February 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29451078/oncologists-perceptions-of-drug-affordability-using-nccn-evidence-blocks-results-from-a-national-survey
#19
Bijal Shah-Manek, William Wong, Arliene Ravelo, Marco DiBonaventura
BACKGROUND: The increasing prevalence of cancer coupled with approvals of new drugs and technologies used in therapy have brought increased scrutiny to the cost and value of treatments in oncology. To address the rising concern about oncology drug costs, several organizations have developed value frameworks to help assess the value of oncology regimens. The objective of this study was to assess oncologists' perceptions, awareness, and knowledge of all oncology value frameworks in the United States and to understand oncologists' perceptions of affordability in the context of National Comprehensive Cancer Network (NCCN) Evidence Blocks...
February 16, 2018: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/29450992/assessment-of-fragmentation-strategies-for-large-proteins-using-the-multilayer-molecules-in-molecules-approach
#20
Bishnu Thapa, Daniel Beckett, K V Jovan Jose, Krishnan Raghavachari
We present a rigorous evaluation of the potential for the multilayer Molecules-in-Molecules (MIM) fragmentation method to be applied to large biomolecules. Density functional total energies of a test set of 8 peptides, sizes ranging from 107 to 721 atoms, were evaluated with MIM and compared to unfragmented energies to help develop a protocol for the treatment of large proteins. Fragmentation schemes involving subsystems of 4 to 5 covalently bonded fragments (tetramer or pentamer schemes) were tested with a single level of theory (MIM1) and produced errors on the order of 100 kcal/mol due to the relatively small size of the subsystems and the neglect of nonbonded interactions...
February 16, 2018: Journal of Chemical Theory and Computation
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