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D Vardakostas, C Damaskos, N Garmpis, E A Antoniou, K Kontzoglou, G Kouraklis, D Dimitroulis
OBJECTIVE: Liver cysts are divided into congenital and acquired. Congenital cystic lesions include polycystic liver disease, simple cysts, duct related and ciliated hepatic foregut cysts. Acquired cystic lesions are divided into infectious and non-infectious. The infectious cysts are the hydatid cyst, the amoebic abscess, and the pyogenic abscess, whereas the non-infectious cysts are neoplastic cysts and false cysts. While modern medicine provides a lot of minimally invasive therapeutic modalities, there has emerged a pressing need for understanding the various types of liver cysts, the possible minimal therapeutic options along with their indications and complications...
March 2018: European Review for Medical and Pharmacological Sciences
Wenwen Wang, Juan Liu, Jianni Qi, Junyong Zhang, Qiang Zhu, Chengyong Qin
Following the publication of this article, we realize that the title appeared incorrectly: This appeared in print as 'RLIP76 increases apoptosis through Akt/mTOR signaling pathway in gastric cancer', and the corrected title is now featured above ('increases' should have read as 'decreases'). Note that this error did not have any bearing on the results reported in the paper (which were reported accurately in terms of the influence of RLIP76 on apoptosis of human gastric cancer SGC‑7901 and MGC‑803 cells), or the conclusions therein...
May 2018: Oncology Reports
Si Houn Hahn, David Kronn, Nancy D Leslie, Loren D M Pena, Pranoot Tanpaiboon, Michael J Gambello, James B Gibson, Richard Hillman, David W Stockton, John W Day, Raymond Y Wang, Kristina An Haack, Raheel Shafi, Susan Sparks, Yang Zhao, Catherine Wilson, Priya S Kishnani
PurposePompe disease results from lysosomal acid α-glucosidase (GAA) deficiency and its associated glycogen accumulation and muscle damage. Alglucosidase alfa (recombinant human GAA (rhGAA)) received approval in 2006 as a treatment for Pompe disease at the 160 L production scale. In 2010, larger-scale rhGAA was approved for patients up to 8 years old without cardiomyopathy. NCT01526785 evaluated 4,000 L rhGAA efficacy/safety in US infantile- or late-onset Pompe disease (IOPD, LOPD) patients up to 1 year old transitioned from 160 L rhGAA...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Kurt D Christensen, Jason L Vassy, Kathryn A Phillips, Carrie L Blout, Danielle R Azzariti, Christine Y Lu, Jill O Robinson, Kaitlyn Lee, Michael P Douglas, Jennifer M Yeh, Kalotina Machini, Natasha K Stout, Heidi L Rehm, Amy L McGuire, Robert C Green, Dmitry Dukhovny
PurposeGreat uncertainty exists about the costs associated with whole-genome sequencing (WGS).MethodsOne hundred cardiology patients with cardiomyopathy diagnoses and 100 ostensibly healthy primary care patients were randomized to receive a family-history report alone or with a WGS report. Cardiology patients also reviewed prior genetic test results. WGS costs were estimated by tracking resource use and staff time. Downstream costs were estimated by identifying services in administrative data, medical records, and patient surveys for 6 months...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Fabio Girardi, Daniel R Barnes, Daniel Barrowdale, Debra Frost, Angela F Brady, Claire Miller, Alex Henderson, Alan Donaldson, Alex Murray, Carole Brewer, Caroline Pottinger, D Gareth Evans, Diana Eccles, Fiona Lalloo, Helen Gregory, Jackie Cook, Jacqueline Eason, Julian Adlard, Julian Barwell, Kai Ren Ong, Lisa Walker, Louise Izatt, Lucy E Side, M John Kennedy, Marc Tischkowitz, Mark T Rogers, Mary E Porteous, Patrick J Morrison, Ros Eeles, Rosemarie Davidson, Katie Snape, Douglas F Easton, Antonis C Antoniou
PurposeBRCA1/BRCA2 predictive test negatives are proven noncarriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women is uncertain. The study aimed to estimate risks of invasive BC and EOC in a large cohort of BRCA1/BRCA2 predictive test negatives.MethodsWe used cohort analysis to estimate incidences, cumulative risks, and standardized incidence ratios (SIRs).ResultsA total of 1,895 unaffected women were eligible for inclusion in the BC risk analysis and 1,736 in the EOC risk analysis...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Stephany Tandy-Connor, Jenna Guiltinan, Kate Krempely, Holly LaDuca, Patrick Reineke, Stephanie Gutierrez, Phillip Gray, Brigette Tippin Davis
PurposeThere is increasing demand from the public for direct-to-consumer (DTC) genetic tests, and the US Food and Drug Administration limits the type of health-related claims DTC tests can market. Some DTC companies provide raw genotyping data to customers if requested, and these raw data may include variants occurring in genes recommended by the American College of Medical Genetics and Genomics to be reported as incidental/secondary findings. The purpose of this study was to review the outcome of requests for clinical confirmation of DTC results that were received by our laboratory and to analyze variant classification concordance...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Ahmed Alfares, Taghrid Aloraini, Lamia Al Subaie, Abdulelah Alissa, Ahmed Al Qudsi, Ahmed Alahmad, Fuad Al Mutairi, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Mohammed Albalwi, Saeed Alturki, Majid Alfadhel
PurposeWhole-exome sequencing (WES) and whole-genome sequencing (WGS) are used to diagnose genetic and inherited disorders. However, few studies comparing the detection rates of WES and WGS in clinical settings have been performed.MethodsVariant call format files were generated and raw data analysis was performed in cases in which the final molecular results showed discrepancies. We classified the possible explanations for the discrepancies into three categories: the time interval between the two tests, the technical limitations of WES, and the impact of the sequencing system type...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Nicole Hoppman, Kandelaria Rumilla, Emily Lauer, Hutton Kearney, Erik Thorland
PurposeSingle-nucleotide polymorphism (SNP) microarrays can easily identify whole-chromosome isodisomy but are unable to detect whole-chromosome heterodisomy. However, most cases of uniparental disomy (UPD) involve combinations of heterodisomy and isodisomy, visualized on SNP microarrays as long continuous stretches of homozygosity (LCSH). LCSH raise suspicion for, but are not diagnostic of, UPD, and reporting necessitates confirmatory testing. The goal of this study was to define optimal LCSH reporting standards...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Lynn W Bush, Louis E Bartoshesky, Karen L David, Benjamin Wilfond, Janet L Williams, Ingrid A Holm
Disclaimer: This article is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality patient care. Adherence to the information contained in this article does not necessarily assure a successful medical outcome. This information and any associated recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, each provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Zöe Powis, Kelly D Farwell Hagman, Virginia Speare, Taylor Cain, Kirsten Blanco, Layla S Mowlavi, Emily M Mayerhofer, David Tilstra, Timothy Vedder, Jesse M Hunter, Marilyn Tsang, Lina Gonzalez, Gerald Vockley, Sha Tang
PurposeNeonatal patients are particularly appropriate for utilization of diagnostic exome sequencing (DES), as many Mendelian diseases are known to present in this period of life but often with complex, heterogeneous features. We attempted to determine the diagnostic rates and features of neonatal patients undergoing DES.MethodsThe clinical histories and results of 66 neonatal patients undergoing DES were retrospectively reviewed.ResultsClinical DES identified potentially relevant findings in 25 patients (37...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Simon Burall
No abstract text is available yet for this article.
March 22, 2018: Nature
(no author information available yet)
No abstract text is available yet for this article.
March 22, 2018: Nature
Tamer A El-Sobky, Shady Samir, Ahmed Naeem Atiyya, Shady Mahmoud, Ahmad S Aly, Ramy Soliman
INTRODUCTION: This systematic review aims to answer three research questions concerning the management of hereditary multiple osteochondromas of forearm in children: What is the best available evidence for the currently employed surgical procedures? What patient characteristics are associated with better prognosis? What disease characteristics are associated with better prognosis? METHODS: We searched the literature using three major databases with no publication date restrictions...
2018: SICOT-J
Lancer A Scott, Layne A Madden, Amy E Wahlquist, Daniel W Fisher
Purpose Clinical disaster medicine requires providers working collaboratively to care for multiple patients, yet many clinicians lack competency-based training. A 5-hour emergency preparedness training (EPT) curriculum was created using didactics, small group discussion, and scenario-based learning. The goal was to evaluate the effect of a short course on improving clinical-provider knowledge, confidence and skill. METHODS: Participants were enrolled in a medical university between 2011 and 2014...
February 2018: Disaster Medicine and Public Health Preparedness
Meiji Soe Aung, Nilar San, Win Win Maw, Thida San, Noriko Urushibara, Mitsuyo Kawaguchiya, Ayako Sumi, Nobumichi Kobayashi
The increasing trend of Escherichia coli producing extended-spectrum beta-lactamases (ESBLs) and carbapenemases is a global public health concern. In this study, prevalence and molecular characteristics of E. coli harboring ESBL and carbapenemase genes were investigated for 426 isolates derived from various clinical specimens in a teaching hospital in Yangon, Myanmar, for the 1-year period beginning January 2016. A total of 157 isolates (36.9%) were ESBL producers and harbored CTX-M-1 group genes (146 isolates; blaCTX-M-15 , blaCTX-M55 ) or CTX-M-9 group genes (11 isolates; blaCTX-M-14 , blaCTX-M-27 )...
March 22, 2018: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
Erin D Solomon, Jana M Hackathorn, David Crittendon
As the number of political scandals rises, we examined the circumstances that might influence how a politician would be judged as a result of a scandal. Specifically, we hypothesized that ingroup bias theory and shifting standards theory would produce different patterns of judgements. In two studies, we found support for the ingroup bias theory, such that participants rated the fictitious politician's public approval and perceived character as higher if the politician was a member of their own political party (i...
March 22, 2018: Journal of Social Psychology
Jaein Seo, B Douglas Smith, Elihu Estey, Ernest Voyard, Bernadette O' Donoghue, John F P Bridges
OBJECTIVE: Acute myeloid leukemia (AML) is a progressive blood cancer with few effective treatment options. As part of a patient-focused drug development (PFDD) initiative led by the Leukemia and Lymphoma Society (LLS), we sought to use a community-centered approach to develop and pilot an instrument to measure patient preferences for the benefits and risks of treating AML. METHODS: Instrument development was informed by a literature review, engagement with expert stakeholders (n = 12), engagement with community stakeholders, and pretesting...
March 22, 2018: Current Medical Research and Opinion
Dario Kivelevitch, Jillian Frieder, Ian Watson, So Yeon Paek, M Alan Menter
Despite great therapeutic advancements in psoriasis, four notable difficult-to-treat areas including the scalp, nails, intertriginous (including genitals), and palmoplantar regions, pose a challenge to both physicians and patients. Localized disease of these specific body regions inflicts a significant burden on patients' quality of life and requires an adequate selection of treatments. Areas covered: This manuscript discusses appropriate therapies and important treatment considerations for these difficult-to-treat areas based on the available clinical data from the literature...
March 22, 2018: Expert Opinion on Pharmacotherapy
Blanca Ribot, Francisco Ruiz-Díez, Susana Abajo, Gemma March, Francesc Fargas, Victoria Arija
OBJECTIVE: To evaluate the prevalence of anaemia and the risk of haemoconcentration and its risk factors during all 3 trimesters of pregnancy in women in a Mediterranean area in the south of Europe. MATERIAL AND METHODS: Longitudinal study of 11,259 women whose pregnancies were monitored at primary care centres between 2007 and 2012. The computerised clinical histories of all the pregnancies were used to collect haemoglobin (Hb) data for each trimester. The histories also provided information on the age of the mother, her socioeconomic status, the presence of obesity, tobacco use, type of pregnancy, and number of previous pregnancies and births...
January 10, 2018: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
María Julia Ajejas Bazán, María Isabel Jiménez-Trujillo, Julia Wärnberg, Silvia Domínguez Fernández, Ana López-de-Andrés, Napoleón Pérez-Farinós
INTRODUCTION: Childhood obesity is a recognized public health problem. The present work reports the changing prevalence of childhood overweight/obesity in Spanish boys and girls over the period 1993-2011, and examines the risk factors apparent in 2011. METHODS: Children with a body mass index (BMI) of ≥ 25 were deemed overweight, and those with a BMI of ≥ 30 were deemed obese. Overweight and obesity was consistently more common among boys than among girls. RESULTS: The prevalence of overweight and obesity in Spain increased over the study period...
January 16, 2018: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
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