5,610 results match your criteria Gilbert Syndrome


Crigler-Najjar syndrome: therapeutic options and consequences of mutations in the UGT1A1 complex.

Expert Rev Endocrinol Metab 2008 Nov;3(6):725-737

b Paediatric Liver Centre, King's College London School of Medicine at King's College Hospital, Denmark Hill, London SE5 9PJ, UK.

Crigler-Najjar syndrome (CN), a rare inherited disorder characterized by failure of bilirubin glucuronidation, can lead to severe disability and death from kernicterus. Gilbert syndrome is a more common, benign familial unconjugated hyperbilirubinemia. The underlying problem in both conditions is impaired bilirubin conjugation and elimination due to a mutation in uridine 5'-diphosphate glucuronyltransferase. Read More

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http://dx.doi.org/10.1586/17446651.3.6.725DOI Listing
November 2008

Stifle joint osteoarthritis at the time of diagnosis of cranial cruciate ligament injury is higher in Boxers and in dogs weighing more than 35 kilograms.

Vet Radiol Ultrasound 2019 Feb 15. Epub 2019 Feb 15.

Department of Population Health and Pathobiology, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, 27607.

Osteoarthritis is a ubiquitous disease in dogs. The purpose of this retrospective study was to characterize the severity and distribution of osteoarthritis (OA) within the joint and to identify differences among dog breeds in the severity of OA in the cranial cruciate ligament (CCL)-deficient stifle joint. Radiographs of 240 stifles from 51 Boxers, 66 German Shepherds, 100 Labrador Retrievers, and 23 Siberian Huskies with confirmed CCL rupture were included. Read More

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http://dx.doi.org/10.1111/vru.12718DOI Listing
February 2019

in individuals at risk for rheumatoid arthritis.

Ann Rheum Dis 2019 Feb 13. Epub 2019 Feb 13.

Department of Microbial Immune Regulation, Helmholtz Centre for Infection Research, Braunschweig, Germany

Objectives: Rheumatoid arthritis (RA) has been associated with a relative expansion of faecal Prevotellaceae. To determine the microbiome composition and prevalence of spp. in a group of individuals at increased risk for RA, but prior to the development of the disease. Read More

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http://dx.doi.org/10.1136/annrheumdis-2018-214514DOI Listing
February 2019

Infective Endocarditis in Injection Drug Users: A Recurrent Disease.

J Am Coll Cardiol 2019 Feb;73(5):571-572

Aix-Marseille Université, Institut de Recherche pour le Developpement, Assistance Publique Hopitaux de Marseille, Microbes Evolution Phylogeny and Infection, Institut Hospitalo-Universitaire Méditerranée Infection, Marseille, France.

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http://dx.doi.org/10.1016/j.jacc.2018.10.081DOI Listing
February 2019
1 Read

Absence of adaptive evolution is the main barrier against influenza emergence in horses in Asia despite frequent virus interspecies transmission from wild birds.

PLoS Pathog 2019 Feb 7;15(2):e1007531. Epub 2019 Feb 7.

MRC-University of Glasgow Centre for Virus Research, Glasgow, United Kingdom.

Virus ecology and evolution play a central role in disease emergence. However, their relative roles will vary depending on the viruses and ecosystems involved. We combined field studies, phylogenetics and experimental infections to document with unprecedented detail the stages that precede initial outbreaks during viral emergence in nature. Read More

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http://dx.doi.org/10.1371/journal.ppat.1007531DOI Listing
February 2019
1 Read

Comparison of loop-mediated isothermal amplification (LAMP) and real-time polymerase chain reaction (PCR) assays for the detection of in different specimen matrices.

J Clin Microbiol 2019 Feb 6. Epub 2019 Feb 6.

Parasitology Laboratory, Centre for Infectious Diseases and Microbiology, Institute for Clinical Pathology and Medical Research - New South Wales Health Pathology, Westmead Hospital, Westmead, New South Wales, Australia.

can cause disease that ranges from asymptomatic chronic infection to fatal hyperinfection. Diagnosis from stool can be challenging because the most sensitive conventional tests require live larvae to be effective and there can be low larval output in chronic infection. Nucleic acid amplification tests (NAAT) have been developed to complement existing diagnostic methods. Read More

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http://dx.doi.org/10.1128/JCM.01173-18DOI Listing
February 2019
1 Read

Independent Left Ventricular Morphometric Atlases Show Consistent Relationships with Cardiovascular Risk Factors: A UK Biobank Study.

Sci Rep 2019 Feb 4;9(1):1130. Epub 2019 Feb 4.

Department of Anatomy and Medical Imaging, University of Auckland, Auckland, New Zealand.

Left ventricular (LV) mass and volume are important indicators of clinical and pre-clinical disease processes. However, much of the shape information present in modern imaging examinations is currently ignored. Morphometric atlases enable precise quantification of shape and function, but there has been no objective comparison of different atlases in the same cohort. Read More

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http://dx.doi.org/10.1038/s41598-018-37916-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362245PMC
February 2019

The frequency, clinical course, and health related quality of life in adults with Gilbert's syndrome: a longitudinal study.

BMC Gastroenterol 2019 Feb 4;19(1):22. Epub 2019 Feb 4.

Faculty of Medicine, Misr University for Science and Technology, Cairo, Egypt.

Background: Gilbert syndrome (GS) is an autosomal recessive inherited disorder of bilirubin glucuronidation which has not been investigated in Egypt. This longitudinal study investigated the frequency, clinical course, genetic profile and health related quality of life in Egyptian adults.

Methods: An initial cross-sectional study was conducted to assess the frequency of Gilbert syndrome among Egyptian adults. Read More

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http://dx.doi.org/10.1186/s12876-019-0931-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360704PMC
February 2019
2 Reads

Gardnerella vaginalis and Prevotella bivia Trigger Distinct and Overlapping Phenotypes in a Mouse Model of Bacterial Vaginosis.

J Infect Dis 2019 Feb 1. Epub 2019 Feb 1.

Department of Obstetrics and Gynecology, Rheumatology Division, Washington University School of Medicine, St. Louis, Missouri.

Background: Bacterial vaginosis (BV) is a common imbalance of the vaginal microbiota characterized by overgrowth of diverse Actinobacteria, Firmicutes, and Gram-negative anaerobes. Women with BV are at increased risk of secondary reproductive tract infections and adverse pregnancy outcomes. However, which specific bacteria cause clinical features of BV is unclear. Read More

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http://dx.doi.org/10.1093/infdis/jiy704DOI Listing
February 2019
1 Read

Coinheritance of HbD-Punjab/β+-thalassemia (IVSI+5 G-C) in patient with Gilbert's syndrome.

Ter Arkh 2018 Aug;90(7):105-109

National Research Center for Hematology, Moscow, Russia.

Thalassemia and qualitative hemoglobinopathy are hereditary disorders of Hb synthesis that lead to change in the Hb conformation or a decrease in the synthesis of structurally normal Hb, and consequently, to erythron pathology. Many variants of Hb are unstable or have altered affinity for oxygen, and, in heterozygous form can be associated with clinical and hematological manifestations (hemolytic anemia, hypochromic microcytic anemia, erythrocytosis). HbD-Punjab [β121 (GH4) Glu → Gln; HBB: C. Read More

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http://dx.doi.org/10.26442/terarkh2018907105-109DOI Listing
August 2018
2 Reads

Phenotype of macular corneal dystrophy in Labrador Retrievers: A multicenter study.

Vet Ophthalmol 2019 Jan 30. Epub 2019 Jan 30.

National Veterinary School of Touluose, Toulouse, France.

Objective: To describe the phenotype of canine macular corneal dystrophy (MCD) including the clinical presentation, multimodal ocular imaging, histopathology, and ultrastructural analysis in ten Labrador Retrievers.

Procedure: Multicentered data collection.

Results: Labrador Retrievers affected by MCD were presented between the age of 4. Read More

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http://dx.doi.org/10.1111/vop.12596DOI Listing
January 2019

Genetics behind the biosynthesis of nonulosonic acid containing lipooligosaccharides in .

J Bacteriol 2019 Jan 28. Epub 2019 Jan 28.

Department of Chemistry and Biology, Ryerson University, Toronto, Canada.

and are the most common cause of bacterial gastroenteritis in the world. Ganglioside mimicry by lipooligosaccharide (LOS) is the triggering factor of Guillain-Barré syndrome (GBS), an acute polyneuropathy. Sialyltransferases from the glycosyltransferase (GT) family 42 are essential for the expression of ganglioside mimics in Recently, two novel GT-42 genes, and , have been identified in Despite being present in ∼11% of currently available genomes, the biological role of and is unknown. Read More

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http://jb.asm.org/lookup/doi/10.1128/JB.00759-18
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http://dx.doi.org/10.1128/JB.00759-18DOI Listing
January 2019
2 Reads

Delivery of nucleic acids to ex vivo porcine airways using electrospray.

Exp Lung Res 2019 Jan 24:1-12. Epub 2019 Jan 24.

b Avectas Ltd. , Maynooth , Ireland.

Aim Of The Study: Nucleic acid-based therapies have the potential to provide clinically meaningful benefit across a wide spectrum of lung disease. However, in vivo delivery remains a challenge. Here we examined the feasibility of using electrospray to deliver nucleic acids to both porcine tracheal tissue sections and whole lung ex vivo. Read More

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https://www.tandfonline.com/doi/full/10.1080/01902148.2018.1
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http://dx.doi.org/10.1080/01902148.2018.1563924DOI Listing
January 2019
3 Reads

[Study on spectrum of UGT1A1 mutations in connection with inherited non-hemolytic unconjugated hyperbilirubinemia].

Zhonghua Gan Zang Bing Za Zhi 2018 Dec;26(12):898-902

Liver Disease Department, Nanjing Second Hospital, Affiliated to Nanjing University of Chinese Medicine, Nanjing 210003, China.

To compare and analyze patient's general condition, changes in laboratory parameters, and the spectrum of UGT1A1 mutations in patients with inherited non-hemolytic unconjugated hyperbilirubinemia. A retrospective study was conducted at Nanjing Second Hospital from January 2015 to July 2018 and patients' demographic characteristics, liver function test, and UGT1A1 gene were analyzed. The categorical variable data were compared by (2) test. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1007-3418.2018.12.005DOI Listing
December 2018
1 Read

Assessing the Impact of a Social Marketing Campaign on Program Outcomes for Users of an Internet-Based Testing Service for Sexually Transmitted and Blood-Borne Infections: Observational Study.

J Med Internet Res 2019 Jan 21;21(1):e11291. Epub 2019 Jan 21.

School of Population and Public Health, University of British Columbia, Vancouver, BC, Canada.

Background: While social marketing (SM) campaigns can be effective in increasing testing for sexually transmitted and blood-borne infections (STBBIs), they are seldom rigorously evaluated and often rely on process measures (eg, Web-based ad click-throughs). With Web-based campaigns for internet-based health services, there is a potential to connect campaign process measures to program outcomes, permitting the assessment of venue-specific yield based on health outcomes (eg, click-throughs per test).

Objective: This study aims to evaluate the impact of an SM campaign by the promotional venue on use and diagnostic test results of the internet-based STBBI testing service GetCheckedOnline. Read More

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http://dx.doi.org/10.2196/11291DOI Listing
January 2019
6 Reads

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.

Authors:
Ganesh Chauhan Hieab H H Adams Claudia L Satizabal Joshua C Bis Alexander Teumer Muralidharan Sargurupremraj Edith Hofer Stella Trompet Saima Hilal Albert Vernon Smith Xueqiu Jian Rainer Malik Matthew Traylor Sara L Pulit Philippe Amouyel Bernard Mazoyer Yi-Cheng Zhu Sara Kaffashian Sabrina Schilling Gary W Beecham Thomas J Montine Gerard D Schellenberg Olafur Kjartansson Vilmundur Guðnason David S Knopman Michael E Griswold B Gwen Windham Rebecca F Gottesman Thomas H Mosley Reinhold Schmidt Yasaman Saba Helena Schmidt Fumihiko Takeuchi Shuhei Yamaguchi Toru Nabika Norihiro Kato Kumar B Rajan Neelum T Aggarwal Philip L De Jager Denis A Evans Bruce M Psaty Jerome I Rotter Kenneth Rice Oscar L Lopez Jiemin Liao Christopher Chen Ching-Yu Cheng Tien Y Wong Mohammad K Ikram Sven J van der Lee Najaf Amin Vincent Chouraki Anita L DeStefano Hugo J Aparicio Jose R Romero Pauline Maillard Charles DeCarli Joanna M Wardlaw Maria Del C Valdés Hernández Michelle Luciano David Liewald Ian J Deary John M Starr Mark E Bastin Susana Muñoz Maniega P Eline Slagboom Marian Beekman Joris Deelen Hae-Won Uh Robin Lemmens Henry Brodaty Margaret J Wright David Ames Giorgio B Boncoraglio Jemma C Hopewell Ashley H Beecham Susan H Blanton Clinton B Wright Ralph L Sacco Wei Wen Anbupalam Thalamuthu Nicola J Armstrong Elizabeth Chong Peter R Schofield John B Kwok Jeroen van der Grond David J Stott Ian Ford J Wouter Jukema Meike W Vernooij Albert Hofman André G Uitterlinden Aad van der Lugt Katharina Wittfeld Hans J Grabe Norbert Hosten Bettina von Sarnowski Uwe Völker Christopher Levi Jordi Jimenez-Conde Pankaj Sharma Cathie L M Sudlow Jonathan Rosand Daniel Woo John W Cole James F Meschia Agnieszka Slowik Vincent Thijs Arne Lindgren Olle Melander Raji P Grewal Tatjana Rundek Kathy Rexrode Peter M Rothwell Donna K Arnett Christina Jern Julie A Johnson Oscar R Benavente Sylvia Wasssertheil-Smoller Jin-Moo Lee Quenna Wong Braxton D Mitchell Stephen S Rich Patrick F McArdle Mirjam I Geerlings Yolanda van der Graaf Paul I W de Bakker Folkert W Asselbergs Velandai Srikanth Russell Thomson Rebekah McWhirter Chris Moran Michele Callisaya Thanh Phan Loes C A Rutten-Jacobs Steve Bevan Christophe Tzourio Karen A Mather Perminder S Sachdev Cornelia M van Duijn Bradford B Worrall Martin Dichgans Steven J Kittner Hugh S Markus Mohammad A Ikram Myriam Fornage Lenore J Launer Sudha Seshadri W T Longstreth Stéphanie Debette

Neurology 2019 Jan 16. Epub 2019 Jan 16.

Objective: To explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts.

Methods: We performed meta-analyses of genome-wide association studies (GWAS) and examined associations of vascular risk factors and their genetic risk scores (GRS) with MRI-defined BI and a subset of BI, namely, small subcortical BI (SSBI), in 18 population-based cohorts (n = 20,949) from 5 ethnicities (3,726 with BI, 2,021 with SSBI). Top loci were followed up in 7 population-based cohorts (n = 6,862; 1,483 with BI, 630 with SBBI), and we tested associations with related phenotypes including ischemic stroke and pathologically defined BI. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006851DOI Listing
January 2019
12 Reads
8.286 Impact Factor

Increased risk of HPV-associated genital cancers in men and women as a consequence of pre-invasive disease.

Int J Cancer 2019 Jan 16. Epub 2019 Jan 16.

Institute of Cancer Sciences, University of Glasgow, McGregor Building (Level 1), University Avenue, Glasgow, G12 8QQ.

To assess the excess risk of HPV-associated cancer (HPVaC) in two at-risk groups - women with a previous diagnosis of high grade cervical intraepithelial neoplasia (CIN3) and both men and women treated for non-cervical pre-invasive ano-genital disease. All CIN3 cases diagnosed in 1989-2015 in Scotland were extracted from the Scottish cancer registry (SMR06). All cases of pre-invasive penile, anal, vulval, and vaginal disease diagnosed in 1990-2015 were identified within the NHS pathology databases in the two largest NHS health boards in Scotland. Read More

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http://dx.doi.org/10.1002/ijc.32126DOI Listing
January 2019
2 Reads

Comparative Genomic Screen in Two Yeasts Reveals Conserved Pathways in the Response Network to Phenol Stress.

G3 (Bethesda) 2019 Jan 15. Epub 2019 Jan 15.

The Claremont Colleges

Living organisms encounter various perturbations, and response mechanisms to such perturbations are vital for species survival. Defective stress responses are implicated in many human diseases including cancer and neurodegenerative disorders. Phenol derivatives, naturally occurring and synthetic, display beneficial as well as detrimental effects. Read More

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http://dx.doi.org/10.1534/g3.118.201000DOI Listing
January 2019

Association of nutritional status and health-related quality of life in children with chronic kidney disease.

Qual Life Res 2019 Jan 12. Epub 2019 Jan 12.

Southampton Children's Hospital, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, SO16 6YD, UK.

Purpose: Health-related quality of life (HRQoL) is an important, patient-centred measure. Although nutritional status is altered in children with CKD, the impact of nutritional status on HRQoL in this population has not been explored. The aims of this study are to report the HRQoL scores as assessed by the validated PedsQL™ questionnaire and to explore the relationship of HRQoL scores to markers of nutritional status. Read More

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http://link.springer.com/10.1007/s11136-019-02104-0
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http://dx.doi.org/10.1007/s11136-019-02104-0DOI Listing
January 2019
4 Reads

Post-test comparison of HIV test knowledge and changes in sexual risk behaviour between clients accessing HIV testing online versus in-clinic.

Sex Transm Infect 2019 Jan 13. Epub 2019 Jan 13.

Clinical Prevention Services, British Columbia Centre for Disease Control, Vancouver, British Columbia, Canada

Objective: Internet-based HIV testing offers the potential to address privacy-related barriers to testing and increase frequency of testing but may result in missed opportunities related to sexual health education and prevention that typically occur in face-to-face encounters. In this study, we assessed the HIV test knowledge and sexual risk behaviour of clients testing for HIV through , an internet-based sexually transmitted and bloodborne infection testing platform inclusive of HIV testing, in comparison to clients testing through a large sexual health clinic.

Methods: We concurrently recruited clients and clinic clients from Vancouver, Canada, over the course of a 10-month period during 2015-2016. Read More

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http://dx.doi.org/10.1136/sextrans-2018-053652DOI Listing
January 2019
3.401 Impact Factor

Qualitative analysis of the experiences of gay, bisexual and other men who have sex with men who use : a comprehensive internet-based diagnostic service for HIV and other STIs.

Sex Transm Infect 2019 Jan 13. Epub 2019 Jan 13.

School of Population and Public Health, University of British Columbia, Vancouver, Canada.

Objectives: To describe the factors that influence gay, bisexual and other men who have sex with men's (gbMSM) experiences with (GCO) in British Columbia (BC), Canada. GCO clients complete an internet-based risk assessment and print a laboratory test requisition form for HIV and other STIs to take to a private laboratory for diagnostic services.

Methods: Drawing on a purposive stratified sampling framework, we conducted 37 in-depth semistructured interviews with gbMSM who had used GCO at least once between 2015 and 2017. Read More

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http://dx.doi.org/10.1136/sextrans-2018-053645DOI Listing
January 2019
1 Read

Methods for comparing durability of immune responses between vaccine regimens in early-phase trials.

Stat Methods Med Res 2019 Jan 9:962280218820881. Epub 2019 Jan 9.

2 Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.

The ability to produce a long-lasting, or durable, immune response is a crucial characteristic of many highly effective vaccines. A goal of early-phase vaccine trials is often to compare the immune response durability of multiple tested vaccine regimens. One parameter for measuring immune response durability is the area under the mean post-peak log immune response profile. Read More

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http://dx.doi.org/10.1177/0962280218820881DOI Listing
January 2019
5 Reads

Production diseases in smallholder pig systems in rural Lao PDR.

Prev Vet Med 2019 Jan 29;162:110-116. Epub 2018 Nov 29.

Animal and Human Health Program, International Livestock Research Institute, Hanoi, Vietnam.

Pigs in Lao People's Democratic Republic are important for income and food security, particularly in rural households. The majority of pigs are reared in smallholder systems, which may challenge the implementation of any disease control strategies. To investigate risk factors for pig production diseases in such farming systems in the country a serological survey was conducted during 2011. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01675877183049
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http://dx.doi.org/10.1016/j.prevetmed.2018.11.012DOI Listing
January 2019
6 Reads
2.167 Impact Factor

Effectiveness of text messaging interventions on prevention, detection, treatment, and knowledge outcomes for sexually transmitted infections (STIs)/HIV: a systematic review and meta-analysis.

Syst Rev 2019 Jan 8;8(1):12. Epub 2019 Jan 8.

University of British Columbia, Box 42, 4500 Oak Street, Vancouver, BC, V6H 3N1, Canada.

Background: Rates of STIs continue to rise worldwide, and novel evidence-based interventions such as text messaging aimed at improving client services are needed. We conducted a meta-analysis to evaluate text messaging to support STI/HIV prevention and treatment interventions.

Methods: We included articles that reported findings from randomized controlled trials (RTCs) involving adults and youth who were at risk of acquiring (or who currently had) a STI and/or HIV, a text message and comparator intervention, and reported provided outcome data on adherence to STI/HIV treatments. Read More

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https://systematicreviewsjournal.biomedcentral.com/articles/
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http://dx.doi.org/10.1186/s13643-018-0921-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323863PMC
January 2019
1 Read

Pooled analysis of WHO Surgical Safety Checklist use and mortality after emergency laparotomy.

Authors:

Br J Surg 2019 Jan;106(2):e103-e112

Background: The World Health Organization (WHO) Surgical Safety Checklist has fostered safe practice for 10 years, yet its place in emergency surgery has not been assessed on a global scale. The aim of this study was to evaluate reported checklist use in emergency settings and examine the relationship with perioperative mortality in patients who had emergency laparotomy.

Methods: In two multinational cohort studies, adults undergoing emergency laparotomy were compared with those having elective gastrointestinal surgery. Read More

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http://doi.wiley.com/10.1002/bjs.11051
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http://dx.doi.org/10.1002/bjs.11051DOI Listing
January 2019
4 Reads

Epigenetic underpinnings of developmental immunotoxicity and autoimmune disease.

Curr Opin Toxicol 2018 Aug 1;10:23-30. Epub 2017 Dec 1.

University of Arkansas for Medical Sciences, Arkansas Children's Research Institute, 13 Children's Way, Little Rock, AR 72202, USA.

The concordance rate for developing autoimmune disease in identical twins is around 50% demonstrating that gene and environmental interactions contribute to disease etiology. The environmental contribution to autoimmune disease is a wide-ranging concept including exposure to immunotoxic environmental chemicals. Because the immune system is immature during development suggests that adult-onset autoimmunity may originate when the immune system is particularly sensitive. Read More

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http://dx.doi.org/10.1016/j.cotox.2017.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6319940PMC

Can early intervention in pediatric asthma improve long-term outcomes? A question that needs an answer.

Pediatr Pulmonol 2019 Mar 4;54(3):348-357. Epub 2019 Jan 4.

Boys Town National Research Hospital, Omaha, Nebraska.

Objective: Although many children with asthma do not experience persistence into adulthood, recent studies have suggested that poorly controlled asthma in childhood may be associated with significant airflow obstruction in adulthood. However, data regarding disease progression are lacking, and clinicians are not yet able to predict the course of a child's asthma. The goal of this article was to assess the current understanding of childhood asthma treatment and progression and to highlight gaps in information that remain. Read More

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http://dx.doi.org/10.1002/ppul.24224DOI Listing

Trends in HIV care cascade engagement among diagnosed people living with HIV in Ontario, Canada: A retrospective, population-based cohort study.

PLoS One 2019 4;14(1):e0210096. Epub 2019 Jan 4.

Data and Applied Science Impact, Ontario HIV Treatment Network, Toronto, Canada.

Background: The HIV cascade is an important framework for assessing systems of care, but population-based assessment is lacking for most jurisdictions worldwide. We measured cascade indicators over time in a population-based cohort of diagnosed people living with HIV (PLWH) in Ontario, Canada.

Methods: We created a retrospective cohort of diagnosed PLWH using a centralized laboratory database with HIV diagnostic and viral load (VL) test records linked at the individual-level. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0210096PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6319701PMC
January 2019
8 Reads

Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.

J Clin Oncol 2019 Feb 4;37(6):461-470. Epub 2019 Jan 4.

1 University of Toronto, Toronto, Ontario, Canada.

Purpose: Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As several cancer syndromes are clinically similar, accurate diagnosis is critical to cancer screening and treatment. As genetic diagnosis is confounded by 15 or more pseudogenes and variants of uncertain significance, a robust diagnostic assay is urgently needed. Read More

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http://dx.doi.org/10.1200/JCO.18.00474DOI Listing
February 2019
4 Reads

Managing the risk of Hendra virus spillover in Australia using ecological approaches: A report on three community juries.

PLoS One 2018 31;13(12):e0209798. Epub 2018 Dec 31.

Sydney Health Ethics, School of Public Health, University of Sydney, Sydney, NSW, Australia.

Background: Hendra virus (HeV) infection is endemic in Australian flying-fox populations. Habitat loss has increased the peri-urban presence of flying-foxes, increasing the risk of contact and therefore viral 'spillovers' into horse and human populations. An equine vaccine is available and horse-husbandry practices that minimize HeV exposure are encouraged, but their adoption is suboptimal. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0209798PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312203PMC
December 2018

Identifying cis Elements for Spatiotemporal Control of Mammalian DNA Replication.

Cell 2019 Feb 27;176(4):816-830.e18. Epub 2018 Dec 27.

Department of Biological Science, Florida State University, Tallahassee, FL 32306, USA. Electronic address:

The temporal order of DNA replication (replication timing [RT]) is highly coupled with genome architecture, but cis-elements regulating either remain elusive. We created a series of CRISPR-mediated deletions and inversions of a pluripotency-associated topologically associating domain (TAD) in mouse ESCs. CTCF-associated domain boundaries were dispensable for RT. Read More

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http://dx.doi.org/10.1016/j.cell.2018.11.036DOI Listing
February 2019
1 Read
32.242 Impact Factor

Inference on treatment effect modification by biomarker response in a three-phase sampling design.

Biostatistics 2018 Dec 26. Epub 2018 Dec 26.

Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave N., Seattle, WA 98109, USA and Department of Biostatistics, University of Washington, 1705 NE Pacific Street, Seattle, WA 98195, USA.

An objective in randomized clinical trials is the evaluation of "principal surrogates," which consists of analyzing how the treatment effect on a clinical endpoint varies over principal strata subgroups defined by an intermediate response outcome under both or one of the treatment assignments. The latter effect modification estimand has been termed the marginal causal effect predictiveness (mCEP) curve. This objective was addressed in two randomized placebo-controlled Phase 3 dengue vaccine trials for an antibody response biomarker whose sampling design rendered previously developed inferential methods highly inefficient due to a three-phase sampling design. Read More

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http://dx.doi.org/10.1093/biostatistics/kxy074DOI Listing
December 2018

Induction of mild hyperbilirubinemia: Hype or real therapeutic opportunity?

Clin Pharmacol Ther 2018 Dec 27. Epub 2018 Dec 27.

Fondazione Italiana Fegato ONLUS, AREA Science Park-Basovizza, Bldg Q, Ss 14, km 163.5 -34149, Trieste, Italy Trieste, Italy.

Observational epidemiological studies showed that mild hyperbilirubinemia has beneficial effects on prevention from cardiovascular disease (CVD), type 2 diabetes mellitus (T2DM) and metabolic syndrome (MetS). In mammals, bilirubin plays a major role as a potent antioxidant. UGT1A1 variants coding for bilirubin UDP-glucuronosyl transferase resulting in mild hyperbilirubinemia (as in Gilbert syndrome (GS)) may confer a strong genetic advantage. Read More

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http://doi.wiley.com/10.1002/cpt.1341
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http://dx.doi.org/10.1002/cpt.1341DOI Listing
December 2018
5 Reads

Novel Model to Predict Gastrointestinal Bleeding During Left Ventricular Assist Device Support.

Circ Heart Fail 2018 Nov;11(11):e005267

Division of Cardiology, Department of Medicine (M.Y.Y., S.R., I.T., E.M.G., J.N.-N., J.S., G.J.S., J.C.F., S.G.D., O.W.-P.).

Background: Gastrointestinal bleeding (GIB) is a leading cause of morbidity during continuous-flow left ventricular assist device (CF-LVAD) support. GIB risk assessment could have important implications for candidate selection, informed consent, and postimplant therapeutic strategies. The aim of the study is to derive and validate a predictive model of GIB in CF-LVAD patients. Read More

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http://dx.doi.org/10.1161/CIRCHEARTFAILURE.118.005267DOI Listing
November 2018

Incidence and Risk of Gallstone Disease in Gilbert's Syndrome Patients in Indian Population.

J Clin Exp Hepatol 2018 Dec 30;8(4):362-366. Epub 2017 Dec 30.

Asian Healthcare Foundation, 6-3-661, Somajiguda, Hyderabad 500082, Telangana, India.

Background/objectives: Individuals with Gilbert's syndrome (GS) harbor mutations in the gene and are known to have elevated levels of bilirubin, which enhances the risk for gall stone formation. The aim of this study is to screen Indian patients with GS for the incidence of gall stone disease.

Methods: Individuals with persistently elevated serum bilirubin levels were genotyped for two polymorphisms (rs8175347; rs4148323) in gene to confirm GS in them. Read More

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http://dx.doi.org/10.1016/j.jceh.2017.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286431PMC
December 2018
14 Reads

Stretch-Activated Piezo1 Channel in Endothelial Cells Relaxes Mouse Intrapulmonary Arteries.

Am J Respir Cell Mol Biol 2018 Dec 18. Epub 2018 Dec 18.

Universite de Bordeaux, 27086, Talence, Aquitaine, France.

In intrapulmonary artery (IPA), endothelial cells (EC) respond to mechanical stimuli by releasing vasoactive factors to set the vascular tone. Piezo1, a stretch-activated calcium permeable channel is a sensor of mechanical stress in EC. The present study was undertaken to investigate the implication of Piezo1 in the endothelium-dependent regulation of IPA tone and its potential involvement in pulmonary hypertension, the main disease of this circulation. Read More

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http://dx.doi.org/10.1165/rcmb.2018-0197OCDOI Listing
December 2018
1 Read

Herpes Zoster Rates Continue to Decline in People Living with HIV but Remain Higher than Rates Reported in the General US Population.

Clin Infect Dis 2018 Dec 18. Epub 2018 Dec 18.

Infectious Disease Clinical Research Program, Preventive Medicine and Biostatistics Department, Uniformed Services University of the Health Sciences, Bethesda, MD.

We examined the incidence and risk factors for HZ in people living with HIV (PLWH) in the ART era. Although HZ incidence has declined, at 0.9 cases/100 Person Years, the incidence is three-fold higher than the general population, emphasizing the need for studies of the subunit vaccine in PLWH. Read More

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http://dx.doi.org/10.1093/cid/ciy1041DOI Listing
December 2018
1 Read

Inhibition of complement C1s improves severe hemolytic anemia in cold agglutinin disease: a first-in-human trial.

Blood 2018 Dec 17. Epub 2018 Dec 17.

Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria;

Cold agglutinin disease is a difficult-to-treat autoimmune hemolytic anemia in which immunoglobulin M antibodies bind to erythrocytes and fix complement, resulting in predominantly extravascular hemolysis. This trial tested the hypothesis that the anti-C1s antibody sutimlimab would ameliorate hemolytic anemia. Ten patients with cold agglutinin disease participated in the phase 1b component of a first-in-human trial. Read More

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http://dx.doi.org/10.1182/blood-2018-06-856930DOI Listing
December 2018
2 Reads

UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.

Medicine (Baltimore) 2018 Dec;97(49):e13576

Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, China.

To retrospectively analyze and quantitatively correlate UGT1A1 (bilirubin UDP- glucuronosyltransferase gene) genotypes and unconjugated hyperbilirubinemia (UCH) phenotypes among Chinese children.We retrospectively reviewed UCH patients, quantitatively analyzed genotype-phenotype correlation by comparing with healthy controls. Pfam database, SWISS-model, and Pymol were used for UGT1A1 protein domain analysis and protein modeling for assessing the effect of novel missense variants on protein structure. Read More

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http://dx.doi.org/10.1097/MD.0000000000013576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310575PMC
December 2018
1 Read

Red-flag sepsis and SOFA identifies different patient population at risk of sepsis-related deaths on the general ward.

Medicine (Baltimore) 2018 Dec;97(49):e13238

Department of Anaesthesia, Intensive Care and Pain Medicine, Division of Population Medicine, Cardiff University, Heath Park Campus, Cardiff.

Controversy exists regarding the best diagnostic and screening tool for sepsis outside the intensive care unit (ICU). Sequential organ failure assessment (SOFA) score has been shown to be superior to systemic inflammatory response syndrome (SIRS) criteria, however, the performance of "Red Flag sepsis criteria" has not been tested formally.The aim of the study was to investigate the ability of Red Flag sepsis criteria to identify the patients at high risk of sepsis-related death in comparison to SOFA based sepsis criteria. Read More

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http://dx.doi.org/10.1097/MD.0000000000013238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310498PMC
December 2018
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Periods of high dengue transmission defined by rainfall do not impact efficacy of dengue vaccine in regions of endemic disease.

PLoS One 2018 13;13(12):e0207878. Epub 2018 Dec 13.

Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.

Objective: To evaluate the association of rainy season with overall dengue disease incidence and with the efficacy of the Sanofi Pasteur recombinant, live, attenuated, tetravalent vaccine (CYD-TDV) in two randomized, controlled multicenter phase III clinical trials in Asia and Latin America.

Methods: Rainy seasons were defined for each study site using climatological information from the World Meteorological Organization. The dengue attack rate in the placebo group for each study month was calculated as the number of symptomatic, virologically-confirmed dengue events in a given month divided by the number of participants at risk in the same month. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207878PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292612PMC
December 2018

The European research collaboration for Children's Interstitial Lung Disease (ChILDEU) ERS Clinical Research Collaboration.

Eur Respir J 2018 Dec 6;52(6). Epub 2018 Dec 6.

Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1183/13993003.01855-2018DOI Listing
December 2018
7 Reads

Dasatinib is preferentially active in the activated B-cell subtype of diffuse large B-cell lymphoma.

J Proteome Res 2018 Dec 12. Epub 2018 Dec 12.

Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous disease, with at least one-third of its patients relapsing after treatment with the current chemotherapy regimen, R-CHOP. By gene expression profiling, patients with DLBCL can be categorized into two clinically relevant subtypes: activated B-cell (ABC) and germinal center B-cell (GCB) DLBCL. Patients with the ABC subtype have a poorer prognosis than those with GCB, and are defined by chronic, overactive signaling through the B-cell receptor and NF-κB pathways. Read More

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http://pubs.acs.org/doi/10.1021/acs.jproteome.8b00841
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http://dx.doi.org/10.1021/acs.jproteome.8b00841DOI Listing
December 2018
2 Reads

Updates on the use of intravesical therapies for non-muscle invasive bladder cancer: how, when and what.

World J Urol 2018 Dec 7. Epub 2018 Dec 7.

H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.

Introduction: Intravesical therapy has been an important aspect of the management of non-muscle invasive bladder cancer (NMIBC) for 40 years. Bacillus Calmette-Guerin (BCG) is considered standard of care for intermediate and high-grade non-invasive disease, yet understanding the nuances of subsequent intravesical therapy is important for any provider managing bladder cancer. Herein, we review the literature and describe optimal use of intravesical therapies for NMIBC. Read More

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http://link.springer.com/10.1007/s00345-018-2591-1
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http://dx.doi.org/10.1007/s00345-018-2591-1DOI Listing
December 2018
7 Reads

GABA-modulating bacteria of the human gut microbiota.

Nat Microbiol 2018 Dec 10. Epub 2018 Dec 10.

Antimicrobial Discovery Center, Department of Biology, Northeastern University, Boston, MA, USA.

The gut microbiota affects many important host functions, including the immune response and the nervous system. However, while substantial progress has been made in growing diverse microorganisms of the microbiota, 23-65% of species residing in the human gut remain uncultured, which is an obstacle for understanding their biological roles. A likely reason for this unculturability is the absence in artificial media of key growth factors that are provided by neighbouring bacteria in situ. Read More

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http://www.nature.com/articles/s41564-018-0307-3
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http://dx.doi.org/10.1038/s41564-018-0307-3DOI Listing
December 2018
7 Reads

Benzene Exposure Response and Risk of Myeloid Neoplasms in Chinese Workers: A Multicenter Case-Cohort Study.

J Natl Cancer Inst 2018 Dec 6. Epub 2018 Dec 6.

Nanchang Center for Disease Control and Prevention, Nanchang, China.

Background: There is international consensus that benzene exposure is causally related to acute myeloid leukemia (AML), and more recent evidence of association with myelodysplastic syndromes (MDS). However, there are uncertainties about the exposure response, particularly risks by time since exposure and age at exposure.

Methods: In a case-cohort study in 110 631 Chinese workers followed up during 1972-1999 we evaluated combined MDS/AML (n = 44) and chronic myeloid leukemia (n = 18). Read More

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http://dx.doi.org/10.1093/jnci/djy143DOI Listing
December 2018
21 Reads

Long-term safety and activity of axicabtagene ciloleucel in refractory large B-cell lymphoma (ZUMA-1): a single-arm, multicentre, phase 1-2 trial.

Lancet Oncol 2019 Jan 2;20(1):31-42. Epub 2018 Dec 2.

University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Background: Axicabtagene ciloleucel is an autologous anti-CD19 chimeric antigen receptor (CAR) T-cell therapy. In the previous analysis of the ZUMA-1 registrational study, with a median follow-up of 15·4 months (IQR 13·7-17·3), 89 (82%) of 108 assessable patients with refractory large B-cell lymphoma treated with axicabtagene ciloleucel achieved an objective response, and complete responses were noted in 63 (58%) patients. Here we report long-term activity and safety outcomes of the ZUMA-1 study. Read More

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http://dx.doi.org/10.1016/S1470-2045(18)30864-7DOI Listing
January 2019
10 Reads
24.690 Impact Factor

Medication Management Capacity and Its Neurocognitive Correlates in Huntington's Disease.

Arch Clin Neuropsychol 2018 Dec 5. Epub 2018 Dec 5.

Department of Psychology, Washington State University, Pullman, WA, USA.

Objective: Although medication management is a necessary daily activity for individuals with Huntington's disease (HD), medication management abilities and their relation to cognitive functioning have not been evaluated.

Method: Twenty individuals with HD and 20 healthy adults (HA) completed the Medication Management Abilities Assessment (MMAA). Individuals with HD also completed a self-report medication management measure and neuropsychological tests assessing executive function, retrospective memory, and prospective memory. Read More

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http://dx.doi.org/10.1093/arclin/acy093DOI Listing
December 2018
7 Reads

The diagnostic performance of a simplified blood test (SteatoTest-2) for the prediction of liver steatosis.

Eur J Gastroenterol Hepatol 2019 03;31(3):393-402

Department of Hepatology, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital.

Background: Serum biomarkers of steatosis such as the SteatoTest are recommended for large-scale screening studies, because imaging is less accessible and more expensive.

Aims: The primary aim of this retrospective analysis of prospective studies was to construct a new SteatoTest-2 that was not inferior to the reference first-generation SteatoTest, but that did not include BMI or bilirubin, as these two components can increase test variability because of the assessment of weight and height and in case of Gilbert syndrome or hemolysis, respectively.

Patients And Methods: Five different subsets of 2997 patients with biopsies were evaluated for test construction and validation, and four to assess the prevalence of steatosis in target populations with increasing risks of steatosis. Read More

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http://dx.doi.org/10.1097/MEG.0000000000001304DOI Listing

Harnessing soft tissue sarcoma with low-dose pazopanib - a matter of blood levels.

BMC Cancer 2018 Dec 3;18(1):1200. Epub 2018 Dec 3.

Department of Medical Oncology and Clinical Pharmacology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek, Amsterdam, The Netherlands.

Background: Pazopanib is a tyrosine kinase inhibitor indicated for the treatment of renal cell carcinoma and soft tissue sarcoma. Despite the high inter-patient variability in pharmacokinetic exposure, pazopanib is administered at a fixed dose of 800 mg once daily (QD). Pharmacokinetic exposure is linked to both efficacy and toxicity. Read More

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http://dx.doi.org/10.1186/s12885-018-5043-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276240PMC
December 2018
1 Read