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Groves disease

Elizabeth A Mauldin, Debra Crumrine, Margret L Casal, Sekyoo Jeong, Lukáš Opálka, Katerina Vavrova, Yoshikazu Uchida, Kyungho Park, Brittany Craiglow, Keith A Choate, Kyong-Oh Shin, Yong-Moon Lee, Gary L Grove, Joan S Wakefield, Denis Khnykin, Peter M Elias
Mutations in several lipid synthetic enzymes that block fatty acid and ceramide production produce autosomal recessive congenital ichthyosis (ARCI) and associated abnormalities in permeability barrier homeostasis. Yet, the basis for the phenotype in patients with NIPAL4 (ichthyin) mutations (among the most prevalent ARCI) remains unknown. Barrier function was abnormal in an index patient and in canines with homozygous NIPAL4 mutations, attributable to extensive membrane stripping, likely from detergent effects of nonesterified free FFA...
March 13, 2018: American Journal of Pathology
Amanda L Gentry, Susan M Sereika, Frances E Casillo, Mary E Crisafio, Patrick T Donahue, George A Grove, Anna L Marsland, Jennifer C Watt, Catherine M Bender
The Exercise Program in Cancer and Cognition (EPICC) Study is a randomized controlled trial designed to test the effects of moderate-intensity aerobic exercise on cognitive function in postmenopausal women with early-stage breast cancer during the first six months of aromatase inhibitor therapy. It is estimated that up to 75% of survivors of breast cancer experience cognitive impairment related to disease and treatment. At present, there are no known interventions to improve or manage cognitive function for women with breast cancer...
February 28, 2018: Contemporary Clinical Trials
Jane I Grove, Prarthana Thiagarajan, Stuart Astbury, Rebecca Harris, Toby Delahooke, I Neil Guha, Guruprasad P Aithal
BACKGROUND & AIMS: Chronic liver disease presents a major global public health challenge. Stratification of asymptomatic, at-risk patients in primary care using non-invasive methods has the potential to address this by identifying those likely to progress. We therefore evaluated variant alleles at loci associated with non-alcoholic fatty liver disease (NAFLD) as genetic determinants of substantial liver injury in patients with disease risk factors. METHODS: Levels of serum procollagen III (PIIINP), an established fibrosis and steatohepatitis marker, were determined in 467 people who had type 2 diabetes and/or BMI>27...
March 1, 2018: Liver International: Official Journal of the International Association for the Study of the Liver
Maja H Fisker, Niels E Ebbehøj, Søren Grove Vejlstrup, Jane Lindschou, Christian Gluud, Per Winkel, Jens Peter Bonde, Tove Agner
Objective Occupational hand eczema has adverse health and socioeconomic impacts for the afflicted individuals and society. Prevention and treatment strategies are needed. This study aimed to assess the effectiveness of an educational intervention on sickness absence, quality of life and severity of hand eczema. Methods PREVEX (PreVention of EXema) is an individually randomized, parallel-group superiority trial investigating the pros and cons of one-time, 2-hour, group-based education in skin-protective behavior versus treatment as usual among patients with newly notified occupational hand eczema, with follow-up after one year...
March 1, 2018: Scandinavian Journal of Work, Environment & Health
Helen T Groves, Leah Cuthbertson, Phillip James, Miriam F Moffatt, Michael J Cox, John S Tregoning
Alterations in the composition of the gut microbiota have profound effects on human health. Consequently, there is great interest in identifying, characterizing, and understanding factors that initiate these changes. Despite their high prevalence, studies have only recently begun to investigate how viral lung infections have an impact on the gut microbiota. There is also considerable interest in whether the gut microbiota could be manipulated during vaccination to improve efficacy. In this highly controlled study, we aimed to establish the effect of viral lung infection on gut microbiota composition and the gut environment using mouse models of common respiratory pathogens respiratory syncytial virus (RSV) and influenza virus...
2018: Frontiers in Immunology
Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez, Jean M Davidson, Jennifer E Kyle, Megan E Grove, Dianna G Fisk, Jennefer N Kohler, Matthew Holmes, Annika M Dries, Yong Huang, Chunli Zhao, Kévin Contrepois, Zachary Zappala, Laure Frésard, Daryl Waggott, Erika M Zink, Young-Mo Kim, Heino M Heyman, Kelly G Stratton, Bobbie-Jo M Webb-Robertson, Michael Snyder, Jason D Merker, Stephen B Montgomery, Paul G Fisher, René G Feichtinger, Johannes A Mayr, Julie Hall, Ines A Barbosa, Michael A Simpson, Charu Deshpande, Katrina M Waters, David M Koeller, Thomas O Metz, Andrew A Morris, Susan Schelley, Tina Cowan, Marisa W Friederich, Robert McFarland, Johan L K Van Hove, Gregory M Enns, Shinya Yamamoto, Euan A Ashley, Michael F Wangler, Robert W Taylor, Hugo J Bellen, Jonathan A Bernstein, Matthew T Wheeler
ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia. Subject 1, homozygous for c.245C>T (p.Pro82Leu), presented with recurrent metabolic decompensation starting in the neonatal period, and subject 2, homozygous for c...
February 16, 2018: American Journal of Human Genetics
Casmir E Amadi, Tim P Grove, Amam C Mbakwem, Obianuju B Ozoh, Oyewole A Kushimo, David A Wood, Michael Akinkunmi
BACKGROUND: Professional drivers are known to be at high risk of cardiovascular disease (CVD). This study was carried out to highlight these risk factors and their predictors among male long-distance professional bus drivers in Lagos, south-west Nigeria, with a view to improving health awareness in this group. METHOD: Socio-demographic data, anthropometric indices, blood pressure, fasting plasma blood glucose levels and lipid and physical activity profiles of 293 drivers were measured...
February 19, 2018: Cardiovascular Journal of Africa
Liang Guo, Hirokuni Akahori, Emanuel Harari, Samantha L Smith, Rohini Polavarapu, Vinit Karmali, Fumiyuki Otsuka, Rachel L Gannon, Ryan E Braumann, Megan H Dickinson, Anuj Gupta, Audrey L Jenkins, Michael J Lipinski, Johoon Kim, Peter Chhour, Paul S de Vries, Hiroyuki Jinnouchi, Robert Kutys, Hiroyoshi Mori, Matthew D Kutyna, Sho Torii, Atsushi Sakamoto, Cheol Ung Choi, Qi Cheng, Megan L Grove, Mariem A Sawan, Yin Zhang, Yihai Cao, Frank D Kolodgie, David P Cormode, Dan E Arking, Eric Boerwinkle, Alanna C Morrison, Jeanette Erdmann, Nona Sotoodehnia, Renu Virmani, Aloke V Finn
Intake of hemoglobin by the hemoglobin-haptoglobin receptor CD163 leads to a distinct alternative non-foam cell antiinflammatory macrophage phenotype that was previously considered atheroprotective. Here, we reveal an unexpected but important pathogenic role for these macrophages in atherosclerosis. Using human atherosclerotic samples, cultured cells, and a mouse model of advanced atherosclerosis, we investigated the role of intraplaque hemorrhage on macrophage function with respect to angiogenesis, vascular permeability, inflammation, and plaque progression...
February 19, 2018: Journal of Clinical Investigation
Helen T Groves, Jacqueline U McDonald, Pinky Langat, Ekaterina Kinnear, Paul Kellam, John McCauley, Joanna Ellis, Catherine Thompson, Ruth Elderfield, Lauren Parker, Wendy Barclay, John S Tregoning
Influenza virus infection is a significant cause of morbidity and mortality worldwide. The surface antigens of influenza virus change over time blunting both naturally acquired and vaccine induced adaptive immune protection. Viral antigenic drift is a major contributing factor to both the spread and disease burden of influenza. The aim of this study was to develop better infection models using clinically relevant, influenza strains to test vaccine induced protection. CB6F1 mice were infected with a range of influenza viruses and disease, inflammation, cell influx, and viral load were characterized after infection...
2018: Frontiers in Immunology
G Curtis, C McGregor Argo, D Jones, D Grove-White
Contentious issues in calf rearing include milk feeding practices and single versus group housing. The current study was performed on a high producing 170 Holstein cow dairy farm, to investigate the impact of nutrition and housing on growth and reproduction. Heifer calves (n = 100) were allocated in birth order to one of two commonly used management strategies. All calves received 3-4 litres of dam specific colostrum within 6 hours of birth. Group A calves were group housed from birth and fed milk replacer (MR) ad libitum via a computerised machine utilising a single teat, with weaning commencing at 63 days of age...
2018: PloS One
Ian J Groves, Nicholas Coleman
Human papillomavirus (HPV) infection is associated with ~5% of all human cancers, including a range of squamous cell carcinomas (SCCs). Persistent infection by high-risk HPVs (HRHPVs) is associated with the integration of virus genomes (which are usually stably maintained as extrachromosomal episomes) into host chromosomes. Although HRHPV integration rates differ across human sites of infection, this process appears to be an integral event in HPV-associated neoplastic progression, leading to deregulation of virus oncogene expression, host gene expression modulation and further genomic instability...
February 14, 2018: Journal of Pathology
Dedee F Murrell, Sandra Peña, Pascal Joly, Branka Marinovic, Takashi Hashimoto, Luis A Diaz, Animesh A Sinha, Aimee S Payne, Maryam Daneshpazhooh, Rüdiger Eming, Marcel F Jonkman, Daniel Mimouni, Luca Borradori, Soo-Chan Kim, Jun Yamagami, Julia S Lehman, Marwah Adly Saleh, Donna A Culton, Annette Czernik, John J Zone, David Fivenson, Hideyuki Ujiie, Katarzyna Wozniak, Ayşe Akman-Karakaş, Philippe Bernard, Neil J Korman, Frédéric Caux, Kossara Drenovska, Catherine Prost-Squarcioni, Snejina Vassileva, Ron J Feldman, Adela Rambi Cardones, Johann Bauer, Dimitrios Ioannides, Hana Jedlickova, Francis Palisson, Aikaterini Patsatsi, Soner Uzun, Savas Yayli, Detlef Zillikens, Masayuki Amagai, Michael Hertl, Enno Schmidt, Valeria Aoki, Sergei A Grando, Hiroshi Shimizu, Sharon Baum, Guiseppe Cianchini, Claudio Feliciani, Pilar Iranzo, Jose M Mascaró, Cezary Kowalewski, Russell Hall, Richard Groves, Karen E Harman, M Peter Marinkovich, Emanual Maverakis, Victoria P Werth
BACKGROUND: Several European countries recently developed international diagnostic and management guidelines for pemphigus, which have been instrumental in the standardization of pemphigus management, OBJECTIVE: We now present results from a subsequent Delphi consensus to broaden the generalizability of recommendations. METHODS: A preliminary survey, based on the European Dermatology Forum (EDF) and the European Academy of Dermatology and Venereology (EADV) guidelines, was sent to a panel of international experts to determine the level of consensus...
February 10, 2018: Journal of the American Academy of Dermatology
J C Klein, M Rolinski, L Griffanti, K Szewczyk-Krolikowski, F Baig, C Ruffmann, A R Groves, R A L Menke, M T Hu, C Mackay
Magnetic resonance imaging (MRI) studies in early Parkinson's disease (PD) have shown promise in the detection of disease-related brain changes in the white and deep grey matter. We set out to establish whether intrinsic cortical involvement in early PD can be detected with quantitative MRI. We collected a rich, multi-modal dataset, including diffusion MRI, T1 relaxometry and cortical morphometry, in 20 patients with early PD (disease duration, 1.9 ± 0.97 years, Hoehn & Yahr 1-2) and in 19 matched controls...
February 13, 2018: NMR in Biomedicine
Joseph William Angell, Dai H Grove-White, Jennifer S Duncan
Footrot is an ovine foot disease of infectious origin and a cause of serious welfare and economic compromise in affected animals and flocks. The development of footrot in sheep is associated with the infectious agent Dichelobacter nodosus, which may invade as a primary pathogen, but the risk of disease is increased following damage to the interdigital skin of the foot. In this study, we used data from six farms in North Wales collected between June 2012 and October 2013 to model the dynamic changes of footrot prevalence over time and investigate the association of footrot with multiple farm, management, environmental and sheep factors...
January 23, 2018: Veterinary Record
B Pandey, R A Naidu, G G Grove
The fungus, Erysiphe necator Schw., is an important plant pathogen causing powdery mildew disease in grapevines worldwide. In this study, high-throughput sequencing of double-stranded RNA extracted from the fungal tissue combined with bioinformatics was used to examine mycovirus-related sequences associated with E. necator. The results showed the presence of eight mycovirus-related sequences. Five of these sequences representing three new mycoviruses showed alignment with sequences of viruses classified in the genus Alphapartitivirus in the family Partitiviridae...
January 22, 2018: Archives of Virology
Amit Levy, Choaa El-Mochtar, Chunxia Wang, Michael Goodin, Vladimir Orbovic
Background: Transient gene expression is a powerful tool to study gene function in plants. In citrus, Agrobacterium transformation is the method of choice for transient expression studies, but this method does not work efficiently with many gene constructs, and there is a need for a more robust transient expression system in citrus leaves. Biolistic particle delivery is an alternative to Agrobacterium transformation, and in some plants, such as Arabidopsis, gives higher transformation rates in leaf tissues than Agrobacterium...
2018: Plant Methods
Jeroen A J M van de Water, Maryam Chaib De Mares, Groves B Dixon, Jean-Baptiste Raina, Bette L Willis, David G Bourne, Madeleine J H van Oppen
Global increases in coral disease prevalence have been linked to ocean warming through changes in coral-associated bacterial communities, pathogen virulence and immune system function. However, the interactive effects of temperature and pathogens on the coral holobiont are poorly understood. Here, we assessed three compartments of the holobiont (host, Symbiodinium, bacterial community) of the coral Montipora aequituberculata challenged with the pathogen Vibrio coralliilyticus and the commensal bacterium Oceanospirillales sp...
January 15, 2018: Molecular Ecology
Eleanor C Wicks, Leon J Menezes, Anna Barnes, Saidi A Mohiddin, Neha Sekhri, Joanna C Porter, Helen L Booth, Emily Garrett, Riyaz S Patel, Menelaos Pavlou, Ashley M Groves, Perry M Elliott
Aims: Cardiac death is the leading cause of mortality in patients with sarcoidosis, yet cardiac involvement often remains undetected. Cardiovascular magnetic resonance imaging (CMR) and 18F-fluorodeoxyglucose (FDG)-positron emission tomography (PET) have been used to diagnose cardiac sarcoidosis (CS) yet never simultaneously in a cohort. This study sought to assess the diagnostic and prognostic utility of simultaneous hybrid cardiac PET/MR. Methods and results: Fifty-one consecutive patients with suspected CS (age 50 ± 13 years, 31 males) underwent simultaneous PET/MR following a high-fat/low-carbohydrate diet and 12-h fast...
January 8, 2018: European Heart Journal Cardiovascular Imaging
Austin Bland, Elizabeth A Harrington, Kyla Dunn, Mitchel Pariani, Julia C K Platt, Megan E Grove, Colleen Caleshu
PurposeTo describe the frequency and nature of differences in variant classifications between clinicians and genetic testing laboratories.MethodsRetrospective review of variants identified through genetic testing ordered in routine clinical care by clinicians in the Stanford Center for Inherited Cardiovascular Disease. We compared classifications made by clinicians, the testing laboratory, and other laboratories in ClinVar.ResultsOf 688 laboratory classifications, 124 (18%) differed from the clinicians' classifications...
December 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Tarun K Mittal, Christine L Cleghorn, Janet E Cade, Suzanne Barr, Tim Grove, Paul Bassett, David A Wood, Kornelia Kotseva
Background A high prevalence of stress-related disorders is well known among healthcare professionals. We set out to assess the prevalence of cardiovascular risk factors and compliance with national dietary and physical activity recommendations in NHS staff in the UK with comparison between clinical and non-clinical staff, and national surveys. Design A multi-centre cross-sectional study. Methods A web-based questionnaire was developed to include anonymised data on demographics, job role, cardiovascular risk factors and diseases, dietary habits, physical activity and barriers towards healthy lifestyle...
March 2018: European Journal of Preventive Cardiology
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