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https://www.readbyqxmd.com/read/28428742/a-set-based-mixed-effect-model-for-gene-environment-interaction-and-its-application-to-neuroimaging-phenotypes
#1
Changqing Wang, Jianping Sun, Bryan Guillaume, Tian Ge, Derrek P Hibar, Celia M T Greenwood, Anqi Qiu
Imaging genetics is an emerging field for the investigation of neuro-mechanisms linked to genetic variation. Although imaging genetics has recently shown great promise in understanding biological mechanisms for brain development and psychiatric disorders, studying the link between genetic variants and neuroimaging phenotypes remains statistically challenging due to the high-dimensionality of both genetic and neuroimaging data. This becomes even more challenging when studying gene-environment interaction (G×E) on neuroimaging phenotypes...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28416463/glucocorticoids-activate-a-synapse-weakening-pathway-culminating-in-tau-phosphorylation-in-the-hippocampus
#2
Jee Hyun Yi, Christopher Brown, Garry Whitehead, Thomas Piers, Young Seok Lee, Celia Martinez Perez, Philip Regan, Daniel J Whitcomb, Kwangwook Cho
Evidence suggests that the stress hormones glucocorticoids (GCs) can cause cognitive deficits and neurodegeneration. Previous studies have found GCs facilitate physiological synapse weakening, termed long-term depression (LTD), though the precise mechanisms underlying this are poorly understood. Here we show that GCs activate glycogen synthase kinase-3 (GSK-3), a kinase crucial to synapse weakening signals. Critically, this ultimately leads to phosphorylation of the microtubule associated protein tau, specifically at the serine 396 residue, and this is a causal factor in the GC-mediated impairment of synaptic function...
April 14, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28416347/blood-collection-vials-and-clinically-used-intravenous-fluids-contain-significant-amounts-of-nitrite
#3
Luis E F Almeida, Sayuri Kamimura, Margaret Y Nettleton, Celia M de Souza Batista, Elizabeth Walek, Alfia Khaibullina, Li Wang, Zenaide M N Quezado
The biology of the inorganic anion nitrite is linked to nitric oxide (NO) as nitrite can be reduced to NO and mediate its biological activities. Thus, studies of nitrite biology require sensitive and selective chemical assays. The acetic and ascorbic acids method is selective for nitrite and measures it in biological matrices. However, one of the pitfalls of nitrite measurements is its ubiquitous presence in sample collection tubes. Here, we showed high levels of nitrite in collection tubes containing EDTA, sodium citrate or sodium heparin and smaller amounts in tubes containing lithium heparin or serum clot activator...
April 14, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28413713/catastrophic-outcome-of-patients-with-a-rebound-after-natalizumab-treatment-discontinuation
#4
Inés González-Suarez, Luis Rodríguez de Antonio, Aida Orviz, Sara Moreno-García, María D Valle-Arcos, Jordi A Matias-Guiu, Cristina Valencia, Manuela Jorquera Moya, Celia Oreja-Guevara
INTRODUCTION: Natalizumab (NTZ) is an effective drug for the treatment of relapsing-remitting multiple sclerosis. In some patients discontinuation is mandatory due to the risk of progressive multifocal leukoencephalopathy. However, severe clinical and radiological worsening has been described after drug cessation. Our aim was to describe the clinical and radiological features of the rebound phenomenon. MATERIAL AND METHODS: Patients switched from NTZ to Fingolimod (FTY) who had presented a rebound after discontinuation were selected...
April 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28399423/bone-mineral-density-and-vitamin-d-concentration-the-challenges-in-taking-care-of-children-and-adolescents-infected-with-hiv
#5
Fabiana Bononi Carmo, Maria Teresa Terreri, Regina Célia de Menezes Succi, Suenia Vasconcelos Beltrão, Aida de Fátima Tomé Barbosa Gouvea, Erica Regina Cruz Paulino, Daisy Maria Machado
The increase in life expectancy for patients living with human immunodeficiency virus (HIV) infection has resulted in health complications related to a chronic disease. OBJECTIVES: To evaluate the prevalence of bone mineral density (BMD) alterations and vitamin D concentrations in HIV-infected children and adolescents and to verify the variations in those parameters during a 12-month interval. METHODS: A prospective cohort study with a dual period of evaluation was conducted in 57 patients perinatally HIV-infected and one patient with sexual abuse in early infancy...
April 8, 2017: Brazilian Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28390853/familial-hypercholesterolemia-in-childhood-and-adolescents-a-hidden-reality
#6
Núria Plana, Cèlia Rodríguez-Borjabad, Daiana Ibarretxe, Lluís Masana
Familial hypercholesterolemia (FH) is the most common genetic disorder in childhood, but in most cases is not detected. High levels of low-density lipoprotein cholesterol are present since the child's birth and this fact will suppose silent development of early atherosclerosis. In cases of homozygous FH, the coronary disease will appear before 20s and in cases of heterozygous FH will occur in middle age. Despite published data, there is not agreement about how and when perform the screening. Familial history of early cardiovascular disease plus presence of hypercholesterolemia in parents is crucial for detection and diagnosis...
April 5, 2017: Clínica e Investigación en Arteriosclerosis
https://www.readbyqxmd.com/read/28387599/novel-insights-into-systemic-autoimmune-rheumatic-diseases-using-shared-molecular-signatures-and-an-integrative-analysis
#7
Marie Hudson, Sasha Bernatsky, Ines Colmegna, Maximilien Lora, Tomi Pastinen, Kathleen Klein Oros, Celia M T Greenwood
We undertook this study to identify DNA methylation signatures of three systemic autoimmune rheumatic diseases (SARDs), namely rheumatoid arthritis, systemic lupus erythematosus, and systemic sclerosis, compared to healthy controls. Using a careful design to minimize confounding, we restricted our study to subjects with incident disease and performed our analyses on purified CD4(+) T cells, key effector cells in SARD. We identified differentially methylated (using the Illumina Infinium HumanMethylation450 BeadChip array) and expressed (using the Illumina TruSeq stranded RNA-seq protocol) sites between cases and controls, and investigated the biological significance of this SARD signature using gene annotation databases...
April 7, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28382837/long-term-disability-trajectories-in-primary-progressive-ms-patients-a-latent-class-growth-analysis
#8
Alessio Signori, Guillermo Izquierdo, Alessandra Lugaresi, Raymond Hupperts, Francois Grand'Maison, Patrizia Sola, Dana Horakova, Eva Havrdova, Alexandre Prat, Marc Girard, Pierre Duquette, Cavit Boz, Pierre Grammond, Murat Terzi, Bhim Singhal, Raed Alroughani, Thor Petersen, Cristina Ramo, Celia Oreja-Guevara, Daniele Spitaleri, Vahid Shaygannejad, Helmut Butzkueven, Tomas Kalincik, Vilija Jokubaitis, Mark Slee, Ricardo Fernandez Bolaños, Jose Luis Sanchez-Menoyo, Eugenio Pucci, Franco Granella, Jeannette Lechner-Scott, Gerardo Iuliano, Stella Hughes, Roberto Bergamaschi, Bruce Taylor, Freek Verheul, Maria Edite Rio, Maria Pia Amato, Seyed Aidin Sajedi, Nastaran Majdinasab, Vincent Van Pesch, Maria Pia Sormani, Maria Trojano
BACKGROUND: Several natural history studies on primary progressive multiple sclerosis (PPMS) patients detected a consistent heterogeneity in the rate of disability accumulation. OBJECTIVES: To identify subgroups of PPMS patients with similar longitudinal trajectories of Expanded Disability Status Scale (EDSS) over time. METHODS: All PPMS patients collected within the MSBase registry, who had their first EDSS assessment within 5 years from onset, were included in the analysis...
April 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28380134/quality-of-life-score-as-a-predictor-of-death-in-dogs-with-degenerative-mitral-valve-disease
#9
Célia M C Strunz, Mário Marcondes-Santos, Julio Yoshio Takada, Fernanda S Fragata, Antônio de Pádua Mansur
Background: The knowledge of the variables predicting mortality is important in clinical practice and for therapeutic monitoring in mitral valve disease. Objectives: To determine whether a quality of life score evaluated with the Functional Evaluation of Cardiac Health questionnaire would predict mortality in dogs with degenerative mitral valve disease (DMVD). Methods: Thirty-six client-owned dogs with mitral valve disease underwent clinical, laboratory, and echocardiographic evaluations at baseline and were monitored for 6 months...
March 30, 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28373276/polycystic-kidney-disease-with-hyperinsulinemic-hypoglycemia-caused-by-a-promoter-mutation-in-phosphomannomutase-2
#10
Oscar Rubio Cabezas, Sarah E Flanagan, Horia Stanescu, Elena García-Martínez, Richard Caswell, Hana Lango-Allen, Montserrat Antón-Gamero, Jesús Argente, Anna-Marie Bussell, Andre Brandli, Chris Cheshire, Elizabeth Crowne, Simona Dumitriu, Robert Drynda, Julian P Hamilton-Shield, Wesley Hayes, Alexis Hofherr, Daniela Iancu, Naomi Issler, Craig Jefferies, Peter Jones, Matthew Johnson, Anne Kesselheim, Enriko Klootwijk, Michael Koettgen, Wendy Lewis, José María Martos, Monika Mozere, Jill Norman, Vaksha Patel, Andrew Parrish, Celia Pérez-Cerdá, Jesús Pozo, Sofia A Rahman, Neil Sebire, Mehmet Tekman, Peter D Turnpenny, William Van't Hoff, Daan H H M Viering, Michael N Weedon, Patricia Wilson, Lisa Guay-Woodford, Robert Kleta, Khalid Hussain, Sian Ellard, Detlef Bockenhauer
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic disorder. Whole-genome linkage analysis in five informative families identified a single significant locus on chromosome 16p13.2 (logarithm of odds score 6.5). Sequencing of the coding regions of all linked genes failed to identify biallelic mutations. Instead, we found in all patients a promoter mutation (c...
April 3, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28371797/real-life-effectiveness-of-golimumab-in-biologic-na%C3%A3-ve-patients-with-rheumatoid-arthritis-data-from-the-rheumatic-diseases-portuguese-register-reuma-pt
#11
Ana Filipa Mourão, Célia Ribeiro, Joana Borges, Maria João Gonçalves, Miguel Bernardes, Susana Fernandes, Raquel Dezerto, Pedro Laires, Patrícia Machado, Mónica Eusébio, Maria José Santos, Helena Canhão
OBJECTIVES: To assess the effectiveness of subcutaneous Golimumab 50 mg/monthly combined with methotrexate (SC GLM + MTX) over 52 weeks of treatment, in biologic-naïve RA patients, in a multicentre nationwide cohort from the Rheumatic Diseases Portuguese Register (Reuma.pt). METHODS: Data for this observational study was collected from March 2011 to August 2015. Disease activity (DAS28), functional capacity (HAQ) and Patient Global Disease Assessment (PGDA) were measured at baseline and weeks 12, 24 and 52 of treatment...
February 18, 2017: Acta Reumatológica Portuguesa
https://www.readbyqxmd.com/read/28366187/ictv-virus-taxonomy-profile-potyviridae
#12
Stephen J Wylie, Mike Adams, Celia Chalam, Jan Kreuze, Juan José López-Moya, Kazusato Ohshima, Shelly Praveen, Frank Rabenstein, Drake Stenger, Aiming Wang, F Murilo Zerbini, Ictv Report Consortium
The Potyviridae is the largest family of RNA plant viruses, members of which have single-stranded, positive-sense RNA genomes and flexuous filamentous particles 680-900 nm long and 11-20 nm wide. There are eight genera, distinguished by the host range, genomic features and phylogeny of the member viruses. Genomes range from 8.2 to 11.3 kb, with an average size of 9.7 kb. Most genomes are monopartite but those of members of the genus Bymovirus are bipartite. Some members cause serious disease epidemics in cultivated plants...
March 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28357061/oral-mucositis-caused-by-candida-glabrata-biofilms-failure-of-the-concomitant-use-of-fluconazole-and-ascorbic-acid
#13
Célia F Rodrigues, Mariana Henriques
OBJECTIVES: Candida glabrata is becoming one of the most prevalent pathogenic yeasts in cases of oral diseases. Mucositis is an recurrent oral infection in immunocompromised patients, and the actual guidelines recommend the use of fluconazole (Flu) for many cases. However, the azole resistance by C. glabrata is renowned, causing a reduced therapeutic response, especially when it occurs in biofilms. In this study, we performed an in vitro evaluation of an alternative pharmacotherapy for C...
January 2017: Therapeutic Advances in Infectious Disease
https://www.readbyqxmd.com/read/28351757/nanotechnological-strategies-for-nerve-growth-factor-delivery-therapeutic-implications-in-alzheimer-s-disease
#14
REVIEW
Célia Faustino, Patrícia Rijo, Catarina Pinto Reis
Alzheimer's disease (AD) is a progressive neurodegenerative disorder associated with amyloid-β peptide misfolding and aggregation. Neurotrophic factors, such as nerve growth factor (NGF), can prevent neuronal damage and rescue the cholinergic neurons that undergo cell death in AD, reverse deposition of extracellular amyloid plaques and improve cognitive deficits. However, NGF administration is hampered by the poor pharmacokinetic profile of the therapeutic protein and its inability to cross the blood-brain barrier, which requires specialised drug delivery systems (DDS) for efficient NGF delivery to the brain...
March 27, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28351445/clinical-evaluation-of-brief-cognitive-assessment-measures-for-patients-with-severe-dementia
#15
Jasmine S Dixon, Deborah G Saddington, Celia J Shiles, Kavya P Sreevalsan, Cynthia A Munro, Paul B Rosenberg
BACKGROUND: Alzheimer's disease has become an important public health burden for older adults. Clinicians face a challenging task to efficiently evaluate cognition in dementia in clinical settings. We sought to assess the validity and inter-correlations of brief cognitive assessments in a cohort of severely demented patients. METHODS: In total, 49 individual patients (N = 49) ranging in age from 62 to 97 years old were included in this performance improvement project...
March 29, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28333923/interdisciplinary-approach-at-the-primary-healthcare-level-for-bolivian-immigrants-with-chagas-disease-in-the-city-of-s%C3%A3-o-paulo
#16
Maria Aparecida Shikanai Yasuda, Camila Gonçalves Sátolo, Noemia Barbosa Carvalho, Magda Maya Atala, Rosario Quiroga Ferrufino, Ruth Moreira Leite, Célia Regina Furucho, Expedito Luna, Rubens Antonio Silva, Marcia Hage, Caroline Medeji Ramos de Oliveira, Felipe Delatorre Busser, Vera Lucia Teixeira de Freitas, Dalva Marli Valerio Wanderley, Luzia Martinelli, Sonia Regina Almeida, Pedro Albajar Viñas, Nivaldo Carneiro
BACKGROUND/METHODS: In a pioneering cross-sectional study among Bolivian immigrants in the city of São Paulo, Brazil, the epidemiological profile, clinical manifestations and morbidity of Chagas disease were described. The feasibility of the management of Chagas disease at primary healthcare clinics using a biomedical and psychosocial interdisciplinary approach was also tested. Previously, a Trypanosoma cruzi (T. cruzi) infection rate of 4.4% among 633 immigrants was reported. The samples were screened using two commercial enzyme-linked immunoassay (ELISA) tests generated with epimastigote antigens, and those with discrepant or seropositive results were analyzed by confirmatory tests: indirect immunofluorescence (IFI), TESA-blot and a commercial recombinant ELISA...
March 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28333874/successful-treatment-of-autoimmune-disease-associated-pyoderma-gangrenosum-with-the-il-1-receptor-antagonist-anakinra-a-case-series-of-3-patients
#17
Celia Beynon, Mei Fong Chin, Prasad Hunasehally, Krishnan Bhagwandas, Martin Bevan, Marisa Taylor, Thomas Lawson
No abstract text is available yet for this article.
April 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28324972/analysis-of-spontaneous-eeg-activity-in-alzheimer-s-disease-using-cross-sample-entropy-and-graph-theory
#18
Carlos Gomez, Jesus Poza, Javier Gomez-Pilar, Alejandro Bachiller, Celia Juan-Cruz, Miguel A Tola-Arribas, Alicia Carreres, Monica Cano, Roberto Hornero
The aim of this pilot study was to analyze spontaneous electroencephalography (EEG) activity in Alzheimer's disease (AD) by means of Cross-Sample Entropy (Cross-SampEn) and two local measures derived from graph theory: clustering coefficient (CC) and characteristic path length (PL). Five minutes of EEG activity were recorded from 37 patients with dementia due to AD and 29 elderly controls. Our results showed that Cross-SampEn values were lower in the AD group than in the control one for all the interactions among EEG channels...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28322918/favipiravir-can-evoke-lethal-mutagenesis-and-extinction-of-foot-and-mouth-disease-virus
#19
Ana Isabel de Avila, Elena Moreno, Celia Perales, Esteban Domingo
Antiviral agents are increasingly considered an option for veterinary medicine. An understanding of their mechanism of activity is important to plan their administration either as monotherapy or in combination with other agents. Previous studies have shown that the broad spectrum antiviral agent favipiravir (T-705) and its derivatives T-1105 and T-1106 are efficient inhibitors of foot-and-mouth disease virus (FMDV) replication in cell culture and in vivo. However, no mechanism for their activity against FMDV has been proposed...
March 18, 2017: Virus Research
https://www.readbyqxmd.com/read/28302638/innovative-approach-for-self-management-and-social-welfare-of-children-with-cystic-fibrosis-in-europe-development-validation-and-implementation-of-an-mhealth-tool-mycyfapp
#20
Joaquim Calvo-Lerma, Celia P Martinez-Jimenez, Juan-Pablo Lázaro-Ramos, Ana Andrés, Paula Crespo-Escobar, Erlend Stav, Cornelia Schauber, Lucia Pannese, Jessie M Hulst, Lucrecia Suárez, Carla Colombo, Celeste Barreto, Kris de Boeck, Carmen Ribes-Koninckx
INTRODUCTION: For the optimal management of children with cystic fibrosis, there are currently no efficient tools for the precise adjustment of pancreatic enzyme replacement therapy, either for advice on appropriate dietary intake or for achieving an optimal nutrition status. Therefore, we aim to develop a mobile application that ensures a successful nutritional therapy in children with cystic fibrosis. METHODS AND ANALYSIS: A multidisciplinary team of 12 partners coordinate their efforts in 9 work packages that cover the entire so-called 'from laboratory to market' approach by means of an original and innovative co-design process...
March 16, 2017: BMJ Open
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