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moya moya disease

Rocío-Nur Villar-Quiles, Celia Delgado-Suárez, Manuela Jorquera-Moya, Javier Arpa-Gutiérrez, Gloria Ortega-Suero
No abstract text is available yet for this article.
March 20, 2018: Neurology
D Evrard, E Routier, C Mateus, G Tomasic, J Lombroso, F Kolb, C Robert, A Moya-Plana
PURPOSE: Sentinel lymph node biopsy (SLNB) is now a standard of care for cutaneous melanoma, but it is still controversial for cutaneous head and neck melanoma (CHNM). This study aims to confirm the feasibility, accuracy and low morbidity of SLNB in CHNM and evaluate its prognostic value. METHODS: A monocentric and retrospective study on patients with CHNM treated in our tertiary care center (Gustave Roussy) between January 2008 and December 2012 was performed. The feasibility, morbidity and prognostic value of this technique were analysed...
March 19, 2018: European Archives of Oto-rhino-laryngology
D Valenzuela, F Moya, M Luco, J L Tapia
50 years ago, Northway described Broncopulmonary Dysplasia (BPD) in preterm infants exposed to mechanical ventilation. Since then, their survival has increased, nevertheless a "new BPD" has appeared and its incidence has not diminished. One of the characteristics of this pathology is the the abnormal vascular remodeling, which in its most severe expression is known as Pulmonary Hyper tension (PH); with an incidence of 17% in patients with BPD, which is proportional to the severity of the disease (33% in severe BPD), and as mortality factor (up to 48% 2-year mortality in PH-BPD)...
December 2017: Revista Chilena de Pediatría
A M Rose, A Krishan, C F Chakarova, L Moya, S Chambers, M Hollands, J C Illingworth, S M G Williams, H E James, A Z Shah, C N A Palmer, A Chakravarti, J N Berg, J Batra, S S Bhattacharya
Background: MSR1 repeats are a 36-38bp minisatellite element that have recently been implicated in the regulation of gene expression, through copy number variation (CNV). Patients and methods: Bioinformatic and experimental methods were used to assess the distribution of MSR1 across the genome, evaluate the regulatory potential of such elements and explore the role of MSR1 elements in cancer, particularly non-familial breast cancer and prostate cancer. Results: MSR1s are predominately located at chromosome 19 and are functionally enriched in regulatory regions of the genome, particularly regions implicated in short-range regulatory activities (H3K27ac, H3K4me1, and H3K4me3)...
March 2, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
P Brandicourt, L Bonnet, Y Béjot, C Drouet, T Moulin, L Thines
INTRODUCTION: Moya-Moya angiopathy is a neurovascular disease that predisposes to ischemic or hemorrhagic strokes. It is generated by a steno-occlusion of the terminal portion of the internal carotid arteries, which induces the development of abnormal neovessels in the deep regions of the brain. Some pathologies such as sickle cell disease, Down syndrome or Graves' disease may be associated with Moya-Moya angiopathy. These syndromic forms harbor several differences compared with idiopathic Moya-Moya disease...
February 20, 2018: Neuro-Chirurgie
Carolina Serena, Victoria Ceperuelo-Mallafré, Noelia Keiran, Maria Isabel Queipo-Ortuño, Rosa Bernal, Ricardo Gomez-Huelgas, Mireia Urpi-Sarda, Mónica Sabater, Vicente Pérez-Brocal, Cristina Andrés-Lacueva, Andres Moya, Francisco J Tinahones, Jose Manuel Fernández-Real, Joan Vendrell, Sonia Fernández-Veledo
Gut microbiota-related metabolites are potential clinical biomarkers for cardiovascular disease (CVD). Circulating succinate, a metabolite produced by both microbiota and the host, is increased in hypertension, ischemic heart disease, and type 2 diabetes. We aimed to analyze systemic levels of succinate in obesity, a major risk factor for CVD, and its relationship with gut microbiome. We explored the association of circulating succinate with specific metagenomic signatures in cross-sectional and prospective cohorts of Caucasian Spanish subjects...
February 12, 2018: ISME Journal
Flávia Thedim Costa Bueno, Mónica García, José Moya, Ilana Löwy, Jaime L Benchimol, Roberta C Cerqueira, Marcos Cueto
Infection with the zika virus had a great impact not only on pregnant women and newborns, but also on public health, on popular ideas about Aedes aegypti and with respect to women's social rights. The objective of this paper is to identify this impact and the historical, social and health changes of the disease and the legacy of the zika virus. Interventions by researchers from different specialties foster conditions for more comprehensive investigations into future epidemic threats in Brazil and Latin America...
October 2017: História, Ciências, Saúde—Manguinhos
Carlos Moya, Salvador Máñez
Atherosclerosis is one of the leading causes of death in Western countries, with high-density lipoproteins (HDL) playing an important protective role due to their ability to inhibit oxidation of low-density lipoproteins (LDL), thus relieving vascular subendothelial damage. One of the proteins constituting HDL particles is paraoxonase-1 (PON1), an enzyme able to hydrolyze aryl esters, lactones, and organophosphates. Other closely related paraoxonases are designated as PON2, which is a protein localized inside many different kinds of cells, and PON3, not only present in HDL but also in mitochondria and endoplasmic reticulum, as well...
February 6, 2018: Naunyn-Schmiedeberg's Archives of Pharmacology
Dustin Je Huard, Vincent M Crowley, Yuhong Du, Ricardo A Cordova, Zheying Sun, Moya O Tomlin, Chad A Dickey, John Koren, Laura Blair, Haian Fu, Brian S J Blagg, Raquel L Lieberman
Gain-of-function mutations within the olfactomedin (OLF) domain of myocilin result in its toxic intracellular accumulation and hastens the onset of open-angle glaucoma. The absence of myocilin does not cause disease; therefore, strategies aimed at eliminating myocilin could lead to a successful glaucoma treatment. The endoplasmic reticulum Hsp90 paralog Grp94 accelerates OLF aggregation. Knockdown or pharmacological inhibition of Grp94 in cells facilitates clearance of mutant myocilin via a non-proteasomal pathway...
February 5, 2018: ACS Chemical Biology
Irene Moya-Horno, Santiago Viteri, Niki Karachaliou, Rafael Rosell
Treatment for advanced non-small cell lung cancer (NSCLC) has been significantly improved in recent years with the incorporation of drugs targeting antiangiogenesis and more specifically genomic alterations such as the EGFR mutations and ALK translocations. However, most patients invariably progress and die. The emergence of immune checkpoint inhibitors targeting the pathways involved in tumor-induced immunosuppression have redefined the management of the disease, achieving significant long-lasting responses with manageable safety profiles, regardless of histology...
2018: Therapeutic Advances in Medical Oncology
Pablo Molina, Belén Vizcaíno, Mariola D Molina, Sandra Beltrán, Mercedes González-Moya, Antonio Mora, Cristina Castro-Alonso, Julia Kanter, Ana I Ávila, José L Górriz, Nuria Estañ, Luis M Pallardó, Denis Fouque, Juan J Carrero
Background: Compared with conventional haemodialysis (HD), online haemodiafiltration (OL-HDF) achieves a more efficient removal of uraemic toxins and reduces inflammation, which could favourably affect nutritional status. We evaluate the effect of OL-HDF on body composition and nutritional status in prevalent high-flux HD (HF-HD) patients. Methods: In all, 33 adults with chronic kidney disease (CKD) Stage 5 undergoing maintenance HF-HD were assigned to post-dilution OL-HDF (n = 17) or to remain on HF-HD (n = 16, control group) for 12 months...
January 22, 2018: Nephrology, Dialysis, Transplantation
Julia Ramírez-Moya, León Wert-Lamas, Pilar Santisteban
Recent studies have shown that miR-146b is the most upregulated microRNA in thyroid cancer and has a central role in cancer progression through mechanisms that remain largely unidentified. As phosphoinositide 3-kinase/protein kinase-B (PI3K/AKT) signaling is a fundamental oncogenic driver in many thyroid cancers, we explored a potential role for miR-146b and its target genes in PI3K/AKT activation. Among the predicted target genes of miR-146b, we found the tumor-suppressor phosphatase and tensin homolog (PTEN)...
January 22, 2018: Oncogene
Gemma Moya-Galé, Alireza Goudarzi, Àngels Bayés, Megan McAuliffe, Bram Bulté, Erika S Levy
Purpose: The purpose of this study was to examine the effects of intensive speech treatment on the conversational intelligibility of Castilian Spanish speakers with Parkinson's disease (PD), as well as on the speakers' self-perceptions of disability. Method: Fifteen speakers with a medical diagnosis of PD participated in this study. Speech recordings were completed twice before treatment, immediately posttreatment, and at a 1-month follow-up session. Conversational intelligibility was assessed in 2 ways-transcription accuracy scores and intelligibility ratings on a 9-point Likert scale...
January 19, 2018: American Journal of Speech-language Pathology
Aditi Narsale, Rosita Moya, Joanna Davida Davies
CD4+ T cells that co-express CD25 and CD127 (CD25+ CD127+ ) make up around 20% of all circulating CD4+ memory T cells in healthy people. The clinical significance of these cells is that in children with type 1 diabetes their relative frequency at diagnosis is significantly and directly correlated with rate of disease progression. The purpose of this study was to further characterize the CD25+ CD127hi cells. We show that they are a mix of Th1 and Th2 cells however, they have a significantly higher relative frequency of pre-committed and committed Th2 cells, and secrete significantly higher levels of Th2-type cytokines than CD25- memory T cells...
March 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
Ana Torroglosa, Leticia Villalba-Benito, Raquel María Fernández, María José Moya-Jiménez, Guillermo Antiñolo, Salud Borrego
Hirschsprung disease (HSCR, OMIM 142623) is a pathology that shows a lack of enteric ganglia along of the distal gastrointestinal tract. This aganglionosis is attributed to an abnormal proliferation, migration, differentiation and/or survival of enteric precursor cells (EPCs) derived from neural crest cells (NCCs) during the enteric nervous system (ENS) embryogenesis. DNMT3b de novo methyltransferase is associated with NCCs development and has been shown to be implicated in ENS formation as well as in HSCR...
December 5, 2017: Oncotarget
Thuy-Huong Ta, Laura Moya, Justino Nguema, Pilar Aparicio, María Miguel-Oteo, Gema Cenzual, Isabel Canorea, Marta Lanza, Agustín Benito, James Lee Crainey, José Miguel Rubio
Human filariae are vector-borne parasites and the causative agents of various diseases, including human onchocerciasis and lymphatic filariasis. Onchocerciasis causes a spectrum of cutaneous and ophthalmologic manifestations (including blindness) and has long been a major public health problem in Bioko Island (Equatorial Guinea). Bioko Island has been included in the WHO's Onchocerciasis Control Program since 1987. In Bioko Island, the specificity and sensitivity of clinical Onchocerca volvulus diagnosis is key...
December 28, 2017: Acta Tropica
Francesc Valldeoriola, Antonio Salvador, José Maria Gómez-Arguelles, José Marey, Miguel Moya, Ángel Ayuga, Francisco Ramírez
AIM: This study evaluated the effect of ≥6 months of transdermal rotigotine on non-motor and motor symptoms of patients with advanced Parkinson's disease. MATERIALS AND METHODS: The study was conducted in Spain between September 2011 and December 2012 ( NCT01504529). The primary efficacy variable was the change from baseline in non-motor symptoms, as assessed by changes in Parkinson's Disease Non-Motor Symptoms Questionnaire total scores at 6 months...
December 17, 2017: International Journal of Neuroscience
Verity L Hartill, Glenn van de Hoek, Mitali P Patel, Rosie Little, Christopher M Watson, Ian R Berry, Amelia Shoemark, Dina Abdelmottaleb, Emma Parkes, Chiara Bacchelli, Katarzyna Szymanska, Nine V Knoers, Peter J Scambler, Marius Ueffing, Karsten Boldt, Robert Yates, Paul J Winyard, Beryl Adler, Eduardo Moya, Louise Hattingh, Anil Shenoy, Claire Hogg, Eamonn Sheridan, Ronald Roepman, Dominic Norris, Hannah M Mitchison, Rachel H Giles, Colin A Johnson
DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain assembly and cilia motility, and DNAAF1 mutations cause primary ciliary dyskinesia (PCD; MIM 613193). We describe four families with DNAAF1 mutations and complex congenital heart disease (CHD). In three families, all affected individuals have typical PCD phenotypes. However, an additional family demonstrates isolated CHD (heterotaxy) in two affected siblings, but no clinical evidence of PCD. We identified a homozygous DNAAF1 missense mutation, p...
February 1, 2018: Human Molecular Genetics
John Lai, Leire Moya, Jiyuan An, Andrea Hoffman, Srilakshmi Srinivasan, Janaththani Panchadsaram, Carina Walpole, Joanna L Perry-Keene, Suzanne Chambers, Melanie L Lehman, Colleen C Nelson, Judith A Clements, Jyotsna Batra
Short tandem repeats (STRs) are repetitive sequences of a polymorphic stretch of two to six nucleotides. We hypothesized that STRs are associated with prostate cancer development and/or progression. We undertook RNA sequencing analysis of prostate tumors and adjacent non-malignant cells to identify polymorphic STRs that are readily expressed in these cells. Most of the expressed STRs in the clinical samples mapped to intronic and intergenic DNA. Our analysis indicated that three of these STRs (TAAA-ACTG2, TTTTG-TRIB1, and TG-PCA3) are polymorphic and differentially expressed in prostate tumors compared to adjacent non-malignant cells...
December 4, 2017: Scientific Reports
Federico Lopez-Moya, Nuria Escudero, Ernesto A Zavala-Gonzalez, David Esteve-Bruna, Miguel A Blázquez, David Alabadí, Luis V Lopez-Llorca
Chitosan is a natural polymer with applications in agriculture, which causes plasma membrane permeabilisation and induction of intracellular reactive oxygen species (ROS) in plants. Chitosan has been mostly applied in the phylloplane to control plant diseases and to enhance plant defences, but has also been considered for controlling root pests. However, the effect of chitosan on roots is virtually unknown. In this work, we show that chitosan interfered with auxin homeostasis in Arabidopsis roots, promoting a 2-3 fold accumulation of indole acetic acid (IAA)...
December 1, 2017: Scientific Reports
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