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https://www.readbyqxmd.com/read/28472853/genetic-rescue-of-mitochondrial-and-skeletal-muscle-impairment-in-an-induced-pluripotent-stem-cells-model-of-coenzyme-q10-deficiency
#1
Damià Romero-Moya, Carlos Santos-Ocaña, Julio Castaño, Gloria Garrabou, José A Rodríguez-Gómez, Vanesa Ruiz-Bonilla, Clara Bueno, Patricia González-Rodríguez, Alessandra Giorgetti, Eusebio Perdiguero, Cristina Prieto, Constanza Moren-Nuñez, Daniel J Fernández-Ayala, Maria Victoria Cascajo, Iván Velasco, Josep Maria Canals, Raquel Montero, Delia Yubero, Cristina Jou, José López-Barneo, Francesc Cardellach, Pura Muñoz-Cánoves, Rafael Artuch, Plácido Navas, Pablo Menendez
Coenzyme Q10 (CoQ10 ) plays a crucial role in mitochondria as an electron carrier within the mitochondrial respiratory chain (MRC) and is an essential antioxidant. Mutations in genes responsible for CoQ10 biosynthesis (COQ genes) cause primary CoQ10 deficiency, a rare and heterogeneous mitochondrial disorder with no clear genotype-phenotype association, mainly affecting tissues with high-energy demand including brain and skeletal muscle (SkM). Here, we report a four-year-old girl diagnosed with minor mental retardation and lethal rhabdomyolysis harboring a heterozygous mutation (c...
May 4, 2017: Stem Cells
https://www.readbyqxmd.com/read/28453060/-physician-patient-relationship-impact-on-promotion-and-prevention-campaigns-for-patients-with-hiv-in-medellin
#2
Viviana Bermúdez-Román, Lemy Bran-Piedrahita, Lucía Palacios-Moya, Isabel C Posada-Zapata
Objective To understand the impact that healthcare professionals have on the perception of health promotion and disease prevention campaigns of individuals with HIV in Medellin, Colombia in 2012. MATERIALS AND METHODS: The research was conducted using a qualitative approach, based on the Strauss and Corbin´s Grounded Theory; thirteen people were interviewed during two sequential steps. The interviews were transcribed and analyzed in accordance with the theory mentioned above, by performing an open and axial coding on the data found...
August 2016: Revista de Salud Pública
https://www.readbyqxmd.com/read/28428782/a-recombinant-potato-virus-y-infectious-clone-tagged-with-the-rosea1-visual-marker-pvy-ros1-facilitates-the-analysis-of-viral-infectivity-and-allows-the-production-of-large-amounts-of-anthocyanins-in-plants
#3
Teresa Cordero, Mohamed A Mohamed, Juan-José López-Moya, José-Antonio Daròs
Potato virus Y (PVY) is a major threat to the cultivation of potato and other solanaceous plants. By inserting a cDNA coding for the Antirrhinum majus Rosea1 transcription factor into a PVY infectious clone, we created a biotechnological tool (PVY-Ros1) that allows infection by this relevant plant virus to be tracked by the naked eye with no need for complex instrumentation. Rosea1 is an MYB-type transcription factor whose expression activates the biosynthesis of anthocyanin pigments in a dose-specific and cell-autonomous manner...
2017: Frontiers in Microbiology
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/28379454/intervention-strategies-for-cesarean-section-induced-alterations-in-the-microbiota-gut-brain-axis
#5
Angela Moya-Pérez, Pauline Luczynski, Ingrid B Renes, Shugui Wang, Yuliya Borre, C Anthony Ryan, Jan Knol, Catherine Stanton, Timothy G Dinan, John F Cryan
Microbial colonization of the gastrointestinal tract is an essential process that modulates host physiology and immunity. Recently, researchers have begun to understand how and when these microorganisms colonize the gut and the early-life factors that impact their natural ecological establishment. The vertical transmission of maternal microbes to the offspring is a critical factor for host immune and metabolic development. Increasing evidence also points to a role in the wiring of the gut-brain axis. This process may be altered by various factors such as mode of delivery, gestational age at birth, the use of antibiotics in early life, infant feeding, and hygiene practices...
April 1, 2017: Nutrition Reviews
https://www.readbyqxmd.com/read/28366187/ictv-virus-taxonomy-profile-potyviridae
#6
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/28358595/treatment-of-enterocutaneous-fistulas-then-and-now
#7
Luis Alfonso Ortiz, Bin Zhang, Maureen Walsh McCarthy, Haytham M A Kaafarani, Peter Fagenholz, David R King, Marc De Moya, George Velmahos, Daniel Dante Yeh
BACKGROUND: An enterocutaneous fistula (ECF) is an aberrant connection between the gastrointestinal tract and the skin or atmosphere (enteroatmospheric fistula [EAF]). Multimodal treatment includes surgical procedures, nutrition support, and wound care. We evaluated our practice and compared our outcomes with previous results published from our institution. MATERIALS AND METHODS: We performed a retrospective analysis of hospitalized ECF/EAF patients admitted between January 2011 and November 2015...
March 1, 2017: Nutrition in Clinical Practice
https://www.readbyqxmd.com/read/28345059/health-and-disease-imprinted-in-the-time-variability-of-the-human-microbiome
#8
Jose Manuel Martí, Daniel Martínez-Martínez, Teresa Rubio, César Gracia, Manuel Peña, Amparo Latorre, Andrés Moya, Carlos P Garay
The animal microbiota (including the human microbiota) plays an important role in keeping the physiological status of the host healthy. Research seeks greater insight into whether changes in the composition and function of the microbiota are associated with disease. We analyzed published 16S rRNA and shotgun metagenomic sequencing (SMS) data pertaining to the gut microbiotas of 99 subjects monitored over time. Temporal fluctuations in the microbial composition revealed significant differences due to factors such as dietary changes, antibiotic intake, age, and disease...
March 2017: MSystems
https://www.readbyqxmd.com/read/28343021/application-of-mixed-methods-design-in-community-engaged-research-lessons-learned-from-an-evidence-based-intervention-for-latinos-with-chronic-illness-and-minor-depression
#9
Claudia X Aguado Loi, Moya L Alfonso, Isabella Chan, Kelsey Anderson, Dinorah Dina Martinez Tyson, Junius Gonzales, Jaime Corvin
The purpose of this paper is to share lessons learned from a collaborative, community-informed mixed-methods approach to adapting an evidence-based intervention to meet the needs of Latinos with chronic disease and minor depression and their family members. Mixed-methods informed by community-based participatory research (CBPR) were employed to triangulate multiple stakeholders' perceptions of facilitators and barriers of implementing the adapted intervention in community settings. Community partners provided an insider perspective to overcome methodological challenges...
December 24, 2016: Evaluation and Program Planning
https://www.readbyqxmd.com/read/28339291/bronchial-microbiome-pa-biofilm-forming-capacity-and-exacerbation-in-severe-copd-patients-colonized-by-p-aeruginosa
#10
Marian Garcia-Nuñez, Sara Marti, Carmen Puig, Vicente Perez-Brocal, Laura Millares, Salud Santos, Carmen Ardanuy, Andres Moya, Josefina Liñares, Eduard Monsó
AIM: The bronchial microbiome of severe chronic obstructive pulmonary disease patients colonized by Pseudomonas aeruginosa was analyzed using 16S rRNA gene sequencing to identify differences related to biofilm-forming capacity. PATIENTS & METHODS: Patient sputum samples from 21 patients were studied. RESULTS: Statistically significant differences related to biofilm-forming capacity were only found for genera with relative abundances <1%, and Fusobacterium was over-represented when biofilm-forming capacity was high...
April 2017: Future Microbiology
https://www.readbyqxmd.com/read/28326204/an-unusual-location-of-subungual-warty-dyskeratoma-a-case-report-and-review-of-the-literature
#11
Elena Vargas-Laguna, Adrián Imbernón-Moya, Antonio Aguilar-Martínez, Fernando Burgos
Warty dyskeratoma is an uncommon entity characterized by a solitary keratotic papule or nodule usually located in the head and neck of young adults. The histopathology shows a pattern of acantholytic dyskeratosis. We report a 32-year-old man who presented pain, serous exudation, a distal onycholysis with subungual hyperkeratosis, and roundish erythronychia in the nail plate of his left first toe 2 years ago. A histopathologic diagnosis of subungual warty dyskeratoma was made. When dealing with focal acantholytic dyskeratosis several differential diagnoses should be considered including Darier's disease, transient focal acantholytic dyskeratosis or Grover disease, and Hailey-Hailey disease...
2017: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/28265782/predictors-of-acute-inefficacy-and-the-radiofrequency-energy-time-required-for-cavotricuspid-isthmus-dependent-atrial-flutter-ablation
#12
Jordi Pérez-Rodon, Julian Rodriguez-García, Axel Sarrias-Merce, Nuria Rivas-Gandara, Ivo Roca-Luque, Jaume Francisco-Pascual, Alba Santos-Ortega, Gabriel Martín-Sánchez, Ignacio Ferreira-González, Jose Rodríguez-Palomares, Artur Evangelista-Masip, David García-Dorado, Àngel Moya-Mitjans
PURPOSE: Although cavotricuspid isthmus-dependent atrial flutter (CTI-AFL) ablation is a highly efficacious treatment, a bidirectional CTI block cannot be achieved in some patients. In this study, we sought to determine the predictors of acute inefficacy of CTI-AFL ablation and the predictors of the radiofrequency (RF) energy time required to achieve a complete bidirectional CTI block. METHODS: All consecutive patients who underwent stand-alone CTI-AFL ablation in our institution, except patients with congenital heart disease, were included in this retrospective study...
March 6, 2017: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/28258474/impact-of-ultrasonography-on-treatment-decision-in-rheumatoid-arthritis-the-impulsar-study
#13
Cèsar Díaz-Torné, Carme Moragues, Elide Toniolo, Carme Geli, Iván Castellví, Patricia Moya, Ignasi Gich, Josep M Llobet
Ultrasonography (US) has shown to be more sensitive than physical examination for diagnosis and assessment of rheumatoid arthritis (RA). It is also a useful approach for accurate monitoring and intensive treatment adjustment. However, there is limited information concerning the impact of US on therapeutic decision-making in routine daily practice. A single-center cross-sectional study in routine daily practice was conducted to determine the percentage of patients with rheumatoid arthritis (RA) in which treatment decision was modified on the basis of results of musculoskeletal ultrasonography...
June 2017: Rheumatology International
https://www.readbyqxmd.com/read/28240038/atraumatic-splenic-rupture-as-a-complication-of-acute-exacerbation-of-chronic-pancreatitis-an-unusual-disease
#14
Elena Moya Sánchez, Antonio Medina Benítez
We report the case of a patient with acute exacerbation of chronic pancreatitis and he suffered an atraumatic splenic rupture. Splenic rupture not associated with trauma is a rare entity that can occurs in normal spleen (spontaneous) or damaged spleen (pathological). This entity may be associated with local inflammatory processes, such as pancreatitis. Ultrasound is a non-invasive technique which is used in unstable patients. CT is useful for making a diagnosis of extension in patients with hemodynamic stability...
February 27, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28235505/tension-pneumomediastnum-a-rare-cause-of-acute-intraoperative-circulatory-collapse-in-the-setting-of-unremarkable-tee-findings
#15
Jonathan B Weaver, Avinash B Kumar
DESIGN: Case report. SETTING: Operating room. PATIENT: 25YF, ASA IV E who underwent an emergent decompressive craniectomy for refractory intracranial hypertension secondary to acute intracranial hemorhage. INTERVENTIONS: A 25Y caucasian female presented with acute intracranial hemorrhage with intraventricular extension secondary to Moya Moya disease. Post admisison, she underwent an emergent decompressive craniectomy for medically refractory intracranial hypertension...
February 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28185009/relationship-between-the-time-to-locoregional-recurrence-and-survival-in-laryngeal-squamous-cell-carcinoma
#16
Philippe Gorphe, Yungan Tao, Pierre Blanchard, Caroline Even, Antoine Moya-Plana, Haïtham Mirghani, France Nguyen, Stéphane Temam, François Janot
To assess the relationship between the locoregional disease-free interval after treatment of the primary tumor and survival after a recurrence in patients with laryngeal carcinoma. We retrospectively investigated patients treated in our Cancer Center for a laryngeal cancer who subsequently developed a locoregional recurrence and were followed up until death. Post-recurrence survival was defined as the time from the locoregional recurrence to death. One hundred and twenty-three patients were included. Median post-recurrence survival was 7 months...
May 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28168973/chronic-venous-disease-of-legs
#17
Adrián Imbernón-Moya, Francisco Javier Ortiz-de Frutos, Mónica Sanjuan-Alvarez, Isabel Portero-Sanchez
No abstract text is available yet for this article.
February 3, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28110826/congenital-melanocytic-nevus-syndrome-a-case-series
#18
A Recio, A I Sánchez-Moya, V Félix, Y Campos
Congenital melanocytic nevus syndrome (CMNS) is the result of an abnormal proliferation of melanocytes in the skin and central nervous system caused by progenitor-cell mutations during embryonic development. Mutations in the NRAS gene have been detected in many of these cells. We present 5 cases of giant congenital melanocytic nevus, 3 of them associated with CMNS; NRAS gene mutation was studied in these 3 patients. Until a few years ago, surgery was the treatment of choice, but the results have proved unsatisfactory because aggressive interventions do not improve cosmetic appearance and only minimally reduce the risk of malignant change...
January 19, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28103814/the-respiratory-microbiome-in-bronchial-mucosa-and-secretions-from-severe-ige-mediated-asthma-patients
#19
Laura Millares, Guadalupe Bermudo, Vicente Pérez-Brocal, Christian Domingo, Marian Garcia-Nuñez, Xavier Pomares, Andrés Moya, Eduard Monsó
BACKGROUND: The bronchial microbiome in chronic lung diseases presents an abnormal pattern, but its microbial composition and regional differences in severe asthma have not been sufficiently addressed. The aim of the study was to describe the bacterial community in bronchial mucosa and secretions of patients with severe chronic asthma chronically treated with corticosteroids in addition to usual care according to Global Initiative for Asthma. Bacterial community composition was obtained by 16S rRNA gene amplification and sequencing, and functional capabilities through PICRUSt...
January 19, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28061448/targeting-basal-like-breast-tumors-with-bromodomain-and-extraterminal-domain-bet-and-polo-like-kinase-inhibitors
#20
Cristina Nieto-Jiménez, Ana Alcaraz-Sanabria, Javier Pérez-Peña, Verónica Corrales-Sánchez, Gemma Serrano-Heras, Eva M Galán-Moya, Leticia Serrano-Oviedo, Juan Carlos Montero, Miguel Burgos, Juan Llopis, Atanasio Pandiella, Alberto Ocaña
Metastatic triple negative breast cancer (TNBC) is an incurable disease with limited therapeutic options, and no targeted therapies available. Triple negative tumors and the basal-like genomic subtype, are both characterized by a high proliferation rate and an increase in cell division. In this context, protein kinases involved in the mitotic formation have a relevant role in this tumor subtype. Recently, Bromodomain and extraterminal domain (BET) inhibitors have shown to be active in this disease by modulating the expression of several transcription factors...
March 21, 2017: Oncotarget
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