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https://www.readbyqxmd.com/read/28742514/the-importance-of-biochemical-and-genetic-findings-in-the-diagnosis-of-atypical-norrie-disease
#1
Ana Rodríguez-Muñoz, Gema García-García, Francisco Menor, José M Millán, Miguel Tomás-Vila, Teresa Jaijo
BACKGROUND: Norrie disease (ND) is a rare X-linked disorder characterized by bilateral congenital blindness. ND is caused by a mutation in the Norrie disease pseudoglioma (NDP) gene, which encodes a 133-amino acid protein called norrin. Intragenic deletions including NDP and adjacent genes have been identified in ND patients with a more severe neurologic phenotype. We report the biochemical, molecular, clinical and radiological features of two unrelated affected males with a deletion including NDP and MAO genes...
July 25, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28737011/a-distinctive-patchy-osteomalacia-characterises-phospho1-deficient-mice
#2
Alan Boyde, Katherine A Staines, Behzad Javaheri, Jose Luis Millan, Andrew A Pitsillides, Colin Farquharson
The phosphatase PHOSPHO1 is involved in the initiation of biomineralisation. Bones in Phospho1 knockout (KO) mice show histological osteomalacia with frequent bowing of long bones and spontaneous fractures: they contain less mineral, with smaller mineral crystals. However, the consequences of Phospho1 ablation on the microscale structure of bone are not yet fully elucidated. Tibias and femurs obtained from wild-type and Phospho1 null (KO) mice (25-32 weeks old) were embedded in PMMA, cut and polished to produce near longitudinal sections...
August 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28731353/altering-dna-programmable-colloidal-crystallization-paths-by-modulating-particle-repulsion
#3
Mary X Wang, Jeffrey D Brodin, Jaime A Millan, Soyoung E Seo, Martin Girard, Monica Olvera de la Cruz, Byeongdu Lee, Chad A Mirkin
Colloidal crystal engineering with DNA can be used to realize precise control over nanoparticle (NP) arrangement. Here, we investigate a case of DNA-based assembly where the properties of DNA as a polyelectrolyte brush are employed to alter a hybridization-driven NP crystallization pathway. Using the coassembly of DNA-conjugated proteins and spherical gold nanoparticles (AuNPs) as a model system, we explore how steric repulsion between noncomplementary, neighboring NPs due to overlapping DNA shells can influence their ligand-directed behavior...
July 21, 2017: Nano Letters
https://www.readbyqxmd.com/read/28727047/a-diet-supplemented-with-n-3-polyunsaturated-fatty-acids-influences-the-metabomscic-and-endocrine-response-of-rabbit-does-and-their-offspring
#4
M Rodríguez, R M García-García, M Arias-Álvarez, N Formoso-Rafferty, P Millán, J López-Tello, P L Lorenzo, A González-Bulnes, P G Rebollar
The aim of the present study was to evaluate the productive, endocrine, and metabomscic responses as well as oxidative stress of rabbit does and their offspring when fed a diet supplemented with -3 PUFA during their first productive cycle. To this aim, a total of 105 rabbit does were fed ad mscibitum from d 60 to 172 of age 2 isoenergetic and isoproteic diets differing in fatty acid composition. The control diet ( = 52 does) contained 45.9 g/kg of -3 of the total fatty acids and the enriched diet ( = 53 does) contained 149...
June 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28722568/epidemiology-of-spotted-fever-group-rickettsioses-and-acute-undifferentiated-febrile-illness-in-villeta-colombia
#5
Álvaro A Faccini-Martínez, Alejandro Ramírez-Hernández, Christian Barreto, Elkin Forero-Becerra, Diego Millán, Elkin Valbuena, Andrea C Sánchez-Alfonso, Wilson O Imbacuán-Pantoja, Jesús A Cortés-Vecino, Luis J Polo-Terán, Néstor Yaya-Lancheros, Jorge Jácome, Ana M Palomar, Sonia Santibáñez, Aránzazu Portillo, José A Oteo, Marylin Hidalgo
Etiology of acute undifferentiated febrile syndrome (AUFS) is often unknown, leading to inaccurate diagnosis and treatment. Villeta town has been identified as an endemic area for spotted fever group (SFG) rickettsioses but little is known about possible amplifier hosts and other Rickettsia species different from Rickettsia rickettsii. Besides, few studies have approached other AUFS etiologies in the region. We investigated the role of dengue, leptospirosis, rickettsioses, human anaplasmosis, and Q fever as possible causes of AUFS in patients from Villeta...
June 19, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28721639/erratum-to-frequency-of-germline-dna-genetic-findings-in-an-unselected-prospective-cohort-of-triple-negative-breast-cancer-patients-participating-in-a-platinum-based-neoadjuvant-chemotherapy-trial
#6
Milagros González-Rivera, Miriam Lobo, Sara López-Tarruella, Yolanda Jerez, María Del Monte-Millán, Tatiana Massarrah, Rocío Ramos-Medina, Inmaculada Ocaña, Antoni Picornell, Sonia Santillán Garzón, Lucía Pérez-Carbornero, José A García-Saenz, Henry Gómez, Fernando Moreno, Iván Márquez-Rodas, Hugo Fuentes, Miguel Martin
No abstract text is available yet for this article.
July 18, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28717597/cuticle-hydrocarbons-in-saline-aquatic-beetles
#7
María Botella-Cruz, Adrián Villastrigo, Susana Pallarés, Elena López-Gallego, Andrés Millán, Josefa Velasco
Hydrocarbons are the principal component of insect cuticle and play an important role in maintaining water balance. Cuticular impermeability could be an adaptative response to salinity and desiccation in aquatic insects; however, cuticular hydrocarbons have been poorly explored in this group and there are no previous data on saline species. We characterized cuticular hydrocarbons of adults and larvae of two saline aquatic beetles, namely Nebrioporus baeticus (Dytiscidae) and Enochrus jesusarribasi (Hydrophilidae), using a gas chromatograph coupled to a mass spectrometer...
2017: PeerJ
https://www.readbyqxmd.com/read/28716979/blood-biomarkers-for-the-early-diagnosis-of-stroke-the-stroke-chip-study
#8
Alejandro Bustamante, Elena López-Cancio, Sara Pich, Anna Penalba, Dolors Giralt, Teresa García-Berrocoso, Carles Ferrer-Costa, Teresa Gasull, María Hernández-Pérez, Mónica Millan, Marta Rubiera, Pedro Cardona, Luis Cano, Helena Quesada, Mikel Terceño, Yolanda Silva, Mar Castellanos, Moisés Garces, Silvia Reverté, Xavier Ustrell, Rafael Marés, Joan Josep Baiges, Joaquín Serena, Francisco Rubio, Eduardo Salas, Antoni Dávalos, Joan Montaner
BACKGROUND AND PURPOSE: Stroke diagnosis could be challenging in the acute phase. We aimed to develop a blood-based diagnostic tool to differentiate between real strokes and stroke mimics and between ischemic and hemorrhagic strokes in the hyperacute phase. METHODS: The Stroke-Chip was a prospective, observational, multicenter study, conducted at 6 Stroke Centers in Catalonia. Consecutive patients with suspected stroke were enrolled within the first 6 hours after symptom onset, and blood samples were drawn immediately after admission...
July 17, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28710691/monitoring-of-inland-waters-for-culturing-shrimp-litopenaeus-vannamei-application-of-a-method-based-on-survival-and-chemical-composition
#9
G Valencia-Castañeda, M I Millán-Almaraz, J F Fierro-Sañudo, M G Fregoso-López, F Páez-Osuna
This study evaluated the suitability of 21 inland waters (16 well waters and 5 surface waters) from Northwest Mexico via short- (48 h) and medium-term (28 days) tests using postlarvae (PL18) of Litopenaeus vannamei. In the short test, survival was assessed at 48 h after shrimp were placed in groups of 10 postlarvae into 2-L containers of inland water, to which they had been previously acclimated. The second, medium-term test consisted of four replicates with 10 postlarvae, and each group was placed in 15-L containers with the treatment water...
August 2017: Environmental Monitoring and Assessment
https://www.readbyqxmd.com/read/28708093/real-time-communication-support-for-underwater-acoustic-sensor-networks-%C3%A2
#10
Rodrigo Santos, Javier Orozco, Matias Micheletto, Sergio F Ochoa, Roc Meseguer, Pere Millan, And Carlos Molina
Underwater sensor networks represent an important and promising field of research due to the large diversity of underwater ubiquitous applications that can be supported by these networks, e.g., systems that deliver tsunami and oil spill warnings, or monitor submarine ecosystems. Most of these monitoring and warning systems require real-time communication in wide area networks that have a low density of nodes. The underwater communication medium involved in these networks is very harsh and imposes strong restrictions to the communication process...
July 14, 2017: Sensors
https://www.readbyqxmd.com/read/28705519/acquired-port-wine-stain-fegeler-syndrome-a-report-of-3-cases
#11
J F Millán-Cayetano, J Del Boz, P García-Montero, M de Troya-Martín
No abstract text is available yet for this article.
July 11, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28701939/behavioral-and-cortical-effects-during-attention-driven-brain-computer-interface-operations-in-spatial-neglect-a-feasibility-case-study
#12
Luca Tonin, Marco Pitteri, Robert Leeb, Huaijian Zhang, Emanuele Menegatti, Francesco Piccione, José Del R Millán
During the last years, several studies have suggested that Brain-Computer Interface (BCI) can play a critical role in the field of motor rehabilitation. In this case report, we aim to investigate the feasibility of a covert visuospatial attention (CVSA) driven BCI in three patients with left spatial neglect (SN). We hypothesize that such a BCI is able to detect attention task-specific brain patterns in SN patients and can induce significant changes in their abnormal cortical activity (α-power modulation, feature recruitment, and connectivity)...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28701103/lipid-management-among-individuals-with-inflammatory-arthritis-in-the-national-reasons-for-geographic-and-racial-differences-in-stroke-regards-cohort
#13
Iris Navarro-Millán, Christopher M Gamboa, Jeffrey R Curtis, Monika M Safford
Objective Hyperlipidemia guidelines do not currently identify inflammatory arthritis (IA) as a cardiovascular disease (CVD) risk factor. We compared hyperlipidemia treatment of individuals with and without IA (rheumatoid arthritis, psoriatic arthritis, or ankylosing spondylitis) in a large national cohort. Methods Participants from the REasons for Geographic And Racial Differences in Stroke (REGARDS) study were classified as having IA (without diabetes or hypertension); diabetes (but no IA); hypertension (but no diabetes or IA); or no IA, diabetes, or hypertension...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28699871/two-component-system-cbra-cbrb-controls-alginate-production-in-azotobacter-vinelandii
#14
Elva Quiroz-Rocha, Fernando Bonilla-Badía, Valentina García-Aguilar, Liliana López-Pliego, Jade Serrano-Román, Miguel Cocotl-Yañez, Josefina Guzmán, Carlos L Ahumada-Manuel, Luis Felipe Muriel-Millán, Miguel Castañeda, Guadalupe Espín, Cinthia Nuñez
Azotobacter vinelandii, belonging to the Pseudomonadaceae family, is a free-living bacterium that has been considered to be a good source for the production of bacterial polymers such as alginate. In A. vinelandii the synthesis of this polymer is regulated by the Gac/Rsm post-transcriptional regulatory system, in which the RsmA protein binds to the mRNA of the biosynthetic algD gene, inhibiting translation. In several Pseudomonas spp. the two-component system CbrA/CbrB has been described to control a variety of metabolic and behavioural traits needed for adaptation to changing environmental conditions...
July 12, 2017: Microbiology
https://www.readbyqxmd.com/read/28698242/abnormal-fixational-eye-movements-in-strabismus
#15
Fatema F Ghasia, Jorge Otero-Millan, Aasef G Shaikh
INTRODUCTION: Fixational saccades are miniature eye movements that constantly change the gaze during attempted visual fixation. Visually guided saccades and fixational saccades represent an oculomotor continuum and are produced by common neural machinery. Patients with strabismus have disconjugate binocular horizontal saccades. We examined the stability and variability of eye position during fixation in patients with strabismus and correlated the severity of fixational instability with strabismus angle and binocular vision...
July 11, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28696544/rheology-and-microstructure-of-gels-based-on-wheat-arabinoxylans-enzymatically-modified-in-arabinose-to-xylose-ratio
#16
Jorge A Marquez-Escalante, Elizabeth Carvjal-Millan, Madhav P Yadav, Madhuvanti Kale, Agustín Rascon-Chu, Alfonso A Gardea, Elisa Valenzuela-Soto, Yolanda L Lopez-Franco, Jaime Lizardi-Mendoza, Craig B Faulds
BACKGROUND: Arabinoxylans (AX) are polysaccharides constituted by a backbone of xyloses with arabinose substituents ester-linked to ferulic acid (FA). The arabinose to xylose ratio (A/X) in AX may vary from 0.3 to 1.1. AX form covalent gels by cross-linking of FA but physical interactions between AX chains also contribute to the network formation. The objective of this study was to investigate the rheological and microstructural characteristics of gels based on AX enzymatically modified in A/X...
July 11, 2017: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/28696340/brain-actuated-gait-trainer-with-visual-and-proprioceptive-feedback
#17
Dong Liu, Weihai Chen, Kyuhwa Lee, Ricardo Chavarriaga, Mohamed Bouri, Zhongcai Pei, Jose Del R Millan
OBJECTIVE: Brain-machine interfaces (BMIs) have been proposed in closed-loop applications for neuromodulation and neurorehabilitation. This study describes the impact of different feedback modalities on the performance of an EEG-based BMI that decodes motor imagery (MI) of leg flexion and extension. APPROACH: We executed experiments in a lower-limb gait trainer (the legoPress) where nine able-bodied subjects participated in three consecutive sessions based on a crossover design...
July 11, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28696260/biophysical-analysis-of-arabidopsis-protein-only-rnase-p-alone-and-in-complex-with-trna-provides-a-refined-model-of-trna-binding
#18
Franziska Pinker, Cédric Schelcher, Pablo Fernández-Millán, Anthony Gobert, Catherine Birck, Aurélien Thureau, Pierre Roblin, Philippe Giegé, Claude Sauter
RNase P is a universal enzyme that removes 5' leader sequences from tRNA precursors. The enzyme is therefore essential for maturation of functional tRNAs and mRNA translation. RNase P represents a unique example of an enzyme that can occur either as ribonucleoprotein or as protein alone. The latter form of the enzyme called PRORP (PRotein-Only RNase P) is widespread in eukaryotes, in which it can provide organellar or nuclear RNase P activities. Here, we have focused on Arabidopsis nuclear PRORP2 and its interaction with tRNA substrates...
July 10, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28689784/gedos-secot-consensus-on-the-care-process-of-patients-with-knee-osteoarthritis-and-arthoplasty
#19
M A Ruiz Iban, A Tejedor, E Gil Garay, C Revenga, J C Hermosa, J Montfort, M J Peña, J M López Millán, A Montero Matamala, A Capa Grasa, M J Navarro, M Gobbo, E Loza
OBJECTIVE: To develop recommendations on the evaluation and management procedure in patients undergoing total knee replacement based on best evidence and the experience of a panel of experts. METHODS: A multidisciplinary group of 12 experts was selected that defined the scope, users and the document parts. Three systematic reviews were performed in patients undergoing knee replacement: (i)efficacy and safety of fast-tracks; (ii)efficacy and safety of cognitive interventions in patients with catastrophic pain, and (iii) efficacy and safety of acute post-surgical pain management on post-surgical outcomes...
July 6, 2017: Revista Española de Cirugía Ortopédica y Traumatología
https://www.readbyqxmd.com/read/28689672/extended-screening-of-trypanosoma-cruzi-among-the-offspring-of-infected-women-barcelona-north-metropolitan-area-catalonia-spain-2005-2016
#20
Albert Alcántara Román, Lluís Valerio Sallent, Olga Pérez Quílez, Sílvia Roure Díez, Nemesio Moreno Millán, Xavier Villanova Sanfeliu, Octavi Martinez Cuevas
INTRODUCTION: To date, very little data is available on the extensive, familiar, serological screening of Trypanosoma cruzi from infected-index cases. As it is a parasite with possibility of mother-to-child fetal transmission, the study of the offspring of chronically infected women has a special relevance. METHODS: An observational study using a capture-recapture method that evaluates the offspring serological status of women diagnosed with T. cruzi infection (positive serology) in the northern metropolitan area of Barcelona during 2005-2016...
July 6, 2017: Enfermedades Infecciosas y Microbiología Clínica
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