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https://www.readbyqxmd.com/read/28231309/improving-molecular-diagnosis-of-aniridia-and-wagr-syndrome-using-customized-targeted-array-based-cgh
#1
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus...
2017: PloS One
https://www.readbyqxmd.com/read/28230104/long-term-impact-of-temporal-sequence-from-childhood-obesity-to-hyperinsulinemia-on-adult-metabolic-syndrome-and-diabetes-the-bogalusa-heart-study
#2
Tao Zhang, Huijie Zhang, Ying Li, Shengxu Li, Camilo Fernandez, Lydia Bazzano, Jiang He, Fuzhong Xue, Wei Chen
This study aims to delineate the temporal relations between body mass index (BMI) and insulin in childhood and their impact on adult metabolic syndrome (MetS) and type 2 diabetes mellitus (T2DM).The longitudinal cohort consisted of 609 whites and 339 blacks who had BMI and fasting insulin measured twice in childhood (mean age = 10.5 years at baseline and 15.9 years at follow-up). Incident MetS and T2DM were identified in adulthood (mean age = 30.5 years). Cross-lagged panel and mediation analysis models were used...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28227808/adaptive-decoding-using-local-field-potentials-in-a-brain-machine-interface
#3
Rosa So, Camilo Libedinsky, Kai Keng Ang, Wee Chiek Clement Lim, Kyaw Kyar Toe, Cuntai Guan, Rosa So, Camilo Libedinsky, Kai Keng Ang, Wee Chiek Clement Lim, Kyaw Kyar Toe, Cuntai Guan, Rosa So, Wee Chiek Clement Lim, Kai Keng Ang, Kyaw Kyar Toe, Camilo Libedinsky, Cuntai Guan
Brain-machine interface (BMI) systems have the potential to restore function to people who suffer from paralysis due to a spinal cord injury. However, in order to achieve long-term use, BMI systems have to overcome two challenges - signal degeneration over time, and non-stationarity of signals. Effects of loss in spike signals over time can be mitigated by using local field potential (LFP) signals for decoding, and a solution to address the signal non-stationarity is to use adaptive methods for periodic recalibration of the decoding model...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28223967/secretome-prediction-of-two-m-tuberculosis-clinical-isolates-reveals-their-high-antigenic-density-and-potential-drug-targets
#4
Fernanda Cornejo-Granados, Zyanya L Zatarain-Barrón, Vito A Cantu-Robles, Alfredo Mendoza-Vargas, Camilo Molina-Romero, Filiberto Sánchez, Luis Del Pozo-Yauner, Rogelio Hernández-Pando, Adrián Ochoa-Leyva
The Excreted/Secreted (ES) proteins play important roles during Mycobacterium tuberculosis invasion, virulence, and survival inside the host and they are a major source of immunogenic proteins. However, the molecular complexity of the bacillus cell wall has made difficult the experimental isolation of the total bacterial ES proteins. Here, we reported the genomes of two Beijing genotype M. tuberculosis clinical isolates obtained from patients from Vietnam (isolate 46) and South Africa (isolate 48). We developed a bioinformatics pipeline to predict their secretomes and observed that ~12% of the genome-encoded proteins are ES, being PE, PE-PGRS, and PPE the most abundant protein domains...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28222643/reliability-of-home-based-motor-function-measure-in-hereditary-neuromuscular-diseases
#5
Xiomara Ruiz-Cortes, Fernando Ortiz-Corredor, Camilo Mendoza-Pulido
Objective To evaluate the reliability of the motor function measure (MFM) scale in the assessment of disease severity and progression when administered at home and clinic and assess its correlation with the Paediatric Outcomes Data Collection Instrument (PODCI). Methods In this prospective study, two assessors rated children with hereditary neuromuscular diseases (HNMDs) using the MFM at the clinic and then 2 weeks later at the patients' home. Intraclass correlation coefficient (ICC) was calculated for the reliability of the MFM and its domains...
February 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28220268/anterolateral-ligament-expert-group-consensus-paper-on-the-management-of-internal-rotation-and-instability-of-the-anterior-cruciate-ligament-deficient-knee
#6
REVIEW
Bertrand Sonnery-Cottet, Matthew Daggett, Jean-Marie Fayard, Andrea Ferretti, Camilo Partezani Helito, Martin Lind, Edoardo Monaco, Vitor Barion Castro de Pádua, Mathieu Thaunat, Adrian Wilson, Stefano Zaffagnini, Jacco Zijl, Steven Claes
Purpose of this paper is to provide an overview of the latest research on the anterolateral ligament (ALL) and present the consensus of the ALL Expert Group on the anatomy, radiographic landmarks, biomechanics, clinical and radiographic diagnosis, lesion classification, surgical technique and clinical outcomes. A consensus on controversial subjects surrounding the ALL and anterolateral knee instability has been established based on the opinion of experts, the latest publications on the subject and an exchange of experiences during the ALL Experts Meeting (November 2015, Lyon, France)...
February 20, 2017: Journal of Orthopaedics and Traumatology: Official Journal of the Italian Society of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/28217888/computed-tomography-airway-lumen-volumetry-in-patients-with-acromegaly-association-with-growth-hormone-levels-and-lung-function
#7
Gustavo Bittencourt Camilo, Alysson Roncally Silva Carvalho, Alan Ranieri Medeiros Guimarães, Leandro Kasuki, Mônica Roberto Gadelha, Roberto Mogami, Pedro Lopes de Melo, Agnaldo José Lopes
INTRODUCTION: The segmentation and skeletonisation of images via computed tomography (CT) airway lumen volumetry provide a new perspective regarding the incorporation of this technique in medical practice. Our aim was to quantify morphological changes in the large airways of patients with acromegaly through CT and, secondarily, to correlate these findings with hormone levels and pulmonary function testing (PFT) parameters. METHODS: This was a cross-sectional study in which 28 non-smoker patients with acromegaly and 15 control subjects underwent CT analysis of airway lumen volumetry with subsequent image segmentation and skeletonisation...
February 19, 2017: Journal of Medical Imaging and Radiation Oncology
https://www.readbyqxmd.com/read/28215409/extracorporeal-membrane-oxygenation-ecmo-in-adults-with-acute-respiratory-distress-syndrome-ards-a-6-year-experience-and-case-control-study
#8
Javier Muñoz, Patricia Santa-Teresa, María Jesus Tomey, Lourdes Carmen Visedo, Elena Keough, Juan Camilo Barrios, Santiago Sabell, Antonio Morales
PURPOSE: To evaluate the development of an extracorporeal membrane oxygenation (ECMO) program for the treatment of acute respiratory distress syndrome (ARDS) in adults. METHODS: a) Descriptive study of 15 cases treated since the program approval from 2010 to 2016. b) Case-control study matching the 15 ECMO cases with the 52 severe ARDS treated between 2005 and 2011 in which alternative rescue treatments (prone ventilation, tracheal gas insufflation (TGI) and/or the administration of inhaled nitric oxide (iNO)) were used...
February 16, 2017: Heart & Lung: the Journal of Critical Care
https://www.readbyqxmd.com/read/28214952/novel-potential-scaffold-for-periodontal-tissue-engineering
#9
Raquel Osorio, Camilo Andrés Alfonso-Rodríguez, Estrella Osorio, Antonio L Medina-Castillo, Miguel Alaminos, Manuel Toledano-Osorio, Manuel Toledano
OBJECTIVE: The objective of the study is characterization of novel calcium and zinc-loaded electrospun matrices to be used for periodontal regeneration. MATERIALS AND METHODS: A polymethylmetacrylate-based membrane was calcium or zinc loaded. Matrices were characterized morphologically by atomic force and scanning electron microscopy and mechanically probed by a nanoindenter. Biomimetic calcium phosphate precipitation on polymeric tissues was assessed. Cell viability tests were performed using oral mucosa fibroblasts...
February 18, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28214621/interaction-of-non-aqueous-dispersions-of-silver-nanoparticles-with-cellular-membrane-models
#10
Gustavo Bonomi Soriano, Roselaine da Silva Oliveira, Fernanda Ferraz Camilo, Luciano Caseli
In this work, silver nanoparticles (AgNPs) dispersed in non-aqueous media and stabilized with polyether block polymers amide (PEBA) were incorporated in Langmuir monolayers of dipalmitoylphosphatidylcholine (DPPC), which served as a cell membrane model. The AgNPs presented surface activity, disturbing the viscoelastic properties of the floating film. They expanded the monolayers decreasing their surface elasticity as observed with surface pressure-area isotherms. Polarization modulation reflection-absorption spectroscopy showed that the permanence of AgNPs at the air-water interface is favored by PEBA, affecting both the hydrophilic and the hydrophobic groups of the phospholipid...
February 13, 2017: Journal of Colloid and Interface Science
https://www.readbyqxmd.com/read/28214276/-in-vitro-antifungal-activity-of-azoles-and-amphotericin-b-against-malassezia-furfur-by-the-clsi-m27-a3-microdilution-and-etest-%C3%A2-methods
#11
Juan Camilo Galvis-Marín, María Ximena Rodríguez-Bocanegra, Adriana Del Pilar Pulido-Villamarín, Rubiela Castañeda-Salazar, Adriana Marcela Celis-Ramírez, Melva Yomary Linares-Linares
BACKGROUND: Malassezia furfur is a human skin commensal yeast that can cause skin and opportunistic systemic infections. Given its lipid dependant status, the reference methods established by the Clinical and Laboratory Standards Institute (CLSI) to evaluate antifungal susceptibility in yeasts are not applicable. AIMS: To evaluate the in vitro susceptibility of M. furfur isolates from infections in humans to antifungals of clinical use. METHODS: The susceptibility profile to amphotericin B, itraconazole, ketoconazole and voriconazole of 20 isolates of M...
February 14, 2017: Revista Iberoamericana de Micología
https://www.readbyqxmd.com/read/28210456/severe-odontogenic-infection-an-emergency-case-report
#12
Marcelo Guzmán-Letelier, Claudia Crisosto-Jara, Camilo Diaz-Ricouz, Miguel Peñarrocha-Diago, David Peñarrocha-Oltra
Odontogenic infections (OI) are a major reason for consultation in dental practice. They affect people of all ages, and most of them respond well to current medical and surgical treatments. However, some OI can spread to vital and deep structures, overcome the host immune system - especially in diabetic, immunocompromised or weakened patients - and even prove fatal. Ludwig's angina is a severe form of diffuse cellulitis that can have an acute onset and spread very rapidly, bilaterally affecting areas of the head and neck, and may prove life threatening...
February 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28206936/independent-preoperative-predictors-of-prolonged-length-of-stay-after-laparoscopic-appendectomy-in-patients-over-30-years-of-age-experience-from-a-single-institution
#13
Eric S Wise, Stephen P Gadomski, Annette M Ilg, Camilo Bermudez, Emily W Chan, Michelle L Izmaylov, Samantha J Gridley, Jessica V Kaczmarek, Sir Norman T Melancon, Sarwat Ahmad, Kyle M Hocking, Jose J Diaz, Stephen M Kavic
Prompt discharge after laparoscopic appendectomy (LA) is a marker of quality of care, fiscally desirable and feasible in select patients. Patients over 30 comprise a more heterogeneous cohort known to experience worse outcomes after LA. We aimed to identify easily available preoperative risk factors portending a postoperative length of stay ≥2 days among patients above age 30. In this investigation, 296 included patients from a single institution who underwent LA for acute appendicitis from 2010 to 2014 were retrospectively reviewed for preoperative demographics, laboratory studies, comorbidities, presentation characteristics, radiographic finding, and other rationally selected factors for association with postoperative length of stay ≥2 days...
November 1, 2016: American Surgeon
https://www.readbyqxmd.com/read/28203587/why-do-authors-differ-with-regard-to-the-femoral-and-meniscal-anatomic-parameters-of-the-knee-anterolateral-ligament-dissection-by-layers-and-a-description-of-its-superficial-and-deep-layers
#14
Camilo Partezani Helito, Carlos do Amaral, Yuri da Cunha Nakamichi, Riccardo Gomes Gobbi, Marcelo Batista Bonadio, Renato José Mendonça Natalino, José Ricardo Pécora, Tulio Pereira Cardoso, Gilberto Luis Camanho, Marco Kawamura Demange
BACKGROUND: No consensus exists regarding the anatomic characteristics of the knee anterolateral ligament (ALL). A critical analysis of the dissections described in previous studies allows the division of the ALL into 2 groups with similar characteristics. The presence of considerable variability suggests that the authors may not be referring to the same structure. PURPOSE/HYPOTHESIS: To perform a lateral anatomic dissection, by layers, seeking to characterize the 2 variants described for the ALL on the same knee...
December 2016: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/28203497/refinement-of-nasal-reconstruction-with-a-v-y-alar-perforator-flap
#15
Dominik L Feinendegen, Martin F Langer, J Camilo Roldán
BACKGROUND: The ala of the nose is vascularized by a dense net of perforators originating from the lateral nasal artery or the angular artery. These vessels reach the ala in a cascade fashion from the alar groove/lateral nasal wall. Based on these vessels, a V/Y flap can be dissected with a wide range of mobility. MATERIALS AND METHODS: Nineteen patients underwent reconstruction of the nose by means of a V/Y-alar-perforator flap alone or in combination with a myocutaneous rotation flap from the lateral nasal wall and/or from the nasal dorsum for reconstruction of defects at the nasal tip, ala of the nose, and/or lateral nasal wall...
January 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28195167/handgrip-strength-cutoff-for-cardiometabolic-risk-index-among-colombian-children-and-adolescents-the-fuprecol-study
#16
Robinson Ramírez-Vélez, Jhonatan Camilo Peña-Ibagon, Javier Martínez-Torres, Alejandra Tordecilla-Sanders, Jorge Enrique Correa-Bautista, Felipe Lobelo, Antonio García-Hermoso
Evidence shows an association between muscular strength (MS) and health among young people, however low muscular strength cut points for the detection of high metabolic risk in Latin-American populations are scarce. The aim of this study was twofold: to explore potential age- and sex-specific thresholds of MS, for optimal cardiometabolic risk categorization among Colombian children and adolescents; and to investigate whether cardiometabolic risk differed by MS group by applying the receiver operating characteristic curve (ROC) cut point...
February 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28194125/all-you-need-is-facebook-friends-associations-between-online-and-face-to-face-friendships-and-health
#17
Maria Luisa Lima, Sibila Marques, Gabriel Muiños, Cristina Camilo
Positive social relations are known to have a beneficial impact on health, however, little is known about the links of health with online relationships. In this study, we compare face-to-face and virtual friendships in their association with health. By building on previous results of studies conducted on the well-being of college students, we expect to find stronger associations of face-to-face friendships with health than of those established through Facebook. Furthermore, we expect to test the mediating role of social capital variables in this process...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28193763/neurologic-involvement-in-patients-with-atypical-chediak-higashi-disease
#18
Wendy J Introne, Wendy Westbroek, Catherine A Groden, Vikas Bhambhani, Gretchen A Golas, Eva H Baker, Tanya J Lehky, Joseph Snow, Shira G Ziegler, May Christine V Malicdan, David R Adams, Heidi M Dorward, Richard A Hess, Marjan Huizing, William A Gahl, Camilo Toro
OBJECTIVE: To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study. METHODS: Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluation of blood smears and molecular genotyping, underwent complete neurologic evaluation, MRI of the brain, electrophysiologic examination, and neuropsychological testing...
14, 2017: Neurology
https://www.readbyqxmd.com/read/28187933/clinical-usefulness-of-abdominal-bioimpedance-viscan-in-the-determination-of-visceral-fat-and-its-application-in-the-diagnosis-and-management-of-obesity-and-its-comorbidities
#19
Javier Gómez-Ambrosi, Ignacio González-Crespo, Victoria Catalán, Amaia Rodríguez, Rafael Moncada, Víctor Valentí, Sonia Romero, Beatriz Ramírez, Camilo Silva, María J Gil, Javier Salvador, Alberto Benito, Inmaculada Colina, Gema Frühbeck
BACKGROUND & AIMS: Visceral adipose tissue (VAT) has been shown to be profoundly responsible of most of the obesity-associated metabolic derangements. The measurement of VAT usually implies the use of imaging techniques such as magnetic resonance imaging or computed tomography (CT). Our aim was to evaluate the accuracy of the determination of VAT by means of abdominal bioimpedance (BIA) with the ViScan device in comparison with CT and its clinical usefulness in the management of obesity...
January 28, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28187499/botulinum-toxin-type-a-btx-a-in-the-treatment-of-facial-myotonia-in-schwartz-jampel-syndrome
#20
Igor Dórea Bandeira, João Gabriel Jagersbacher, Thiago Lima Barretto, Camilo Vieira Santos, Rita Lucena
No abstract text is available yet for this article.
February 10, 2017: Muscle & Nerve
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