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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/28228498/ethics-briefing
#2
EDITORIAL
Martin Davies, Sophie Brannan, Ruth Campbell, Veronica English, Rebecca Mussell, Julian Sheather
No abstract text is available yet for this article.
March 2017: Journal of Medical Ethics
https://www.readbyqxmd.com/read/28228495/concise-argument
#3
EDITORIAL
Julian Savulescu
No abstract text is available yet for this article.
March 2017: Journal of Medical Ethics
https://www.readbyqxmd.com/read/28228366/leupeptazin-a-highly-modified-tripeptide-isolated-from-cultures-of-a-streptomyces-sp-inhibits-cathepsin-k
#4
Natasha Kruglyak, David E Williams, Henry Chen, Simon Law, Jadwiga Kaleta, Ivan Villanueva, Julian E Davies, Raymond J Andersen, Dieter Brömme
Using a human cathepsin K-targeting inhibitor screen, a new leupeptin analogue, leupeptazin (1), containing an unprecedented piperidinotriazine moiety, was isolated from a liquid culture of soil Streptomyces sp. IS2-4 collected in northern Italy. The structure of leupeptazin was established using HRESIMS as well as 1D and 2D NMR data. The inhibitory activity of the compound towards the collagenase cathepsin K was tested in vitro to reveal moderate activity with an inhibition constant, Ki, of 44μM.
February 5, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28228304/24h-and-30-day-outcome-of-perclose-proglide-suture-mediated-vascular-closure-device-an-indian-experience
#5
Desabandhu Vinayakumar, Shajudeen Kayakkal, Sandeep Rajasekharan, Julian Johny Thottian, Prasanth Sankaran, Cicy Bastian
INTRODUCTION: Advantages of vascular closure device over manual compression include patient comfort, early mobilisation and discharge, avoidance of interruption of anticoagulation, avoidance of local compression and its sequelae and less time constraint on staff. No published Indian data exist regarding Perclose Proglide suture mediated vascular closure device (SMC). AIM: To study the 24h and 30 day outcome of Perclose Proglide SMC retrospectively. STUDY DESIGN: Retrospective observational study conducted in the Department of Cardiology, Government Medical College, Calicut, Kerala from June 2013 to June 2015...
January 2017: Indian Heart Journal
https://www.readbyqxmd.com/read/28228043/impact-of-exercise-on-clinical-symptom-report-and-neurocognition-following-concussion-in-children-and-adolescents
#6
Vicky Manikas, Franz Babl, Stephen J C Hearps, Julian Dooley, Vicki Anderson
Recovery from concussion in childhood is poorly understood, despite its importance in decisions regarding return to normal activity. Resolution of post-concussive symptoms (PCS) is widely employed as a marker of recovery in clinical practice, however it is unclear if subtle impairments persist only to re-emerge in the context of increased physical or cognitive demands. This study aimed to examine the effect of strenuous exercise on clinical symptom report and neurocognition in children and adolescents after PCS resolution following concussion We recruited concussed children and adolescents (n=30) on presentation to an Emergency Department (ED)...
February 22, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28228022/electron-nuclear-wave-packet-dynamics-through-a-conical-intersection
#7
Kilian Hader, Julian Albert, E K U Gross, Volker Engel
We investigate the coupled electron-nuclear dynamics in a model system showing a conical intersection (CoIn) between two excited state potential energy surfaces. Within the model, a single electron and nucleus move in two dimensions in an external static field. It is demonstrated that the nuclear density conserves its initial Gaussian shape when directly passing the CoIn, whereas the electronic density remains approximately constant. This is in sharp contrast to the picture which evolves from an analysis within the basis of adiabatic electronic states...
February 21, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28227422/a-probabilistic-framework-based-on-slic-superpixel-and-gaussian-processes-for-segmenting-nerves-in-ultrasound-images
#8
Julian Gil Gonzalez, Mauricio A Alvarez, Alvaro A Orozco, Julian Gil Gonzalez, Mauricio A Alvarez, Alvaro A Orozco, Mauricio A Alvarez, Julian Gil Gonzalez, Alvaro A Orozco
We deal with an important problem in the field of anesthesiology known as automatic segmentation of nerve structures depicted in ultrasound images. This is important to aid the experts in anesthesiology, in order to carry out Peripheral Nerve Blocking (PNB). Ultrasound imaging has gained recent interest for performing PNB procedures since it offers a non-invasive visualization of the nerve and the anatomical structures around it. However, the location of these nerves in ultrasound images is a difficult task for the specialist due to the artifacts (i...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226909/wearable-eeg-via-lossless-compression
#9
Guillermo Dufort, Federico Favaro, Federico Lecumberry, Alvaro Martin, Juan P Oliver, Julian Oreggioni, Ignacio Ramirez, Gadiel Seroussi, Leonardo Steinfeld, Guillermo Dufort, Federico Favaro, Federico Lecumberry, Alvaro Martin, Juan P Oliver, Julian Oreggioni, Ignacio Ramirez, Gadiel Seroussi, Leonardo Steinfeld, Federico Favaro, Alvaro Martin, Gadiel Seroussi, Ignacio Ramirez, Juan P Oliver, Leonardo Steinfeld, Guillermo Dufort, Federico Lecumberry, Julian Oreggioni
This work presents a wearable multi-channel EEG recording system featuring a lossless compression algorithm. The algorithm, based in a previously reported algorithm by the authors, exploits the existing temporal correlation between samples at different sampling times, and the spatial correlation between different electrodes across the scalp. The low-power platform is able to compress, by a factor between 2.3 and 3.6, up to 300sps from 64 channels with a power consumption of 176μW/ch. The performance of the algorithm compares favorably with the best compression rates reported up to date in the literature...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226865/electrical-resistance-increases-at-the-tissue-electrode-interface-as-an-early-response-to-nucleus-accumbens-deep-brain-stimulation
#10
Rajas P Kale, Abbas Z Kouzani, Julian Berk, Ken Walder, Michael Berk, Susannah J Tye, Rajas P Kale, Abbas Z Kouzani, Julian Berk, Ken Walder, Michael Berk, Susannah J Tye, Julian Berk, Michael Berk, Susannah J Tye, Abbas Z Kouzani, Rajas P Kale, Ken Walder
The therapeutic actions of deep brain stimulation are not fully understood. The early inflammatory response of electrode implantation is associated with symptom relief without electrical stimulation, but is negated by anti-inflammatory drugs. Early excitotoxic necrosis and subsequent glial scarring modulate the conductivity of the tissue-electrode interface, which can provide some detail into the inflammatory response of individual patients. The feasibility of this was demonstrated by measuring resistance values across a bipolar electrode which was unilaterally implanted into the nucleus accumbens of a rat while receiving continuous deep brain stimulation with a portable back-mounted device using clinical parameters (130Hz, 200μA, 90μs) for 3 days...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226315/the-novel-cyclin-dependent-kinase-4-6-inhibitor-ribociclib-lee011-alone-and-in-dual-targeting-approaches-demonstrates-antitumoral-efficacy-in-neuroendocrine-tumors-in-vitro
#11
Elke Tatjana Aristizabal Prada, Svenja Noelting, Gerald Spoettl, Julian Maurer, Christoph Joseph Auernhammer
No abstract text is available yet for this article.
February 23, 2017: Neuroendocrinology
https://www.readbyqxmd.com/read/28226302/towards-a-theoretical-model-on-medicines-as-a-health-need
#12
Claudia Marcela Vargas-Peláez, Luciano Soares, Marina Raijche Mattozo Rover, Carine Raquel Blatt, Aukje Mantel-Teeuwisse, Francisco Augusto Rossi Buenaventura, Luis Guillermo Restrepo, María Cristina Latorre, José Julián López, María Teresa Bürgin, Consuelo Silva, Silvana Nair Leite, Farias Mareni Rocha
Medicines are considered one of the main tools of western medicine to resolve health problems. Currently, medicines represent an important share of the countries' healthcare budget. In the Latin America region, access to essential medicines is still a challenge, although countries have established some measures in the last years in order to guarantee equitable access to medicines. A theoretical model is proposed for analysing the social, political, and economic factors that modulate the role of medicines as a health need and their influence on the accessibility and access to medicines...
February 15, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28226284/does-suboccipital-decompression-and-evacuation-of-intraparenchymal-hematoma-improve-neurological-outcome-in-patients-with-spontaneous-cerebellar-hemorrhage
#13
Katharina A M Hackenberg, Andreas W Unterberg, Carla S Jung, Julian Bösel, Silvia Schönenberger, Klaus Zweckberger
OBJECTIVE: Spontaneous cerebellar hemorrhages (SCH) can lead to life-threatening complications with high mortality rates of 20-50%. Although complications of SCH can be prevented by surgical therapy, there is a lack of consensus concerning the optimal surgical technique for evacuating SCH. METHODS: In this retrospective study 85 patients with SCH were divided into four treatment groups: (1) Decompression and Hematoma Evacuation via suboccipital craniectomy and removal of the posterior arch of C1 (DHE)...
February 3, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28226004/guillain-barr%C3%A3-syndrome-and-other-neurological-manifestations-possibly-related-to-zika-virus-infection-in-municipalities-from-bahia-brazil-2015
#14
Juliane Maria Alves Siqueira Malta, Alexander Vargas, Priscila Leal E Leite, Jadher Percio, Giovanini Evelim Coelho, Andréa Helena Argolo Ferraro, Tânia Maria de Oliveira Cordeiro, Jesângeli de Sousa Dias, Eduardo Saad
Objective: to describe the reported cases of Guillain-Barré Syndrome (GBS) and other neurological manifestations with a history of dengue, chikungunya or Zika virus infections, in the Metropolitan Region of Salvador and in the municipality of Feira de Santana, Brazil. Methods: this is a descriptive study with data of an investigation conducted by the epidemiological surveillance from March to August 2015; to confirm the neurological manifestations, medical diagnosis records were considered, and to prior infection, clinical and laboratory criteria were used...
January 2017: Epidemiologia e Servicos de Saude: Revista do Sistema Unico de Saude do Brasil
https://www.readbyqxmd.com/read/28225910/products-purchased-from-family-farming-for-school-meals-in-the-cities-of-rio-grande-do-sul
#15
Daniele Ferigollo, Vanessa Ramos Kirsten, Dienifer Heckler, Oscar Agustín Torres Figueredo, Julian Perez-Cassarino, Rozane Márcia Triches
OBJECTIVE: This study aims to verify the adequacy profile of the cities of the State of Rio Grande do Sul, Brazil, in relation to the purchase of products of family farming by the Programa Nacional de Alimentação Escolar (PNAE - National Program of School Meals). METHODS: This is a quantitative descriptive study, with secondary data analysis (public calls-to-bid). The sample consisted of approximately 10% (n = 52) of the cities in the State, establishing a representation by mesoregion and size of the population...
February 16, 2017: Revista de Saúde Pública
https://www.readbyqxmd.com/read/28225901/tuberculosis-associated-factors-caused-by-mycobacterium-tuberculosis-of-the-rdrio-genotype
#16
Eloise Brasil Moraes, Letícia Slompo, Amanda Juliane Finardi, Heloisa Paro Pedro da Silveira, Luciana Ruiz, Harrison Magdinier Gomes, Virginia Bodelão Richini, Philip Suffys, Carlos Magno Castelo Branco Fortaleza, Ricardo Cavalcanti, Ida Maria Foschiani Dias Baptista
BACKGROUND: Tuberculosis (TB) continues to be a disease that affects many countries around the world, including Brazil. Recently, a subtype of Latin American-Mediterranean family strain was identified and characterised by RDRio. The strain has been associated with different characteristics of the disease. OBJECTIVES: In the present study we investigated the association of epidemiological, clinical, radiological and bacteriological variables with pulmonary tuberculosis caused by RDRioMycobacterium tuberculosis strain in large regions of São Paulo...
March 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/28225895/tuberculosis-associated-factors-caused-by-mycobacterium-tuberculosis-of-the-rdrio-genotype
#17
Eloise Brasil Moraes, Letícia Slompo, Amanda Juliane Finardi, Heloisa Paro Pedro da Silveira, Luciana Ruiz, Harrison Magdinier Gomes, Virginia Bodelão Richini, Philip Suffys, Carlos Magno Castelo Branco Fortaleza, Ricardo Cavalcanti, Ida Maria Foschiani Dias Baptista
BACKGROUND: Tuberculosis (TB) continues to be a disease that affects many countries around the world, including Brazil. Recently, a subtype of Latin American-Mediterranean family strain was identified and characterised by RDRio. The strain has been associated with different characteristics of the disease. OBJECTIVES: In the present study we investigated the association of epidemiological, clinical, radiological and bacteriological variables with pulmonary tuberculosis caused by RDRioMycobacterium tuberculosis strain in large regions of São Paulo...
February 16, 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/28225831/whole-body-staging-of-female-patients-with-recurrent-pelvic-malignancies-ultra-fast-18f-fdg-pet-mri-compared-to-18f-fdg-pet-ct-and-ct
#18
Julian Kirchner, Lino Morris Sawicki, Saravanabavaan Suntharalingam, Johannes Grueneisen, Verena Ruhlmann, Bahriye Aktas, Cornelius Deuschl, Ken Herrmann, Gerald Antoch, Michael Forsting, Lale Umutlu
OBJECTIVES: To evaluate the diagnostic feasibility of an ultra-fast 18F-FDG PET/MRI protocol, including T2-w and contrast-enhanced T1-w imaging as well as metabolic assessment (PET) in comparison to 18F-FDG PET/CT and CT for whole-body staging of female patients with suspected recurrence of pelvic malignancies. METHODS: 43 female patients with suspected tumor recurrence were included in this study. Suspicion was based on clinical follow-up and abnormal findings on imaging follow-up...
2017: PloS One
https://www.readbyqxmd.com/read/28225269/indazole-based-covalent-inhibitors-to-target-drug-resistant-epidermal-growth-factor-receptor
#19
Stefano Tomassi, Jonas Lategahn, Julian Engel, Marina Keul, Hannah Lea Tumbrink, Julia Ketzer, Thomas Mühlenberg, Matthias Baumann, Carsten Schultz-Fademrecht, Sebastian Bauer, Daniel Rauh
The specific targeting of oncogenic mutant epidermal growth factor receptor (EGFR) is a breakthrough in targeted cancer therapy and marks a drastic change in the treatment of non-small cell lung cancer (NSCLC). The recurrent emergence of resistance to these targeted drugs requires the development of novel chemical entities that efficiently inhibit drug-resistant EGFR. Herein, we report the optimization process for a hit compound that has emerged from a phenotypic screen resulting in indazole-based compounds...
February 22, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28224794/localized-bond-charge-corrected-cm1a-charges-for-condensed-phase-simulations
#20
Leela S Dodda, Jonah Z Vilseck, Julian Tirado-Rives, William L Jorgensen
The quality of the 1.14*CM1A and 1.20*CM5 charge models was evaluated for calculations of free energies of hydration. For a set of 426 neutral molecules, 1.14*CM1A and 1.20*CM5 yield MADs of 1.26 and 1.20 kcal/mol, respectively. The 1.14*CM1A charges, which can be readily obtained for large systems, exhibit large deviations only for a subset of functional groups. The results for these cases were systematically improved using Localized Bond Charge Corrections (LBCC) by which off-setting adjustments are made to the partial charges for atoms in specified bond types...
February 22, 2017: Journal of Physical Chemistry. B
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