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https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#1
John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand
Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098833/role-of-electron-driven-proton-transfer-processes-in-the-ultrafast-deactivation-of-photoexcited-anionic-8-oxoguanine-adenine-and-8-oxoguanine-cytosine-base-pairs
#2
Xiuxiu Wu, Tolga N V Karsili, Wolfgang Domcke
It has been reported that 8-oxo-7,8-dihydro-guanosine (8-oxo-G), which is the main product of oxidative damage of DNA, can repair cyclobutane pyrimidine dimer (CPD) lesions when incorporated into DNA or RNA strands in proximity to such lesions. It has therefore been suggested that the 8-oxo-G nucleoside may have been a primordial precursor of present-day flavins in DNA or RNA repair. Because the electron transfer leading to the splitting of a thymine-thymine pair in a CPD lesion occurs in the photoexcited state, a reasonably long excited-state lifetime of 8-oxo-G is required...
January 14, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28098831/a-fast-multimodal-ectopic-beat-detection-method-applied-for-blood-pressure-estimation-based-on-pulse-wave-velocity-measurements-in-wearable-sensors
#3
Maik Pflugradt, Kai Geissdoerfer, Matthias Goernig, Reinhold Orglmeister
Automatic detection of ectopic beats has become a thoroughly researched topic, with literature providing manifold proposals typically incorporating morphological analysis of the electrocardiogram (ECG). Although being well understood, its utilization is often neglected, especially in practical monitoring situations like online evaluation of signals acquired in wearable sensors. Continuous blood pressure estimation based on pulse wave velocity considerations is a prominent example, which depends on careful fiducial point extraction and is therefore seriously affected during periods of increased occurring extrasystoles...
January 14, 2017: Sensors
https://www.readbyqxmd.com/read/28098219/combined-lrrk2-mutation-aging-and-chronic-low-dose-oral-rotenone-as-a-model-of-parkinson-s-disease
#4
Hui-Fang Liu, Philip Wing-Lok Ho, Gideon Chi-Ting Leung, Colin Siu-Chi Lam, Shirley Yin-Yu Pang, Lingfei Li, Michelle Hiu-Wai Kung, David Boyer Ramsden, Shu-Leong Ho
Aging, genetics and environmental toxicity are important etiological factors in Parkinson's disease (PD). However, its pathogenesis remains unclear. A major obstacle is the lack of an appropriate experimental model which incorporates genetic susceptibility, aging and prolonged environmental toxicity. Here, we explored the interplay amongst these factors using mutant LRRK2(R1441G) (leucine-rich-repeat-kinase-2) knockin mice. We found that mutant primary cortical and mesencephalic dopaminergic neurons were more susceptible to rotenone-induced ATP deficiency and cell death...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28098196/enhanced-removal-of-as-v-from-aqueous-solution-using-modified-hydrous-ferric-oxide-nanoparticles
#5
Lijuan Huo, Xibai Zeng, Shiming Su, Lingyu Bai, Yanan Wang
Hydrous ferric oxide (HFO) is most effective with high treatment capacity on arsenate [As(V)] sorption although its transformation and aggregation nature need further improvement. Here, HFO nanoparticles with carboxymethyl cellulose (CMC) or starch as modifier was synthesized for the purpose of stability improvement and As(V) removal from water. Comparatively, CMC might be the optimum stabilizer for HFO nanoparticles because of more effective physical and chemical stability. The large-pore structure, high surface specific area, and the non-aggregated nature of CMC-HFO lead to increased adsorption sites, and thus high adsorption capacities of As(V) without pre-treatment (355 mg·g(-1)), which is much greater than those reported in previous studies...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28097872/a-dual-responsive-bola-type-supra-amphiphile-constructed-from-water-soluble-pillar-5-arene-and-naphthalimide-containing-amphiphile-for-intracellular-drug-delivery
#6
Xin Liu, Keke Jia, Yichen Wang, Wei Shao, Chenhao Yao, Luming Peng, Dongmei Zhang, Xiao-Yu Hu, Leyong Wang
Supramolecular construction of multi-stimuli platform for drug delivery is a challenging task. In this work, a pH and GSH (glutathione) dual-responsive bola-type supramolecular amphiphile was successfully fabricated by the complexation between a water-soluble pillar[5]arene (WP5) and a bolaform naphthalimide guest (G) in water. The resulting bola-type amphiphile further self-assembled into supramolecular binary vesicles, which could be disassembled by low pH and/or high GSH concentration environment. Furthermore, the results of drug loading and releasing tests showed that doxorubicin (DOX), the hydrophobic anticancer drug, could be successfully encapsulated into the Stern region of the obtained supramolecular vesicles and generated the DOX-loaded vesicles with good drug-loading efficiency...
January 18, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28097687/requirements-for-accurate-estimation-of-anisotropic-material-parameters-by-magnetic-resonance-elastography-a-computational-study
#7
D J Tweten, R J Okamoto, P V Bayly
PURPOSE: To establish the essential requirements for characterization of a transversely isotropic material by magnetic resonance elastography (MRE). THEORY AND METHODS: Three methods for characterizing nearly incompressible, transversely isotropic (ITI) materials were used to analyze data from closed-form expressions for traveling waves, finite-element (FE) simulations of waves in homogeneous ITI material, and FE simulations of waves in heterogeneous material. Key properties are the complex shear modulus μ2 , shear anisotropy ϕ=μ1/μ2-1, and tensile anisotropy ζ=E1/E2-1...
January 17, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28097686/context-characterization-of-amino-acid-homorepeats-using-evolution-position-and-order
#8
Pablo Mier, Gregorio Alanis-Lobato, Miguel A Andrade-Navarro
Amino acid repeats, or homorepeats, are low complexity protein motifs consisting of tandem repetitions of a single amino acid. Their presence and relative number vary in different proteomes, and some studies have tried to address this variation, proteome by proteome. In this work, we present a full characterization of amino acid homorepeats across evolution. We studied the presence and differential usage of each possible homorepeat in proteomes from various taxonomic groups, using clusters of very similar proteins to eliminate redundancy...
January 18, 2017: Proteins
https://www.readbyqxmd.com/read/28097635/treatment-of-functional-impairment-in-patients-with-bipolar-disorder
#9
REVIEW
Jose Sanchez-Moreno, Anabel Martinez-Aran, Eduard Vieta
Traditionally, functional impairment has received little attention in bipolar disorder, despite the fact that many patients experience significant impairments in daily life. In the last decade, research has changed its focus from clinical remission to functional recovery in bipolar patients as a priority. A literature review of this topic will allow us provide an overview of the relevance of functional impairment as well as the potential factors that can predict or contribute to low functioning in bipolar disorder (BD)...
January 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28097262/lessons-learned-over-a-decade-of-pediatric-robotic-ureteral-reimplantation
#10
REVIEW
Minki Baek, Chester J Koh
The da Vinci robotic system has improved surgeon dexterity, ergonomics, and visualization to allow for a minimally invasive option for complex reconstructive procedures in children. Over the past decade, robot-assisted laparoscopic ureteral reimplantation (RALUR) has become a viable minimally invasive surgical option for pediatric vesicoureteral reflux (VUR). However, higher-than-expected complication rates and suboptimal reflux resolution rates at some centers have also been reported. The heterogeneity of surgical outcomes may arise from the inherent and underestimated complexity of the RALUR procedure that may justify its reclassification as a complex reconstructive procedure and especially for robotic surgeons early in their learning curve...
January 2017: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/28097080/immunoglobulin-m-nephropathy-in-a-patient-with-wilson-s-disease
#11
Zain Ul Abideen, Zoya Sajjad, Asna Haroon Khan, Nadira Mamoon, Muhammad Bilal, Khaja Hameeduddin Mujtaba Quadri
Immunoglobulin M nephropathy (IgMN) is characterized by the deposition of immunoglobulin M in a dominant distribution in the renal glomeruli. Primary immunoglobulin M nephropathy is diagnosed after consistent light microscopy (LM), immunofluorescence (IF), electron microscopy (EM) results, and exclusion of known systemic disorders causing immunoglobulin M deposition in the glomeruli. The secondary disease has been reported with a few conditions though it has never been reported with any primary disease of the liver...
December 13, 2016: Curēus
https://www.readbyqxmd.com/read/28096640/prevalence-of-metabolic-syndrome-in-pre-and-post-menopausal-women-a-prospective-study-from-apex-institute-of-north-india
#12
Sandeep Sharma, Neelam Aggarwal, Bharti Joshi, Vanita Suri, Sanjay Badada
BACKGROUND: The metabolic syndrome (MS) (syndrome X, insulin resistance syndrome) is a constellation of metabolic abnormalities and a complex predisease state that predicts future development of type 2 diabetes mellitus and cardiovascular disease. Menopausal transition and postmenopausal state are considered as a vulnerable period for developing MS, and this increased risk has been attributed to decreasing estrogen levels with an increasing risk of insulin resistance following menopause...
October 2016: Journal of Mid-life Health
https://www.readbyqxmd.com/read/28096123/current-evidence-on-the-association-of-dietary-patterns-and-bone-health-a-scoping-review
#13
REVIEW
Elham Z Movassagh, Hassan Vatanparast
Nutrition is an important modifiable factor that affects bone health. Diet is a complex mixture of nutrients and foods that correlate or interact with each other. Dietary pattern approaches take into account contributions from various aspects of diet. Findings from dietary pattern studies could complement those from single-nutrient and food studies on bone health. In this study we aimed to conduct a scoping review of the literature that assessed the impact of dietary patterns (derived with the use of both a priori and data-driven approaches) on bone outcomes, including bone mineral status, bone biomarkers, osteoporosis, and fracture risk...
January 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28095880/high-throughput-expression-of-animal-venom-toxins-in-escherichia-coli-to-generate-a-large-library-of-oxidized-disulphide-reticulated-peptides-for-drug-discovery
#14
Jeremy Turchetto, Ana Filipa Sequeira, Laurie Ramond, Fanny Peysson, Joana L A Brás, Natalie J Saez, Yoan Duhoo, Marilyne Blémont, Catarina I P D Guerreiro, Loic Quinton, Edwin De Pauw, Nicolas Gilles, Hervé Darbon, Carlos M G A Fontes, Renaud Vincentelli
BACKGROUND: Animal venoms are complex molecular cocktails containing a wide range of biologically active disulphide-reticulated peptides that target, with high selectivity and efficacy, a variety of membrane receptors. Disulphide-reticulated peptides have evolved to display improved specificity, low immunogenicity and to show much higher resistance to degradation than linear peptides. These properties make venom peptides attractive candidates for drug development. However, recombinant expression of reticulated peptides containing disulphide bonds is challenging, especially when associated with the production of large libraries of bioactive molecules for drug screening...
January 17, 2017: Microbial Cell Factories
https://www.readbyqxmd.com/read/28095688/effect-of-gold-nanoparticle-size-and-coating-on-labeling-monocytes-for-ct-tracking
#15
Peter Chhour, Johoon Kim, Barbara Benardo, Alfredo Tovar, Shaameen Mian, Harold I Litt, Victor A Ferrari, David P Cormode
With advances in cell therapies, interest in cell tracking techniques to monitor the migration, localization, and viability of these cells continues to grow. X-ray computed tomography (CT) is a cornerstone of medical imaging but has been limited in cell tracking applications due to its low sensitivity toward contrast media. In this study, we investigate the role of size and surface functionality of gold nanoparticles for monocyte uptake to optimize the labeling of these cells for tracking in CT. We synthesized gold nanoparticles (AuNP) that range from 15 to 150 nm in diameter and examined several capping ligands, generating 44 distinct AuNP formulations...
January 18, 2017: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/28094995/photoluminescence-probing-of-complex-h2o-adsorption-on-ingan-gan-nanowires
#16
Konrad Maier, Andreas Helwig, Gerhard Muller, Pascal Hille, Jörg Teubert, Martin Eickhoff
We demonstrate that the complex adsorption behavior of H2O on InGaN/GaN nanowire arrays is directly revealed by their ambient-dependent photoluminescence properties. Under low-humidity, ambient-temperature, and low-excitation-light conditions, H2O adsorbates cause a quenching of the photoluminescence. In contrast, for high humidity levels, elevated temperature, and high excitation intensity, H2O adsorbates act as efficient photoluminescence enhancers. We show that this behavior, which can only be detected due to the low operation temperature of the InGaN/GaN nanowires, can be explained on the basis of single H2O adsorbates forming surface recombination centers and multiple H2O adsorbates forming surface passivation layers...
January 17, 2017: Nano Letters
https://www.readbyqxmd.com/read/28094986/improving-internal-cell-colonization-of-porous-scaffolds-with-chemical-gradients-produced-by-plasma-assisted-approaches
#17
Eloisa Sardella, Rania A Salama, Gihan H Waly, A Nour Habib, Pietro Favia, Roberto Gristina
Cell colonization of the surrounding environment is a very significant process in both physiological and pathological events. In order to understand the tissue regeneration process and thereby provide guidance principles for designing new biomaterials, it is of paramount importance to study the cell colonization in the presence of physical, chemical and biological cues. Flat "gradient" materials are generally used with this purpose. Three dimensional (3D) gradient scaffolds mimicking more precisely the situation in vivo, are somewhat more complex to fabricate and characterize...
January 17, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28094582/effects-of-arsenic-on-porcine-dendritic-cells-in-vitro
#18
Jalil Mehrzad, Mohamad Hosein Mahmudy Gharaie, Masumeh Taheri
Exposure to arsenic (As) is an ongoing, and in some places increasing, health problem. Still, however, the effects of As exposure on the immune system are not well understood. Dendritic cells (DC) are a critical immune cell that bridges the innate and adaptive immune systems. To determine the impact of inorganic (i)As exposure on DC, the effects of (geo)anthropogenically relevant levels of NaAsO2 on the function of porcine monocyte-derived DC (MoDC) were evaluated in an in vitro model. The results showed a low dose of iAs reduced the phagocytic capacity of MoDC...
January 17, 2017: Journal of Immunotoxicology
https://www.readbyqxmd.com/read/28094379/luminescent-aryl-group-eleven-metal-complexes
#19
José M López-de-Luzuriaga, Miguel Monge, M Elena Olmos
Among the coinage metal complexes displaying luminescent properties, those bearing C-donor aryl ligands have an increasing part in the chemistry of these metals. These types of ligands confer a high kinetic and thermodynamic stability on the complexes, but they can also be involved in the photoluminescent behaviour of the complexes. The development of new aryl-containing complexes of group eleven metals, the study of their photoluminescent properties and their related properties and applications are discussed in this perspective...
January 17, 2017: Dalton Transactions: An International Journal of Inorganic Chemistry
https://www.readbyqxmd.com/read/28094324/early-life-adversity-accelerates-cellular-ageing-and-affects-adult-inflammation-experimental-evidence-from-the-european-starling
#20
Daniel Nettle, Clare Andrews, Sophie Reichert, Tom Bedford, Claire Kolenda, Craig Parker, Carmen Martin-Ruiz, Pat Monaghan, Melissa Bateson
Early-life adversity is associated with accelerated cellular ageing during development and increased inflammation during adulthood. However, human studies can only establish correlation, not causation, and existing experimental animal approaches alter multiple components of early-life adversity simultaneously. We developed a novel hand-rearing paradigm in European starling nestlings (Sturnus vulgaris), in which we separately manipulated nutritional shortfall and begging effort for a period of 10 days. The experimental treatments accelerated erythrocyte telomere attrition and increased DNA damage measured in the juvenile period...
January 17, 2017: Scientific Reports
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