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https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#1
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098908/protective-effects-of-ethyl-pyruvate-on-lipopolysaccharide%C3%A2-induced-acute-lung-injury-through-inhibition-of-autophagy-in-neutrophils
#2
Qingteng Zhu, Hui Wang, Hairong Wang, Yong Luo, Yang Yu, Qirong Du, Aihua Fei, Shuming Pan
Among a number of clinical factors, bacterial infection is one of the most common causes of acute lung injury (ALI), a serious complication that carries a high risk of mortality (~40%). During the process of ALI, intense local and systemic inflammation is elicited, which exacerbates the injury. Neutrophil infiltration into airspace is observed in early stage of ALI, and is required for the full development of ALI through an array of mechanisms, including the release of granule contents and the production of pro‑inflammatory cytokines, due to the overactivation of complement and cytokines...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098821/tumor-microenvironment-modulation-via-gold-nanoparticles-targeting-malicious-exosomes-implications-for-cancer-diagnostics-and-therapy
#3
REVIEW
Catarina Roma-Rodrigues, Luís R Raposo, Rita Cabral, Fabiana Paradinha, Pedro V Baptista, Alexandra R Fernandes
Exosomes are nanovesicles formed in the endosomal pathway with an important role in paracrine and autocrine cell communication. Exosomes secreted by cancer cells, malicious exosomes, have important roles in tumor microenvironment maturation and cancer progression. The knowledge of the role of exosomes in tumorigenesis prompted a new era in cancer diagnostics and therapy, taking advantage of the use of circulating exosomes as tumor biomarkers due to their stability in body fluids and targeting malignant exosomes' release and/or uptake to inhibit or delay tumor development...
January 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28098771/breast-cancer-brain-metastases-clonal-evolution-in-clinical-context
#4
REVIEW
Jodi M Saunus, Amy E McCart Reed, Zhun Leong Lim, Sunil R Lakhani
Brain metastases are highly-evolved manifestations of breast cancer arising in a unique microenvironment, giving them exceptional adaptability in the face of new extrinsic pressures. The incidence is rising in line with population ageing, and use of newer therapies that stabilise metastatic disease burden with variable efficacy throughout the body. Historically, there has been a widely-held view that brain metastases do not respond to circulating therapeutics because the blood-brain-barrier (BBB) restricts their uptake...
January 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28098745/effect-of-freeze-dried-allograft-bone-with-human-basic-fibroblast-growth-factor-containing-a-collagen-binding-domain-from-clostridium-histolyticum-collagenase-on-bone-formation-after-lumbar-posterolateral-fusion-surgery-in-rats
#5
Gen Inoue, Kentaro Uchida, Osamu Matsushita, Hisako Fujimaki, Wataru Saito, Masayuki Miyagi, Hiroyuki Sekiguchi, Nozomu Nishi, Seiji Ohtori, Mizuki Yogoro, Masashi Takaso
STUDY DESIGN: An experimental study. OBJECTIVE: To evaluate the effectiveness of freeze-dried bone allograft (FDBA) with basic fibroblast growth factor (bFGF) fused with the polycystic kidney disease domain (PKD) and the collagen-biding domain (CBD) of Clostridium histolyticum collagenase, for the acceleration of lumbar posterolateral fusion in rats. SUMMARY OF BACKGROUND DATA: Reports indicate bFGF is an effective growth factor with osteogenic potential for promoting bone regeneration, although its efficiency decreases rapidly following its diffusion in body fluid from the host site...
January 16, 2017: Spine
https://www.readbyqxmd.com/read/28098734/multimodal-fundus-imaging-of-outer-retinal-tubulations-in-choroidal-osteoma-patients
#6
Yi Xuan, Yongjin Zhang, Min Wang, Jinli Guo, Lei Li, Wei Liu, Xiaofeng Ye
PURPOSE: To evaluate the morphological findings of outer retinal tubulations (ORTs) shown on multimodal imaging modalities in patients with choroidal osteoma. METHODS: Nineteen eyes of 17 patients with choroidal osteoma underwent full clinical and imaging assessments. Color fundus photography, spectral-domain optical coherence tomography (OCT), and en face OCT were used to identify and detect the characteristics of ORT structures, including the shape, configuration, location, and distribution in the fundus...
January 16, 2017: Retina
https://www.readbyqxmd.com/read/28098725/how-vitreomacular-interface-modifies-the-efficacy-of-anti-vegf-therapy-for-myopic-choroidal-neovascularization
#7
Pierluigi Iacono, Maurizio Battaglia Parodi, Lorenzo Iuliano, Francesco Bandello
PURPOSE: To evaluate the efficacy of intravitreal ranibizumab in the treatment of myopic choroidal neovascularization (mCNV) complicated by vitreoretinal interface alterations. METHODS: Thirty-two patients affected by mCNV and concurrent vitreoretinal interface disorders, including macular epiretinal membrane (18 patients), lamellar macular hole (4 patients), full-thickness macular hole (1 patient), broad/focal vitreomacular traction (3 patients), broad/focal vitreomacular adhesion (4 patients), and myopic foveoschisis (2 patients), were enrolled in a prospective study...
January 16, 2017: Retina
https://www.readbyqxmd.com/read/28098621/long-term-follow-up-of-retinal-pigment-epithelium-restoration-after-a-triple-tear
#8
Sarwar Zahid, Rosa Dolz Marco, K Bailey Freund
PURPOSE: To demonstrate longitudinal multimodal imaging findings in a case of neovascular age-related macular degeneration presenting with multiple retinal pigment epithelium (RPE) tears showing progressive RPE restoration. METHODS: Observational clinical case report. RESULTS: A 79-year-old woman diagnosed with neovascular age-related macular degeneration developed 3 consecutive RPE tears in her right eye during the course of treatment with intravitreal anti-vascular endothelial growth factor therapy...
December 19, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28098559/lattice-boltzmann-simulations-of-the-bead-spring-microswimmer-with-a-responsive-stroke-from-an-individual-to-swarms
#9
Kristina Pickl, Jayant Pande, Harald Köstler, Ulrich Rüde, Ana-Suncana Smith
Propulsion at low Reynolds numbers is often studied by defining artificial microswimmers which exhibit a particular stroke. The disadvantage of such an approach is that the stroke does not adjust to the environment, in particular the fluid flow, which can diminish the effect of hydrodynamic interactions. To overcome this limitation, we simulate a microswimmer consisting of three beads connected by springs and dampers, using the self-developed waLBerla and <i>pe</i> framework based on the lattice Boltzmann method and the discrete element method...
January 18, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/28098465/rejection-of-commonly-used-electrolyte-in-asymmetric-flow-field-flow-fractionation-effects-of-membrane-molecular-weight-cut-off-size-fluid-dynamics-and-valence-of-electrolytes
#10
Thilak K Mudalige, Haiou Qu, Sean W Linder
Asymmetric flow field flow fractionation (AF4) is an efficient size based separation technique for the characterization of submicron size particulates. In AF4, membranes having various molecular weight cut-off sizes are used as a barrier to retain particles while allowing carrier fluid containing electrolytes to permeate. Here, we hypothesized that electrolyte rejection by the barrier membrane lead to the accumulation of the electrolytes in the channel during operation. Electrolyte accumulation can cause various adverse effects which can lead to membrane fouling...
January 18, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/28098358/subclinical-alteration-of-the-cervical-vaginal-microbiome-in-women-with-idiopathic-infertility
#11
Giuseppina Campisciano, Fiorella Florian, Angela D'Eustacchio, David Stanković, Giuseppe Ricci, Manola Comar
Biomarkers have a wide application in research and clinic, they help to choose the correct treatment for diseases. Recent studies, addressing the vaginal microbiome using next generation sequencing (NGS), reported the involvement of bacterial species in infertility. We compared the vaginal microbiome of idiopathic infertility diagnosed women with that of healthy, non-idiopathic infertile and bacterial vaginosis affected women, to identify bacterial species suitable as biomarkers. Information on microorganisms was obtained from the V3-16S rDNA sequencing of cervical-vaginal fluids of 96 women using the Ion Torrent platform...
January 18, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28098355/a-comparative-study-on-composition-and-antioxidant-activities-of-supercritical-carbon-dioxide-hexane-and-ethanol-extracts-from-blackberry-rubus-fruticosus-growing-in-poland
#12
Anna Wajs-Bonikowska, Agnieszka Stobiecka, Radosław Bonikowski, Agnieszka Krajewska, Magdalena Sikora, Józef Kula
BACKGROUND: Large quantities of blackberry seeds are produced as a pomace during the processing of juice and jam production - this by-product is a very interesting raw material both for oil manufacturing and as a source of bioactive compounds. In this work the composition, yield and antioxidant activity of three types of Rubus fructicosus pomace extracts isolated by liquid-extraction using solvents of different polarity, as well with supercritical CO2 fluid extraction have been compared...
January 18, 2017: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/28098348/impact-of-lysosomal-storage-disorders-on-biology-of-mesenchymal-stem-cells-evidences-from-in-vitro-silencing-of-glucocerebrosidase-gba-and-alpha-galactosidase-a-gla-enzymes
#13
T Squillaro, I Antonucci, N Alessio, A Esposito, M Cipollaro, Mab Melone, G Peluso, L Stuppia, U Galderisi
Lysosomal storage disorders (LDS) comprise a group of rare multisystemic diseases resulting from inherited gene mutations that impair lysosomal homeostasis. The most common LSDs, Gaucher disease (GD) and Fabry disease (FD) are caused by deficiencies in the lysosomal glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes, respectively. Given the systemic nature of enzyme deficiency, we hypothesized that the stem cell compartment of GD and FD patients might be also affected. Among stem cells, mesenchymal stem cells (MSCs) are a commonly investigated population given their role in hematopoiesis and the homeostatic maintenance of many organs and tissues...
January 18, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28098315/a-ph-responsive-wormlike-micellar-system-of-a-noncovalent-interaction-based-surfactant-with-a-tunable-molecular-structure
#14
Wanli Kang, Pengxiang Wang, Haiming Fan, Hongbin Yang, Caili Dai, Xia Yin, Yilu Zhao, Shujun Guo
Responsive wormlike micelles are very useful in a number of applications, whereas it is still challenging to create dramatic viscosity changes in wormlike micellar systems. Here we developed a pH-responsive wormlike micellar system based on a noncovalent constructed surfactant, which is formed by the complexation of N-erucamidopropyl-N,N-dimethylamine (UC22AMPM) and citric acid at the molar ratio of 3 : 1 (EACA). The phase behavior, aggregate microstructure and viscoelasticity of EACA solutions were investigated by macroscopic appearance observation, rheological and cryo-TEM measurements...
January 18, 2017: Soft Matter
https://www.readbyqxmd.com/read/28098306/effective-viscosity-and-dynamics-of-spreading-epithelia-a-solvable-model
#15
C Blanch-Mercader, R Vincent, E Bazellières, X Serra-Picamal, X Trepat, J Casademunt
Collective cell migration in spreading epithelia in controlled environments has become a landmark in our current understanding of fundamental biophysical processes in development, regeneration, wound healing or cancer. Epithelial monolayers are treated as thin layers of a viscous fluid that exert active traction forces on the substrate. The model is exactly solvable and shows a broad range of applicabilities for the quantitative analysis and interpretation of force microscopy data of monolayers from a variety of experiments and cell lines...
January 18, 2017: Soft Matter
https://www.readbyqxmd.com/read/28098297/spontaneous-assembly-of-a-hybrid-crystal-liquid-phase-in-inverse-patchy-colloid-systems
#16
Silvano Ferrari, Emanuela Bianchi, Gerhard Kahl
Materials with well-defined architectures are heavily sought after in view of their diverse technological applications. Among the desired target architectures, lamellar phases stand out for their exceptional mechanical and optical features. Here we show that charged colloids, decorated on their poles with two oppositely charged regions possess the unusual ability to spontaneously assemble in different morphologies of (semi-)ordered, layered particle arrangements which maintain their structural stability over a surprisingly large temperature range...
January 18, 2017: Nanoscale
https://www.readbyqxmd.com/read/28098185/hydrocarbons-in-phlogopite-from-kasenyi-kamafugitic-rocks-sw-uganda-cross-correlated-afm-confocal-microscopy-and-raman-imaging
#17
Daniele Moro, Giovanni Valdrè, Ernesto Mesto, Fernando Scordari, Maria Lacalamita, Giancarlo Della Ventura, Fabio Bellatreccia, Salvatore Scirè, Emanuela Schingaro
This study presents a cross-correlated surface and near surface investigation of two phlogopite polytypes from Kasenyi kamafugitic rocks (SW Uganda) by means of advanced Atomic Force Microscopy (AFM), confocal microscopy and Raman micro-spectroscopy. AFM revealed comparable nanomorphology and electrostatic surface potential for the two mica polytypes. A widespread presence of nano-protrusions located on the mica flake surface was also observed, with an aspect ratio (maximum height/maximum width) from 0.01 to 0...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28098180/an-aposymbiotic-primary-coral-polyp-counteracts-acidification-by-active-ph-regulation
#18
Yoshikazu Ohno, Akira Iguchi, Chuya Shinzato, Mayuri Inoue, Atsushi Suzuki, Kazuhiko Sakai, Takashi Nakamura
Corals build their skeletons using extracellular calcifying fluid located in the tissue-skeleton interface. However, the mechanism by which corals control the transport of calcium and other ions from seawater and the mechanism of constant alkalization of calcifying fluid are largely unknown. To address these questions, we performed direct pH imaging at calcification sites (subcalicoblastic medium, SCM) to visualize active pH upregulation in live aposymbiotic primary coral polyps treated with HCl-acidified seawater...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28098159/fluid-shear-stress-activates-yap1-to-promote-cancer-cell-motility
#19
Hyun Jung Lee, Miguel F Diaz, Katherine M Price, Joyce A Ozuna, Songlin Zhang, Eva M Sevick-Muraca, John P Hagan, Pamela L Wenzel
Mechanical stress is pervasive in egress routes of malignancy, yet the intrinsic effects of force on tumour cells remain poorly understood. Here, we demonstrate that frictional force characteristic of flow in the lymphatics stimulates YAP1 to drive cancer cell migration; whereas intensities of fluid wall shear stress (WSS) typical of venous or arterial flow inhibit taxis. YAP1, but not TAZ, is strictly required for WSS-enhanced cell movement, as blockade of YAP1, TEAD1-4 or the YAP1-TEAD interaction reduces cellular velocity to levels observed without flow...
January 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28098073/classical-density-functional-study-of-wetting-transitions-on-nanopatterned-surfaces
#20
P Yatsyshin, A O Parry, C Rascón, S Kalliadasis
Even simple fluids on simple substrates can exhibit very rich surface phase behaviour. To illustrate this, we consider fluid adsorption on a planar wall chemically patterned with a deep stripe of a different material. In this system, two phase transitions compete: unbending and pre-wetting. Using microscopic density-functional theory, we show that, for thin stripes, the lines of these two phase transitions may merge, leading to a new two-dimensional-like wetting transition occurring along the walls. The influence of intermolecular forces and interfacial fluctuations on this phase transition and at complete pre-wetting are considered in detail...
January 18, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
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