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https://www.readbyqxmd.com/read/28646613/novel-tmc8-splice-site-mutation-in-epidermodysplasia-verruciformis-and-review-of-hpv-infections-in-patients-with-the-disease
#1
E Imahorn, Z Yüksel, I Spoerri, G Gürel, C Imhof, Z N Saraçoğlu, A E Koku Aksu, P L Rady, S K Tyring, W Kempf, P H Itin, B Burger
BACKGROUND: Epidermodysplasia verruciformis (EV) is a genodermatosis leading to infections with cutaneous HPV, persistent plane warts and a high rate of non-melanoma skin cancer (NMSC). Biallelic loss-of-function mutations in TMC6 and TMC8 are known to be causative. OBJECTIVE: The aim of this study was to report EV-causing mutations in four patients with EV and to give an overview of all described EV patients. PATIENTS AND METHODS: We investigated four patients with classical features of EV from two families...
June 24, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28646556/injury-induced-maladaption-and-dysregulation-of-calcium-channel-alpha-2-delta-subunit-proteins-and-its-contribution-to-neuropathic-pain-development
#2
REVIEW
Nian Gong, John Park, Z David Luo
Voltage gated calcium channels (VGCCs) play important roles in physiological functions including modulations of neurotransmitter release, neuronal network activities, intracellular signaling pathways, and gene expression. Some pathological conditions, including nerve injuries, can cause dysregulation of VGCCs and their subunits. This in turn can lead to functional maladaption of VGCCs and their subunits, which can contribute to development of disorders such as pain sensations. This review summarized recent findings related to maladaptive changes of dysregulated VGCC alpha-2-delta-1 subunit (Cav α2 δ1 ) with a focus on exploration of mechanisms underlying contribution of Cav α2 δ1 to pain signal transduction...
June 23, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28646252/childhood-brain-tumors-a-systematic-review-of-the-structural-neuroimaging-literature
#3
REVIEW
Alyssa S Ailion, Kyle Hortman, Tricia Z King
Due to medical advances, a large portion of children survive brain tumor diagnosis and treatment. Therefore, it is important to identify the neuroanatomical and neurocognitive outcomes associated with survivorship. This review summarizes the specific regional structural neuroimaging findings, the broad structural findings, as well as the corresponding neurocognitive domains affected in brain tumor populations. Across studies, damage is commonly reported near the cerebellum, brain stem, and subcortical regions, as well as the frontal lobes...
June 23, 2017: Neuropsychology Review
https://www.readbyqxmd.com/read/28646097/highly-suggestive-preliminary-evidence-that-the-renal-interstitium-contracts-in%C3%A2-vivo
#4
Omar Flores-Sandoval, María Eugenia Sánchez-Briones, Juan F López-Rodríguez, Miriam Z Calvo-Turrubiartes, Lilia Llamazares-Azuara, Manuel Rodríguez-Martínez
To learn more about controlling renal interstitial hydrostatic pressure (RIHP), we assessed its response to renal medullary direct interstitial volume expansion (rmDIVE = 100 μL bolus infusion/30 sec). Three experimental series (S) were performed in hydropenic, anesthetized, right-nephrectomized, acute left renal-denervated and renal perfusion pressure-controlled rats randomly assigned to groups in each S. S1: Rats without hormonal clamp were contrasted before and after rmDIVE induced via 0.9% saline solution bolus (SS group) or 2% albumin in SS bolus (2% ALB + SS group)...
June 2017: Physiological Reports
https://www.readbyqxmd.com/read/28646076/transcriptomic-and-proteomic-profiling-provides-insight-into-mesangial-cell-function-in-iga-nephropathy
#5
Peidi Liu, Emelie Lassén, Viji Nair, Celine C Berthier, Miyuki Suguro, Carina Sihlbom, Matthias Kretzler, Christer Betsholtz, Börje Haraldsson, Wenjun Ju, Kerstin Ebefors, Jenny Nyström
IgA nephropathy (IgAN), the most common GN worldwide, is characterized by circulating galactose-deficient IgA (gd-IgA) that forms immune complexes. The immune complexes are deposited in the glomerular mesangium, leading to inflammation and loss of renal function, but the complete pathophysiology of the disease is not understood. Using an integrated global transcriptomic and proteomic profiling approach, we investigated the role of the mesangium in the onset and progression of IgAN. Global gene expression was investigated by microarray analysis of the glomerular compartment of renal biopsy specimens from patients with IgAN (n=19) and controls (n=22)...
June 23, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28646017/ror%C3%AE-modulates-semaphorin-3e-transcription-and-neurovascular-interaction-in-pathological-retinal-angiogenesis
#6
Ye Sun, Chi-Hsiu Liu, Zhongxiao Wang, Steven S Meng, Samuel B Burnim, John Paul SanGiovanni, Theodore M Kamenecka, Laura A Solt, Jing Chen
Pathological proliferation of retinal blood vessels commonly causes vision impairment in proliferative retinopathies, including retinopathy of prematurity. Dysregulated crosstalk between the vasculature and retinal neurons is increasingly recognized as a major factor contributing to the pathogenesis of vascular diseases. Class 3 semaphorins (SEMA3s), a group of neuron-secreted axonal and vascular guidance factors, suppress pathological vascular growth in retinopathy. However, the upstream transcriptional regulators that mediate the function of SEMA3s in vascular growth are poorly understood...
June 23, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28645917/multivalent-binding-of-pwwp2a-to-h2a-z-regulates-mitosis-and-neural-crest-differentiation
#7
Sebastian Pünzeler, Stephanie Link, Gabriele Wagner, Eva C Keilhauer, Nina Kronbeck, Ramona Mm Spitzer, Susanne Leidescher, Yolanda Markaki, Edith Mentele, Catherine Regnard, Katrin Schneider, Daisuke Takahashi, Masayuki Kusakabe, Chiara Vardabasso, Lisa M Zink, Tobias Straub, Emily Bernstein, Masahiko Harata, Heinrich Leonhardt, Matthias Mann, Ralph Aw Rupp, Sandra B Hake
Replacement of canonical histones with specialized histone variants promotes altering of chromatin structure and function. The essential histone variant H2A.Z affects various DNA-based processes via poorly understood mechanisms. Here, we determine the comprehensive interactome of H2A.Z and identify PWWP2A as a novel H2A.Z-nucleosome binder. PWWP2A is a functionally uncharacterized, vertebrate-specific protein that binds very tightly to chromatin through a concerted multivalent binding mode. Two internal protein regions mediate H2A...
June 23, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28645880/biomarkers-of-airway-and-systemic-inflammation-in-obese-asthmatic-paediatric-patients
#8
H T Nacaroglu, O B Gayret, M Erol, O Buke, O Zengi, M Tasdemir, Z Tasdemir, O Yigit
BACKGROUND: It is thought that airway inflammation is more common in obese asthmatic patients because inflammation is harder to control and does not respond well to glucocorticoid treatment. OBJECTIVE: This study's aim was to investigate the effect of obesity on airway and systemic inflammation in children with asthma and to identify the biomarkers that play a role in this inflammation. METHODS: The study included patients aged 6-16 years who were diagnosed with asthma in the paediatric allergy outpatient clinic of Bagcilar Training and Research Hospital in Turkey...
June 20, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28645855/training-surgical-residents-with-a-haptic-robotic-central-venous-catheterization-simulator
#9
David F Pepley, Adam B Gordon, Mary A Yovanoff, Katelin A Mirkin, Scarlett R Miller, David C Han, Jason Z Moore
OJECTIVE: Ultrasound guided central venous catheterization (CVC) is a common surgical procedure with complication rates ranging from 5 to 21 percent. Training is typically performed using manikins that do not simulate anatomical variations such as obesity and abnormal vessel positioning. The goal of this study was to develop and validate the effectiveness of a new virtual reality and force haptic based simulation platform for CVC of the right internal jugular vein. DESIGN: A CVC simulation platform was developed using a haptic robotic arm, 3D position tracker, and computer visualization...
June 20, 2017: Journal of Surgical Education
https://www.readbyqxmd.com/read/28645680/collection-processing-and-freezing-of-equine-bone-marrow-cells
#10
Fernanda Z Bastos, Fernanda C M Barussi, Thasla F Santi, Bianca P Vieira, Alexandra C Senegaglia, Fernanda F Cruz, Pedro V Michelotto
There is no consensus on aspects of equine bone marrow collection and processing. The study aimed to describe the collection of large volumes of bone marrow from horses of advanced age, with emphasis on bone marrow mononuclear cells (BMMCs) recovery and viability after cryopreservation. Fourteen horses, aged 3-24 years, were divided into three experiments. E1 studied the feasibility of collecting 200 mL from the sternums of horses of advanced age; E2 examined the number of cells obtained from the first and last syringe of each puncture; and E3 investigated the influence of heparin concentration on the prevention of cell aggregation, and cell viability after freezing in liquid nitrogen...
June 20, 2017: Cryobiology
https://www.readbyqxmd.com/read/28645452/thrust-magnitudes-rates-and-3-dimensional-directions-delivered-in-simulated-lumbar-spine-high-velocity-low-amplitude-manipulation
#11
Edward F Owens, Ronald S Hosek, Linda Mullin, Lydia Dever, Stephanie G B Sullivan, Brent S Russell
OBJECTIVES: The purpose of this study was to measure faculty performance of simulated spinal manipulation on a mannequin to help identify teaching standards. METHODS: We measured 3-dimensional transmitted loads using a force plate mounted in the table. Thrusts were delivered through a compliant, jointed mannequin by faculty members along predefined "listings" as taught in lumbopelvic technique courses. RESULTS: Eleven chiropractic faculty members participated, delivering 9 thrusts at 3 loads (light, moderate, and heavy) along 9 different prone and side-posture listings, totaling 81 thrusts per participant...
June 20, 2017: Journal of Manipulative and Physiological Therapeutics
https://www.readbyqxmd.com/read/28645330/screen-based-sedentary-behavior-during-adolescence-and-pulmonary-function-in-a-birth-cohort
#12
Bruna Gonçalves C da Silva, Ana M B Menezes, Fernando C Wehrmeister, Fernando C Barros, Michael Pratt
BACKGROUND: Adolescents spend many hours in sitting activities as television viewing, video game playing and computer use. The relationship between sedentary behavior and respiratory health remains poorly elucidated. To date there have been no studies evaluating the relationship between sedentary behavior and pulmonary function in young populations. The purpose of this study is to examine the association between the trajectory of screen-based sedentary behavior from 11 to 18 years and pulmonary function at 18 years in a Brazilian birth cohort...
June 23, 2017: International Journal of Behavioral Nutrition and Physical Activity
https://www.readbyqxmd.com/read/28645148/a-soft-environmental-control-effect-of-apatite-doped-with-mineral-traces-in-the-fowl-droppings
#13
M Minamisawa, T Taniai, S Yoshida
Fowl-dropping apatite (Ca10-z[PO4]6-z[OH]2-z) synthesized from carbonized, incinerated fowl droppings contains PO4 and OH groups that are partially substituted by CO32- ions. It shows stronger ion conductivity than commercially available hydroxyapatite in a wide range of temperatures from 23°C to 800°C. Fowl-dropping apatite readily adsorbs NO2 and SO2 gases and, without re-releasing these gases, slowly decomposes them at room temperature under sunlight via ultraviolet-visible (UV-Vis) irradiation. A limited amount of minerals and organics contained in fowl droppings causes light-induced activities in fowl-dropping apatite with a crystal structure that has a developed c face; this initiates excitation-induced atomic transfer on the solid surface derived from PO4 exposed on the c face, which then advances the decomposition reaction...
June 21, 2017: Poultry Science
https://www.readbyqxmd.com/read/28645096/incidental-focal-uptake-in-the-breast-and-axilla-on-fdg-pet-clinical-considerations-and-differential-diagnosis
#14
Andrea L Magee, Brittany Z Dashevsky, Kayleen Jahangir, Kirti Kulkarni
Incidental focal FDG uptake in the breast or axilla on PET/CT performed for evaluation of extra-mammary primary disease presents a diagnostic challenge. Radiologists must consider a broad differential diagnosis, assess clinical history, and judiciously employ other imaging modalities such as mammography, ultrasound and MRI in the pursuit of findings which help narrow the differential diagnosis. Tissue sampling may be reserved for nondiagnostic imaging scenarios.
June 15, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28644994/is-the-systematic-circumferential-tumor-cavity-shaving-a-representative-sample-for-the-remaining-mammary-gland-about-75-cases
#15
H Bouzaiene, A Triki, M Ghalleb, M Chemlali, Z Benzarti, J Ben Hassouna, A Gammoudi, K Rahal
INTRODUCTION: The conservative surgery is more and more indicated for breast cancer. However, we still fear local recurrence which is mostly due to residual tumors?. Several techniques have been used to minimize theses residual tumors; one of them is the systematic circumferential tumor cavity shaving (SCTCS). METHODS: We sampled 75 female patients who had conservative surgery with positive shaved margins in the anatomopathology examination and to whom a complementary treatment with mastectomy have been decided...
June 20, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28644993/long-term-toxicity-of-surface-charged-polystyrene-nanoplastics-to-marine-planktonic-species-dunaliella-tertiolecta-and-artemia-franciscana
#16
E Bergami, S Pugnalini, M L Vannuccini, L Manfra, C Faleri, F Savorelli, K A Dawson, I Corsi
Plastic pollution has been globally recognized as a critical issue for marine ecosystems and nanoplastics constitute one of the last unexplored areas to understand the magnitude of this threat. However, current difficulties in sampling and identifying nano-sized debris make hard to assess their occurrence in marine environment. Polystyrene nanoparticles (PS NPs) are largely used as nanoplastics in ecotoxicological studies and although acute exposures have been already investigated, long-term toxicity on marine organisms is unknown...
June 15, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28644909/a-highly-efficient-synthesis-of-z-macrocycles-using-stereoretentive-ruthenium-based-metathesis-catalysts
#17
Tonia Sarah Ahmed, Robert H Grubbs
A highly efficient, Z-selective ring-closing metathesis system for the formation of macrocycles using a stereoretentive, ruthenium-based catalyst supported by a dithiolate ligand is reported. This catalyst is demonstrated to be remarkably active as observed in initiation experiments showing complete catalyst initiation at -20 °C within 10 min. Macrocyclization reactions generated Z-products from easily accessible diene starting materials bearing a Z-olefin moiety. This stereoretentive approach provides a more efficient and selective route to Z-macrocyles than in previously reported systems...
June 23, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28644674/constraints-on-oscillation-parameters-from-%C3%AE-_-e-appearance-and-%C3%AE-_-%C3%AE-disappearance-in-nova
#18
P Adamson, L Aliaga, D Ambrose, N Anfimov, A Antoshkin, E Arrieta-Diaz, K Augsten, A Aurisano, C Backhouse, M Baird, B A Bambah, K Bays, B Behera, S Bending, R Bernstein, V Bhatnagar, B Bhuyan, J Bian, T Blackburn, A Bolshakova, C Bromberg, J Brown, G Brunetti, N Buchanan, A Butkevich, V Bychkov, M Campbell, E Catano-Mur, S Childress, B C Choudhary, B Chowdhury, T E Coan, J A B Coelho, M Colo, J Cooper, L Corwin, L Cremonesi, D Cronin-Hennessy, G S Davies, J P Davies, P F Derwent, R Dharmapalan, P Ding, Z Djurcic, E C Dukes, H Duyang, S Edayath, R Ehrlich, G J Feldman, M J Frank, M Gabrielyan, H R Gallagher, S Germani, T Ghosh, A Giri, R A Gomes, M C Goodman, V Grichine, R Group, D Grover, B Guo, A Habig, J Hartnell, R Hatcher, A Hatzikoutelis, K Heller, A Himmel, A Holin, J Hylen, F Jediny, M Judah, G K Kafka, D Kalra, S M S Kasahara, S Kasetti, R Keloth, L Kolupaeva, S Kotelnikov, I Kourbanis, A Kreymer, A Kumar, S Kurbanov, K Lang, W M Lee, S Lin, J Liu, M Lokajicek, J Lozier, S Luchuk, K Maan, S Magill, W A Mann, M L Marshak, K Matera, V Matveev, D P Méndez, M D Messier, H Meyer, T Miao, W H Miller, S R Mishra, R Mohanta, A Moren, L Mualem, M Muether, S Mufson, R Murphy, J Musser, J K Nelson, R Nichol, E Niner, A Norman, T Nosek, Y Oksuzian, A Olshevskiy, T Olson, J Paley, P Pandey, R B Patterson, G Pawloski, D Pershey, O Petrova, R Petti, S Phan-Budd, R K Plunkett, R Poling, B Potukuchi, C Principato, F Psihas, A Radovic, R A Rameika, B Rebel, B Reed, D Rocco, P Rojas, V Ryabov, K Sachdev, P Sail, O Samoylov, M C Sanchez, R Schroeter, J Sepulveda-Quiroz, P Shanahan, A Sheshukov, J Singh, J Singh, P Singh, V Singh, J Smolik, N Solomey, E Song, A Sousa, K Soustruznik, M Strait, L Suter, R L Talaga, M C Tamsett, P Tas, R B Thayyullathil, J Thomas, X Tian, S C Tognini, J Tripathi, A Tsaris, J Urheim, P Vahle, J Vasel, L Vinton, A Vold, T Vrba, B Wang, M Wetstein, D Whittington, S G Wojcicki, J Wolcott, N Yadav, S Yang, J Zalesak, B Zamorano, R Zwaska
Results are reported from an improved measurement of ν_{μ}→ν_{e} transitions by the NOvA experiment. Using an exposure equivalent to 6.05×10^{20} protons on target, 33 ν_{e} candidates are observed with a background of 8.2±0.8 (syst.). Combined with the latest NOvA ν_{μ} disappearance data and external constraints from reactor experiments on sin^{2}2θ_{13}, the hypothesis of inverted mass hierarchy with θ_{23} in the lower octant is disfavored at greater than 93% C.L. for all values of δ_{CP}.
June 9, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28644657/zhao-et%C3%A2-al-reply
#19
J Z Zhao, W Fan, M J Verstraete, Z Zanolli, J Fan, X B Yang, H Xu, S Y Tong
No abstract text is available yet for this article.
June 9, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28644656/entanglement-enhanced-phase-estimation-without-prior-phase-information
#20
G Colangelo, F Martin Ciurana, G Puentes, M W Mitchell, R J Sewell
We study the generation of planar quantum squeezed (PQS) states by quantum nondemolition (QND) measurement of an ensemble of ^{87}Rb atoms with a Poisson distributed atom number. Precise calibration of the QND measurement allows us to infer the conditional covariance matrix describing the F_{y} and F_{z} components of the PQS states, revealing the dual squeezing characteristic of PQS states. PQS states have been proposed for single-shot phase estimation without prior knowledge of the likely values of the phase...
June 9, 2017: Physical Review Letters
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