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https://www.readbyqxmd.com/read/28110515/missense-variant-in-uba2-associated-with-aplasia-cutis-congenita-duane-anomaly-hip-dysplasia-and-other-anomalies-a-possible-new-disorder-involving-the-sumoylation-pathway
#1
Michael Marble, Maria J Guillen Sacoto, Rashmi Chikarmane, Dominic Gargiulo, Jane Juusola
We report a patient with aplasia cutis congenita, Duane anomaly, hip dysplasia, and other anomalies who had a de novo missense variant in UBA2, which encodes for a protein involved in the SUMOylation pathway. It has previously been suggested that UBA2 haploinsufficiency underlies scalp defects in the 19q13.11 deletion syndrome. We propose that disturbance of the SUMOylation pathway, mediated by pathogenic variants in UBA2, is a novel mechanism for aplasia cutis congenita and other phenotypic abnormalities. © 2016 Wiley Periodicals, Inc...
January 22, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28110459/calcium-phosphate-ceramics-and-polysaccharide-based-hydrogel-scaffolds-combined-with-mesenchymal-stem-cell-differently-support-bone-repair-in-rats
#2
Sophie Frasca, Françoise Norol, Catherine Le Visage, Jean-Marc Collombet, Didier Letourneur, Xavier Holy, Elhadi Sari Ali
Research in bone tissue engineering is focused on the development of alternatives to autologous bone grafts for bone reconstruction. Although multiple stem cell-based products and biomaterials are currently being investigated, comparative studies are rarely achieved to evaluate the most appropriate approach in this context. Here, we aimed to compare different clinically relevant bone tissue engineering methods and evaluated the kinetic repair and the bone healing efficiency supported by mesenchymal stem cells and two different biomaterials, a new hydrogel scaffold and a commercial hydroxyapatite/tricalcium phosphate ceramic, alone or in combination...
February 2017: Journal of Materials Science. Materials in Medicine
https://www.readbyqxmd.com/read/28110458/experimental-evaluation-of-new-chitin-chitosan-graft-for-duraplasty
#3
M Pogorielov, A Kravtsova, G C Reilly, V Deineka, G Tetteh, O Kalinkevich, O Pogorielova, R Moskalenko, G Tkach
Natural materials such as collagen and alginate have promising applications as dural graft substitutes. These materials are able to restore the dural defect and create optimal conditions for the development of connective tissue at the site of injury. A promising material for biomedical applications is chitosan-a linear polysaccharide obtained by the deacetylation of chitin. It has been found to be nontoxic, biodegradable, biofunctional and biocompatible in addition to having antimicrobial characteristics. In this study we designed new chitin-chitosan substitutes for dura mater closure and evaluated their effectiveness and safety...
February 2017: Journal of Materials Science. Materials in Medicine
https://www.readbyqxmd.com/read/28110336/new-territory-for-an-old-disease-5-alpha-reductase-type-2-deficiency-in-bulgaria
#4
Silvia Andonova, Ralitsa Robeva, Radoslava Vazharova, Susanne Ledig, Liliana Grozdanova, Elisaveta Stefanova, Irena Bradinova, Tihomir Todorov, George Hadjidekov, Milko Sirakov, Peter Wiacker, Philip Kumanov, Alexey Savov
Disorders/differences of sexual development (DSD) are a group of conditions, some of which can be clinically indistinguishable mainly due to their phenotypic variability. Defining the molecular basis of their wide spectrum is still in progress. The diagnosis of 5-alpha-reductase type 2 (5α-reductase-2) deficiency is difficult especially in newborns and pre-pubertal individuals, and as a result its frequency might be underestimated. In the present study, we describe the clinical characteristics and molecular defects in 3 nonrelated 5α-reductase-2 deficiency patients of Bulgarian descent...
January 21, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28110332/role-of-insulin-in-placental-transport-of-nutrients-in-gestational-diabetes-mellitus
#5
María Ruiz-Palacios, Antonio José Ruiz-Alcaraz, María Sanchez-Campillo, Elvira Larqué
BACKGROUND: Gestational diabetes mellitus (GDM) is associated with increased fetal adiposity, which may increase the risk of obesity in adulthood. The placenta has insulin receptors and maternal insulin can activate its signaling pathways, affecting the transport of nutrients to the fetus. However, the effects of diet or insulin treatment on the placental pathophysiology of GDM are unknown. SUMMARY: There are very few studies on possible defects in the insulin signaling pathway in the GDM placenta...
January 21, 2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28110310/impact-of-an-expanded-hospital-recognition-program-for-stroke-quality-of-care
#6
Paul A Heidenreich, Xin Zhao, Adrian F Hernandez, Lee H Schwamm, Eric Smith, Mat Reeves, Eric D Peterson, Gregg C Fonarow
BACKGROUND: In 2009, the Get With The Guidelines-Stroke (GWTG-Stroke) program offered additional recognition if hospitals performed well on certain stroke quality measures. We sought to determine whether quality of care for all hospitals participating in GWTG-Stroke improved with this expanded recognition program. METHODS AND RESULTS: We examined hospital-level performance on 6 quality of care (process) measures and 1 defect-free composite quality measure for stroke following expansion of the existing performance measure recognition program...
January 21, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28110261/structure-and-chemistry-of-epitaxial-ceria-thin-films-on-yttria-stabilized-zirconia-substrates-studied-by-high-resolution-electron-microscopy
#7
Robert Sinclair, Sang Chul Lee, Yezhou Shi, William C Chueh
We have applied aberration-corrected transmission electron microscopy (TEM) imaging and electron energy loss spectroscopy (EELS) to study the structure and chemistry of epitaxial ceria thin films, grown by pulsed laser deposition onto (001) yttria-stabilized zirconia (YSZ) substrates. There are few observable defects apart from the expected mismatch interfacial dislocations and so the films would be expected to have good potential for applications. Under high electron beam dose rate (above about 6000 e(-)/Å(2)s) domains of an ordered structure appear and these are interpreted as being created by oxygen vacancy ordering...
January 6, 2017: Ultramicroscopy
https://www.readbyqxmd.com/read/28110178/tem-sample-preparation-by-femtosecond-laser-machining-and-ion-milling-for-high-rate-tem-straining-experiments
#8
Thomas Voisin, Michael D Grapes, Yong Zhang, Nicholas Lorenzo, Jonathan Ligda, Brian Schuster, Timothy P Weihs
To model mechanical properties of metals at high strain rates, it is important to visualize and understand their deformation at the nanoscale. Unlike post mortem Transmission Electron Microscopy (TEM), which allows one to analyze defects within samples before or after deformation, in situ TEM is a powerful tool that enables imaging and recording of deformation and the associated defect motion during mechanical loading. Unfortunately, all current in situ TEM mechanical testing techniques are limited to quasi-static strain rates...
December 5, 2016: Ultramicroscopy
https://www.readbyqxmd.com/read/28110173/tuning-physical-properties-and-bmp-2-release-rates-of-injectable-hydrogel-systems-for-an-optimal-bone-regeneration-effect
#9
Bo-Bae Seo, Jeong-Tae Koh, Soo-Chang Song
For a substance to be used as a drug delivery carrier and tissue inducible material for a target disease, its drug release rate and physical properties should be optimized to facilitate the healing process. We developed multi-tunable hydrogel systems with various physical properties and release behaviors to determine the optimal conditions for bone regeneration. Five injectable poly(phosphazene) hydrogels were developed with different types and amounts of anionic side-chains. The five polymer hydrogels showed considerably different in vitro and in vivo performances for sol-gel phase transition, dissolution/degradation, water uptake, and pore size...
January 12, 2017: Biomaterials
https://www.readbyqxmd.com/read/28110114/tropoelastin-coated-plla-plga-scaffolds-promote-vascular-network-formation
#10
Shira Landau, Ariel A Szklanny, Giselle C Yeo, Yulia Shandalov, Elena Kosobrodova, Anthony S Weiss, Shulamit Levenberg
The robust repair of large wounds and tissue defects relies on blood flow. This vascularization is the major challenge faced by tissue engineering on the path to forming thick, implantable tissue constructs. Without this vasculature, oxygen and nutrients cannot reach the cells located far from host blood vessels. To make viable constructs, tissue engineering takes advantage of the mechanical properties of synthetic materials, while combining them with ECM proteins to create a natural environment for the tissue-specific cells...
January 11, 2017: Biomaterials
https://www.readbyqxmd.com/read/28110067/poly-glycerol-sebacate-elastomer-supports-bone-regeneration-by-its-mechanical-properties-being-closer-to-osteoid-tissue-rather-than-to-mature-bone
#11
S H Zaky, K W Lee, J Gao, A Jensen, K Verdelis, Y Wang, A J Almarza, C Sfeir
: Mechanical load influences bone structure and mass. Arguing the importance of load-transduction, we investigated the mechanisms inducing bone formation using an elastomeric substrate. We characterized Poly (glycerol sebacate) (PGS) in-vitro for its mechanical properties, compatibility with osteoprogenitor cells regarding adhesion, proliferation, differentiation under compression versus static cultures and in-vivo for the regeneration of a rabbit ulna critical size defect. The load-transducing properties of PGS were compared in-vitro to a stiffer poly lactic-co- glycolic-acid (PLA/PGA) scaffold of similar porosity and interconnectivity...
January 18, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28109890/sunlight-damage-to-cellular-dna-focus-on-oxidatively-generated-lesions
#12
André Passaglia Schuch, Natália Cestari Moreno, Natielen Jacques Schuch, Carlos Frederico Martins Menck, Camila Carrião Machado Garcia
The routine and often unavoidable exposure to solar ultraviolet (UV) radiation makes it one of the most significant environmental DNA-damaging agents to which humans are exposed. Sunlight, specifically UVB and UVA, triggers various types of DNA damage. Although sunlight, mainly UVB, is necessary for the production of vitamin D, which is necessary for human health, DNA damage may have several deleterious consequences, such as cell death, mutagenesis, photoaging and cancer. UVA and UVB photons can be directly absorbed not only by DNA, which results in lesions, but also by the chromophores that are present in skin cells...
January 18, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28109742/development-of-a-new-uplc-esi-ms-ms-method-for-the-determination-of-biopterin-and-neopterin-in-dried-blood-spot
#13
Silvia Santagata, Emanuele Di Carlo, Carla Carducci, Vincenzo Leuzzi, Antonio Angeloni, Claudia Carducci
BACKGROUND: (6R)-5,6,7,8-tetrahydrobiopterin (BH4) deficiencies are rare inherited defects of synthesis or regeneration of BH4. Due to the resulting hyperphenylalaninemia (HPA), some of them are detectedby newborn screening and require the assessment of the pattern of neopterin (Neo) and biopterin (Bio) excretion in urine to be confirmed. Aim of presentstudy was to develop a method for the measurement of these diagnostic biomarkers in dried blood spot (DBS). METHODS: After DBS extraction, samples were filtered and injected into the UPLC column coupled with atandem mass spectrometer working in positive electrospray ionization...
January 18, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28109719/the-expanding-repertoire-of-g4-dna-structures
#14
Anna Varizhuk, Dmitry Ischenko, Vladimir Tsvetkov, Roman Novikov, Nikolay Kulemin, Dmitry Kaluzhny, Maria Vlasenok, Vladimir Naumov, Igor Smirnov, Galina Pozmogova
The definition of DNA and RNA G-quadruplexes (G4s) has recently been broadened to include structures with certain defects: bulges, G-vacancies or mismatches. Despite the striking progress in computational methods for assessing G4 folding propensity, predicting G4s with defects remains problematic, reflecting the enhanced sequential diversity of these motifs. "Imperfect" G4 motifs, i.e., those containing interrupted or truncated G-runs, are typically omitted from genomic analyses. We report here studies of G4s with defects and compare these structures with classical ("perfect") quadruplexes...
January 18, 2017: Biochimie
https://www.readbyqxmd.com/read/28109704/nicotine-promotes-vascular-endothelial-growth-factor-secretion-by-human-trophoblast-cells-under-hypoxic-conditions-and-improves-the-proliferation-and-tube-formation-capacity-of-human-umbilical-endothelial-cells
#15
Hongbo Zhao, Lanxiang Wu, Yahui Wang, Jiayi Zhou, Ruixia Li, Jiabing Zhou, Zehua Wang, Congjian Xu
Pre-eclampsia, characterized as defective uteroplacental vascularization, remains the major cause of maternal and fetal mortality and morbidity. Previous epidemiological studies demonstrated that cigarette smoking reduced the risk of pre-eclampsia. However, the molecular mechanism remains elusive. In the present study, it is demonstrated that a low dose of nicotine decreased soluble vascular endothelial growth factor receptor 1 (sFlt1) secretion in human trophoblast cells under hypoxic conditions. Nicotine was then observed to promote vascular endothelial growth factor (VEGF) secretion by reducing sFlt1 secretion and increasing VEGF mRNA transcription...
January 17, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28109651/late-onset-krabbe-disease-due-to-the-new-galc-p-ala543pro-mutation-with-intriguingly-high-residual-galc-activity-in%C3%A2-vitro
#16
Inge Krägeloh-Mann, Klaus Harzer, Kevin Rostásy, Stefanie Beck-Wödl, Antje Bornemann, Judith Böhringer, Andrea Bevot, Verena Beck, Gisela Merkel, Maria Pechan
BACKGROUND: Krabbe disease (KD) is an inherited leukodystrophy due to a defect in the GALC gene which encodes the lysosomal galactosylceramide β-galactosidase (GALC). About two thirds of patients show the early onset form of KD dominated by cerebral demyelination leading to death in early infancy. Late onset forms include a spectrum of late infantile, juvenile and adult clinical courses. The deficiency of GALC leads to a galactosylceramide lipidosis in which lysosomal storage phenomena are seen almost only at the ultrastructural level...
January 6, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28109396/safe-surgical-retrieval-of-embolized-atrial-septal-defect-closure-device
#17
Martin T Yates, David R Anderson
Surgical retrieval of atrial septal closure device is associated with significant morbidity. We present a technique for safer removal of such devices from the heart.
February 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28109373/staged-repair-of-an-aortic-pseudoaneurysm-secondary-to-delayed-methylmethacrylate-plate-migration
#18
Kathryn L Parker, Patricia Thistlethwaite, Ahmed S Suliman, Christopher Reid, Mayer Tenenhaus, Zaynoun El Khoury, Eugene M Golts
Methylmethacrylate is a prosthetic material commonly used for the reconstruction of large chest wall defects. We present the first reported case of delayed methylmethacrylate plate migration, which resulted in an aortic pseudoaneurysm with aortopulmonary fistula. Treatment management, including staged repair combining endovascular and open approaches, is also discussed.
February 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28109222/a-first-principles-comparative-study-of-lithium-sodium-and-magnesium-storage-in-pure-and-gallium-doped-germanium-competition-between-interstitial-and-substitutional-sites
#19
Fleur Legrain, Sergei Manzhos
Thermodynamics and kinetics of Li, Na, and Mg storage in Ge are studied ab initio. The most stable configurations can consist of tetrahedral, substitutional, or a combination of the two types of sites. In the dilute limit, Li and Na prefer interstitial, while Mg prefers substitutional sites. At higher concentrations of Li, Na, and Mg, there is a combination of interstitial and substitutional sites. This is an important finding, as most previous ab initio studies of alloying type electrode materials ignored substitutional sites...
January 21, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28109174/%C3%AE-%C3%AE-nac-cooperates-with-sam37-to-mediate-early-stages-of-mitochondrial-protein-import
#20
J Carlos Ponce-Rojas, M Clara Avendaño-Monsalve, A Roberto Yañez-Falcón, Fabiola Jaimes-Miranda, Erika Garay, Francisco Torres-Quiroz, Alexander DeLuna, Soledad Funes
The mitochondrial proteome is mostly composed of nuclear-encoded proteins. Such polypeptides are synthesized with signals that guide their intracellular transport to the surface of the organelle and later within the different mitochondrial sub-compartments until they reach their functional destination. It has been suggested that NAC - a cytosolic chaperone which recognizes nascent chains on translationally active ribosomes - has a role in the import of nuclear-encoded mitochondrial proteins. However, the molecular mechanisms that regulate the NAC-mediated co-translational import are still not clear...
January 21, 2017: FEBS Journal
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