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https://www.readbyqxmd.com/read/28102596/delineation-of-ehlers-danlos-syndrome-phenotype-due-to-the-c-934c-t-p-arg312cys-mutation-in-col1a1-report-on-a-three-generation-family-without-cardiovascular-events-and-literature-review
#1
Marina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara-Pinton, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28100779/intramembrane-proteolysis-of-astrotactins
#2
Hao Chang, Philip M Smallwood, John Williams, Jeremy Nathans
Astrotactins are vertebrate-specific membrane proteins implicated in neuron-glia interactions during central nervous system development and in hair follicle polarity during skin development. By studying epitope-tagged derivatives of mouse Astrotactin2 (Astn2) produced in transfected cells, we determined that the amino- and carboxy-termini reside in the extracellular space and are initially linked by two transmembrane segments and a single cytoplasmic domain. We further show that Astn2 undergoes proteolytic cleavage in the second transmembrane domain (TM2) and that a disulfide bond holds the resulting two fragments together...
January 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28099173/surgical-approach-for-ulcerated-locally-advanced-breast-cancer-a-single-center-experience-a-retrospective-study
#3
Rita Laforgia, Clelia Punzo, Annunziata Panebianco, Annalisa Volpi, Marina Minafra, Maria Grazia Sederino
AIM: The aim of our retrospective study is to analyze surgical possibilities for the extended LABC in those cases not suitable for a neoadjuvant chemotherapy step and to consider various reconstruction techniques. MATERIAL OF STUDY: Between 2009 and 2015 we enrolled 11 patients, admitted to the Emergency Department, presenting ulcerated LABC that needed palliative surgical demolitive procedures because of bleeding and anemia and in which was necessary to use natural tissues transposition or synthetic substitutes for the reconstruction of the skin flaps...
January 12, 2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28094220/molecular-docking-discovery-synthesis-and-pharmacological-properties-of-new-6-substituted-2-3-phenoxyphenyl-4-phenyl-quinoline-derivatives-an-approach-to-developing-potent-dna-gyrase-inhibitors-antibacterial-agents
#4
Manikandan Alagumuthu, Sivakumar Arumugam
Synthesis and molecular validation of 6-substituted-2-(3-phenoxyphenyl)-4-phenylquinoline derivatives (4a-h) as antibacterial/DNA gyrase inhibitors reported. Primarily, 6-substituted-2-(3-phenoxyphenyl)-4-phenylquinoline derivatives were docked into the active sites of DNA gyrase A&B, to ensure the binding mode of the compounds, and the results were superior on DNA gyrase A over DNA gyrase B. Based on this, S. aureus DNA gyrase A assay was proposed and executed. Most prominent DNA gyrase inhibition showed by 6-fluoro-2-(3-phenoxyphenyl)-4-phenylquinoline (4c), IC50 0...
January 6, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28090513/an-update-and-review-of-cell-based-wound-dressings-and-their-integration-into-clinical-practice
#5
REVIEW
Austin Pourmoussa, Daniel J Gardner, Maxwell B Johnson, Alex K Wong
Chronic wounds affect over 4 million individuals and pose a significant burden to the US healthcare system. Diabetes, venous stasis, radiation or paralysis are common risk factors for chronic wounds. Unfortunately, the current standard of care (SOC) has a high relapse rate and these wounds continue to adversely affect patients' quality of life. Fortunately, advances in tissue engineering have allowed for the development of cell-based wound dressings that promote wound healing by improving cell migration and differentiation...
December 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28087229/disease-associated-mutations-identify-a-novel-region-in-human-sting-necessary-for-the-control-of-type-i-interferon-signaling
#6
Isabelle Melki, Yoann Rose, Carolina Uggenti, Lien Van Eyck, Marie-Louise Frémond, Naoki Kitabayashi, Gillian I Rice, Emma M Jenkinson, Anaïs Boulai, Nadia Jeremiah, Marco Gattorno, Sefano Volpi, Olivero Sacco, Suzanne W J Terheggen-Lagro, Harm A W M Tiddens, Isabelle Meyts, Marie-Anne Morren, Petra De Haes, Carine Wouters, Eric Legius, Anniek Corveleyn, Frederic Rieux-Laucat, Christine Bodemer, Isabelle Callebaut, Mathieu P Rodero, Yanick J Crow
BACKGROUND: Gain-of-function mutations in transmembrane protein 173 (TMEM173) encoding stimulator of interferon genes (STING) underlie a recently described type I interferonopathy called STING-associated vasculopathy with onset in infancy (SAVI). OBJECTIVES: We sought to define the molecular and cellular pathology relating to 3 individuals variably exhibiting the core features of the SAVI phenotype including systemic inflammation, destructive skin lesions, and interstitial lung disease...
January 3, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28079548/history-and-advancement-of-burn-treatments
#7
Hai-Fei Liu, Feng Zhang, William C Lineaweaver
Advances in burn care have accelerated within the last 50 years. The principal modalities of and approaches to burn treatment include dressings, antimicrobials, fluid resuscitation, burn wound excision, skin grafting, and use of skin substitutes. This review presents a historical outline of these approaches, their current status, and prospects for the future of burn care.
February 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28062236/enhanced-wound-healing-activity-of-desert-locust-schistocerca-gregaria-vs-shrimp-penaeus-monodon-chitosan-based-scaffolds
#8
Narguess H Marei, W El-Mazny, Aida El-Shaer, Kareem Dorri Zaki, Zahra S Hussein, Emtithal M Abd-El-Samie
Chitosan (CS) has received great attention in tissue engineering, especially in wound healing acceleration. In this study, chitin was isolated from desert locust (Schistocerca gregaria) and shrimp (Penaeus monodon) then deacetylated to chitosan. Then, chitosan was characterized by degree of deacetylation (DD), molecular weight (M.Wt), swelling index (SI), Fourier transform infrared (FTIR) and X ray diffraction (XRD). The chitosan was then casted into 2D scaffolds and was pictured using scanning electron microscope (SEM)...
January 3, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28060331/biomechanical-characterization-of-human-soft-tissues-using-indentation-and-tensile-testing
#9
Michelle Griffin, Yaami Premakumar, Alexander Seifalian, Peter Edward Butler, Matthew Szarko
Regenerative medicine aims to engineer materials to replace or restore damaged or diseased organs. The mechanical properties of such materials should mimic the human tissues they are aiming to replace; to provide the required anatomical shape, the materials must be able to sustain the mechanical forces they will experience when implanted at the defect site. Although the mechanical properties of tissue-engineered scaffolds are of great importance, many human tissues that undergo restoration with engineered materials have not been fully biomechanically characterized...
December 13, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28054203/molecular-explorations-of-substituted-2-4-phenylquinolin-2-yl-phenols-as-phosphoinositide-3-kinase-inhibitors-and-anticancer-agents
#10
Manikandan Alagumuthu, Sivakumar Arumugam
PURPOSE: Substituted 2-(4-phenylquinolin-2-yl) phenols (PQPDs) emerged as the inhibitors of phosphoinositide 3-kinase (PI3K) and anticancer agents. METHOD: PI3K inhibition was assessed by competitive ELISA. Anticancer activity was evaluated against breast cancer (MCF-7), skin cancer (G-361), and colon cancer (HCT 116) cell lines. RESULTS: In PI3 Kinase assay, PQPDs 4c, 4d, and 4k were inactive with IC50 >5 µM. IC50 for 4a, 4b, 4f-h, and 4j was ≥0...
January 4, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28053158/a-bioengineered-living-cell-construct-activates-an-acute-wound-healing-response-in-venous-leg-ulcers
#11
Rivka C Stone, Olivera Stojadinovic, Ashley M Rosa, Horacio A Ramirez, Evangelos Badiavas, Miroslav Blumenberg, Marjana Tomic-Canic
Chronic nonhealing venous leg ulcers (VLUs) are widespread and debilitating, with high morbidity and associated costs; about $15 billion is spent annually on the care of VLUs in the United States. Despite this, there is a paucity of treatments for VLUs because of the lack of pathophysiologic insight into ulcer development as well as the lack of knowledge regarding biologic actions of existing VLU-targeted therapies. The bioengineered bilayered living cellular construct (BLCC) skin substitute is a U.S. Food and Drug Administration-approved biologic treatment for healing VLUs...
January 4, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28052368/synthesis-and-activity-of-the-salicylic-acid-ester-of-bakuchiol-in-psoriasis-surrogate-keratinocytes-and-skin-substitutes
#12
S Ma, K Gobis, W R Swindell, R Chaudhuri, R Bojanowski, K Bojanowski
BACKGROUND: Topical retinoids are effective in retarding skin ageing and restoring homeostasis in skin conditions such as psoriasis. However their adverse effects (AEs), which include irritation (retinoid dermatitis), photosensitivity and teratogenicity, limit their use and patient compliance. Development of retinoid analogues with minimal AEs would allow a broader and more compliant use. AIM: To synthesise a novel molecule, bakuchiol salicylate (bakusylan), with a modulatory gene expression profile similar to retinoids, using as reference three prescription retinoids: tretinoin, tazarotene and adapalene...
January 4, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28042321/pre-vascularization-enhances-therapeutic-effects-of-human-mesenchymal-stem-cell-sheets-in-full-thickness-skin-wound-repair
#13
Lei Chen, Qi Xing, Qiyi Zhai, Mitchell Tahtinen, Fei Zhou, Lili Chen, Yingbin Xu, Shaohai Qi, Feng Zhao
Split thickness skin graft (STSG) implantation is one of the standard therapies for full thickness wound repair when full thickness autologous skin grafts (FTG) or skin flap transplants are inapplicable. Combined transplantation of STSG with dermal substitute could enhance its therapeutic effects but the results remain unsatisfactory due to insufficient blood supply at early stages, which causes graft necrosis and fibrosis. Human mesenchymal stem cell (hMSC) sheets are capable of accelerating the wound healing process...
2017: Theranostics
https://www.readbyqxmd.com/read/28041746/evaluation-of-cultured-human-dermal-and-dermo-epidermal-substitutes-focusing-on-extracellular-matrix-components-comparison-of-protein-and-rna-analysis
#14
Corien Oostendorp, Sarah Meyer, Monia Sobrio, Joyce van Arendonk, Ernst Reichmann, Willeke F Daamen, Toin H van Kuppevelt
Treatment of full-thickness skin defects with split-thickness skin grafts is generally associated with contraction and scar formation and cellular skin substitutes have been developed to improve skin regeneration. The evaluation of cultured skin substitutes is generally based on qualitative parameters focusing on histology. In this study we focused on quantitative evaluation to provide a template for comparison of human bio-engineered skin substitutes between clinical and/or research centers, and to supplement histological data...
December 29, 2016: Burns: Journal of the International Society for Burn Injuries
https://www.readbyqxmd.com/read/28040611/factors-affecting-the-mechanical-behavior-of-collagen-hydrogels-for-skin-tissue-engineering
#15
Marco Pensalfini, Alexander E Ehret, Silvia Stüdeli, Daniela Marino, Andres Kaech, Ernst Reichmann, Edoardo Mazza
The effect of the production factors yielding a functional dermal substitute was investigated by means of monotonic and cyclic uniaxial tensile tests, as well as electron microscopy visualizations. The role of (i) plastic compression, (ii) product incubation, and (iii) cell permanence in the collagenous matrix in order to achieve a skin-like behavior were characterized in terms of material and structural stiffness, in-plane kinematics, and cyclic response, as well as pore size and network density. The plastic compression resulted in a denser and stiffer material, while no corresponding change was observed in the behavior of the entire structure...
December 9, 2016: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28040091/reconstruction-of-patellar-tendon-following-implantation-of-proximal-tibia-megaprosthesis-for-the-treatment-of-post-traumatic-septic-bone-defects
#16
Giorgio M Calori, Emilio Luigi Mazza, Luca Vaienti, Simone Mazzola, Alessandra Colombo, Luca Gala, Massimiliano Colombo
INTRODUCTION: Latest advances made in joint replacement implants allows reconstruction of entire limbs. These special prostheses or megaprostheses were originally designed for the treatment of severe oncological bone loss. Nowadays, however, the indications and applications of these devices are expanding to other orthopaedic and trauma clinical conditions. Since 2008 we have implanted 152 megaprostheses in non-oncological conditions: 87 were implanted for post-traumatic failures aseptic/septic (represented by complex non-unions and critical size bone defects); 26 total femur, 52 distal femur and 9 proximal tibia...
December 2016: Injury
https://www.readbyqxmd.com/read/28033194/neonatal-soft-tissue-reconstruction-using-a-bioengineered-skin-substitute
#17
Scott D Hirsch, Jeremy M Powers, Jennifer L Rhodes
Total parenteral nutrition (TPN) can be a lifesaving intervention for premature neonates and it is often delivered through peripheral access in this unique population. However, extravasation and tissue damage can result. Current literature lacks strong evidence regarding the treatment and reconstruction of such injuries in this age group. The authors present a patient with a 30-week gestational age premature newborn whom suffered an extravasation injury with peripherally administered TPN leading to full thickness skin and soft tissue necrosis of the dorsum of the right hand...
December 28, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28027270/a-novel-approach-to-keloid-reconstruction-with-bilaminar-dermal-substitute-and-epidermal-skin-grafting
#18
Christian Pascone, Juri Tassinari, Tommaso Agostini, Davide Lazzeri, Francesco Figliuolo, Andrea Sisti
No abstract text is available yet for this article.
January 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28027250/important-developments-in-burn-care
#19
Kevin J Zuo, Abelardo Medina, Edward E Tredget
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Explain the epidemiology of severe burn injury in the context of socioeconomic status, gender, age, and burn cause. 2. Describe challenges with burn depth evaluation and novel methods of adjunctive assessment. 3. Summarize the survival and functional outcomes of severe burn injury. 4. State strategies of fluid resuscitation, endpoints to guide fluid titration, and sequelae of overresuscitation. 5. Recognize preventative measures of sepsis...
January 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28027064/novel-pathogenic-variant-in-the-hras-gene-with-lethal-outcome-and-a-broad-phenotypic-spectrum-among-polish-patients-with-costello-syndrome
#20
Magdalena Pelc, Elżbieta Ciara, Aleksandra Jezela-Stanek, Monika Kugaudo, Agata Cieślikowska, Dorota Jurkiewicz, Magdalena Janeczko, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Agata Skórka
Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia. CS is associated with germline mutations in the proto-oncogene HRAS, a small GTPase from the Ras family. In this study, a molecular and clinical analysis was carried out in eight Polish patients with the Costello phenotype. A molecular test showed two known heterozygous mutations in the first coding exon of the gene in seven patients: p...
December 23, 2016: Clinical Dysmorphology
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