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https://www.readbyqxmd.com/read/28544784/presynaptic-congenital-myasthenic-syndrome-with-a-homozygous-sequence-variant-in-lama5-combines-myopia-facial-tics-and-failure-of-neuromuscular-transmission
#1
Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, Jessica X Chong, Michael J Bamshad, Deborah A Nickerson, Marian Lara, Fiona Ng, Victoria L Lo, Peter Pytel, Craig M McDonald
Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544621/a-cell-adhesive-peptide-from-tropoelastin-promotes-sequential-cell-attachment-and-spreading-via-distinct-receptors
#2
Pearl Lee, Giselle C Yeo, Anthony S Weiss
Tropoelastin is the dominant monomer that assembles to form elastin, which confers elasticity to vertebrate elastic tissues including skin, arteries and lungs. Tropoelastin interacts with cells through cell surface receptors including integrins and glycosaminoglycans (GAGs). As the region 17-18 is recognized as a key region in cell attachment and spreading, we utilized C-terminal truncated tropoelastin constructs containing dissected sections of domain 18. We mapped a cell interactive sequence of tropoelastin to domain 17 and the first 6 amino acids (aa) of domain 18...
May 24, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28532022/a-novel-grapheme-oxide-modified-collagen-chitosan-bio-film-for-controlled-growth-factor-release-in-wound-healing-applications
#3
Ting Liu, Weihua Dan, Nianhua Dan, Xinhua Liu, Xuexu Liu, Xu Peng
Collagen-chitosan composite film modified with grapheme oxide (GO) and 1-(3-Dimethylaminopropyl)-3-ethylcarbodiimide hydrochloride (EDC), termed CC-G-E film, was loaded with basic fibroblast growth factor (bFGF) as the development of an efficacious wound healing device. In this study we report a novel drug delivery system that prevents the initial burst release and loss of bioactivity of drugs in vitro and in vivo applications. The results showed that CC-G-E film possessed improved thermal stability and a higher rate of crosslinking with increased mechanical properties when the dosage of GO was between 0...
August 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/28527732/descriptive-study-of-the-frequency-of-medical-adhesive-related-skin-injuries-in-a-vascular-clinic
#4
Catherine R Ratliff
A medical adhesive can be defined as a product used to secure a device (ie, tape, dressing, catheter, electrode, and ostomy pouch) to the skin. Skin injury related to medical adhesive usage occurs across all care settings with medical adhesive-related skin injuries (MARSIs) playing a significant role with patient safety. The purpose of this descriptive prospective study was to assess all adult patients with wounds seen in the vascular clinic for MARSI by the CWOCN NP over a 3-month time period. One hundred twenty patients comprising a total of 207 visits were seen by the CWOCN NP over the 3-month time frame...
June 2017: Journal of Vascular Nursing: Official Publication of the Society for Peripheral Vascular Nursing
https://www.readbyqxmd.com/read/28527695/cytoprotection-proliferation-and-epidermal-differentiation-of-adipose-tissue-derived-stem-cells-on-emu-oil-based-electrospun-nanofibrous-mat
#5
Younes Pilehvar-Soltanahmadi, Mohammad Nouri, Mikaël M Martino, Amir Fattahi, Effat Alizadeh, Masoud Darabi, Mohammad Rahmati-Yamchi, Nosratollah Zarghami
Electrospun nanofibrous scaffolds containing natural substances with wound healing properties such as Emu oil (EO) may have a great potential for increasing the efficiency of stem cell-based skin bioengineering. For this purpose, EO blended PCL/PEG electrospun nanofibrous mats were successfully fabricated and characterized using FE-SEM, FTIR and Universal Testing Machine. The efficiency of the scaffolds in supporting the adherence, cytoprotection, proliferation and differentiation of adipose tissue-derived stem cells (ADSCs) to keratinocyte was evaluated...
May 17, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28524044/expression-of-keratin-1-keratin-10-desmoglein-1-and-desmocollin-1-in-the-epidermis-possible-downregulation-by-interleukin-4-and-interleukin-13-in-atopic-dermatitis
#6
Ami Totsuka, Miyuki Omori-Miyake, Makoto Kawashima, Junji Yagi, Yuichiro Tsunemi
In the pathogenesis of atopic dermatitis (AD), skin barrier dysfunction and T-helper (Th) type 2 immune reactions play important roles. Alterations in the stratum spinosum of AD have not been studied in much detail. In this study, we investigated the changes of structural proteins and adhesion molecules residing in the stratum spinosum of AD lesional skin, and whether Th2 cytokines including interleukin (IL)-4 and IL-13 alter the expression of these proteins. Skin samples were collected from patients with AD and from healthy controls...
May 19, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28523760/bioinspired-composite-microfibers-for-skin-adhesion-and-signal-amplification-of-wearable-sensors
#7
Dirk-M Drotlef, Morteza Amjadi, Muhammad Yunusa, Metin Sitti
A facile approach is proposed for superior conformation and adhesion of wearable sensors to dry and wet skin. Bioinspired skin-adhesive films are composed of elastomeric microfibers decorated with conformal and mushroom-shaped vinylsiloxane tips. Strong skin adhesion is achieved by crosslinking the viscous vinylsiloxane tips directly on the skin surface. Furthermore, composite microfibrillar adhesive films possess a high adhesion strength of 18 kPa due to the excellent shape adaptation of the vinylsiloxane tips to the multiscale roughness of the skin...
May 19, 2017: Advanced Materials
https://www.readbyqxmd.com/read/28509522/construction-of-a-three-dimensional-in-vitro-skin-model-on-polycaprolactone-fibers
#8
Qi Liu, Ru-Zhi Zhang, Bin Xu
BACKGROUND: To observe the morphological characteristics and the biological properties of human epidermal cells when cultured at an air-liquid interface in polycaprolactone (PCL) fibers as a three-dimensional scaffold for tissue engineering. METHODS: In this study, the melanocytes and keratinocytes were obtained from human scalp skin, seeded onto a PCL film, and cocultured for 2 weeks to construct a three-dimensional (3D) skin model. The cells were then characterized by hematoxylin and eosin (H&E) staining, by immunohistochemical staining with antibodies to cytokeratin 15 (CK15), Ki-67, CD34, CD200 and HMB45 and by transmission electron microscopy...
May 16, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28506203/optimization-of-microemulsion-based-transdermal-gel-of-triamcinolone
#9
Bhagyashree Chaudhari, Swati Jagdale
BACKGROUND: Triamcinolone is a long acting corticosteroid used in the treatment of arthritis, eczema, psoriasis and similar conditions which causes inflammation. Triamcinolone has half-life of 88 minutes. Prolonged oral use is associated with gastrointestinal adverse effects as peptic ulcer, abdominal distention and ulcerative esophagitis. Microemulgel offers advantage of better stability, better loading capacity and controlled release especially for drug with short half life. OBJECTIVE: Objective of the present study was to optimize microemulgel based transdermal delivery of triamcinolone...
April 25, 2017: Recent Patents on Anti-infective Drug Discovery
https://www.readbyqxmd.com/read/28501563/kindlin-1-protects-cells-from-oxidative-damage-through-activation-of-erk-signalling
#10
Hila Emmert, Hitesh Patel, Valerie G Brunton
Kindlin-1 is a FERM domain containing adaptor protein that is found predominantly at cell-extracellular matrix adhesions where it binds to β-integrin subunits and is required for integrin activation. Loss of function mutations in the FERMT1 gene which encodes Kindlin-1 leads to the development of Kindler Syndrome (KS) an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, and predisposition to aggressive squamous cell carcinoma (SCC). Here we show that loss of Kindlin-1 sensitizes both SCC cells and keratinocytes to oxidative stress: Kindlin-1 deficient cells have higher levels of reactive oxygen species, decreased viability and increased DNA damage after treatment with either hydrogen peroxide (H2O2) or irradiation with UVA...
May 10, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28500810/environmental-and-behavioral-drivers-of-buruli-ulcer-disease-in-selected-communities-along-the-densu-river-basin-of-ghana-a-case-control-study
#11
Samuel Yaw Aboagye, Prince Asare, Isaac Darko Otchere, Eric Koka, George Ekow Mensah, Dzidzo Yirenya-Tawiah, Dorothy Yeboah-Manu
AbstractThe exact route of transmission of Mycobacterium ulcerans (MU) (causative agent of Buruli ulcer [BU]), risk factors, and reservoir hosts are not clearly known, although it has been identified as an environmental pathogen. This study assessed potential environmental and behavioral risk factors that influence BU infections. We conducted a case-control study where cases were matched by their demographic characteristics and place of residence. A structured questionnaire was administered to solicit information on the environmental and behavioral factors of participants that may expose them to infection...
May 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28500339/a-role-for-core-planar-polarity-proteins-in-cell-contact-mediated-orientation-of-planar-cell-division-across-the-mammalian-embryonic-skin
#12
Fazal Oozeer, Laura L Yates, Charlotte Dean, Caroline J Formstone
The question of how cell division orientation is determined is fundamentally important for understanding tissue and organ shape in both healthy or disease conditions. Here we provide evidence for cell contact-dependent orientation of planar cell division in the mammalian embryonic skin. We propose a model where the core planar polarity proteins Celsr1 and Frizzled-6 (Fz6) communicate the long axis orientation of interphase basal cells to neighbouring basal mitoses so that they align their horizontal division plane along the same axis...
May 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28498512/recurrent-atp2a2-p-pro602leu-mutation-differentiates-acrokeratosis-verruciformis-of-hopf-from-the-allelic-condition-darier-disease
#13
Anne Ronan, Angela Ingrey, Natalia Murray, Paul Chee
Darier disease and Acrokeratosis Verruciformis of Hopf (AKV) are rare disorders of keratinization with autosomal dominant inheritance and very distinct clinical pictures. Both have been shown to be caused by mutations in ATP2A2 (ATPase, Ca(++) transporting, cardiac muscle, slow-twitch) a gene encoding one of the SERCA (sarcoplasmic/endoplasmic reticulum calcium ATPase2) intracellular pumps with a crucial role in cell-to-cell adhesion in both skin and heart. While hundreds of different missense and nonsense mutations cause Darier disease, only one missense mutation, p...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28496325/multifunctional-and-biomimetic-fish-collagen-bioactive-glass-nanofibers-fabrication-antibacterial-activity-and-inducing-skin-regeneration-in-vitro-and-in-vivo
#14
Tian Zhou, Baiyan Sui, Xiumei Mo, Jiao Sun
The development of skin wound dressings with excellent properties has always been an important challenge in the field of biomedicine. In this study, biomimetic electrospun fish collagen/bioactive glass (Col/BG) nanofibers were prepared. Their structure, tensile strength, antibacterial activity and biological effects on human keratinocytes, human dermal fibroblasts and human vascular endothelial cells were investigated. Furthermore, the Sprague Dawley rat skin defect model was used to validate their effect on wound healing...
2017: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/28494442/efficacy-of-hyaluronic-acid-carboxymethyl-cellulose-based-bioresorbable-membranes-in-reducing-perihepatic-adhesion-formation-a-prospective-cohort-study
#15
Atsushi Shimizu, Kiyoshi Hasegawa, Koichi Masuda, Kiyohiko Omichi, Akinori Miyata, Norihiro Kokudo
BACKGROUND: Perihepatic adhesions induced by hepatectomy make the subsequent repeat hepatectomy technically demanding. The aim of this study was to verify the effect of hyaluronic acid/carboxymethyl cellulose-based bioresorbable membrane (HA membrane) in preventing posthepatectomy adhesion formation by focusing on the ease of the adhesiolysis in subsequent hepatectomy for recurrent tumors. METHODS: A total of 201 patients who underwent hepatectomy using HA membrane were prospectively followed-up for 3 years...
May 12, 2017: Digestive Surgery
https://www.readbyqxmd.com/read/28492232/pemphigus
#16
REVIEW
Michael Kasperkiewicz, Christoph T Ellebrecht, Hayato Takahashi, Jun Yamagami, Detlef Zillikens, Aimee S Payne, Masayuki Amagai
Pemphigus is a group of IgG-mediated autoimmune diseases of stratified squamous epithelia, such as the skin and oral mucosa, in which acantholysis (the loss of cell adhesion) causes blisters and erosions. Pemphigus has three major subtypes: pemphigus vulgaris, pemphigus foliaceus and paraneoplastic pemphigus. IgG autoantibodies are characteristically raised against desmoglein 1 and desmoglein 3, which are cell-cell adhesion molecules found in desmosomes. The sites of blister formation can be physiologically explained by the anti-desmoglein autoantibody profile and tissue-specific expression pattern of desmoglein isoforms...
May 11, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28492025/validation-studies-of-outcome-measures-in-pemphigus
#17
REVIEW
Sarah Hanna, Minhee Kim, Dedee F Murrell
Pemphigus is a group of rare and potentially fatal autoimmune blistering diseases that are associated with auto-antibodies that target intercellular adhesion molecules. Incidence of pemphigus varies among populations, with the lowest incidence in Switzerland and Finland at 0.6-0.76 per million per year and the highest in Jewish communities at 16.1-32 per million per year. Pemphigus is associated with devastating morbidity and despite advancements in our understanding of the disease and a widening array of therapeutic options, no cure exists...
December 2016: International Journal of Women's Dermatology
https://www.readbyqxmd.com/read/28487195/evaluation-of-nanofibrous-scaffolds-obtained-from-blends-of-chitosan-gelatin-and-polycaprolactone-for-skin-tissue-engineering
#18
Susana Gomes, Gabriela Rodrigues, Gabriel Martins, Célia Henriques, Jorge Carvalho Silva
Polymer blending is a strategy commonly used to obtain hybrid materials possessing properties better than those of the individual constituents regarding their use in scaffolds for Tissue Engineering. In the present work, the scaffolds produced by electrospinning solutions of polymeric blends obtained using a polyester (polycaprolactone, PCL), a polysaccharide (chitosan, CS) and a protein (gelatin extracted from cold water fish skin, GEL), were investigated. Solutions conductivity, shear viscosity and surface tension were determined...
May 6, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28487031/hmec-1-adopt-the-mixed-amoeboid-mesenchymal-migration-type-during-endmt
#19
Jakub Kryczka, Patrycja Przygodzka, Helena Bogusz, Joanna Boncela
The contribution of endothelial cells to scar and fibrotic tissue formation is undisputedly connected to their ability to undergo the endothelial-to-mesenchymal transition (EndMT) towards fibroblast phenotype-resembling cells. The migration model of fibroblasts and fibroblast-resembling cells is still not fully understood. It may be either a Rho/ROCK-independent, an integrin- and MMP-correlated ECM degradation-dependent, a mesenchymal model or Rho/ROCK-dependent, integrin adhesion- and MMP activity-independent, an amoeboid model...
April 24, 2017: European Journal of Cell Biology
https://www.readbyqxmd.com/read/28483692/biocompatible-nanostructured-solid-adhesives-for-biological-soft-tissues
#20
Masahiro Okada, Akira Nakai, Emilio Satoshi Hara, Tetsushi Taguchi, Takayoshi Nakano, Takuya Matsumoto
Over the past few years, the development of novel adhesives for biological soft tissue adhesion has gained significant interest. Such adhesives should be non-toxic and biocompatible. In this study, we synthesized a novel solid adhesive using nanostructured hydroxyapatite (HAp) and evaluated its physical adhesion properties through in vitro testing with synthetic hydrogels and mice soft tissues. The results revealed that the HAp-nanoparticle dispersions and HAp-nanoparticle-assembled nanoporous plates showed efficient adhesion to the hydrogels...
May 5, 2017: Acta Biomaterialia
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