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Epidermolysis bullosa

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https://www.readbyqxmd.com/read/29233035/from-the-wound-to-the-bench-exoproteome-interplay-between-wound-colonizing-staphylococcus-aureus-strains-and-co-existing-bacteria
#1
Andrea N García-Pérez, Anne de Jong, Sabryna Junker, Dörte Becher, Monika A Chlebowicz, José C Duipmans, Marcel F Jonkman, Jan Maarten van Dijl
Wound-colonizing microorganisms can form complex and dynamic polymicrobial communities where pathogens and commensals may co-exist, cooperate or compete with each other. The present study was aimed at identifying possible interactions between different bacteria isolated from the same chronic wound of a patient with the genetic blistering disease epidermolysis bullosa (EB). Specifically, this involved two different isolates of the human pathogen Staphylococcus aureus, and isolates of Bacillus thuringiensis and Klebsiella oxytoca...
December 13, 2017: Virulence
https://www.readbyqxmd.com/read/29229433/establishment-of-integration-free-induced-pluripotent-stem-cells-from-human-recessive-dystrophic-epidermolysis-bullosa-keratinocytes
#2
Wakana Matsumura, Yasuyuki Fujita, Chihiro Nakayama, Satoru Shinkuma, Shotaro Suzuki, Toshifumi Nomura, Riichiro Abe, Hiroshi Shimizu
BACKGROUND: Induced pluripotent stem cell (iPSC) technology enables patient-specific pluripotent stem cells to be derived from adult somatic cells without the use of an embryonic cell source. To date, recessive dystrophic epidermolysis bullosa (RDEB)-specific iPSCs have been generated from patients using integrating retroviral vectors. However, vector integration into the host genome can endanger the biosafety and differentiation propensities of iPSCs. Although various integration-free reprogramming systems have been reported, their utility in reprogramming somatic cells from patients remains largely undetermined...
December 1, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29209377/pain-in-patients-with-dystrophic-epidermolysis-bullosa-association-with-anxiety-and-depression
#3
Giulio Fortuna, Massimo Aria, Rodrigo Cepeda-Valdes, Maria Guadalupe Moreno Trevino, Julio Cesar Salas-Alanís
Objective: We investigate the presence and the quality of pain in patients with dystrophic epidermolysis bullosa (DEB), and its correlation with the level of anxiety and depression. Methods: We collected data from 27 DEB patients and 26 healthy individuals. DEB patients and controls completed 1 scale for the quality of pain, and 1 scale for anxiety and depression. Pain was assessed with the short form of the McGill Pain Questionnaire, whereas anxiety and depression were assessed with the Hamilton rating scale for anxiety and depression...
November 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/29209066/interaction-of-complement-defence-collagens-c1q-and-mannose-binding-lectin-with-bmp-1-tolloid-like-proteinases
#4
Monique Lacroix, Agnès Tessier, Chantal Dumestre-Pérard, Sandrine Vadon-Le Goff, Evelyne Gout, Leena Bruckner-Tuderman, Dimitra Kiritsi, Alexander Nyström, Sylvie Ricard-Blum, Catherine Moali, David J S Hulmes, Nicole M Thielens
The defence collagens C1q and mannose-binding lectin (MBL) are immune recognition proteins that associate with the serine proteinases C1r/C1s and MBL-associated serine proteases (MASPs) to trigger activation of complement, a major innate immune system. Bone morphogenetic protein-1 (BMP-1)/tolloid-like proteinases (BTPs) are metalloproteinases with major roles in extracellular matrix assembly and growth factor signalling. Despite their different functions, C1r/C1s/MASPs and BTPs share structural similarities, including a specific CUB-EGF-CUB domain arrangement found only in these enzymes that mediates interactions with collagen-like proteins, suggesting a possible functional relationship...
December 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29208193/-epidermolysis-bullosa
#5
Camilla Firing, Anette Bygum
Epidermolysis bullosa (EB) is a rare genodermatosis. A new classification system is presented, distinguishing the subtypes of EB, and this system is based on the phenotype, mode of inheritance, ultrastructure, immunofluorescence findings, and specific mutation(s) present. EB is inherited in an autosomal dominant or -recessive fashion. Clinical manifestations vary in severity and character according to subtype. The severity ranges from mild localized to life-threatening. Available treatment is mainly symptomatic with therapeutic treatment in an experimental stage...
November 20, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29205468/case-of-epidermolysis-bullosa-acquisita-with-concomitant-anti-laminin-332-antibodies
#6
Emi Nishida, Eiichi Nishio, Hiroko Murashima, Norito Ishii, Takashi Hashimoto, Akimichi Morita
Subepidermal autoimmune blistering disease including bullous pemphigoid, pemphigoid gestationis, mucous membrane pemphigoid, anti-laminin-γ1 pemphigoid, linear immunoglobulin A bullous disease and epidermolysis bullosa acquisita (EBA), are all characterized by direct immunofluorescence microscopy or immunoglobulin deposition on the basement membrane zone. Among them, EBA is a rare acquired subepidermal autoimmune blistering disease of the skin and mucous membranes reactive with type VII collagen, a major component of the epidermal basement membrane zone...
December 4, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/29203361/extracellular-vesicles-as-biomarkers-for-the-detection-of-a-tumor-marker-gene-in-epidermolysis-bullosa-associated-squamous-cell-carcinoma
#7
Yuchen Sun, Katharina Woess, Melanie Kienzl, Victoria M Leb-Reichl, Andrea Feinle, Monika Wimmer, Roland Zauner, Verena Wally, Ursula Luetz-Meindl, Jemima E Mellerio, Ignacia Fuentes, Andrew P South, Johann W Bauer, Julia Reichelt, Tomomi Furihata, Christina Guttmann-Gruber, Josefina Piñón Hofbauer
No abstract text is available yet for this article.
December 1, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29203359/bone-marrow-derived-stem-cells-migrate-into-intra-epidermal-skin-defects-of-a-desmoglein-3-knockout-mouse-model-but-preserve-their-mesodermal-differentiation
#8
Christian Hünefeld, Markus Mezger, Eva Müller-Hermelink, Martin Schaller, Ingo Müller, Masayuki Amagai, Rupert Handgretinger, Martin Röcken
Inherited forms of Epidermolysis bullosa (EB) are blistering diseases of the skin and mucosa resulting from various gene mutations. Transplantation of bone marrow (BM)-derived stem cells might be a promising systemic treatment for severe dystrophic or junctional EB, but many key questions remain unresolved. Two open questions of clinical interest are whether systemically transplanted BM-derived stem cells of mesodermal origin might be able to transdifferentiate into keratinocytes with an ectodermal phenotype and whether these cells are also capable of repairing a specific intra-epidermal gene defect...
December 1, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29203033/recessive-dystrophic-epidermolysis-bullosa-and-pregnancy
#9
F Boria, R Maseda, M Martín-Cameán, M De la Calle, R de Lucas
Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen, which leads to marked fragility of the skin and mucous membranes and subsequent blister formation, whether spontaneously or following minimal injury. There have been very few reports of this disease in pregnant women. We present 2 cases of pregnant women with recessive dystrophic epidermolysis bullosa managed in our High-Risk Pregnancy Unit at Hospital Universitario La Paz, Madrid, Spain...
December 1, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29200755/current-and-future-perspectives-of-stem-cell-therapy-in-dermatology
#10
REVIEW
Christine M Prodinger, Julia Reichelt, Johann W Bauer, Martin Laimer
Stem cells are undifferentiated cells capable of generating, sustaining, and replacing terminally differentiated cells and tissues. They can be isolated from embryonic as well as almost all adult tissues including skin, but are also generated through genetic reprogramming of differentiated cells. Preclinical and clinical research has recently tremendously improved stem cell therapy, being a promising treatment option for various diseases in which current medical therapies fail to cure, prevent progression or relieve symptoms...
December 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/29198538/a-nonlethal-case-of-junctional-epidermolysis-bullosa-and-congenital-pyloric-atresia-compound-heterozygosity-in-a-patient-with-a-novel-integrin-beta-4-gene-mutation
#11
Lauren Ko, Cornelia L Griggs, Konstantinos S Mylonas, Peter T Masiakos, Daniela Kroshinsky
We report a case of nonfatal junctional epidermolysis bullosa and pyloric atresia in a newborn. We identified a substitution (c.914C>T) for the integrin β4 gene that has been associated with favorable outcome. A novel mutation (c.2011T>G) of unknown significance was also found in this patient who is now thriving.
November 30, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29182795/epidermolysis-bullosa-acquisita-in-an-adult-patient-with-previously-unrecognized-mild-dystrophic-eb-and-biallelic-col7a1-mutations
#12
Liliana Guerra, Angelo Giuseppe Condorelli, Paola Fortugno, Valentina Calabresi, Cristina Pedicelli, Giovanni Di Zenzo, Daniele Castiglia
Circulating anti-type VII collagen autoantibodies are frequently detected in patients with recessive dystrophic epidermolysis bullosa (RDEB). However, evidence supporting their pathogenic role in inducing epidermolysis bullosa acquisita (EBA) has been provided for only 1 individual with dominant dystrophic epidermolysis bullosa (DDEB). We describe here a patient who presented with dystrophic toenails since early childhood and developed trauma-induced skin blisters and oral erosions at age 26 years. Direct immunofluorescence showed IgG deposits with a u-serrated pattern along the cutaneous basement membrane zone, while no change in the expression of collagen VII could be detected by antigen mapping...
November 28, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29180315/a-novel-deletion-mutation-in-the-2b-domain-of-krt5-in-epidermolysis-bullosa-simplex-with-childhood-onset-migratory-circinate-erythema
#13
Sang Eun Lee, Ji Young Choi, Song-Ee Kim, Soo-Chan Kim
No abstract text is available yet for this article.
November 27, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29180129/genetic-diagnosis-of-epidermolysis-bullosa-recommendations-from-an-expert-spanish-research-group
#14
C Sánchez-Jimeno, M J Escámez, C Ayuso, M J Trujillo-Tiebas, M Del Río
Epidermolysis bullosa (EB) is a rare genetic disease that causes mucocutaneous fragility. It comprises a clinically and genetically heterogeneous group of disorder characterized by spontaneous or contact/friction-induced blistering. EB is classified into 4 types-simplex, junctional, dystrophic, and Kindler syndrome-and 30 subtypes. The disease is caused by defects in proteins implicated in dermal-epidermal adhesion. At least 19 genes have been characterized and more than 1000 mutations identified, thus rendering diagnosis complex...
November 24, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29179948/large-deletions-targeting-the-triple-helical-domain-of-collagen-vii-lead-to-mild-acral-dominant-dystrophic-epidermolysis-bullosa
#15
Nadja Chmel, Olivier Bornert, Ingrid Hausser, Gabriele Grüninger, Wiktor Borozkin, Jürgen Kohlhase, Alexander Nyström, Cristina Has
No abstract text is available yet for this article.
November 24, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29178638/living-with-a-rare-disorder-a-systematic-review-of-the-qualitative-literature
#16
REVIEW
Charlotte von der Lippe, Plata S Diesen, Kristin B Feragen
BACKGROUND: Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically. METHODS: We performed a systematic review, including qualitative studies on adults, published between 2000 and 2016...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29177377/-epidermolysis-bullosa-in-peru-clinical-and-epidemiological-study-of-patients-treated-in-a-national-reference-pediatric-hospital-1993-2015
#17
Rosario Torres-Iberico, Patricia Palomo-Luck, Gilmer Torres-Ramos, Roxana Lipa-Chancolla
OBJECTIVES: To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease. MATERIALS AND METHODS: Observational, descriptive and transversal study. We reviewed the clinical histories and laboratory tests of patients diagnosed with EB treated in INSN from 1993 to 2015. RESULTS: 93 patients were registered...
April 2017: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/29177376/-detection-of-influenza-a-b-and-subtypes-a-h1n1-pdm09-a-h3n2-viruses-by-multiple-qrt-pcr-in-clinical-samples
#18
Pool Marcos, Maribel Huaringa, Nancy Rojas, Victoria Gutiérrez, Sila Ruiton, Emelda Gallardo, Jorge Achata, Marco Galarza
OBJECTIVES.: To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease. MATERIAL AND METHODS: . Observational, descriptive and transversal study. We reviewed the clinical histories and laboratory tests of patients diagnosed with EB treated in INSN from 1993 to 2015. RESULTS.: 93 patients were registered...
April 2017: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/29173316/a-novel-mutation-in-junctional-plakoglobin-causing-lethal-congenital-epidermolysis-bullosa
#19
Veronica Rotemberg, Maria Garzon, Christine Lauren, Alejandro Iglesias, Sandhya S Brachio, Vimla Aggarwal, Nicholas Stong, David B Goldstein, Thomas Diacovo
We report a case of neonatal generalized erythema and epidermolysis resulting from a novel mutation in the junctional plakoglobin gene causing truncation of the plakoglobin protein. Expedited genetic testing enabled diagnosis while the patient was in the neonatal intensive care unit, providing valuable information for the clinicians and family.
December 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29168183/effectiveness-of-gastrostomy-for-improving-nutritional-status-and-quality-of-life-in-patients-with-epidermolysis-bullosa-a-systematic-review
#20
REVIEW
A P C Zidorio, E S Dutra, L C G Castro, K M B Carvalho
Inherited epidermolysis bullosa (EB) is a group of rare genetic disorders clinically characterized by a wide range of skin and mucosal blistering after minor trauma(1) . This condition is caused by mutations on genes coding for structural proteins of the skin and affects both genders from all ethnic groups, and its estimated prevalence is about 500,000 cases worldwide(2) . This article is protected by copyright. All rights reserved.
November 23, 2017: British Journal of Dermatology
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