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https://www.readbyqxmd.com/read/29341069/reliability-and-validity-of-iscoreb-instrument-for-scoring-clinical-outcomes-of-research-for-epidermolysis-bullosa
#1
A L Bruckner, D L Fairclough, J A Feinstein, I Lara-Corrales, Anne W Lucky, Jakub Tolar, Elena Pope
BACKGROUND: Epidermolysis bullosa (EB) is a group of rare and currently incurable genetic blistering disorders. As more pathogenic driven therapies are being developed, the need for EB-specific validated outcomes measures designed for use in clinical trials is becoming important. OBJECTIVES: We previously reported on development of an instrument for scoring clinical outcomes of research for Epidermolysis Bullosa (iscorEB), a new combined clinician and patient reported outcomes tool...
January 17, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29334134/a-comprehensive-next-generation-sequencing-assay-for-the-diagnosis-of-epidermolysis-bullosa
#2
Anne W Lucky, Neha Dagaonkar, Karen Lammers, Ammar Husami, Diane Kissell, Kejian Zhang
BACKGROUND: Historically, diagnosis of epidermolysis bullosa has required skin biopsies for electron microscopy, direct immunofluorescence to determine which gene(s) to choose for genetic testing, or both. METHODS: To avoid these invasive tests, we developed a high-throughput next-generation sequencing (NGS)-based diagnostic assay called EBSEQ that allows simultaneous detection of mutations in 21 genes with known roles in epidermolysis bullosa pathogenicity. Mutations are confirmed with traditional Sanger sequencing...
January 15, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29332930/bullosis-diabeticorum-a-rare-presentation-with-immunoglobulin-g-igg-deposition-related-vasculopathy-case-report-and-focused-review
#3
Hardik Sonani, Sohail Abdul Salim, Vishnu V Garla, Anna Wile, Venkataraman Palabindala
BACKGROUND Bullosis diabeticorum (BD) is a condition characterized by recurrent, spontaneous, and non-inflammatory blistering in patients with poorly controlled diabetes mellitus. While etiopathogenesis remains unclear, roles of neuropathy, vasculopathy and UV light are hypothesized. Most literature reports negative direct and indirect immunofluorescence findings in diabetics with bullous eruptions. Porphyria cutanea tarda, bullous pemphigoid, epidermolysis bullosa, and pseudoporphyria are other differential diagnoses of bullous lesions, and they must be excluded...
January 15, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29330848/cultured-allogeneic-fibroblast-injection-versus-fibroblasts-cultured-on-amniotic-membrane-scaffold-for-dystrophic-epidermolysis-bullosa-treatment
#4
H Moravvej, F Abdollahimajd, M-H Naseh, Z Piravar, E Abolhasani, N Mozafari, H Niknejad
BACKGROUND: Different methods of fibroblast application have been examined to treat recessive dystrophic epidermolysis bullosa (RDEB). OBJECTIVE: To compare the effects of intradermal injection of cultured allogeneic fibroblasts in healing RDEB wounds with that of fibroblasts seeded on amniotic membrane scaffolds (FAMS) or standard wound care (SWC) with Vaseline gauze as controls. MATERIALS &METHODS: Seven patients were recruited, and seven wounds were assessed in each patient: three wounds were treated with injection of intradermal fibroblasts, three were treated with FAMS, and one was dressed with SWC...
January 12, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29326176/combinatorial-omics-analysis-reveals-perturbed-lysosomal-homeostasis-in-collagen-vii-deficient-keratinocytes
#5
Kerstin Thriene, Björn Andreas Grüning, Olivier Bornert, Anika Erxleben, Juna Leppert, Ioannis Athanasiou, Ekkehard Weber, Dimitra Kiritsi, Alexander Nyström, Thomas Reinheckel, Rolf Backofen, Cristina Has, Leena Bruckner-Tuderman, Joern Dengjel
The extracellular matrix protein collagen VII is part of the microenvironment of stratified epithelia and critical in organismal homeostasis. Mutations in the encoding gene COL7A1 lead to the skin disorder dystrophic epidermolysis bullosa (DEB), are linked to skin fragility and progressive inflammation-driven fibrosis that facilitates aggressive skin cancer. So far, these changes have been linked to mesenchymal alterations, the epithelial consequences of collagen VII loss remaining under-addressed. As epithelial dysfunction is a principal initiator of fibrosis, we performed a comprehensive transcriptome and proteome profiling of primary human keratinocytes to generate global and detailed images of dysregulated epidermal molecular pathways linked to loss of collagen VII...
January 11, 2018: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/29305555/impaired-lymphoid-extracellular-matrix-impedes-antibacterial-immunity-in-epidermolysis-bullosa
#6
Alexander Nyström, Olivier Bornert, Tobias Kühl, Christine Gretzmeier, Kerstin Thriene, Jörn Dengjel, Andrea Pfister-Wartha, Dimitra Kiritsi, Leena Bruckner-Tuderman
Genetic loss of collagen VII causes recessive dystrophic epidermolysis bullosa (RDEB), a skin fragility disorder that, unexpectedly, manifests also with elevated colonization of commensal bacteria and frequent wound infections. Here, we describe an unprecedented systemic function of collagen VII as a member of a unique innate immune-supporting multiprotein complex in spleen and lymph nodes. In this complex, collagen VII specifically binds and sequesters the innate immune activator cochlin in the lumen of lymphoid conduits...
January 5, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29304338/the-skin-ny-on-regenerating-the-largest-organ-to-save-a-patient-s-life
#7
Rui Yi
Stem cells hold enormous potential to regenerate an entire organ for organ replacement therapy. Recently, in Nature, Hirsch et al. (2017) restored the expression of laminin-332 in epidermal stem cells isolated from an individual with junctional epidermolysis bullosa and grafted the entire skin back to save the patient's life.
January 4, 2018: Cell Stem Cell
https://www.readbyqxmd.com/read/29291383/genetic-profiles-of-squamous-cell-carcinomas-associated-with-recessive-dystrophic-epidermolysis-bullosa-unveil-notch-and-tp53-mutations-and-an-increased-myc-expression
#8
L Sans-DeSanNicolas, G Caratú, O Vidal-Cortés, S Sanchez-Redondo, B Ferrer, F Mancuso, E González-Sanchez, M Pérez-Alea, K McGrail, J Hernandez-Losa, D Bodet, A Vivancos, V Garcia-Patos, J A Recio
No abstract text is available yet for this article.
December 29, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29276186/il-6-il-10-ratio-as-a-prognostic-and-predictive-marker-of-the-severity-of-inherited-epidermolysis-bullosa
#9
Marilina Tampoia, Letizia Abbracciavento, Marella Morrone, Ruggiero Fumarulo
BACKGROUND: Recent studies have shown that cytokines have an important role in the pathogenesis of inflammatory diseases and can be used as prognostic markers. OBJECTIVE: To evaluate the IL-6/IL-10 ratio in patients with Inherited Epidermolysis Bullosa (EB) as a prognostic marker. METHODS: Serum levels of IL-6 and IL-10 were measured in 13 patients with recessive dystrophic EB (RDEB) as well as 10 with EB Simplex (EBS), and in 18 healthy subjects...
December 2017: Iranian Journal of Immunology: IJI
https://www.readbyqxmd.com/read/29274938/therapies-for-genetic-extracellular-matrix-diseases-of-the-skin
#10
REVIEW
Alexander Nyström, Rocco Bernasconi, Olivier Bornert
A specialized, highly developed dermal extracellular matrix (ECM) provides the skin with its unique mechano-resilient properties and is vital for organ function. Accordingly, genetically acquired deficiency of dermal ECM proteins or proteins essential for the post-translational modification and homeostasis of the dermal ECM, results in diseases affecting the skin. Some of these diseases are lethal or lead to severe complications for the affected individuals. At present limited efficient and evidence-based treatment options exist for genetic ECM diseases of the skin...
December 21, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29258894/the-conundrum-of-allogeneic-bone-marrow-transplantation-for-epidermolysis-bullosa
#11
Jouni Uitto
Epidermolysis bullosa (EB) is a heterogeneous group of heritable blistering disorders with considerable morbidity and mortality. Currently, there is no effective treatment or cure for EB, but bone marrow transplantation (BMT) has been suggested to improve the clinical presentation and quality of life in some patients with the recessive dystrophic subtype of EB. In this issue, Hünefeld et al. (pp.000) address the issue whether BMT could be applied to patients with EB simplex with intra-epidermal blistering...
December 16, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29249248/-what-s-new-in-dermatological-research
#12
P-E Stoebner
This manuscript provides a selection of dermatological research manuscripts published from September 2016 to August 2017. It is not an exhaustive review but rather a selection of manuscripts susceptible to modify the dermatological practice or affording new pathophysiologic mechanisms and new therapeutic approaches. The following areas of interest are concerned: recognition of dermatological images by artificial intelligence, new concepts in atopic dermatitis, wound repair and hair growth cycle. New data concerning melanomagenesis, epidermolysis bullosa simplex and drug eruption are also highlighted...
December 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29248480/functional-therapies-for-cutaneous-wound-repair-in-epidermolysis-bullosa
#13
Patricia Peking, Ulrich Koller, Eva M Murauer
Chronic wounding as a result of recurrent skin blistering in the painful genetic skin disease epidermolysis bullosa, may lead to life-threatening infections, increased risk of tumor formation, and other serious medical complications. Therefore, epidermolysis bullosa patients have an urgent need for optimal wound care and tissue regeneration. Therapeutic strategies using gene-, protein-, and cell-therapies are being developed to improve clinical symptoms, and some of them have already been investigated in early clinical trials...
December 14, 2017: Advanced Drug Delivery Reviews
https://www.readbyqxmd.com/read/29242947/the-position-of-targeted-next-generation-sequencing-in-epidermo-lysis-bullosa-diagnosis
#14
Cristina Has, Julia Küsel, Antonia Reimer, Julia Hoffmann, Franziska Schauer, Andreas Zimmer, Judith Fischer
The precise classification of epidermolysis bullosa (EB) into 4 main types and more than 30 subtypes is based on the level of skin cleavage, as well as clinical and molecular features, and is crucial for early prognostication, case management, genetic counselling and prenatal or pre-implantation diagnosis. We report here the molecular pathology of 40 consecutive cases of suspected EB, which were investigated by immunofluorescence mapping (IFM) and/or by a targeted next-generation sequencing (NGS) multi-gene panel...
December 15, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29233035/from-the-wound-to-the-bench-exoproteome-interplay-between-wound-colonizing-staphylococcus-aureus-strains-and-co-existing-bacteria
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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