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Epidermolysis bullosa

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https://www.readbyqxmd.com/read/28812281/preclinical-development-of-an-automated-injection-device-for-intradermal-delivery-of-a-cell-based-therapy
#1
Giulia Leoni, Alex Lyness, Patrick Ginty, Rindi Schutte, Gopalan Pillai, Gayatri Sharma, Paul Kemp, Natalie Mount, Michaela Sharpe
Current methods for intradermal delivery of therapeutic products in clinical use include manual injection via the Mantoux technique and the use of injection devices, primarily developed for the delivery of vaccines and small molecules. A novel automated injection device is presented specifically designed for accurate delivery of multiple doses of product through a number of adjustable injection parameters, including injection depth, dose volume and needle insertion speed. The device was originally conceived for the delivery of a cell-based therapy to patients with skin wounds caused by epidermolysis bullosa...
August 15, 2017: Drug Delivery and Translational Research
https://www.readbyqxmd.com/read/28811514/differential-epitope-recognition-in-the-immunodominant-staphylococcal-antigen-a-of-staphylococcus-aureus-by-mouse-versus-human-igg-antibodies
#2
Dennis G A M Koedijk, Francisco Romero Pastrana, Hedzer Hoekstra, Sanne van den Berg, Jaap Willem Back, Carolien Kerstholt, Rianne C Prins, Irma A J M Bakker-Woudenberg, Jan Maarten van Dijl, Girbe Buist
The immunodominant staphylococcal antigen A (IsaA) is a potential target for active or passive immunization against the important human pathogen Staphylococcus aureus. Consistent with this view, monoclonal antibodies against IsaA were previously shown to be protective against S. aureus infections in mouse models. Further, patients with the genetic blistering disease epidermolysis bullosa (EB) displayed high IsaA-specific IgG levels that could potentially be protective. Yet, mice actively immunized with IsaA were not protected against S...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28800953/col7a1-editing-via-crispr-cas9-in-recessive-dystrophic-epidermolysis-bullosa
#3
Stefan Hainzl, Patricia Peking, Thomas Kocher, Eva M Murauer, Fernando Larcher, Marcela Del Rio, Blanca Duarte, Markus Steiner, Alfred Klausegger, Johann W Bauer, Julia Reichelt, Ulrich Koller
Designer nucleases allow specific and precise genomic modifications and represent versatile molecular tools for the correction of disease-associated mutations. In this study, we have exploited an ex vivo CRISPR/Cas9-mediated homology-directed repair approach for the correction of a frequent inherited mutation in exon 80 of COL7A1, which impairs type VII collagen expression, causing the severe blistering skin disease recessive dystrophic epidermolysis bullosa. Upon CRISPR/Cas9 treatment of patient-derived keratinocytes, using either the wild-type Cas9 or D10A nickase, corrected single-cell clones expressed and secreted similar levels of type VII collagen as control keratinocytes...
July 13, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28777847/-study-of-a-family-with-epidermolysis-bullosa-simplex-resulting-from-a-novel-mutation-of-krt14-gene
#4
Lanlan Meng, Juan Du, Wen Li, Guangxiu Lu, Yueqiu Tan
OBJECTIVE: To determine the molecular etiology for a Chinese pedigree affected with epidermolysis bullosa simplex (EBS). METHODS: Target region sequencing using a hereditary epidermolysis bullosa capture array combined with Sanger sequencing and bioinformatics analysis were used. Mutation taster, PolyPhen-2, Provean, and SIFT software and NCBI online were employed to assess the pathogenicity and conservation of detected mutations. One hundred healthy unrelated individuals were used as controls...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777697/combined-digital-conventional-technique-for-rehabilitation-of-a-patient-with-epidermolysis-bullosa-a-case-letter
#5
Marzieh Alikhasi, Reza Sharifi, Mehran Falahchai
Epidermolysis bullosa (EB) is a hereditary mucocutaneous disorder with several oral and systemic manifestations. Major problems with dental management of such patients are blisters induced from trauma and microstomia. Therefore, fixed implant-supported prosthesis may result in higher levels of satisfaction in complete edentulous EB patients. In several cases, the clinicians encounter with difficulties during the treatment procedure using conventional methods. In following report, oral rehabilitation of a completely edentulous EB patient with fixed implant-supported prosthesis on four dental implants using combination of digital and conventional methods are described...
August 4, 2017: Journal of Oral Implantology
https://www.readbyqxmd.com/read/28767192/expanding-the-phenotype-of-dst-related-disorder-a-case-report-suggesting-a-genotype-phenotype-correlation
#6
Gerarda Cappuccio, Michele Pinelli, Annalaura Torella, Marianna Alagia, Renata Auricchio, Annamaria Staiano, Vincenzo Nigro, Nicola Brunetti-Pierri
The gene DST encodes for the large protein BPAG1 involved in hemidesmosomes. Its alternative splicing gives rise to tissue-enriched isoforms in brain, muscle, and skin. The few patients described so far with bi-allelic mutations in the DST gene have either a skin phenotype of epidermolysis bullosa simplex or a neurological phenotype. Here, we report a 17-year-old female individual presenting with a more complex phenotype consisting of both skin and neuronal involvement, in addition to several previously unreported findings, such as iris heterochromia, cataract, hearing impairment, syringomyelia, behavioral, and gastrointestinal issues, osteoporosis, and growth hormone deficiency...
August 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28765827/traceless-targeting-and-isolation-of-gene-edited-immortalized-keratinocytes-from-epidermolysis-bullosa-simplex-patients
#7
Magomet Aushev, Ulrich Koller, Claudio Mussolino, Toni Cathomen, Julia Reichelt
Epidermolysis bullosa simplex (EBS) is a blistering skin disease caused by dominant-negative mutations in either KRT5 or KRT14, resulting in impairment of keratin filament structure and epidermal fragility. Currently, nearly 200 mutations distributed across the entire length of these genes are known to cause EBS. Genome editing using programmable nucleases enables the development of ex vivo gene therapies for dominant-negative genetic diseases. A clinically feasible strategy involves the disruption of the mutant allele while leaving the wild-type allele unaffected...
September 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28761263/a-case-of-membranous-aplasia-cutis-congenita-and-dermoscopic-features
#8
Belén Lozano-Masdemont
Membranous, bullous, or cystic aplasia cutis congenita is a clinical subtype of aplasia cutis, covered with a membranous or glistening surface. A male newborn presented at birth with two flat lesions on the left parietal scalp, surrounded by a rim of terminal hairs. Physical examination revealed two translucent papules. On dermoscopy, they showed a reddish background, thin, lineal vessels and, remarkably few hair bulbs could be seen because of the translucency of the lesion. No skull bone and brain defects were found...
January 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/28754522/finding-patients-using-similarity-measures-in-a-rare-diseases-oriented-clinical-data-warehouse-dr-warehouse-and-the-needle-in-the-needle-stack
#9
Garcelon Nicolas, Neuraz Antoine, Benoit Vincent, Salomon Rémi, Kracker Sven, Suarez Felipe, Bahi-Buisson Nadia, Hadj-Rabia Smail, Fischer Alain, Munnich Arnold, Burgun Anita
OBJECTIVE: In the context of rare diseases, it may be helpful to detect patients with similar medical histories, diagnoses and outcomes from a large number of cases with automated methods. To reduce the time to find new cases, we developed a method to find similar patients given an index case leveraging data from the electronic health records. MATERIALS AND METHODS: We used the clinical data warehouse of a children academic hospital in Paris, France (Necker-Enfants Malades), containing about 400,000 patients...
July 25, 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/28749386/epidermolysis-bullosa-acquisita-and-anti-p200-pemphigoid-as-major-subepidermal-autoimmune-bullous-diseases-diagnosed-by-floor-binding-on-indirect-immunofluorescence-microscopy-using-human-salt-split-skin
#10
Nupur Goyal, Raghavendra Rao, Shrutakirthi D Shenoi, Sathish Pai, Pramod Kumar, Balbir S Bhogal, Enno Schmidt, Detlef Zillikens
BACKGROUND: Subepidermal autoimmune bullous diseases are a diverse group of diseases with overlapping clinical and immunopathological features. Indirect immunofluorescence microscopy on artificially split skin helps to classify these conditions into those with staining on the epidermal side of the split ("roof-binding") and those with staining on the dermal side ("floor-binding"). Epidermolysis bullosa acquisita is the prototype of "floor-binding" subepidermal autoimmune bullous diseases...
September 2017: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/28736230/pro-inflammatory-chemokines-and-cytokines-dominate-the-blister-fluid-molecular-signature-in-epidermolysis-bullosa-patients-and-affect-leukocyte-and-stem-cell-migration
#11
Vitali Alexeev, Julio Cesar Salas-Alanis, Francis Palisson, Lila Mukhtarzada, Giulio Fortuna, Jouni Uitto, Andy South, Olga Igoucheva
Hereditary epidermolysis bullosa (EB) is associated with skin blistering and the development of chronic non-healing wounds. Although clinical studies have shown that cell-based therapies improve wound healing, recruitment of therapeutic cells to blistering skin and to more advanced skin lesions remains a challenge. Here, we analyzed cytokines and chemokines in blister fluids (BF) of patients affected by dystrophic, junctional and simplex EB. Our analysis revealed high levels of CXCR1, CXCR2, CCR2 and CCR4 ligands, particularly dominant in dystrophic and junctional EB...
July 20, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28733990/dimethyl-fumarate-modulates-neutrophil-extracellular-trap-formation-in-a-glutathione-and-superoxide-dependent-manner
#12
J H O Hoffmann, K Schaekel, D Hartl, A H Enk, E N Hadaschik
BACKGROUND: Neutrophil (polymorphonuclear) granulocytes (PMN) were shown to contribute to the pathogenesis of psoriasis by releasing IL-17 and LL-37/ DNA complexes via neutrophil extracellular traps (NET), webs of chromatin strands decorated with antimicrobial peptides, in psoriatic skin. Fumaderm(®) , a fumaric acid ester (FAE) formulation consisting of different FAE salts has been successfully used to treat psoriasis for decades. Most recently, FAE treatment was reported to inhibit NET formation in murine epidermolysis bullosa acquisita...
July 22, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28726572/successful-forearm-prosthesis-fitting-in-a-patient-with-epidermolysis-bullosa-dystrophica-case-report
#13
Carl Verduyn, Marie-Anne Morren, Marguerite Stas, Friedl Sinnaeve, Katarina Segers, Carlotte Kiekens
BACKGROUND: Epidermolysis bullosa dystrophica is a rare dermatological disease characterized by extreme skin fragility and elevated risk of developing a squamous cell carcinoma. In some cases, amputation of a limb is necessary. Case description and methods: A 37-year-old man with recessive, severe generalized epidermolysis bullosa dystrophica developed a squamous cell carcinoma on the right forearm requiring a below-elbow amputation. Preoperative advice concerning indication and level of amputation was given...
July 1, 2017: Prosthetics and Orthotics International
https://www.readbyqxmd.com/read/28719980/distinguishing-epidermolysis-bullosa-acquisita-from-bullous-pemphigoid-without-direct-immunofluorescence
#14
Kerry M Gardner, Richard I Crawford
BACKGROUND: It has been postulated that periodic acid-Schiff staining of basement membrane can predict direct immunofluorescence patterns seen in epidermolysis bullosa acquisita and bullous pemphigoid. It has also been suggested that the type of inflammatory infiltrate or presence of fraying of basal keratinocytes may differentiate these two conditions. OBJECTIVE: In this study, we aimed to confirm these observations. METHODS: We reviewed 13 cases of direct immunofluorescence-confirmed epidermolysis bullosa acquisita and 19 cases of direct immunofluorescence-confirmed bullous pemphigoid, all with a subepidermal blister in the routinely processed specimen...
July 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28718937/wound-healing-in-epidermolysis-bullosa
#15
L B Tuderman, J E Mellerio
Epidermolysis bullosa (EB) is a group of inherited diseases characterised by recurrent skin blistering due to impaired epidermal or dermo-epidermal adhesion. In some subtypes, damage to internal organs causes serious comorbidities, and an increased risk of early and aggressive squamous cell carcinoma (SCC) characterizes recessive dystrophic EB (RDEB). It is likely that EB will only be cured by mutation-correction interventions, but until that goal becomes a reality we need to pool and extend knowledge about wound management and other strategies to improve quality of life for people with EB...
July 18, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28705276/evaluation-of-autoimmune-bullous-diseases-in-elderly-patients-in-iran-a-10-year-retrospective-study
#16
Maryam Ghiasi, Maryam Daneshpazhooh, Muhammadkhuja Ismonov, Cheyda Chams-Davatchi
Autoimmune bullous diseases (ABDs) are uncommon but significant skin disorders with relatively high morbidity and mortality. Some surveys have been carried out to describe the spectrum of ABDs in a region, but this is the first that has focused on ABDs in elderly patients. This study was conducted to determine the clinicoepidemiologic features of ABDs in elderly patients. Medical records of all ABD patients with disease onset after the age of 60 years who presented to the Autoimmune Bullous Diseases Research Center, Tehran, Iran between April 2003 and March 2013 were reviewed...
2017: Skinmed
https://www.readbyqxmd.com/read/28697212/maxillary-implant-prosthodontic-treatment-using-digital-laboratory-protocol-for-a-patient-with-epidermolysis-bullosa-a-case-history-report
#17
Rubén Agustín-Panadero, Blanca Serra-Pastor, David Peñarrocha-Oltra, Miguel Peñarrocha-Diago
Epidermolysis bullosa belongs to a group of genetic diseases that present with skin disorders and is characterized by generalized blister formation in response to mechanical trauma. This article reports on the management of a recessive dystrophic epidermolytic patient with four remaining periodontally compromised maxillary teeth. Treatment involved placement of four maxillary implants and use of computer-aided design/computer-assisted manufacture techniques to fabricate a fixed full-arch implant-supported prosthesis...
July 2017: International Journal of Prosthodontics
https://www.readbyqxmd.com/read/28693719/type-xvii-collagen-coordinates-proliferation-in-the-interfollicular-epidermis
#18
Mika Watanabe, Ken Natsuga, Wataru Nishie, Yasuaki Kobayashi, Giacomo Donati, Shotaro Suzuki, Yu Fujimura, Tadasuke Tsukiyama, Hideyuki Ujiie, Satoru Shinkuma, Hideki Nakamura, Masamoto Murakami, Michitaka Ozaki, Masaharu Nagayama, Fiona M Watt, Hiroshi Shimizu
Type XVII collagen (COL17) is a transmembrane protein located at the epidermal basement membrane zone. COL17 deficiency results in premature hair aging phenotypes and in junctional epidermolysis bullosa. Here, we show that COL17 plays a central role in regulating interfollicular epidermis (IFE) proliferation. Loss of COL17 leads to transient IFE hypertrophy in neonatal mice owing to aberrant Wnt signaling. The replenishment of COL17 in the neonatal epidermis of COL17-null mice reverses the proliferative IFE phenotype and the altered Wnt signaling...
July 11, 2017: ELife
https://www.readbyqxmd.com/read/28691931/gentamicin-induces-functional-type-vii-collagen-in-recessive-dystrophic-epidermolysis-bullosa-patients
#19
David T Woodley, Jon Cogan, Yingping Hou, Chao Lyu, M Peter Marinkovich, Douglas Keene, Mei Chen
BACKGROUND: Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. METHODS: A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations...
August 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28690212/focal-adhesions-in-the-skin-lessons-learned-from-skin-fragility-disorders
#20
Cristina Has, Yinghong He
Focal adhesions are large multiprotein cell-matrix adhesion complexes, which regulate multiple cellular functions, such as adhesion and migration. Their biological significance in skin is underscored by two genetic disorders, the Kindler syndrome and the interstitial lung disease, nephrotic syndrome and epidermolysis bullosa, in which mutations affect focal adhesion proteins, kindlin-1 and the integrin α3 subunit, respectively. Here we provide an overview of what we learned from the study of the molecular mechanisms of these diseases...
June 1, 2017: European Journal of Dermatology: EJD
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