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https://www.readbyqxmd.com/read/28895441/successful-placement-of-a-baha-implant-in-a-patient-with-epidermolysis-bullosa-a-case-report-and-review-of-the-literature
#1
Jason R Brown, D Micah Milgraum, Farhaad R Riyaz, Marla N Jahnke, Prasad John Thottam
INTRODUCTION: Epidermolysis bullosa (EB) is a spectrum of mechanobullous disorders characterized by blistering following minor trauma or traction to the skin. Hearing loss in this population is poorly described in the otolaryngology literature, and its treatment oftentimes results in external auditory canal skin irritation. CASE PRESENTATION: We present the case of a 26-year-old female with EB and mixed hearing loss unable to wear conventional hearing aids due to sequelae of the external auditory canals...
September 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28894930/oncological-safety-and-technical-feasibility-of-nipple-sparing-mastectomy-for-breast-cancer-the-hong-kong-experience
#2
Yolanda Ho-Yan Chan, Wai-Ming Yau, Polly Suk-Yee Cheung
BACKGROUND: Nipple-sparing mastectomy (NSM) has gained widespread popularity in recent years. Nonetheless, patient selection, technical consideration and oncological safety of its extension to breast cancer treatment remain uncertain. Few publications have reviewed the application of NSM in Asian populations. METHODS: We retrospectively reviewed 91 women with malignant breast tumours, who underwent 97 NSM in Hong Kong Sanatorium and Hospital from 2009 to 2015. Breast cancer patients who required mastectomy and opted for immediate reconstruction were considered for NSM if they showed no obvious nipple involvement clinically...
September 11, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28892093/rapid-generation-of-col7a1-mouse-model-of-recessive-dystrophic-epidermolysis-bullosa-and-partial-rescue-via-immunosuppressive-dermal-mesenchymal-stem-cells
#3
Beau R Webber, Kyle T O'Connor, Ron T McElmurry, Elise N Durgin, Cindy R Eide, Christopher J Lees, Megan J Riddle, Wendy E Mathews, Natasha Y Frank, Mark A Kluth, Christoph Ganss, Branden S Moriarity, Markus H Frank, Mark J Osborn, Jakub Tolar
Recessive dystrophic epidermolysis bullosa (RDEB) is a debilitating and ultimately lethal blistering disease caused by mutations to the Col7a1 gene. Development of novel cell therapies for the treatment of RDEB would be fostered by having immunodeficient mouse models able to accept human cell grafts; however, immunodeficient models of many genodermatoses such as RDEB are lacking. To overcome this limitation, we combined the clustered regularly interspaced short palindromic repeats and associated nuclease (CRISPR/Cas9) system with microinjection into NOD/SCID IL2rγc(null) (NSG) embryos to rapidly develop an immunodeficient Col7a1(-/-) mouse model of RDEB...
September 11, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28888469/cut-and-paste-efficient-homology-directed-repair-of-a-dominant-negative-krt14-mutation-via-crispr-cas9-nickases
#4
Thomas Kocher, Patricia Peking, Alfred Klausegger, Eva Maria Murauer, Josefina Piñón Hofbauer, Verena Wally, Thomas Lettner, Stefan Hainzl, Michael Ablinger, Johann Wolfgang Bauer, Julia Reichelt, Ulrich Koller
With the ability to induce rapid and efficient repair of disease-causing mutations, CRISPR/Cas9 technology is ideally suited for gene therapy approaches for recessively and dominantly inherited monogenic disorders. In this study, we have corrected a causal hotspot mutation in exon 6 of the keratin 14 gene (KRT14) that results in generalized severe epidermolysis bullosa simplex (EBS-gen sev), using a double-nicking strategy targeting intron 7, followed by homology-directed repair (HDR). Co-delivery into EBS keratinocytes of a Cas9 D10A nickase (Cas9n), a predicted single guide RNA pair specific for intron 7, and a minicircle donor vector harboring the homology donor template resulted in a recombination efficiency of >30% and correction of the mutant KRT14 allele...
August 24, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28887841/evidence-for-a-contributory-role-of-a-xenogeneic-immune-response-in-experimental-epidermolysis-bullosa-acquisita
#5
Markus Niebuhr, Michael Kasperkiewicz, Sebastian Maass, Eva Hauenschild, Katja Bieber, Ralf J Ludwig, Jürgen Westermann, Kathrin Kalies
Autoimmune diseases affect a large fraction of the population in Western countries. To elucidate the underlying causes, autoantibody transfer-induced mouse models have been established that greatly contributed to the understanding of the pathophysiology of these diseases. However, the role of a potentially co-occurring murine xenogeneic immune response to commonly utilized rabbit anti-mouse IgG remains poorly understood. Using the established rabbit anti-mouse type VII collagen (COL7) IgG-induced mouse model of the mucocutaneous blistering disorder epidermolysis bullosa acquisita (EBA), we found in this study a profound T and B cell response along with an altered cytokine expression profile in draining lymph nodes of mice injected with the xenogeneic IgG...
September 8, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28887824/structural-proteins-of-the-dermal-epidermal-junction-targeted-by-autoantibodies-in-pemphigoid-diseases
#6
REVIEW
Stephanie Goletz, Detlef Zillikens, Enno Schmidt
The dermal-epidermal junction consists of a network of several interacting structural proteins which strengthen adhesion and mediate signaling events. This structural network consists of hemidesmosomal-anchoring filament complexes connecting the basal keratinocytes to the basement membrane. The anchoring filaments in turn interact with the anchoring fibrils to attach the basement membrane to the underlying dermis. Several of these structural proteins are recognized by autoantibodies in pemphigoid diseases, a heterogeneous group of clinically and immunopathologically diverse entities...
September 8, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28872088/-clinical-characteristics-and-prognosis-for-126-patients-with-severe-drug-eruption
#7
Jie Li, Manyun Mao, Ni Tang, Rui Zhai, Wu Zhu, Mei Yi, Mingliang Chen
To explore the clinical characteristics of various types of severe drug eruption and common sensitized drugs, and to provide clinical references for reducing the incidence of severe drug eruption.
 Methods: The clinical data regarding 126 cases of severe drug eruption were analyzed retrospectively from June 2009 to May 2017 in Xiangya Hospital, Central South University.
 Results: In the 126 cases of severe drug eruption, the distribution of men and women ratio was 1:1.38. The length of stay was (12.7±9...
August 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28854309/determining-the-incidence-of-pneumocystis-pneumonia-in-patients-with-autoimmune-blistering-diseases-not-receiving-routine-prophylaxis
#8
Kyle T Amber, Aniek Lamberts, Farzan Solimani, Arianna F Agnoletti, Dario Didona, Ilona Euverman, Emanuele Cozzani, Lee Haur Yueh, Giovanni Di Zenzo, Yael Anne Leshem, Daniel Mimouni, Michael Hertl, Barbara Horvath
Importance: Pneumocystis pneumonia (PCP) is a potentially lethal opportunistic infection that primary prophylaxis can help prevent. The risk of prophylactic therapy must be weighed against the incidence of PCP in the patient population. Prophylaxis most frequently involves trimethoprim-sulfamethoxazole, with second-line therapies, including atovaquone, dapsone, and pentamide. The indication for prophylaxis in immunocompromised patients without HIV is less well defined. Previously, an incidence of at least 3...
August 30, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28853495/epidemiology-and-outcome-of-squamous-cell-carcinoma-in-epider-molysis-bullosa-in-australia-and-new-zealand
#9
Minhee Kim, Minmin Li, Lizbeth R A Intong-Wheeler, Kim Tran, Damian Marucci, Dedee F Murrell
We investigate the epidemiology and outcomes of squamous cell carcinoma (SCC) in recessive dystrophic epidermolysis bullosa (RDEB) from the Australasian EB registry cohort. Seventeen out of 49 (34.6%) RDEB patients developed at least one SCC. Data detailing SCC was obtainable from 16/17 RDEB-SCC patients. A total number of 161 primary SCCs occurred in 16 RDEB-SCC patients with an average of 10 SCCs per person. The earliest age of first SCC development was 16 years. Eleven out of 16 RDEB-SCC patients eventually developed metastatic SCCs...
August 30, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28832953/colchicine-an-ancient-drug-with-novel-applications
#10
REVIEW
B Dasgeb, D Kornreich, K McGuinn, L Okon, I Brownell, D L Sackett
Colchicine is a historic treatment for gout that has been used for more than a millennium. It is the treatment of choice for Familial Mediterranean Fever and its associated complication, amyloidosis. The 2009 FDA approval of colchicine as a new drug had research consequences. Recent investigations utilizing large cohorts of gout patients who have been taking colchicine for years have demonstrated novel applications within oncology, immunology, cardiology and dermatology. Some emerging dermatologic uses include the treatment of epidermolysis bullosa acquisita, leukocytoclastic vasculitis, aphthous stomatitis and others...
August 18, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28830826/multigene-next-generation-sequencing-panel-identifies-pathogenic-variants-in-patients-with-unknown-subtype-of-epidermolysis-bullosa-subclassification-with-prognostic-implications
#11
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Andrew Touati, Soheila Sotoudeh, Maryam Abiri, Mohammadreza Barzgar, Nessa Aghazadeh, Hamidreza Mahmoudi, Sara Norouz-Zadeh, Mohammad Hamid, Mahla Zahabiyon, Hamideh Bagherian, Sirous Zeinali, Paolo Fortina, Jouni Uitto
No abstract text is available yet for this article.
August 19, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28812281/preclinical-development-of-an-automated-injection-device-for-intradermal-delivery-of-a-cell-based-therapy
#12
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
#13
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
#14
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/28796109/resurfacing-of-the-mid-and-lower-faces-by-preexpanded-supraclavicular-flap
#15
Muxin Zhao, Yangqun Li, Lisi Xu, Zhe Yang, Chunmei Hu, Yong Tang, Wen Chen, Ning Ma, Weixin Wang, Jun Feng
Extensive scarring and giant nevi on the mid and lower faces places further demands on scar resurfacing in terms of match, size, and thickness. The area of supraclavicular cervical flap is rather limited, but the expansion could expand its utility in facial resurfacing.Rectangular expanders were inserted via the incisions at the upper fringes of clavicles, and implanted under supraclavicular flap areas. After full expansion, the flap based on supraclavicular artery was elevated to cover the defects left by surgical removal of scar or tumor...
September 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28777847/-study-of-a-family-with-epidermolysis-bullosa-simplex-resulting-from-a-novel-mutation-of-krt14-gene
#16
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
#17
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
#18
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
#19
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
#20
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
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