GSE236849 Accelerated Aging and Microsatellite Instability in Recessive Dystrophic Epidermolysis Bullosa-Associated Cutaneous Squamous Cell Carcinoma
In this study, we utilized a novel approach leveraging WGS and RNA-seq across three different tissues in a single RDEB patient to gain insight into possible mechanisms of RDEB-associated SCC progression and to identify potential novel therapeutic options. As a result, we identified PLK-1 as a possible candidate for targeted therapy and discovered microsatellite instability and accelerated aging as factors potentially contributing to the aggressive nature and early onset of RDEB SCC. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - February 17, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
U-Serrated and N-Serrated Patterns in Bullous Pemphigoid, Epidermolysis Bullosa Acquisita, and Bullous Lupus: A Retrospective Observational Study
(Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - February 16, 2024 Category: Dermatology Authors: Catherine S. Barker, Evelyn Bruner, Sally Self, Dirk M. Elston Source Type: research
A Top-Notch Target
In an innovative and comprehensive study, Condorelli et al. (2024) repurpose 2 γ-secretase inhibitors for the treatment of fibrosis in recessive dystrophic epidermolysis bullosa (RDEB). The mechanisms leading to fibrosis are diverse. However, they generally involve some degree of tissue damage that either directly or through epithelial, endothelial, or inflammatory mediators activate tissue-resident fibroblasts. Activated fibroblasts produce and contract a profibrotic extracellular matrix (ECM), establishing a lesser compliant tissue. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - February 14, 2024 Category: Dermatology Authors: Alexander Nystr öm, Jörn Dengjel Tags: Commentary Source Type: research
A multidisciplinary approach to managing lymphorroea in primary lymphoedema: a case study
This report highlights the importance of a multidisciplinary approach to lymphoedema management, including lymphorrhoea control that fitted in with the patient's daily life. It is hoped that this article will contribute to the improvement of the quality of life of patients with lymphoedema.PMID:38335106 | DOI:10.12968/bjon.2024.33.3.104 (Source: British Journal of Nursing)
Source: British Journal of Nursing - February 9, 2024 Category: Nursing Authors: Misako Dai Shuji Yamashita Rui Yang Mutsumi Okazaki Junko Sugama Hiromi Sanada Source Type: research
A multidisciplinary approach to managing lymphorroea in primary lymphoedema: a case study
This report highlights the importance of a multidisciplinary approach to lymphoedema management, including lymphorrhoea control that fitted in with the patient's daily life. It is hoped that this article will contribute to the improvement of the quality of life of patients with lymphoedema.PMID:38335106 | DOI:10.12968/bjon.2024.33.3.104 (Source: British Journal of Nursing)
Source: British Journal of Nursing - February 9, 2024 Category: Nursing Authors: Misako Dai Shuji Yamashita Rui Yang Mutsumi Okazaki Junko Sugama Hiromi Sanada Source Type: research
A multidisciplinary approach to managing lymphorroea in primary lymphoedema: a case study
This report highlights the importance of a multidisciplinary approach to lymphoedema management, including lymphorrhoea control that fitted in with the patient's daily life. It is hoped that this article will contribute to the improvement of the quality of life of patients with lymphoedema.PMID:38335106 | DOI:10.12968/bjon.2024.33.3.104 (Source: British Journal of Nursing)
Source: British Journal of Nursing - February 9, 2024 Category: Nursing Authors: Misako Dai Shuji Yamashita Rui Yang Mutsumi Okazaki Junko Sugama Hiromi Sanada Source Type: research
A multidisciplinary approach to managing lymphorroea in primary lymphoedema: a case study
This report highlights the importance of a multidisciplinary approach to lymphoedema management, including lymphorrhoea control that fitted in with the patient's daily life. It is hoped that this article will contribute to the improvement of the quality of life of patients with lymphoedema.PMID:38335106 | DOI:10.12968/bjon.2024.33.3.104 (Source: British Journal of Nursing)
Source: British Journal of Nursing - February 9, 2024 Category: Nursing Authors: Misako Dai Shuji Yamashita Rui Yang Mutsumi Okazaki Junko Sugama Hiromi Sanada Source Type: research
A multidisciplinary approach to managing lymphorroea in primary lymphoedema: a case study
This report highlights the importance of a multidisciplinary approach to lymphoedema management, including lymphorrhoea control that fitted in with the patient's daily life. It is hoped that this article will contribute to the improvement of the quality of life of patients with lymphoedema.PMID:38335106 | DOI:10.12968/bjon.2024.33.3.104 (Source: British Journal of Nursing)
Source: British Journal of Nursing - February 9, 2024 Category: Nursing Authors: Misako Dai Shuji Yamashita Rui Yang Mutsumi Okazaki Junko Sugama Hiromi Sanada Source Type: research
A multidisciplinary approach to managing lymphorroea in primary lymphoedema: a case study
This report highlights the importance of a multidisciplinary approach to lymphoedema management, including lymphorrhoea control that fitted in with the patient's daily life. It is hoped that this article will contribute to the improvement of the quality of life of patients with lymphoedema.PMID:38335106 | DOI:10.12968/bjon.2024.33.3.104 (Source: British Journal of Nursing)
Source: British Journal of Nursing - February 9, 2024 Category: Nursing Authors: Misako Dai Shuji Yamashita Rui Yang Mutsumi Okazaki Junko Sugama Hiromi Sanada Source Type: research
Ocular Gene Therapy in a Patient with Dystrophic Epidermolysis Bullosa
N Engl J Med. 2024 Feb 8;390(6):530-535. doi: 10.1056/NEJMoa2301244.ABSTRACTDystrophic epidermolysis bullosa is a rare genetic disease caused by damaging variants in COL7A1, which encodes type VII collagen. Blistering and scarring of the ocular surface develop, potentially leading to blindness. Beremagene geperpavec (B-VEC) is a replication-deficient herpes simplex virus type 1-based gene therapy engineered to deliver functional human type VII collagen. Here, we report the case of a patient with cicatrizing conjunctivitis in both eyes caused by dystrophic epidermolysis bullosa who received ophthalmic administration of B-VE...
Source: Herpes - February 7, 2024 Category: Infectious Diseases Authors: Arianna Tovar Vetencourt Ibrahim Sayed-Ahmed Jennifer Gomez Hubert Chen Brittani Agostini Kate Carroll Trevor Parry Suma Krishnan Alfonso L Sabater Source Type: research
Caring for babies born with epidermolysis bullosa
Br J Dermatol. 2024 Feb 2:ljae048. doi: 10.1093/bjd/ljae048. Online ahead of print.NO ABSTRACTPMID:38305490 | DOI:10.1093/bjd/ljae048 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - February 2, 2024 Category: Dermatology Authors: Celia Moss Source Type: research
Modulation of Inflammation By Unrestricted Somatic Stem Cells (USSCs) to Suppress Fibrosis in Mice with Dystrophic Epidermolysis Bullosa
Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited dermal blistering disorder secondary to mutations in Col7a1 gene encoding type VII collagen (C7). Patients with RDEB suffer from life-long dermal blistering, impaired wound healing, mutilating fibrosis, and transformation into cutaneous squamous cell carcinoma. Our previous studies demonstrated that human cord blood derived unrestricted somatic stem cells (USSCs) express C7 and suppress TGF β signaling in a col7a1−/− mouse model of RDEB. (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - February 1, 2024 Category: Hematology Authors: Morgan Anderson-Crannage, Rahim Hirani, Alexander Nystr öm, Edo Schaefer, Bruno Hochberg, Jian Pan, Yanling Liao, Mitchell S. Cairo Tags: 71 Source Type: research
Estimated Spending on Beremagene Geperpavec for Dystrophic Epidermolysis Bullosa
This economic evaluation estimates US spending on beremagene geperpavec for treating dystrophic epidermolysis bullosa under varying assumptions of cost, the eligible patient population, patient age at diagnosis, and life expectancy. (Source: JAMA Dermatology)
Source: JAMA Dermatology - January 31, 2024 Category: Dermatology Source Type: research
Clinical Features of Paediatric Inflammatory Epidermolysis Bullosa Acquisita: A Case Series Study
In conclusion, EBA in childhood may be unique, and thus distinct from its adult counterpart. Specific treatment and follow-up protocols are required for therapy of this rare autoimmune skin disease in children.PMID:38270257 | PMC:PMC10831865 | DOI:10.2340/actadv.v104.11917 (Source: Acta Derm Venereol A...)
Source: Acta Derm Venereol A... - January 25, 2024 Category: Dermatology Authors: Yuexin Zhang Jingyang Dang Ruoyu Li Xixue Chen Xuejun Zhu Mingyue Wang Source Type: research
Clinical Features of Paediatric Inflammatory Epidermolysis Bullosa Acquisita: A Case Series Study
In conclusion, EBA in childhood may be unique, and thus distinct from its adult counterpart. Specific treatment and follow-up protocols are required for therapy of this rare autoimmune skin disease in children.PMID:38270257 | PMC:PMC10831865 | DOI:10.2340/actadv.v104.11917 (Source: Acta Dermato-Venereologica)
Source: Acta Dermato-Venereologica - January 25, 2024 Category: Dermatology Authors: Yuexin Zhang Jingyang Dang Ruoyu Li Xixue Chen Xuejun Zhu Mingyue Wang Source Type: research
