Totally endoscopic concomitant aortic and mitral valve surgery in junctional epidermolysis bullosa: a case report
Junctional epidermolysis bullosa is a rare skin and mucosal disorder characterized by blister formation in response to minor trauma and extracutaneous manifestations. There have been no reports of cardiac surg... (Source: Journal of Cardiothoracic Surgery)
Source: Journal of Cardiothoracic Surgery - February 20, 2024 Category: Cardiovascular & Thoracic Surgery Authors: Kazufumi Yoshida, Soshi Yoshida, Yoshimasa Hori, Hideki Tsubota, Ryosuke Mochizuki, Tohru Nagano and Tadaaki Koyama Tags: Case Report Source Type: research

Recent and anticipated novel drug approvals for 2024
CONCLUSION: More oncology agents, including gene therapies, oral agents, and monoclonal antibodies, are in the pipeline this year. Additional diseases targeted by new novel drugs, including cellular and gene therapies, are hemophilia, nonalcoholic steatohepatitis, Alzheimer's disease, and rare diseases such as galactosemia and epidermolysis bullosa.PMID:38373160 | DOI:10.1093/ajhp/zxae046 (Source: American Journal of Health-System Pharmacy : AJHP)
Source: American Journal of Health-System Pharmacy : AJHP - February 19, 2024 Category: Drugs & Pharmacology Authors: Matthew H Rim Brittany L Karas Farah Barada Andrew M Levitsky Source Type: research

Recent and anticipated novel drug approvals for 2024
CONCLUSION: More oncology agents, including gene therapies, oral agents, and monoclonal antibodies, are in the pipeline this year. Additional diseases targeted by new novel drugs, including cellular and gene therapies, are hemophilia, nonalcoholic steatohepatitis, Alzheimer's disease, and rare diseases such as galactosemia and epidermolysis bullosa.PMID:38373160 | DOI:10.1093/ajhp/zxae046 (Source: American Journal of Health-System Pharmacy : AJHP)
Source: American Journal of Health-System Pharmacy : AJHP - February 19, 2024 Category: Drugs & Pharmacology Authors: Matthew H Rim Brittany L Karas Farah Barada Andrew M Levitsky Source Type: research

Intravenous gentamicin therapy induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients: An open label clinical trial
CONCLUSIONS: IV gentamicin induced readthrough of nonsense mutations in RDEB patients and restored functional C7 in their skin, enhanced wound healing, and improved clinical parameters. IV gentamicin may be a safe, efficacious, low cost, and readily available therapy in this population of RDEB patients.TRIAL REGISTRATION: Clinicaltrials.gov Identifiers: NCT03392909.PMID:38366625 | DOI:10.1093/bjd/ljae063 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - February 17, 2024 Category: Dermatology Authors: David T Woodley Michelle Hao Andrew Kwong Brandon Levian Jon Cogan Yingping Hou Daniel Mosallaei Elana Kleinman Kate Zheng Claire Chung Gene Kim David Peng Mei Chen Source Type: research

Intravenous gentamicin therapy induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients: An open label clinical trial
CONCLUSIONS: IV gentamicin induced readthrough of nonsense mutations in RDEB patients and restored functional C7 in their skin, enhanced wound healing, and improved clinical parameters. IV gentamicin may be a safe, efficacious, low cost, and readily available therapy in this population of RDEB patients.TRIAL REGISTRATION: Clinicaltrials.gov Identifiers: NCT03392909.PMID:38366625 | DOI:10.1093/bjd/ljae063 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - February 17, 2024 Category: Dermatology Authors: David T Woodley Michelle Hao Andrew Kwong Brandon Levian Jon Cogan Yingping Hou Daniel Mosallaei Elana Kleinman Kate Zheng Claire Chung Gene Kim David Peng Mei Chen Source Type: research

Intravenous gentamicin therapy induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients: An open label clinical trial
CONCLUSIONS: IV gentamicin induced readthrough of nonsense mutations in RDEB patients and restored functional C7 in their skin, enhanced wound healing, and improved clinical parameters. IV gentamicin may be a safe, efficacious, low cost, and readily available therapy in this population of RDEB patients.TRIAL REGISTRATION: Clinicaltrials.gov Identifiers: NCT03392909.PMID:38366625 | DOI:10.1093/bjd/ljae063 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - February 17, 2024 Category: Dermatology Authors: David T Woodley Michelle Hao Andrew Kwong Brandon Levian Jon Cogan Yingping Hou Daniel Mosallaei Elana Kleinman Kate Zheng Claire Chung Gene Kim David Peng Mei Chen Source Type: research

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