Dystrophic epidermolysis with dilation of esophageal stricture: A case report
Exp Ther Med. 2023 Dec 28;27(2):79. doi: 10.3892/etm.2023.12367. eCollection 2024 Feb.ABSTRACTDystrophic epidermolysis bullosa (DEB) is a rare disease and the associated esophageal stricture is frequently complicated by the lack of clinical experience. The present study reported a very rare case of DEB in a 37-year-old male, who was admitted to Shenzhen Hospital (Shenzhen, China) due to an esophageal stricture. The patient received esophageal dilation under digital subtraction angiography. In this patient, dilation therapy was effective and safe. The patient underwent skin biopsies, and histological examination of the rese...
Source: Experimental and Therapeutic Medicine - January 24, 2024 Category: General Medicine Authors: Mengxi Wu Jun Kuang Jun Yan Dongfang Li Quanwei Guo Xiaojia Zhu Jianhua Zhang Source Type: research
iscorEB-p: A patient-reported outcome measure for Epidermolysis bullosa. Psychometric properties of the Patient Score from the Instrument for Scoring Clinical Outcome of Research for EB
CONCLUSIONS: In conclusion, the iscorEB-p is a reliable and valid instrument to assess the patient-reported view on the health status of EB patients.PMID:38261404 | DOI:10.1093/bjd/ljae019 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - January 23, 2024 Category: Dermatology Authors: Gudrun Salamon Sophie Strobl Ursula Field-Werners Anja Diem Agnes Schwieger-Briel Elena Pope Source Type: research
Accelerated Aging and Microsatellite Instability in Recessive Dystrophic Epidermolysis Bullosa-Associated Cutaneous Squamous Cell Carcinoma
In this study, we utilized an 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 therapeutic options. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - January 23, 2024 Category: Dermatology Authors: Catherine A.A. Lee, Siyuan Wu, Yuen Ting Chow, Eric Kofman, Valencia Williams, Megan Riddle, Cindy Eide, Christen L. Ebens, Markus H. Frank, Jakub Tolar, Kristen P. Hook, Saud H. AlDubayan, Natasha Y. Frank Tags: Original Article Source Type: research
Cancers, Vol. 16, Pages 471: Epidermolysis-Bullosa-Associated Squamous Cell Carcinomas Support an Immunosuppressive Tumor Microenvironment: Prospects for Immunotherapy
on Bubnoff
Cristina Has
Cutaneous squamous cell carcinomas (SCCs) are a major complication of some subtypes of epidermolysis bullosa (EB), with high morbidity and mortality rates and unmet therapeutic needs. The high rate of endogenous mutations and the fibrotic stroma are considered to contribute to the pathogenesis. Patients with dystrophic EB (DEB) and Kindler EB (KEB) have the highest propensity for developing SCCs. Another patient group that develops high-risk SCCs is immunosuppressed (IS) patients, especially after organ transplantation. Herein, we interrogate whether immune checkpoint proteins and immunosuppre...
Source: Cancers - January 22, 2024 Category: Cancer & Oncology Authors: David Rafei-Shamsabadi Lena Scholten Sisi Lu Daniele Castiglia Giovanna Zambruno Andreas Volz Andreas Arnold Mina Saleva Ludovic Martin Kristin Technau-Hafsi Frank Meiss Dagmar von Bubnoff Cristina Has Tags: Article Source Type: research
Prenatal Diagnosis of LAMA 3 Mutation, responsible for Junctional Epidermolysis
(Source: The Journal of Obstetrics and Gynecology of India)
Source: The Journal of Obstetrics and Gynecology of India - January 19, 2024 Category: OBGYN Source Type: research
Gamma-secretase inhibitors down-regulate the pro-fibrotic Notch signaling pathway in recessive dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare skin fragility disorder caused by mutations in COL7A1. RDEB is hallmarked by trauma-induced unremitting blistering, chronic wounds with inflammation and progressive fibrosis, leading to severe disease complications. There is currently no cure for RDEB-associated fibrosis. Our previous studies and increasing evidence highlighted the pro-fibrotic role of Notch pathway in different skin disorders, including RDEB. Here, we further investigated the role of Notch signaling in RDEB pathogenesis and explored the effects of its inhibition by γ-secretase inhibitors DAPT an...
Source: Journal of Investigative Dermatology - January 16, 2024 Category: Dermatology Authors: Angelo Giuseppe Condorelli, Rebecca Nobili, Anita Muglia, Giorgia Scarpelli, Elisa Marzuolo, Cristiano De Stefanis, Rossella Rota, Andrea Diociaiuti, Rita Alaggio, Daniele Castiglia, Teresa Odorisio, May El Hachem, Giovanna Zambruno Tags: Original Article Source Type: research
Gamma-Secretase Inhibitors Downregulate the Profibrotic NOTCH Signaling Pathway in Recessive Dystrophic Epidermolysis Bullosa
In this study, we further investigated the role of NOTCH signaling in RDEB pathogenesis and explored the effects of its inhibition by γ-secretase inhibitors DAPT and PF-03084014 (nirogacestat). (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - January 16, 2024 Category: Dermatology Authors: Angelo Giuseppe Condorelli, Rebecca Nobili, Anita Muglia, Giorgia Scarpelli, Elisa Marzuolo, Cristiano De Stefanis, Rossella Rota, Andrea Diociaiuti, Rita Alaggio, Daniele Castiglia, Teresa Odorisio, May El Hachem, Giovanna Zambruno Tags: Original Article Source Type: research
Biology of Pellino1: a potential therapeutic target for inflammation in diseases and cancers
Front Immunol. 2023 Dec 18;14:1292022. doi: 10.3389/fimmu.2023.1292022. eCollection 2023.ABSTRACTPellino1 (Peli1) is a highly conserved E3 Ub ligase that exerts its biological functions by mediating target protein ubiquitination. Extensive evidence has demonstrated the crucial role of Peli1 in regulating inflammation by modulating various receptor signaling pathways, including interleukin-1 receptors, Toll-like receptors, nuclear factor-κB, mitogen-activated protein kinase, and phosphoinositide 3-kinase/AKT pathways. Peli1 has been implicated in the development of several diseases by influencing inflammation, apoptosis, n...
Source: Herpes - January 5, 2024 Category: Infectious Diseases Authors: Lili Yan Yueran Cui Juan Feng Source Type: research
Biology of Pellino1: a potential therapeutic target for inflammation in diseases and cancers
Front Immunol. 2023 Dec 18;14:1292022. doi: 10.3389/fimmu.2023.1292022. eCollection 2023.ABSTRACTPellino1 (Peli1) is a highly conserved E3 Ub ligase that exerts its biological functions by mediating target protein ubiquitination. Extensive evidence has demonstrated the crucial role of Peli1 in regulating inflammation by modulating various receptor signaling pathways, including interleukin-1 receptors, Toll-like receptors, nuclear factor-κB, mitogen-activated protein kinase, and phosphoinositide 3-kinase/AKT pathways. Peli1 has been implicated in the development of several diseases by influencing inflammation, apoptosis, n...
Source: Herpes - January 5, 2024 Category: Infectious Diseases Authors: Lili Yan Yueran Cui Juan Feng Source Type: research
Biology of Pellino1: a potential therapeutic target for inflammation in diseases and cancers
Front Immunol. 2023 Dec 18;14:1292022. doi: 10.3389/fimmu.2023.1292022. eCollection 2023.ABSTRACTPellino1 (Peli1) is a highly conserved E3 Ub ligase that exerts its biological functions by mediating target protein ubiquitination. Extensive evidence has demonstrated the crucial role of Peli1 in regulating inflammation by modulating various receptor signaling pathways, including interleukin-1 receptors, Toll-like receptors, nuclear factor-κB, mitogen-activated protein kinase, and phosphoinositide 3-kinase/AKT pathways. Peli1 has been implicated in the development of several diseases by influencing inflammation, apoptosis, n...
Source: Herpes - January 5, 2024 Category: Infectious Diseases Authors: Lili Yan Yueran Cui Juan Feng Source Type: research
Neonatal Epidermolysis Bullosa: a clinical practice guideline
Br J Dermatol. 2024 Jan 4:ljae006. doi: 10.1093/bjd/ljae006. Online ahead of print.ABSTRACTDEBRA International (DI) is undertaking a long-term initiative to develop Clinical Practice Guidelines (CPGs) for Epidermolysis Bullosa (EB), to improve the clinical care of people living with EB. Current neonatal care is based on evidence, clinical expertise and trial and error with collaboration between the EB specialist team, parent/carer and patient, and is dependent on the neonate's individual presentation and type of EB. Early intervention based on research and clinical practice, is needed to establish a foundation of knowledge...
Source: The British Journal of Dermatology - January 4, 2024 Category: Dermatology Authors: Rebecca Saad Jos é Duipmans Natalie Yerlett Katie Plevey Catherine McCuaig William Woolfe K Steinau Jennifer Phillips Nina Azarpardi Kerry Thompson Anna Catolina Ferreira da Rocha Maurico Torres-Pradilla Hagen Ott Declan Paton Zena Moore Paul Murphy Katt Source Type: research
Neonatal Epidermolysis Bullosa: a clinical practice guideline
Br J Dermatol. 2024 Jan 4:ljae006. doi: 10.1093/bjd/ljae006. Online ahead of print.ABSTRACTDEBRA International (DI) is undertaking a long-term initiative to develop Clinical Practice Guidelines (CPGs) for Epidermolysis Bullosa (EB), to improve the clinical care of people living with EB. Current neonatal care is based on evidence, clinical expertise and trial and error with collaboration between the EB specialist team, parent/carer and patient, and is dependent on the neonate's individual presentation and type of EB. Early intervention based on research and clinical practice, is needed to establish a foundation of knowledge...
Source: The British Journal of Dermatology - January 4, 2024 Category: Dermatology Authors: Rebecca Saad Jos é Duipmans Natalie Yerlett Katie Plevey Catherine McCuaig William Woolfe K Steinau Jennifer Phillips Nina Azarpardi Kerry Thompson Anna Catolina Ferreira da Rocha Maurico Torres-Pradilla Hagen Ott Declan Paton Zena Moore Paul Murphy Katt Source Type: research
GSE223675 Clinical-grade human skin-derived ABCB5+ mesenchymal stromal cells exert modulatory functions on mRNA expression in a cisplatin-induced kidney injury murine model
Contributors : Daniele Christina ; Gretz NobertSeries Type : Expression profiling by high throughput sequencingOrganism : Rattus norvegicusAcute kidney injury (AKI) is characterized by a rapid reduction in renal function and glomerular filtration rate (GFR). The broadly used anti-cancer chemotherapeutic agent cisplatin often induces AKI as an adverse drug side effect. Therapies targeted at the reversal of AKI and its potential progression to chronic kidney disease or end-stage renal disease are currently insufficiently effective. Mesenchymal stromal cells (MSC) possess diverse immunomodulatory properties that confer upon...
Source: GEO: Gene Expression Omnibus - January 4, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Rattus norvegicus Source Type: research
Oleogel-S10 in Dystrophic Epidermolysis Bullosa: A Case Series Evaluating the Impact on Wound Burden Over Two Years
This study supports the effectiveness of Oleogel-S10 in a real-world scenario in a country with scarce resources for the treatment of EB.PMID:38170434 | DOI:10.1007/s12325-023-02749-x (Source: Adv Data)
Source: Adv Data - January 3, 2024 Category: Epidemiology Authors: Mauricio Torres Pradilla Erick Álvarez M ónica Novoa Ivonne Lozano Maribel Trujillo Source Type: research
Oleogel-S10 in Dystrophic Epidermolysis Bullosa: A Case Series Evaluating the Impact on Wound Burden Over Two Years
This study supports the effectiveness of Oleogel-S10 in a real-world scenario in a country with scarce resources for the treatment of EB.PMID:38170434 | DOI:10.1007/s12325-023-02749-x (Source: Adv Data)
Source: Adv Data - January 3, 2024 Category: Epidemiology Authors: Mauricio Torres Pradilla Erick Álvarez M ónica Novoa Ivonne Lozano Maribel Trujillo Source Type: research
