JID innovations : skin science from molecules to population health最新文献_第3页

Advances in Pemphigus and Pemphigoid: A Report of the International Meeting of the Pemphigus and Pemphigoid Foundation in Thessaloniki, Greece

JID innovations : skin science from molecules to population health Pub Date : 2024-12-11 DOI: 10.1016/j.xjidi.2024.100339

Meropi Karakioulaki , Patrick Dunn , Dedee F. Murrell , Aimee Payne , Enno Schmidt , Victoria Werth , Marc Yale , Jun Yamagami , Valeria Aoki , Luca Borradori , Frédéric Caux , Donna Culton , Maryam Daneshpazhooh , Dipankar De , Janet Fairley , Christoph Hammers , Michael Hertl , Maike Holtsche , Pascal Joly , Hiroshi Koga , Aikaterini Patsatsi

引用次数: 0

Capture of Patient Itch Scores in Practice Reveals Disparate Itch Impact on the Basis of Age, Gender, and Race: A Cross-Sectional Survey Analysis

JID innovations : skin science from molecules to population health Pub Date : 2024-12-11 DOI: 10.1016/j.xjidi.2024.100338

Yin Li , Robert A. Swerlick

{"title":"Capture of Patient Itch Scores in Practice Reveals Disparate Itch Impact on the Basis of Age, Gender, and Race: A Cross-Sectional Survey Analysis","authors":"Yin Li , Robert A. Swerlick","doi":"10.1016/j.xjidi.2024.100338","DOIUrl":"10.1016/j.xjidi.2024.100338","url":null,"abstract":"<div><h3>Background</h3><div>Skin symptom burden, varying with patient populations, may not be readily observed by clinicians, resulting in incomplete appreciation of total skin disease burden.</div></div><div><h3>Objective</h3><div>The purpose of this study was to define patient itch burdens and associated health-related QOL affecting different patient demographics and to identify potential population health disparities.</div></div><div><h3>Methods</h3><div>This is a cross-sectional, secondary data analysis of data captured using an automated routine electronic previsit survey completed by patients who visited Emory Healthcare Dermatology clinic between March 2021 and October 2022 (6532 patient visits). Descriptive statistics and ordered logit regression analyses were used to examine the prevalence and intensity of itch and the impacts of itch on QOL.</div></div><div><h3>Results</h3><div>Overall itch burden increases as age increases; females and African Americans experienced more itch burden than males and other racial groups. Itch places significant symptom, emotional, and functional burdens on patients’ QOL, impacts that are independent of patients’ demographics.</div></div><div><h3>Limitations</h3><div>The data collected were from a single dermatology practice and may not be reflective of other practices or populations.</div></div><div><h3>Conclusion</h3><div>Dermatology previsit surveys are feasible in examining the significant pruritus burden, especially for older individuals, females, and African Americans with chronic skin conditions.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 2","pages":"Article 100338"},"PeriodicalIF":0.0,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11773235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Development and Evaluation of the Dermatomyositis Outcomes for Muscle and Skin as an Outcome Measure in Dermatomyositis Clinical Trials

JID innovations : skin science from molecules to population health Pub Date : 2024-12-09 DOI: 10.1016/j.xjidi.2024.100337

Rachita Pandya , Joshua Dan , Julianne Kleitsch , Darosa Lim , Barbara White , Victoria P. Werth

{"title":"Development and Evaluation of the Dermatomyositis Outcomes for Muscle and Skin as an Outcome Measure in Dermatomyositis Clinical Trials","authors":"Rachita Pandya , Joshua Dan , Julianne Kleitsch , Darosa Lim , Barbara White , Victoria P. Werth","doi":"10.1016/j.xjidi.2024.100337","DOIUrl":"10.1016/j.xjidi.2024.100337","url":null,"abstract":"<div><div>The Total Improvement Score (TIS), which is used as the primary efficacy measure in dermatomyositis (DM) clinical trials, lacks a skin-specific measure. However, skin is a defining feature of DM. In this study, data were analyzed from the phase 3 trial of lenabasum in DM. Cutaneous Dermatomyositis Disease Area and Severity Index-Activity scores and all components of the TIS were collected at baseline and weeks 16, 28, 40, and 52. From these assessments, a composite outcome was developed, named Dermatomyositis Outcomes for Muscle and Skin, which includes certain components of the TIS and the Cutaneous Dermatomyositis Disease Area and Severity Index-Activity scores. The relative sensitivities of the TIS and Dermatomyositis Outcomes for Muscle and Skin to detect improvement in DM skin and muscle disease activity were analyzed. A total of 174 patients with DM were included, 82% were female, and 75% were White. Mean (SD) age was 51.9 (12.20) years. Treatment effect using the TIS ranged between 17.6 and 21.7 points for muscle and skin responders versus nonresponders across time points. The Dermatomyositis Outcomes for Muscle and Skin score displayed a statistically significantly greater treatment effect of 25.9–40.0 points for responders than for nonresponders, depending on the response assessed and the time point. Dermatomyositis Outcomes for Muscle and Skin is a more sensitive composite measure that reflects improvement from baseline in both skin and muscle disease activity, suggesting usefulness for use in future DM clinical trials.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 2","pages":"Article 100337"},"PeriodicalIF":0.0,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11773231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploring Interaction between Genetically Predicted Body Mass Index and Serum 25-Hydroxyvitamin D Levels on the Odds for Psoriasis in UK Biobank and the HUNT Study: A Factorial Mendelian Randomization Study

JID innovations : skin science from molecules to population health Pub Date : 2024-12-04 DOI: 10.1016/j.xjidi.2024.100336

Marita Jenssen , Nikhil Arora , Mari Løset , Bjørn Olav Åsvold , Laurent Thomas , Ole-Jørgen Bekkevold Vassmyr , Xiao-Mei Mai , Yi-Qian Sun , Anne-Sofie Furberg , Rolf Jorde , Tom Wilsgaard , Kjersti Danielsen , Ben Michael Brumpton

{"title":"Exploring Interaction between Genetically Predicted Body Mass Index and Serum 25-Hydroxyvitamin D Levels on the Odds for Psoriasis in UK Biobank and the HUNT Study: A Factorial Mendelian Randomization Study","authors":"Marita Jenssen , Nikhil Arora , Mari Løset , Bjørn Olav Åsvold , Laurent Thomas , Ole-Jørgen Bekkevold Vassmyr , Xiao-Mei Mai , Yi-Qian Sun , Anne-Sofie Furberg , Rolf Jorde , Tom Wilsgaard , Kjersti Danielsen , Ben Michael Brumpton","doi":"10.1016/j.xjidi.2024.100336","DOIUrl":"10.1016/j.xjidi.2024.100336","url":null,"abstract":"<div><div>Mendelian randomization (MR) studies show that higher body mass index (BMI) and lower 25-hydroxyvitamin D (25[OH]D) increase psoriasis risk. The combined effect of these factors has not been explored using factorial MR. Using cross-sectional data from UK Biobank (n = 398,404) and The Trøndelag Health Study (n = 86,648), we calculated polygenic risk scores for BMI and 25(OH)D to estimate ORs for psoriasis using 2 × 2 and continuous factorial MR. We quantified additive interaction by estimating relative excess risk due to interaction. We also performed traditional observational analyses in UK Biobank. There were 12,207 (3.1%) participants with psoriasis in UK Biobank and 7794 (9.0%) in The Trøndelag Health Study. In 2 × 2 factorial MR, we found no evidence of relative excess risk for psoriasis due to interaction between genetically predicted higher BMI and lower 25(OH)D, neither in UK Biobank (relative excess risk due to interaction = −0.01, 95% confidence interval = −0.08 to 0.07) nor in The Trøndelag Health Study (relative excess risk due to interaction = −0.04, 95% confidence interval = −0.14 to 0.06). The same was observed in the continuous factorial MR and observational analyses. In conclusion, this study did not find evidence of interaction between BMI and 25(OH)D on the risk of psoriasis. Given minor differences in measured BMI and 25(OH)D between the factorial groups, small effects may have been undetected.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 2","pages":"Article 100336"},"PeriodicalIF":0.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143150993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Use of Midodrine for Intraoperative Hemostasis in Cutaneous and Percutaneous Surgery

JID innovations : skin science from molecules to population health Pub Date : 2024-12-03 DOI: 10.1016/j.xjidi.2024.100335

Joanna Dong , Naiem T. Issa , Michael Kaiser , Simonetta I. Gaumond , Michael Solis , Joel Gil , Robert S. Kirsner , Stephen C. Davis , Joaquin J. Jimenez

{"title":"Use of Midodrine for Intraoperative Hemostasis in Cutaneous and Percutaneous Surgery","authors":"Joanna Dong , Naiem T. Issa , Michael Kaiser , Simonetta I. Gaumond , Michael Solis , Joel Gil , Robert S. Kirsner , Stephen C. Davis , Joaquin J. Jimenez","doi":"10.1016/j.xjidi.2024.100335","DOIUrl":"10.1016/j.xjidi.2024.100335","url":null,"abstract":"<div><div>Owing to the increasingly high volume of cutaneous and percutaneous procedures performed annually, the demand for local anesthesia has steadily risen. The gold-standard formulations for local anesthesia contain epinephrine at a concentration of 1:100,000 added to lidocaine to aid in hemostasis. Epinephrine, an α-agonist, also exhibits off-target β-adrenergic effects that carry risk of adverse events with these injections. Furthermore, the ongoing global shortage of epinephrine highlights the need for a safer and viable alternative. Midodrine, a targeted a<sub>1</sub>-adrenergic receptor agonist, is utilized as a vasopressor to induce arterial and venous vasoconstriction. We developed a formulation of 2% lidocaine combined with 1:2,000,000 epinephrine and 50 μM midodrine (midodrine/lidocaine/epinephrine formulation), hypothesizing that this combination would exhibit synergism on hemostasis. In a porcine model of blood loss after punch biopsies, our formulation was compared with 2% lidocaine; 2% lidocaine with 1:100,000 epinephrine; 2% lidocaine with 1:2,000,000 epinephrine; and 2% lidocaine with 50 μM midodrine. Our results indicate that 2% lidocaine with 1:100,000 epinephrine and our midodrine/lidocaine/epinephrine formulation were statistically comparable, with both significantly reducing bleeding when compared with the 2% lidocaine (<em>P</em> < .05). The 2% lidocaine with midodrine alone also showed additional promise as an effective hemostatic formulation. Thus, combination of low-concentration epinephrine and midodrine with lidocaine may exhibit synergistic hemostatic effect in cutaneous surgical settings while reducing potential off-target effects of either vasoconstrictor alone at higher concentrations as adjunct monotherapies.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 2","pages":"Article 100335"},"PeriodicalIF":0.0,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143150992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Transcriptomic Analysis Identifies Disease Severity and Therapeutic Response in Psoriasis 转录组学分析确定银屑病的疾病严重程度和治疗反应。

JID innovations : skin science from molecules to population health Pub Date : 2024-11-29 DOI: 10.1016/j.xjidi.2024.100333

Sneha Shrotri , Andrea Daamen , Kathryn Kingsmore , Prathyusha Bachali , Amrie Grammer , Peter Lipsky

{"title":"Transcriptomic Analysis Identifies Disease Severity and Therapeutic Response in Psoriasis","authors":"Sneha Shrotri , Andrea Daamen , Kathryn Kingsmore , Prathyusha Bachali , Amrie Grammer , Peter Lipsky","doi":"10.1016/j.xjidi.2024.100333","DOIUrl":"10.1016/j.xjidi.2024.100333","url":null,"abstract":"<div><div>Abnormalities in gene expression profiles characterize patients with inflammatory skin diseases, including psoriasis, and changes may reflect the action of specific therapeutic agents. To examine this, gene expression analysis of psoriatic skin was assessed by Gene Set Variation Analysis using informative gene modules, and longitudinal data were analyzed to assess the impact of various treatments. Ridge penalized logistic regression was employed to derive a transcriptomic score. Psoriatic lesional skin exhibited perturbations in gene expression profiles at baseline, with enrichment of signatures for neutrophils, keratinocytes, IFN, IL-12 complex, IL-1 cytokines, TNF, and T helper 17. Treatment with a variety of agents reduced lesional gene expression abnormalities to those in nonlesional skin. Specific gene expression abnormalities at baseline identified clinical responders to each treatment. Changes in gene expression over time were less pronounced in nonlesional skin and lesional skin in clinical nonresponders. The combined transcriptomic scores showed significant positive correlations with PASI scores in clinical responders over time. Overall, gene expression abnormalities characterize the severity of psoriatic skin lesions, can be used to predict responsiveness to individual treatments, and revert toward those of nonlesional skin with effective therapy. Therefore, gene expression analysis can be useful to support management of patients with psoriasis.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 2","pages":"Article 100333"},"PeriodicalIF":0.0,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Impact of Air Pollution on Disease Activity in Bullous Pemphigoid and Pemphigus

JID innovations : skin science from molecules to population health Pub Date : 2024-11-29 DOI: 10.1016/j.xjidi.2024.100334

Ron Feldman , Emily F. Cole

{"title":"The Impact of Air Pollution on Disease Activity in Bullous Pemphigoid and Pemphigus","authors":"Ron Feldman , Emily F. Cole","doi":"10.1016/j.xjidi.2024.100334","DOIUrl":"10.1016/j.xjidi.2024.100334","url":null,"abstract":"<div><div>With a growing awareness of climate change, air pollution has emerged as an important contributor to the development and exacerbation of inflammatory skin conditions. However, the effect of air pollution on immunobullous disease activity is unknown. In this study, we performed a retrospective cohort study of 115 patients with bullous pemphigoid and 152 patients with pemphigus from a university-based specialty clinic in the Southeastern United States. We compared standardized disease activity measures with inhalable particulate matter (particulate matter ≤2.5, particulate matter ≤10), ozone, atmospheric pollutants (sulphur dioxide, carbon monoxide, nitrogen dioxide), and air quality index. Results demonstrated small but statistically significant associations between Bullous Pemphigoid Disease Area Index total activity score and several variables (particulate matter ≤2.5, sulphur dioxide, and air quality index). In addition, there were small but significant negative correlations between ozone and bullous pemphigoid disease area index pruritus score as well as carbon monoxide and pemphigus disease area index score. This study suggests that air pollution may impact disease activity in bullous pemphigoid to a greater extent than pemphigus. Future studies should be aimed at identifying potential mechanisms for this association.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 3","pages":"Article 100334"},"PeriodicalIF":0.0,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11786822/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Wound Healing Splinting Devices for Faster Access and Use

JID innovations : skin science from molecules to population health Pub Date : 2024-11-28 DOI: 10.1016/j.xjidi.2024.100332

Andrew W. Miller , Alexa R. Anderson , Alejandra Suarez-Arnedo , Tatiana Segura

{"title":"Wound Healing Splinting Devices for Faster Access and Use","authors":"Andrew W. Miller , Alexa R. Anderson , Alejandra Suarez-Arnedo , Tatiana Segura","doi":"10.1016/j.xjidi.2024.100332","DOIUrl":"10.1016/j.xjidi.2024.100332","url":null,"abstract":"<div><div>With the goal of studying skin wound healing and testing new drug treatments to enhance wound healing in rodent models, there is a clear need for improved splinting techniques to increase surgical efficiency and support routine wound monitoring. Splinted wound healing models humanize wound healing in rodents to prevent contraction and instead heal through granulation tissue deposition, increasing the relevance to human wound healing. Current technologies require suturing and heavy wrapping, leading to splint failure and cumbersome monitoring of the wound. In this study, we developed a splint with resealable cap system that provides ease of access for wound inspection, therapeutic treatment delivery, and routine wound imaging without the need to unwrap and wrap the animal. Meanwhile, to overcome the challenges associated with suturing, we also developed adherent splints that can be applied to both hairless or haired mice with minimal wrapping. Both technologies are expected to improve and encourage the adoption of splinted wound healing models.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 2","pages":"Article 100332"},"PeriodicalIF":0.0,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11780244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Reconstructed Epidermis Produced with Atopic Dog Keratinocytes Only Exhibit Skin Barrier Defects after the Addition of Proinflammatory and Allergic Cytokines 添加促炎和过敏性细胞因子后，特应性狗角质形成细胞重建表皮仅表现出皮肤屏障缺陷。

JID innovations : skin science from molecules to population health Pub Date : 2024-11-26 DOI: 10.1016/j.xjidi.2024.100330

Daniel Combarros , Rahma Brahmi , Emma Musaefendic , Alizée Heit , Jevgenija Kondratjeva , Fabien Moog , Charline Pressanti , Line A. Lecru , Sabine Arbouille , Catherine Laffort , Dominique Goudounèche , Jessie Brun , Michel Simon , Marie-Christine Cadiergues

{"title":"Reconstructed Epidermis Produced with Atopic Dog Keratinocytes Only Exhibit Skin Barrier Defects after the Addition of Proinflammatory and Allergic Cytokines","authors":"Daniel Combarros , Rahma Brahmi , Emma Musaefendic , Alizée Heit , Jevgenija Kondratjeva , Fabien Moog , Charline Pressanti , Line A. Lecru , Sabine Arbouille , Catherine Laffort , Dominique Goudounèche , Jessie Brun , Michel Simon , Marie-Christine Cadiergues","doi":"10.1016/j.xjidi.2024.100330","DOIUrl":"10.1016/j.xjidi.2024.100330","url":null,"abstract":"<div><div>Our objectives were to explore epidermal barrier defects in dogs with atopic dermatitis and to determine whether the defects are genetically determined or secondary to skin inflammation. First, the expression of filaggrin, corneodesmosin, and claudin1, analyzed using indirect immunofluorescence in skin biopsies collected from 32 healthy and 32 dogs with atopic dermatitis, was weaker in the atopic skin (<em>P =</em> .003). Second, primary keratinocytes of atopic dogs and healthy dogs were used to produce 3-dimensional reconstructed canine epidermis. The expression of the same proteins was analyzed using indirect immunofluorescence, immunoblotting, and RT-qPCR, whereas reconstructed canine epidermis morphology was investigated by transmission electron microscopy, and the barrier was investigated by functional assays. Next, inflammatory cytokines (IL-4, IL-13, IL-31, and TNFα) were added to the culture medium. The morphology, protein expression, and barrier function of the reconstructed canine epidermis were similar whether produced with keratinocytes from healthy dogs or dogs with atopy. Addition of inflammatory cytokines impaired the protein expression and epidermal barrier of the 2 types of reconstructed canine epidermis equally. To conclude, the reduced expression of epidermal barrier proteins observed in vivo was not reproduced in vitro unless cytokines were used, suggesting that it is induced by the inflammatory milieu.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 2","pages":"Article 100330"},"PeriodicalIF":0.0,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Weekly Intraperitoneal Injection of Tamoxifen in an Inducible In Vivo Model of Junctional Epidermolysis Bullosa Generates Early and Advanced Disease Phenotypes 在可诱导的大疱性结缔性表皮松解症体内模型中，每周腹腔注射他莫昔芬可产生早期和晚期疾病表型。

JID innovations : skin science from molecules to population health Pub Date : 2024-11-22 DOI: 10.1016/j.xjidi.2024.100331

Eleri Mai Jones , Priya Garcha , Monique Aumailley , Edel Anne O’Toole , Emanuel Rognoni , Matthew Caley

{"title":"Weekly Intraperitoneal Injection of Tamoxifen in an Inducible In Vivo Model of Junctional Epidermolysis Bullosa Generates Early and Advanced Disease Phenotypes","authors":"Eleri Mai Jones , Priya Garcha , Monique Aumailley , Edel Anne O’Toole , Emanuel Rognoni , Matthew Caley","doi":"10.1016/j.xjidi.2024.100331","DOIUrl":"10.1016/j.xjidi.2024.100331","url":null,"abstract":"<div><div>Junctional epidermolysis bullosa caused by loss-of-function variants in genes encoding the skin basement membrane proteins laminin 332, type XVII collagen, or integrin α6β4 affects patients from birth with severe blistering, eventually leading to scarring and early lethality. In this study, we have optimized a previously published junctional epidermolysis bullosa–knockout mouse model with weekly tamoxifen intraperitoneal injections, resulting in a more controllable and severe model. Owing to the titratable dosing, this model now recapitulates both early and advanced stages of the human disease, strengthening its use in therapeutic studies. The gradual loss of laminin-α3 in the skin of the mouse through weekly injections lead to generalized blistering and fibrotic dermal changes in multiple skin sites by week 12 after tamoxifen. Our findings demonstrate the usefulness of optimizing tamoxifen induction in Cre-loxP mouse models of extracellular matrix proteins, an approach that could be applicable to other emerging inducible transgenic disease models to improve their ability to mimic the human disease phenotype.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 2","pages":"Article 100331"},"PeriodicalIF":0.0,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0