FUENTES BUSTOS, MARIA IGNACIA

Preferred name
FUENTES BUSTOS, MARIA IGNACIA
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Email
mifuentes@udd.cl
ORCID
0000-0002-7382-1956
Scopus Author ID
57193308856

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    Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa
    (2020)
    C. Has
    ;
    L. Liu
    ;
    M.C. Bolling
    ;
    A.V. Charlesworth
    ;
    M. El Hachem
      1Scopus© Citations 124
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      2Scopus© Citations 18
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      1Scopus© Citations 18
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    Patients suffering from dystrophic epidermolysis bullosa are prone to developing autoantibodies against skin proteins: A longitudinal confirmational study
    (2024)
    J. Bremer
    ;
    H. H. Pas
    ;
    G. F. H. Diercks
    ;
    H. J. Meijer
    ;
    S. M. van der Molen
    <jats:title>Abstract</jats:title><jats:p>Epidermolysis bullosa (EB) is a heritable skin blistering disease caused by variants in genes coding for proteins that secure cell–cell adhesion and attachment of the epidermis to the dermis. Interestingly, several proteins involved in inherited EB are also associated with autoimmune blistering diseases (AIBD). In this study, we present a long‐term follow‐up of 15 patients suffering from recessive dystrophic or junctional EB. From these patients, 62 sera were analysed for the presence of autoantibodies associated with AIBD. We show that patients suffering from recessive dystrophic EB (RDEB) are more susceptible to developing autoantibodies against skin proteins than patients suffering from junctional EB (70% vs. 20%, respectively). Interestingly, no correlation with age was observed. Most patients showed reactivity to Type XVII collagen/linear IgA bullous dermatosis autoantigen (<jats:italic>n</jats:italic> = 5; 33%), followed by BP230 (<jats:italic>n</jats:italic> = 4; 27%), Type VII collagen (<jats:italic>n</jats:italic> = 4; 27%) and laminin‐332 (<jats:italic>n</jats:italic> = 1; 7%). The pathogenicity of these autoantibodies remains a subject for future experiments.</jats:p>
      1Scopus© Citations 3
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    Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa
    (2020)
    FUENTES BUSTOS, MARIA IGNACIA  
    ;
    Christina Guttmann-Gruber
    ;
    Birgit Tockner
    ;
    Anja Diem
    ;
    Alfred Klausegger
    <jats:title>Abstract</jats:title><jats:p>Impaired wound healing complicates a wide range of diseases and represents a major cost to healthcare systems. Here we describe the use of discarded wound dressings as a novel, cost effective, accessible, and non-invasive method of isolating viable human cells present at the site of skin wounds. By analyzing 133 discarded wound dressings from 51 patients with the inherited skin-blistering disease epidermolysis bullosa (EB), we show that large numbers of cells, often in excess of 100 million per day, continually infiltrate wound dressings. We show, that the method is able to differentiate chronic from acute wounds, identifying significant increases in granulocytes in chronic wounds, and we show that patients with the junctional form of EB have significantly more cells infiltrating their wounds compared with patients with recessive dystrophic EB. Finally, we identify subsets of granulocytes and T lymphocytes present in all wounds paving the way for single cell profiling of innate and adaptive immune cells with relevance to wound pathologies. In summary, our study delineates findings in EB that have potential relevance for all chronic wounds, and presents a method of cellular isolation that has wide reaching clinical application.</jats:p>
      22Scopus© Citations 25
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    Characterization of the epidermal-dermal junction in hiPSC-derived skin organoids
    (2022)
    Veronika Ramovs
    ;
    Hans Janssen
    ;
    FUENTES BUSTOS, MARIA IGNACIA  
    ;
    Amandine Pitaval
    ;
    Walid Rachidi
      26Scopus© Citations 46
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    Pregabalin for Neuropathic Pain and Itch in Recessive Dystrophic Epidermolysis Bullosa
    (American Medical Association (AMA), 2024-12-01)
    Margarita Calvo
    ;
    Macarena Tejos-Bravo
    ;
    Alvaro Passi-Solar
    ;
    Fernanda Espinoza
    ;
    FUENTES BUSTOS, MARIA IGNACIA  
    <jats:sec><jats:title>Importance</jats:title><jats:p>Patients with recessive dystrophic epidermolysis bullosa (RDEB) experience neuropathic pain and itch. There is a lack of evidence on any treatment for these symptoms in patients with RDEB.</jats:p></jats:sec><jats:sec><jats:title>Objectives</jats:title><jats:p>To test the efficacy of pregabalin in the treatment of neuropathic pain and itch in patients with RDEB.</jats:p></jats:sec><jats:sec><jats:title>Design, Setting, and Participants</jats:title><jats:p>A randomized, double-blinded, crossover trial of oral pregabalin (50-300 mg/d) vs placebo was conducted at 2 sites, Toronto (Canada) and Santiago (Chile) from January 1, 2019, to December 31, 2020. Patients eligible to participate were diagnosed with RDEB, aged 8 to 40 years, not pregnant or lactating (if female), and had evidence of probable neuropathic pain and itching defined as distal thermal sensory loss (confirmed by thermal roller), score of 4 or greater on the <jats:italic>Douleur Neuropathique</jats:italic> 4 questionnaire (DN4), and score greater than 4 on the 10-point visual analog scale [VAS]). Patients with a clinically important or poorly controlled medical or psychiatric condition or pregabalin intolerance or allergy were excluded. Of 41 patients screened, 3 were not eligible and 28 declined enrollment. Data analyses were performed in 2021 through 2023.</jats:p></jats:sec><jats:sec><jats:title>Intervention</jats:title><jats:p>Participants received both pregabalin and matched placebo (titrated to a maximum-tolerated dose of 300 mg/day) in a randomized sequence so that comparisons could be made within participants and between groups.</jats:p></jats:sec><jats:sec><jats:title>Main Outcomes and Measures</jats:title><jats:p>Difference in the mean pain and itch scores between pregabalin and placebo treatment (measured using VAS) before and after intervention.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>In all, 10 participants were randomized to 2 groups, 6 patients (mean [SD] age, 26.7 [8.1] years; 3 females [50%]) in group 1, and 4 patients (mean [SD] age, 26.5 [7.8] years, 2 females [50%]) in group 2. Group 1 received a sequence of pregabalin-placebo while group 2 received placebo-pregabalin. Pregabalin significantly reduced mean (SD) pain scores by 1.9 (1.5) points when controlling for sequence and treatment period vs baseline, while placebo had 0.1 (2.0) points of reduction. The effect of pregabalin was a mild but significant reduction in itch compared to baseline (mean [SD] points, 0.9 [2.2]), whereas the placebo produced no reduction (0.1 [2.5]). The mean pregabalin dose was generally well tolerated.</jats:p></jats:sec><jats:sec><jats:title>Conclusions and Relevance</jats:title><jats:p>The results of this randomized crossover trial indicate that pregabalin significantly reduced pain and itch scores from baseline compared to placebo in patients with RDEB. This feasibility study provided preliminary data on the efficacy of pregabalin in managing pain and itch in RDEB and gathered essential data to inform the design of a larger cohort trial.</jats:p></jats:sec><jats:sec><jats:title>Trial Registration</jats:title><jats:p>ClinicalTrials.gov Identifier: <jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="uri" xlink:href="https://clinicaltrials.gov/study/NCT03928093">NCT03928093</jats:ext-link></jats:p></jats:sec>
      2Scopus© Citations 6
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    Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma
    (2019)
    Velina S. Atanasova
    ;
    Celine Pourreyron
    ;
    Mehdi Farshchian
    ;
    Michael Lawler
    ;
    Christian A. Brown
    <jats:title>Abstract</jats:title> <jats:sec> <jats:title>Purpose:</jats:title> <jats:p>Squamous cell carcinoma (SCC) of the skin is the leading cause of death in patients with the severe generalized form of the genetic disease recessive dystrophic epidermolysis bullosa (RDEB). Although emerging data are identifying why patients suffer this fatal complication, therapies for treatment of RDEB SCC are in urgent need.</jats:p> <jats:p>Experimental Design: We previously identified polo-like kinase 1 (PLK1) as a therapeutic target in skin SCC, including RDEB SCC. Here, we undertake a screen of 6 compounds originally designated as PLK1 inhibitors, and detail the efficacy of the lead compound, the multipathway allosteric inhibitor ON-01910, for targeting RDEB SCC in vitro and in vivo.</jats:p> </jats:sec> <jats:sec> <jats:title>Results:</jats:title> <jats:p>ON-01910 (or rigosertib) exhibited significant specificity for RDEB SCC: in culture rigosertib induced apoptosis in 10 of 10 RDEB SCC keratinocyte populations while only slowing the growth of normal primary skin cells at doses 2 orders of magnitude higher. Furthermore, rigosertib significantly inhibited the growth of two RDEB SCC in murine xenograft studies with no apparent toxicity. Mechanistically, rigosertib has been shown to inhibit multiple signaling pathways. Comparison of PLK1 siRNA with MEK inhibition, AKT inhibition, and the microtubule-disrupting agent vinblastine in RDEB SCC shows that only PLK1 reduction exhibits a similar sensitivity profile to rigosertib.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions:</jats:title> <jats:p>These data support a "first in RDEB" phase II clinical trial of rigosertib to assess tumor targeting in patients with late stage, metastatic, and/or unresectable SCC.</jats:p> </jats:sec>
      24Scopus© Citations 32
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