YUBERO GONCALVEZ, MARIA JOAO
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YUBERO GONCALVEZ, MARIA JOAO
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myubero@udd.cl
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36197703800

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Longitudinal study of wound healing status and bacterial colonisation of Staphylococcus aureus and Corynebacterium diphtheriae in epidermolysis bullosa patients

2022 , FUENTES BUSTOS, MARIA IGNACIA , YUBERO GONCALVEZ, MARIA JOAO , Pilar Morandé , Carmen Varela , Karen Oróstica , Francisco Acevedo , REBOLLEDO JARAMILLO, BORIS EDUARDO , Esteban Arancibia , PORTE TORRE, LORENA ISABEL , PALISSON ETCHARREN, FRANCIS

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Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance

2017 , M. Campos , REPETTO LISBOA, MARIA GABRIELA , P. Morandé , YUBERO GONCALVEZ, MARIA JOAO , S. Gonzalez , A. Klausegger , P. Schnitzhofer , G. Pohla-Gubo , J. Bauer , PALISSON ETCHARREN, FRANCIS , FUENTES BUSTOS, MARIA IGNACIA

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Case Report: Crown Resorption in a Patient With Junctional Epidermolysis Bullosa and Amelogenesis Imperfecta With LAMB3 Gene Mutations

2021 , Blanca Urzúa , Susanne Krämer , Irene Morales-Bozo , Claudia Camacho , YUBERO GONCALVEZ, MARIA JOAO , PALISSON ETCHARREN, FRANCIS , FUENTES BUSTOS, MARIA IGNACIA , Ana Ortega-Pinto

Background: Epidermolysis bullosa (EB) corresponds to a series of conditions characterized by extreme fragility of the skin and/or mucous membranes. Of the four main types of EB, junctional EB (JEB) is the most associated with alterations in the teeth. The purposes of this study were to determine the clinical, histopathological, and ultrastructural characteristics of teeth with amelogenesis imperfecta (AI) in a patient with JEB, and compare them with control teeth, and correlate the findings with the mutations present in the patient.Case Report: The study was conducted on a 10-year-old patient with JEB carrier of two recessive mutations in the LAMB3 gene and absence of the laminin-332 protein (LM-332), determined by immunofluorescence on a skin biopsy. The patient presents hypoplastic AI with very thin and yellow-brown colored enamel. Extraction of two permanent molars was performed due to pain and soft tissue covering the crown, resembling pulp polyp or hyperplastic gingiva. Light and scanning electron microscopy (SEM) revealed very thin enamel varying from complete absence to 60 μm, absence of normal prismatic structure, and presence of a cross-banding with a laminated appearance. The histopathological study revealed granulation tissue causing external crown resorption.Conclusion: Although coronary resorption has been reported in patients with syndromic and non-syndromic AI, this is the first clinicopathological report of coronary resorption in partially erupted teeth in patients with JEB with mutations in the LAMB3 gene and hypoplastic AI. In patients with this condition, the presence of partially erupted teeth with soft tissue covering part of the crown, without a periodontal pocket, and with a radiographic image of partial coronal radiolucency should lead to suspicion of external coronary resorption.

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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 , Glenda Cofré-Araneda , Olga Figuera , Yessia Hidalgo , Pilar Morandé , PALISSON ETCHARREN, FRANCIS , Boris Rebolledo-Jaramillo , YUBERO GONCALVEZ, MARIA JOAO , Raymond J. Cho , Heather I. Rishel , M. Peter Marinkovich , Joyce M. C. Teng , Timothy G. Webster , Marco Prisco , Luis H. Eraso , Josefina Piñon Hofbauer , Andrew P. South

AbstractImpaired 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.

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Reply to “Whether the absence of tongue papillae caused by various reasons can be regarded as the clinical standard of a certain disease”

2020 , Susanne Krämer , FUENTES BUSTOS, MARIA IGNACIA , María Joao Yubero , Anne W. Lucky , Francis Palisson

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End Stage Renal Disease in a Child with Epidermolysis Bullosa

2016 , CARLOS FELIPE GONZALO CAVAGNARO SANTA MARIA , María Joao Yubero , Marcela Valenzuela , Francis Palisson

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IMMUNE CELL PROFILING OF WOUNDS FROM EPIDERMOLYSIS BULLOSA PATIENTS

2020 , YUBERO GONCALVEZ, MARIA JOAO , FUENTES BUSTOS, MARIA IGNACIA , PALISSON ETCHARREN, FRANCIS , REBOLLEDO JARAMILLO, BORIS EDUARDO , Guttmann-Gruber, Christina , Tockner, Birgit , Anja Diem , Klausegger, Alfred , Cofre-Araneda, Glenda , Figuera, Olga , Hidalgo, Yessia , Morande, Pilar , Cho, Raymond J. , Rishel, Heather I , Marinkovich, M. Peter , Teng, Joyce , Webster, Timothy G. , Prisco, Marco , Eraso, Luis H. , Hofbauer, Josefina Pinon , South, Andrew P.

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PROGNOSIS OF PATIENTS WITH EPIDERMOLYSIS BULLOSA INFECTED WITH PSEUDOMONA AERUGINOSA

2020 , YUBERO GONCALVEZ, MARIA JOAO , FUENTES BUSTOS, MARIA IGNACIA , PALISSON ETCHARREN, FRANCIS , Susanne Kramer , Fuentes, Constanza

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Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

2012 , Fernando A. Rodríguez , María José Gana , YUBERO GONCALVEZ, MARIA JOAO , Gisela Zillmann , Susanne M. Krämer , Javiera Catalán , Julia Rubio-Astudillo , Sergio González , Lu Liu , Linda Ozoemena , Jemima M. Mellerio , John A. McGrath , PALISSON ETCHARREN, FRANCIS , CONGET MOLINA, PAULETTE ANDREA

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Maintenance of chronicity signatures in fibroblasts isolated from recessive dystrophic epidermolysis bullosa chronic wound dressings under culture conditions

2023 , DE GREGORIO CONCHA, CRISTIAN ALEJANDRO , Evelyng Catalán , Gabriel Garrido , Pilar Morandé , CASTILLO BENNETT, JIMENA VICTORIA , Catalina Muñoz , Glenda Cofré , HUANG, YA LIN , Bárbara Cuadra , Paola Murgas , Margarita Calvo , Fernando Altermatt , Andrew P. South , YUBERO GONCALVEZ, MARIA JOAO , PALISSON ETCHARREN, FRANCIS , EZQUER, EDUARDO MARCELO , FUENTES BUSTOS, MARIA IGNACIA

Abstract Background Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare inherited skin disease caused by variants in the COL7A1 gene, coding for type VII collagen (C7), an important component of anchoring fibrils in the basement membrane of the epidermis. RDEB patients suffer from skin fragility starting with blister formation and evolving into chronic wounds, inflammation and skin fibrosis, with a high risk of developing aggressive skin carcinomas. Restricted therapeutic options are limited by the lack of in vitro models of defective wound healing in RDEB patients. Results In order to explore a more efficient, non-invasive in vitro model for RDEB studies, we obtained patient fibroblasts derived from discarded dressings) and examined their phenotypic features compared with fibroblasts derived from non-injured skin of RDEB and healthy-donor skin biopsies. Our results demonstrate that fibroblasts derived from RDEB chronic wounds (RDEB-CW) displayed characteristics of senescent cells, increased myofibroblast differentiation, and augmented levels of TGF-β1 signaling components compared to fibroblasts derived from RDEB acute wounds and unaffected RDEB skin as well as skin from healthy-donors. Furthermore, RDEB-CW fibroblasts exhibited an increased pattern of inflammatory cytokine secretion (IL-1β and IL-6) when compared with RDEB and control fibroblasts. Interestingly, these aberrant patterns were found specifically in RDEB-CW fibroblasts independent of the culturing method, since fibroblasts obtained from dressing of acute wounds displayed a phenotype more similar to fibroblasts obtained from RDEB normal skin biopsies. Conclusions Our results show that in vitro cultured RDEB-CW fibroblasts maintain distinctive cellular and molecular characteristics resembling the inflammatory and fibrotic microenvironment observed in RDEB patients’ chronic wounds. This work describes a novel, non-invasive and painless strategy to obtain human fibroblasts chronically subjected to an inflammatory and fibrotic environment, supporting their use as an accessible model for in vitro studies of RDEB wound healing pathogenesis. As such, this approach is well suited to testing new therapeutic strategies under controlled laboratory conditions.

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