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3 results on '"Carmen Varas"'

1. Guidelines to start enzyme replacement therapy in classic Fabry Disease patients in Latin America

Author

Juan Manuel Politei, Hugo Abensur, Norberto Antongiovanni, Diego Bar, Luis Barros, Joseph Brooks, Gustavo Cabrera, Kenneth Carazo, Alberto Ciceran, Wilfredo Cortés, Sonia De Maio, Juan Díaz Salvia, Karen Dublán García, Consuelo Durand, Víctor Espín, Alejandro Fainboim, Adrián Fernández, Sergio Figueroa, Macarena Franco, Griselda Gómez, Michel Gurdet, Ricardo Heguilén, Javier Ibarra, Sebastián Jaurretche, Georgina Loyola Rodríguez, Paula Luna, Ana Martins, Fernando Molt, Sandra Moraga Nuñez, Giselle Myer, Juana Navarrete, Juan Pérez García, Luis Pineda Galindo, Carla Postigo, Juan Prieto, Diego Ripeau, Gabriela Salas Pérez, Azucena Sánchez, Hargoon Santami, Andrea Schenone, Graciela Serebrinsky, Fátima Sierra, José Sobral, Lura Titievsky, Hernán Trimarchi, Guillermo Valadez, Carmen Varas Mundaca, Víctor Velazcor, Valeria Veloso, and Jacobo Villalobos Jacobo

Subjects
Enfermedad de Fabry, terapia de reemplazo enzimático, consensos, tratamiento, Medicine, Specialties of internal medicine, RC581-951
Abstract

Introduction: Fabry disease is a rare inherited X-linked disorder resulting from the absence or deficient activity of the α-galactosidase A enzyme. Objetive: To provide the first guideline on the best time to start enzyme replacement therapy to treat classic Fabry disease, based on the knowledge and experience of experts from ten Latin American countries: Argentina, Brazil, Colombia, Costa Rica, Chile, Ecuador, Mexico, Peru, Uruguay and Venezuela. Methods: The project coordinator designed a survey based on the criteria for starting the treatment which are established in different international guidelines published to date. This document was later sent to all the participants for its evaluation. Results: Fifty experts responded to the survey, whose criteria was divided into 5 sections according to specialty, and they arrived at a consensus. Discussion: The criteria for an early treatment were defined given the growing evidence of a better response and prognosis associated with it. Conclusion: We believe that the importance of this guideline relies on the participation of experts from ten Latin American countries. However, as it deals with a systemic disease whose physiopathological mechanisms and complications are still being described, some manifestations have not been included in the criteria, making it necessary to revise this guideline in order to report any changes that may arise in the future.

Published
2017

2. COMPROMISO CARDÍACO EN PACIENTES CON ENFERMEDAD DE FABRY

Author

Carmen Varas, Fernando Bonacic, Ana Rojas, Miguel A. Morales, María Griselda Gómez, and Mariela Álvarez

Subjects
variante cardíaca, Enfermedad de Fabry, genética
Abstract

Antecedentes: La enfermedad de Fabry (EF) es un desorden lisosomal de transmisión ligada al cromosoma X debido al déficit de la enzima alfa galactosidasa A, con acumulación multisistémica de globotriaosilceramida (GB3). La afectación cardíaca reduce expectativa y calidad de vida. Objetivo: Describir compromiso cardiológico de 38 pacientes con EF, diagnosticados y estudiados multidisciplinariamente. Destacar alta prevalencia en esta región. Método: A partir de caso índice, se aplica encuesta y elabora familiograma de 5 familias. Estudio genético y enzimático de 65 sospechosos confirma 38 afectados (25 Mujeres y 13 hombres) evaluados multidisciplina-riamente con Electrocardiograma, Ecocardiograma y exámenes de laboratorio. Resultado: Compromiso cardiológico en 66% de adultos, no presente en niños. Cardiopatía hipertrófica (CH) fue el hallazgo cardiológico más frecuente (56% de adultos) presente en 63% de los hombres y en 52% de las mujeres. En mayores de 40 años, 100% de hombres y 82% de mujeres están afectados. La edad promedio fue 38 en hombres y 57 en mujeres. Cardiopatía dilatada 26% en su mayoría asociado a CH. Insuficiencia valvular mitral leve en 47%, con predominio femenino, PR corto en 7 mujeres, fibrilación auricular 2 mujeres y 1 hombre, TPSV 1 mujer, BAV completo 1 hombre. Sin eventos coronarios. Conclusión: La afectación cardíaca en nuestro grupo es similar a la reportada internacionalmente. Dada la alta prevalencia que tiene esta patología en nuestro medio, frente a un paciente no hipertenso con hipertrofia ventricular debería descartarse EF. Evaluación dermatológica y oftalmológica apoyaría diagnóstico presuntivo antes de confirmación enzimática o estudio genético.

Published
2013

3. Lupus vulgar: caso infrecuente de tuberculosis extrapulmonar

Author

Carlos Barría M, Constanza Nieme S, and Carmen Varas M

Subjects
Pathology, medicine.medical_specialty, Tuberculosis, Necrosis, biology, medicine.diagnostic_test, Lupus vulgaris, business.industry, Pyoderma, General Medicine, medicine.disease, biology.organism_classification, Chin, Mycobacterium tuberculosis, medicine.anatomical_structure, Cutaneous, Skin biopsy, Erythematous plaque, medicine, Mycobacterium infections, medicine.symptom, business
Abstract

Background: Tuberculosis is uncommonly located in the skin, corresponding to 1 to 2% of extrapulmonary forms. We report a 61-year-old woman, referred due to a two months history of erythematous plaques covered with honey-colored crusts in the left preauricular region and below the chin. The lesions were previously treated as pyoderma with poor response. She was otherwise healthy, without any other symptom. Skin biopsy showed exudative tuberculoid granulomas with caseation necrosis. Koch culture was positive for Mycobacterium tuberculosis. Complementary studies ruled out other foci. Lupus vulgaris was diagnosed and antituberculous therapy started, achieving regression of cutaneous lesions.

Published
2012

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