Browsing by Author "Kolbach Rengifo, Marianne Helene"

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    Acquired telangiectatic plaque-like glomangioma on the forehead
    (2013) Farías, María M.; Kolbach Rengifo, Marianne Helene; Pérez Rivera, Mario Sebástian; González Bombardiere, Sergio; Hasson N., Ariel
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    Correlación genotipo-fenotipo de un grupo de pacientes con fibrosis quística
    (Soc. Médica Santiago, 2002) Navarro M., Héctor; Kolbach Rengifo, Marianne Helene; Repetto Lisboa, María Gabriela; Guiraldes Cameratti, Ernesto; Harris D., Paul R.; Foradori, Arnaldo; Poggi, Helena; Sánchez Díaz, Ignacio
    Background: Cystic fibrosis (CF) is the most common lethal autosomic disease in Caucasians, with a global incidence of 1:3000 newborns. More than 900 mutations have been described, involving the Cystic Fibrosis Transmembrane Regulator (CFTR). The delta F508 mutation is present in 60% of alleles studied worldwide.Aim: To report 25 patients with cystic fibrosis in whom a genetic study was done.Material and methods: Twenty five patients (14 men, aged between 18 months and 25 years) with a diagnosis of cystic fibrosis based on clinical features plus two abnormal sweat tests are reported. The genetic study considered the 20 most common mutations in cystic fibrosis and was done in genomic DNA of peripheral lymphocytes, by polymerase chain reaction.Results: A mutation was found in 75% of analyzed alleles. delta F508 was present in 50% of cases (delta F508/delta F508 in 8 and delta F508/other in 11). When delta F508 was present, pancreatic insufficiency was always a feature and nutritional status was worse. Respiratory involvement was variable, both for homozygous and heterozygous cases. Other severe mutations such as W128X and G542X were related to clinical manifestations similar to those found in delta F508 mutation. Diagnosis was made before six months of age in 12 patients. The clinical presentation was meconium ileus and there was a family history of the disease in most cases. The majority of cases of early diagnosis presented severe mutations, but milder respiratory symptoms and lesser nutritional compromise at the time of assessment.Conclusions: Most patients studied had a severe cystic fibrosis mutation, which was associated with more severe respiratory, pancreatic and nutritional involvement. The early diagnosis of the disease, which would allow to improve the prognosis and the quality of life, must be emphasized.
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    Dowling-Degos disease: report of a family with no response to laser treatments.
    (2018) Navarrete Dechent, Cristián Patricio; Dossi, Maria T.; Villagra, Mauricio; Kolbach Rengifo, Marianne Helene; González Bombardiere, Sergio
    La enfermedad de Dowling-Degos (DDD), conocida también como ‘anomalía reticulada y pigmentada de las flexuras’ es una rara genodermatosis autosómica dominante. Se caracteriza por la aparición de máculas hiperpigmentadas de configuración reticulada; afectando principalmente los grandes pliegues como las axilas e ingles. Pudiendo, además, comprometer otros pliegues como cervicales, antecubitales, submamarios e interglúteos. Otras características asociadas son las lesiones tipo comedones y los pits palmo-plantares. Presentamos el caso de una familia con enfermedad de Dowling-Degos sin respuesta al tratamiento con laser Nd:YAG y CO2. Se realiza una revisión de la literatura de los tratamientos disponibles.
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    Ébola : caracterización, historia y manifestaciones cutáneas; lo que debemos saber
    (2015) Kolbach Rengifo, Marianne Helene; Carrasco Zuber, Juan Eduardo; Vial Letelier, Verónica
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    Efficacy of acitretin and topical clobetasol in trachyonychia involving all twenty nails
    (2016) Kolbach Rengifo, Marianne Helene; Navajas Galimany, L.; Araneda Castiglioni, D.; Reyes Vivanco, C.
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    Melkersson-Rosenthal syndrome: An infrequent cause of chronic facial edema
    (2011) Kolbach Rengifo, Marianne Helene; Arellano L, J.; Cárdenas D, C.; González Bombardiere, Sergio
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    Picaduras de medusas: actualización
    (2004) Vera Kellet, Cristián Andrés; Kolbach Rengifo, Marianne Helene; Zegpi Trueba, María Soledad; Vera K., Francisco; Lonza J., Juan Pedro
    Jellyfish are aquatic organisms, whose number increases under certain conditions of water temperature. They can sting humans, which can be fatal. The liberation of structures known as nematocysts induces the extrusion of the poison, to attack their victims. The poison produces characteristic local and systemic reactions. Since an increased number of these organisms has been detected in our coastline, we review the epidemiology, symptoms and diagnosis of the syndrome produced by the bite, to improve its management.
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    Sweet Syndrome in Pediatric Active Ulcerative Colitis
    (Lippincott Williams & Wilkins, 2021) Miranda Retamal, Estefania Carolina; Meza Romero, Rodrigo Antonio; Kolbach Rengifo, Marianne Helene; Torres, Javiera; Harris D., Paul R.
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    Trasplante hepático por insuficiencia cardíaca secundaria a telangiectasia hemorrágica hereditaria o enfermedad de Rendu Osler Weber. Caso clínico
    (2017) Ahumada, V.; Tejos, R.; Moraga, F.; Achurra Tirado, Pablo; Godoy, I.; Loyola, S.; Torres Montes, Paula Javiera; Kolbach Rengifo, Marianne Helene; Benitez, Carlos; Guerra, J.; Jarufe Cassis, Nicolás; Martinez, J.
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    Tungiasis, una enfermedad tropical emergente en Chile. Comunicación de tres casos clínicos importados
    (2013) Fich, Félix; Del Barrio Díaz, P.; Kam, S.; Celle, V.; Concha Rogazy, Marcela; Kolbach Rengifo, Marianne Helene; Carrasco Zuber, J.