Browsing by Author "Araya, Diego"
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Publication Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile(2024) Poli Harlowe, María Cecilia; Rebolledo Jaramillo, Boris; Lagos, Catalina; Orellana, Joan; Moreno, Gabriela; Martín, Luz M.; Encina, Gonzalo; Böhme, Daniela; Faundes, Víctor; Zavala, M. Jesús; Hasbún, María Trinidad; Fischer, Sara; Brito, Florencia; Araya, Diego; Lira, Manuel; Cruz, Javiera de la; Astudillo, Camila; Lay-Son, Guillermo; Cares, Carolina; Aracena, Mariana; San Martín, Esteban; Coban-Akdemir, Zeynep; Posey, Jennifer E.; Lupski, James R.; Repetto, GabrielaRare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings, particularly exome and genome sequencing, has resulted in an unprecedented improvement in diagnosis and discovery in the past decade. Nevertheless, these tools are unavailable in many countries, increasing health care gaps between high- and low-and-middle-income countries and prolonging the “diagnostic odyssey” for patients. To advance genomic diagnoses in a setting of limited genomic resources, we developed DECIPHERD, an undiagnosed diseases program in Chile. DECIPHERD was implemented in two phases: training and local development. The training phase relied on international collaboration with Baylor College of Medicine, and the local development was structured as a hybrid model, where clinical and bioinformatics analysis were performed in-house and sequencing outsourced abroad, due to lack of high-throughput equipment in Chile. We describe the implementation process and findings of the first 103 patients. They had heterogeneous phenotypes, including congenital anomalies, intellectual disabilities and/or immune system dysfunction. Patients underwent clinical exome or research exome sequencing, as solo cases or with parents using a trio design. We identified pathogenic, likely pathogenic or variants of unknown significance in genes related to the patients´ phenotypes in 47 (45.6%) of them. Half were de novo informative variants, and half of the identified variants have not been previously reported in public databases. DECIPHERD ended the diagnostic odyssey for many participants. This hybrid strategy may be useful for settings of similarly limited genomic resources and lead to discoveries in understudied populations.Item Platelet Count in Patients with Mild Disease at Admission is Associated with Progression to Severe Hantavirus Cardiopulmonary Syndrome(2019) López, René; Vial, Cecilia; Graf, Jerónimo; Calvo, Mario; Ferrés, Marcela; Mertz, Gregory; Cuiza, Analía; Agüero, Begonia; Aguilera, Dante; Araya, Diego; Pailamilla, Ignacia; Paratori, Flavia; Torres-Torres, Víctor; Vial, Pablo; HantavirusStudy Group in ChileBACKGROUND: Hantavirus cardiopulmonary syndrome (HCPS) has a mortality up to 35-40% and its treatment is mainly supportive. A variable to predict progression from mild to severe disease is unavailable. This study was performed in patients with documented infection by Andes orthohantavirus, and the aim was to find a simple variable to predict progression to moderate/severe HCPS in patients with mild disease at admission. METHODS: We performed a retrospective analysis of 175 patients between 2001 and 2018. Patients were categorized into mild, moderate, and severe disease according to organ failure and advanced support need at hospital admission (e.g., mechanical ventilation, vasopressors). Progression to moderate/severe disease was defined accordingly. Clinical and laboratory variables associated with progression were explored. RESULTS: Forty patients with mild disease were identified; 14 of them progressed to moderate/severe disease. Only platelet count was different between those who progressed versus those that did not (37 (34-58) vs. 83 (64-177) K/mm3, p < 0.001). A ROC curve analysis showed an AUC = 0.889 (0.78-1.0) p < 0.001, with a platelet count greater than 115K /mm3 ruling out progression to moderate/severe disease. CONCLUSIONS: In patients with mild disease at presentation, platelet count could help to define priority of evacuation to tertiary care centers.Item Situación epidemiológica del cáncer testicular en Chile(2023) Muñoz, Javier; Roasenda, Paola; Véjar, Constanza; Guerrero, Antonia; Araya, DiegoEl cáncer testicular constituye el tumor sólido más frecuente en hombres adultos jóvenes y presenta diversos factores de riesgo que alteran su incidencia. Chile presenta una de las incidencias más altas a nivel mundial de cáncer testicular, y se ha visto que las personas entre 20 - 34 años presentan el mayor índice de incidencia y mortalidad, esta última manteniéndose en un plateau los últimos años. Al observar la trascendencia epidemiológica de esta enfermedad, surgió la interrogante de cuál es la situación epidemiológica del cáncer testicular en Chile. Objetivo: Realizar una revisión epidemiológica sobre el cáncer testicular, respecto a su incidencia, mortalidad, egresos hospitalarios, sobrevida, años de vida potenciales perdidos y años de vida ajustados por discapacidad en Chile entre los años 2002 - 2019. Metodología: Se realizó un estudio observacional descriptivo longitudinal retrospectivo en base a una población de hombres con cáncer testicular a nivel nacional. Resultado y Discusión: Los resultados arrojaron un importante aumento de la incidencia en hombres entre 25 - 29 años en los últimos años, así como también un leve aumento de la mortalidad en este mismo grupo. Además, se evidenció que la sobrevida en Chile es alta incluso en estados avanzados de la enfermedad, lo cual conlleva a un aumento en los años de vida con discapacidad. Conclusión: Se concluyó que es importante fomentar e investigar sobre la prevención de este cáncer, debido al impacto que tiene en gente joven, sumado a un mayor impacto económico y social.