Browsing by Author "Salas, Paulina"

Now showing 1 - 4 of 4
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    Ambulatory Blood Pressure Monitoring (ABPM) : statement from chilean pediatric nephrology committee
    (2019) Carrillo Verdugo, Daniela; González Celedón, Claudia María; Ceballos, María Luisa; Salas, Paulina; Bolte, Lilian; Alarcón, Claudia; Peredo, Soledad
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    Exploring the clinical and genetical spectrum of ADPKD in Chile to assess ProPKD score as a risk prediction tool
    (2023) Bayyad, Esperanza; Plaza, Anita; Klenner, Jaime; Downey Concha, Patricio; Salas, Paulina; Maragaño, Daniela; Herrera, Patricio; Lehmann, Paula; Quiroz, Lily; Zavala, María J.; Orostica, Karen; Flores, Claudio; Ardiles, Leopoldo; Maturana, Jorge; Krall, Paola
    Background Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited condition associated primarily with PKD1 and PKD2 genes. However, ADPKD patients in Latin America have had limited access to comprehensive care. The ProPKD score predicts the likelihood of kidney failure before the age of 60. This study aimed to describe the clinical and genetic characteristics of Chilean ADPKD patients and assess the ProPKD score. Methods We enrolled 40 ADPKD probands and 122 relatives from different centers. Genetic analysis of PKD1 and PKD2 genes was performed by combining direct and next-generation sequencing. Pathogenicity was determined using bioinformatic tools. ProPKD scores were calculated based on clinical and genetic data. Results ADPKD probands were diagnosed at a median age of 35 years. Pathogenic, likely pathogenic, or uncertain significance variants were identified in 38/40 pedigrees, with 89% involving PKD1 and 11% involving PKD2 variants. Among the identified variants, 62% were novel. Patients with PKD1 truncating variants had a more severe disease course, reaching kidney failure by a median age of 48.5 years. ProPKD scores were assessed in 72 individuals, stratifying them into high-, intermediate-, or low-risk categories and the median ages for kidney failure were 45, 49, and 52 years, respectively (log-rank p = 0.001). Conclusion This study provides valuable insights into the clinical and genetic profiles of ADPKD patients in Chile. ADPKD poses a significant public health concern, warranting improvements in diagnosis and treatment. The use of the ProPKD score to predict disease progression should be further explored to enhance patient care and management.
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    Generative artificial intelligence, large language models and ChatGPT in musculoskeletal Oncology: Current applications and future potential
    (2025) Zamora, Tomás; Salas, Paulina; Zuñiga, Sebastián; Botello, Eduardo; Andía Kohnenkampf, Marcelo Edgardo
    Generative artificial intelligence (AI), particularly large language models (LLMs), has emerged as a transformative technology across all medical specialties, including musculoskeletal (MSK) oncology. These models, such as ChatGPT and others, can process natural language, synthesize vast amounts of information, and generate contextually relevant outputs that resemble human communication. In orthopedic oncology, LLMs show promise in facilitating literature reviews, enhancing patient education, and supporting clinical decision-making by analyzing multidimensional data while providing improved logic-based reasoning. Additionally, they can assist in radiological and pathological workflows by interpreting imaging reports and drafting diagnostic summaries, thereby increasing efficiency and accuracy. In the near future, they are expected to aid in real-time patient follow-up and counseling, information transfer, efficient diagnostics, and even continuous surgical education and assistance. Despite their potential, challenges such as the risk of inaccuracies and biases, as well as the necessity for continuous supervision, warrant a cautious and responsible integration into clinical practice. This narrative review examines the current applications of LLMs in MSK oncology, their limitations, and their future potential in shaping precision medicine and equitable healthcare delivery.
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    Microalbuminuria en Pacientes Pediátricos Con Diagnóstico de síndrome Hemolítico Urémico
    (2015) Cubillos C., María Paz; Salas, Paulina; Zambrano Ostaiza, Pedro Hermógenes