Browsing by Author "Downey Concha, Patricio"

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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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    Guía clínica: consenso para Chile en enfermedad de Fabry
    (2012) Varas M, C.; Gómez, G.; Morales T, M.; Molt C, F.; Cabello A, J. F.; Alcántara P, A.; Downey Concha, Patricio; Barría M, C.; Álvarez C, M.; Villarroel S, C.; Ponce M, J. C.; Cortés M, F.; Moraga U, S.; Peredo O, P.
    Fabry's disease is an X-linked recessive inborn error of metabolism of glycosphingolipids, caused by the deficiency of the lisosomal enzyme alpha-galactosidase. It is a rare disease with an estimated incidence rate of approximately 1:80.000 to 1:117,000 births in the general population. Recently, the growing knowledge about this disease has permitted the development of enzyme replacement therapy, which has modified the prognosis and quality of life of these patients. In Chile, the real incidence is unknown, but the increase in the number of patients diagnosed during the last five years, mainly in the north of the country. This guide was prepared with the intention of establishing a consensus for the diagnosis, treatment and monitoring of the patients with Fabry disease based on the present available scientific evidence.
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    Hemofiltración de alto volumen en shock séptico
    (2010) Romero, C.; Downey Concha, Patricio; Hernández P., Glenn
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    High-volume hemofiltration as salvage therapy in severe hyperdynamic septic shock
    (2006) Cornejo, Rodrigo; Downey Concha, Patricio; Castro López, Ricardo; Romero, Carlos; Regueira Heskia, Tomás Emilio; Vega Stieb, Jorge Enrique; Castillo Fuenzalida, Luis Benito; Andresen Hernández, Max Alfonso; Dougnac Labatut, Alberto; Bugedo Tarraza, Guillermo; Hernández Poblete, Glenn Wilson
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    Incidencia e importancia pronóstica del deterioro de la función renal en pacientes hospitalizados con insuficiencia cardiaca
    (2013) Castro Gálvez, Pablo Federico; Verdejo Pinochet, Hugo; Altamirano, R.; Downey Concha, Patricio; Vukasovic, J.; Sepúlveda, L.; Lanas, F.; Bilbao, P. et al.
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    Increased activation of protein C, but lower plasma levels of free, activated protein C in uraemic patients : relationship with systemic inflammation and haemostatic activation
    (BLACKWELL SCIENCE LTD, 2001) Mezzano, Diego; Quiroga Gutiérrez, Sara Teresita; Panes Becerra, Olga Teresa; Pereira Garcés, Jaime Ignacio; Pais, Edgar; Marshall Rivera, Guillermo; Tagle, Rodrigo; Downey Concha, Patricio; Cáceres, Soledad; González, Fernando
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    Method Based on the beta-Lactamase PenPC Fluorescent Labeled for beta-Lactam Antibiotic Quantification in Human Plasma
    (2016) Andresen Hernández, Max; Wong, K.; Leung, Y.; Wong, W.; Chan, P.; Andresen Vásquez, Max; Alegría Aguirre, Luz Katiushka; Silva, C.; Tapia, P.; Downey Concha, Patricio; Soto, D.
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    Plasma and Renal Cortex Meropenem Concentrations in Patients Undergoing Percutaneous Renal Biopsy
    (2019) Sepúlveda Palamara, Rodrigo Andrés; Downey Concha, Patricio; Soto, D.; Wong, K.Y.; Leung, Y.C.; So, L.Y.; Andresen Hernández, Max
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    Population pharmacokinetics and dose simulation of vancomycin in critically ill patients during high-volume haemofiltration
    (2014) Escobar, Leslie; Andresen Hernández, Max; Downey Concha, Patricio; Nella Gai, María; Regueira Heskia, Tomás; Bórquez, Tamara; Lipman, Jeffrey; Roberts, Jason A.
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    Pregnant rats treated with a serotonin precursor have reduced fetal weight and lower plasma volume and kallikrein levels
    (2007) Salas I., Sofía; Downey Concha, Patricio; Mezzano, Diego; Vio Lagos, Carlos P.
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    Sublingual microcirculatory changes during high-volume hemofiltration in hyperdynamic septic shock patients
    (2010) Ruiz, Carolina; Hernández P., Glenn; Godoy, Cristián; Downey Concha, Patricio; Andresen Hernández, Max; Bruhn, Alejandro
    Abstract Introduction Previous studies have suggested that high volume hemofiltration (HVHF) may contribute to revert hypotension in severe hyperdynamic septic shock patients. However, arterial pressure stabilization occurs due to an increase in systemic vascular resistance, which could eventually compromise microcirculatory blood flow and perfusion. The goal of this study was to determine if HVHF deteriorates sublingual microcirculation in severe hyperdynamic septic shock patients. Methods This was a prospective, non-randomized study at a 16-bed, medical-surgical intensive care unit of a university hospital. We included 12 severe hyperdynamic septic shock patients (norepinephrine requirements > 0.3 μg/kg/min and cardiac index > 3.0 L/min/m2) who underwent a 12-hour HVHF as a rescue therapy according to a predefined algorithm. Sublingual microcirculation (Microscan for NTSC, Microvision Medical), systemic hemodynamics and perfusion parameters were assessed at baseline, at 12 hours of HVHF, and 6 hours after stopping HVHF. Results Microcirculatory flow index increased after 12 hours of HVHF and this increase persisted 6 hours after stopping HVHF. A similar trend was observed for the proportion of perfused microvessels. The increase in microcirculatory blood flow was inversely correlated with baseline levels. There was no significant change in microvascular density or heterogeneity during or after HVHF. Mean arterial pressure and systemic vascular resistance increased while lactate levels decreased after the 12-hour HVHF. Conclusions The use of HVHF as a rescue therapy in patients with severe hyperdynamic septic shock does not deteriorate sublingual microcirculatory blood flow despite the increase in systemic vascular resistance.Abstract Introduction Previous studies have suggested that high volume hemofiltration (HVHF) may contribute to revert hypotension in severe hyperdynamic septic shock patients. However, arterial pressure stabilization occurs due to an increase in systemic vascular resistance, which could eventually compromise microcirculatory blood flow and perfusion. The goal of this study was to determine if HVHF deteriorates sublingual microcirculation in severe hyperdynamic septic shock patients. Methods This was a prospective, non-randomized study at a 16-bed, medical-surgical intensive care unit of a university hospital. We included 12 severe hyperdynamic septic shock patients (norepinephrine requirements > 0.3 μg/kg/min and cardiac index > 3.0 L/min/m2) who underwent a 12-hour HVHF as a rescue therapy according to a predefined algorithm. Sublingual microcirculation (Microscan for NTSC, Microvision Medical), systemic hemodynamics and perfusion parameters were assessed at baseline, at 12 hours of HVHF, and 6 hours after stopping HVHF. Results Microcirculatory flow index increased after 12 hours of HVHF and this increase persisted 6 hours after stopping HVHF. A similar trend was observed for the proportion of perfused microvessels. The increase in microcirculatory blood flow was inversely correlated with baseline levels. There was no significant change in microvascular density or heterogeneity during or after HVHF. Mean arterial pressure and systemic vascular resistance increased while lactate levels decreased after the 12-hour HVHF. Conclusions The use of HVHF as a rescue therapy in patients with severe hyperdynamic septic shock does not deteriorate sublingual microcirculatory blood flow despite the increase in systemic vascular resistance.