Browsing by Author "Cavada, G."
Now showing 1 - 5 of 5
Results Per Page
Sort Options
- ItemClinical and molecular characterization of Chilean patients with X-linked hypophosphatemia(2021) Jimenez, M.; Ivanovic-Zuvic, D.; Loureiro, C.; Carvajal, C. A.; Cavada, G.; Schneider, P.; Gallardo, E.; Garcia, C.; Gonzalez, G.; Contreras, O.; Collins, M. T.; Florenzano, P.We report the most comprehensive clinical and molecular characterization of XLH patients performed in Chile. We show high prevalence of musculoskeletal burden and pain, associated with significantly impaired physical capacity and quality of life, with many relevant complications presenting more frequently than previously reported in cohorts from developed countries. Introduction Our current understanding of the clinical presentation and natural history of X-linked hypophosphatemia (XLH) comes mainly from cohorts from developed countries, with limited data on the clinical and genetic abnormalities of XLH patients in South America. Objective To describe the clinical, biochemical, and molecular presentation of patients with XLH in Chile. Methods Patients with XLH referred by endocrinologist throughout Chile were included. Demographic data and clinical presentation were obtained from a clinical interview. Surveys were applied for quality of life (QoL), pain, and functionality. FGF23 was measured by ELISA, and genetic testing was performed. Imaging studies were conducted to assess skeletal and renal involvement. Results We included 26 patients, aged 2-64 years, from 17 unrelated Chilean families. All pediatric patients but only 40% of adults were receiving conventional therapy, while 65% of all patients had elevated alkaline phosphatase. All patients had mutations in PHEX, including 5 novel variants. Radiographic skeletal events (RSE) and enthesopathies in adults were frequent (34% and 85%, respectively). The duration of treatment was associated with fewer RSE (p < 0.05). Most adults reported pain and impaired QoL, and 50% had impaired physical capacity. The number of enthesopathies was associated with worse pain and stiffness scores (p < 0.05). Conclusion Chilean patients with XLH have a high prevalence of musculoskeletal burden associated with pain and impaired physical capacity and QoL, especially in adults who were generally undertreated. These data identify a significant unmet need, inform our understanding of the current status of patients, and can guide care for XLH patients in similarly socioeconomically defined countries.
- ItemImprovement in postoperative mortality in elective gastrectomy for gastric cancer: Analysis of predictive factors in 1066 patients from a single centre(2017) Norero Muñoz, Enrique; Vega, E.; Diaz, C.; Cavada, G.; Ceroni Villanelo, Marco; Martínez Belmar, Cristian Antonio; Briceño, Eduardo; Araos, F.; Gonzalez, P.; Báez Vallejos, Sergio Antonio; Viñuela Fawaz, Eduardo Andrés; Caracci, M.; Diaz, A.
- ItemRazón cintura estatura como predictor de riesgo cardiometabólico en niños y adolescentes(2010) Arnaiz Sánchez, Pilar; Acevedo B., Mónica; Díaz, C.; Bancalari, R.; Barja Y., Salesa; Aglony Imbarack, Marlene Elizabeth; Cavada, G.; García, H.En niños, la obesidad general y visceral se asocian con mayor riesgo cardiometabólico. El aumento en la prevalencia del síndrome metabólico (SM) en niños y adolescentes empeora el riesgo cardiovascular. Necesitamos contar con nuevos marcadores que permitan predecir el SM en niños. Objetivo: Comparar índice de masa corporal (zIMC) con razón cintura estatura (RCE) como pre-dictores de SM en niños chilenos. Método: Estudio transversal en 618 escolares, edad 10.8± 1.9 años, 51.6% mujeres, 190 eutróficos, 174 sobrepeso, 254 obesos, estrato socioeconómico medio y medio bajo, área urbana de Santiago. Determinamos peso, talla, circunferencia de cintura, presión arterial, perfil lipídico y glicemia. Diagnóstico de SM basado en la presencia de > 3 criterios de Cook. El SM se modeló en función de RCE y z score IMC , con modelos de regresión logística. Se usaron curvas ROC para comparar RCE y zIMC como predictores de SM. Punto de corte según índice de YOUDEN. Resultados: La prevalencia de SM fue 15.37 %. Promedio de z IMC + 1.22± 0.90 y de RCE 0.52±0.07. Punto de corte óptimo para SM: RCE 0.55 (sensibilidad 72%, especificidad 70%)yzIMC: 1.76 (sensibilidad 71%, especificidad 74%). Conclusión: RCE y zIMC predicen igualmente el riesgo cardiometabólico en niños y adolescentes. Dada la mayor facilidad de calcular RCE, la transforma en mejor herramienta definiendo riesgo en este grupo. El punto de corte > 0.55 sería buen predictor de SM en niños y adolescentes.
- ItemSuction-assisted lipectomy fails to improve cardiovascular metabolic markers of disease: a meta-analysis(2013) Danilla, S.; Longton, C.; Valenzuela, K.; Cavada, G.; Norambuena, H.; Tabilo, C.; Erazo, C.; Benítez, Susana; Sepúlveda, S.; Schulz, R.; Andrades, P.
- ItemWaist circumference percentiles in children and adolescents between 6 and 14 years from Santiago, Chile(2012) Avalos, C.; Diaz, C.; Martinez, A.; Bancalari, R.; Zamorano, J.; Harbin, F.; Cerda, V.; Fernandez, M.; Cavada, G.; Arteaga, J.; Valenzuela, M.; Toro, M.; Garcia, H.Objective: To describe the percentile distribution of waist circumference (WC) by sex and age in a representative sample of children and adolescents of lower-middle and low socioeconomic status in Santiago, Chile. Methods: A cross-section of 3022 primary-school students between the ages of 6 and 14 from middle-low and low-class schools of Santiago. Ten schools from the Primary Education Society (SIP) in Santiago, Chile, were selected at random. WC was measured under standardized procedures as instructed by the WHO (midpoint between lower costal margin and iliac crest). The population was categorized between percentiles 10 and 90 and divided by sex and age. Results: WC tends to increase with age in both males and females, but no significant differences were found in the percentiles by age for boys and girls at any age range (. p>. 0.05). In our sample, comparing Chilean children with other populations (British, Australian, European-American, African-American, Mexican - American and Colo