Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer.

Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathological, and molecular features of CRC in Chilean patients according to the age of diagnosis: early- (≤50 years; EOCRC), intermediate- (51-69 years; IOCRC), and late-onset (≥70 years; LOCRC). The study included 426 CRC patients from Clinica Las Condes, between 2007 and 2019. A chi-square test was applied to explore associations between age of onset and clinicopathological characteristics. Body Mass Index (BMI) differences according to age of diagnosis was evaluated through t-test. Overall (OS) and cancer-specific survival (CSS) were estimated by the Kaplan-Meier method. We found significant differences between the age of onset, and gender, BMI, family history of cancer, TNM Classification of Malignant Tumors stage, OS, and CSS. EOCRC category was characterized by a family history of cancer, left-sided tumors with a more advanced stage of the disease but better survival at 10 years, and lower microsatellite instability (MSI), with predominant germline mutations. IOCRC has shown clinical similarities with the EOCRC and molecular similarities to the LOCRC, which agrees with other reports.

Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.

Lynch syndrome (LS) is associated with the highest risk of colorectal (CRC) and several extracolonic cancers. In our effort to characterize LS families from Latin America, this study aimed to describe the spectrum of neoplasms and cancer risk by gender, age and gene, and survival in 34 Chilean LS families. Of them, 59% harbored path_MLH1, 23% path_MSH2, 12% path_PMS2 and 6% path_EPCAM variants. A total of 866 individuals at risk were identified, of which 213 (24.6%) developed 308 neoplasms. In males, CRC was the most common cancer (72.6%), while females showed a greater frequency of extracolonic cancers (58.4%), including uterus and breast (p < 0.0001). The cumulative incidence of extracolonic cancers was higher in females than males (p = 0.001). Path_MLH1 variants are significantly more associated with the development of CRC than extracolonic tumors (59.5% vs. 40.5%) when compared to path_MSH2 (47.5% vs. 52.5%) variants (p = 0.05018). The cumulative incidence of CRC was higher in path_MLH1/path_MSH2 carriers compared to path_PMS2 carriers (p = 0.03). In addition, path_MSH2 carriers showed higher risk of extracolonic tumors (p = 0.002). In conclusion, this study provides a snapshot of the LS profile from Chile and the current LS-associated diagnostic practice and output in Chile. Categorizing cancer risks associated with each population is relevant in the genetic counselling of LS patients.

Concordancia entre la percepción materna y el estado nutricional de sus hijos antes y después de una intervención educativa / Concordance between maternal perception and child's nutritional status before and after an educational intervention

RESUMEN La malnutrición por exceso es un problema de salud y su rápida pesquisa mediante percepción materna (PM), permite intervenciones tempranas enfocadas a disminuir sus consecuencias y costos asociados. El objetivo fue determinar la concordancia entre PM y estado nutricional (EN) de sus hijos, antes y después de una intervención educativa. Participaron 116 diadas madre-hijo de 2 a 5 años, de 4 jardines de Viña del Mar, donde se determinó EN y PM mediante imágenes corporales de los niños. Posteriormente, 57 madres con PM erradas respecto a estado nutricional de su hijo participaron de una intervención educativa de 40 minutos cada 15 días por 3 meses. La concordancia entre el PM y estado nutricional fue evaluada con el test de Kappa. El EN de los niños fue: 3,4% bajo peso; 49,1% normal; 28,4% sobrepeso y 19,0% obesidad. Para la PM el 99,1% subestimó el EN de su hijo (Kappa= 0,022 y p= 0,610). Posterior a la intervención, mejoró la PM en 59,6% y un 40,3% continuó subestimando el EN (kappa= 0,362 y p= 0,000). En este estudio, la PM tiende a subestimar el EN de sus hijos y una intervención educativa mejoró la PM y la concordancia entre PM y el EN de ellos.

ABSTRACT Overnutrition is a health problem and its rapid diagnosis through maternal perception (MP), allows for early intervention focused on reducing consequences and associated costs. The objective of this study was to determine the concordance between MP and child's nutritional status, before and after an educational intervention. Participants were 116 mother-child (2 to 5 years old) dyads from, from 4 daycare centers in Viña del Mar, Chile. Nutritional status was determined and MP was performed using children's body images. Subsequently 57 mothers with MP discordant with child's nutritional status participated in a 40-minute educational intervention every 15 days for 3 months. Concordance between MP and child's nutritional status was evaluated with Kappa. Nutritional status of the 116 children was: 3.4% underweight; 49.1% normal; 28.4% overweight, 19.0% obesity. MP indicated that 99.1% underestimated their child's nutritional status (Kappa = 0.022 and p= 0.610). After intervention, MP improved to 59.6% and 40.3% continued to underestimating child's nutritional status (kappa= 0.362 and p= 0.000). In this study, mothers tended to underestimate the nutritional status of their children. An educational intervention improved MP and the agreement between MP and child's nutritional status.