Marta Ascurra

Prevalence of an inherited cancer predisposition syndrome associated with the germ line TP53 R337H mutation in Paraguay

The tumor suppressor gene TP53 is the most frequently mutated gene in human cancer, and the germline TP53 R337H mutation is the most common mutation reported to date. However, this mutation is associated with a lower cumulative lifetime cancer risk than other mutations in the p53 DNA-binding domain. A detailed statistical analysis of 171,500 DNA tests in Brazilian neonates found that 0.27% of the general population is positive for this mutation, and some of the estimated 200,000 Brazilian R337H carriers in southern and southeastern Brazil have already developed cancer. The present study was designed to estimate R337H prevalence in neighboring Paraguay. To address this question, 10,000 dried blood samples stored in Guthrie cards since 2008 were randomly selected from the Paraguayan municipalities located at the border with Brazil. These samples were tested for R337H mutation using the PCR-restriction fragment length polymorphism assay. This germline mutation was detected in five samples (5/10,000), indicating that the total number of R337H carriers in Paraguay may be as high as 3500. Previous studies have shown that other countries (i.e., Portugal, Spain, and Germany) presented one family with this mutation, leading us to conclude that, besides Brazil and Paraguay, other countries may have multiple families carrying this mutation, which is an inherited syndrome that is difficult to control.

Exploring the Implementation of e-Health Practices in a Low Income Country

In low income countries like Paraguay, broad segments of the population have only limited access to health services and lack sufficient human and financial resources as well as infrastructure for an appropriate health service delivery. At the same time, access to information and communication technologies (ICTs) varies across countries and population groups.

Incidencia de hipotiroidismo congénito en 14 regiones sanitarias del Paraguay

111 RESUMEN El Hipotiroidismo Congenito, una de las causas tratables mas comunes de retardo mental, ocurre en aproximadamente uno en 3000 recien nacidos. Se investiga la incidencia del hipotiroidismo congenito en Paraguay, pais considerado endemico para los Desordenes por Deficiencia de Yodo. Han sido recolectadas 53.360 muestras de sangre obtenidas por puncion del talon y recogidas en papel de filtro, de octubre de 1999 a febrero del 2007, en 76 sitios de toma de muestra distribuidos en 14 de las 18 regiones sanitarias del pais. El tamizaje se llevo a cabo en principio como parte de un proyecto piloto y luego dentro del Programa de Prevencion de la Fibrosis Quistica y del Retardo Mental. La hormona estimulante de las tiroides fue medida por el metodo de ELISA y un valor >20UI/ml fue considerado como punto de corte para el re-llamado. Se obtuvo resultado en el 96% (52.526) de las muestras. El 0,08% (40/52.526) arrojo resultado positivo y se confirmo Hipotiroidismo Congenito en 35 casos, incidencia de 1 por cada 1.501 recien nacidos, con una razon de 6:1 para el sexo femenino: masculino. Esta incidencia de Hipotiroidismo Congenito es la mas alta reportada para Latinoamerica, lo que refuerza la importancia de la implementacion de este tipo de programa en la lucha contra la erradicacion de los Desordenes por Deficiencia de Yodo.

P1-104 Community syndromic surveillance system using information and communication technology in Paraguay

The objective of syndromic surveillance is to identify illness clusters early and to mobilise a rapid response, thereby reducing morbidity and mortality. Objective To describe the system named Bonis, which uses Information and Communication Technology to prevent, warn, monitor and control the spread of febrile syndromes and influenza like illness (ILI) at the community level. Methods Bonis has a kernel free software application; Asterisk, a phone center with VoIP service, PHP as Script language and Mysql as data base management. The system was implemented in a primary healthcare. Results The developed system has the ability to record, classify, and prioritise automatically through the Interactive Voice Response the suspected cases. It has been programmed in a PHP language script AGI to improve the functionality of the Asterisk, in a way that during the user call to report a possible case, the system feeds a database, through the manager module based in a web application developed in PHP. The system, to which the users access from a mobile or fixed telephone, automatically receives the call with 9 questions on signs and symptoms. The system is working since May 2010 and records the phone calls correctly; follow-ups of these patients are performed by the teams within a period of 24 h. Conclusion The developed system is allowing the community to notify and register events that require surveillance, and the community health agents is prioritising visits to those homes from where fever cases are reported for sooner and more appropriate interventions.