CHACO outreach project: the development of a primary health care-based medical genetic service in an Argentinean province.

Dissemination of knowledge in genetics to be applied in medicine has created a growing need for capacity building in health care workers. The CAPABILITY ARGENTINA outreach project protocol was designed as a model to introduce genetics in areas without genetic services. Our aim was for genetic health care to become part of primary care in an Argentine province lacking genetic services. The program was innovative as professionals from the referral center (Garrahan Hospital S.A.M.I.C.) traveled to remote areas to train professionals through problem-based education. A logical framework was designed for a local needs assessment. Teaching materials (Powerpoint presentations, printed syllabus, and CD) and a web page were developed. A demonstration project was carried out in the Province of Chaco, Argentina. A total of 485 health workers were trained. The number of consultations increased significantly in participating areas comparing before and after the training period. To support this increase, a complementary project was set up from a public hospital sponsored from within Argentina to build a cytogenetic laboratory in the capital of the Province of Chaco. The model was improved for reproduction in other areas in Argentina. CAPABILITY ARGENTINA is a capacity building model for training of primary care professionals in genetics that may be applied to other medical specialties. The outcomes of the programme have a direct impact on clinical practice.

Defectos genómicos como causa de cardiopatías congénitas / Genomic abnormalities as a cause of congenital heart defects

INTRODUCCIÓN Las cardiopatías congénitas (CC) son causadas por el desarrollo anómalo del corazón durante el período embrio-fetal y representan las anomalías congénitas más frecuentes. Si bien la etiología de las CC es heterogénea, los factores genéticos juegan un rol preponderante tanto en casos esporádicos como hereditarios. OBJETIVOS Caracterizar las causas genéticas asociadas a CC conotroncales (CCC) en una muestra de afectados de diferentes regiones argentinas. MÉTODOS En el período comprendido entre mayo de 2013 y mayo de 2014, se incluyó a 80 pacientes provenientes de cuatro hospitales de diferentes jurisdicciones argentinas: Resistencia (Chaco), La Plata (Provincia de Buenos Aires) y las ciudades capitales de las provincias de Neuquén y Salta. Se recogieron muestras para estudios de cariotipo y el análisis de la deleción 22q11 por FISH (Fluorescence in situ hybridization). Asimismo, se analizó la presencia de anomalías genómicas mediante la utilización de dos kits de MLPA (Multiplex Ligation Probe Amplification)- Resultados Al realizar el cariotipo, no se observaron anomalías cromosómicas entre los niños analizados. Sin embargo, el 39% de los afectados poseía alguna anomalía genómica. En 16 pacientes se halló la deleción 22q11. El 50% de los niños con interrupción de arco aórtico presentó esta deleción, que se halló con mayor frecuencia entre aquellos pacientes que presentaban al menos otra anomalía mayor asociada. En ningún paciente con transposición de grandes vasos se halló la deleción 22q11. En 14 pacientes se observó otra anomalía genómica diferente (la más frecuente, desbalances en 17p). DISCUSIÓN Este estudio relevó por primera vez la presencia de anomalías genómicas como causa de CCC a partir de afectados de diferentes regiones argentinas. Se identificó la presencia de la deleción 22q11 en el 21% de los afectados con CCC, y en el 18% de los pacientes se observó la presencia de otros desbalances. El estudio, además, permitió estimar la eficiencia de diferentes metodologías de análisis

Long-term follow-up of radiation accident patients in Peru: review of two cases.

Overexposure to radioactive sources used in radiotherapy or industrial radiography may result in severe health consequences. This report assesses the initial clinical status and the medical and psychological long-term follow-up of two radiation accident patients from Peru during the mid-to-late 1990s: one patient exposed to a radiotherapy (60)Co source in Arequipa, the other patient to a (192)Ir source in Yanango. Commonalities and differences are described. The main causes in both accidents were human error and the failure to apply appropriate safety guidelines and standard operating procedures. Education and training of the personnel working with radiation sources are essential to prevent accidents. The experience gained from the medical management of the two patients is valuable for future treatment of such patients.

Hepatitis A en la infancia. La punta del iceberg infectológico? / Viral Hepatitis A in childhood. The tip of an infections disease iceberg

The objectives of this study were to analyze the seroepidemiologic prevalence of Hepatitis A Virus (HAV) in children of the city of Resistencia by means of specific antibody detection, relate these data with the socio-sanitary conditions, and discuss vaccine strategies. Two hundred and eighty eight children between 2 and 14 years of age, with a mean of 6.6 years, of both sexes and with no patent liver disease were studied. Blood samples were taken, and the presence of total anti-HAV antibodies was determined. A prevalence of 83.3% was found with no significant differences between sexes. When age groups were compared, antibodies were found in 57.3% of children between 2 and 4 years of age, 90.8% in the 5 to 9 group, and 96.6% in the 10 to 14 group. It was seen that the precarious system of excreta elimination, the lack of potable water in the dwellings, and the absence of sanitary devices, were statistically associated with the high prevalence of HAV infection. In view of the high endemicity found in the first years of life, and considering this disease as a marker of other pathologies with a similar pattern of dissemination, these data may represent the tip of an iceberg holding a broad base of accompanying infections with a high impact in the health of the population. A simultaneous approach towards anti HAV vaccination in young children, and the political decision of improving socio-sanitary conditions and decreasing poverty indexes, should be promptly implemented (AU)

Hepatitis A en la infancia. La punta del iceberg infectológico? / Viral Hepatitis A in childhood. The tip of an infections disease iceberg

The objectives of this study were to analyze the seroepidemiologic prevalence of Hepatitis A Virus (HAV) in children of the city of Resistencia by means of specific antibody detection, relate these data with the socio-sanitary conditions, and discuss vaccine strategies. Two hundred and eighty eight children between 2 and 14 years of age, with a mean of 6.6 years, of both sexes and with no patent liver disease were studied. Blood samples were taken, and the presence of total anti-HAV antibodies was determined. A prevalence of 83.3% was found with no significant differences between sexes. When age groups were compared, antibodies were found in 57.3% of children between 2 and 4 years of age, 90.8% in the 5 to 9 group, and 96.6% in the 10 to 14 group. It was seen that the precarious system of excreta elimination, the lack of potable water in the dwellings, and the absence of sanitary devices, were statistically associated with the high prevalence of HAV infection. In view of the high endemicity found in the first years of life, and considering this disease as a marker of other pathologies with a similar pattern of dissemination, these data may represent the tip of an iceberg holding a broad base of accompanying infections with a high impact in the health of the population. A simultaneous approach towards anti HAV vaccination in young children, and the political decision of improving socio-sanitary conditions and decreasing poverty indexes, should be promptly implemented

[Hepatitis A in childhood. The tip of an infectious disease iceberg]. / Hepatitis A en la infancia. La punta del iceberg infectológico?

The objectives of this study were to analyze the seroepidemiologic prevalence of Hepatitis A Virus (HAV) in children of the city of Resistencia by means of specific antibody detection, relate these data with the socio-sanitary conditions, and discuss vaccine strategies. Two hundred and eighty eight children between 2 and 14 years of age, with a mean of 6.6 years, of both sexes and with no patent liver disease were studied. Blood samples were taken, and the presence of total anti-HAV antibodies was determined. A prevalence of 83.3% was found with no significant differences between sexes. When age groups were compared, antibodies were found in 57.3% of children between 2 and 4 years of age, 90.8% in the 5 to 9 group, and 96.6% in the 10 to 14 group. It was seen that the precarious system of excreta elimination, the lack of potable water in the dwellings, and the absence of sanitary devices, were statistically associated with the high prevalence of HAV infection. In view of the high endemicity found in the first years of life, and considering this disease as a marker of other pathologies with a similar pattern of dissemination, these data may represent the tip of an iceberg holding a broad base of accompanying infections with a high impact in the health of the population. A simultaneous approach towards anti HAV vaccination in young children, and the political decision of improving socio-sanitary conditions and decreasing poverty indexes, should be promptly implemented.

Hepatitis A en la infancia. La punta del iceberg infectológico? / [Hepatitis A in childhood. The tip of an infectious disease iceberg]

The objectives of this study were to analyze the seroepidemiologic prevalence of Hepatitis A Virus (HAV) in children of the city of Resistencia by means of specific antibody detection, relate these data with the socio-sanitary conditions, and discuss vaccine strategies. Two hundred and eighty eight children between 2 and 14 years of age, with a mean of 6.6 years, of both sexes and with no patent liver disease were studied. Blood samples were taken, and the presence of total anti-HAV antibodies was determined. A prevalence of 83.3

was found with no significant differences between sexes. When age groups were compared, antibodies were found in 57.3

of children between 2 and 4 years of age, 90.8

in the 5 to 9 group, and 96.6

in the 10 to 14 group. It was seen that the precarious system of excreta elimination, the lack of potable water in the dwellings, and the absence of sanitary devices, were statistically associated with the high prevalence of HAV infection. In view of the high endemicity found in the first years of life, and considering this disease as a marker of other pathologies with a similar pattern of dissemination, these data may represent the tip of an iceberg holding a broad base of accompanying infections with a high impact in the health of the population. A simultaneous approach towards anti HAV vaccination in young children, and the political decision of improving socio-sanitary conditions and decreasing poverty indexes, should be promptly implemented.