Research advances in the pathogenesis and treatment of neurodegeneration with brain iron accumulation / 中国当代儿科杂志

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic degenerative diseases caused by genetic mutations and characterized by iron deposition in the central nervous system, especially in the basal ganglia, with an overall incidence rate of 2/1 000 000-3/1 000 000. Major clinical manifestations are extrapyramidal symptoms. This disease is presently classified into 14 different subtypes based on different pathogenic genes, and its pathogenesis and treatment remain unclear. This article summarizes the research advances in the pathogenesis and treatment of NBIA, so as to help pediatricians understand this disease and provide a reference for subsequent research on treatment.

Costo-beneficio de un programa preventivo y terapéutico para reducir la deficiencia de hierro en Argentina / Cost-benefit of a prevention and treatment program to reduce iron deficiency in Argentina

OBJETIVOS: Estimar los costos directos e indirectos de la deficiencia de hierro (DH) y la anemia ferropénica (AF) en Argentina y compararlos con los costos de un programa específico para su prevención y tratamiento. MÉTODOS: Análisis de escenario previo (ex ante) de la relación costo-beneficio de un programa de prevención y tratamiento de la AF dirigido a todos los niños y las embarazadas pobres y sin cobertura social de Argentina. Las consecuencias económicas de la DH y la AF se estimaron a partir de los costos directos - gastos vinculados a la atención de un parto prematuro - e indirectos - pérdidas en la productividad futura de los niños por su peor desarrollo cognitivo debido a la DH y la menor productividad de los adultos por la AF - mediante la metodología específica desarrollada por The Micronutrient Initiative. Las intervenciones se definieron según las Guías de Práctica Clínica vigentes en Argentina y los costos de los componentes se tomaron de los precios de las licitaciones del Ministerio de Salud de la Nación. RESULTADOS: Cada US$ 1,00 invertido en un programa de prevención y tratamiento de la DH y la AF, con una cobertura de 90 por ciento de la población de lactantes y embarazadas pobres sin seguro explícito de salud, representaría un ahorro de US$ 33,40 por la prevención de las pérdidas económicas debidas a estas enfermedades. CONCLUSIÓN: Las intervenciones para enfrentar la DH no solo mejoran significativamente el estado de salud de la población, sino que representan un ahorro considerable de recursos.

OBJECTIVES: To estimate the direct and indirect cost of iron deficiency (ID) and iron-deficiency anemia (IDA) in Argentina and compare it with the cost of a prevention and treatment program. METHODS: Analysis of a prior scenario to gage the relative cost-benefit of an IDA prevention and treatment program for all low-income children and expectant mothers without social coverage/benefits in Argentina. The economic consequences of ID and IDA were estimated as direct (cost of care for premature birth) and indirect costs (future lost productivity due to poor cognitive development due of children with ID and current reduced productivity of adults with IDA) employing the specific methodology designed by The Micronutrient Initiative (Ottawa, Canada). The interventions were defined according the practical clinical guidelines in use in Argentina and the item costs were taken from Ministry of Health price lists. RESULTS: Each US$ 1.00 invested in an ID and IDA prevention and treatment program, assuming 90 percent coverage of breastfeeding/pregnant uninsured low-income mothers, would save US$ 33.40 by preventing the economic losses that would otherwise result from these conditions. CONCLUSIONS: DH interventions not only significantly improve the health status of the population, but also offer a considerable savings.

Anemias carenciais na infancia / Nutritional deficiency-related anemias in children

Na faixa etaria pediatrica, a carencia alimentar se constitui na causa mais comum de anemia, particularmente nos paises em desenvolvimento. O acesso irregular a uma alimentacao balanceada, a elevada incidencia de parasitoses intestinais e o requerimento continuo e elevado de nutrientes devido ao crescimento, tornam as criancas propensas a desenvolver anemia carencial. Apesar de ser um problema clinico de resolucao relativamente facil apos instalado, estaria nos esforcos de prevencao a atitude mais correta dos pontos de vista medico, social e politico. Os autores fazem uma revisao da literatura abordando as tres principais deficiencias alimentares que resultam em anemia (ferropenia e as deficiencias de vitamina B12 e folato), com especial enfase as suas causas, manifestacoes clinicas, diagnostico tratamento