Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations

Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10 percent of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30 percent of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability in serum enzyme activities and discrepancies with mutation analyses were probably due to inappropriate handling and storage of samples sent to the laboratory. Obtaining an appropriate control serum at the same time as that of the suspected child will undoubtedly decrease the false-positive rate (0.09 percent). Mutation analysis can be used to confirm the genotype of these children. The estimated incidence of biotinidase deficiency in Brazil is about 1 in 9,000, higher than in most other countries. Screening and treatment of biotinidase deficiency are effective and warranted. These results strongly suggest that biotinidase deficiency should be included in the newborn mass screening program of Brazil.

Screening for congenital toxoplasmosis in Brazil.

Toxoplasmosis acquired at the end of the pregnancy can produce ocular and neurological sequelae. The detection of IgM anti-Toxoplasma gondii in dried blood spots of newborns is an important tool for early treatment and prevention. In this study we showed results of a pilot study about the prevalence of congenital toxoplasmosis in Brazil and concluded that this disease should be included in the menu of neonatal screening programs.

Persistent tyrosinemia detected by thin-layer chromatography.

Screening for tyrosinemia is not routinely performed worldwide. Using a low expense thin-layer chromatography (TLC) for amino acids we detected a high frequency of transient tyrosinemia with secondary hyperphenylalaninemia in some newborns. Serum follow up showed the need to introduce adequate therapy in these babies.

A comprehensive screening program in South Brazil.

We present the experience and figures about a screening program in South Brazil carried on in Porto Alegre, capital of the Southern Brazilian State. We present the tests performed routinely in our laboratory, the prevalence of some diseases and tests for infectious diseases to be added in the most comprehensive regional program in our country.

Cromatografia camada delgada para a detecçao neonatal de fenilcetonuria e outras aminoacidopatias / Thin-layer chromatography for the detection of neonatal phenylketonuria and others amino acid disorders

A crescente demanda de solicitaçao de testes para identificaçao de desordens no metabolismo dos aminoacidos traz ao mercado diferentes alternativas metodologicas para a identificaçao, basicamente, da fenilalanina. Os autores apresentam sua experiencia com 130.000 amostras de sangue em papel filtro submetidas a testes de triagem neonatal, utilizando um metodo cromatografico abrangente, de facil execuçao e sem a necessidade de equipamentos

Pancreatitis aguda necrohemorragica experimental. Nuevo enfoque terapeutico mediante la oclusion ductal con Ethibloc. / Experiental acute necrohemorrhagic pancreatits.New therapeutic approach by means of the ductal occlusion wiht ethibloc

Se presentan los resultados obtenidos a traves de la accion oclusica del gel Ethibloc, en la evolucion de una pancreatitis aguda necrohemorragica experimental procudida con cloruro de calcio en el perro. La experiencia fue hecha en dos etapas. Primero las lesiones fueron verificadas por microscopia optica y electronica.Luego de producida da pancreatitis aguda necrohemorragica, en 12 perros y en el mismo acto quirurgico, se efectuo la oclusion ductal pancreatica con el agente mencionado. Los resultados (periodo de observacion de 23 dias) fueron favorables pues se obtuvo una sobrevida del 83,3%, contra el 100% de mortalidad del grupo no tratano Se hacen consideraciones sobre los probables mecanismos de accion del Ethibloc, y se plantea la hipotesis de si futura aplicacion terapeutica en el hombre

Traumatismos hepaticos. / Hepatic traumatisms

Se presenta un estudio basado en 38 pacientes con traumatismos hepaticos producidos por armas de fuego, poniendo enfasis en la ausencia de sintomatologia especifica y en el valor de la puncion abdominal.Su tratamiento es quirurgico, con hemostasia directa de los puntos sangrantes y eliminacion de los restos desvitalizados.Los autores puntualizan que deben evitarse las suturas en masa y la creacion de espacios muertos. Reconocen la utilidad de la maniobra de Pringle y el valor practico de las ligaduras de la arteria hepatica o de sus ramas a nivel del hilio (maniobra de eleccion). Insisten en el valor de los drenajes. Las complicaciones mas frecuentes han sido las septicas y las hemorragicas, necesitando reoperaciones en algunos casos