PubMed Health⌕ Search

Biomedical subjects

E C Neto

Publications and source records attributed to E C Neto.

14 recordsLinked to original sources
PubMed2005

High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism.

The objective of this study was to evaluate the prevalence of major congenital malformations in a cohort of children with permanent primary congenital hypothyroidism (PCH). This cross-sectional study was conducted in 76 consecutive, unselected children with PCH recruited from a district hospital outpatient clinic. Malformations were identified by clinical examination. The prevalence of major congenital malformations in these patients was compared with the prevalence of malformations in children born at Hospital de Clínicas de Porto Alegre (HCPA). The etiology of hypothyroidism was established by scintigraphy and ultrasonography. Hypothyroidism was caused by thyroid dysgenesis in 67 patients (one case of hemiagenesis, 24 of ectopia, and 42 of agenesis); the gland was normally located and shaped in nine patients. Ten patients (13.2%) had major congenital malformations (1,316/10,000 patients), mostly cardiac. Malformations were observed only in patients with dysgenesis: thyroid agenesis (n = 7) and sub-lingual ectopic thyroid (n = 3). The prevalence of malformations was significantly higher (RR = 2.6; CI 95%: 1.3-4.8; p = 0.005) in this group than in HCPA newborns (509/10,000 patients). In conclusion, a high rate of extrathyroid congenital malformations, mostly cardiac, was found for patients with permanent PCH, especially thyroid dysgenesis. The present data support the existence of an association between CH and increased prevalence of congenital malformations.

Brazil↗
PubMed2004

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% of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% 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%). 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.

Biotinidase Deficiency↗
PubMed2000

High prevalence of congenital toxoplasmosis in Brazil estimated in a 3-year prospective neonatal screening study.

BACKGROUND: A pilot neonatal screening programme revealed a high (approximately 1 per 4800 live births) prevalence of congenital toxoplasmosis (CT) in the State of Rio Grande do Sul, Brazil. The purpose of this paper was to estimate in a larger prospective study the prevalence of CT in the country. METHODS: At the beginning of the study, an in-house indirect enzyme immunoassay (EIA) was used, to be later replaced with a commercial capture IgM fluorometric enzyme immunoassay (FEIA). Both methods detect specific anti-Toxoplasma gondii IgM-class antibodies eluted from dried blood spots. RESULTS: Of the total of 140,914 samples received from all over the country, 47 cases were identified and confirmed as CT. This finding suggests a prevalence of 1 per 3000 live births. Of the 47 patients, only eight (17%) had clinical manifestations: two had intracranial calcifications, four had retinal scars, one had an intracranial calcification and retinal scars, and one had hepatosplenomegaly with lymphoadenopathy. The testing was paid for by the patients' families who volunteered for the study and gave their informed consent. CONCLUSION: The 3-year prospective study using sensitive detection methods, reliable confirmation, and feedback from clinicians showed that CT has an extraordinarily high prevalence in Brazil, in fact the highest ever reported in the world. Although the long-term efficacy of treatment of CT has not been well documented, in view of the availability of reliable diagnostics, confirmation and monitoring, functional logistics, and networking for screening, the insidious nature of the sequelae and the very high prevalence of the disease, neonatal screening for CT should be considered an alternative to no screening at all.

Animals↗
PubMed1999

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.

Chromatography, Thin Layer↗
PubMed1999

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.

Brazil↗
PubMed1999

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.

Animals↗
PubMed1999

G6PD deficiency in an unselected Brazilian population.

Data about glucose-6-phosphate dehydrogenase (G6PD) deficiency are not available in Brazil, a country characterized by a great mix of races. The disease is associated with ethnic groups. High prevalence (5 to 25%) has been reported in Africa, Asia, Middle East and the Mediterranean. We present here the first report of our one year experience testing for G6PD in an unselected population in the south of Brazil.

Brazil↗
PubMedDate not supplied

[Applications of videolaparoscopic surgery in children]

OBJECTIVES: To present the videolaparoscopies performed by the Childreńs Surgery Service, and study the main indications for pediatric laparoscopic surgeries, considering advantages and disadvantages over conventional open procedures. METHODS: Retrospective analysis of 612 videolaparoscopies in children aged between 8 days and 17 years treated from November/95 to 2000. Basic principles of videolaparoscopy and the postoperative management of several pediatric diseases are described. The results, advantages, and complications were analyzed after a 5-year follow-up period. RESULTS: Laparoscopic surgery allowed for a wide series of abdominal procedures conventionally carried out through open surgery, mainly for the treatment of gastroesophageal reflux disease, inflammatory acute abdomen, adhesive intestinal obstruction, biliary lithiasis, tumors, cryptorchidism, ovarian diseases, splenectomies, aganglionosis, trauma and others. Morbidity was low (1%), and mortality due to laparoscopy was nonexistent. Conversion to laparotomy occurred in only 14 cases (2.3%), mainly because of trauma. The principal advantages included minimal surgical trauma, pain and reflex ileum, short hospital stay, almost no incisional hernias and better cosmetic scars. CONCLUSIONS: Videolaparoscopy seems to be a great advance in modern pediatric surgery, allowing safer and less invasive treatment of a wide series of abdominal diseases at all pediatric ages.

Journal Article↗
PubMedDate not supplied

[Management of a case of maple syrup urine disease--the use of gluco-insulinotherapy].

We report here the treatment and poor outcome of a case of Maple Syrup Urine Disease with late diagnosis and retrieval (2 and 5 months, respectively). As the proband had quite high levels of plasmatic leucine (1956 micromol/L for a normal upper limit of 77), we started immediately with a gluco-insulin therapy to produce anabolism in the infant. When leucine has fallen to 275.3 micromol/L, we instituted feeding with branched chain amino acid-free protein and high energy from carbohydrates. After reviewing briefly the clinical, biochemical and therapeutic aspects of this disorder, we comment on the great difficulties of making early diagnosis and of obtaining the specific dietetic formulas to Maple Syrup Urine Disease, in Brazil.

English Abstract↗