Repercusión clínica de la alfa-talasemia en nuestro medio. Impacto del screeningneonatal / Clinical consequences of alpha-thalassemia in the basque country, Spain. Impact of neonatal screening

INTRODUCCIÓN: La alfa-talasemia es la hemoglobinopatía más frecuente de expresión clínica variable en función del número de alelos mutados (1-2 alelos mutados: asintomático/anemia leve, 3-4 alelos mutados: enfermedad grave). Desde mayo de 2011 se ha añadido el estudio de hemoglobinopatías al screening neonatal en la Comunidad Autónoma del País Vasco (CAPV). OBJETIVOS: Valorar el impacto de la alfa-talasemia en nuestro medio y la utilidad del screening neonatal en su detección. MÉTODO: Revisión de pacientes con estudio genético positivo para alfa-talasemia durante 2 años (2012-2013) y estudio de la edad al diagnóstico, etnia, resultados analíticos y tratamiento. RESULTADOS: Se realizó un estudio genético de alfa-talasemia a 107 pacientes, de los cuales 61 presentaron alguna mutación. El 62% tenía un alelo mutado y el 38%, 2 alelos. La edad media al diagnóstico fue de 31 años, con un 28% menores de 18 años. La mayoría eran de procedencia europea con un porcentaje no desdeñable de africanos (26%) y árabes (13%) Todos los pacientes estudiados estaban asintomáticos con anemia leve en el 28%. Dos pacientes fueron diagnosticados por screening neonatal. La mayoría de pacientes no requirió tratamiento o precisó ferroterapia. CONCLUSIONES: La presencia de una o 2 mutaciones en los genes alfa carece de repercusión clínica, y el único interés de su estudio es que permite el consejo genético. En nuestro entorno no hemos encontrado pacientes con 3-4 mutaciones ni con sintomatología grave. A diferencia de lo que ocurre con otras enfermedades, nuestros resultados no apoyan que el screening neonatal de alfa-talasemia tenga un impacto significativo en nuestro entorno

INTRODUCTION: Alpha-thalassemia is the most common hemoglobinopathy with a variable clinical manifestation depending on the number of allele mutations (asymptomatic/mild anemia if 1-2 allele mutations, severe disease if 3-4 allele mutations). A study was conducted from May 2011 on hemoglobinopathies found in the neonatal screening in the autonomous community of the Basque Country (CAPV). OBJECTIVES: To analyze the impact of alpha-thalassemia in this area and the effectiveness of its neonatal screening. METHODS: A review was made of patients with a positive gene study for alpha-thalassemia over a 2-year period (2012-2013) and an analysis was made of the age at diagnosis, ethnic group, analytical result, and treatment. RESULTS: The genetic study was performed on 107 patients, of which 61 had some mutation, with 62% having one allele mutations and 38% with two alleles. The mean age at diagnosis was 31 years, with 28% being younger than eighteen years old. Most of the patients were European with a significant number of Africans (26%) and Arabs (13%). All patients were asymptomatic, and 28% had mild anemia. Two patients were diagnosed by neonatal screening. Most of them did not need any treatment or only required iron therapy. CONCLUSIONS: The detection of one or two alpha gene mutations has no clinical impact, but allows genetic counseling. No patient was found with 3-4 mutations or severe symptoms in our region. Contrarily to the diagnosis of other diseases, our results does not support that routine neonatal screening for alpha-thalassemia has any clinical impact in our community

[Clinical consequences of alpha-thalassemia in the Basque Country, Spain. Impact of neonatal screening]. / Repercusión clínica de la alfa-talasemia en nuestro medio. Impacto del screening neonatal.

INTRODUCTION: Alpha-thalassemia is the most common hemoglobinopathy with a variable clinical manifestation depending on the number of allele mutations (asymptomatic/mild anemia if 1-2 allele mutations, severe disease if 3-4 allele mutations). A study was conducted from May 2011 on hemoglobinopathies found in the neonatal screening in the autonomous community of the Basque Country (CAPV). OBJECTIVES: To analyze the impact of alpha-thalassemia in this area and the effectiveness of its neonatal screening. METHODS: A review was made of patients with a positive gene study for alpha-thalassemia over a 2-year period (2012-2013) and an analysis was made of the age at diagnosis, ethnic group, analytical result, and treatment. RESULTS: The genetic study was performed on 107 patients, of which 61 had some mutation, with 62% having one allele mutations and 38% with two alleles. The mean age at diagnosis was 31 years, with 28% being younger than eighteen years old. Most of the patients were European with a significant number of Africans (26%) and Arabs (13%). All patients were asymptomatic, and 28% had mild anemia. Two patients were diagnosed by neonatal screening. Most of them did not need any treatment or only required iron therapy. CONCLUSIONS: The detection of one or two alpha gene mutations has no clinical impact, but allows genetic counseling. No patient was found with 3-4 mutations or severe symptoms in our region. Contrarily to the diagnosis of other diseases, our results does not support that routine neonatal screening for alpha-thalassemia has any clinical impact in our community.

Long chain W3 polyunsaturated fatty acids and lipid pattern in the mother and the newborn infant.

We studied 162 mother-neonate pairs to determine the relationship between w3 long chain polyunsaturated fatty acid (w3LCP) intake during pregnancy and their levels in the mother and the neonate, and the general lipid pattern in the mother and the neonate. A dietetic interview was performed to assess the w3LCP intake during pregnancy. In both mothers and neonates we studied the w3LCPs in plasma and erythrocyte phospholipids and also the general lipid profile (total cholesterol, HDL-c, LDL-c, triglycerides, apo A1 and apo B). The w3LCP intake assessed by the dietetic interview (0.74 +/- 0.52 g/day) did not correlated with any of the parameters of the general lipid pattern in mothers or neonates. In mothers, the w3LCP levels in plasma expressed in percentages showed a positive correlation with apo A1 and HDL-c, and a negative correlation with triglycerides and apo B. The w3LCPs levels in mothers showed an inconsistent and weak correlation with triglycerides and apo B in neonates. When w3LCPs levels were assessed in the neonates themselves a consistent positive correlation was found with triglycerides. We concluded that in the dietetic range of our population, the intake of w3LCPs was not associated to any changes in the general lipid pattern of mothers or neonates. Whereas the w3LCP levels in mothers were correlated with the changes in the general lipid pattern reported outside pregnancy, such correlations were not present in regard to the neonate general profile, whereas the newborn's w3LCP levels were correlated with triglycerides. We believe that the hypertriglyceridemia of pregnancy, the placenta and the peculiarities of fetal metabolism are the causes of the aforementioned findings.

Niveles de triglicéridos, colesterol y lipoproteínas en la madre y su recién nacido / Triglycerides levels, cholesterol and lipoproteins in the mother and their newborn

Se analiza en 162 parejas madre-neonato el perfil lipídico compuesto por los triglicéridos, el colesterol el HDL-c (colesterol unido a lipoproteínas de alta densidad), el LDL-c(colesterol unido a lipoproteínas de baja densidad), a las apolipoproteínas de A1 u B

Niveles de triglicéridos, colesterol y lipoproteínas en la madre y su recién nacido / Triglycerides levels, cholesterol and lipoproteins in the mother and their newborn

Se analiza en 162 parejas madre-neonato el perfil lipídico compuesto por los triglicéridos, el colesterol el HDL-c (colesterol unido a lipoproteínas de alta densidad), el LDL-c(colesterol unido a lipoproteínas de baja densidad), a las apolipoproteínas de A1 u B (AU)

Evaluation of five immunoassays for the determination of digoxin in serum.

Five immunoassays for the determination of digoxin have been evaluated (Digoxin II, Abbott; Cedia Digoxin XL, Microgenics; Coat-a-Count Digoxin, Diagnostic Procedure Corporation, DPC; "On-line" Digoxin, Roche Diagnostic Systems; EMIT 2000 Digoxin, Syva). Four of them required no sample pre-treatment. The methods included a radioimmunoassay, fluoroimmunoassay, two enzyme-immunoassays and a turbidimetric immunoassay: the last three mentioned were adapted to the Cobas Mira Plus. The intra- and inter-assay precision was lower than 9%, except for Microgenics. The calibration stability fluctuated from 120 days for Abbott to 27 days for the Roche test, 7 days for the Syva assay and 2 days for Microgenics. The DPC test was not assayed for calibration stability. The interference from "digoxin-like immunoreactive factor(s)" differed according to the assay. The highest interference was seen with Abbott and Microgenics, and the lowest with the DPC test. The comparison among all the methods offered values of "r" higher than 0.95 except Microgenics and Syva assays where "r" was 0.896. The results obtained with Roche and Microgenics were higher than 12% of the remaining assays.

[Pulmonary surfactant in experimental congenital diaphragmatic hernia]. / Surfactante pulmonar en la hernia diafragmatica congénita experimental.

This paper examines the amounts of tensoactive phospholipids in the lung tissue of rat fetuses treated with Nitrofen (TOK) and in control animals. The herbicide led to congenital diaphragmatic hernia (CDH) in some fetuses and to pulmonary hypoplasia (PH) in all. The amounts of phosphatidylcholine (PC), phosphatidylglycerol (PG), phosphatidylinositol (PI) and phosphatidylethanolamine (PE) per gram of fresh lung tissue were significantly increased in comparison with the control animals, those of phosphatidylserine (PS) and sphingomyelin (SM) were also increased, but not significantly. Fetuses with HP alone had intermediate values. These findings are in agreement with our previous demonstration of an excess of type II pneumocytes in this model, and point to the existence of some trouble of the secretion or release of surfactant in it; although they do no clarify whether the amount of alveolar surfactant is in fact decreased.

Treatment with probucol of children with familial hypercholesterolaemia.

Nine children with familial hypercholesterolaemia, age range 2 to 12 years, were treated with a low cholesterol diet and probucol (10 mg/kg/day). The year before, the children received, as only treatment, a low fat-cholesterol diet. During this period their mean plasma total cholesterol level fell from 8.2 +/- 1.45 mmol/l to 7.17 +/- 0.84 mmol/l (12.6%). This level was further reduced to 5.92 +/- 0.63 mmol/l (17.1%) after the addition of probucol. Plasma high density lipoprotein cholesterol levels were lowered in absolute terms but not in relation to total cholesterol. No apparent side effects were observed. However, the use of probucol should be restricted for the moment to severe cases of hypercholesterolaemia as the long-term excretion of the drug in children is not yet known.

[Normal fatty acid values in lipid fractions of plasma in the pediatric period]. / Valores normales de ácidos grasos en fracciones lipídicas del plasma en la época pediátrica.

A total of 40 blood samples (8 from umbilical cord, 12 from infants aged 0-2 years, and 20 from older children) have been analyzed. Fatty acid composition of different plasma lipidic fractions were determined. The differences showed between these age groups are described. Their possible use as standards for comparison with several disorders is proposed.