Trastornos del espectro alcohólico fetal: biomarcadores del consumo de etanol durante la gestación / Fetal alcohol spectrum disorders: biomarkers of ethanol consumption during pregnancy / Perturbações do espectro do alcoolismo fetal: biomarcadores de consumo de etanol durante a gravidez

El consumo de alcohol durante la gestación está asociado con un amplio espectro de efectos adversos conocidos como trastornos del espectro alcohólico fetal (TEAF). Así es como a través del dosaje de los esteres etílicos de ácidos grasos (FAEEs) en meconio, como biomarcadores de exposición prenatal al consumo de etanol, nos brinda una herramienta importantísima en el screening de los recién nacidos, facilitando la confi rmación del diagnóstico y la intervención clínica adecuada en los individuos afectados por esta problemática con una mejora en las expectativas y calidad de vida. El síndrome alcohólico fetal (SAF) representa el clásico síndrome y la manifestación más grave inducido por el alcohol de forma repetida durante el embarazo. Dado el carácter heterogéneo de las alteraciones clínicas presentes en los recién nacidos expuestos a etanol, la mayoría de los cuales no son específi cos, conlleva a un diagnóstico del TEAF extremadamente difícil.

Alcohol consumption during pregnancy is associated with a wide range of adverse effects known as fetal alcohol spectrum disorders (FASDs). Through the measurement of Fatty Acid Ethyl Esters (FAEEs) in meconium, as biomarkers of prenatal alcohol exposure, we have a very important tool in the screening of newborns, facilitating the confi rmation of diagnosis and adequate clinical intervention in individuals affected by this problem with improvements in life quality and expectancy. Fetal Alcohol Syndrome (FAS) represents the classic syndrome and the most serious condition is caused by repetitive alcohol consumption during pregnancy. Due to the heterogeneous characteristics of clinical alterations of newborns exposed to ethanol, most of which are not specifi c, diagnosis of FASDs is extremely diffi cult.

O consumo de álcool durante a gravidez é associado a um amplo espectro de efeitos adversos conhecidos, tais como transtornos do espectro do alcoolismo fetal (TEAF). É assim como através da dosagem dos ésteres etílicos de ácidos graxos (FAEEs) em mecô- nio, como biomarcadores de exposição pré-natal ao consumo de etanol, fornece uma ferramenta importantíssima na triagem de recém-nascidos, aprimorando a confi rmação do diagnóstico e a intervenção clínica adequada em indivíduos afectados por este problema com uma melhoria das expectativas e qualidade de vida. Síndrome alcoólica fetal (FAS) representa a síndrome clássica e a mais grave manifestação induzida frequentemente pelo álcool durante a gravidez. Dada a heterogeneidade das alterações clínicas em recémnascidos expostos ao etanol, a maioria das quais são não-específi cas, esta situação gera um diagnóstico de TEAF extremamente difícil.

Blood lead levels and enzymatic biomarkers of environmental lead exposure in children in Cordoba, Argentina, after the ban of leaded gasoline.

Lead (Pb) is a developmental neurotoxicant found in industrial activities, many of them already prohibited worldwide. This study aimed to evaluate current blood Pb (PbB) levels in children in Cordoba, Argentina, and to compare these with similar studies performed before Pb was banned in gasoline in 1996. We also sought to identify mechanistically relevant biomarkers by measuring δ-aminolevulinic acid dehydratase (δ-ALAD), superoxide dismutase (SOD), and catalase (CAT) activities. We finally aimed to determine whether sociodemographic characteristics are associated with Pb toxicity. Blood samples collected from 161 healthy children between September 2009 and February 2010 revealed mean PbB levels of 2.58 ± 0.30 µg/dl. Enzymatic δ-ALAD, CAT, and SOD activities showed no significant variations when plotted against PbB levels. Finally, children living in the suburbs have higher PbB levels than their city counterparts, while low socioeconomic status increased δ-ALAD inhibition compared with that of middle-income children. Overall, these results evidenced a substantial reduction in exposure to Pb in this pediatric population over a decade after Pb was restricted in gasoline and reveal the importance of pursuing novel biomarkers of toxicity along with the sociodemographic profile to complement Pb diagnosis.

The clinical importance of leukocyte depletion in regular erythrocyte transfusions.

Antilymphocyte, antigranulocyte and antiplatelet alloantibodies, T lymphocyte subsets, expression of HLA-DR antigens on T lymphocytes and NK cell function were determined in 11 homozygous beta-thalassemic children multitransfused ab initio with Erypur-filtered leukocyte-free red cell units (group A) and in 13 similar children multitransfused with standard packed red cell units (group B). No antibodies were found in group A patients, whereas 69% of group B patients were immunized. The two groups did not differ significantly with regard to the other test results. Considered together, thalassemia patients showed a percentage of T4+ cells and a NK cell function that were significantly lower than those found in a reference group of 16 healthy male blood donors. Thalassemics moreover showed a higher than normal percentage of T3+, T4+ and T8+ cells expressing HLA-DR antigens. The results indicate that leukocyte-free red cells should be the treatment of choice for prospective recipients of multiple transfusions, since they are capable of preventing (or delaying) the production of alloantibodies against leukocytes and platelets. From the data of the present study, it does not seem that the transfusion of leukocyte-free red cells is capable of preventing the abnormalities of some immunological tests that occur in some multitransfused patients. Further investigations, however, are needed to draw conclusions on this problem.

[Preliminary data on the endocrinologic evaluation of thalassemic adolescents]. / Dati preliminari sulla valutazione endocrinologica di adolescenti talassemici.

Endocrine disfunction are well known in young patients with thalassaemia major and are mainly due to iron overload. Gonadotrophin releasing hormone (GnRH) was administered to 13 boys aging more than 14 years and to 13 girls aging more than 13 years to assess pituitary function. Human Chorionic gonadotrophin (HCG) was also administered to 13 boys to evaluate their gonadal function. Most of the patients had evidence of pituitary hypofunction and in 4 boys there was evidence of gonadic failure. This study is mandatory for a correct therapeutic approach.

[Critical evaluation of the causes of death in thalassemic subjects]. / Valutazione critica delle cause di morte nei soggetti talassemici.

We discuss 25 cases of death observed from 1971 to 1983 in a casistic of 155 patients with Thalassaemic Syndrome. Anemia as a cause of death is disappearing, new triggers are involved such as Yersinia Enterocolitica who can cause severe sepsis even in non-splenectomized patients. Iron overload appears to be the most severe complication in the second decade.