[HIV-mother-to-child transmission in a tertiary hospital in the era of generalization of preventive interventions]. / Transmisión vertical global del virus de la inmunodeficiencia humana en la época de la generalización de las medidas preventivas.

BACKGROUND AND OBJECTIVE: Since 1994, when the PACTG 076 results were published, the rate of vertical transmission has decreased from 25% to 2%. Nowadays the prevalence of HIV infection in Catalan pregnant women is 0.17% yet it is 0.5% in our hospital. Our objectives were: to analyze the number of new cases of HIV infection by vertical transmission; to determine the importance of risk factors; to prove how important is to identify HIV-infected pregnant women; to determine the role of the rapid HIV-1 testing in labour room; and to detect mistakes in the prophylactic strategies. PATIENTS AND METHOD: One hundted and twenty four newborns from HIV-infected pregnant women born in Hospital del Mar were prospectively followed from 1996-2005. All them were separated in different groups in order to compare them. RESULTS: Eight children were infected, corresponding to 6.45%. In the group of newborns whose mothers were identified as infected during pregnancy, even with prophylactic measures well done, the transmission rate was 3.6% and it was 3.8% in the group born after 1999. When the prophylactic strategies were correct, 30% of pregnant women reached delivery with HIV RNA <1,000/ml copies. In the multivariate analysis, two variables were significant: amniorrhexis >4h and lack of identification of pregnant women as being HIV positive. CONCLUSIONS: The identification of HIV-pregnant women has been crucial to avoid HIV mother-to-child transmission. Rapid HIV-1 testing in labour room is key to set up preventive strategies in order to avoid the infection in the newborn. Adequate prophylaxis percentages are still low and improvement is needed.

[Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency]. / Cribado neonatal de hemoglobinopatías y déficit de glucosa-6-fosfato deshidrogenasa (G6PD) en Cataluña. Estudio molecular de la anemia falciforme asociada a alfatalasemia y déficit de G6PD.

BACKGROUND AND OBJECTIVE: The prevalence of hemoglobinopathies and glucose-6-phosphate dehidrogenase (G6PD) deficiency in the Catalan neonatal population is increasing due to immigration. Coinheritance of more than a single RBC genetic defect is becoming more frequent and diagnostic pitfalls are also increasing. We intended to demonstrate the need to perform an early diagnosis of sickle cell disease (SCD) by means of neonatal screening, to establish the prevalence of SCD associated with alpha thalassemia and G6PD deficiency and to identify genotypes associated with sickle cell disease and G6PD deficiency. PATIENTS AND METHOD: 4,020 blood samples from newborns were screened. For the screening of hemoglobinopathies the high performance liquid chromatography method was used and for G6PD deficiency the fluorescent spot test was employed. We studied the association between betaS gene and alpha thalassaemia del-3.7 Kb. SCD and G6PD deficiency genotypes were established. RESULTS: Prevalence of SCD in population at risk was 1/475 newborns. Prevalence of G6PD deficiency in population at risk was 1/43, and in autochthonous population was 1/527 newborns. In all the cases, sickle hemoglobin was confirmed by ARMS (amplification refractory mutation system). Association between betaS gene and alpha thalassaemia del-3.7 Kb was found in 32.2% of the samples, and an association between betaS gene and G6PD deficiency was observed in 7% of the samples. CONCLUSIONS: This study confirms the high prevalence of SCD and G6PD deficiency in population at risk as well as their genetic and clinical heterogeneity. The study of genotype/phenotype relationships allows a better knowledge of molecular mechanism and is useful to establish suitable criteria of diagnosis.

Confirmation of gestational exposure to alprazolam by analysis of biological matrices in a newborn with neonatal sepsis.

BACKGROUND: Different biological matrices are suitable for drug testing in newborns presenting with an acute withdrawal syndrome. CASE REPORT: The newborn of a mother reporting alprazolam use during pregnancy presented with respiratory distress and clinical features consistent with neonatal withdrawal syndrome or neonatal sepsis of vertical transmission. Alprazolam and its main metabolite (alpha-hydroxyalprazolam) were detected in cord serum, neonatal urine and also in neonatal hair, meconium and placenta, accounting for both acute and chronic exposure to this benzodiazepine during intrauterine life. At the same time, the clinical diagnosis of neonatal sepsis was confirmed by isolation of Streptococcus agalactiae from otic cultures. The infant received oxygen therapy and antibiotic treatment and recovered completely at the age of 11 days. Although no congenital anomalies or behavioral alterations were diagnosed during hospitalization, periodic follow-ups were requested to check for potential long-term effects of prenatal exposure to alprazolam.