[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.

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.

[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.

Exposición prenatal a metanfetamina «shabú» / Prenatal exposure to metamphetamine «shabu»

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Implementación de un programa de corta estancia hospitalaria maternoinfantil / Early post-partum discharge program in a maternity unit

Objetivo: El objetivo del estudio fue analizar el perfil sociodemográfico y obstétrico, así como la incidencia de consultas y reingresos, de las mujeres acogidas a un programa de corta estancia puerperal en el hospital del estudio. Metodología: Se realizó un estudio descriptivo de las variables relativas al perfil sociodemográfico, el embarazo, el parto y el puerperio de las mujeres con parto vaginal y alta precoz antes de 48 horas en el Hospital del Mar (Barcelona), desde junio de 2017 a junio de 2019. Resultados: 188 mujeres (un 8,2% del total de partos vaginales) se acogieron a la corta estancia hospitalaria durante el periodo de estudio. El 53,7% (n= 101) eran de nacionalidad española, y el resto eran de 32 nacionalidades distintas más. El 74,5% (n= 140) habían tenido uno o más partos previos, y el 84,6% (159) eran gestantes sin riesgo. El 95,7% de las mujeres (n= 180) tuvieron partos eutócicos. Un 7% (n= 13) de mujeres tuvieron que consultar en el hospital durante la primera semana después del alta por diferentes motivos. Tuvieron que consultar e ingresar un 2,1% (n= 4) de los neonatos con alta precoz, todos ellos por ictericia. No hubo ningún reingreso materno. Conclusiones: El perfil de mujeres que se acogen al programa de alta precoz en el centro del estudio son gestantes de bajo riesgo y presentan menos complicaciones en el parto que el resto de la población. No hubo más complicaciones o readmisiones hospitalarias en las mujeres con alta precoz respecto al global de los partos del centro del estudio. La implementación de un programa de corta estancia puerperal en nuestra institución es un procedimiento seguro, pero aceptado por un perfil de mujeres específico. (AU)

Objective: The objective of the study is to analyze the different mothers and newborns profiles who attend this program, and to analyze the different readmission rates comparing to the overall population that come for the usual childbirth in the hospital. Methodology: A descriptive study was performed, analyzing socio-demographic, obstetrical and partum and post-partum outcomes in women who attended to an early post-partum discharge before 48h after a vaginal delivery in Hospital del Mar (Barcelona), from June 2017 to June 2019. Results: 188 women (8.2% of total of vaginal deliveries) had the early post-partum discharge, 53.7% (n= 101) were Spanish women, 74.5% (n= 140) of women had already children, and 84.6% (n= 159) had no obstetrical risk factors. 95.7% (n= 180) women had eutocic deliveries, 7% (n= 13) of mother had to readmission to the hospital after the early discharge during the first week. There was only a 2.1% (n= 4) of newborns with early discharge that need to readmission; all of them because of neonatal hyperbilirubinemia. Conclusions: Most of women who attend to an early post-partum discharge are low risk pregnancies and deliveries. There are no higher mother readmission rates respect to the overall population. The implementation of an early post-partum discharge in the maternity unit in the institution is a safe process, but still accepted by a specific maternal profile of women. (AU)

Macrostomía bilateral aislada congénita / Congenital isolated bilateral macrostomia

Introducción. Dentro de las malformaciones craneofaciales, la macrostomía bilateral aislada es una de las malformaciones más inhabituales, con una frecuencia del 0,3% de los niños con fisuras faciales. Consiste en una hendidura orofacial entre el maxilar superior y el inferior derivada de una alteración del primer arco branquial. Su etiología es desconocida, pero una de las teorías más establecidas es el error de fusión entre el maxilar superior y el inferior durante el desarrollo embrionario. Suele aparecer de manera aislada, sin estar asociada a otros defectos, en contraposición a la macrostomía unilateral, que normalmente forma parte de un síndrome específico. Observación clínica. Exponemos el caso de un recién nacido de sexo femenino que presenta a la exploración un alargamiento bilateral de la comisura bucal de un centímetro de longitud mostrando una apertura amplia, sin otra malformación externa asociada. Todas las exploraciones complementarias que se realizaron para detectar malformaciones asociadas fueron normales. La evolución el periodo neonatal fue correcta, salvo una succión débil en las primeras horas de vida que desapareció progresivamente. Comentarios. Es importante realizar una minuciosa exploración física y diferentes exploraciones complementarias, como ecografía transfontanelar y abdominal, serie ósea y ecocardiograma para encontrar otras anormalidades, en especial si es de presentación unilateral. El tratamiento es quirúrgico con una evolución favorable y donde el proceso de deglución y fonación está conservado(AU)

Introduction. Isolated bilateral macrostomia is one of the rarest malformations within the craniofacial defects, with a frequency of 0.3% of children with facial clefts. It is defined by the presence of an orofacial cleft between the upper and lower jawbone caused by an alteration of the first branchial arch. Its etiology is unknown but one of the most established theories is the error of fusion between upper and lower jaw during embryonic development. Usually it appears isolated, without being associated with other defects, in contrast to unilateral macrostomia, which most often presents in the context of a specific syndrome. Case report. We describe the case of a female newborn that presented a bilateral one-centimeter elongation of the mouth, showing a large opening without other associated external malformations. Imaging studies excluded internal malformations. The evolution was optimal in the neonatal period except for a weak suction in the first hours of life that gradually improved. Comments. In the presence of macrostomia, it is important to perform a thorough evaluation, including physical examination and imaging studies such as transfontanellar and abdominal ultrasound, echocardiography and skeletal series to evaluate for other abnormalities, especially in cases of unilateral presentation. Surgical treatment usually results in successful outcome with preservation of swallowing and phonation(AU)

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

Fundamento y objetivo: Desde que en 1994 se publicaron los resultados del estudio PACTG 076, la tasa de transmisión vertical del virus de la inmunodeficiencia humana (VIH) ha ido disminuyendo. La prevalencia de la infección entre las gestantes catalanas es del 0,17%, y en nuestro hospital del 0,5%, en 2005. Los objetivos del trabajo han sido: analizar el número de nuevos casos de infección por el VIH por transmisión vertical; detectar la importancia de los diferentes factores de riesgo; demostrar la importancia de identificar a las gestantes infectadas; objetivar el papel de la prueba rápida en sala de partos, y detectar los fallos en la prevención de la transmisión vertical. Pacientes y método: Se han incluido, de manera prospectiva, los 124 recién nacidos hijos de madre infectada por el VIH positiva nacidos en el Hospital del Mar, Barcelona entre 1996 y 2005, divididos en diferentes grupos para compararlos entre ellos. Resultados: Han resultado infectados 8, lo que supone un 6,45%. En el grupo de madres identificadas con profilaxis correcta, la tasa de transmisión fue del 3,6% y en el grupo posterior a 1999 del 3,8%. Cuando la profilaxis es correcta, hay un 30% más de gestantes con carga viral <1.000copias/ml. El modelo multivariado de regresión logística mostró como significativas dos variables: amniorrexis >4h y la no identificación de la gestante como infectada por el VIH. Conclusiones: La identificación de la gestante es un factor primordial para evitar la transmisión vertical. La prueba diagnóstica rápida del VIH en la sala de partos es fundamental para establecer medidas preventivas y evitar la transmisión vertical. Los porcentajes de profilaxis correcta son bajos y susceptibles de una gran mejoría (AU)

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 (AU)

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 / Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency

Fundamento y objetivo: Con los flujos inmigratorios se ha elevado la prevalencia de hemoglobinopatías y déficit de glucosa-6-fosfato deshidrogenasa (G6PD) en nuestra población. La probabilidad de encontrar en un individuo más de un defecto del eritrocito es elevada, lo que comporta una mayor heterogeneidad clínica y dificultades diagnósticas. El objetivo de este trabajo ha sido realizar el diagnóstico precoz de la anemia falciforme mediante cribado neonatal, analizar la prevalencia de herencia conjunta de alfatalasemia, déficit de G6PD y hemoglobina S e identificar los genotipos asociados. Pacientes y método: Se ha estudiado a 4.020 recién nacidos (RN) de población de riesgo y autóctona. El cribado neonatal de hemoglobinopatías se realizó mediante cromatografía líquida de alta resolución y el de déficit de G6PD mediante la técnica de la mancha fluorescente. Se analizó molecularmente la asociación entre el gen ßS y alfatalasemia con deleción ­3.7 Kb. Finalmente se estableció el genotipo de los casos de déficit de G6PD. Resultados: La prevalencia de anemia falciforme en población de riesgo fue de 1/475 RN, y la de déficit de G6PD, de 1/43 RN en población de riesgo y de 1/527 RN en población autóctona. La hemoglobina S se confirmó mediante ARMS (amplification refractory mutation system). La asociación entre el gen ßS y la alfatalasemia con deleción ­3.7 Kb fue de un 32,2%, y entre el gen ßS y el déficit de G6PD, de un 7%. Conclusiones: Se confirma la elevada prevalencia de la anemia falciforme y del déficit de G6PD en población de riesgo, así como la elevada heterogeneidad molecular de ambos defectos. El conocimiento de los genotipos asociados y su relación con la expresión clínica es de gran utilidad para establecer criterios adecuados de diagnóstico y pronóstico

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 ßS 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 ßS gene and alpha thalassaemia del-3.7 Kb was found in 32.2% of the samples, and an association between ßS 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