Miopatía nemalínica: forma infrecuente de hipotonía neonatal / Nemaline myopathy: an uncommon form of neonatal hypotonia

La hipotonía neonatal constituye un reto diagnóstico, debido a la gran variedad de etiologías y de exploraciones complementarias necesarias para llegar a su diagnóstico. Clínicamente, se pueden agrupar en hipotonías paralíticas y no paralíticas; entre estas últimas encontramos el grupo de las miopatías congénitas, al que pertenece la miopatía nemalínica (MN).La MN es una enfermedad congénita no progresiva de la musculatura esquelética caracterizada por la presencia de bastoncillos o cuerpos nemalínicos en las fibras musculares. Presentamos el caso clínico de un recién nacido prematuro con sospecha de enfermedad neuromuscular, en el que se iniciaron estudios para un diagnóstico etiológico, que fueron normales. La biopsia muscular mostró los cuerpos nemalínicos característicos de la MN. La evolución clínica no fue satisfactoria; se realizó una traqueotomía a los 3 meses de vida y en la actualidad, a los 11 meses de vida, precisa ventilación domiciliaria con presión positiva continua en la vía respiratoria. El diagnóstico de MN requiere un alto índice de sospecha y la biopsia muscular como confirmación. En la actualidad no puede ofrecerse consejo genético en los casos esporádicos (AU)

Neonatal hypotonia constitutes a diagnostic challenge due to the wide variety of etiologies and the broad array of supplementary tests necessary to arrive at the correct diagnosis. Clinically, we can differentiate between paralyzing and non paralyzinghypotonia. Congenital myopathies, including nemaline myopathy, belong to the latter group. Nemaline myopathy is a non progressive congenital disorder of skeletal muscle, characterized by the presence of rod-like structures, or nemaline bodies, in muscle fibers. We report the case of a premature infant who was assessed on the suspicion of neuromuscular disease. The results of the initial diagnostic studies were normal, but muscle biopsy eventually revealed the rod-like structures characteristic of nemaline myopathy. The clinical course was unsatisfactory and, after undergoing tracheotomy at the age of three months, at the time of writing, he was ten months old and required home continuous positive airway pressure (CPAP) ventilation. The diagnosis of nemaline myopathy requires a high index of suspicion and the performance of a muscle biopsy. At the present time, genetic counseling cannot be provided in sporadic cases (AU)

[Ibuprofen versus indomethacin in the preterm persistent patent ductus arteriosus therapy: review and meta-analysis]. / Ibuprofeno frente a indometacina para el tratamiento de la persistencia del conducto arterioso del prematuro: revisión sistemática y metaanálisis.

INTRODUCTION: Persistent patent ductus arteriosus (PDA) is a common pathology in the preterm whose traditional treatment has been indomethacin. Recently, ibuprofen has shown its effectiveness in closing the PDA with less hemodynamic effects. The objective of this paper is to review the current literature in order to determine if there is any benefit of ibuprofen versus indomethacin in the PDA therapy. MATERIAL AND METHODS: Eleven trials comparing intravenous ibuprofen versus indomethacin in the treatment of PDA confirmed by echocardiography in < 35 weeks preterm or < 1,500 g birth weight were included. A meta-analysis of the trials data was performed. RESULTS: No trial show statistically significant differences in the failure of closing PDA, neither the meta-analysis (RR 0.96 [CI 95 %: 0.74-1.26], with a power of 0.995). No differences were found in the rate of reopening and surgical ligation. Complications were similar, except for a significant lower incidence of oliguria in the ibuprofen group (RR 0.23 [CI 95 %: 0.10-0.51]). There were no differences in the respiratory outcomes (RR of bronchopulmonary dysplasia (BPD) at 28 days 1.32 [CI 95 %: 0.99-1.76]). CONCLUSIONS: In our revision ibuprofen was as effective as indomethacin in closing PDA. No significant differences were found in the incidence of complications except for less renal impairment with ibuprofen. A higher risk of BPD in the ibuprofen group is not confirmed, although more studies are needed.

Ibuprofeno frente a indometacina para el tratamiento de la persistencia del conducto arterioso del prematuro: revisión sistemática y metaanálisis / Ibuprofen versus indomethacin in the preterm persistent patent ductu sarteriosus therapy: review and meta-analysis

Introducción El ductus arterioso persistente (DAP) es una patología frecuente en el recién nacido prematuro cuyo tratamiento tradicional ha sido la indometacina. Recientemente, el ibuprofeno ha mostrado ser eficaz en su cierre con menores efectos hemodinámicos. El objetivo de este trabajo es revisar la literatura disponible para determinar si existe alguna ventaja entre ambos fármacos en el tratamiento del DAP. Material y métodos Se incluyeron 11 ensayos que compararon ibuprofeno con indometacina en el tratamiento del DAP confirmado ecográficamente en prematuros de menos de 35 semanas o de menos de 1.500 g de peso al nacimiento. Se realizó un metaanálisis de los resultados aportados por los distintos estudios. Resultados Ningún estudio encontró diferencias significativas en el fracaso del cierre del DAP entre ambos fármacos, ni el metaanálisis tampoco (riesgo relativo [RR]: 0,96; intervalo de confianza [IC] del 95 %: 0,74 a 1,26], con un poder de 0,995). No hubo diferencias en la frecuencia de reaperturas ni de ligaduras quirúrgicas. Las complicaciones fueron similares, excepto una incidencia significativamente menor de oliguria en los tratados con ibuprofeno (RR: 0,23; IC 95 %: de 0,10 a 0,51). No se encontraron diferencias en la evolución respiratoria (RR de displasia broncopulmonar a los 28 días de 1,32; IC 95 %: de 0,99 a 1,76). Conclusiones En nuestra revisión, el ibuprofeno fue igual de eficaz que la indometacina en el cierre del DAP. No hubo diferencias en la incidencia de complicaciones excepto menores problemas renales con el ibuprofeno. No se confirma un mayor riesgo de displasia broncopulmonar en el grupo de ibuprofeno, aunque se necesitan más estudios al respecto

Introduction Persistent patent ductus arteriosus (PDA) is a common pathology in the preterm whose traditional treatment has been indomethacin. Recently, ibuprofen has shown its effectiveness in closing the PDA with less hemodynamic effects. The objective of this paper is to review the current literature in order to determine if there is any benefit of ibuprofen versus indomethacin in the PDA therapy. Material and methods Eleven trials comparing intravenous ibuprofen versus indomethacin in the treatment of PDA confirmed by echocardiography in < 35 weeks preterm or < 1,500 g birth weight were included. A meta-analysis of the trials data was performed. Results No trial show statistically significant differences in the failure of closing PDA, neither the meta-analysis (RR 0.96 [CI 95 %: 0.74-1.26], with a power of 0.995). No differences were found in the rate of reopening and surgical ligation. Complications were similar, except for a significant lower incidence of oliguria in the ibuprofen group (RR 0.23 [CI 95 %: 0.10-0.51]). There were no differences in the respiratory outcomes (RR of bronchopulmonary dysplasia (BPD) at 28 days 1.32 [CI 95 %: 0.99-1.76]). Conclusions In our revision ibuprofen was as effective as indomethacin in closing PDA. No significant differences were found in the incidence of complications except for less renal impairment with ibuprofen. A higher risk of BPD in the ibuprofen group is not confirmed, although more studies are needed

Quilotórax neonatal congénito y posquirúrgico: revisión y algoritmo diagnóstico-terapéutico / Congenital and postoperative chylothorax in newborns: review and diagnostic and therapeutic algorithm

El quilotórax se define como la acumulación de linfa en el espacio pleural. Realizamos un estudio retrospectivo durante un periodo de 14 años, en el que encontramos 15 casos de quilotórax neonatal: 6 congénitos y 9 posquirúrgicos. En los casos congénitos hubo dos casos de hydrops y uno se asoció a feblectasia congénita. Los posquirúrgicos fueron 4 tras cirugía cardiovascular y 5 tras cirugía de reparación de hernias diafragmáticas. La evolución fue buena en los 15 pacientes, con resolución del quilotórax. Todos los casos congénitos fueron diagnosticados prenatalmente mediante ecografía fetal, precisando todos reanimación profunda y/o ventifación mecánica tras el nacimiento. El diagnóstico fue confirmado mediante análisis del líquido pleural. El tratamiento inicial fue conservador en todos los casos, con drenaje del líquido pleural y soporte respiratorio, cardiovascular, hemodinámico y nutricional. Este tratamiento fue efectivo en el 80% de los casos, precisando cirugía sólo 3 quilotórax posquirúrgicos. No hemos encontrado diferencias significativas respecto a los volúmenes drenadas, los días de ventilación mecánica, los días de nutrición parenteral total, la duración del quilotórax y el porcentaje de complicaciones entre los casos congénitos y los posquirúrgicos. En el caso de los congénitos, es importante el diagnóstico prenatal para planificar una reanimación neonatal adecuada. Tras la revisión actual, proponemos un algoritmo de manejo de esta compleja patología

Chylothoraxis defined as an effusion of lymphin to the pleural cavity. In a retrospective study covering a 14-year period, we found 15 cases of chylothorax occurring during the neonatal period: 6 congenital and 9 postoperative. Congenital chylothorax was associated with hydrops in two cases and with congenital phlebectasia in one case. Postoperative chylothorax occurred after cardiovascula surgery in tour cases and after surgical repair of diaphragmatic hernia in five. The clinical outcome was good in all the patients. Congenital chylothorax was diagnosed by prenatal ultrasound, and mechanical ventilation was required after birth in every case. The diagnosis was confírmed by the analysis of the pleural fluid. Initial treatment was conservative, with continuous or intermittent drainage of chyle and respiratory, cardiovascular, hemodynamic and nutritional support, which was effective in 80% of the cases. Three patients with postoperative chylothorax required surgery for resolution. We have observed no significant differences between the two groups in terms of volume of Lymph drained, days on mechanical ventilation, days with total parenteral nutrition, duration of chylothorax or complications. Prenatal diagnosis is important for planning neonatal resuscitation. We propase an algorithm for the diagnosis and treatment of this complex entity

[Ibuprofen versus indomethacin in the treatment of patent ductus arteriosus in preterm infants]. / Ibuprofeno frente a indometacina en el tratamiento del conducto arterioso persistente del prematuro.

INTRODUCTION: Persistent patent ductus arteriosus (PDA) is a common entity in preterm infants. The most commonly used pharmacological treatment to close the ductus is indomethacin but it can affect cerebral, renal and mesenteric blood flow. Ibuprofen has recently been shown to be effective in closing PDA with fewer hemodynamic effects. In this study we compared the safety and efficacy of ibuprofen and indomethacin in the treatment of PDA in preterm infants. MATERIAL AND METHODS: A randomized trial was performed. Premature infants with symptomatic PDA confirmed by echocardiography in the first week of life and who required respiratory support were included. The patients were randomly assigned to receive either intravenous indomethacin or ibuprofen. The rate of ductal closure, need for additional treatment, complications, and clinical course were evaluated. RESULTS: Twenty-four patients were treated with indomethacin and 23 with ibuprofen. The clinical characteristics before treatment were similar in both groups. Both treatments were effective in closing PDA (87.5% in the indomethacin group and 82.6% in the ibuprofen group). The two cohorts did not differ in the rate of reopening, need for a second pharmacologic treatment, or surgical ductal ligation. No patient in the ibuprofen group developed gastrointestinal adverse effects, but two infants in the indomethacin group had isolated bowel perforation and one had necrotizing enterocolitis. Transient renal dysfunction developed in seven patients (29%) in the indomethacin group versus two (9%) in the ibuprofen group. Transient renal insufficiency was found in one patient in the indomethacin group and in none in the ibuprofen group. The rate of other complications was similar in both groups. CONCLUSIONS: In our trial ibuprofen was as effective as indomethacin in closing PDA. No significant differences were found in the incidence of complications but fewer renal complications and no gastrointestinal complications were found in the ibuprofen group.

Ibuprofeno frente a indometacina en el tratamiento del conducto arterioso persistente del premature / Ibuprofen versus indomethacin in the treatment of patient ductus arteriosus in preterm infants

Introducción. El conducto (ductus) arterioso persistente (DAP) es una enfermedad frecuente en el prematuro. La indometacina es el tratamiento más utilizado en su cierre, pero puede alterar el flujo cerebral, renal y mesentérico. Recientemente el ibuprofeno ha mostrado ser eficaz en el cierre del DAP con menores efectos hemodinámicos. Este estudio se realizó para comparar la eficacia y seguridad del ibuprofeno frente a la indometacina en el cierre del DAP en el prematuro. Material y métodos. Estudio aleatorizado que incluyó prematuros con DAP sintomáticos, diagnosticados mediante ecografía en la primera semana de vida, que precisaron soporte ventilatorio. Los pacientes fueron asignados aleatoriamente a indometacina o ibuprofeno por vía intravenosa. Se evaluó la tasa de cierre ductal, la necesidad de tratamiento adicional, las complicaciones y la evolución clínica. Resultados. Se trataron 24 pacientes con indometacina y 23 con ibuprofeno. Sus características clínicas previas al diagnóstico fueron similares. Ambos tratamientos se mostraron eficaces en el cierre, 87,5 % para la indometacina y 82,6 % para el ibuprofeno. Las dos cohortes no se diferenciaron en la frecuencia de reaperturas, necesidad de dos tandas de fármaco, ni proporción de ligaduras quirúrgicas. Ningún paciente tratado con ibuprofeno presentó enfermedad abdominal que sí apareció en el grupo de indometacina (dos perforaciones intestinales y una enterocolitis necrosante). Siete pacientes (29 %) del grupo de indometacina desarrollaron disfunción renal transitoria frente a 2 casos (9 %) en el de ibuprofeno. En el grupo de indometacina un paciente experimentó insuficiencia renal transitoria y ninguno en el de ibuprofeno. El resto de complicaciones fue similar en ambos grupos. Conclusiones. En nuestra serie el ibuprofeno se mostró igual de eficaz que la indometacina en el cierre del DAP. No hubo diferencias significativas en la incidencia de complicaciones entre ambos grupos, aunque los tratados con ibuprofeno tuvieron menos complicaciones renales y ninguna intestinal

Introduction. Persistent patent ductus arteriosus (PDA) is a common entity in preterm infants. The most commonly used pharmacological treatment to close the ductus is indomethacin but it can affect cerebral, renal and mesenteric blood flow. Ibuprofen has recently been shown to be effective in closing PDA with fewer hemodynamic effects. In this study we compared the safety and efficacy of ibuprofen and indomethacin in the treatment of PDA in preterm infants. Material and methods. A randomized trial was performed. Premature infants with symptomatic PDA confirmed by echocardiography in the first week of life and who required respiratory support were included. The patients were randomly assigned to receive either intravenous indomethacin or ibuprofen. The rate of ductal closure, need for additional treatment, complications, and clinical course were evaluated. Results. Twenty-four patients were treated with indomethacin and 23 with ibuprofen. The clinical characteristics before treatment were similar in both groups. Both treatments were effective in closing PDA (87.5 % in the indomethacin group and 82.6 % in the ibuprofen group). The two cohorts did not differ in the rate of reopening, need for a second pharmacologic treatment, or surgical ductal ligation. No patient in the ibuprofen group developed gastrointestinal adverse effects, but two infants in the indomethacin group had isolated bowel perforation and one had necrotizing enterocolitis. Transient renal dysfunction developed in seven patients (29 %) in the indomethacin group versus two (9 %) in the ibuprofen group. Transient renal insufficiency was found in one patient in the indomethacin group and in none in the ibuprofen group. The rate of other complications was similar in both groups. Conclusions. In our trial ibuprofen was as effective as indomethacin in closing PDA. No significant differences were found in the incidence of complications but fewer renal complications and no gastrointestinal complications were found in the ibuprofen group

[Nasal continuous positive airway pressure in preterm infants: comparison of two low-resistance models]. / Presión positiva continua en la vía aérea por vía nasal en el recién nacido prematuro: estudio comparativo de dos modelos de baja resistencia.

OBJECTIVE: To compare the safety and efficacy of two low expiratory resistance models of nasal continuous positive airway pressure (n-CPAP) in preterm infants. MATERIAL AND METHODS: A 1-year prospective trial was performed in the Neonatal Intensive Care Unit of La Fe Hospital to compare the Infant Flow (IF) and Medijet (MJ) devices. All preterm infants requiring n-CPAP for respiratory distress at birth (group I), infants weighting less than 1500 g requiring postextubation (group II) and those with apnea-bradycardia syndrome (ABS) (group III) were included. The patients were randomly assigned to IF or MJ. RESULTS: A total of 125 patients received 226 treatments (IF: n 5 126: MJ: n 5 110). The mean gestational age was 29.4 weeks and the mean birth weight was 1340 g.Efficacy. In group I (n 5 73) no difference were found between systems and 6 hours' after initiation of n-CPAP decreases in FiO2, CO2 and respiratory effort were similar. The need for intubation was also similar (IF: 34.6 %; MJ: 24.1 %). In group II (n 5 73) the need for reintubation at 48 hours was similar with both treatments (IF:19 %; MJ: 8 %). In group III (n 5 80) resolution of ABS was similar after 24 hours of n-CPAP (IF: 46 %; MJ: 58 %). The need for intubation was also similar (IF: 26 %; MJ: 10 %).Complications. Air leaks occurred in six preterm infants (IF: 4; MJ: 2). Severe abdominal distension occurred in 5 % with both systems. Five infants had significant nasal lesions (IF: 1; MJ: 4). CONCLUSIONS: The efficacy and safety of both systems was similar in the variables studied and no significant differences were found.

Presión positiva continua en la vía aérea por vía nasal en el recién nacido prematuro: estudio comparativo de dos modelos de baja resistencia / Nasal continuous positive airway pressure in preterm infants: comparison of two low-resistance models

Objetivo: Comparar la eficacia y seguridad de dos modelos diferentes de presión positiva continua en la vía aérea por vía nasal (CPAP-n) de baja resistencia, en recién nacidos pretérminos. Material y métodos: Estudio prospectivo realizado en cuidados intensivos neonatales del Hospital La Fe durante un año, comparando los sistemas Infant Flow (IF) y Medijet (MJ). Se incluyeron todos los pretérminos que precisaron CPAP-n por distrés respiratorio al ingreso (grupo I), postextubación en menores de 1.500 g al nacimiento (grupo II) y síndrome apneico-bradicárdico (grupo III); asignación aleatoria a uno u otro sistema. Resultados: Estudiamos 125 pacientes, que recibieron 226 tratamientos; 126 con IF y 110 con MJ. Media edad gestacional, 29,4 semanas, y peso al nacimiento, 1.340 g. Eficacia. Grupo I (n 73): no hubo diferencias entre los 2 modelos consiguiéndose a las 6 h del inicio de CPAP-n descensos de la fracción inspiratoria de oxígeno (FiO2), presión parcial de dióxido de carbono (pCO2) y esfuerzo respiratorio; necesidad similar de intubación y ventilación (34,6 por ciento IF y 24,1 por ciento MJ). Grupo II (n 73): porcentaje de reintubación semejante a 48 h (19 por ciento IF y 8 por ciento MJ). Grupo III (n 80): tras 24 h de CPAP-n desaparecieron las apneas en proporción similar (46 por ciento IF y 58 por ciento MJ); precisaron intubación y ventilación 24 por ciento del IF y 10 por ciento del MJ. Complicaciones. Escapes aéreos: 6 pacientes (4 IF y 2 MJ). Distensión abdominal grave: similar con ambos sistemas (5 por ciento). Lesión nasal significativa: 5 pacientes (1 IF y 4 MJ).Conclusiones Los dos sistemas de CPAP-n han sido efectivos y seguros en los supuestos estudiados, sin diferencias significativas en los resultados (AU)

Hypertrophic cardiomyopathy in preterm infants treated with dexamethasone.

UNLABELLED: Steroid therapy has been widely used in neonates for its beneficial effects. Adverse side-effects have been described, also affecting the cardiovascular system. We report two cases of hypertrophic cardiomyopathy in two preterm newborns secondary to dexamethasone treatment. Full recovery occurred after discontinuing steroids. Risk/benefit ratios must be carefully considered before using steroids in the neonatal period. CONCLUSION: Serial echocardiographic evaluations should be performed to evaluate prevalence and clinical relevance of hypertrophic cardiomyopathy in preterm infants treated with dexamethasone.

[Sepsis in neonate, A 291 cases study (author's transl)]. / Sepsis en el período neonatal. Comentarios a una serie de 291 casos.

A four-year experience with sepsis in the neonate is described. Clinical picture, laboratory data and mortality of 291 newborn, aged 0-28 days, are analyzed. The rise in the incidence of septicemia in the group of newborn with clinical onset within the first 24 hours of life and the preterm 5. degrees to 9. degrees day of life, was commented. The need to develop a more effective profilaxis toward the reduction of morbidity and mortality is emphasized.