Diagnóstico prenatal de las cardiopatías congénitas / Prenatal diagnosis of congenital heart diseases

El desarrollo de la ecocardiografía fetal en los últimos años ha convertido a esta técnica en la principal modalidad para el diagnóstico y abordaje prenatal de la patología cardiaca fetal. El ecocardiograma nos permite diagnosticar la existencia de problemas estructurales, además de inferir e! mecanismo e!ectrofisiológico de las arritmia s fetales, así como la necesidad de iniciar el tratamiento médico en caso de ser este necesario. En esta monografía se presentan los resultados acaecidos en nuestro centro en los últimos 11 años. Se realizaron en la Sección de Cardiología Pediátrica de nuestro centro 6.246 ecocardiografías fetales. La edad materna fue 31 +/- 5 años y la edad gestacional en e! momento de la prueba de imagen de 24 +/- 5 semanas. Se detectaron un total 317 cardiopatías congénitas lo que representa un 5,07% de todas las exploraciones. Las cardiopatías congénitas diagnostícadas más frecuentementediagnosticadas fueron la comunicación interventricular ICIV) en un 31,5% de los casos, seguida de la tetralogía de Fallot en un 13,8% de los casos y de! síndrome de corazón izquierdo hipoplásico con un 13,5% de los casos. En conclusión la ecocardiografía fetal permite e! diagnóstico preciso de la mayor parte de las cardiopatías congénitas permitiendo realizar un diagnóstico preciso, establecer el pronóstico y preparar la estrategia adecuada (AU)

The development of the fetal echocardiography in recent years has con verted this technique in the main modality for prenatal diagnosis and approach of fetal heart disease. The echocardiogram allows us to diagnose the existence of structural problems and to deduce the e!ectrophysiological mechanism of fetal arrhythmias as well as the need to initiate medical treatment if necessary. The results occurring in our center in the last 11 years in are presented in this monograph. A total of 6246 fetal echocardiographies were performed in the pediatric cardiology section of our center. Maternal age was 31 +/- 5 years and gestational age at the time of the imaging test was 24 +/- 5 weeks. A total of 317 congenital heart diseases were detected, this representing 5.07% of all the studies. The congenital Heart diseases most frequently diagnosed were interventricular communication in 31.5% of the cases followed by Fallot's Tetralogy in 13.8% of the cases and hypoplastic left heart syndrome accounting for 13.5% of the cases. In conclusion, fetal echocardiography permits the precise diagnosis of most of the congenital heart diseases, making it possible to perform an exact diagnosis, establish the prognosis and prepare the adequate strategy (AU)

Atrofia muscular espinal: revisión de nuestra casuística en los últimos 25 años / Infantile spinal atrophy: Our experience in the last 25 years

OBJETIVOS: Conocer la incidencia de la atrofia espinal infantil (AME) en nuestra población y estudiar la distribución genética y las características epidemiológicas y clínicas, el nivel de cuidados y su evolución. MATERIAL Y MÉTODO: Estudio descriptivo retrospectivo de los pacientes atendidos en nuestro hospital en los últimos 25 a˜nos (1987-2013), con diagnóstico clínico y neurofisiológico de AME. RESULTADOS: Se halló a 37 pacientes, lo que supone una incidencia aproximada de 1/10.000 recién nacidos vivos. Predominaba el sexo masculino (relación varón/mujer: 1,6/1). El tipo de AME diagnosticado más frecuentemente fue el tipo I (26 casos), seguido del tipo II (9 casos), un caso de AME tipo III, y otro caso de spinal muscular atrophy with respiratory distress type 1 (SMARD 1). La alteración genética más frecuente fue la deleción en homocigosis de exones 7 y 8 del gen SMN1, en 31 casos, mientras que 5 pacientes presentaban una genética atípica. La mediana de supervivencia para el tipo I fue de 8,0 meses y de 15,8 años para el tipo ii. CONCLUSIONES: La incidencia en nuestra población permanece estable en torno a 1/10.000. La mayoría de los casos presenta una genética típica con predominio de varones. En aproximadamente 1/10 pacientes la alteración genética fue diferente de la clásica. La prevalencia de AME no relacionadas con el gen SMN fue de 1/37. El nivel de cuidados se ha incrementado en los últimos años, en consonancia con las demandas sociales y asistenciales

OBJECTIVES: To determine the incidence of spinal muscular atrophy (SMA) in our study population and genetic distribution and epidemiological and clinical characteristics and to analyze the level of care and development. MATERIAL AND METHOD: Retrospective descriptive study of patients treated in our hospital in the past 25 years (from 1987 to early 2013), with a clinical and neurophysiological diagnosis of SMA. RESULTS: A total of 37 patients were found, representing an incidence for our reference population and year of 1 case per 10,000 live births. Males predominated (male/female ratio: 1.6/1). The type of SMA diagnosed more frequently was, type I (26 cases), followed by type II (9 cases), one case with SMA type III, and one case of spinal muscular atrophy with respiratory distress type 1 (SMARD1). The most frequent genetic alteration was homozygous deletion of exons 7 and 8 of SMN1 gene in 31 cases, while five patients had atypical genetics. The median survival for type I was 8.0 months and 15.8 years for type ii. CONCLUSIONS: The incidence in our population remains stable at around 1/10.000. Most cases presented with, predominantly male, typical genetics. In approximately 1/10 patients the genetic alteration was different from the classical one to the SMN gene. The prevalence of AME unrelated SMN gene was 1/37. The level of care has increased in line with social and welfare demands in recent years

Mielitis transversa focal posvaricelosa tardía: a propósito de un caso. Revisión y puesta al día / Focal delayed post-chickenpox myelitis. Case report. A review and update

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[Infantile spinal atrophy: our experience in the last 25 years]. / Atrofia muscular espinal: revisión de nuestra casuística en los últimos 25 años.

OBJECTIVES: To determine the incidence of spinal muscular atrophy (SMA) in our study population and genetic distribution and epidemiological and clinical characteristics and to analyze the level of care and development. MATERIAL AND METHOD: Retrospective descriptive study of patients treated in our hospital in the past 25 years (from 1987 to early 2013), with a clinical and neurophysiological diagnosis of SMA. RESULTS: A total of 37 patients were found, representing an incidence for our reference population and year of 1 case per 10,000 live births. Males predominated (male/female ratio: 1.6/1). The type of SMA diagnosed more frequently was, type i (26 cases), followed by type ii (9 cases), one case with SMA type iii, and one case of spinal muscular atrophy with respiratory distress type 1 (SMARD1). The most frequent genetic alteration was homozygous deletion of exons 7 and 8 of SMN1 gene in 31 cases, while five patients had atypical genetics. The median survival for type i was 8.0 months and 15.8 years for type ii. CONCLUSIONS: The incidence in our population remains stable at around 1/10.000. Most cases presented with, predominantly male, typical genetics. In approximately 1/10 patients the genetic alteration was different from the classical one to the SMN gene. The prevalence of AME unrelated SMN gene was 1/37. The level of care has increased in line with social and welfare demands in recent years.

[Advances in the treatment of secondary osteoporosis]. / Avances en el tratamiento de la osteoporosis secundaria.

Osteoporosis is being increasingly recognised in paediatric practice as a consequence of the increasing life expectancy of children who suffer from chronic diseases and other factors. There are many non-pharmacological measures that can improve children' bone health, for example, avoiding inflammatory activity and osteotoxic treatments; increasing sun exposure and weight-bearing exercise, and maintaining an adequate nutritional status. Vitamin D and calcium supplements have been proposed as a measure to increase bone mass, but their effect and therapeutic indications are not completely clear. On the other hand, bisphosphonates are currently the only pharmacological alternative for the patients with infantile secondary osteoporosis. However, more studies are required on the therapeutic indications, posology, and long term secondary effects of biphosphonates. The aim of this article is to analyze the scientific evidence of the effectiveness of the therapeutic alternatives for childhood secondary osteoporosis and their safety in children.

¿Es la actitud expectante en el síndrome de Gorham una opción terapéutica? / Is the wait-and-see approach in Gorham syndrome a therapeutic option?

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Validación de una escala clínica de severidad de la bronquiolitis aguda / Validation of an acute bronchiolitis severity scale

INTRODUCCIÓN: La bronquiolitis aguda (BA) es una enfermedad muy prevalente, con una elevada tasa de hospitalización estacional. Su manejo requiere de interpretaciones clínicas homogéneas, para lo cual existen diversas aproximaciones a través de escalas, ninguna de la cuales están validadas en la actualidad. OBJETIVO: Creación de una Escala de Severidad de la BA (ESBA) y su validación. MATERIAL Y MÉTODO: Elaboración de un constructo con parámetros graduales de puntuación acumulativa de la frecuencia respiratoria, frecuencia cardiaca, esfuerzo respiratorio, auscultación de sibilancias y crepitantes y relación inspiración/espiración. Validación de la ESBA sobre pacientes diagnosticados de BA; la fiabilidad medida a través de la observación del comportamiento de su consistencia interna, test-retest, validez externa y concordancia interobservadores. RESULTADOS: Sobre un total de 290 mediciones, se obtuvo una fiabilidad para un alfa de Cronbach del 0,784, índice de acuerdo Kappa del 0,93 en el test-retest y un índice de acuerdo Kappa del 0,682 (α<0,05) para la concordancia entre observadores. CONCLUSIONES: La ESBA puede ser un instrumento de fiable para medir la gravedad de la BA

INTRODUCTION: Acute bronchiolitis (AB) is a very common disease, with a high rate of seasonal hospitalization. Its management requires homogeneous clinical interpretations for which there are different approaches depending on the scales, none of which are properly validated today. OBJECTIVE: To create an AB severity scale (ABSS) and to validate it. MATERIAL AND METHOD: The development of a parameterized construct with a gradual cumulative score of respiratory rate, heart rate, respiratory effort, auscultation of wheezing and crackles, and the inspiration/expiration ratio. Also, the validation of the ABSS performed on patients diagnosed with AB, the reliability measured by observing the behavior of internal consistency, test-retest, external validity and inter-observer agreement. RESULTS: From a total of 290 measurements a Cronbach's reliability alpha of 0.83 was obtained; Kappa agreement index of 0.93 in the test-retest agreement, and Kappa index of 0.682 (α<0.05) for inter-observer agreement. CONCLUSIONS: The ABSS can be a reliable tool for measuring the severity of AB

Crisis febriles complejas: estudio de la patología asociada y utilidad de las pruebas complementarias / Complex febrile seizures: Study of the associated pathology and practical use of complementary tests

INTRODUCCIÓN: Un tercio de las crisis febriles son complejas. Su manejo no ha suscitado un consenso como en el caso de las crisis febriles simples. El objetivo de este estudio es estimar la rentabilidad de los exámenes complementarios y el riesgo de enfermedad intracraneal grave asociada. PACIENTES Y MÉTODOS: Estudio retrospectivo desde el año 2003 hasta el 2011 de los pacientes ingresados en un hospital de tercer nivel con criterios de convulsión febril compleja de 6 meses a 6 años, excluyendo los casos con afección neurológica previa. De los pacientes seleccionados, se recogieron variables epidemiológicas, clínicas, pruebas complementarias y complicaciones. RESULTADOS: Se encontró a 65 pacientes (31 mujeres y 34 varones) de los cuales 44 tuvieron crisis repetidas en las primeras 24 h y 15 presentaron crisis focales. El 90% de la recurrencia ocurrió antes de 15 h. La edad media fue de 20,7 meses y la temperatura fue de 39,1 ± 0,12 ° C . En ningún paciente se encontró afección intracraneal grave durante su ingreso. El electroencefalograma no ofreció información de ayuda para su diagnostico. La neuroimagen fue normal en todos los casos estudiados. CONCLUSIONES: La incidencia de complicaciones en la convulsión febril compleja en nuestra serie no justificó el ingreso ni el estudio sistemático con pruebas complementarias cuando la exploración neurológica era normal. El electroencefalograma de rutina no parece estar justificado

INTRODUCTION: Although one third of febrile seizures are complex, a consensus has still not been reached on how to manage them, as is the case with simple febrile seizures. The objective of this study is to estimate the usefulness of complementary examinations and the risk of associated serious intracranial pathology. PATIENTS AND METHODS: A retrospective review was conducted from 2003 until 2011 on patients from 6 months to 6 years presenting with a complex febrile seizure admitted to a tertiary care hospital, excluding the cases with previous neurological disease. Epidemiological and clinic variables were collected, as well as complementary tests and complications. RESULTS: We found 65 patients (31 females and 34 males), of whom 44 had repeated seizures in the first 24 hours, with 15 having focal seizures. The vast majority (90%) of the recurrences occurred before 15 hours. The mean age was 20.7 months and temperature was 39.1±0.12 ◦C. None of the patients had severe intracranial pathology. The electroencephalogram gave no helpful information for the diagnosis. Neuroimaging was normal in all studied cases. CONCLUSIONS: The incidence of complications in complex febrile seizure in our series did not justify the systematic admission or the systematic study with complementary tests when the neurological examination was normal. The routine electroencephalogram does not appear to be justified

[Validation of an acute bronchiolitis severity scale]. / Validación de una escala clínica de severidad de la bronquiolitis aguda.

INTRODUCTION: Acute bronchiolitis (AB) is a very common disease, with a high rate of seasonal hospitalization. Its management requires homogeneous clinical interpretations for which there are different approaches depending on the scales, none of which are properly validated today. OBJECTIVE: To create an AB severity scale (ABSS) and to validate it. MATERIAL AND METHOD: The development of a parameterized construct with a gradual cumulative score of respiratory rate, heart rate, respiratory effort, auscultation of wheezing and crackles, and the inspiration/expiration ratio. Also, the validation of the ABSS performed on patients diagnosed with AB, the reliability measured by observing the behavior of internal consistency, test-retest, external validity and inter-observer agreement. RESULTS: From a total of 290 measurements a Cronbach's reliability alpha of 0.83 was obtained; Kappa agreement index of 0.93 in the test-retest agreement, and Kappa index of 0.682 (α<0.05) for inter-observer agreement. CONCLUSIONS: The ABSS can be a reliable tool for measuring the severity of AB.

[Complex febrile seizures: study of the associated pathology and practical use of complementary tests]. / Crisis febriles complejas: estudio de la patología asociada y utilidad de las pruebas complementarias.

INTRODUCTION: Although one third of febrile seizures are complex, a consensus has still not been reached on how to manage them, as is the case with simple febrile seizures. The objective of this study is to estimate the usefulness of complementary examinations and the risk of associated serious intracranial pathology. PATIENTS AND METHODS: A retrospective review was conducted from 2003 until 2011 on patients from 6 months to 6 years presenting with a complex febrile seizure admitted to a tertiary care hospital, excluding the cases with previous neurological disease. Epidemiological and clinic variables were collected, as well as complementary tests and complications. RESULTS: We found 65 patients (31 females and 34 males), of whom 44 had repeated seizures in the first 24 hours, with 15 having focal seizures. The vast majority (90%) of the recurrences occurred before 15 hours. The mean age was 20.7 months and temperature was 39.1 ± 0.12°C. None of the patients had severe intracranial pathology. The electroencephalogram gave no helpful information for the diagnosis. Neuroimaging was normal in all studied cases. CONCLUSIONS: The incidence of complications in complex febrile seizure in our series did not justify the systematic admission or the systematic study with complementary tests when the neurological examination was normal. The routine electroencephalogram does not appear to be justified.

[Domiciliary parenteral antibiotic therapy: a prospective analysis of the last 12 years]. / Tratamiento antimicrobiano parenteral domiciliario: análisis prospectivo de los últimos 12 años.

OBJETIVES: Parenteral antibiotic treatment has been classically developed in hospitals and is considered as a hospital procedure. The development of Hospital at Home Units (HHU) has led to an increase in outpatient parenteral antibiotic therapy (OPAT) in paediatrics patients. The objective of this study is to describe our experience, as an HHU integrated within a Paediatric Department, in home antimicrobial therapy over a period of 12 years. PATIENTS AND METHODS: This prospective and descriptive study included every patient with a disease requiring parenteral antimicrobial therapy who was admitted to our HHU from January 2000 to December 2012. RESULTS: During the study there were 163 cases on OPAT. The mean age of the patients was 11.1 years, and the sample group was comprised of 33 males and 22 feamales. The main sources of the treated infections were respiratory tract (76%), catheter-related bloodstream (9.2%), and urinary tract infections (5.5%). Amikacin was the most widely used antibiotic. Almost all treatments (96.6%) were via an intravenous route. Catheter-associated complications were more common than drug-associated complications. Successful at-home treatment was observed in 90.2% of cases. CONCLUSIONS: OPAT is a good and safe alternative in many paediatric diseases.

Crisis convulsivas asociadas a gastroenteritis: estudio de incidencia y análisis clínico / Gastroenteritis-related seizures: study of incidence and clinical analysis

Introducción: Las convulsiones benignas asociadas a gastroenteritis aguda (GEA) han sido reconocidas con mayor frecuencia, hasta el punto de haberse postulado como una entidad independiente dentro del apartado de convulsiones situacionales no epilépticas. El objetivo del presente estudio es determinar la incidencia anual en la población de referencia de nuestro centro y la caracterización clínica de las convulsiones benignas asociadas a GEA con y sin fiebre. Pacientes y método: Se recogieron de forma prospectiva todas las crisis convulsivas asociadas a GEA y sus características, atendidas en nuestro hospital a lo largo de 2 años naturales. Se incluyó a niños de entre 6 meses y 6 años con crisis convulsivas en el contexto de una GEA sin alteraciones electrolíticas en 2 grupos, con y sin fiebre. Resultados: Se presentaron 14 casos para una población de referencia de 39.900, con una semiología homogénea de presentación. Conclusión: La incidencia anual se estimó en 1/10.000 niños para las convulsiones afebriles asociadas a GEA. Asimismo, el comportamiento clínico y la incidencia para las convulsiones y GEA asociadas a fiebre fueron similares, si bien con una aparición algo más precoz desde el inicio del cuadro y una edad ligeramente superior (AU)

Introduction: Benign convulsions associated with gastroenteritis are now increasingly recognized as clinical condition to the extent that it has become an independent entity under the heading of non-epileptic situational seizures. The aim of this study is to determine the annual incidence in the reference population of our hospital and the clinical characterization of seizures associated to gastroenteritis, in the absence or presence of fever for comparison. Patients and method: All seizures associated with gastroenteritis treated in our hospital were prospectively collected over a period of two calendar years. The children included were aged 6 months to 6 years with seizures in the context of gastroenteritis without electrolyte abnormalities, and divided into two groups, with and without fever. Results: There were 14 cases from a reference population of 39,900 with a homogeneous semiological presentation. Conclusion: The annual incidence was estimated at 1/10 000 children for afebrile seizures associated with gastroenteritis. The clinical behaviour and the incidence of seizures associated with fever and gastroenteritis was similar, but with an appearance somewhat earlier from the onset of symptoms, and at a slightly higher age (AU)

[Gastroenteritis-related seizures: study of incidence and clinical analysis]. / Crisis convulsivas asociadas a gastroenteritis: estudio de incidencia y análisis clínico.

INTRODUCTION: Benign convulsions associated with gastroenteritis are now increasingly recognized as clinical condition to the extent that it has become an independent entity under the heading of non-epileptic situational seizures. The aim of this study is to determine the annual incidence in the reference population of our hospital and the clinical characterization of seizures associated to gastroenteritis, in the absence or presence of fever for comparison. PATIENTS AND METHOD: All seizures associated with gastroenteritis treated in our hospital were prospectively collected over a period of two calendar years. The children included were aged 6 months to 6 years with seizures in the context of gastroenteritis without electrolyte abnormalities, and divided into two groups, with and without fever. RESULTS: There were 14 cases from a reference population of 39,900 with a homogeneous semiological presentation. CONCLUSION: The annual incidence was estimated at 1/10 000 children for afebrile seizures associated with gastroenteritis. The clinical behaviour and the incidence of seizures associated with fever and gastroenteritis was similar, but with an appearance somewhat earlier from the onset of symptoms, and at a slightly higher age.

Invasive disease caused by Haemophilus parainfluenzae III in a child with uropathy.

Urinary tract infections (UTIs) caused by Haemophilus parainfluenzae represent a very small percentage of this kind of pathology in children, and it has scarcely been described in the medical literature. According to previous studies of over 800 urine samples in children under 15 years old, a decrease of 50% (from 0.13% to 0.07%) is estimated in its occurrence over the last two decades. This can be explained by the early detection of UTIs and their early empirical treatment, because this micro-organism shows high sensitivity to antibiotics. Also, the culture media in which this bacterium grows are not included in most current protocols. Here we report a case of a UTI caused by H. parainfluenzae in a 4-year-old boy.