Hiperplasia de células neuroendocrinas pulmonares, una enfermedad pulmonar rara / Hyperplasia of pulmonary neuroendocrine cells, a rare lung pulmonary disease

La enfermedad pulmonar intersticial (EPI) es una entidad que incluye patologías raras de baja prevalencia, que involucran factores genéticos y ambientales, caracterizados por la remodelación del intersticio y los espacios aéreos pulmonares. La hiperplasia de células neuroendocrinas es una enfermedad rara del pulmón descrita por primera vez en 2005, caracterizada por retracciones de costillas, taquipnea e hipoxemia. El diagnóstico es clínico junto con la imagen de la tomografía computarizada de alta resolución (TACAR), siendo excepcional la necesidad de biopsia pulmonar. El tratamiento es sintomático, con pronóstico incierto, mejorando los síntomas con el tiempo, aunque en ciertas ocasiones pueden persistir durante años

Interstitial lung disease (ILD) is an entity that includes rare pathologies of low prevalence, involving genetic and environmental factors, characterized by the remodeling of the interstitium and lung air spaces. Neuroendocrine cell hyperplasia is a rare disease of the lung described for the first time in 2005, characterized by rib retractions, tachypnea and hypoxemia. The diagnosis is clinical along with the image of the high resolution computerized tomography (HRCT), the need for lung biopsy being exceptional. The treatment is symptomatic, with uncertain prognosis, improving the symptoms over time, although in certain occasions they may persist for years

Resultados de aplicar durante 13 años el protocolo de cribado universal de la hipoacusia en recién nacidos y estudio de los casos que no superan el cribado / Results of applying for 13 years the universal newborn hearing screening protocol and study of cases that do not pass the screening

Introducción: La detección precoz de la hipoacusia permite realizar un tratamiento temprano de los pacientes mejorando significativamente su pronóstico. Con este objetivo se implantó en la Comunidad Valencia el programa de cribado universal de la hipoacusia neonatal. Material y métodos: Se realizó un estudio de los resultados de dicho cribado desde su implantación en enero de 2002 hasta diciembre de 2014, es decir, durante 13 años consecutivos. Posteriormente se revisaron todos los casos que no superaron el cribado. Resultados: La cobertura del cribado alcanzó en pocos años a prácticamente el 100% de la población, con un total de recién nacidos cribados de 14.339. La tasa global de derivación a confirmación fue del 1%, y hubo un 0,7% de pérdidas. Se diagnosticaron 32 casos de hipoacusia neurosensorial (2,23/1.000 recién nacidos). Se estudiaron los casos que no superaron el cribado auditivo, y se halló una asociación entre diferentes variables, como los antecedentes familiares y la edad gestacional, con la presencia de hipoacusia neurosensorial bilateral. Conclusiones: El programa de cribado de la hipoacusia neonatal requiere unos años para su total universalización y cumplir de forma fiable las recomendaciones de la Comisión para la Detección Precoz de la Hipoacusia. Tras estudiar los casos que no superaron el cribado, se propone la edad gestacional como factor de riesgo para el desarrollo de hipoacusia. Asimismo, se considera que los neonatos con malformaciones craneofaciales se beneficiarían de ser remitidos directamente a una prueba de confirmación, así como de la realización de pruebas de imagen, por la alta probabilidad de presentar una patología malformativa asociada en el oído medio. Por otro lado, este ensayo permite recomendar la realización de un estudio cardiológico a los recién nacidos con diagnóstico de hipoacusia neurosensorial bilateral

Introduction: Early detection of hearing loss allows early treatment of these patients by significantly improving their prognosis. With this aim, the universal screening program for neonatal hearing loss was implemented in the Comunidad Valenciana. Material and methods: The results of this screening are studied, from its implementation in January 2002 to December 2014 (13 consecutive years). Subsequently, all the cases that did not pass the screening were reviewed. Results: The coverage of the screening reaches in a few years to practically 100% of the population, with 14339 of newborns being screened. The overall rate of referral to confirmation was 1% and there was 0.7% of losses. Thirty-two cases of neurosensory hearing loss were diagnosed (2.23/1000 newborns). We studied those cases that did not pass the auditory screening, finding an association between different variables such as family history of deafness and gestational age with the presence of bilateral sensorineural hearing loss. Conclusions: The neonatal hearing loss screening program requires a few years to be fully universalized and can reliably fulfill the recommendations of Comisión para la Detección Precoz de la Hipoacusia. After studying those cases that did not exceed the screening, gestational age is proposed as a risk factor for the development of hearing loss. Neonates with craniofacial malformations would also benefit from being referred directly to confirmatory test, as well as from the imaging test, due to the high probability of associated malformative pathology in the middle ear. On the other hand, this study allows the recommendation of a cardiological study to the newborns with diagnosis of bilateral sensorineural hearing loss

Posibilidades dietéticas en el trastorno por déficit de atención e hiperactividad / Dietary possibilities in attention deficit and hyperactivity disorder

El trastorno por déficit de atención e hiperactividad (TDAH) es el trastorno del neurodesarrollo más frecuente en la edad pediátrica. Se han sugerido etiologías bioquímicas diversas en relación con la dieta: alergias a alimentos y aditivos, toxicidad por metales pesados y otros tóxicos ambientales, dietas bajas en proteínas con alto contenido en hidratos de carbono, desequilibrios de minerales y micronutrientes, ingesta inadecuada de ácidos grasos esenciales y déficit de fosfolípidos, deficiencias de aminoácidos, deficiencias en el complejo vitamínico B y fitonutrientes y trastornos de tiroides. El tratamiento de este trastorno con fármacos estimulantes no está exento de efectos secundarios, como los que ejercen sobre el sueño y el apetito. La aparición de estos efectos secundarios, junto con una falta de respuesta al tratamiento médico, hace que muchos padres lo cuestionen y rechacen, llegando a recurrir a terapias alternativas, como los «tratamientos dietéticos». Por este motivo, los pediatras debemos estar familiarizados con estas terapias alternativas para poder valorar y aconsejar acerca de sus repercusiones nutricionales sobre el niño (AU)

Attention deficit hyperactivity disorder (ADHD) is the most common neurodevelopmental disorder in children. There has been suggested various biochemical etiologies in relation to diets: food allergies and additives, heavy metals toxicity and other environmental toxins, low protein diets with high levels in carbohydrate, imbalances of minerals and micronutrients, inadequate intake of essential fatty acids and phospholipids deficit, aminoacids deficiencies, deficiencies in B vitamins and phytonutrients and thyroid disorders. The treatment of this disorder with stimulant drugs are not free of side effects on sleep and appetite. The occurrence of these side effects joined with a lack of response to medical treatment causes that many parents question and reject the medical treatment, using alternative treatments like the 'dietary treatments'. Therefore pediatricians should be familiar with these alternative therapies to advise and to assess the nutritional impact on the child (AU)

Dietas «milagro» en pediatría. Posibilidades dietéticas en los trastornos del espectro autista / Miracle diets in Pediatrics. Dietary possibilities in autism spectrum disorders

Los trastornos del espectro autista (TEA) son alteraciones del neurodesarrollo caracterizadas por una afectación de la interacción social y de la comunicación asociada a comportamientos rituales, estereotipados y repetitivos, que habitualmente son diagnosticados en los niños. Su prevalencia parece estar aumentando, aunque este incremento podía deberse a un mejor conocimiento del problema y, por tanto, a una mayor sospecha clínica. Los clínicos, y sobre todo los pediatras que tratan a niños diagnosticados de TEA, deberían adquirir conocimientos científicos sobre los tratamientos considerados en este momento alternativos, para poder proporcionar información y consejos sobre sus posibles riesgos y beneficios (AU)

Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by impairment of social interaction and communication associated to rituals, stereotyped and repetitive behaviors, which are usually diagnosed in children. Its prevalence appears to be increasing although this increase could be due to a better understanding of the problem and therefore to a greater clinical suspicion. Clinical and especially pediatricians who treat children diagnosed with ASD should acquire scientific knowledge about treatments considered, at this time, alternative to provide information and advice about potential risks and benefits (AU)

Síndrome de Williams-Beuren. La importancia del diagnóstico precoz y el manejo multidisciplinario. Revisión y presentación de 2 casos / Williams-Beuren syndrome. The importance of early diagnosis and multidisciplinary management. Review and report of 2 cases

El síndrome de Williams-Beuren (SWB) es una enfermedad rara, caracterizada por la presencia de cardiopatía, discapacidad intelectual, rasgos faciales característicos y alteraciones multiorgánicas. La base genética del síndrome es conocida y permite realizar un diagnóstico de certeza de forma precoz. El diagnóstico clínico de sospecha se lleva a cabo por la presencia de anomalías cardiacas características, como la estenosis aórtica supravalvular y/o la estenosis pulmonar, junto con discapacidad intelectual y/o facies peculiar. Los pacientes deben ser tratados de forma multidisciplinaria, dada la variedad de patologías asociadas y el impacto familiar que conlleva el diagnóstico precoz. Presentamos 2 casos de SWB diagnosticados durante el periodo de lactancia, con fenotipos y manifestaciones diferentes dentro del espectro clínico del síndrome (AU)

Williams-Beuren syndrome (WBS) is a rare disease characterized by heart disease, intellectual disability, characteristic facial features and systemic abnormalities. Its genetic background is well known, allowing early diagnosis. So far, clinical diagnosis is generally based on the presence of features such as cardiac supravalvular aortic stenosis and pulmonary artery stenosis in association with intellectual disability and/or unusual faces. Multidisciplinary management is essential for the wide variety of associated anomalies and the family impact that the early diagnosis and prognosis entails. Here we present 2 cases of WBS, diagnosed during the infant period, who showed different phenotypes and clinical findings within the WBS spectrum (AU)

Isolated unilateral amazia: an exceptional breast anomaly.

BACKGROUND: Amazia is a rare breast anomaly. It consists of the absence of the mammary gland, with normal nipple-areola complex. It usually presents associated with a syndrome and it can be diagnosed during infancy or at the beginning of puberty. CASE: Here we report a case of a 13-year-old female with a late diagnosis of unilateral amazia. No distinctive body or anatomic abnormalities were found. She was referred for surgical reconstruction. COMMENTS: Amazia is an uncommon entity with a lack of incidence information in the literature. Early diagnosis and proper treatment are essential to avoid body image complications, especially among adolescent women.

[99mTc-HMPAO-leukocyte-labeled scintigraphy in the detection and follow-up of inflammatory bowel disease]. / La gammagrafía con leucocitos marcados con Tc-HMPAO en el diagnóstico y seguimiento de la enfermedad inflamatoria intestinal.

To assess the clinical value of 99mTc-HMPAO-leukocyte-labeled scintigraphy (LLS) in the detection and follow-up of inflammatory bowel disease (IBD) in the pediatric population, we retrospectively reviewed 33 patients (15 boys; mean age 10.7 +/- 2.2 years) with suspected IBD. A total of 58 examinations were performed: 29 for screening purposes, 23 for follow-up and 6 to detect relapses. LLS was compared with clinical symptoms (PCDAI index), biologic markers of inflammation, barium contrast radiology (BCR; n = 22), sonography (n = 22), colonoscopy (n = 16), and biopsy (n = 13). The final diagnosis was Crohn's disease in 12, ulcerative colitis in 4, and no IBD in 17. In the 17 patients without IBD, LLS was always negative. Among the 16 patients with IBD, LLS showed concordant results with BCR in 7/10 patients, with sonography in 6/11, with colonoscopy in 9/12 and with biopsy in 8/9. The severity of LLS increased with the PCDAI index (p < 0.001), with a positive correlation between the scintigraphic activity index/PCDAI r = 0.76. An increase in the PCDAI index with the severity of LLS (p < 0.001) was also observed in the follow-up, and a weak correlation (r = 0.50) between erythrocyte sedimentation rate/scintigraphic activity index was obtained. In 5 patients with normal biologic markers, LLS detected inflammation. All 6 patients with relapses were symptomatic; 5 had inflammation on LLS and 5 had abnormal biologic markers. In conclusion, LLS can be a useful screening tool in the detection of IBD in children to assess the grade of inflammation and extension of IBD. This technique can detect the presence of inflammation during follow-up and should be performed when relapses are suspected.

La gammagrafía con leucocitos marcados con 99mTc-HMPAO en el diagnóstico y seguimiento de la enfermedad inflamatoria intestinal / 99mTc-Leukocyte-labeled scintigraphy in the detection and follow-up of inflammatory bowel disease

Para valorar si la gammagrafía con leucocitos marcados con 99mTc-HMPAO (GLM) es útil en el diagnóstico y seguimiento de la enfermedad inflamatoria intestinal (EII) en pediatría, se han estudiado retrospectivamente 33 pacientes, 15 varones, edad 10,7 6 2,2 años, con sospecha de EII. El total de exploraciones ha sido 58, 29 con fines diagnósticos, 23 para el seguimiento de la enfermedad, y seis para la detección de recidiva. En el diagnóstico se comparó la GLM con la clínica (PCDAI), estudio analítico de sangre, radiología con contraste baritado (RCB; n 5 22), ecografía (ECO; n 5 22), colonoscopia (n 5 16) y biopsia (n 5 13). El diagnóstico final fue: enfermedad de Crohn (n 5 12), colitis ulcerosa (n 5 4), y no EII (n 5 17). En los 17 pacientes sin EII la GLM fue siempre normal. Entre los 16 pacientes con EII la concordancia de resultados de la GLM con RCB fue 7/10, con ECO 6/11, con colonoscopia 9/12, y con biopsia 8/9. Conforme aumentó el grado de severidad en la GLM se incrementó el PCDAI (p < 0,001), con una correlación índice de actividad gammagráfico/PCDAI r 5 0,76. Durante el seguimiento evolutivo también se ha observado un incremento del PCDAI con la severidad en la GLM (p < 0,001), y una débil correlación velocidad de sedimentación globular/índice de actividad gammagráfico r 5 0,5. En 5 pacientes con analítica normal la GLM fue patológica. Los 6 pacientes con recidiva de la EII presentaron síntomas, cinco de ellos tenían una GLM patológica y cinco una analítica alterada. En conclusión la GLM es una técnica aplicable en pediatría, útil en el diagnóstico inicial para valoración del grado de inflamación y extensión de la EII. Es capaz de detectar la presencia de inflamación activa durante el seguimiento evolutivo, y se debe realizar cuando se sospeche recidiva de la enfermedad

To assess the clinical value of 99mTc-HMPAO-leukocyte-labeled scintigraphy (LLS) in the detection and follow-up of inflammatory bowel disease (IBD) in the pediatric population, we retrospectively reviewed 33 patients (15 boys; mean age 10.7 6 2.2 years) with suspected IBD. A total of 58 examinations were performed: 29 for screening purposes, 23 for follow-up and 6 to detect relapses. LLS was compared with clinical symptoms (PCDAI index), biologic markers of inflammation, barium contrast radiology (BCR; n 5 22), sonography (n 5 22), colonoscopy (n 5 16), and biopsy (n 5 13). The final diagnosis was Crohn's disease in 12, ulcerative colitis in 4, and no IBD in 17. In the 17 patients without IBD, LLS was always negative. Among the 16 patients with IBD, LLS showed concordant results with BCR in 7/10 patients, with sonography in 6/11, with colonoscopy in 9/12 and with biopsy in 8/9. The severity of LLS increased with the PCDAI index (p < 0.001), with a positive correlation between the scintigraphic activity index/PCDAI r 5 0.76. An increase in the PCDAI index with the severity of LLS (p < 0.001) was also observed in the follow-up, and a weak correlation (r 5 0.50) between erythrocyte sedimentation rate/scintigraphic activity index was obtained. In 5 patients with normal biologic markers, LLS detected inflammation. All 6 patients with relapses were symptomatic; 5 had inflammation on LLS and 5 had abnormal biologic markers. In conclusion, LLS can be a useful screening tool in the detection of IBD in children to assess the grade of inflammation and extension of IBD. This technique can detect the presence of inflammation during follow-up and should be performed when relapses are suspected

[Current indications of esophageal pH-monitoring]. / Indicaciones actuales de la monitorización de la pHmetría esofágica.

Regurgitation is a common manifestation in infants below the age of 1 year and a frequent cause of visits to general practitioners and pediatricians. Accurate diagnosis of this condition requires a good choice of pH monitoring equipment and optimal technique when performing this procedure. The present article is a consensus statement of the Working Group on Gastroesophageal Reflux of the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition (SSPGHN) and reflects the conclusions reached in the VII Congress of the SSPGHN (Vigo, 2000). In general, esophageal pH monitoring is indicated in the following situations: (i) when symptoms of gastroesophageal reflux are present and evolution is not favorable, despite appropriate treatment; (ii) when trying to determine the relationship between gastroesophageal reflux and non-digestive symptoms and (iii) when evaluating the results of treatment, whether medical or surgical.

Indicaciones actuales de la monitorización de la phmetría esofágica / Esophageal pH- monitoring. Current indications

La regurgitación es una manifestación clínica común en niños menores de un año, y una frecuente causa de consulta en la práctica diaria pediátrica. Su diagnóstico preciso requiere la elección de un buen equipo de monitorización de pH esofágico y de una técnica de ejecución óptima. Este artículo es un consenso del Grupo de Trabajo de la Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica (SEGHNP) discutido en el VII Congreso de la SEGHNP (Vigo, 2000). En general, las recomendaciones para indicar una monitorización de pHmetría esofágica se reducen a las siguientes situaciones: a) ante la existencia de síntomas sugestivos de reflujo gastroesofágico (RGE), cuya evolución no es favorable a pesar de instaurar un tratamiento correcto; b) cuando quiera establecerse la relación entre RGE y síntomas extradigestivos, y c) como control de la eficacia del tratamiento, ya sea médico o quirúrgico (AU)

[Neonatal morbidity associated with meconial amniotic fluid]. / Morbilidad neonatal asociada a líquido amniótico meconial.

BACKGROUND: The significance of meconium-stained amniotic fluid (MSAF) is discussed, both in regards to obstetric and pediatric management. The primary concerns regarding MSAF have been its significance as a sign of fetal distress/perinatal asphyxia and the prevention of associated morbidity such as meconium aspiration syndrome. The objectives of our study were: (1) To know the incidence and type of MSAF, (2) to study the associated morbidity in newborns with MSAF admitted to the Neonatal Care Unit (NCU), and (3) to analyze the perinatal differences between newborns with moderate versus thick MSAF. PATIENTS AND METHODS: A retrospective study was performed to know the incidence of MSAF in all of the deliveries in our hospital during a 4 year period. The consistency of meconium was classified into 3 classes, thin (light), moderate or thick (heavy). On the other hand, a prospective analysis was undertaken to determine the morbidity of all meconium-stained neonates admitted to our NCU during this period, mainly in relation to perinatal asphyxia, pulmonary, gastrointestinal and infectious pathology and neonatal mortality. RESULTS: The presence of MASF complicates 18% of all of our deliveries with it being mild in 10.8%, moderate in 4.4% and severe in 2.8%. Of all newborns with MSAF, one third were admitted to the NCU, mainly for two reasons, association with perinatal asphyxia (124 cases) and observation of a risk of meconium aspiration syndrome (85 cases). The main neonatal morbidities associated with MSAF in our populations were perinatal asphyxia in 56.1% (32 cases of severe perinatal asphyxia and 92 non-severe), pulmonary pathology in 34% (meconium aspiration syndrome in 32 cases and other respiratory abnormalities in 43) and gastrointestinal pathology in 30.5% (transitory feeding intolerance in all cases). Four cases of meconium-stained neonates were exitus. The neonatal morbidity is significantly more frequent in relation to thick meconium and also if perinatal asphyxia is associated to MSAF. CONCLUSIONS: Although the relationship between MSAF and perinatal asphyxia is controversial, their association increases neonatal morbidity. In accordance with our results, thick meconium is implicated as a risk factor influencing the well being during the intrapartum and postpartum periods.

[Usefulness of renal scintigraphy in the assessment of the first febrile urinary infection in children]. / Utilidad de la gammagrafía renal en la valoración de la primera infección urinaria febril en la edad pediátrica.

OBJECTIVE: The objective of this study was to compare the findings of renal ultrasonography and 99mTc-DMSA renal scintigraphy in children with their first acute febrile urinary tract infection to determine which method is better in detecting patients at risk of renal injury or reflux. PATIENTS AND METHODS: Thirty-three children between 0.2 and 12.3 years of age with their first acute febrile urinary tract infection were studied by means of clinical and laboratory assessment, renal ultrasonography and 99mTc-DMSA renal scintigraphy. In 24 patients (72.7%) a voiding cystourethrography was made. The patients were divided into two groups, those under 2 years of age (n = 14) and those over 2 years old (n = 19). RESULTS: Cortical scintigraphy showed renal changes in 23 patients (69.7%) and ultrasonography showed renal changes in 2 (6.1%; p < 0.05). Children over 2 years of age had a higher incidence of renal lesions than did younger children (84.2% vs 50%; p < 0.05). There were no differences between girls and boys. Reflux was demonstrated in 13 patients (54.2%). Among those kidneys which presented abnormal cortical scintigraphy, vesicoureteral reflux was present in 76.5% of the studies. Furthermore, of those with abnormal ultrasonography vesicoureteral reflux was present in 17.6%. CONCLUSIONS: We found a high incidence of renal involvement in children with their first acute febrile urinary tract infection. The cortical scintigraphy is more sensitive than ultrasonography in detecting renal changes. The incidence of vesicoureteral reflux in febrile urinary tract infection is high. When there is a renal cortical defect the risk of reflux is higher. This suggests that cortical scintigraphy should be added to the initial examination of children with their first acute febrile urinary tract infection and this could be supplemented by voiding cystourethrography alone, with ultrasonography having a secondary role.

[Sensitivity of the clonidine and guanfacine tests (alpha-2-adrenergic agonists) as pharmacologic stimulants of growth hormone. Effects on plasma cortisol]. / Sensibilidad del test de clonidina y test de guanfacina (agonistas alpha-2-adrenérgicos) como estímulos farmacológicos de la hormona de crecimiento. Efectos sobre el cortisol plasmático.

OBJECTIVE: The effects of two pharmacological alpha-2-adrenergic stimuli (clonidine and guanfacine) on GH and cortisol concentrations in the blood in a group of non-growth-hormone-deficient children with short stature was compared. PATIENTS AND METHODS: Seventeen children (10 males and 7 females) with short stature (height standard deviation score: -2.3 +/- 0.5) were studied. The mean age was 9.4 +/- 2.5 years. The GH response to the clonidine or guanfacine test was positive (> 10 ng/ml) in all subjects. RESULTS: Oral clonidine test: In 14 cases (82.4%) the GH response was positive (peak value: 17.2 +/- 6.3 ng/ml) and in 3 cases (17.6%) the GH response was negative (false negatives). A significant decrease in plasma cortisol concentration was noted, from a basal level of 17.0 +/- 8.0 to 5.9 +/- 3.8 micrograms/ml at 120 minutes (p < 0.05). Blood pressure decreased significantly (p < 0.05), but without symptoms of hypotension. Somnolence was noted in 16 cases (94.1%). Oral guanfacine test: In 8 cases (47%) the GH response was positive (peak value: 14.2 +/- 3.7 ng/ml) and in 9 cases (52.9%) the GH response was negative (false negatives). A significant decrease in plasma cortisol concentration was noted, from a basal level of 14.2 +/- 6.4 to 7.2 +/- 3.7 at 90 minutes (p < 0.05). Blood pressure did not change and none of the patients had somnolence during the test. CONCLUSIONS: The alpha-2-adrenergic agonists, clonidine and guanfacine, appear to be reliable agents for testing of the growth hormone reserve of the pituitary gland. Plasma cortisol levels decreased significantly with either stimuli. The clonidine test is more sensitive than the guanfacine test and can be recommended as a definitive test for the diagnosis of classical growth hormone deficiency.