Meduloblastoma congénito gigante de presentación y localización atípicas / Congenital giant medulloblastoma with atypical presentation and location

El meduloblastoma congénito es uno de los tumores intracraneales más frecuentes en la edad pediátrica; sin embargo, su presentación es poco frecuente antes de los 2 meses de vida. Presentamos el caso deun recién nacido con un meduloblastoma congénito gigante, con sintomatología en el periodo neonatal inmediato y de localización atípica. Este tipo de tumor debe ser tenido en consideración al realizar el diagnóstico diferencial de la hidrocefalia congénita (AU)

Congenital medulloblastoma is one of the most frequent pediatric intracranial tumors, however, it is unusual its presentation before the two months of life. We are presenting the case of a new-born infant with a giant congenital medulloblastoma, with symptoms in the immediate neonatal period and atypical location. This kind of tumor must be taken on account when making a differential diagnosis of congenital ventricular hydrocephalus (AU)

¿Mejora el aporte proteico precoz el crecimiento extrauterino en recién nacidos pretérmino de bajo peso? / Does early parenteral protein intake improve extrauterine growth in low birth weight preterms?

Introducción: El retraso de crecimiento postnatal es frecuente en los recién nacidos pretérmino (RNPT) de bajo peso. La administración precoz de proteínas en su nutrición parece mejorar el crecimiento extrauterino y las comorbilidades asociadas. Evaluamos el impacto sobre el crecimiento posnatal de un nuevo protocolo de nutrición parenteral con aporte precoz de aminoácidos en recién nacidos < 1.500g. Material y métodos: Estudio observacional de casos-controles sobre una muestra de 58 RNPT < 1.500g. El grupo de casos lo formaron 29 RNPT que recibieron al menos 1,5g/kg/día de aminoácidos vía parenteral en las primeras 24h de vida, con aumentos diarios hasta alcanzar al menos 3,5g/kg/día al 3.°-4.° día, comparándose con un grupo control de 29 RNPT en los que el aporte de aminoácidos se inició el 2.°-3.° día de vida a 1g/kg/día, con incrementos menores diariamente. Valoramos la evolución somatométrica de ambos en el primer mes de vida. Resultados: No había diferencias en las características basales (sexo, edad gestacional, parámetros somatométricos) entre ambos grupos. Los RNPT que recibieron proteínas a dosis mayores y más precozmente tuvieron una ganancia de peso significativamente mayor que el grupo control (423±138g vs. 315±142g; p=0,005), presentando también una mayor velocidad de ganancia ponderal diaria (19,4±3,3 vs. 16,5±4,8; p=0,010) y una recuperación más precoz del peso al nacimiento (11,5±3,3 días vs. 14,5±4,5 días; p=0,045). No se observó mayor incidencia de complicaciones. Conclusiones: El aporte precoz de aminoácidos a dosis más altas mejora la ganancia ponderal en RNPT sin observarse un riesgo añadido para el paciente(AU)

Introduction: Extrauterine growth restriction affects most premature newborns. Early and higher parenteral protein intake seems to improve postnatal growth and associated comorbidities. We evaluate the impact of a new parenteral nutrition protocol based on early amino acid administration on postnatal growth in premature infants with a birth weight < 1,500 grams. Material and methods: A case-control study in 58 premature newborns with a birth weight < 1,500 grams. In the case group we included 29 preterm neonates who received at least 1.5g/kg/day parenteral amino acid during the first 24hours after birth, reaching a maximum dose of 3.5g/kg/day on the 3rd-4th day after birth. The control group was formed by 29 preterm neonates for whom protein support began on the 2nd-3rd day after birth with a dose of 1g/kg/day with lower daily increases than the case group. Growth rates and complications were followed until 28 days of life or discharge from NICU. Results: There were no differences between groups in baseline characteristics. Premature newborns who received higher and earlier doses of proteins had a greater weight gain than the control group, and this difference was statistically significant (423±138g vs. 315±142g; P=.005). In addition, they had a higher daily weight gain rate (19.4±3.3 vs. 16.5±4.8; P=.010) and they regained birth weight earlier (11.5±3.3 days vs. 14.5±4.5 days; P=.045). A higher incidence of complications was not observed. Conclusions: Early and higher amino acid administration improves growth rate in premature neonates with no apparent increase in risks for the patient(AU)

Serum levels of IGF1 are a useful predictor of retinopathy of prematurity.

OBJECTIVE: To ascertain whether insulin-like growth factor 1 (IGF1) is associated with retinopathy of prematurity (ROP) and is a useful predictor of the disease. Although its aetiopathogenesis is multifactorial, development of the disease appears to be related to a deficiency in IGF1, a hormone that acts together with vascular endothelial growth factor in the normal angiogenesis in the retina. DESIGN: Prospective study for a 30-month period. PARTICIPANTS: A total of 74 premature newborn babies, of less than 1500 g and/or 32 weeks' gestational age or less. TESTING: To determine the development and severity of ROP. MAIN OUTCOME MEASURES: Serum levels of IGF1 were measured once a week from birth until 40 weeks corrected gestational age in each subject. RESULTS: Of our subjects, 32.4% developed some form of ROP, and all those ROP patients had the following characteristics at birth (median +/- standard deviation scores): low weight (1098 +/- 188 vs. 1393 +/- 285 g), short length (36.74 +/- 1.77 vs. 38.89 +/- 3.08 cm), small cranial perimeter (26.03 +/- 1.74 vs. 27.93 +/- 1.81 cm) and young gestational age (29.7 +/- 1.78 vs. 31.3 +/- 1.79 weeks) (p < 0.05). Other factors previously associated with ROP that were also observed with statistically significant frequency in our ROP patients were bronchopulmonary dysplasia, intracranial haemorrhage, the need for erythrocyte transfusion or treatment with erythropoietin and sepsis (all p < 0.05). Levels of IGF1 at the 3rd week post-partum, independent of gestational age at birth, were clearly lower in the group who developed ROP (29.13 vs. 43.16 ng/mL, p < 0.05). A value of 30 ng/mL of IGF1 in the third week post-partum was found to have a 90% sensitivity in the diagnosis of ROP. A rapid rise in IGF1 levels between the 3rd and 5th weeks appeared to be related to the development of a higher stage of ROP. CONCLUSION: Determination of IGF1 serum levels in the 3rd week post-partum, independent of gestational age at birth, provides a sufficient and reliable prognostic tool and allows the identification of a group of patients at high risk of developing the disease.

[Advances in the diagnosis and treatment of maple syrup urine disease: experience in Galicia (Spain)]. / Avances en el diagnóstico y tratamiento de la enfermedad de jarabe de arce, experiencia en Galicia.

INTRODUCTION: Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder caused by an inherited deficiency of branched chain alpha-ketoacid dehydrogenase activity. Accumulation of the amino acids leucine, isoleucine, valine and alloisoleucine and their metabolic products in cells and biological fluids results in severe brain dysfunction. PATIENTS AND METHODS: We present three cases of MSUD diagnosed in Galicia since 2000, the year in which the Extended Newborn Screening Program by tandem mass spectrometry was started in this region. One of the patients was diagnosed on the basis of early clinical presentation and the others by neonatal screening. Enzymatic and molecular studies confirmed two classic cases of MSUD and an intermediate variant. We describe the clinical and biochemical details at confirmation of diagnosis and the long-term outcome of the three patients. Throughout follow-up, all the patients maintained adequate leucine levels, which were near the normal range (mean levels: 220, 177 and 252 micromol/L, respectively). Several moderate metabolic decompensations were observed but leucine levels only occasionally exceeded 1000 micromol/L (one day in two patients). IQ tests were performed in all patients and scores were within the normal range. In view of our results, we believe the following measures are essential to improve the prognosis of MSUD: inclusion of this disease in Expanded Neonatal Screening Programs with early samples (at 2-3 days of life); aggressive treatment in the initial phase and during acute decompensations; strict metabolic control to prevent crises, monitoring of branched-chain amino acids (dried blood spot sample), and maintenance of long term plasma leucine levels below 300 micromol/L.

Avances en el diagnóstico y terapéutica de los niños con tirosinemia tipo I / Advances in the diagnosis and treatment of children with tyrosinemia type I

La tirosinemia Tipo I es un error genético del metabolismode la tirosina producido por un déficit deFumarilacetoacetato Hidrosilasa (FAH), último enzimaen la vía de degradación de la tirosina, que dalugar al acúmulo de metabolitos intermediarios maleily fumaril-acetoacetato produciendo toxicidad hepáticay renal, y el metabolito secundario succinilacetona,produciendo efectos sistémicos y locales.Se suele presentar como hepatopatía aguda o crónicay/o carcinoma hepatocelular, disfunción tubularrenal o manifestaciones neurológicas. Como alternativasterapéuticas en el momento actual destacarel tratamiento dietético, la terapia con NTBC (2-(2-Nitro-4-trifluorometilbenzoil) 1-3-ciclohexanodiona) yel trasplante hepático. Este último se reserva básicamentepara pacientes con mala respuesta alNTBC, riesgo de malignidad y/o mala calidad de vidacon las otras alternativas terapéuticas. Presentamos3 casos de pacientes que han recibido NTBCde forma precoz con muy buena respuesta clínica ybioquímica, como muestra del importante cambioque se ha producido en los últimos años en esta enfermedad,lo que conlleva a grandes mejoras tantoen la calidad de vida como en su pronóstico

Tyrosinemia type I is a inborn error of tyrosinemetabolism caused by a deficiency of fumarylacetoacetase(FAH), the last enzyme in the tyrosine catabolicpathway; as a result, the reactive compoundsmaleylacetoacetate and fumarylacetoacetate are formed,which are thought to be responsable for the liverand kidney injury, and the secondary metabolitesuccunylacetone, with regional and general injurys.Clinically the disorder is characterised by progressiveacute or chronic liver damage and/or hepatocellularcarcinoma, renal tubular dysfunction or neurologicalcrises. The current therapy includes dietaryrestriction, NTBC (2-(2-nitro-4-trifluoromethyl benzoyl)-1-3-cyclohexanedione) therapy and liver transplantation.The indications for liver transplantationinclude non-response to NTBC, risk of malignancyand poor quality of live related to the other therapies.Here we report 3 patients early managed with NTBCresulting in clinical and biochemical improvement, toshow the important changes in the managenent ofthe disease in the last years, with better quality of lifeand pronostic as a result

Silicon determination in milk by electrothermal atomic absorption spectrometry using palladium as chemical modifier.

A direct method for silicon determination in milk samples by Electrothermal Atomic Absorption Spectrometry was developed. Palladium was used as chemical modifier at a concentration of 610 mg L(-1); with this modifier, silicon was stable up to 1800 degrees C. The precision and accuracy of the method were investigated. The detection limit was 16.2, 2.7 and 7.2 micro g L(-1) for cows' milk, human milk and infant formula, respectively. The method was applied to silicon determination in 17 infant formula samples, 13 human milk samples and 12 cows' milk samples.

Infección del tracto urinario: estudio prospectivo clínico y analítico para el diagnóstico diferencial en niños con sospecha de enfermedad infecciosa / Urinary tract infection in children: clinical and analytical prospective study for differential diagnosis in children with suspicion of an infectious disease

Objetivo: examinar las diferencias, en la clínica y en la analítica de sangre y orina, en los pacientes que acuden a urgencias de pediatría de un hospital de III nivel que permitan distinguir a aquellos que tienen infección del tracto urinario (ITU) de los que presentan otros procesos infecciosos o febriles. Con este fin, se hace un examen comparativo de los datos clínicos, sanguíneos, y análisis de orina entre dos grupos de pacientes, con y sin ITU, atendidos consecutivamente en urgencias. Pacientes y Métodos: durante un periodo de 6 meses, fueron evaluados prospectivamente 349 niños con edades comprendidas entre menos de 1 mes y los 14 años (media: 4,1 años), de entre los 14.400 atendidos en urgencias y que presentaban fiebre > 38,1° C y/o otros signos o síntomas relacionados con una ITU. En 247 pacientes, la ITU fue descartada. A los restantes 102 se les practicó un urocultivo y fueron divididos en dos grupos según el resultado del mismo, con y sin ITU; analizándose las diferencias entre los datos clínicos, exámenes de orina y análisis de sangre. Resultados: la sospecha de ITU en los 14.400 pacientes atendidos en urgencias, se planteó en 349 casos (2,4 por ciento), con una prevalencia de ITU en el conjunto de pacientes con sospecha de tener infección del 12,3 por ciento. La incidencia global de ITU en la población pediátrica que acudió a urgencias fue del 0,3 por ciento. Los 59 pacientes del grupo con urocultivo negativo, mostraron un porcentaje más alto de signos clínicos inespecíficos y examen microscópico de orina normal (p < 0,05), que los 43 pacientes del grupo con urocultivo positivo (ITU confirmada). El multistix de orina anormal, se obtuvo en mayor porcentaje (p < 0,05), en los pacientes con ITU. No se hallaron diferencias relevantes en otros parámetros clínicos y análisis de sangre entre ambos grupos. Fue necesario hospitalizar, basándose en la gravedad de los signos clínicos, en una proporción más elevada a los pacientes con ITU (27,9 por ciento vs 1,7 por ciento) y a los menores de 6 meses con ITU (66,6 por ciento). Conclusiones: el multistix y el examen microscópico anormal de orina en los pacientes con ITU, y los signos clínicos inespecíficos en los que no la tienen, poseen valor discriminativo en el diagnóstico diferencial. Se observa un gran solapamiento entre los signos clínicos y los análisis de sangre entre los pacientes que acuden a urgencias con infecciones varias y los que padecen una ITU. Estos parámetros, no son de utilidad significativa en el diagnóstico diferencial. Los multistix son útiles para el cribado en los casos sospechosos de ITU, si se conocen bien sus limitaciones. Es imprescindible obtener una muestra limpia de orina con cultivo positivo, para el diagnóstico de infección urinaria verdadera (AU)

Selenium determination in mother and child's hair by electrothermal atomic absorption spectrometry.

A method for the selenium determination in a mother and her child's hair using palladium as a chemical modifier was optimized. The sample was digested with nitric acid and hydrogen peroxide and diluted to 5 ml. To achieve complete mineralization the samples were ashed at 1200 degrees C in the presence of palladium as a chemical modifier. The optimum atomization temperature was 1900 degrees C. The precision and accuracy of the method were studied using the reference material CRM 397. Results of calibration using aqueous standards and the standard addition method were compared. The method was applied to the selenium determination in 30 samples of the mother's and child's hair. The levels found were 0.54 +/- 0.34 microgram/g for mother's hair and 0.77 +/- 0.25 microgram/g for child's hair.

[Anomalies of the inclination of the occlusal plane: early treatment using indirect guide-planes--electromyographic response]. / Anomalies d'inclinaison du plan occlusal: traitement précoce par les pistes indirectes--réponse électromyographique.

We discuss five cases of ANGLE's malocclusion Classes I, II or III that were rehabilitated basically by: restoration of masticatory function (previously pathological); the use of removable orthopaedic plates with indirect guideplanes. The patients (aged 6-15 years when treatment began) now have symmetrical balanced occlusion. Surface electromyography was used to study the function of the anterior temporal, surface masseter, deep masseter and anterior digastric muscles of 12 patients during rehabilitation of severe malocclusion. Electromyograms were obtained both with and without orthopaedic guideplanes installed. There were no significant differences as regards mean resting myoelectric activity. During maximum voluntary clenching in centric occlusion, the anterior temporal muscles were the most active, followed by the surface masseters. The activity of the anterior temporal muscles during clenching was significantly less (P < 0.01) with guideplanes than without. During lateral displacements, the non-working side anterior temporal muscle exhibited a significantly higher potential than the other muscles monitored, especially with guideplanes installed. The activity was lees with guideplanes during swallowing.