Hipertensión arterial por esfuerzo: posible predictor de riesgo cardiovascular / Exercise-induced arterial hypertension: possible predictor of cardiovascular risk

Introducción: Durante el ejercicio se produce una elevación fisiológica de la presión arterial. Algunos sujetos previamente normotensos presentan grandes incrementos con el ejercicio, lo que podría ser un factor pronóstico adverso.Casos clínicos: Dos varones de 15 y 16 años, sin antecedentes personales de interés, remitidos por pérdida de conciencia de minutos de duración, en el primer caso, con recuperación espontánea mientras entrenaba al baloncesto y, en el segundo, con cefalea importante desencadenada durante un partido de fútbol. Se constataron cifras de presión > P99 en ambos. La exploración física era normal. Se realizaron determinaciones en condiciones de reposo, que mostraron intervalos de normalidad. Los hallazgos analíticos, función renal, metabólica y hormonal fueron normales. No se encontraron anomalías en la eco-Doppler. Se descartó afección de órganos diana. La monitorización ambulatoria de la presión arterial mostró máximos de presión > P99 coincidiendo con la realización de ejercicio; las demás lecturas estaban dentro de la normalidad. Se suprimió el ejercicio físico intenso sin requerir otro tipo de medidas.Conclusiones: Valorar la aparición de hipertensión arterial en adolescentes que practican deporte, introducir la monitorización ambulatoria de la presión arterial como cribado en revisiones médico-deportivas y suprimir el esfuerzo como única medida terapéutica(AU)

Introduction: Exercise produces a physiological increase of the blood pressure. Some previously normotensive subjects have significant increases with exercise, which could be an adverse prognostic factor.Clinical cases: Two male subjects, 15 and 16 years old, with no personal background of interest, were referred. The first one was due to loss of consciousness for several minutes with spontaneous recovery while practicing basketball. The second case was for a strong headache that occurred while playing soccer. Blood pressure values for both were > P99 and their physical examinations were normal. Tests performed at rest showed normal ranges. The laboratory findings, renal and metabolic function and hormones were normal. There were no abnormalities on the echo-Doppler. Involvement of target organs was ruled out. Ambulatory blood pressure monitoring showed tension peaks > P99, coinciding with exercise, the remaining readings being within normality. Intense physical exercise was discontinued, without requiring any other type of actions.Conclusions: Introducing ambulatory blood pressure monitoring as screening in medicalsports check-ups and suppression of exercise as the only therapeutic measures should be evaluated when faced with arterial hypertension in adolescents who practice sports(AU)

[Griscelli-Prunieras syndrome: report of two cases]. / Síndrome de Griscelli-Prunieras: a propósito de dos casos.

Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.

Síndrome de Griscelli-Prunieras: a propósito de dos casos / Griscelli-Prunieras syndrome: report of two cases

El síndrome de Griscelli-Prunieras (SGP) es una rara entidad de herencia autonómica recesiva que se presenta con albinismo parcial. Su patogenia se explica por alteraciones en los genes que regulan el transporte de melanosomas. Se han descrito tres tipos en base a sus características genéticas y moleculares. Se conocen las mutaciones relacionadas con este síndrome. A continuación presentamos dos pacientes, no descritos anteriormente en España, que presentaban un cabello gris-plateado característico e inmunodeficiencia cuyo estudio genético demostró la mutación en el gen Rab27A (asociado al SG2). El pronóstico y tratamiento difiere considerablemente entre las diferentes formas de la enfermedad, por lo que el diagnóstico genético precoz es fundamental para poder establecer un pronóstico y tratamiento adecuados (AU)

Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible(AU)

[Usefulness of acid-base and electrolyte balance in acute gastroenteritis]. / Utilidad del equilibrio ácido-base y del ionograma en el tratamiento de la gastroenteritis aguda.

INTRODUCTION: Blood analysis blood is frequently requested for evaluating patients with acute gastroenteritis who come to our emergency department, but there are few studies that determine its real usefulness in the management of these patients. OBJECTIVES: a) To determine the reasons why paediatricians request laboratory tests in patients with acute gastroenteritis; b) to establish the type and frequency of laboratory abnormalities found in these patients; c) to evaluate the ability of paediatricians to predict laboratory abnormalities in children with acute gastroenteritis from the history and physical examination; d) to assess the frequency with which these laboratory findings change the initial management of the patient, and e) to determine whether there is an association between clinical and analytical results, and length of hospital stay. PATIENTS AND METHODS: Over a period of 4 months, children between 3 months and 18 years with symptomatic acute gastroenteritis seen in the emergency department and had laboratory tests requested by the paediatrician were included. RESULTS: Of the 4,172 children seen with acute gastroenteritis, 163 patients who had laboratory tests done were included in the study. The most common reason for requests was clinical suspicion of dehydration in 67.5 %. Abnormal results were seen in 77.9 % of cases, mainly metabolic acidosis (72.4 %). The sensitivity analysis to predict an analytical abnormality was 64.6 % with a specificity of 61.1 %. Electrolyte disorders caused a change in the initial management in 12.3 % of patients, with 85.3 % of patients requiring hospital admission; bicarbonate, sodium, creatinine and urea values correlated with a hospital stay of more or less 24 hours. CONCLUSIONS: History and physical examination have limitations in predicting the presence of clinically significant electrolyte abnormalities in patients without clinical signs of dehydration or mild dehydration. Some laboratory tests correlate well with the length of patient stay in hospital.

Utilidad del equilibrio ácido-base y del ionograma en el tratamiento de la gastroenteritis aguda / Usefulness of acid-base and electrolyte balance in acute gastroenteritis

Introducción: La analítica sanguínea es solicitada frecuentemente para valorar a los pacientes con gastroenteritis aguda atendidos en urgencias, pero existen escasos estudios que determinen su utilidad real en el tratamiento de dichos pacientes. Objetivos: Nuestro estudio tiene los siguientes objetivos: a) determinar los motivos para que los pediatras soliciten una analítica en pacientes con gastroenteritis aguda; b) establecer el tipo y la frecuencia de las alteraciones analíticas encontradas en estos pacientes; c) valorar la capacidad de los pediatras para predecir alteraciones analíticas en niños con gastroenteritis aguda a partir de la anamnesis y la exploración física; d) evaluar la frecuencia con la que estas alteraciones analíticas producen cambios en el tratamiento inicial del paciente, y e) determinar si existe una asociación entre las variables clínicas y los resultados analíticos, y la duración de la estancia hospitalaria. Pacientes y métodos: Se incluyen en el estudio niños de edades comprendidas entre 3 meses y 18 años con síntomas de gastroenteritis aguda atendidos en el servicio de urgencias durante un período de 4 meses y para quienes se solicita analítica de sangre a criterio del pediatra. Resultados: De 4.172 niños atendidos por gastroenteritis aguda, se incluyeron en el estudio 163 pacientes a quienes se les practicó un estudio analítico. El motivo más frecuente para solicitar una analítica fue, en un 67,5 %, la sospecha clínica de deshidratación. Se objetivó una analítica alterada en el 77,9 % de los casos, destacando la acidosis metabólica (72,4 %). La sensibilidad para predecir una alteración analítica fue del 64,6 %, con una especificidad del 61,1 %. Los trastornos iónicos condicionaron un cambio en el tratamiento inicial del paciente en un 12,3 % de los casos. El 85,3 % de los pacientes requirió ingreso hospitalario; los valores de bicarbonato, sodio, urea y creatinina se correlacionaron con una estancia hospitalaria mayor o menor de 24 h. Conclusiones: La anamnesis y la exploración física presentan limitaciones para predecir la existencia de alteraciones hidroelectrolíticas clínicamente relevantes en pacientes sin signos clínicos de deshidratación o con deshidratación leve. Algunos parámetros analíticos presentan una buena correlación con el tiempo de permanencia hospitalaria del paciente (AU)

Introduction: Blood analysis blood is frequently requested for evaluating patients with acute gastroenteritis who come to our emergency department, but there are few studies that determine its real usefulness in the management of these patients. Objectives: a) To determine the reasons why paediatricians request laboratory tests in patients with acute gastroenteritis; b) to establish the type and frequency of laboratory abnormalities found in these patients; c) to evaluate the ability of paediatricians to predict laboratory abnormalities in children with acute gastroenteritis from the history and physical examination; d) to assess the frequency with which these laboratory findings change the initial management of the patient, and e) to determine whether there is an association between clinical and analytical results, and length of hospital stay. Patients and methods: Over a period of 4 months, children between 3 months and 18 years with symptomatic acute gastroenteritis seen in the emergency department and had laboratory tests requested by the paediatrician were included. Results: Of the 4,172 children seen with acute gastroenteritis, 163 patients who had laboratory tests done were included in the study. The most common reason for requests was clinical suspicion of dehydration in 67.5 %. Abnormal results were seen in 77.9 % of cases, mainly metabolic acidosis (72.4 %). The sensitivity analysis to predict an analytical abnormality was 64.6 % with a specificity of 61.1 %. Electrolyte disorders caused a change in the initial management in 12.3 % of patients, with 85.3 % of patients requiring hospital admission; bicarbonate, sodium, creatinine and urea values correlated with a hospital stay of more or less 24 hours. Conclusions: History and physical examination have limitations in predicting the presence of clinically significant electrolyte abnormalities in patients without clinical signs of dehydration or mild dehydration. Some laboratory tests correlate well with the length of patient stay in hospital (AU)

Edemas como presentación de enteropatía pierde-proteínas / Edema as the form of presentation of protein-losing enteropathy

No disponible