Enfermedad de Niemann-Pick tipo C: desde una colestasis neonatal hacia un deterioro neurológico. Variabilidad fenotípica / Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes

Introducción: La enfermedad de Niemann-Pick tipo C está causada por un defecto en el transporte intracelular de colesterol que produce un acúmulo de lípidos en los lisosomas de diferentes tejidos. Es una enfermedad rara, debida generalmente a mutaciones en el gen NPC1 y solo unos pocos casos se asocian a mutaciones en el gen NPC2. Frecuentemente se manifiesta en la edad pediátrica, presentando gran variabilidad en las manifestaciones clínicas. La enfermedad conduce a un deterioro neurológico con diferentes síntomas que están relacionados con la edad. Una colestasis neonatal transitoria, la aparición de esplenomegalia y/o hepatomegalia pueden preceder en años a los síntomas neurológicos. Pacientes y métodos: Presentamos los 6 casos diagnosticados en nuestra unidad en los últimos 20 años. Se han revisado las manifestaciones clínicas, los hallazgos neurorradiológicos (RM) y el análisis molecular de todos ellos. Resultados: Todos se presentaron antes de los 6 años y 5 casos tuvieron afectación hepática y/o colestasis en el periodo neonatal. En 2 casos se detectó ascitis en el periodo prenatal. La presencia de esplenomegalia se objetivó en 5 casos. En todos los casos se detectaron mutaciones en el gen NPC1. Conclusión: Es importante el conocimiento de esta enfermedad y la identificación de los síntomas clínicos precoces para poder diagnosticarla precozmente, lo que conllevaría a un tratamiento adecuado, pudiendo evitar procedimientos innecesarios. Por otra parte es importante asesorar adecuadamente a las familias y proporcionar un consejo genético (AU)

Introduction: Niemann-Pick type C is a lysosomal storage disorder caused by a defect in intracellular trafficking of cholesterol. It is a rare disease, usually caused by mutations in NPC1 gene, but in some cases by mutations in NPC2 gene. Usually it is present in the paediatric age with a great variability of clinical manifestations. This disease leads to neurological degeneration with various age-related symptoms. Transient neonatal cholestasis, the appearance of splenomegaly and/or hepatomegaly may occur years before the neurological symptoms. Patients and methods: We report 6 cases diagnosed in our unit in the last 20 years. We reviewed the clinical manifestations, neuroradiological findings (MRI) and molecular analysis of all of them. Results: The disease began before 6 years of age and 5 cases had liver dysfunction and cholestasis in the neonatal period. Ascites was detected in 2 cases in prenatal period. Five cases have or had splenomegaly. Mutations in NPC1 gene were detected in all of them. Conclusions: It is important to understand this disease and the identification of early clinical symptoms to make an early diagnosis, leading to appropriate treatment and avoiding unnecessary tests. Moreover, it is important to suitably advise families and provide them with genetic counseling (AU)

Revisión de los parámetros hematológicos y bioquímicos para identificar la ferropenia / Review of haematology and biochemistry parameters to identify iron deficiency

Introducción: La ferropenia es una de las deficiencias nutricionales más frecuentes en la primera infancia. En las últimas décadas se han incorporado nuevas técnicas para el diagnóstico de la ferropenia a los clásicos marcadores bioquímicos; sin embargo, no se conoce bien qué parámetros deberían incluirse en un panel para identificar el déficit de hierro y la anemia ferropénica. Los objetivos de este estudio fueron los siguientes: a) determinar los valores de los parámetros hematológicos eritrocíticos y del contenido de hemoglobina eritrocitaria (CHr), así como de ferritina, de sideremia, de saturación de transferrina, de transferrina y de capacidad total de fijación de hierro, con objeto de analizar su relevancia en la identificación de la ferropenia en la muestra, y b) determinar qué parámetros hematológicos y bioquímicos son predictores independientes de ferropenia en la muestra estudiada. Pacientes y métodos: La muestra procedía de una población urbana con una edad comprendida entre los 6 meses y los 14 años, de ambos sexos. El protocolo de estudio incluía un cuestionario y la realización de una analítica que constaba de hemograma con CHr y bioquímica del metabolismo férrico. Resultados: Se incluyó a 237 niños. El análisis de regresión logística identificó al CHr y al hierro como los únicos parámetros independientemente asociados al diagnóstico de ferropenia (p<0,05); la reducción relativa del riesgo fue más significativa para el parámetro CHr. Conclusiones: Este estudio apoya que un panel basado exclusivamente en parámetros hematológicos, con la inclusión del CHr, es una alternativa válida al panel conjunto hematológico y bioquímico tradicionalmente empleado para identificar el déficit de hierro y la anemia ferropénica en la infancia (AU)

Introduction: There has been a continuous improvement in the methods to detect iron deficiency, a common condition in children, in the last decades or so, but it is still difficult to establish which parameters should be included in a diagnostic panel for iron deficiency and iron deficiency anaemia. The objectives of this study were to evaluate the diagnostic efficiency of commonly used haematological and biochemical markers, as well as the reticulocyte haemoglobin content (CHr) in the diagnosis of iron deficiency with or without anaemia. Study design: A descriptive cross-sectional study was carried out on an urban population of both sexes aged 6 months to 14 years. A complete blood cell count with CHr was obtained. Biochemical markers of iron metabolism, transferrin saturation, serum iron, ferritin and total iron binding capacity were also measured. Results: Samples were obtained for 237 children. A multiple stepwise logistic regression analysis identified CHr and iron serum as the only parameters independently associated to iron deficiency (P<0.05). CHr was the strongest predictor of iron deficiency and iron deficiency anaemia. Conclusions: Our study indicates that the measurement of CHr may be a reliable method to assess deficiencies in tissue iron supply. CHr together with a complete blood count may provide an alternative to the traditional biochemical panel for the diagnosis of iron deficiency in children (AU)

Contenido de hemoglobina reticulocitaria para el diagnóstico de la ferropenia / Reticulocyte haemoglobin content in the diagnosis of iron deficiency

Introducción: El reconocimiento del déficit de hierro es crucial para administrar un tratamiento precoz que prevenga las complicaciones multisistémicas de la anemia ferropénica. El parámetro contenido de hemoglobina reticulocitaria (CHr) ha demostrado mayor efectividad que los índices convencionales para detectar el déficit de hierro antes de su progresión a anemia en determinadas poblaciones. Los objetivos de este estudio fueron valorar la utilidad del CHr para el diagnóstico del déficit de hierro y de la anemia ferropénica en España y determinar el valor del CHr con mejor rendimiento para el diagnóstico de ferropenia. Pacientes y métodos: La muestra procedía de una población urbana de ambos sexos con una edad comprendida entre los 6 meses y los 14 años. El protocolo de estudio incluía un cuestionario y la realización de una analítica que constaba de hemograma con CHr y bioquímica del metabolismo férrico. Resultados: Se incluyeron 237 niños. La cifra del CHr correspondiente a 25pg mostró la mejor combinación de sensibilidad (90,7%) y especificidad (80,1%). En los grupos con déficit de hierro y con anemia ferropénica la media del CHr se situó por debajo de 25pg, mientras que en aquéllos con anemia no ferropénica y normal la media fue igual o superior a este valor. Conclusiones: El CHr es un parámetro hematológico útil para diagnosticar la ferropenia en la población infantil. La cifra de 25pg demostró ser el punto de corte más adecuado para identificar el déficit de hierro acompañado o no de anemia por su elevado rendimiento diagnóstico (AU)

Introduction: The detection of iron deficiency is essential in order to start early treatment to prevent long-term systemic complications of iron deficiency anaemia. Reticulocyte haemoglobin content (CHr) has been shown to be a helpful indicator for detecting iron deficiency before the development of anaemia. The objectives of this study were to evaluate the efficiency of CHr in the assessment of iron deficiency with or without anaemia and to determine the cut-off value with the best diagnostic yield. Study design: A descriptive cross-sectional study was carried out on an urban population of both sexes aged 6 months to 14 years. The study protocol included a questionnaire and taking a venous blood sample for a complete blood cell count with CHr and biochemical indicators of iron status. Results: Samples were obtained for 237 children. A CHr cut-off value of 25pg had an overall sensitivity of 90.7% and specificity of 80.1% for the diagnosis of iron deficiency with or without anaemia. The value of CHr was below 25pg in the diagnostic groups with iron deficiency and iron deficiency anaemia, and above this value in the diagnostic groups with non-iron deficient anaemia or normal. Conclusions: CHr is a useful hematological marker to identify iron deficiency and iron deficiency anaemia in childhood. A CHr value of 25pg showed the best performance to identify iron deficiency with or without anaemia (AU)

[Reticulocyte haemoglobin content in the diagnosis of iron deficiency]. / Contenido de hemoglobina reticulocitaria para el diagnóstico de la ferropenia.

INTRODUCTION: The detection of iron deficiency is essential in order to start early treatment to prevent long-term systemic complications of iron deficiency anaemia. Reticulocyte haemoglobin content (CHr) has been shown to be a helpful indicator for detecting iron deficiency before the development of anaemia. The objectives of this study were to evaluate the efficiency of CHr in the assessment of iron deficiency with or without anaemia and to determine the cut-off value with the best diagnostic yield. STUDY DESIGN: A descriptive cross-sectional study was carried out on an urban population of both sexes aged 6 months to 14 years. The study protocol included a questionnaire and taking a venous blood sample for a complete blood cell count with CHr and biochemical indicators of iron status. RESULTS: Samples were obtained for 237 children. A CHr cut-off value of 25 pg had an overall sensitivity of 90.7% and specificity of 80.1% for the diagnosis of iron deficiency with or without anaemia. The value of CHr was below 25 pg in the diagnostic groups with iron deficiency and iron deficiency anaemia, and above this value in the diagnostic groups with non-iron deficient anaemia or normal. CONCLUSIONS: CHr is a useful hematological marker to identify iron deficiency and iron deficiency anaemia in childhood. A CHr value of 25 pg showed the best performance to identify iron deficiency with or without anaemia.

[Review of haematology and biochemistry parameters to identify iron deficiency]. / Revisión de los parámetros hematológicos y bioquímicos para identificar la ferropenia.

INTRODUCTION: There has been a continuous improvement in the methods to detect iron deficiency, a common condition in children, in the last decades or so, but it is still difficult to establish which parameters should be included in a diagnostic panel for iron deficiency and iron deficiency anaemia. The objectives of this study were to evaluate the diagnostic efficiency of commonly used haematological and biochemical markers, as well as the reticulocyte haemoglobin content (CHr) in the diagnosis of iron deficiency with or without anaemia. STUDY DESIGN: A descriptive cross-sectional study was carried out on an urban population of both sexes aged 6 months to 14 years. A complete blood cell count with CHr was obtained. Biochemical markers of iron metabolism, transferrin saturation, serum iron, ferritin and total iron binding capacity were also measured. RESULTS: Samples were obtained for 237 children. A multiple stepwise logistic regression analysis identified CHr and iron serum as the only parameters independently associated to iron deficiency (P<0.05). CHr was the strongest predictor of iron deficiency and iron deficiency anaemia. CONCLUSIONS: Our study indicates that the measurement of CHr may be a reliable method to assess deficiencies in tissue iron supply. CHr together with a complete blood count may provide an alternative to the traditional biochemical panel for the diagnosis of iron deficiency in children.

Adquisición de competencias transversales en alumnos de pregrado de Ciencias de la Salud en la Universidad Complutense: una experiencia positiva / Acquisition of general skills in undergraduate students in Health Sciences in the Complutense University: a positive experience

Introducción. Presentamos los resultados de la evaluación de las Jornadas Complutenses de Investigación para alumnos de pregrado en Ciencias de la Salud, una actividad académica con dos años de experiencia y una participación de 1.434 alumnos, creada en nuestra universidad para impulsar en los alumnos de pregrado habilidades comunicativas y de metodología en investigación. Sujetos y métodos. Mediante una encuesta anónima se evaluó en los alumnos el grado de satisfacción e interés(aprender metodología científica, aprender a hablar en público, etc.) y también en los moderadores de mesas(originalidad, planteamiento metodológico, presentación iconográfica, exposición oral, viabilidad y relevancia de las comunicaciones presentadas). Resultados. En las I Jornadas se inscribieron 500 alumnos, todos de la Universidad Complutense de Madrid (UCM), y se presentaron un total de 169 comunicaciones (129 orales, 40 pósters). En las II Jornadas lo hicieron 934 alumnos, 838 de la UCM y 96 de otras nueve universidades, y se presentaron un total de286 comunicaciones (180 orales, 106 pósteres). Conclusiones. Es una actividad en la que el alumno pasa a ser un gestor activo y difusor de aprendizaje, y potencia de una manera dinámica habilidades en comunicación científica. También tiene beneficios para el profesorado y la institución universitaria, que la convierten en una ‘terapia pedagógica holística’ (AU)

Introduction. We present here the results of the appraisal of the Complutense Conference on Research for undergraduate students in Health Sciences, an academic activity which has been running for two years, with the participation of 1,434students. It was set up in this University to encourage communication skills and research methodology among undergraduate students. Subjects and methods. By means of an anonymous survey, the levels of satisfaction and interest of the students were evaluated (learning scientific methodology, learning to speak in public, etc.); similarly, that of the panel moderators (originality, methodological approach, iconographic presentation, oral presentation, viability and relevance of presentations given). Results. The First Conference had 500 registered students, all from the Complutense University of Madrid (UCM), with a total of 169 presentations(129 oral, 40 poster). In the Second Conference there were934 students, 838 from the UCM and 96 from nine other universities, with a total of 286 presentations (180 oral, poster106). Conclusions. This is an activity in which the student becomes an active manager and imparter of learning, and dynamically reinforces his or her skills in science communication. It also has benefits for teachers and the University itself, making it a ‘holistic pedagogical therapy’ (AU)

Déficit del cofactor molibdeno como causa de encefalopatía epiléptica precoz / Molybdenum cofactor deficiency as a cause of early epileptic encephalopathy

No disponible

Relaciones de la facultad de medicina con el hospital universitario. La enseñanza de la medicina clínica / Relationships between the medical school and the university hospital. The teaching of clinical medicine

Las nuevas necesidades en la formación de los futuros médicos, particularmente aquellas relacionadas con la definición, adquisición y evaluación de competencias, necesitan una potente estructura hospitalaria que soporte la docencia práctica en habilidades clínicas. El trascendente papel reservado a los hospitales universitarios significa que la institución sanitaria debe adaptarse para facilitar la implantación de una enseñanza de calidad, en aspectos estructurales y en el proceso de definición de objetivos y de evaluación de resultados a través de pruebas objetivas. Ellos implica cambios en la estructura, en la organización y en la gestión (AU)

The training of future doctors entails a series of new needs, especially in relation to the definition, acquisition and evaluation of abilities, and this requires the backing of a powerful hospital structure that ist capable of offering the practical teaching and learning of clinical skills. The fundamental role played by university hospitals means that the health care institution must adapt itself to facilitate the implementation of high quality teaching, both as regards structural aspects and in the process of defining aims and evaluationg results by means of objective testing. This involves changes in the structure, the organisation and management (AU)

[Child abuse]. / Maltrato infantil.

Aspects of interest with regard to childhood maltreatment are studied. Data (not published) of the "Instituto del Menor y la Familia de la Comunidad de Madrid" are reported from January 1999 to June 2.000: 200 cases of child neglect, 187 cases of physical abuse, 143 cases of sexual abuse and 123 of psychological abuse. Risk factors, prediction, therapy and prevention of child maltreatment are also studied.

[Physical pain and suffering in the child]. / Dolor físico y sufrimiento en el niño.

Since about ten years ago there has been a great interest in the treatment of pediatric pain, previously neglected in medical practice. A review of procedures of pain assessment is made: self-assessment, behavioural analysis and biological measurements. The main therapeutic procedures are also reviewed (drugs, physical agents and psychological treatment), emphasizing the interest of prophylaxis and parental participation in children's pain treatment.

[Infant feeding: an update]. / Alimentación del lactante: aspectos de actualidad.

The main aspects of infant feeding are studied specially LC-PUFAs and free nucleotides. LC-PUFAs are studied from the ontogenic and phylogenic points of view, specially its relations to nervous system and as origin of prostaglandins, leukotriens and thrombohexanes. Regarding free nucleotides its function as well as its capacity to activate enzymes of metabolism of LC-PUFAs are studied. Finally the need of giving intermediate elements of LC-PUFAs (DHA, AA) in prematures and normal newborns is discussed.

[The evaluation of fat and muscles of the arm in the nutritional study in pre-school children in Madrid]. / Valoración de las áreas grasa y muscular del brazo en el estudio nutricional de niños preescolares de Madrid.

OBJECTIVES: The objective of this study was to evaluate the body composition of the pre-school children in the city of Madrid as a part of their nutritional evaluation. MATERIAL AND METHODS: Seven hundred and three healthy children of both sexes were studied by means of a cross-sectional sample. The children, between 2 and 6 years of age, attended nursery schools in the city of Madrid. The study evaluated the arm muscle and fat areas through an anthropometric assessment. After measuring the triceps skinfold and the arm circumference, we obtained the arm muscle circumference, the arm area, and the arm muscle and fat areas. Once all data were gathered, they were statistically evaluated. RESULTS: The parameters studied reveal a normal distribution in the population in question. The mean values of muscle and fat areas were normal in relationship to age.

[Neopterin as marker of immunologic activation in viral and bacterial infections]. / Neopterina como marcador de la activación inmune en infecciones víricas y bacterianas.

OBJECTIVE: Neopterin is released mainly by macrophages during immune system activation. Therefore, the production of neopterin should be increased by infections and its levels in blood and urine are perhaps in relation to the type of infection. PATIENTS AND METHODS: Neopterin levels in urine were determined in 194 healthy children to obtain normal values. Levels of neopterin were also studied in 91 children with viral and 41 with bacterial infections by using high performance liquid chromatography (HPLC). The results are expressed by means of the neopterin/creatinine quotient (neopterin factor = NF). RESULTS: NF significantly increased in 95.6% of the viral infections (sensitivity of 95.6% and specificity of 92.7%) and in 40.4% of the bacterial infections (sensitivity of 40.4% and specificity of 92.7%). CONCLUSIONS: NF rises more frequently in viral than in bacterial infections, reaching higher levels earlier in the former.

[Eosinophil cationic protein in the asthmatic infant: correlation with the clinic and pulmonary function]. / Proteína catiónica del eosinófilo en el asma infantil. Correlación con la clínica y función pulmonar.

PATIENTS AND METHODS: Serum eosinophil cationic protein (ECP) was measured in 99 chronic asthmatic patients (51 males and 48 females) with a mean age of 10.59 years and correlated with the number of eosinophils, lung function, symptoms in the last 6 months and clinical scoring (that reflecting the clinical situation during the last 15 days). RESULTS: Serum ECP showed a significant correlation with the total number of eosinophils (p < 0.001, R = 0.44), clinical scoring (p < 0.05, R = 0.26), number of inhaled beta 2-agonist doses needed in the last 15 days (p < 0.05, R = 0.26), forced expiratory volume during 1 second (FEV1; p < 0.01, R = -0.27), forced vital capacity (FVC; p < 0.05, R = -0.23), maximal mid-expiratory flow (FEF25-27; p < 0.001, R = -0.37). However, there was no significant correlation between the total number of eosinophils and the clinical situation of the children or the FEV1, but we found a significant correlation with the FEF25-27. Patients with ECP < 20 had better results on lung function tests than patients with ECP > 20 (FEV1: 108.89 +/- 17.7 vs 100.5 +/- 22 (p < 0.05), FEF25-27: 93.81 +/- 24.4 vs 75.21 +/- 24.5 (p < 0.001). CONCLUSIONS: The findings of this study suggest that the ECP level is a good marker of the situation of asthma in childhood. The levels of ECP will probably be able to help us to evaluate the degree of bronchial inflammation that neither the clinical state nor the lung function define completely.

[Clinical profile, course and outcome of gastroesophageal reflux in 10 infants under active medical treatment]. / Perfil clínico, curso y evolución del reflujo gastroesofágico en 10 lactantes sometidos a tratamiento médico activo.

We have studied the clinical profile, cause and outcome of 105 infants with the diagnosis of gastroesophageal reflux. In most cases, pharmacological treatment managed to control the symptoms in 9 out of 10 infants followed in our series. Complications were described in 26.2%, of which esophagitis and chronic respiratory disease were the most common. Corrective surgery of the reflux was indicated in those cases in which pharmacological treatment was not successful. This managed to control the reflux in 90% of all cases. Morbidity was scarce. In all, 75% of the infants were considered to be medically cured within 15.5 months from the time that they were diagnosed and within 18.5 months after the appearance of the first symptoms.