[Total homocysteine levels in children with diabetes type 1. Conditional factors]. / Valores plasmáticos de homocisteína total en niños con diabetes mellitus tipo 1. Factores condicionantes.

OBJECTIVES: To measure the plasma levels of total homocysteine (tHcy) in children with type I diabetes mellitus and their relationship with the control of the disease. MATERIAL AND METHODS: We studied a total of 46 patients with ages between 4 and 19 years. The analyzed variables were: sex, age, puberty stage by Tanner, BMI, years of evolution of the illness, self-monitoring, associated diseases, tHcy, folic acid, vitamin B12, glycosylated haemoglobin (HbA1c), lipid profile and renal function. RESULTS: The mean tHcy was of 5.48 +/- 1,64 microm/l, similar to that in our control population. There was a positive correlation with tHcy when analyzing the puberty stage by the Tanner scale. The years of evolution of diabetes varied between 0.4 and 15, with a mean of 5.77 +/- 3.69, with no correlation with tHcy. The glycosylated haemoglobin mean was 7.35 %, with no correlation with tHcy. The levels of folic acid and vitamin B12 were similar to the control population. The lipid profile of our patients was normal, with no association with tHcy levels. There was no correlation between GFR and tHcy. CONCLUSIONS: A clinically correct control of children with diabetes mellitus type 1, appears to ensure a normal total homocysteinemia, with no significant differences with the healthy individuals of the same age and social environment.

Valores plasmáticos de homocisteína total en niños con diabetes mellitus tipo 1. Factores condicionantes / Total homocysteine levels in children with diabetes type 1. Conditional factors

Objetivos: Conocer las concentraciones plasmáticas de homocisteína total en niños afectados de diabetes mellitus tipo 1 y su relación con el control de la enfermedad. Material y métodos: Estudiamos un total de 46 pacientes con edades comprendidas entre los 4 y los 19 años. Las variables analizadas fueron: sexo, edad, estadio puberal de Tanner, índice de masa corporal, años de evolución de la enfermedad, autocontrol, patologías asociadas, homocisteína total (tHcy), ácido fólico, vitamina B12, hemoglobina glucosilada (HbA1c), perfil lipídico y función renal. Resultados: La homocisteína (Hcy) media fue de 5,48 ± 1,64 μm/l, similar a la de nuestra población control. Analizando el estadio puberal mediante la escala Tanner encontramos una correlación positiva con la Hcy. Los años de evolución de la diabetes oscilaban entre 0,4 y 15, con una media de 5,77 ± 3,69, sin correlación con la Hcy. La HbA1c media era del 7,35 %, sin correlación con la Hcy. Las concentraciones de ácido fólico y vitamina B12 fueron similares a la población control. El lipidograma de nuestros pacientes fue normal, sin relación con las cifras de Hcy. No hallamos correlación entre el índice de filtrado glomerular (GFR) y la Hcy. Conclusiones: Un correcto control clínico de los niños afectados de diabetes mellitus tipo 1 parece garantizar una homocisteinemia total normal, sin diferencias significativas con los individuos sanos de su misma edad y ambiente social (AU)

Objectives: To measure the plasma levels of total homocysteine (tHcy) in children with type I diabetes mellitus and their relationship with the control of the disease. Material and methods: We studied a total of 46 patients with ages between 4 and 19 years. The analyzed variables were: sex, age, puberty stage by Tanner, BMI, years of evolution of the illness, self-momitoring, associated diseases, tHcy, folic acid, vitamin B12, glycosylated haemoglobin (HbA1c), lipid profile and renal function. Results: The mean tHcy was of 5.48 ± 1,64 μm/l, similar to that in our control population. There was a positive correlation with tHcy when analyzing the puberty stage by the Tanner scale. The years of evolution of diabetes varied between 0.4 and 15, with a mean of 5.77 ± 3.69, with no correlation with tHcy. The glycosylated haemoglobin mean was 7.35 %, with no correlation with tHcy. The levels of folic acid and vitamin B12 were similar to the control population. The lipid profile of our patients was normal, with no association with tHcy levels. There was no correlation between GFR and tHcy. Conclusions: A clinically correct control of children with diabetes mellitus type 1, appears to ensure a normal total homocysteinemia, with no significant differences with the healthy individuals of the same age and social environment (AU)

Valores plasmáticos de homocisteína total en el recién nacido normal en el pretérmino. Factores condicionantes / Serum total homocysteine levels in normal and preterm newborn infants: conditioning factors

La hiperhomocisteinemia se ha involucrado en las enfermedades propias del embarazo y el parto, así como en las alteraciones fetales y del recién nacido. Para conocer el alcance real de este hecho y prevenir estas alteraciones, debemos conocer los valores normales de homocisteína total (tHcy) en los recién nacidos, tanto pretérmino como nacidos a término, y su relación con diversas variables que podrían influir en sus concentraciones. En este artículo mostramos que los niveles de tHcy están relacionados directamente con la edad gestacional y el peso de los recién nacidos

Hyperhomocysteinemis has been involved in health concerns associated with pregnancy and delivery and in fetal and neonatal anomalies. In order to determine the real implication of this fact and be able to prevent these alterations, we should know the normal values of serum total homocysteine (tHcy) in preterm and tern newborns and their relationship to different variables that could influence their concentrations. In this article, we show how tHcy levels are directly related to the gestational age and birthweight of infants

[Lumbar puncture and early neuroimaging in complex febrile seizures. Report of a case of shaken infant syndrome]. / Punción lumbar y neuroimagen precoz en las crisis febriles complejas. A proposito de un caso de síndrome de lactante sacudido.

INTRODUCTION: Febrile convulsions are one of the most frequent pathologies seen in paediatric emergencies. The diagnosis of febrile seizures is clinico evolutionary and is easily established once the acute process is overcome and a normal state is restored in the child. The differential diagnosis is established with the processes that associate fever and convulsions in children between the ages of 1 month and 6 years, many of which require specific treatment. Certain complementary examinations, essentially a blood test, lumbar puncture and neuroimaging, are needed to identify them. Shaken infant syndrome is a form of physical abuse which includes the presence of intracranial traumatic injury, retinal haemorrhage and, in general, the absence of other physical signs of traumatic injury in the child. CASE REPORT: An 8 month old infant who presented a convulsive seizure on the left side of the body which coincided with an axillary temperature of 38 C that remitted with intravenous diazepam 40 minutes after onset. An early cranial computerised tomography (CT) scan led to a diagnosis of shaken infant syndrome. DISCUSSION: This case constitutes an argument in favour of performing an early cranial CT scan in complex febrile convulsions and in prolonged or partial non provoked seizures. We highlight the risks involved in performing a lumbar puncture in the absence of suspected non complicated acute bacterial meningitis. The diagnostic usefulness of an early CT scan in diagnosing such an important problem as shaken infant syndrome must also be noted, due to the risk of repetition and its high morbidity and mortality rates.

Punción lumbar y neuroimagen precoz en las crisis febriles complejas. A propósito de un caso de síndrome de lactante sacudido / Lumbar puncture and early neuroimaging in complex febrile seizures. Report of a case of shaken infant syndrome

Introducción. Las convulsiones febriles son una de las patologías más frecuentes de las urgencias pediátricas. El diagnóstico de crisis febril es clinicoevolutivo, y se establece sin dificultad una vez superado el proceso agudo y recuperada la normalidad del niño. El diagnóstico diferencial se establece con los procesos que asocian fiebre y convulsiones en niños entre 1 mes y 6 años de edad, muchos de los cuales precisan un tratamiento específico. Para su identificación es necesaria la realización de determinados exámenes complementarios, fundamentalmente, una analítica sanguínea, punción lumbar y neuroimagen. El síndrome del lactante sacudido es una forma de maltrato físico que incluye la presencia de traumatismo intracraneal, hemorragias retinianas y, en general, la ausencia de otros signos físicos de traumatismos en el niño. Caso clínico. Lactante de 8 meses que presentó una crisis convulsiva hemicorporal izquierda que coincidía con una temperatura axilar de 38 ºC, que cedió con diacepam intravenoso a los 40 minutos del inicio. La tomografía computarizada (TAC) craneal precoz llevó al diagnóstico de síndrome del lactante sacudido. Discusión. El presente caso constituye un argumento a favor de la realización precoz de TAC craneal en las convulsiones febriles complejas y en las crisis no provocadas prolongadas o parciales. Se destacan los riesgos de la realización de punción lumbar en ausencia de sospecha de meningitis bacteriana aguda no complicada. Se destaca el valor diagnóstico de la TAC precoz en un problema tan importante de ser diagnosticado como el síndrome del lactante sacudido, debido al riesgo de repetición y su alta morbimortalidad (AU)

Introduction. Febrile convulsions are one of the most frequent pathologies seen in paediatric emergencies. The diagnosis of febrile seizures is clinico-evolutionary and is easily established once the acute process is overcome and a normal state is restored in the child. The differential diagnosis is established with the processes that associate fever and convulsions in children between the ages of 1 month and 6 years, many of which require specific treatment. Certain complementary examinations, essentially a blood test, lumbar puncture and neuroimaging, are needed to identify them. Shaken infant syndrome is a form of physical abuse which includes the presence of intracranial traumatic injury, retinal haemorrhage and, in general, the absence of other physical signs of traumatic injury in the child. Case report. An 8-month-old infant who presented a convulsive seizure on the left side of the body which coincided with an axillary temperature of 38 ºC that remitted with intravenous diazepam 40 minutes after onset. An early cranial computerised tomography (CT) scan led to a diagnosis of shaken infant syndrome. Discussion. This case constitutes an argument in favour of performing an early cranial CT scan in complex febrile convulsions and in prolonged or partial non-provoked seizures. We highlight the risks involved in performing a lumbar puncture in the absence of suspected non-complicated acute bacterial meningitis. The diagnostic usefulness of an early CT scan in diagnosing such an important problem as shaken infant syndrome must also be noted, due to the risk of repetition and its high morbidity and mortality rates (AU)

Monosomía r(13): a propósito de una nueva observación / Monosomy r(13). Report of case

Se comunica un nuevo caso de monosomía r(13) en un recién nacido varón con diagnóstico prenatal. Cuarto hijo de padres sanos y con descendencia normal. Presenta una dismorfia y múltiples malformaciones características de la afección. El estudio citogenético mostró un cariotipo 46, XY, r(13) (p11.2q32)/45, XY,-13. Nuestra observación es bastante similar a otras comunicaciones de la bibliografía y confirma la relación entre los síntomas clínicos y el segmento ausente del cromosoma 13. Se revisan los aspectos clínicos y citogenéticos de la afección (AU)

Dolor y tumefacción de la tuberosidad tibial proximal / Pain and tumefaction of tibial tuberosity

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