Cambios en la masa ósea en una población infantil con diabetes mellitus tipo 1. Estudio longitudinal / Changes in bone mass in a paediatric population with type 1 diabetes mellitus. Longitudinal study

Objetivo: Evaluar, a lo largo de un seguimiento de 79,2 meses, el comportamiento de la densidad mineral ósea (DMO) determinada mediante Densitometría Axial Computarizada (DXA), la densidad mineral ósea volumétrica (DMOvol) y su relación con los datos antropométricos, junto con los parámetros relativos al metabolismo óseo (calcio, fósforo, fosfatasa alcalina, parathormona (PTH) y vitamina D (25-OH-D3)) en una población infantil con Diabetes Mellitus Tipo 1 (DM1) sin complicaciones microvasculares y un grupo control de referencia de similares características.Material y métodos: Inicialmente, se realizó un estudio transversal en 40 niños diabéticos (edad media 9,4±2,8 años) y 108 controles (9,3±1,5 años) para valorar las posibles diferencias entre ambas poblaciones. 26 pacientes del grupo diabético inicial, fueron reevaluados tras 79,2 meses de seguimiento.Resultados: Se observó que, al inicio, la masa ósea fue similar en los diabéticos y controles. Después del seguimiento, la DMO de los niños diabéticos era muy inferior a la esperada en población infantil no diabética.El peso, la altura y el Índice de Masa Corporal (IMC) siguieron el mismo patrón que la DMO. Los valores de calcio, fósforo, fosfatasa alcalina, PTH y vitamina D, aunque en rango de normalidad, fueron más bajos que en los controles. La fosfatasa alcalina no se incrementó en el periodo puberal.Conclusiones: El presente estudio demuestra que los niños y adolescentes con un diagnóstico reciente de DM1 tienen una DMO normal. Sin embargo, con el paso del tiempo, y sobre todo durante la adolescencia, muestran una menor ganancia de masa ósea y alteraciones en los parámetros de recambio óseo. (AU)

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

BACKGROUND: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). OBJECTIVE: The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of Spanish patients. SETTING: We studied a series of 133 index patients with 46,XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis. METHODS: The AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients. RESULTS: AR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4-8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel. CONCLUSIONS: AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.

Detección de deficiencia de yodo en el sur de España mediante el cribado del hipotiroidismo congénito / Using newborn congenital hypothyroidism screening specimens to detect iodine deficiency in three regions of Spain

Introducción: Se midió hipertirotropinemia neonatal en 3 provincias del sur de España y se analizó la repercusión de una posible deficiencia de yodo en un programa de cribado de hipotiroidismo congénito (CH, congenital hypothyroidism). Material y métodos: El estudio comprende 113.108 recién nacidos que se dividieron en 2 grupos según el momento en que se extrajo la muestra para el cribado. En 78.646 se recogió después de las 48h de vida y en 34.462 se obtuvo en el momento del nacimiento del cordón umbilical (muestras precoces). Los recién nacidos procedían de las provincias de Sevilla, Huelva y Córdoba. La tirotropina (TSH) se midió por fluorimetría a tiempo discriminado. Resultados: El porcentaje de hipertirotropinemia neonatal fue superior en Huelva (5,2%) que en Sevilla (1%) (p<0,001), hecho constatado igualmente en el grupo de muestras precoces (Huelva: 5,3%; Sevilla: 1,9%, y Córdoba: 1,7%: p<0,001). En este último grupo, el 0,3 y el 0,2% de los recién nacidos de Sevilla y Córdoba, respectivamente, presentaron TSH >20mUI/l y 10 recién nacidos tuvieron que localizarse por cada recién nacido con CH. En Huelva hubo que llamar a 17 recién nacidos por caso detectado. Conclusiones: La distribución heterogénea de las concentraciones de TSH en los recién nacidos de las 3 áreas geográficas parece indicar una ingesta de yodo irregular y deficiente. La extracción de muestras precoces más una posible deficiencia de yodo incrementa el número de falsos positivos en el programa de cribado neonatal de CH (AU)

Background: Neonatal hyperthyrotropinemia by measurements of thyrotropin (TSH) concentrations has been assessed in three different areas of Spain. The repercussions of a possible iodine deficiency in a congenital hypothyroidism screening program have also been analysed. Material and Methods: The study comprised 113,108 newborns, which were divided into two groups according to the time of blood sampling. In 78,646 newborns heel blood samples were obtained after 48h whereas in 34,462 newborns, samples were obtained at birth from the umbilical cord (early samples). Newborns came from three areas of the south of Spain, Seville, Huelva and Cordoba. TSH concentrations were measured by time-resolved fluoroimmunoassay. Results: The percentage of hyperthyrotropinemia was greater in Huelva (5.2%) than Seville (1.0%) (p<0.001), similar to that observed in early samples, which was higher in Huelva (5.3%) than in Seville (1.9%) and Cordoba (1.7%) (p<0.001). In the early samples group, 0.3% and 0.2% of the newborns from Seville and Cordoba respectively, had TSH >20mIU/L and 10 infants should have been recalled for a new sample for each case detected. While in Huelva 17 infants (0.9%) were recalled per case detected. Conclusions: The heterogeneous distribution of TSH concentrations in newborns from several geographical areas appears to indicate an irregular and deficient iodine intake. Using early samples and a possible iodine deficiency, increase false positive results in a Neonatal Screening Program of congenital hypothyroidism (AU)

Hiperglicerolemia, una seudohipertrigliceridemia: A propósito de un niño de 6 años de edad / Hyperglycerolemia, a pseudo-hypertriglyceridemia: a case report

Las últimas recomendaciones del National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol In Adults (ATP III) consideran que un aumento de la concentración de triglicéridos en suero es un factor de riesgo independiente para la enfermedad coronaria. Los métodos de cuantificación no utilizan un «blanco de glicerol» y cuantifican este alcohol junto con la concentración de triglicéridos, por lo que una deficiencia de glicerol cinasa o una disminución de la capacidad de oxidación de glicerol pueden causar falsas elevaciones de triglicéridos. Se presenta el caso de un niño con falsa hipertrigliceridemia debido a glicerolemia (AU)

Recent recommendations from the National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults, considered that an increase in serum triglyceride levels is an independent risk factor for coronary heart disease. Most enzymatic methods used in routine laboratories do not involve a glycerol blank and determine both glycerol and triglycerides. Patients with glycerol-kinase deficiency or decreased ability to oxidize glycerol may be diagnosed with a pseudo-hypertriglyceridemia. We report a case of a child with a pseudo hypertriglyceridemia (falsely elevated triglycerides) due to a hyperglycerolemia (AU)

[Hyperglycerolemia, a pseudo-hypertriglyceridemia: a case report]. / Hiperglicerolemia, una seudohipertrigliceridemia: a propósito de un niño de 6 años de edad.

Recent recommendations from the National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults, considered that an increase in serum triglyceride levels is an independent risk factor for coronary heart disease. Most enzymatic methods used in routine laboratories do not involve a glycerol blank and determine both glycerol and triglycerides. Patients with glycerol-kinase deficiency or decreased ability to oxidize glycerol may be diagnosed with a pseudo-hypertriglyceridemia. We report a case of a child with a pseudo hypertriglyceridemia (falsely elevated triglycerides) due to a hyperglycerolemia.

Talla baja normal, adaptación psicosocial y salud / Low normal height, psychosocial adaptation and health

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[Acute meningococcal disease. Its prognostic assessment]. / Enfermedad meningocócica aguda. Valoración pronóstica.

We have studied 50 children affected with acute meningococcal disease (AMD). The ages of the children varied between 4 months and 12.58 years, with a mean age of 4.58 years. By using the shock state and DIC syndrome, both of which are indications of the severity of the illness, an evaluation of the discriminatory capacity was done with regard to significantly associate variables and 3 scores, Bjorvatn, Leclerc and PRISM, throughout 8 intervals within the first 48 hours of hospital treatment. We observed a very high survival rate (98%) associated with the early treatment for shock. Leukopenia and disseminated purpura were the best variables in order to discriminate shock and DIC, respectively. The greatest capacity for the diagnosis of the shock state and DIC syndrome were registered during the 0-6 hour period and the 0-12 hour period, respectively. The prognosis improved if the child remained alive 12 hours after the treatment had begun.

[Acute meningococcal disease. Study of auditive sequelae]. / Enfermedad meningocócica aguda. Investigación de secuelas auditivas.

We have examined the auditory function in 49 children that have survived an acute meningococcal disease (AMD). Functional auditory exploration consisted of: ABR; tonal liminal audiometry or behavioral audiometry (Peep-show method, Suzuki-Ogiba ROC) depending on the age and collaboration of the patient; and impedanciometrical techniques (tympanometry, ipsi and contra-lateral stapedial reflex). Three months later, altered tests were repeated in patients that had been evaluated at a time greater than 90 days after their first day of hospitalization (n = 18). All tests were repeated in those patients that had been evaluated before 90 days from the first day of hospitalization (n = 31). No transmission or neurosensory hearing impairments were detected as a result of AMD. We consider the absence of neurosensory hearing impairment, despite the presence of significant risk factors, an important finding. These results suggest that the risk of hearing impairment could be reduced to a minimum by the early establishment of antibiotic treatment.

[Oculocerebrorenal sydrome of Lowe. Apropos of three cases]. / Síndrome oculocerebrorrenal de Lowe. A propósito de tres observaciones.

We report clinical features and course of Lowe's syndrome with regard to three cases. All of them are males and clear inherited transmission was demonstrated in patients 2 and 3 and was suggested in patient 1. Age at the moment of diagnosis oscillated between 7 and 18 years. The three cases showed weight and height percentiles under p 3. Congenital bilateral cataract and search nystagmus were found in all of them. Profound mental retardation, muscular hypotonicity and diminished or absent tendon reflexes constituted distinctive findings in the neurological area. Among renal manifestations stood out proteinuria, generalized hyperaminoaciduria and tubular renal acidosis, they carried from rickets and growth failure. Cases 1 and 2 has characteristic facies. Patient 1 died after series of recurrent bronchial and pulmonary infections: death happened during Fanconi's syndrome evolution. Cases 2 and 3 are in a stabilized period, with a longer life expectation, although they suffer from residual moderate renal failure.