Heterogeneidad clínica y genética del hiperinsulinismo congénito / Clinical and genetic heterogeneity of congenital hyperinsulinism

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Síndrome de Turner: análisis de 42 casos / Turner syndrome: Study of 42 cases

Antecedentes y objetivo: El síndrome de Turner (ST) se asocia con talla baja, disgenesia gonadal y monosomía parcial o total del cromosoma X. Pacientes y métodos: Se realizó un estudio de cohortes histórico de las pacientes con ST≤18 años seguidas en los hospitales públicos de Castilla y León. Resultados: Se registraron 42 pacientes (diagnóstico prenatal 11,9%, neonatal 14,3%) con una edad media actual de 11,9±4,2 años. La talla baja fue el motivo de consulta en el 87,1%. El 40,5% presentaban monosomía total del cromosoma X. La enfermedad asociada más frecuente fue la oftalmológica (50%), con problemas cardiacos en el 23,8%. El 93% reciben tratamiento congrowth hormone (GH, «hormona de crecimiento»), con una edad media al inicio de 7,43±3,4 años y una DE media de talla de −2,84±1,08. Solamente 10 pacientes han alcanzado talla final (talla media 151,47±6,09cm). La edad cronológica media de inducción puberal fue 13,2 años±0,94 años (edad ósea 12,47±1,17). Conclusiones: Uno de los datos clave para el diagnóstico fue la talla baja acompañada en algunos casos de otros hallazgos, siendo el tratamiento con GH efectivo (AU)

Background and objective: Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. Patients and methods: A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y Leon was undertaken. Results: Forty-two female patients were included (prenatal diagnosis 11.9%, neonatal diagnosis 14.3%) with current median age 11.9±4.2 years. Short stature was the reason for consultation in 87.1%. Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. Ninety-three percent were treated with growth hormone (GH), mean age at the beginning of treatment was 7.43±3.4 years and mean height standard deviation was −2.84±1.08. Final height was reached in 10 patients only (mean final height 151.47±6.09cm). Chronological age of puberty induction was 13.2±0.94 years (bone age 12.47±1.17 years) (AU)

[Turner syndrome: Study of 42 cases]. / Síndrome de Turner: análisis de 42 casos.

BACKGROUND AND OBJECTIVE: Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. PATIENTS AND METHODS: A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y Leon was undertaken. RESULTS: Forty-two female patients were included (prenatal diagnosis 11.9%, neonatal diagnosis 14.3%) with current median age 11.9±4.2 years. Short stature was the reason for consultation in 87.1%. Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. Ninety-three percent were treated with growth hormone (GH), mean age at the beginning of treatment was 7.43±3.4 years and mean height standard deviation was -2.84±1.08. Final height was reached in 10 patients only (mean final height 151.47±6.09cm). Chronological age of puberty induction was 13.2±0.94 years (bone age 12.47±1.17 years). CONCLUSIONS: Short stature was an important clinical sign for the diagnosis of TS, accompanied in some cases by other findings, with good response to GH treatment.

Valoración de la coordinación y el equilibrio en niños prematuros / Evaluation of coordination and balance in preterm children

INTRODUCCIÓN: Estudios recientes demuestran que muchos niños prematuros sin secuelas neurológicas aparentes presentan dificultades en diferentes áreas, como la coordinación o el equilibrio, durante la etapa escolar. El Movement Assessment Battery for Children-2 (MABC-2) constituye una herramienta validada para la valoración de la coordinación, mientras que la estabilometría sería la prueba gold standard para el equilibrio. Pacientes y método: Estudio de casos y controles realizado en niños prematuros de 7-10 años y controles sanos nacidos a término de la misma edad. En ambos grupos se aplicó la franja de edad número 2 del MABC-2 y se analizó el equilibrio estático mediante estabilometría. RESULTADOS: Se incluyeron 89 sujetos: 30 prematuros de peso al nacimiento ≤ 1.500 g, 29 prematuros de peso > 1.500 g y 30 controles. Los prematuros obtuvieron peores puntuaciones totales de forma global en destreza manual y equilibrio en el MABC-2, independientemente del peso al nacimiento. La menor edad gestacional supuso la obtención de peores puntuaciones en destreza manual y scores totales en el MABC-2. El equilibrio fue similar mediante la estabilometría, independientemente de la prematuridad. CONCLUSIONES: Algo más de un 10% de prematuros y controles podría tener trastornos de la coordinación o estar en riesgo de desarrollarlos empleando el MABC-2. A pesar de que la coordinación visomotriz fue similar, los prematuros podrían tener mayores dificultades en destreza manual, mientras que en ausencia de comorbilidad neurológica, el equilibrio postural parece ser equiparable al de los controles sanos de su misma edad

INTRODUCTION: Recent studies show that many preterm children without apparent neurological sequelae present some difficulties in different areas, such as coordination or balance during their school years. The Movement Assessment Battery for Children-2 (MABC-2) has demonstrated to be a useful tool to validate the coordination, while the stabilometric platform was the reference standard test for validating the balance. PATIENTS AND METHOD: Case-control study carried out on preterm children from 7 to 10 years old and healthy term infant controls of the same ages. The same age band of MABC-2 was applied and the static balance by the stabilometric platform was analysed. RESULTS: A total of 89 subjects were included, 30 preterm children ≤ 1,500 g birthweight, 29 preterm children > 1,500 g birthweight, and 30 controls. Preterm children obtained the lowest scores on an overall basis in hand dexterity and balance tests in MABC-2, regardless of their birthweight. Lower gestational age was associated with poorer outcomes in hand dexterity and total scores in MABC-2. Balance results were similar using the stabilometric platform, regardless of prematurity. CONCLUSIONS: A little more than 10% preterm and term children could have coordination disorders or be at risk of developing them using the MABC-2. Despite the visual-motor coordination being similar, preterm children could face greater difficulties in hand dexterity while, in the absence of neurological comorbidity, preterm and term children balance could be comparable

[Evaluation of coordination and balance in preterm children]. / Valoración de la coordinación y el equilibrio en niños prematuros.

INTRODUCTION: Recent studies show that many preterm children without apparent neurological sequelae present some difficulties in different areas, such as coordination or balance during their school years. The Movement Assessment Battery for Children-2 (MABC-2) has demonstrated to be a useful tool to validate the coordination, while the stabilometric platform was the reference standard test for validating the balance. PATIENTS AND METHOD: Case-control study carried out on preterm children from 7 to 10 years old and healthy term infant controls of the same ages. The same age band of MABC-2 was applied and the static balance by the stabilometric platform was analysed. RESULTS: A total of 89 subjects were included, 30 preterm children≤1,500g birthweight, 29 preterm children>1,500g birthweight, and 30 controls. Preterm children obtained the lowest scores on an overall basis in hand dexterity and balance tests in MABC-2, regardless of their birthweight. Lower gestational age was associated with poorer outcomes in hand dexterity and total scores in MABC-2. Balance results were similar using the stabilometric platform, regardless of prematurity. CONCLUSIONS: A little more than 10% preterm and term children could have coordination disorders or be at risk of developing them using the MABC-2. Despite the visual-motor coordination being similar, preterm children could face greater difficulties in hand dexterity while, in the absence of neurological comorbidity, preterm and term children balance could be comparable.