[Study of personality and anxiety in children and adolescents with inflammatory bowel disease]. / Estudio de personalidad y ansiedad en niños y adolescentes con enfermedad inflamatoria intestinal.

OBJECTIVE: to analyze the presence of common personality traits and anxiety states in children and adolescents with inflammatory bowel disease (IBD). PATIENTS AND METHOD: Longitudinal, prospecti ve, and analytical study by applying the questionnaires Children's Personality Questionnaire, High School Personality Questionnaire, State-Trait Anxiety Inventory for Children, and State-Trait Anxie ty Inventory for patients with IBD aged between 9 and 18 years seen at reference IBD units in Ara gon, Spain. The participants excluded were those with active disease, defined as a score > 10 on the Pediatric Crohn's Disease Activity Index (PCDAI Score) or > 10 on the Pediatric Ulcerative Colitis Activity Index (PUCAI Score). RESULTS: Twenty-six patients participated (73% male). 61.5% pre sented Crohn's disease (CD) and 38.5% ulcerative colitis (UC). No patient presented active disease. The personality profile as a group was characterized by being open, emotionally stable, calm, sober, sensible, enterprising, impressionable, dependent, serene, perfectionist, and relaxed. 50% of the CD patients were enterprising versus no UC patients (p < 0.05). There were no statistically significant di fferences when comparing the remaining personality factors based on IBD type, age, or sex. Patients with CD tended to be calmer (p = 0.0511) and patients with UC more introverted (p = 0.0549). The sample presented a state anxiety level (A/E) -1.1 ± 0.8 SD compared with the population average. The level of anxiety as a feature (A/R) was -0.6 ± 1 SD. Males had significantly lower levels than females in the case of A/E (p < 0.05). CONCLUSIONS: The presence of common personality traits in the pediatric population with IBD stands out but there was no greater anxiety than in the reference population.

Expansión del triplete citosina-guanina-guanina: 3 casos de síndrome OMIM en una misma familia / Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family

Introducción: El aumento del número de repeticiones del triplete citosina-guanina-guanina (CGG), en el gen FMR1 es responsable de 3 síndromes OMIM con fenotipo clínico bien diferenciado: síndrome de X frágil (SXF) y 2 enfermedades en adultos portadores de la premutación (55-200 repeticiones CGG): insuficiencia ovárica primaria (FXPOI) y síndrome de temblor-ataxia (FXTAS) asociado al SXF. Observación clínica o métodos: Se estudió la mutación dinámica CGG del gen FMR1 en muestras de ADN de sangre periférica del caso índice y familiares de primer, segundo y tercer grado mediante TP-PCR, así como el porcentaje de metilación. Resultados: Se confirmó el diagnóstico del SXF en 3 pacientes (21,4%), 8 pacientes (57,1%) se encontraban en el rango de premutación, un paciente varón con mosaicismo premutación-mutación completa (7,1%) y 2 pacientes (14,3%) con estudio normal. De los 8 pacientes premutados, 3 presentaron FXPOI y un paciente varón FXTAS. Discusión: Nuestro estudio muestra la importancia de realizar un diagnóstico precoz del SXF y su consecuente estudio familiar y consejo genético, que permita identificar nuevos pacientes afectos o pacientes premutados con síndromes relacionados con el gen FMR1 (FXTAS, FXPOI) (AU)

Introduction: The dynamic increase in the number of triplet repeats of cytosine-guanine-guanine (CGG) in the FMR1gene mutation is responsible for three OMIM syndromes with a distinct clinical phenotype: Fragile X syndrome (FXS) and two pathologies in adult carriers of the premutation (55-200 CGG repeats): Primary ovarian insufficiency (FXPOI) and tremor-ataxia syndrome (FXTAS) associated with FXS. Clinical observation and methods: CGG mutation dynamics of the FMR1 gene were studied in DNA samples from peripheral blood from the index case and other relatives of first, second and third degree by TP-PCR, and the percentage methylation. Results: Diagnosis of FXS was confirmed in three patients (21.4%), eight patients (57.1%) were confirmed in the premutation range transmitters, one male patient with full mutation/permutation mosaicism (7.1%) and two patients (14.3%) with normal study. Of the eight permutated patients, three had FXPOI and one male patient had FXTAS. Discussion: Our study suggests the importance of making an early diagnosis of SXF in order to carry out a family study and genetic counselling, which allow the identification of new cases or premutated patients with FMR1 gene- associated syndromes (FXTAS, FXPOI) (AU)

[Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family]. / Expansión del triplete citosina-guanina-guanina: 3 casos de síndrome OMIM en una misma familia.

INTRODUCTION: The dynamic increase in the number of triplet repeats of cytosine-guanine-guanine (CGG) in the FMR1 gene mutation is responsible for three OMIM syndromes with a distinct clinical phenotype: Fragile X syndrome (FXS) and two pathologies in adult carriers of the premutation (55-200 CGG repeats): Primary ovarian insufficiency (FXPOI) and tremor-ataxia syndrome (FXTAS) associated with FXS. CLINICAL OBSERVATION AND METHODS: CGG mutation dynamics of the FMR1 gene were studied in DNA samples from peripheral blood from the index case and other relatives of first, second and third degree by TP-PCR, and the percentage methylation. RESULTS: Diagnosis of FXS was confirmed in three patients (21.4%), eight patients (57.1%) were confirmed in the premutation range transmitters, one male patient with full mutation/permutation mosaicism (7.1%) and two patients (14.3%) with normal study. Of the eight permutated patients, three had FXPOI and one male patient had FXTAS. DISCUSSION: Our study suggests the importance of making an early diagnosis of SXF in order to carry out a family study and genetic counselling, which allow the identification of new cases or premutated patients with FMR1 gene- associated syndromes (FXTAS, FXPOI).