Register and clinical follow-up of patients with Peutz-Jeghers syndrome in Valencia. / Registro y seguimiento clínico de pacientes con síndrome de Peutz Jeghers en Valencia.

INTRODUCTION AND OBJECTIVES: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disease caused by a germline mutation of the STK11/LKB1 gene, located on chromosome 19p13.3. It is characterized by mucocutaneous hyperpigmentation, hamartomatous polyposis, and predisposition to cancer. The aim of the present study was to identify and register patients with Peutz-Jeghers syndrome, describe the disease, and estimate its prevalence in Valencia (Spain). MATERIALS AND METHODS: A print-out of the clinical histories from 10 hospitals was obtained utilizing the ICD-9 code 759.6 from the Minimum Basic Data Set of Hospital Admissions of the Spanish Ministry of Health and Consumer Affairs. RESULTS: From a total of 405 clinical histories found, 15 (9 males and 6 females) fit the diagnostic criteria of Peutz-Jeghers syndrome. Mean age at diagnosis was 13.8 years and mean age at death was 54.2 years. Four males died, all from cancer. The estimated disease prevalence was 0.4/100,000 inhabitants. All the patients presented with anemia and polyps in the small bowel (80% in the duodenum, 66.7% in the ileum, and 40% in the jejunum), 93.3% underwent urgent surgical intervention and presented with intestinal invagination, and 40% of the patients developed cancer at a mean age of 48.5 years. CONCLUSION: The present study is the first register of patients with Peutz-Jeghers syndrome in Valencia, Spain. The ICD-9 code is nonspecific for rare diseases. The duodenum was the most frequent location for polyps and the majority of cases presented with intestinal invagination, bowel obstruction, and urgent surgical intervention. A large percentage of patients presented with cancer. It would be of interest to review and evaluate the existing surveillance protocols in the Valencian Community.

Efecto de la lactancia materna en la calidad de vida y en el desarrollo de la dermatitis atópica / Effect of breastfeeding on quality of life and on the development of atopic dermatitis

Introducción: la dermatitis atópica (DA) es una patología de prevalencia creciente y de gran repercusión social. Siendo su etiología de origen multifactorial, analizamos si factores ambientales, especialmente la lactancia materna (LM), intervienen en su desarrollo y evolución. Los objetivos son evaluar la gravedad clínica y la calidad de vida de los niños con DA, detectar diferencias en la edad de diagnóstico según el tipo de lactancia recibida y estimar la asociación de padecer DA según las variables de interés analizadas. Material y métodos: estudio de casos y controles apareado por edad y sexo en población infantil de Atención Primaria. Se realiza mediante el cumplimiento de tres cuestionarios a niños que acuden a las revisiones de salud establecidas por la Consellería de Sanidad de Valencia. Los datos recogidos se analizarán con el programa SPSS®. Resultados: la DA se presenta más precozmente en los varones. Se observó un efecto protector de la LM frente a la lactancia artificial (LA) sobre el desarrollo de la DA (odds ratio [OR]: 0,15; intervalo de confianza del 95% [IC 95%]: 0,09-0,24), frente a procesos de alergia al polen o rinitis alérgica (OR: 0,35; IC 95%: 0,17-0,73), frente a la piel seca (OR: 0,22; IC 95%: 0,14-0,36), al picor (OR: 0,50; IC 95%: 0,27-0,93) y paralelamente en la repercusión de características clínicas y en la calidad de vida (puntuación del cuestionario Índice de Calidad de Vida de la Dermatitis Atópica Infantil [ICVDAI]: 2,3 ±3,5 frente a 0,7 ±0,1; p<0,001). Conclusión: la elección de la LM mejora la calidad de vida en los niños, protege frente a la aparición de DA, de alergia al polen o rinitis alérgica y frente a algunas características clínicas cutáneas (AU)

Introduction: atopic dermatitis (AD) is a disease of increasing prevalence and of great social impact. Its etiology has a multifactorial origin, so we analyze if environmental factors, especially breastfeeding (BF) is involved in the development of AD. The objectives are to assess the clinical severity and quality of life of children with AD, to detect differences in the age of diagnosis according to the type of lactation received, and to estimate the association of atopic dermatitis to the variables of interest analyzed. Material and methods: case-control study matched by age and sex in children in Primary Care. It has been done by filling in three different questionnaires about children who come to their routine health controls established by the Valencian Community Health Service. The data collected will be analyzed with the program SPSS. Results: atopic dermatitis has an earlier diagnosis in baby boys. A protective effect of breastfeeding vs artificial feeding in the development of AD (OR: 0.15; IC 95%: 0.09-0.24) has been observed, also vs allergy to pollen or allergic rhinitis (OR: 0.35; IC 95%: 0.17-0.73), vs dry skin (OR: 0.22; IC 95%: 0.14-0.36), itching (OR: 0.50; IC 95%: 0.27-0.93) and in parallel to the clinical characteristics and impact on quality of life (questionnaire score ICVDAI: 2.3±3.5 vs 0.7±0.1; p<0.001). Conclusion: the choice of breastfeeding improves the quality of life in children, protects against the onset of atopic dermatitis, allergy to pollen or allergic rhinitis, and against some skin clinical features (AU)