Mortalidad y enfermedades asociadas al síndrome de Down en el primer año de vida: Experiencia de la Policlínica Interdisciplinaria de Atención al niño con síndrome de Down del Servicio de Recién Nacidos del Centro Hospitalario Pereira Rossell / Mortality and disease associated with Down syndrome in the first year of life

Introducción: la Policlínica Interdisciplinaria de Atención al Niño con síndrome de Down brinda asistencia desdeel nacimiento hasta el segundo año de vida.Objetivo: describir la mortalidad observada y las enfermedades asociadas diagnosticadas en el primer año devida en los niños con síndrome de Down atendidos en la policlínica.Material y métodos: niños con síndrome de Down nacidos o derivados al Servicio de Recién Nacidos del CentroHospitalario Pereira Rossell desde el 7 de enero de 2003 al 30 de abril del 2005.Resultados: se asistieron 45 niños. 22 madres eran mayores de 35 años (48,9%). En un caso se realizódiagnóstico prenatal (2,2%). Fallecieron ocho niños (17,8%). En 36 niños se observaron malformaciones asociadas (80,0%). Presentaron cardiopatía congénita 32 niños (71,1%), de los cuales requirieron tratamientoquirúrgico 11 (34,4%). Se diagnosticó hipotiroidismo congénito en un niño (2,2%). De los 37 niños quesobrevivieron al año se detectó hipotiroidismo entre los 6 meses y el año en 8 (21,6%).Conclusiones: la atención por un grupo interdisciplinario permite responder a los múltiples problemas queenfrentan estos niños y sus familias. Permitió un diagnóstico temprano de las enfermedades presentes en estospacientes. Se destaca la alta mortalidad, la alta incidencia de cardiopatía congénita e hipotiroidismo observado.

Introduction: an Interdisciplinary Center for the Attention of Children with Down syndrome provides services forchildren until the age of 2.Objective: describe the mortality incidence and the associated diseases during the first year of life in children withDown syndrome.Material and methods: children with Down syndrome born or derived to the Pereira Rossell Neonatology Servicefrom January 7, 2003 until April 30, 2005.Results: 45 children were assisted. 22 mothers (48,9%) were over 35 years old. Only in one case (2,2%) aprenatal diagnosis was done. 8 children died (17,8%). Associated malformations were observed in 36 children(80%). 32 children (71,1%) had congenital heart disease and 11 (34,4%) required surgery. One children (2,2%)had congenital hypothyroidism. From the 37 children alive after one year, eight had hypothyroidism.Conclusions: these children and families multiple problems are confronted in a better way by an interdisciplinarygroup. This allowed an earlier diagnosis of the different problems. There is a high mortality and a high incidence ofcardiac and thyroid problems.

Regulation of pituitary hormones and cell proliferation by components of the extracellular matrix

The extracellular matrix is a three-dimensional network of proteins, glycosaminoglycans and other macromolecules. It has a structural support function as well as a role in cell adhesion, migration, proliferation, differentiation, and survival. The extracellular matrix conveys signals through membrane receptors called integrins and plays an important role in pituitary physiology and tumorigenesis. There is a differential expression of extracellular matrix components and integrins during the pituitary development in the embryo and during tumorigenesis in the adult. Different extracellular matrix components regulate adrenocorticotropin at the level of the proopiomelanocortin gene transcription. The extracellular matrix also controls the proliferation of adrenocorticotropin-secreting tumor cells. On the other hand, laminin regulates the production of prolactin. Laminin has a dynamic pattern of expression during prolactinoma development with lower levels in the early pituitary hyperplasia and a strong reduction in fully grown prolactinomas. Therefore, the expression of extracellular matrix components plays a role in pituitary tumorigenesis. On the other hand, the remodeling of the extracellular matrix affects pituitary cell proliferation. Matrix metalloproteinase activity is very high in all types of human pituitary adenomas. Matrix metalloproteinase secreted by pituitary cells can release growth factors from the extracellular matrix that, in turn, control pituitary cell proliferation and hormone secretion. In summary, the differential expression of extracellular matrix components, integrins and matrix metalloproteinase contributes to the control of pituitary hormone production and cell proliferation during tumorigenesis.