Síndromes muy poco frecuentes

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCIn an attempt to facilitate the knowledge of the malformation syndromes that have very few frequencies to pediatricians and first health care physicians, particularly to those of rural areas, we have selected six new syndromes. As in previous years, the syndromes are selected from the ECEMC database registry. In this Boletín we include the following syndromes: Townes-Bröcks, MMT, Smith-Lemli-Opitz, Coffin-Siris, Espleno-gonadal fusion, and Silver-Russell syndromes. For each syndrome, we described the most important clinical characteristics, and the present knowledge of their causal factors.N

Epidermolysis bullosa (EB): Pathogenesis, clinical, diagnostic and genetic aspects, molecular basis, epidemiological aspects, management of patients with EB and translational implications of mutation analysis

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCUnder the term "Epidermolysis Bullosa" (EB), there is a heterogeneous group of vesicular disorders that are generally congenital and of genetic origin, and affect skin and often mucosas. It is remarkable the extreme fragility of these epithelia; the vesicles arise spontaneously as well as induced by even slight trauma or the influence of high temperatures. Their content is sero-hemorrhagic and in the scarring can be very difficult. As a consecuence of the scarring processes, joint contractures and fusion of digits (pseudo-syndactyly) can occur. Pathogenetically, EB is caused by abnormal blistering at the basement membrane zone in the dermal-epidermal attachment zone and its surroundings. This is due to alterations in the attachment complexes, and some mutations have been identified in a total of 10 genes expressed in such level. Four main types of EB can be distinguished (simple, junctional, dystrophic and hemidesmosomal), depending on the level at which the cleavage that forms the bulla takes place, although about 30 subtypes have been described. The clinical characteristics or optic microscopy are not adequate for diagnosis, and it is mandatory to perform electron microscopy, immunofluorescent and immunohistochemical studies, as well as mutation analysis if available. Regarding the epidemiological aspects, in the Spanish Collaborative Study of Congenital Malformations (ECEMC), since 1976 up to December 2004, a total of 2,204,264 liveborn infants were controlled and, among them 27 cases have been identified, for a minimum frequency of 0.12 per 10,000 (95% confidence interval:0.08-0.18). It seems generally accepted that the determination of the frequency of EB is subject to multiple biases and registration of cases is always incomplete. We have also reviewed the issues related to management of EB patients by clinicians.N

Very low frequency Syndromes

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCThe aim of this chapter is to summarize updated knowledge about the clinical characteristics, etiology, genetic and molecular aspects, as well as mechanisms involved in syndromes having very low frequency, in order to promote their better recognition. During the last five years, a total of 30 syndromes have been published in this chapter of the Boletín del ECEMC. This issue includes the following selected syndromes: Crouzon, Pfeiffer, Apert, Saethre-Chotzen, Carpenter and Muenke. All share craniosynostosis as the main clinical feature but also present with other birth defects, the most important being limb malformations, specially syndactyly and polydactyly. Over 100 syndromes with craniosynostosis have been described, usually involving multiple sutures, and several of them are associated with limb malformations. The clinical overlapping between those syndromes makes difficult to perform a neonatal diagnosis, based on their clinical findings. However, molecular genetic testing, specifically of the FRGR1-3 and TWIST1 genes, could help to establish the diagnosis of some of them. Early diagnosis is important for establishing the most suitable treatment for each patient, as well as to offer an accurate genetic counselling and the possibility of preimplantational and/or prenatal diagnosis.N

Factores de riesgo de las enfermedades diarreicas agudas en menores de 5 años

Introducción: la enfermedad diarreica aguda es un problema de salud común en la población, sobre todo en países en vías de desarrollo. Es una enfermedad autolimitada que obedece a múltiples etiologías. Objetivo: identificar los factores de riesgo de enfermedad diarreica aguda en menores de cinco años. Métodos: se realizó un estudio de casos y controles, en el área de salud “Edgar Ramón Uzcátegui”, municipio Maracaibo, estado Zulia, Venezuela, durante 6 meses, en el 2007. El grupo de casos estuvo representado por 45 niños que enfermaron de diarrea aguda y el grupo control, por la misma cantidad de niños que no presentaron ninguna enfermedad en este periodo, de la misma área,  la misma edad y del mismo sexo. A ambos grupos se les aplicó una encuesta cuyos datos obtenidos se procesaron automatizadamente. Resultados: predominó la enfermedad diarreica aguda en menores de 1 año, el tipo de lactancia fue el factor que predominó en el grupo de casos. El tipo de lactancia, la higiene doméstica y el destete precoz se comportaron como riesgo fuerte para la aparición de la diarrea aguda y al modificarlos o eliminarlos se reduciría el riesgo considerablemente. La mayor proporción de prevalencia en expuestos se encontró en el factor tipo de lactancia y pudimos inferir que existía relación directa de los factores de riesgo con el evento. Conclusiones: los factores de riesgos asociados a las enfermedades diarreicas agudas en menores de 5 años fueron el tipo de lactancia utilizada, la higiene doméstica, el destete precoz, y edad menor de 1 año