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Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2008; Serie V Nº 7 

Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2008; Serie V Nº 7

Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2008 - Serie V Nº 7 

Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2008 - Serie V Nº 7

Uso de mapas de expresión génica para identificar genes candidatos de patrones clínicos morfogenéticos: Análisis de la Unidad de Desarrollo Acro-renal 

Congenital anomalies of human morphology have been classified under two criteria: 1) according to a catalogue of affected organs and systems or, 2) the pathogenic relationship explaining the detected malformations. This second approach seems to be the adequate way to look for the causal mechanism...

Síndrome de Múltiples pliegues benignos de la piel de los miembros (síndrome de bebé Michelín) 

Michelin baby is a rare syndrome characterized by generalized folds of redundant skin. These features can be present alone or be associated with noncutaneous anomalies. The diagnosis is mainly clinical and it probable reflects multiple underlying disorders. Since the first description by Ross in ...

Anomalía de Duane: Descripción y Guía Anticipatoria 

Duane anomaly is a congenital form of strabismus clinically characterized by a non-progressive ophthalmoplegia that hinds the ability to move the affected eyes horizontally outward and/or inward. Furthermore, the ocular globe retracts into the orbit, and the palpebral fissure narrows when adducti...

Síndrome de Prader-Willi por disomía uniparentalmaterna y cariotipomos 47,XX,+mar/46,XX. 

Prader-Willi syndrome (PWS) is a neurogenetic disorder that results from different abnormalities involving chromosome 15, which could have either a (q11-q13) paternal microdeletion, maternal uniparental disomy (UPD) or a defect of the imprinting centre. Recently, it has been observed that the ris...

Análisis clínico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos 

The clinical analysis of the main clinical aspects of the infants with congenital defects registered by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2007, has been performed. Among a total of 2,254,439 newborns surveyed, 35,246 (1.56%), had congenital defec...

Tratamiento farmacológico de la Toxoplasmosis durante la gestación 

Toxoplasmosis is caused by the protozoan parasite Toxoplasma gondii infection. Acute infections in pregnant women can be transmitted to the fetus and cause severe illness (mental retardation, blindness, epilepsy…). We present a review of the effectiveness of the treatment of toxoplasmosis during ...

Frecuencia de anomalías congénitas en España: Vigilancia epidemiológica en el ECEMC en el período 1980-2007 

The ECEMC (Spanish Collaborative Study of Congenital Malformations) is a research programme, based on a hospital-based, case-control registry of newborn infants in Spain. It was created in 1976 by María Luisa Martínez-Frías and since then it has surveyed a total population of more than 2.5 millio...

La Farmacogenética y la Medicina individualizada 

The last decade has seen rapid progress and development in the understanding of genetic influences that underlie inter-individual differences in drug action and drug response. Differences in DNA sequences that alter the expression or function of proteins that are targeted by drugs can contribute ...

Genética de las enfermedades del ADN mitocondrial 

The mitochondrial diseases or diseases of the oxidative phosphorylation system (OXPHOS) consist of a group of disorders originated by a deficient synthesis of ATP. OXPHOS is composed of proteins codified in the two genetic systems of the cell, the nuclear and the mitochondria genomes and, therefo...

Actividad de los Servicios de Información sobre Teratógenos (SITTE y SITE) durante el año 2007. y análisis de los datos sobre técnicas de reproducción asistida 

We present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during 2007. The total number of calls received in both services was 4,665 (834 from SITTE and 3,831 from SITE). We also analyze some aspects of ...