It was with great interest that we read the recently published artic1e by de Rubens Figueroa et al1 in REVISTA ESPAÑOLA DE CARDIOLOGÍA. The article contained a report that the most frequently observed isolated cardiac defects in Mexican children with Down syndrome are atrial septal defects and ventricular septal defects. This observation, which has been described previously,2 contrasts with rep...

Colorectal cancer (CRC) due to mismatch repair (MMR) defect has distinct characteristics among unselected CRCs. These CRCs are biologically less aggressive and, thus, showing better prognosis but less sensitive to the 5FU-based chemotherapy. CRCs with MMR defect derive from both hereditary and sporadic reasons. Germline inactivation of MMR genes (hMLH1, hMSH2, hMSH6, and hPMS2) underlies the he...

Angioedema secondary to C1 inhibitor deficiency has been rarely reported to be associated with systemic lupus erythematosus. A genetic defect of C1 inhibitor produces hereditary angioedema, which is usually presented with cutaneous painless edema, but edema of the genital area, gastrointestinal and laryngeal tracts have also been reported.In lupus patients, angioedema may be the result of an ac...

Although the molecular basis of pseudohypoparathyroidism type 1b (PHP type 1b) remains unknown, a defect in imprinting at the GNAS1 locus has been suggested by the consistent finding of paternal-specific patterns of DNA methylation on maternally inherited GNAS1 alleles. To characterize the relationship between the genetic and epigenetic defects in PHP type 1b, we analyzed allelic expression and...

down syndrome (ds) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. it is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. although the syndrome had been described thousands of years before, it was named after john langdon down who described ...