[Molecular diagnosis of Duchenne/Becker muscular dystrophy in Venezuelan patients with the polymerase chain reaction]. / Diagnóstico molecular en pacientes venezolanos con distrofia muscular de Duchenne/Becker mediante la reacción en cadena de la polimerasa.

Duchenne and Becker muscular dystrophy (DMD/BMD) are recessive X-linked neuromuscular diseases produced by allelic mutations in the human dystrophin gen. In the present study we determined the 14-deletion prone exons by multiplex PCR in 24 no related venezuelan patients with clinical diagnosis of DMD/BMD. We found 37% of intragenic deletions of which 77% were located at the "hot spot" deletion region that includes exons 44 to 55. The present study show that deletion frequency observed in venezuelan patients resembles some Asian populations and is lower than that observed in Europe and North America. The explanation of the low frequency detected in our patients is beyond the present study, but it is likely that different mutations, ocurring at other regions of the gene is determining a molecular heterogeneity of the DMD/BMD disease in Venezuela.

[Epidemiology of congenital malformations at the Hospital Pedro García Clara, Ciudad Ojeda, Venezuela]. / Epidemiología de malformaciones congénitas en el Hospital Pedro García Clara. Ciudad Ojeda, Venezuela.

Results from an epidemiological study of congenital malformations (CM) realized at Pedro Garcia Clara Hospital from march 1989 to december 1992 are presented. Malformation was defined as all external or internal morphological defects that could be clinically diagnosed at birth. In all births, incidence and type of CM, birth condition, sex, weight, number of pregnancies and maternal ages were analyzed. Moreover, in live births from march 1989 to august 1991, were analyzed: the type of childbirth presentation, maternal residence place, paternal age, maternal and paternal occupation and school education, parental consaguinity, previous spontaneous abortions, other malformed in the family and exposition to physical agents, medicaments, vaccines, acute and chronical diseases and vaginal bleeding in the first trimester of pregnancy. The control group were children born during the same day and sex matched as the malformed children. The incidence of CM was 23.4 per 1000 total births. Most frequent malformations were principally minor or feasible of satisfactory treatment. Major malformations were Central Nervous System anomalies, specially, neural tube deffects and Down syndrome. Only maternal age, type of childbirth, other malformed members in the family and medicaments exposition were statistically significant. Our results confirm the importance and utility of CM epidemiology monitoring.