RESUMEN
Pierre Robin sequence (PRS) consists of the nonrandom association of micrognathia, cleft palate (CP), and glossoptosis. It also includes respiratory and feeding difficulties that appear to be neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS, and the rare observations of familial nonsyndromic PRS, in which some of the affected individuals have isolated CP. We report the association of PRS with deletion 2q32.3-q33.2 due to an unbalanced reciprocal translocation 46,XX, t(2;21), del 2(q32.3q33.2), and we refine the deletion interval with regard to YAC probes and polymorphic DNA markers. The deletion was shown to be flanked by D2S369 (telomeric) and D2S315 (centromeric), thus it maps to a recently determined chromosomal region known to be nonrandomly associated with CP. This observation supports the hypothesis for the genetic bases of nonsyndromic PRS, strengthens its possible genetic association with isolated CP, and provides a candidate PRS locus, in chromosomal region 2q32.3-q33.2.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 2/genética , Síndrome de Pierre Robin/genética , Bandeo Cromosómico , Mapeo Cromosómico , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Repeticiones de Microsatélite , Síndrome de Pierre Robin/patologíaRESUMEN
BACKGROUND: To evaluate the efficiency of intraoral saccharose administration for analgesia among neonates born after at least 33 weeks of gestation. POPULATION AND METHOD: Thirty-seven neonates from two neonatal units were tested using an objective scale of infants' pain. A double blind study of the heel prick response after saccharose vs. water administration was performed. RESULTS: Prior administration of saccharose significantly reduced the pain reaction (1.24 vs. 2.24, P < 10(-5)). CONCLUSION: The analgesia obtained after an intraoral saccharose administration can be useful for repeated punctures for which common procedures of analgesia are ineffective. Beyond its use for heel prick, this procedure could be proposed for venous punctures when ELMA analgesia is not possible.