RESUMEN
The microdeletion 4p16 has been found in two rare syndromes. Until now they were considered as two different syndromes: the Wolf-Hirschhorn syndrome (WHS) and the Pitt-Rogers-Danks (PRDS) syndrome characterized by a growth retardation before and after birth, microcrania, seizures, characteristic face with thin mouth, maxillary hypoplasia, short and large philtrum, characteristic nose and mental retardation. A case with 4p-16 microdeletion with phenotype characteristics similar to PRDS is reported. The patients described as PRDS are sometimes less seriously affected than patients with WHS. In fact, cases of death are not indicated in the first year of life, internal malformations are less frequent and the face lacks the typical Greek warrior helmet Recent studies have shown that WSS and PRDS are due to the absence of similar if not identical genetic segments and the clinical differences observed could be the outcome of an allele variation on the remaining homologous part.
Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas , Deleción Cromosómica , Trastornos de los Cromosomas , Cromosomas Humanos Par 4 , Anomalías Craneofaciales/genética , Trastornos del Crecimiento/genética , Humanos , Recién Nacido , Masculino , Microcefalia/genética , Fenotipo , SíndromeRESUMEN
For a number of years the measles vaccine has been tabled to be included among the compulsory vaccines with the not impossible aim of wiping out this disease. In practice, however, there have been isolated attempts to impose mass vaccination but, given that it is not compulsory, there has been a certain degree of resistance to the vaccine. In an attempt to interpret the reasons for this resistance we have identified three main causes: cultural heritage by family doctors and sometimes pediatricians ("a disease which is important to have had"). Limited information with underestimation of damaging effects of disease overemphasis of side-effects of vaccine and, among these, in particular fever which 30-35% of vaccinated children present between day 8-10, and the possible allergic reaction (chicken embryos-antibiotics). Using the latter as a starting point, we assessed the efficacy and tolerability of the Moraten Berna vaccine on 165 children aged between 10 months and 8 years. This vaccine is prepared using the Edmonston Zagreb strain cultured in diploid human cells, and does not therefore contain heterologous proteins, seroconversion was assessed in 54 of the vaccinated children (aged 10 months--3 years) by blood sample collected following an interval of between 40 and 120 days after vaccination. Anti-measles antibody titering was assayed using a neutralisation test on plates of cellular monostrate by assessing the titer (starting dilution of serum in test: 1:8). Seroconversion, as shown in table I, was obtained for all vaccinated subjects who presented a mean antibody titer of 916 mUI/ml.(ABSTRACT TRUNCATED AT 250 WORDS)