Van den Ende-Gupta syndrome (VDEGS) is a congenital condition characterized by craniofacial and skeletal manifestations, specifically blepharophimosis, malar and maxillary hypoplasia, distinctive nose, arachnocamptodactyly, and long slender bones of the hands and feet. To date, only 24 patients have been described. It is generally thought that the syndrome is transmitted by an autosomal recessive mode of inheritance, although evidence for genetic heterogeneity has recently been presented. We report on a girl followed from birth up to 3 years of life with a set of peculiar minor anomalies, arachnocamptodactyly of hands and feet, characteristic of VDEGS in association with a 22q11.12 deletion. Recently, the VDEGS gene was mapped to the DiGeorge syndrome region on 22q11.2, and homozygous mutations in the SCARF2 gene were identified. We now report the first patient with VDEGS due to compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 splice site mutation.

Justificativa e Objetivos:Sabe-se que a sífilis adquirida, no cenário epidemiológico gaúcho, configura-se como doença de extrema importância devido a sua alta prevalência e ascensão. A partir disso, o seguinte trabalho visa revisar as medidas utilizadas na assistência dos pacientes adultos e idosos com diagnóstico de sífilis adquirida e sua epidemiologia no município de Porto Alegre/RS. Conteúdo: Segundo dados publicados em 2016 pelo Ministério da Saúde, o crescimento da infecção por sífilis em indivíduos adultos e idosos está em grande expansão no Brasil. Através das conquistas pelos idosos nas últimas décadas, o prolongamento da vida sexual é ponto merecedor de destaque, além do incentivo à socialização e a falta de informação sobre saúde sexual. Conclusão:As infecções sexualmente transmis-síveis crescem nestes dois públicos e necessita-se medidas preventivas mais efetivas no âmbito da saúde pública. Descritores: Sífilis. Doenças Transmissíveis. Saúde Pública. Doenças infecciosas

Knowledge of the prevalence of congenital cytomegalovirus infection is necessary to evaluate the need for prevention. We performed a multicentre one-year study involving 11 neonatology divisions to ascertain the prevalence in Lombardy. Cytomegalovirus was isolated by culturing saliva samples from all babies born (n = 1268) of two 15-day sample periods and from 185 neonates with suspected congenital CMV based on clinical and laboratory findings and the history. The overall prevalence of congenital infection was 0.47% (6/1268) in the sample period group and 5% (9/185) in the second group. Clinical monitoring revealed sequelae in two of three children with symptomatic infection and no asymptomatic child at age two years. In a subgroup of 205 babies including 14 of the infected infants we also evaluated a test to detect cytomegalovirus DNA in the Guthrie cards obtained in neonatal screening for genetic and metabolic disorders. The test's sensitivity was 100% and specificity 98.5%, encouraging its use for early identification of infected neonates and for large epidemiological studies.

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