RESUMEN
For diagnosis of Mycoplasma pneumoniae infection we compared two rapid tests, PCR and the immunoglobulin M immunofluorescence assay (IgM IFA), with culture and the complement fixation test (CFT), in a prospective study among 92 children with respiratory tract infection and 74 controls. Based on positivity of culture and/or CFT as the diagnostic criterion, nine patients (10%) were diagnosed with M. pneumoniae infection. All patients positive by culture were also positive by PCR. In all controls cultures, PCRs, and serological assays were negative, except in one with a positive IgM IFA. The IgM IFA had a low positive predictive value of 50%. Only a combination of PCR (seven patients) and CFT (seven patients) allowed diagnosis of all cases.
Asunto(s)
Mycoplasma pneumoniae/crecimiento & desarrollo , Mycoplasma pneumoniae/aislamiento & purificación , Neumonía por Mycoplasma/diagnóstico , Adolescente , Niño , Preescolar , Estudios de Evaluación como Asunto , Técnica del Anticuerpo Fluorescente Directa , Humanos , Lactante , Neumonía por Mycoplasma/microbiología , Reacción en Cadena de la Polimerasa , Estudios Prospectivos , Sensibilidad y Especificidad , Pruebas SerológicasRESUMEN
We report a case of an unusual giant congenital tumor presenting in a newborn infant as a large exophytic mass emerging from the left orbit. After enucleation orbital recurrence developed within 14 days. No anti-tumor treatment was given and the child died at the age of 4 weeks. The histopathological and cytogenetical analysis of the tumor is presented. The tumor was diagnosed as a retinoblastoma but we could not exclude the possibility of a neuroblastoma.
Asunto(s)
Neoplasias del Ojo/congénito , Neoplasias Orbitales/congénito , Retinoblastoma/congénito , Neoplasias del Ojo/patología , Humanos , Recién Nacido , Invasividad Neoplásica , Recurrencia Local de Neoplasia/patología , Neoplasias Orbitales/patología , Retinoblastoma/patologíaRESUMEN
Two unrelated patients with a de novo partial trisomy 8 (q21 leads to qter) are presented. They had strikingly similar phenotypes, characterised by a wide face with hypertelorism, a broad based nose, malformed ears, micrognathia, and a very short neck. A cleft palate, cardiac defects, and hydronephrosis were present in both patients. The relation between the 8qter syndrome and trisomy 8 (Warkany syndrome) is discussed.