RESUMO
The pulmonary alveolocapillary dysplasia (ACD) with pulmonary vein misalignment (PVM) is a rare condition characterized by a congenital anomaly of the development of the pulmonary parenchyma. We present a case of an 8-month-old infant who died quickly from acute respiratory failure complicating an unknown ACD. We also describe its epidemiological characteristics in infants and we discuss the diagnosis's difficulties. In this case, a pulmonary arterial hypertension was decompensated by an infection. A medico-legal autopsy was performed. As for the Histological examination, it showed the features of ACD/PVM.
Assuntos
Síndrome da Persistência do Padrão de Circulação Fetal , Veias Pulmonares , Humanos , Lactente , Recém-Nascido , Diagnóstico Ausente , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico , Síndrome da Persistência do Padrão de Circulação Fetal/patologia , Alvéolos Pulmonares/anormalidades , Alvéolos Pulmonares/irrigação sanguínea , Alvéolos Pulmonares/patologia , Veias Pulmonares/anormalidades , Veias Pulmonares/patologiaRESUMO
Alleles and haplotypes frequencies for 10 Y-chromosome STR loci (DYS19, DYS385 I/II, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS438 and DYS439), included in the Y-Plex6 and Y-Plex5 kits were determined for a Tunisian population sample of 100 male individuals.
Assuntos
Cromossomos Humanos Y , Frequência do Gene , Genética Populacional , Haplótipos , Impressões Digitais de DNA/métodos , Humanos , Masculino , TunísiaRESUMO
Genotype and allele frequencies distribution for 15 PCR-based loci included in the Promega PowerPlex 16 kit were determined for a Tunisian population sample of 196 unrelated individuals.