RESUMO
EEC syndrome is an autosomal dominant genetic disease with incomplete penetrance characterized by ectrodactyly, ectodermal dysplasia, and cleft lip/palate; these manifestations can differently occur in the affected subjects and can also be associated with other anomalies, such as in the urogenital tract.We reported the case of a newborn with prenatal diagnosis of EEC type 3 associated with severe cardiac abnormalities (Tetralogy of Fallot), high esophageal atresia with fistula and penoscrotal hypospadias.
Assuntos
Fenda Labial , Fissura Palatina , Displasia Ectodérmica , Atresia Esofágica , Hipospadia , Tetralogia de Fallot , Humanos , Recém-Nascido , Fenda Labial/genética , Fenda Labial/diagnóstico , Fissura Palatina/genética , Fissura Palatina/complicações , Fissura Palatina/diagnóstico , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Displasia Ectodérmica/complicações , Atresia Esofágica/diagnóstico , Atresia Esofágica/genética , Atresia Esofágica/complicações , Hipospadia/diagnóstico , Hipospadia/genética , Hipospadia/complicações , Mutação , Tetralogia de Fallot/complicações , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genéticaRESUMO
BACKGROUND: Optimal management of central venous catheter-related, or -associated, bloodstream infections (CRBSI or CLABSI) in children is not established. AIM: To evaluate success of catheter salvage strategies in paediatric patients. METHODS: Studies were retrieved from medical databases and article reference lists. Data were collected relating to clinical outcomes of two treatments: systemic antibiotics alone or in association with antimicrobial lock therapy (ALT). Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated from a mixed logistic effects model. Heterogeneity was summarized using I2 statistics. Publication bias was investigated by Egger's regression test and funnel plots. FINDINGS: From 345 identified publications, 19 met inclusion criteria (total of 914 attempted salvage strategies). To achieve successful catheter salvage, in CRBSI the addition of ALT was superior to systemic antibiotics alone (OR: -0.40; 95% CI: -1.41, 0.62): 77% (95% CI: 69, 85; I2 = 42.5%; P = 0.12) and 68% of success (95% CI: 59, 77; I2 = 0; P < 0.05), respectively. CRBSI recurrence was less common in studies that used ALT compared with systemic antibiotics alone: 5% (95% CI: 0, 13; I2 = 59.7%; P = 0.03) and 18% of recurrence (95% CI: 9, 28; I2 = 0; P < 0.05), respectively. Recurrences were low with both antibiotic locks and ethanol lock. No clear benefits of ALT addition compared to systemic antibiotic only were found in CLABSI (OR: -0.81; 95% CI: -0.80, 2.43). CONCLUSION: The addition of an antimicrobial lock solution to systemic antibiotic may be beneficial for successful catheter salvage in paediatric patients with CRBSI, depending on aetiology, whereas no statistically significant difference between systemic antibiotic with or without addition of an antimicrobial lock solution was found regarding CLABSI.