RESUMO
BACKGROUND: Our study aims at disclosing epidemiology and most relevant clinical features of esophageal atresia (EA) pointing to a model of multicentre collaboration. METHODS: A detailed questionnaire was sent to all Italian Units of pediatric surgery in order to collect data of patients born with EA between January and December 2012. The results were crosschecked by matching date and place of birth of the patients with those of diagnosis-related group provided by the Italian Ministry of Health (MOH). RESULTS: A total of 146 questionnaires were returned plus a further 32 patients reported in the MOH database. Basing on a total of 178 patients with EA born in Italy in 2012, the incidence of EA was calculated in 3.33 per 10,000 live births. Antenatal diagnosis was suspected in 29.5% patients. 55.5% showed associated anomalies. The most common type of EA was Gross type C (89%). Postoperative complications occurred in 37% of type C EA and 100% of type A EA. A 9.5% mortality rate was reported. CONCLUSIONS: This is the first Italian cross-sectional nationwide survey on EA. We can now develop shared guidelines and provide more reliable prognostic expectations for our patients.
Assuntos
Atresia Esofágica/epidemiologia , Diagnóstico Pré-Natal , Inquéritos e Questionários , Fístula Traqueoesofágica/epidemiologia , Adulto , Estudos Transversais , Grupos Diagnósticos Relacionados , Atresia Esofágica/diagnóstico , Feminino , Humanos , Incidência , Recém-Nascido , Itália/epidemiologia , Masculino , Gravidez , Fístula Traqueoesofágica/diagnóstico , Adulto JovemRESUMO
Pai syndrome is a rare form of frontonasal dysplasia, first described in 1987. It is a triad consisting of midline cleft of the upper lip, facial skin polyps and central nervous system lipomas. Only 14 cases have been reported in the literature. The authors describe the clinical features, diagnostic workup and treatment of two patients. A review of all cases reported in literature is presented to show the phenotypic variability of this rare syndrome.
Assuntos
Anormalidades Múltiplas/cirurgia , Doenças do Desenvolvimento Ósseo/cirurgia , Fenda Labial/cirurgia , Cartilagens Nasais/anormalidades , Pólipos Nasais/cirurgia , Septo Nasal/anormalidades , Doenças do Desenvolvimento Ósseo/complicações , Pré-Escolar , Fenda Labial/complicações , Feminino , Humanos , Lactente , Recém-Nascido , Freio Labial/anormalidades , Freio Labial/cirurgia , Cartilagens Nasais/cirurgia , Pólipos Nasais/complicações , Septo Nasal/cirurgia , Nariz/anormalidades , Nariz/cirurgia , Síndrome , Resultado do TratamentoRESUMO
A case of surgical reconstruction after penoscrotal skin avulsion is described. Penile coverage was gained by two full thickness grafts helicoidally placed to avoid retractions. Scrotal reconstruction was carried out in two steps, after testis subcutaneous implantation, with axial flaps expanded in abdominal region. The procedure has the advantage of flaps sure vitality, avoids patient discomfort produced by a perineal expansion with satisfactory cosmetic appearance and restore of a normal sexual function.
