RESUMO
Contrast fistulogram (FG) and distal pressure colostogram (DPCG) are standard diagnostic methods for the assessment of anorectal malformations. Pelvic magnetic resonance imaging (MRI) earned a place among essential diagnostic methods in preoperative investigations after the Currarino syndrome and a high incidence of associated spinal dysraphism were described. The aim of our study was to evaluate the possibility of substituting FG and DPCG by a modified pelvic MRI, e.g. MRI fistulogram (MRI-FG) and MRI colostogram (MRI-DPCG). The prospective study involved 29 patients with anorectal malformations who underwent a modified pelvic MRI. The length and course of fistulas and rectum, and the presence of sacral anomalies were studied on MRI images and compared with images obtained by radiologic examinations. Modified MRI brought identical results as contrast studies in 25 patients when related to the fistula and rectum length and course. MRI was more accurate for the detection of sacral anomalies. MRI-FG was the only imaging method used in the four most recent patients. The results support the assumption that conventional contrast examinations for the assessment of anorectal malformations can be replaced by MRI, thus reducing the radiation dose.
Assuntos
Canal Anal/anormalidades , Doenças do Ânus/diagnóstico , Fístula Intestinal/diagnóstico , Imageamento por Ressonância Magnética/métodos , Reto/anormalidades , Fístula Urinária/diagnóstico , Anormalidades Múltiplas , Canal Anal/patologia , Anestesia Geral , Doenças do Ânus/congênito , Doenças do Ânus/cirurgia , Colostomia , Meios de Contraste/administração & dosagem , Feminino , Humanos , Lactente , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/cirurgia , Fístula Intestinal/congênito , Fístula Intestinal/cirurgia , Masculino , Períneo/patologia , Cuidados Pré-Operatórios/métodos , Estudos Prospectivos , Fístula Retal/congênito , Fístula Retal/diagnóstico , Fístula Retal/cirurgia , Fístula Retovaginal/congênito , Fístula Retovaginal/diagnóstico , Fístula Retovaginal/cirurgia , Reto/patologia , Sacro/anormalidades , Disrafismo Espinal/diagnóstico , Disrafismo Espinal/patologia , Doenças Uretrais/congênito , Doenças Uretrais/diagnóstico , Doenças Uretrais/cirurgia , Doenças da Bexiga Urinária/congênito , Doenças da Bexiga Urinária/diagnóstico , Doenças da Bexiga Urinária/cirurgia , Fístula Urinária/congênito , Fístula Urinária/cirurgiaRESUMO
Right-sided traumatic diaphragmatic rupture in childhood is a very rare injury. Diaphragmatic rupture often manifests itself later, after an organ progressively herniates into the pleural cavity. When the patient is tubed, the ventilation pressure does not allow herniation of an organ, which occurs when the patient is ex-tubed. We present a patient with a delayed diagnose of right sided diaphragmatic rupture with a complicated post-operation state.
RESUMO
PURPOSE: Inactivating germline mutations in the RET proto-oncogene are the major genetic cause of Hirschsprung's disease (HD). In some cases, HD can be associated with medullary thyroid carcinoma (MTC) that is commonly caused by activating RET mutations. METHODS: The retrospective and prospective genetic analyses of 157 patients with HD operated on between December 1979 and June 2011 were carried out. DNA was isolated from peripheral leukocytes. HD patients and family members were tested for RET mutations by direct sequencing and single-strand conformation polymorphism methods. RESULTS: RET mutations were detected in 16 patients (10%). Association with MTC was found in two families, other eight families had a mutation with potentially high risk of MTC development and four novel mutations were detected. Total colonic aganglionosis was noted to have a high mutation detection rate (40%). Three patients underwent total thyroidectomy (two had clinical manifestation of MTC, one C-cell hyperplasia). CONCLUSION: Results show the benefit of systematic RET mutation screening in HD patients in order to identify the risk of MTC in the preclinical stage of the disease. All patients should be tested for RET mutations at least in exon 10, and now additionally in exon 11 and 13, as well.
Assuntos
Testes Genéticos/métodos , Doença de Hirschsprung/genética , Mutação , Proteínas Proto-Oncogênicas c-ret/genética , Neoplasias da Glândula Tireoide/genética , Adolescente , Adulto , Idoso de 80 Anos ou mais , Carcinoma Neuroendócrino , Análise Mutacional de DNA , Feminino , Seguimentos , Doença de Hirschsprung/complicações , Doença de Hirschsprung/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Estudos Prospectivos , Proto-Oncogene Mas , Estudos Retrospectivos , Fatores de Risco , Neoplasias da Glândula Tireoide/complicações , Neoplasias da Glândula Tireoide/diagnóstico , Fatores de TempoRESUMO
Congenital gastric outlet obstruction is a rare condition representing only 1% of all gastrointestinal atresias. Prenatal diagnosis is uncommon and mostly confined to the third trimester of cases presenting a combination of polyhydramnios with dilated stomach. We report a case of congenital gastric outlet obstruction by pyloric membrane which was diagnosed prenatally in the third trimester by sonography and magnetic resonance imaging. The anomaly appeared to be isolated, thus a favorable outcome was expected. A baby girl weighing 3,430 g was delivered spontaneously at 36 weeks. Postnatal imaging methods confirmed the presence of a congenital gastric obstruction. 21 h after delivery, the baby underwent laparotomy, at which time a malrotation and pyloric membrane were found and resolved. The postoperative course was uneventful and the baby was discharged at the age of 18 days and remains well at controls.
