RESUMO
Esophageal duplication cysts are rare congenital noncancerous growths. Symptoms of this disease are reported to be asymptomatic in approximately 70% but include respiratory symptoms such as coughing and difficulty breathing. Minimally invasive removal of these cysts without esophagectomy is typically recommended. However, when the cyst is situated in the upper mediastinum, surgical excision becomes technically challenging. Here, we report a case of an obese female patient with esophageal duplication cyst in the upper mediastinum who underwent successfully robotic-assisted complete removal of the cyst. A 50-year-old woman presented to a local clinic with a persistent cough and hoarseness lasting 4 months. A computed tomography scan revealed a large cystic tumor in the upper mediastinum, causing displacement of the trachea. The resection of the cystic tumor was safely performed with robotic assistance. The use of robotic system for the removal of esophageal duplication cyst is technically safe and feasible.
Assuntos
Cisto Esofágico , Procedimentos Cirúrgicos Robóticos , Humanos , Feminino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Robóticos/métodos , Cisto Esofágico/cirurgia , Cisto Esofágico/diagnóstico por imagem , Cisto Esofágico/complicações , Cisto Esofágico/congênito , Esôfago/cirurgia , Esôfago/anormalidades , Esôfago/diagnóstico por imagemRESUMO
AIM: Van der Zee (VdZ) described a technique to elongate the oesophagus in long-gap oesophageal atresia (LGOA) by thoracoscopic placement of external traction sutures (TPETS). Here, we describe our experience of using this technique. METHOD: Retrospective review of all LGOA + / - distal tracheo-oesophageal fistula (dTOF) cases where TPETS was used in our institutions. Data are given as medians (IQR). RESULTS: From 01/05/2019 to 01/03/2023, ten LGOA patients were treated by the VdZ technique. Five had oesophageal atresia (Gross type A or B, Group 1) and five had OA with a dTOF (type C, Group 2) but with a long gap precluding primary anastomosis. Age of first traction procedure was Group 1 = 53 (29-55) days and Group 2 = 3 (1-49) days. Median number of traction procedures = 3; time between first procedure and final anastomosis was 6 days (4-7). Four cases were converted to thoracotomy at the third procedure. Three had anastomotic leaks managed conservatively. Follow-up was 12-52 months. All patients achieved oesophageal continuity and were orally fed; no patient required an oesophagostomy. CONCLUSION: In this series, TPETS in LGOA facilitated delayed primary anastomoses and replicated the good results previously described but, in addition, was successful in cases with dTOF. We believe traction suture placement and tensioning benefit from being performed thoracoscopically because of excellent visualisation and the fact that the tension does not change when the chest is closed. Surgical and anaesthetic planning and expertise are crucial. It is now our management of choice in OA patients with a long gap with or without a distal TOF.
Assuntos
Atresia Esofágica , Técnicas de Sutura , Toracoscopia , Humanos , Atresia Esofágica/cirurgia , Estudos Retrospectivos , Toracoscopia/métodos , Masculino , Feminino , Recém-Nascido , Lactente , Fístula Traqueoesofágica/cirurgia , Tração/métodos , Resultado do Tratamento , Anastomose Cirúrgica/métodos , Esôfago/cirurgia , Esôfago/anormalidadesRESUMO
VACTERL association is diagnosed based on the non-random co-occurrence of at least 3 out of 6 congenital malformations. The prevalence is thought to be less than 1 in 10,000 to 1 in 40,000. There is no known link between VACTERL association and metopic synostosis in the literature. There were 122 operated cases of metopic synostosis at our institution from 1999 to 2023, with a 2.3:1 male-to-female ratio. The authors describe the co-occurrence of VACTERL association and metopic synostosis in 3 female patients with no identifiable genetic variants. Given that VACTERL association is a diagnosis of exclusion, other rare syndromes were considered but ultimately excluded. This suggests that the co-occurrence of VACTERL association and metopic synostosis is a potentially rare finding, and underlying pathogenic variants are yet to be identified.
Assuntos
Canal Anal , Craniossinostoses , Esôfago , Cardiopatias Congênitas , Deformidades Congênitas dos Membros , Traqueia , Feminino , Humanos , Canal Anal/anormalidades , Canal Anal/cirurgia , Craniossinostoses/genética , Craniossinostoses/cirurgia , Craniossinostoses/complicações , Esôfago/anormalidades , Esôfago/cirurgia , Cardiopatias Congênitas/cirurgia , Rim/anormalidades , Deformidades Congênitas dos Membros/genética , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Traqueia/cirurgia , Recém-NascidoRESUMO
BACKGROUND: This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis. METHODS: A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression. RESULTS: Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI95{9-20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0-4.26), having a visible perineal opening (OR 2.63; 1.21-5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47-141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram. CONCLUSION: There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted. LEVEL OF EVIDENCE: II (Prospective Cohort Study <80% follow-up).
Assuntos
Malformações Anorretais , Diagnóstico Tardio , Humanos , Irlanda/epidemiologia , Feminino , Recém-Nascido , Masculino , Reino Unido/epidemiologia , Malformações Anorretais/diagnóstico , Malformações Anorretais/cirurgia , Malformações Anorretais/epidemiologia , Estudos Prospectivos , Diagnóstico Tardio/estatística & dados numéricos , Canal Anal/anormalidades , Canal Anal/cirurgia , Reto/anormalidades , Reto/cirurgia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/diagnóstico , Seguimentos , Traqueia/anormalidades , Traqueia/cirurgia , Anus Imperfurado/cirurgia , Anus Imperfurado/diagnóstico , Lactente , Esôfago/anormalidades , Esôfago/cirurgia , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/cirurgia , Deformidades Congênitas dos Membros/epidemiologia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/cirurgia , Rim/anormalidades , Coluna Vertebral/anormalidadesRESUMO
The Kasabach-Merrit syndrome is characterized as the association of a vascular tumor, typically a caposiform hemangioendothelioma and rarely a tufted hemangioma, and a severe consumptive coagulopathy with potentially life-threatening thrombocytopenia. The severe coagulopathy with increased bleeding tendency must be considered before invasive procedures and often requires repeated platelet concentrate substitutions. We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimus was successful in terms of tumor reduction and especially reduction of platelet consumption.
Assuntos
Canal Anal , Esôfago , Cardiopatias Congênitas , Síndrome de Kasabach-Merritt , Rim , Deformidades Congênitas dos Membros , Traqueia , Humanos , Síndrome de Kasabach-Merritt/complicações , Síndrome de Kasabach-Merritt/diagnóstico , Síndrome de Kasabach-Merritt/terapia , Masculino , Recém-Nascido , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/diagnóstico , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Rim/anormalidades , Traqueia/anormalidades , Traqueia/cirurgia , Canal Anal/anormalidades , Canal Anal/cirurgia , Esôfago/anormalidades , Sirolimo/uso terapêutico , Trombocitopenia/complicações , Trombocitopenia/terapia , Trombocitopenia/diagnóstico , Trombocitopenia/congênito , Coluna Vertebral/anormalidadesAssuntos
Atresia Esofágica , Esôfago , Humanos , Atresia Esofágica/cirurgia , Esôfago/cirurgia , Esôfago/anormalidades , Recém-Nascido , LactenteRESUMO
We present a case of a preterm neonate with a type IV laryngo-tracheo-oesophageal cleft, an uncommon congenital malformation, resulting from the failure of separation of the trachea and the oesophagus during fetal development, often associated with other deformities as well. Data in the literature shows that the long-term morbidity from the entity has declined over the last decades, even though prognosis remains unfavourable for types III and IV. This report emphasizes the complex issues neonatologists are faced with, when treating neonates with this rare disorder in the first days of life, what will raise suspicion of this rare medical entity, and that direct laryngoscopy/bronchoscopy finally depicts the exact extension of the medical condition. At the same time extensive evaluation for coexisting congenital anomalies should be performed. For all the above reasons, these neonates should be treated in specialized tertiary pediatric centers for multidisciplinary prompt management, which may improve, the outcome.
Assuntos
Anormalidades Congênitas , Laringe , Laringe/anormalidades , Recém-Nascido , Humanos , Criança , Laringe/diagnóstico por imagem , Laringe/cirurgia , Traqueia/diagnóstico por imagem , Traqueia/cirurgia , Traqueia/anormalidades , Esôfago/diagnóstico por imagem , Esôfago/cirurgia , Esôfago/anormalidades , LaringoscopiaRESUMO
OBJECTIVE: Congenital heart diseases (CHD) are the most frequently associated anomalies with anorectal malformations (ARM). Nevertheless, many specific aspects of CHD in ARM patients have yet to be studied. The aims of this study were to evaluate the prevalence and distribution of CHD in neonates-infants with ARM, and to explore whether the severity of ARM, and the presence of VACTERL association, had an impact on CHD rate, severity, and timing at first cardiac surgery. STUDY DESIGN: All consecutive newborn-infants with ARM managed in our tertiary center (January-1999; December-2021) were collected from a prospective database and retrospectively analyzed. Prevalence and distribution of CHD in ARM patients were assessed. Patients were divided into groups depending on ARM severity and presence of VACTERL association. Pairwise comparison for CHD prevalence, severity, and timing at first cardiac surgery was performed between groups. RESULTS: Of 396 ARM patients identified, those with severe ARM showed a higher number of overall CHD compared to patients with non-severe ARM (36.7 % vs. 25.2 %, p = 0.032). VACTERL + patients had a significantly higher prevalence of CHD (73.4 % vs. 16.4 %; p <0.001) and major CHD (51.7 % vs. 26.9 %; p = 0.008) when compared with VACTERL-patients. Furthermore, VACTERL + patients underwent first cardiac surgery at a significantly younger age than VACTERL-patients (5.2 ± 15.2 months vs. 11.9 ± 6.3, p = 0.039). CONCLUSIONS: Patients with severe ARM had a higher number of CHD compared to patients with non-severe ARM. VATERL + patients had significantly more CHD and more severe CHD than VACTERL-patients. Early screening for CHD is strongly recommended in all newborns diagnosed with ARM before surgery. LEVEL OF EVIDENCE: III retrospective comparative study.
Assuntos
Canal Anal , Malformações Anorretais , Cardiopatias Congênitas , Deformidades Congênitas dos Membros , Reto , Centros de Atenção Terciária , Traqueia , Humanos , Cardiopatias Congênitas/epidemiologia , Canal Anal/anormalidades , Recém-Nascido , Estudos Retrospectivos , Masculino , Feminino , Malformações Anorretais/epidemiologia , Deformidades Congênitas dos Membros/epidemiologia , Traqueia/anormalidades , Reto/anormalidades , Reto/cirurgia , Prevalência , Esôfago/anormalidades , Esôfago/cirurgia , Coluna Vertebral/anormalidades , Índice de Gravidade de Doença , Anormalidades Múltiplas/epidemiologia , Rim/anormalidadesRESUMO
VACTERL association is defined as the nonrandom co-occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center. Our finding calls attention to bladder dysfunction as an additional VACTERL phenotypic component. The prevalence of bladder dysfunction is greatest in those with genital anomalies, anorectal malformations, sacral dysplasia, renal anomalies, and TSC. We propose that patients with two or more VACTERL malformations be monitored for symptoms of bladder dysfunction if one or more of the identified risk factors are present until the achievement of urinary continence.
Assuntos
Cardiopatias Congênitas , Nefropatias , Deformidades Congênitas dos Membros , Humanos , Incidência , Bexiga Urinária , Esôfago/anormalidades , Traqueia/anormalidades , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/epidemiologia , Deformidades Congênitas dos Membros/complicações , Rim/anormalidades , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/diagnóstico , Coluna Vertebral/anormalidades , Canal Anal/anormalidades , Nefropatias/complicaçõesRESUMO
BACKGROUND: In children with anorectal malformations (ARM), additional anomalies can occur within the VACTERL-association. Routine screening is of great importance for early identification and potential treatment. However, uniformity in screening protocols is lacking and only small cohorts have been described in literature. The aim of this study was to assess and describe a unique large cohort of ARM patients who underwent VACTERL screening in the neonatal period. METHODS: A retrospective mono-center cohort study was performed. Included were all neonates born between January 2000 and December 2020 who were diagnosed with ARM and screened for additional anomalies. Full screening consisted of x-ray and ultrasound of the spine, cardiac and renal ultrasound, and physical examination for limb deformities, esophageal atresia, and ARM. Criteria for VACTERL-classification were predefined according to the EUROCAT-definitions. RESULTS: In total, 216 patients were included, of whom 167 (77.3%) underwent full VACTERL-screening (66% in 2000-2006 vs. 82% in 2007-2013 vs. 86% in 2014-2020). Median age at follow-up was 7.0 years (IQR 3.0-12.8). In 103/167 patients (61.7%), additional anomalies were identified. Some 35/216 patients (16.2%) fulfilled the criteria of a form of VACTERL-association. In 37/216 patients (17.1%), a genetic cause or syndrome was found. CONCLUSIONS: The majority of ARM patients underwent full screening to detect additional anomalies (77%), which improved over time to 86%. Yet, approximately a quarter of patients was not screened, with the potential of missing important additional anomalies that might have severe consequences in the future. Forms of VACTERL-association or genetic causes were found in 16% and 17% respectively. This study emphasizes the importance of routine screening. LEVEL OF EVIDENCE: III.
Assuntos
Malformações Anorretais , Cardiopatias Congênitas , Deformidades Congênitas dos Membros , Recém-Nascido , Criança , Humanos , Pré-Escolar , Malformações Anorretais/diagnóstico , Malformações Anorretais/epidemiologia , Estudos Retrospectivos , Estudos de Coortes , Esôfago/diagnóstico por imagem , Esôfago/anormalidades , Traqueia/anormalidades , Deformidades Congênitas dos Membros/diagnóstico por imagem , Deformidades Congênitas dos Membros/epidemiologia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Rim/anormalidades , Canal Anal/diagnóstico por imagem , Canal Anal/anormalidades , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/anormalidadesRESUMO
Patients with an imperforate anus frequently present with congenital abnormalities, most commonly as a component of VACTERL (Vertebral anomalies, Anorectal malformations, Cardiac defect, Tracheo-Oesophageal fistula and Oesophageal atresia, Renal anomalies, and Limb defects) anomalies. It is, however, unusual for infants to present with a concurrent anorectal malformation (ARM) and a Bochdalek type diaphragmatic hernia. We describe an infant with an ARM and a delayed presentation of a right-sided Bochdalek type diaphragmatic hernia. In this case, the Bochdalek type diaphragmatic hernia presented 10 months after a laparoscopic-assisted anorectal plasty was performed. Despite both ARM and congenital diaphragmatic hernia known to be associated with other congenital malformations, the association of these particular congenital abnormalities in an individual patient is uncommon.
Assuntos
Malformações Anorretais , Cardiopatias Congênitas , Hérnias Diafragmáticas Congênitas , Malformações Anorretais/complicações , Malformações Anorretais/cirurgia , Esôfago/anormalidades , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/complicações , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/cirurgia , Humanos , Lactente , Coluna Vertebral/anormalidades , Traqueia/anormalidadesRESUMO
BACKGROUND: Serpentine-like syndrome (SLS) is a rare foetal abnormality, characterized by brachioesophagus, secondary intrathoracic stomach and vertebral deformity. Herein, we report a case of SLS diagnosed based on imaging, genetic examination and autopsy findings. CASE PRESENTATION: From the 19th to 23rd weeks of gestation, the foetus presented with brachioesophagus, secondary intrathoracic stomach, intrathoracic spleen with poly-spleen malformation, spinal deformity and diaphragm dysplasia, and some abdominal organs were partly located in the thoracic cavity. After extensive counselling, the couple opted to terminate the pregnancy. Whole genome sequencing and autopsy were performed. Then, the foetus was diagnosed with SLS. DISCUSSION AND CONCLUSIONS: SLS is characterized by multiorgan deformities and is associated with poor prognosis. Multiorgan deformities can be detected on prenatal sonography using three-dimensional ultrasound technology.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/diagnóstico , Esôfago/anormalidades , Doenças Fetais/diagnóstico , Coluna Vertebral/anormalidades , Baço/anormalidades , Estômago/anormalidades , Aborto Induzido , Adulto , Autopsia , Feminino , Humanos , Imageamento por Ressonância Magnética , Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal/métodos , Disrafismo Espinal/diagnóstico , Síndrome , Ultrassonografia Pré-Natal/métodosRESUMO
INTRODUCTION: The VACTERL association is a rare malformation complex, showing at least three anomalies of the following organ systems: vertebra, anorectum, heart and vessels, trachea and esophagus, genitourinary tract, and limbs. In addition to a multifactorial event, congenital vascular disorders are also discussed as triggers for the VACTERL association. The aim of this study was to determine whether there is a genetic background for vascular disorders triggering VACTERL association. MATERIALS AND METHODS: We performed a functional analysis on whole exome sequencing data of 21 patients with VACTERL or VACTERL-like phenotype using the online analysis tool "Database for Annotation, Visualization and Integrated Discovery (DAVID) v6.8." The study was approved by the institutional ethics committee (approval no. 026-13). Written informed consent was obtained from all patients or their parents. RESULTS: We identified a total of 86 genetic variants (in 75 genes) classified as damaging (including probably damaging missense, nonsense, and frameshift variants), which are associated to cardiovascular development. Each investigated patient showed at least one damaging variant in genes associated to cardiovascular development. These variants were further reduced by significance in cardiovascular development to 39 genetic variants (in 33 genes). Of note, a pair of siblings, both presenting with cardiac and renal defects, had the same damaging variant in two different genes. CONCLUSION: Our results indicate a genetic background for congenital vascular disorders in patients with VACTERL association. In line with the literature, our data suggest that genetic mutation led to vascular diseases, which in turn may cause malformations similar to the VACTERL association.
Assuntos
Cardiopatias Congênitas , Doenças Vasculares , Canal Anal/anormalidades , Esôfago/anormalidades , Cardiopatias Congênitas/genética , Humanos , Rim/anormalidades , Deformidades Congênitas dos Membros , Coluna Vertebral/anormalidades , Traqueia/anormalidadesRESUMO
BACKGROUND: Congenital multisystemic lesions with co-occurrence of non-random malformations, such as VACTERL-H or MURCS association, often pose serious threads to the newborn and still constitute an antenatal diagnostic dilemma. CASE REPORT: A malformed fetus with VACTERL-H association at 20 gestational weeks had a skin-covered neural tube defect (NTD) of the lower cervical spine, concomitant hydrocephalus, as well as unilateral multicystic dysplastic kidney and the suspicion of mullerian duct anomaly as potentially assigned to MURCS association. DISCUSSION/CONCLUSION: We were able to demonstrate how well-defined, standardized volumetric reconstruction of diagnostic views displaying fetal pathology in utero might aid early and precise diagnosis of multi-organ malformations. Application of modern diagnostic imaging tools is helpful in delineation of the most likely diagnoses (VACTERL-H vs. MURCS) as further specified during detailed pathologic work-up and might consequently facilitate individually tailored interdisciplinary counseling, as in the case presented here.
Assuntos
Anormalidades Múltiplas , Cardiopatias Congênitas , Hidrocefalia , Deformidades Congênitas dos Membros , Rim Displásico Multicístico , Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Canal Anal/anormalidades , Anormalidades Cardiovasculares , Anormalidades Congênitas , Anormalidades do Sistema Digestório , Esôfago/anormalidades , Feminino , Feto/patologia , Doenças Genéticas Ligadas ao Cromossomo X , Cardiopatias Congênitas/patologia , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/patologia , Rim/anormalidades , Rim/patologia , Deformidades Congênitas dos Membros/diagnóstico , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/patologia , Rim Displásico Multicístico/complicações , Rim Displásico Multicístico/diagnóstico , Rim Displásico Multicístico/patologia , Anormalidades Musculoesqueléticas , Gravidez , Coluna Vertebral/anormalidades , Coluna Vertebral/patologia , Traqueia/anormalidadesRESUMO
BACKGROUND: The jejunal interposition is our preferred esophageal replacement route when the native esophagus cannot be reconstructed. We report the evolution of our approach and outcomes. METHODS: The study was a single-center retrospective review of children undergoing jejunal interposition for esophageal replacement. Outcomes were compared between historical (2010-2015) and contemporary cohorts (2016-2019). RESULTS: Fifty-five patients, 58% male, median age 4 years (interquartile range 2.4-8.3), with history of esophageal atresia (87%), caustic (9%) or peptic (4%) injury, underwent a jejunal interposition (historical cohort n = 14; contemporary cohort n = 41). Duration of intubation (11 vs 6 days; P = .01), intensive care unit (22 vs 13 days; P = .03), and hospital stay (50 vs 27 days; P = .004) were shorter in the contemporary cohort. Anastomotic leaks (7% vs 5%; P = .78), anastomotic stricture resection (7% vs 10%; P = .74), and need for reoperation (57% vs 46%; P = .48) were similar between cohorts. Most reoperations were elective conduit revisions. Microvascular augmentation, used in 70% of cases, was associated with 0% anastomotic leaks vs 18% without augmentation; P = .007. With median follow-up of 1.9 years (interquartile range 1.1, 3.8), 78% of patients are predominantly orally fed. Those with preoperative oral intake were more likely to achieve consistent postoperative oral intake (87.5% vs 64%; P = .04). CONCLUSION: We have made continuous improvements in our management of patients undergoing a jejunal interposition. Of these, microvascular augmentation was associated with no anastomotic leaks. Despite its complexity and potential need for conduit revision, the jejunal interposition remains our preferred esophageal replacement, given its excellent long-term functional outcomes in these complex children who have often undergone multiple procedures before the jejunal interposition.
Assuntos
Doenças do Esôfago/cirurgia , Esôfago/cirurgia , Jejuno/cirurgia , Adolescente , Adulto , Anastomose Cirúrgica , Criança , Pré-Escolar , Doenças do Esôfago/congênito , Doenças do Esôfago/diagnóstico por imagem , Doenças do Esôfago/etiologia , Esôfago/anormalidades , Esôfago/diagnóstico por imagem , Feminino , Humanos , Jejuno/diagnóstico por imagem , Masculino , Estudos Retrospectivos , Adulto JovemRESUMO
Inflammatory myofibroblastic tumors (IMT) are rare and poorly understood inflammatory neoplasms. Most commonly occurring in the liver and gastrointestinal tract, cases of bladder involvement have been rarely reported. Bladder IMT generally presents with gross hematuria and can be differentiated from other bladder tumors by expression of anaplastic lymphoma kinase. We report the occurrence of an Bladder IMT detected following lower urinary tract reconstruction with bladder augmentation.
Assuntos
Canal Anal/anormalidades , Esôfago/anormalidades , Cardiopatias Congênitas/cirurgia , Rim/anormalidades , Deformidades Congênitas dos Membros/cirurgia , Miofibroma/diagnóstico , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Neoplasias da Bexiga Urinária/diagnóstico , Actinas/metabolismo , Canal Anal/cirurgia , Quinase do Linfoma Anaplásico/metabolismo , Criança , Esôfago/cirurgia , Hematúria/etiologia , Humanos , Rim/cirurgia , Masculino , Miofibroma/complicações , Miofibroma/metabolismo , Coluna Vertebral/cirurgia , Traqueia/cirurgia , Bexiga Urinária/cirurgia , Neoplasias da Bexiga Urinária/complicações , Neoplasias da Bexiga Urinária/metabolismo , Bexiga Urinaria Neurogênica/complicaçõesRESUMO
We describe a previously unreported bronchopulmonary foregut malformation wherein a segment of a bronchus of the lower lobe of the left lung in a 4-year-old girl was entirely esophageal in structure. No communication was identified between the tracheobronchial tree and the esophagus by radiologic examination or at surgery. The esophagus-like bronchus was associated with an adjacent atretic bronchus and a downstream cavity in the lower lobe of the left lung. The child sought clinical attention because of recurrent pulmonary infections localized to the lower lobe of the lung. We posit that this esophagus-like bronchus is a novel noncommunicating bronchopulmonary foregut malformation.
Assuntos
Brônquios/anormalidades , Esôfago/anormalidades , Brônquios/patologia , Brônquios/cirurgia , Pré-Escolar , Esôfago/patologia , Esôfago/cirurgia , Feminino , Humanos , PneumonectomiaRESUMO
BACKGROUND: Esophageal neuroendocrine carcinoma (ENEC) is an extremely rare type of tumor characterized by a high malignant potential, rapid growth, and poor prognosis. Because the standard therapy for ENEC has been poorly defined, we herein aimed to attain a clear view of the current state of treatment for ENEC by performing a large-scale, multicenter study. METHODS: We conducted a questionnaire-based, retrospective clinical review of 142 patients with ENEC treated at 37 hospitals accredited by the Japan Esophageal Society from January 2010 to December 2015. RESULTS: The most frequent main treatment performed was an operation, followed by chemoradiotherapy, chemotherapy, and endoscopic submucosal dissection. Among the 67 patients who underwent surgery, 28 (19.7%) were not accurately diagnosed with NEC or a combined NEC tumor by pretreatment biopsy. The 5-year overall survival rate of all patients was 33.2%. Among patients with Stages III and IV disease, the prognosis was significantly better in patients who underwent chemoradiotherapy than in patients who underwent other treatments. Among patients with Stages I and II disease, however, there was no difference in survival rates between those who underwent surgery and chemoradiotherapy. CONCLUSIONS: This nationwide survey is a valuable report of the current status of treatment of ENEC in a limited number of cases experienced at each participating institution. The survival benefit obtained from surgery was considered to be limited, especially for Stages III and IV ENEC. Accurate pretreatment histological diagnosis is essential to determine the most appropriate treatment strategy for patients with ENEC.
Assuntos
Carcinoma Neuroendócrino/terapia , Esôfago/anormalidades , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Neuroendócrino/epidemiologia , Esôfago/fisiopatologia , Feminino , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Estatísticas não Paramétricas , Inquéritos e Questionários , Taxa de SobrevidaRESUMO
Communicating bronchopulmonary foregut malformations (CBPFMs) are complex and rare anomalies. Their characteristic feature is an anomalous communication between the respiratory system (trachea, lung or bronchus) on one side and the gastrointestinal tract (oesophagus or stomach) on the other. Though acquired CBPFMs are known, the large majority of them are congenital and single. CBPFMs often go undetected even at surgery and require more than one operation before they are successfully addressed. This is because the symptomatology of CBPFM resembles the more common oesophageal atresia (OA) with tracheoesophageal fistula, wherein it may coexist. We report a patient with OA who had a rare form of CBPFM where the upper lobe of the right lung communicated with the upper oesophagus. This account highlights a novel method of working out the uncertain anatomy, in such cases. There may be associated anomalies of the lung parenchyma and vasculature usually involving the pulmonary arterial supply to the affected lung. Clinical, radiological, endoscopic and pathological characterisation permit precise diagnosis in most instances, with an occasional case that defies definition.
Assuntos
Anormalidades Múltiplas/diagnóstico , Esôfago/anormalidades , Pulmão/anormalidades , Pneumonia/etiologia , Fístula Traqueoesofágica/diagnóstico , Administração Oral , Sulfato de Bário/administração & dosagem , Broncoscopia , Pré-Escolar , Meios de Contraste/administração & dosagem , Diagnóstico Diferencial , Endoscopia do Sistema Digestório , Esôfago/diagnóstico por imagem , Feminino , Humanos , Pulmão/diagnóstico por imagem , Recidiva , Tomografia Computadorizada por Raios X , Fístula Traqueoesofágica/cirurgiaRESUMO
In order to investigate the diagnostic value of prenatal ultrasound parameters and signs of pouch and lower thoracic esophagus in the fetus with esophageal atresia (EA), the prenatal ultrasound data of 35 EA fetuses (observation group) confirmed by autopsy after induced labor or postnatal surgery and imaging examination in our hospital from May 2019 to May 2021 were retrospectively analyzed and compared with 35 normal postnatal fetuses (control group). General information and prenatal ultrasound parameters of the two groups, including head circumference (HC), abdominal circumference (AC), double parietal diameter (BPD), fetal body weight (EFW), and signs (small or unmanifested gastric vesicles, amniotic fluid, neck or upper chest pouch, lower chest esophagus not visible), were analyzed using logistic regression. The logistic multifactor regression model for EA diagnosis was established, and the diagnostic value for EA was analyzed. As a result, the HC, AC, and EFW of the observation group were lower than those of the control group, the gastric bubbles were small or not displayed, the amniotic fluid was more, and the signs of neck or upper chest pouch and lower chest esophagus were not visible in the observation group (P < 0.05). Logistic regression analysis showed that decreased ultrasound parameters HC, AC, EFW, small or no gastric bubble, amniotic fluid, neck or upper chest pouch, and no visible signs of lower chest esophagus were all risk factors for EA (P < 0.05). And in the prenatal ultrasound diagnostic model of EA was established, logistic (P) = -19.851 + HC × 0.384 + AC × 0.682 + EFW × 0.695 + small or no gastric vesicle × 3.747 + amniotic fluid × 3.607 + cervical or upper chest sac × 4.104 + invisible lower thoracic esophagus × 4.623.When logistic (P) > 0.468, AUC was 0.891, χ2 was 7.764, diagnostic sensitivity was 91.24%, and specificity was 79.22%. To draw a conclusion, prenatal ultrasound parameters and signs are of great value in the diagnosis of EA. Independent influencing factors of EA include small or no HC, AC, EFW and gastric vesicles, polyhydramnios, neck or upper chest pouch, and invisible lower thoracic esophagus. Logistic multifactor regression model has a high coincidence rate for the prenatal diagnosis of EA, providing a basis for clinical decision-making.