RESUMO
Esophageal atresia (EA) with or without trachea-esophageal fistula is relatively common congenital malformation with most patients living into adulthood. As a result, care of the adult patient with EA is becoming more common. Although surgical repair has changed EA from a fatal to a livable condition, the residual effects of the anomaly may lead to a lifetime of complications. These include effects related to the underlying deformity such as atonicity of the esophageal segment, fistula recurrence, and esophageal cancer to complications of the surgery including anastomotic stricture, gastroesophageal reflux, and coping with an organ transposition. This review discusses the occurrence and management of these conditions in adulthood and the role of an effective transition from pediatric to adult care to optimize adult care treatment.
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Atresia Esofágica , Estenose Esofágica , Fístula Traqueoesofágica , Transição para Assistência do Adulto , Humanos , Adulto , Criança , Atresia Esofágica/cirurgia , Atresia Esofágica/complicações , Fístula Traqueoesofágica/cirurgia , Fístula Traqueoesofágica/complicações , Traqueia/cirurgia , Complicações Pós-Operatórias/epidemiologia , Estenose Esofágica/etiologia , Estenose Esofágica/cirurgiaRESUMO
Infants born with esophageal atresia and tracheoesophageal fistula, a complex congenital malformation occurring in 1/2500-4000 live births, may suffer threats to their cardiac, respiratory, and digestive health in addition to anomalies that may exist in the genitourinary and musculoskeletal systems. Optimal care for these patients throughout their lives is best achieved through a coordinated, multidisciplinary approach that our health care system is not always well-equipped to provide. This review, though not exhaustive, highlights the components of care that pertain to initial surgical reconstruction and subsequent diagnosis and management of the complications that are most frequently encountered. Authors from among the many specialties involved in the care of these patients summarize the current best practice with attention to the most recent advances. Assessment and improvement of quality of life and transition to adult specialists as children grow to adulthood is also reviewed.
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Atresia Esofágica , Doenças do Recém-Nascido , Fístula Traqueoesofágica , Lactente , Recém-Nascido , Criança , Humanos , Fístula Traqueoesofágica/diagnóstico , Fístula Traqueoesofágica/genética , Fístula Traqueoesofágica/cirurgia , Atresia Esofágica/complicações , Atresia Esofágica/diagnóstico , Atresia Esofágica/genética , Qualidade de Vida , Estudos RetrospectivosRESUMO
BACKGROUND: Fibrous hamartoma of infancy is a benign tumor that typically arises within the first 2 years of life in the subcutaneous and lower dermal layers. Diagnosis can be challenging as it is a rare tumor, and the imaging appearance is not well known. OBJECTIVE: To describe the imaging features in 4 cases of fibrous hamartoma of infancy focusing on ultrasound (US) and magnetic resonance (MR) findings. MATERIALS AND METHODS: In this retrospective IRB-approved study, informed consent was waived. We searched patient charts for histopathology-confirmed fibrous hamartoma of infancy diagnosis between November 2013 and November 2022. We found four cases, three boys and one girl, and the mean age was 1.4 years (5 months-3 years). The lesions were located in the axilla, posterior elbow, posterior neck, and lower back. All four patients underwent ultrasound evaluation of the lesion, and two patients also underwent MRI evaluation. The imaging findings were reviewed by consensus by two pediatric radiologists. RESULTS: US imaging revealed subcutaneous lesions with variably defined hyperechoic regions and intervening hypoechoic bands resulting in a linear "serpentine" pattern or a "multiple semicircle" pattern. MR imaging evidenced heterogeneous soft tissue masses, localized in the subcutaneous fat, and showed hyperintense fat interspersed with hypointense septations on both T1- and T2-weighted images. CONCLUSION: Fibrous hamartoma of infancy has a suggestive appearance on US with heterogeneous, echogenic subcutaneous lesions with intervening hypoechoic portions, in parallel or circumferential arrangement that can be seen as a serpentine or semicircular pattern. On MRI, interspersed macroscopic fatty components show high signal intensity on T1- and T2-weighted images and reduced signal on fat-suppressed inversion recovery images, with irregular peripheral enhancement.
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Hamartoma , Neoplasias Cutâneas , Masculino , Criança , Feminino , Humanos , Lactente , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Hamartoma/diagnóstico por imagem , PescoçoRESUMO
Infantile hemangiomas (IHs) are the most common tumors of infancy and, in rare instances, can present in the setting of congenital structural anomalies or as part of syndromic disorders. In this study, we present three cases of children with segmental IHs born with concurrent pulmonary anomalies: congenital pulmonary airway malformations and bronchopulmonary sequestration. To date, no known association between these entities and hemangiomas has been described.
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Hemangioma Capilar , Hemangioma , Humanos , Criança , Lactente , Hemangioma/complicações , Hemangioma/diagnóstico , Hemangioma/patologia , Hemangioma Capilar/complicações , Pulmão/patologiaRESUMO
It has been shown that pressure ulcer formation in critically ill paediatric patients increases morbidity and mortality. We sought to identify factors associated with pressure ulcer formation in paediatric patients on extracorporeal membrane oxygenation (ECMO). From December 2014 to 2015, we identified patients at our institution who developed a pressure ulcer to create two cohorts: ulcer and no ulcer. Variables of interest included: type of ECMO, ECMO indication, hours on ECMO, location of cannulas, volume of crystalloid and blood products received during the first 7 days or during the length of the ECMO run, albumin and lactate levels on the day of cannulation, and presence of vasopressor support or steroid therapy. Of 43 patients studied, 11 (25.5%) developed a pressure ulcer. Patients that developed ulcers were older (P = 0.001) and weighed more (P = 0.006). Femoral cannulation was more frequent in the ulcer group (36.4% vs 6.3%, P = 0.029), and duration of ECMO was longer (P = 0.007). Age, weight, duration of ECMO, and femoral cannulation may contribute to the development of pressure ulcers in children who require ECMO support. Further analysis is imperative to identify specific techniques and protocols that will prevent pressure ulcers in this critically ill population.
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Estado Terminal/terapia , Oxigenação por Membrana Extracorpórea/métodos , Úlcera por Pressão/terapia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do TratamentoRESUMO
OBJECTIVES: Hemolysis is a known complication of pediatric extracorporeal membrane oxygenation associated with renal failure and mortality. We sought to identify predictors of hemolysis in pediatric extracorporeal membrane oxygenation patients and determine its influence on outcomes. DESIGN: Retrospective, single-center study. SETTING: Urban, quaternary care center pediatric and neonatal ICU. PATIENTS: Ninety-six patients requiring extracorporeal membrane oxygenation. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Daily measurements of plasma-free hemoglobin were obtained while patients were on extracorporeal membrane oxygenation. Patients with a prior extracorporeal membrane oxygenation run, on extracorporeal membrane oxygenation for less than 24 hours, or without complete medical records were excluded from the study. Ninety-six patients met inclusion criteria, of which, 25 patients (26%) had plasma-free hemoglobin greater than 30 mg/dL. Of those patients, 15 of 25(60%) had plasma-free hemoglobin greater than 50 mg/dL, and 21 of 25(84%) occurred during the first 7 days on extracorporeal membrane oxygenation. Compared with patients without hemolysis, those with hemolysis were younger (0.2 mo [0.06-3.2 mo] vs 8.2 mo [0.6-86 mo]; p < 0.001), had a higher pericannulation international normalized ratio (3.9 [3.5-5.5] vs 2.6 [1.8-3.7]; p = 0.003), lower pericannulation platelet count (33 × 10/µL [22-42 × 10/µL] vs 61 × 10/µL [38-86 × 10/µL]; p < 0.001), and had a less negative inlet pressure (-3.5 mm Hg [-14 to 11.5 mm Hg] vs -19 mm Hg [-47 to 0 mm Hg]; p = 0.01). A greater proportion of patients with hemolysis had a heparin assay less than 0.2 mg/dL (50% vs 17%; p = 0.001) and had fluid removal via slow continuous ultrafiltration (32% vs 6%; p < 0.001). Patients with hemolysis had increased risk of in-hospital mortality (odds ratio 10.0; 95% CI 3.4-32; p < 0.001). On multivariable analysis, continuous ultrafiltration (odds ratio, 8.0; 95% CI, 1.9-42; p = 0.007) and pericannulation international normalized ratio greater than 3.5 (odds ratio, 7.2; 95% CI, 2.3-26; p = 0.001) were significantly associated with hemolysis. CONCLUSIONS: Hemolysis is a common complication of pediatric extracorporeal membrane oxygenation. We found that patients with hemolysis (plasma-free hemoglobin > 30 mg/dL) had a 10-fold increase in in-hospital mortality. In our study cohort, hemolysis was associated with continuous ultrafiltration use, but not continuous renal replacement therapy. Additionally, our results suggest that the degree of coagulopathy (international normalized ratio > 3.5) at the time of cannulation influences hemolysis. Additional prospective studies are necessary to define further strategies to prevent hemolysis and improve outcomes in pediatric extracorporeal membrane oxygenation patients.
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Oxigenação por Membrana Extracorpórea/efeitos adversos , Hemólise , Mortalidade Hospitalar , Estudos de Casos e Controles , Pré-Escolar , Oxigenação por Membrana Extracorpórea/métodos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Risco Ajustado , Fatores de RiscoRESUMO
OBJECTIVES: Standards for neuromonitoring during extracorporeal membrane oxygenation support do not currently exist, and there is wide variability in practice. We present our institutional experience at an academic children's hospital since establishment of a continuous electroencephalography monitoring protocol for extracorporeal membrane oxygenation patients. DESIGN: Retrospective, single-center study. SETTING: Neonatal ICU and PICU in an urban, quaternary care center. PATIENTS: All neonatal and pediatric patients requiring extracorporeal membrane oxygenation. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: During the study period, 70 patients were cannulated for extracorporeal membrane oxygenation and had continuous electroencephalography monitoring for greater than 24 hours. Electroencephalographic seizures were observed in 16 of 70 patients (23%), including five patients (7%) who were in status epilepticus. Among patients with continuous electroencephalography seizures, nine (56%) had subclinical nonconvulsive status epilepticus and eight (50%) had seizures in the initial 24 hours of extracorporeal membrane oxygenation support. Survival to hospital discharge was significantly greater for extracorporeal membrane oxygenation patients without seizures (74% vs 44%; p = 0.02). CONCLUSIONS: Seizures occur in a significant proportion of pediatric and neonatal extracorporeal membrane oxygenation patients, frequently in the initial 24 hours after extracorporeal membrane oxygenation cannulation. Because seizures are associated with significantly decreased survival, neuromonitoring early in the extracorporeal membrane oxygenation course is important and useful. Further studies are needed to correlate electroencephalography findings with neurologic outcome.
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Eletroencefalografia/métodos , Oxigenação por Membrana Extracorpórea/efeitos adversos , Convulsões/epidemiologia , Feminino , Mortalidade Hospitalar , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Pediátrica/estatística & dados numéricos , Masculino , Monitorização Neurofisiológica/métodos , Testes Imediatos , Prevalência , Estudos Retrospectivos , Convulsões/diagnóstico , Convulsões/etiologia , Fatores de TempoRESUMO
PURPOSE OF REVIEW: Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a congenital aerodigestive anomaly with high survival rates after surgical repair. Care should now be focused on prevention of long-term complications using appropriate surveillance techniques. RECENT FINDINGS: The incidence of gastroesophageal reflux disease (GERD) is high in patients with EA/TEF. Consequences of untreated GERD include esophagitis, strictures, and Barrett esophagus. Subjective symptoms are an unreliable indicator of presence or severity of GERD, and therefore, diagnostic testing is needed to assess esophageal heath and monitor the effectiveness of anti-reflux treatment. Esophagogastroduodenoscopy with biopsy remains the primary surveillance tool, but is invasive and not without risks. Less-invasive modalities such as multichannel intraluminal impedance and pH monitoring to assess GERD appear to correlate strongly with esophageal histology and may provide sufficient information to guide treatment. EA/TEF patients face numerous challenges that need to be considered. Routine surveillance protocols and close monitoring are warranted to assess complications. Further research is needed to delineate the frequency of esophagogastroduodenoscopy versus less-invasive and promising modalities such as multichannel intraluminal impedance-pH monitoring.
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Atresia Esofágica/complicações , Refluxo Gastroesofágico/diagnóstico , Refluxo Gastroesofágico/etiologia , Fístula Traqueoesofágica/complicações , Esôfago de Barrett/etiologia , Monitoramento do pH Esofágico/métodos , Esofagite/etiologia , Refluxo Gastroesofágico/terapia , Humanos , Manometria/métodos , Vigilância da População/métodosRESUMO
Lower-extremity ischemia is a significant complication in children on femoral venoarterial extracorporeal membrane oxygenation (VA ECMO). Our institution currently routinely uses distal perfusion catheters (DPCs) in all femoral arterial cannulations in attempts to reduce ischemia. We performed a single-center, retrospective review of pediatric patients supported with femoral VA ECMO from January 2005 to November 2015. The outcomes of patients with prophylactic DPC placement at cannulation (prophylactic DPC) were compared to a historical group with DPCs placed in response only to clinically evident ischemic changes (reactive DPC). Ischemic complication requiring invasive intervention (fasciotomy or amputation) was the primary outcome. Twenty-nine patients underwent a total of 31 femoral arterial cannulations, 17 with prophylactic DPC and 14 with reactive DPC. Ischemic complications requiring invasive intervention developed in 2 of 17 (12%) prophylactic DPC patients versus 4 of 14 (29%) reactive DPC. In the reactive DPC group, 7 of 14 (50%) had ischemic changes postcannulation, six underwent DPC placement, and three out of six of these patients still required invasive intervention. One of the seven patients had ischemic changes, did not undergo DPC, and required amputation. While a greater percentage of patients in the prophylactic group was cannulated during extracorporeal cardiopulmonary resuscitation (ECPR), statistical significance was not otherwise demonstrated. We demonstrate feasibility of superficial femoral artery (SFA) access in pediatric patients. We note fewer ischemic complications with prophylactic DPC placement, and observe that salvaging a limb with a reactive DPC was only successful 50% of the time. Although there was no statistical difference in the primary outcome between the two groups, limitations and confounding factors include small sample size and a greater percentage of patients in the prophylactic DPC group cannulated with ECPR in progress.
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Cateterismo Periférico/métodos , Oxigenação por Membrana Extracorpórea/efeitos adversos , Artéria Femoral/cirurgia , Isquemia/etiologia , Isquemia/prevenção & controle , Perna (Membro)/irrigação sanguínea , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Isquemia/terapia , Masculino , Perfusão/métodos , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemRESUMO
Bronchoalveolar lavage (BAL) has been a useful initial diagnostic tool in the evaluation of pulmonary complications after hematopoietic stem cell transplantation (HSCT); however, the diagnostic sensitivity, prevalence, and outcome after BAL versus lung biopsy (LB) in pediatric HSCT patients remains to be determined. We reviewed 193 pediatric HSCT recipients who underwent a total of 235 HSCTs. Sixty-five patients (34%) underwent a total of 101 BALs for fever, respiratory distress, and/or pulmonary infiltrates on chest radiograph and/or computed tomography scan. The 1-year probability of undergoing BAL was 43.0% after allogeneic stem cell transplantation (alloSCT) and 8.5% after autologous stem cell transplantation (autoSCT) (P = .001). Sixteen of the 193 patients (8%) patients underwent 19 LBs. The probability of undergoing LB at 1 year after HSCT was 9.3%. No grade III or IV adverse events related to either procedure were observed. Of the 101 BALs performed, 40% (n = 40) were diagnostic, with a majority revealing a bacterial pathogen. Among the 19 LBs performed, 94% identified an etiology. In multivariate analysis, myeloablative conditioning alloSCT conferred the highest risk of requiring a BAL (hazard ratio [HR],8.5; P = .0002). The probability of 2-year overall survival was 20.2% in patients who underwent BAL, 17.5% for patients who underwent biopsy, and 67.4% for patients who had neither procedure. In multivariate analysis, only the requirement of a BAL was independently associated with an increased risk of mortality (HR, 2.96; P < .0001). In summary, in this cohort of pediatric HSCT recipients, BAL and LB were used in approximately 35% and 8% of pediatric HSCTs with diagnostic yields of approximately 40% and 94%, respectively, and were both associated with poor long-term outcomes.
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Lavagem Broncoalveolar/métodos , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Pneumopatias/cirurgia , Pneumopatias/terapia , Condicionamento Pré-Transplante/efeitos adversos , Transplante Homólogo/efeitos adversos , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Pneumopatias/etiologia , MasculinoRESUMO
Pediatric pulmonary arterial hypertension (PAH) can present with a wide spectrum of disease severity. Pulmonary hypertension (PH) crises can lead to acute decompensation requiring extracorporeal membrane oxygenation (ECMO) support, including extracorporeal cardiopulmonary resuscitation (eCPR). We evaluated outcomes for pediatric PH patients requiring ECMO. A single-institution retrospective review of pediatric PAH patients with World Symposium on PH (WSPH) groups 1 and 3 requiring ECMO cannulation from 2010 through 2022 (n = 20) was performed. Primary outcome was survival to hospital discharge. Secondary outcomes were survival to decannulation and 1-year survival. Of 20 ECMO patients, 16 (80%) survived to decannulation and 8 (40%) survived to discharge and 1 year follow up. Of three patients who had two ECMO runs; none survived. There were five patients who had eCPR for the first run; one survived to discharge. The univariate logistic regression model showed that venovenous ECMO was associated with better survival to hospital discharge than venoarterial ECMO, (OR: 0.12, 95% CI: 0.01-0.86, p = 0.046). PH medications (administered before, during, or after ECMO) were not associated with survival to discharge. For children with decompensated PAH requiring ECMO, mortality rate is high, and management is challenging. While VA ECMO is the main configuration for decompensated PH, VV ECMO could be considered if there is adequate ventricular function, presence of a systemic to pulmonary shunt, or an intercurrent treatable illness to improve survival to discharge. A multidisciplinary approach with requisite expertise should be utilized on a case-by-case basis until more reliable data is available to predict outcomes.
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BACKGROUND: Institutions lack consensus on the management of patients with congenital diaphragmatic hernia (CDH) who are repaired on extracorporeal membrane oxygenation (ECMO). Our study aimed to evaluate risk factors associated with bleeding complications in patients with CDH repaired on ECMO. METHODS: A single-institution retrospective review evaluated all patients with CDH who underwent on-ECMO repair between January 2005 and December 2023. A significant bleeding complication post-repair was defined as bleeding necessitating re-operation. The association between preoperative factors and bleeding complications was evaluated. RESULTS: Forty-six patients were included. Bleeding complications developed in 11/46 (24%) patients. Birthweight (2.5 vs. 3.2 kg, p = 0.02), platelet count <100/mm3 (64% vs. 29%, p = 0.04), elevated blood urea nitrogen (BUN; 24.5 vs. 17.5 mg/dL, p = 0.05), and older age at repair (8 vs. 5 days, p = 0.04) were associated with bleeding. In univariate analysis, patients with platelets under 100/mm3 were more likely to develop a bleeding complication (OR = 4.4, p = 0.04). Patients who experienced a significant bleeding event experienced increased ECMO days (12 vs. 7 days, p < 0.01), ventilator days (31 vs. 18 days, p < 0.05), and lower survival to discharge (36% vs. 74%, p = 0.03). CONCLUSION: Among CDH patients undergoing repair on ECMO, those with lower birth weight, platelet counts under 100/mm3, elevated BUN, and older age at repair had an increased risk of a significant bleeding complication, resulting in more ECMO and ventilator days and higher mortality. Patients undergoing on-ECMO repair should have platelet count transfused to greater than 100/mm3. Patients at high risk for bleeding may benefit from early repair on ECMO. LEVEL OF EVIDENCE: Level III.
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Acute lymphoblastic leukemia (ALL) is the most common cancer in children and adolescents. Clinical presentation often reflects bone marrow involvement and consequences of bone marrow failure. Microscopic involvement of the testis is rare, occurring in about 2% of cases. We present a case of a 3-year-old child who displayed unilateral macroorchidism as the only clinical symptom of ALL. Although the patient presented with localized disease, he was treated with systemic chemotherapy without recurrence. In this report, we review the current literature on ALL testicular involvement, diagnosis, and treatment.
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Leucemia-Linfoma Linfoblástico de Células Precursoras B/tratamento farmacológico , Neoplasias Testiculares/tratamento farmacológico , Pré-Escolar , Humanos , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras B/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Neoplasias Testiculares/diagnóstico , Neoplasias Testiculares/patologiaRESUMO
INTRODUCTION: Endoscopic surveillance guidelines for patients with repaired esophageal atresia (EA) rely primarily on expert opinion. Prior to embarking on a prospective EA surveillance registry, we sought to understand EA surveillance practices within the Eastern Pediatric Surgery Network (EPSN). METHODS: An anonymous, 23-question Qualtrics survey was emailed to 181 physicians (surgeons and gastroenterologists) at 19 member institutions. Likert scale questions gauged agreement with international EA surveillance guideline-derived statements. Multiple-choice questions assessed individual and institutional practices. RESULTS: The response rate was 77%. Most respondents (80%) strongly agree or agree that EA surveillance endoscopy should follow a set schedule, while only 36% claimed to perform routine upper GI endoscopy regardless of symptoms. Many institutions (77%) have an aerodigestive clinic, even if some lack a multi-disciplinary EA team. Most physicians (72%) expressed strong interest in helping develop evidence-based guidelines. CONCLUSIONS: Our survey reveals physician agreement with current guidelines but weak adherence. Surveillance methods vary greatly, underscoring the lack of evidence-based data to guide EA care. Aerodigestive clinics may help implement surveillance schedules. Respondents support evidence-based protocols, which bodes well for care standardization. Results will inform the first multi-institutional EA databases in the United States (US), which will be essential for evidence-based care. LEVEL OF EVIDENCE: This is a prognosis study with level 4 evidence.
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Atresia Esofágica , Fístula Traqueoesofágica , Criança , Humanos , Atresia Esofágica/cirurgia , Atresia Esofágica/epidemiologia , Fístula Traqueoesofágica/cirurgia , Estudos Prospectivos , Inquéritos e QuestionáriosRESUMO
More than twenty years ago, the Accreditation Council for Graduate Medical Education and the American Board of Medical Specialties began the conversion of graduate medical education from a structure- and process-based model to a competency-based framework. The educational outcomes assessment tool, known as the Milestones, was introduced in 2013 for seven specialties and by 2015 for the remaining specialties, including pediatric surgery. Designed to be an iterative process with improvements over time based on feedback and evidence-based literature, the Milestones started the evolution from 1.0 to 2.0 in 2016. The formation of Pediatric Surgery Milestones 2.0 began in 2019 and was finalized in 2021 for implementation in the 2022-2023 academic year. Milestones 2.0 are fewer in number and are stated in more straightforward language. It incorporated the harmonized milestones, subcompetencies for non-patient care and non-medical knowledge that are consistent across all medical and surgical specialties. There is a new Supplemental Guide that lists examples, references and links to other assessment tools and resources for each subcompetency. Milestones 2.0 represents a continuous process of feedback, literature review and revision with goals of improving patient care and maintaining public trust in graduate medical education's ability to self-regulate. LEVEL OF EVIDENCE: V.
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Competência Clínica , Internato e Residência , Humanos , Criança , Estados Unidos , Educação de Pós-Graduação em Medicina , Acreditação , Avaliação EducacionalRESUMO
BACKGROUND: Extracorporeal Membrane Oxygenation (ECMO) is offered to patients with congenital diaphragmatic hernia (CDH) who are in severe respiratory and cardiac failure. We aim to describe the types of complications among these patients and their impact on survival. METHODS: A single-center, retrospective review of CDH patients cannulated onto ECMO between January 2005 and November 2020 was conducted. ECMO complications, as categorized by the Extracorporeal Life Support Organization (ELSO), were correlated with survival status. Descriptive statistics were used to compare observed complications between survivors and non-survivors. RESULTS: In our cohort of CDH neonates, 21% (54/258) were supported with ECMO, of whom, 61% (33/54) survived. Survivors and non-survivors were similar in baseline characteristics except for birthweight z-score (p = 0.043). Seventy percent of CDH neonates experienced complications during their ECMO run, with the most common categories being metabolic (48.1%) and mechanical (38.9%), followed by hemorrhage (22.2%), neurological (18.5%), renal (11.1%), pulmonary (7.4%), and cardiovascular (7.4%). The median number of complications per patient was higher in the non-survivor group (2 (IQR: 1-4) vs 1 (IQR: 0-2), p = 0.043). In addition, mechanical (57.1% vs 27.3%, p = 0.045) and renal (28.6% vs 0%, p = 0.002) complications were more common among non-survivors compared to survivors. CONCLUSION: Complications occur frequently among ECMO-treated newborns with CDH, some of which have serious long-term consequences. Survivors had higher birth weight z-scores, shorter ECMO runs, and fewer complications per patient. Mechanical and renal complications were independently associated with mortality, emphasizing the utility of more focused strategies to target fluid balance and renal protection and to prevent circuit and cannula complications.
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Oxigenação por Membrana Extracorpórea , Hérnias Diafragmáticas Congênitas , Doenças do Recém-Nascido , Estudos de Coortes , Oxigenação por Membrana Extracorpórea/efeitos adversos , Hérnias Diafragmáticas Congênitas/complicações , Hérnias Diafragmáticas Congênitas/terapia , Humanos , Recém-Nascido , Estudos RetrospectivosRESUMO
[This corrects the article DOI: 10.1016/j.xhgg.2022.100107.].
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Esophageal atresias/tracheoesophageal fistulas (EA/TEF) are rare congenital anomalies caused by aberrant development of the foregut. Previous studies indicate that rare or de novo genetic variants significantly contribute to EA/TEF risk, and most individuals with EA/TEF do not have pathogenic genetic variants in established risk genes. To identify the genetic contributions to EA/TEF, we performed whole genome sequencing of 185 trios (probands and parents) with EA/TEF, including 59 isolated and 126 complex cases with additional congenital anomalies and/or neurodevelopmental disorders. There was a significant burden of protein-altering de novo coding variants in complex cases (p = 3.3 × 10-4), especially in genes that are intolerant of loss-of-function variants in the population. We performed simulation analysis of pathway enrichment based on background mutation rate and identified a number of pathways related to endocytosis and intracellular trafficking that as a group have a significant burden of protein-altering de novo variants. We assessed 18 variants for disease causality using CRISPR-Cas9 mutagenesis in Xenopus and confirmed 13 with tracheoesophageal phenotypes. Our results implicate disruption of endosome-mediated epithelial remodeling as a potential mechanism of foregut developmental defects. Our results suggest significant genetic heterogeneity of EA/TEF and may have implications for the mechanisms of other rare congenital anomalies.
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Cancer of the colon is the second most common visceral cancer in the United States (lung cancer is the first). It is usually diagnosed in patients older than 40 years, with a peak incidence at 70 years of age. Rarely, are cases seen in the pediatric population. In this study, we report a case of a 13-year-old girl with an 11-month history of intermittent abdominal pain whose diagnosis was delayed due to vague symptoms and a low index of suspicion for this condition.
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Dor Abdominal/diagnóstico por imagem , Adenocarcinoma/diagnóstico por imagem , Carcinoma de Células em Anel de Sinete/diagnóstico por imagem , Neoplasias Retroperitoneais/diagnóstico por imagem , Dor Abdominal/patologia , Dor Abdominal/cirurgia , Adenocarcinoma/patologia , Adenocarcinoma/cirurgia , Adolescente , Carcinoma de Células em Anel de Sinete/patologia , Carcinoma de Células em Anel de Sinete/cirurgia , Evolução Fatal , Feminino , Humanos , Estadiamento de Neoplasias , Neoplasias Retroperitoneais/patologia , Neoplasias Retroperitoneais/cirurgia , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: To report an atypical presentation of pH1N1-09 influenza infection in children as fulminant myocarditis and tamponade and the successful treatment with extracorporeal membrane oxygenation. DESIGN: Case report. SETTING: Pediatric cardiac intensive care unit in a quarternary care children's hospital. PATIENTS: Two girls, 5 and 7 yrs of age, infected with pH1N1-09 influenza virus who presented in cardiogenic shock with a pericardial effusion and echocardiographic evidence of tamponade from fulminant myocarditis. INTERVENTIONS: Both patients received a pericardiocentesis. One was managed with multiple, high-dose inotropic agents, whereas the other required institution of extracorporeal membrane oxygenation. MEASUREMENTS AND MAIN RESULTS: Acute respiratory distress syndrome is the major reported clinical manifestation of pH1N1-09 influenza virus infection in hospitalized pediatric patients. In this report we describe two children with confirmed pH1N1-09 influenza infection that required intensive care for fulminant myocarditis. Neither patient had the typical symptoms of influenza-like illness, respiratory compromise, or evidence of pulmonary involvement. One child required extracorporeal membrane oxygenation. Both children survived to hospital discharge. CONCLUSIONS: pH1N1-09 influenza infection can cause fulminant myocarditis in the healthy pediatric population. The clinical presentation may be nonspecific, and the lack of pulmonary symptoms may make diagnosis difficult. Extracorporeal membrane oxygenation support may offer an effective bridge to the recovery of heart function.