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We describe a case of anaphylaxis during administration of intravenous (IV) ferumoxytol as a magnetic resonance imaging (MRI) contrast agent in a 4-year-old patient with complicated past medical history including YARS genetic mutation with resultant liver failure and deceased donor liver transplantation, stage IV chronic kidney disease (CKD), and hypertension. The patient was noted to have labored breathing 4 min after initiation of ferumoxytol infusion and was subsequently rapidly intubated and returned to the intensive care unit (ICU) for monitoring. Anaphylactic reactions to therapeutic doses of ferumoxytol led to issuance of a black box warning by the FDA in 2015. Adverse reactions to lower-dose ferumoxytol used in diagnostic imaging, however, are rare and there has been a paucity of documented anaphylactic reactions in the literature.
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Anafilaxia , Medios de Contraste , Óxido Ferrosoférrico , Imagen por Resonancia Magnética , Humanos , Anafilaxia/inducido químicamente , Preescolar , Medios de Contraste/efectos adversos , Óxido Ferrosoférrico/efectos adversos , Óxido Ferrosoférrico/administración & dosificación , MasculinoRESUMEN
BACKGROUND: Isolated fallopian tube torsion (IFTT) is a rare form of adnexal torsion that is more difficult to diagnose, which may lead to delays in treatment. Our objectives were to identify clinical and radiologic factors associated with surgically-confirmed IFTT and compare them with those of patients without torsion and with adnexal torsion (AT) in a large pediatric population. METHODS: We conducted a retrospective chart review of all patients who underwent surgery for suspected adnexal torsion from 2016 to 2019. Torsion was determined intraoperatively, with IFFT defined as those with only tubal but no ovarian torsion and AT defined as those with ovarian torsion, with or without involvement of the ipsilateral fallopian tube. Clinical and radiologic variables were compared between patients with IFTT and those without torsion and with AT using descriptive statistics. A previously-described composite score to predict torsion based on the presence of vomiting and adnexal volume (VVCS) was calculated for each patient. RESULTS: Of 291 patients who underwent surgery for suspected torsion, 168 had confirmed torsion: 33 (19.6%) IFTT and 135 (80.4%) AT. Patients with IFTT were more likely to be younger (12.8 vs. 14.2 years, P = 0.02), premenarchal (29.0% vs. 10.7%, P = 0.009), experience nausea (90.6% vs. 70.9%, P = 0.02) and vomiting (81.3% vs. 32.8%, P < 0.001), have a paratubal cyst on imaging (18.8% vs. 2.5%, P = 0.003), and have larger adnexal volume (143.3 vs. 64.9 ml, P < 0.001) than those without torsion. Higher BMI (26.6 vs. 22.9 kg/m2, P = 0.03), a paratubal cyst on imaging (18.8% vs. 1.5%, P < 0.001), presence of arterial (65.5% vs. 44.1%, P = 0.04) and venous Doppler flow (79.3% vs. 55.9%, P = 0.02), and radiologic impression indicating lack of torsion (37.9% vs. 16.8%, P = 0.04) were more common in IFTT than AT. The accuracy of the VVCS in predicting torsion for the IFFT group was 83.9%. CONCLUSIONS: IFTT has a similar clinical presentation to AT but with a higher likelihood of a paratubal cyst and preserved Doppler flow on imaging. IFTT should be strongly considered in patients who present with pain, nausea, and vomiting and have an adnexal mass separate from the ovary on imaging, regardless of Doppler flow. LEVEL OF EVIDENCE: Level II. TYPE OF STUDY: Prognosis study.
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Enfermedades de las Trompas Uterinas , Anomalía Torsional , Humanos , Femenino , Estudios Retrospectivos , Niño , Anomalía Torsional/cirugía , Anomalía Torsional/diagnóstico , Adolescente , Enfermedades de las Trompas Uterinas/cirugía , Enfermedades de las Trompas Uterinas/complicaciones , Torsión Ovárica/cirugía , Factores de RiesgoRESUMEN
STUDY OBJECTIVE: The study objective was to apply a previously created composite score for the prediction of adnexal torsion in children and adolescents to a larger group of heterogeneous patients to test its validity and to refine this scoring system to more accurately predict adnexal torsion. METHODS: This was a retrospective chart review at a tertiary care children's hospital and its affiliates. Participants were female patients 0-20 years of age who underwent surgery for suspected adnexal torsion from 2016 to 2019. Data were collected from outpatient, emergency department, and inpatient notes, radiographic data, and operative reports. The primary outcome was the accuracy and predictive value of the total composite score (TCS) to identify or exclude adnexal torsion. RESULTS: Of the 291 patients with suspected adnexal torsion who went to the operating room during the study period, 168 (57.8 %) had confirmed adnexal torsion. The accuracy of the TCS, which included presence of vomiting, adnexal volume, and adnexal ratio, in predicting or excluding torsion was 83.6 % for all patients, 92.1 % for premenarchal patients, and 81.3 % for menarchal patients. A variation of the TCS that included only vomiting and adnexal volume had an accuracy of 85.8 %. CONCLUSIONS: Our study demonstrates the accuracy and reproducibility of a previously published composite score to predict adnexal torsion in children and adolescents. It also further refines this score to a potentially more clinically useful tool. Future studies are needed to prospectively evaluate these composite scores and their implementation in clinical settings. LEVEL OF EVIDENCE: III.
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Enfermedades de los Anexos , Niño , Humanos , Femenino , Adolescente , Masculino , Enfermedades de los Anexos/diagnóstico por imagen , Enfermedades de los Anexos/cirugía , Torsión Ovárica , Estudios Retrospectivos , Anomalía Torsional/diagnóstico , Anomalía Torsional/cirugía , Reproducibilidad de los Resultados , VómitosRESUMEN
BACKGROUND: We present an unusual case of a left axillary lymph node metastasis from a primary dedifferentiated endometrial carcinoma. This pattern of metastasis is likely the result of circulating tumor cells reaching the node through its arterial blood supply. CASE PRESENTATION: In this report, a 68-year-old white woman with a dedifferentiated endometrial carcinoma underwent a hysterectomy. She later developed an enlarged axillary lymph node due to metastatic dedifferentiated endometrial carcinoma, treated with chemotherapy and anti-programmed cell death protein 1 immunotherapy resulting in a complete clinical and radiological response. CONCLUSION: A review of the literature reveals the rarity of blood-borne lymph node metastasis, especially with uterine carcinoma. Immunotherapy has shown promising results in the treatment of some subtypes of metastatic uterine carcinoma.
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Carcinoma , Neoplasias Endometriales , Femenino , Humanos , Anciano , Metástasis Linfática/patología , Ganglios Linfáticos/diagnóstico por imagen , Ganglios Linfáticos/patología , Carcinoma/patología , Neoplasias Endometriales/terapia , Neoplasias Endometriales/patología , HisterectomíaRESUMEN
Introducción: la prevalencia de la desnutrición en la población con cáncer infantil puede variar notablemente, elemento que influye de manera significativa en el desenlace clínico de los pacientes. No obstante, este es un factor pronóstico potencialmente modificable y para ello se requiere una identificación del riesgo nutricional oportuna que oriente el proceso de cuidado nutricional. Objetivo: evaluar el rendimiento operativo de la versión en español de la escala de tamización nutricional para el cáncer infantil (SCAN-SP) en el marco del proceso de validación del instrumento en un hospital de alta complejidad en la ciudad de Bogotá, Colombia. Métodos: se siguió el diseño metodológico para la validación de una escala diagnóstica. La muestra final fue de 96 pacientes entre los 0 y 17 años con cáncer y hospitalizados en el Centro de Cáncer Infantil de la Fundación HOMI en Bogotá. A cada paciente se le aplicó la SCAN-SP y también se le realizó una valoración nutricional completa (VNC) tomada como patrón de referencia para conocer su estado nutricional. Resultados: el 82,3 % (n = 79) de los pacientes fueron clasificados como con riesgo de desnutrición por la SCAN-SP y el 69,8 % (n = 67) del total de la muestra estaban realmente desnutridos. La evaluación del rendimiento operativo de la SCAN-SP contra la VNC mostro excelentes resultados: sensibilidad del 100 %, especificidad del 59 %, VPP del 85 %, VPN del 100 %, RVP de 2,4 y una RVN de 0. Conclusión: la escala SCAN-SP tiene un buen comportamiento como herramienta de tamización nutricional en el paciente pediátrico con cáncer, por lo que se recomienda su uso en la práctica clínica. (AU)
Introduction: the prevalence of undernutrition in the pediatric cancer population can vary considerably, an element that significantly influences the clinical outcome of patients. However, this is a potentially modifiable prognostic factor, which requires timely identification of nutritional risk to guide the nutritional care process. Objectives: to evaluate the operational performance of the Spanish version of the nutritional screening tool for childhood cancer (SCAN) in the context of the validation process of this instrument in a high-complexity hospital in the city of Bogotá, Colombia. Methods: the methodological design for the validation of a diagnostic scale was followed. The final sample consisted of 96 patients between 0 and 17 years with cancer and hospitalized at the Childrens Cancer Center of the HOMI Foundation in Bogota. The SCAN-SP was applied to each patient and a complete nutritional assessment (CNA) was performed as a gold standard to determine nutritional status. Results: 82.3 % (n = 79) of patients were classified at risk of malnutrition by SCAN-SP and 69.8 % (n = 67) of the total sample had undernutrition. The evaluation of the operative performance of SCAN-SP against CNA showed excellent results: sensitivity of 100 %, specificity of 59 %, PPV of 85 %, NPV of 100 %, positive likelihood ratio of 2.4, and negative likelihood ratio of 0.Conclusion: the SCAN-SP scale performs well as a nutritional screening tool in pediatric cancer patients, so its use in clinical practice is recommended. (AU)
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Humanos , Masculino , Femenino , Recién Nacido , Lactante , Preescolar , Niño , Adolescente , Desnutrición/epidemiología , Desnutrición/complicaciones , Neoplasias/epidemiología , Estado Nutricional , Prevalencia , Evaluación Nutricional , ColombiaRESUMEN
Introduction: Introduction: the prevalence of undernutrition in the pediatric cancer population can vary considerably, an element that significantly influences the clinical outcome of patients. However, this is a potentially modifiable prognostic factor, which requires timely identification of nutritional risk to guide the nutritional care process. Objectives: to evaluate the operational performance of the Spanish version of the nutritional screening tool for childhood cancer (SCAN) in the context of the validation process of this instrument in a high-complexity hospital in the city of Bogotá, Colombia. Methods: the methodological design for the validation of a diagnostic scale was followed. The final sample consisted of 96 patients between 0 and 17 years with cancer and hospitalized at the Children's Cancer Center of the HOMI Foundation in Bogota. The SCAN-SP was applied to each patient and a complete nutritional assessment (CNA) was performed as a gold standard to determine nutritional status. Results: 82.3 % (n = 79) of patients were classified "at risk of malnutrition" by SCAN-SP and 69.8 % (n = 67) of the total sample had undernutrition. The evaluation of the operative performance of SCAN-SP against CNA showed excellent results: sensitivity of 100 %, specificity of 59 %, PPV of 85 %, NPV of 100 %, positive likelihood ratio of 2.4, and negative likelihood ratio of 0. Conclusion: the SCAN-SP scale performs well as a nutritional screening tool in pediatric cancer patients, so its use in clinical practice is recommended.
Introducción: Introducción: la prevalencia de la desnutrición en la población con cáncer infantil puede variar notablemente, elemento que influye de manera significativa en el desenlace clínico de los pacientes. No obstante, este es un factor pronóstico potencialmente modificable y para ello se requiere una identificación del riesgo nutricional oportuna que oriente el proceso de cuidado nutricional. Objetivo: evaluar el rendimiento operativo de la versión en español de la escala de tamización nutricional para el cáncer infantil (SCAN-SP) en el marco del proceso de validación del instrumento en un hospital de alta complejidad en la ciudad de Bogotá, Colombia. Métodos: se siguió el diseño metodológico para la validación de una escala diagnóstica. La muestra final fue de 96 pacientes entre los 0 y 17 años con cáncer y hospitalizados en el Centro de Cáncer Infantil de la Fundación HOMI en Bogotá. A cada paciente se le aplicó la SCAN-SP y también se le realizó una valoración nutricional completa (VNC) tomada como patrón de referencia para conocer su estado nutricional. Resultados: el 82,3 % (n = 79) de los pacientes fueron clasificados como "con riesgo de desnutrición" por la SCAN-SP y el 69,8 % (n = 67) del total de la muestra estaban realmente desnutridos. La evaluación del rendimiento operativo de la SCAN-SP contra la VNC mostro excelentes resultados: sensibilidad del 100 %, especificidad del 59 %, VPP del 85 %, VPN del 100 %, RVP de 2,4 y una RVN de 0. Conclusión: la escala SCAN-SP tiene un buen comportamiento como herramienta de tamización nutricional en el paciente pediátrico con cáncer, por lo que se recomienda su uso en la práctica clínica.
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Desnutrición , Neoplasias , Humanos , Niño , Estado Nutricional , Evaluación Nutricional , Neoplasias/complicaciones , Detección Precoz del Cáncer , Desnutrición/diagnóstico , Desnutrición/epidemiologíaRESUMEN
OBJECTIVE: To validate and compare novel ultrasound scoring systems for dermoid cysts and thyroglossal duct cysts among pediatric patients. STUDY DESIGN: Retrospective study. SETTING: Tertiary care children's hospital. METHODS: An electronic medical record query of patients younger than 18 years old who underwent primary excision of a neck mass between January 2005 and February 2022, who underwent preoperative ultrasound, and had final histopathologic diagnosis of either thyroglossal duct cysts or dermoid cysts. This generated 260 results, of which 134 patients met the inclusion criteria. Charts were reviewed for demographic data, clinical impressions, and radiographic studies. Radiologists blindly reviewed ultrasound for SIST score (septae + irregular walls + solid components = thyroglossal), and 4S algorithm (Septations, depth relative to Strap muscles, Shape, Solid parts). Statistical analyses were performed to determine the accuracy of each diagnostic modality. RESULTS: Of 134 patients, 90 (67%) had a final histopathologic diagnosis of thyroglossal duct cysts, and 44 (33%) were dermoid cysts. The accuracy of clinical diagnosis was 52%, and preoperative ultrasound report accuracy was 31%. The 4S and SIST accuracies were each 84%. CONCLUSION: Both the 4S algorithm and SIST score provide increased accuracy of diagnosis relative to standard preoperative ultrasound assessment. Neither scoring modality was determined to be superior. Further research is warranted in improving the accuracy of preoperative assessments for pediatric congenital neck masses.
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Quiste Dermoide , Quiste Tirogloso , Niño , Humanos , Adolescente , Estudios Retrospectivos , Quiste Tirogloso/diagnóstico por imagen , Quiste Tirogloso/cirugía , Quiste Dermoide/diagnóstico por imagen , Quiste Dermoide/cirugía , UltrasonografíaRESUMEN
BACKGROUND: Adnexal torsion is a gynecologic emergency in children and adolescents but remains a challenging diagnosis, with no consistent clinical or radiologic diagnostic criteria. Our objective was to identify risk factors associated with adnexal torsion in premenarchal and menarchal patients with surgically confirmed torsion compared with those without torsion. METHODS: We conducted a retrospective chart review of all patients who underwent surgery between January 2016 and December 2019 for possible adnexal torsion. Data on demographics, clinical characteristics, radiologic variables, and operative findings were compared using descriptive statistics. Independent predictors of torsion were then examined in multivariate logistic regression models. RESULTS: Of the 291 patients who underwent surgery, 168 (57.7%) had torsion. Patients with torsion were younger than those without torsion (11.9 vs. 14.2 years, P < .01). Vomiting was significantly associated with torsion for all patients (P < .001). Large adnexal volume and absent arterial Doppler flow were associated with torsion for the total population and menarchal subgroup. A logistic regression model for the total population that controlled for age and menarchal status found that vomiting (adjusted odds ratio [aOR] 5.92, 95% confidence interval [CI] 2.87-12.22), highest adnexal volume category (aOR 4.92, 95% CI 2.25-10.75), and absent arterial Doppler flow (aOR 2.674, 95% CI 1.28-5.60) were associated with torsion. CONCLUSIONS: Vomiting, enlarged adnexal volume, and absent arterial Doppler flow were associated with adnexal torsion. However, no single risk factor accurately diagnosed torsion, and multiple factors should be interpreted together. LEVEL OF EVIDENCE: Study of Diagnostic Test, Level II.
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Enfermedades de los Anexos , Niño , Femenino , Humanos , Adolescente , Enfermedades de los Anexos/diagnóstico por imagen , Enfermedades de los Anexos/cirugía , Enfermedades de los Anexos/complicaciones , Torsión Ovárica , Estudios Retrospectivos , Anomalía Torsional/diagnóstico por imagen , Anomalía Torsional/cirugía , Anomalía Torsional/complicaciones , Vómitos/etiologíaRESUMEN
Elexacaftor-tezacaftor-ivacaftor (ELX/TEZ/IVA) is a triple combination drug therapy approved for individuals with cystic fibrosis (CF) who possess at least one copy of the F508del cystic fibrosis transmembrane conductance regulator (CFTR) variant. ELX/TEZ/IVA improves lung function and decreases the frequency of CF exacerbations in clinical studies, which has led to investigation of this therapy on rare CFTR variants. Rare mutations have limited research publications; therefore, reporting outcomes is critical to expanding knowledge and understanding of therapeutic efficacy. This case highlights a CF adolescent homozygous for the G85E CFTR variant who had resolution of chronic respiratory symptoms after initiating ELX/TEZ/IVA.
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Acquired aortopulmonary fistula (APF) in the setting of repaired congenital heart disease is extremely rare but potentially fatal, so timely diagnosis and treatment are critical. We present a case of an 8-year-old female with a history of complex Taussig-Bing anomaly, who underwent an arterial switch procedure with LeCompte maneuver and ventricular septal defect closure early in life. The patient developed neopulmonary stenosis and branch pulmonary artery (PA) stenosis, for which she underwent patch augmentation and balloon dilatation of the left PA. The patient presented with a fistula between the ascending aorta and the left branch PA, confirmed by echocardiography and cardiac catheterization. She underwent repair of the APF with a homograft patch reconstruction of the ascending aorta.
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Amid the coronavirus disease 2019 (COVID-19) pandemic, numerous publications of imaging findings in children have surfaced in a very short time. Publications discuss populations of overlapping age groups and describe different imaging patterns. We aim to present an overview of the quantity and type of literature available regarding COVID-19 chest imaging findings in children according to a 2020 publication timeline. We conducted a systematic review using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. We searched terminology related to COVID-19, chest, children and imaging modalities in PubMed and Embase. The included papers were published online in 2020 and described imaging findings specific to children and reported five or more cases. Two researchers reviewed each abstract to determine inclusion or exclusion, and a radiologist reconciled any disagreements. Then we reviewed full articles for the main analysis. Eligible study designs included original articles, case series (≥5 cases), systematic reviews and meta-analyses. We excluded non-English manuscripts, retracted articles, and those without available full text. The remaining articles were distributed to four pediatric radiologists (on the Society for Pediatric Radiology Thoracic Committee), who summarized chest imaging findings. Eighty-two articles were included in the final analysis - 28% in radiology journals and 71% in non-radiology journals; 71% contained original data and 29% were review-style papers. There was a disproportionate contribution of review-style papers in April (55%), considering the paucity of preceding publications with original data in March (5 papers). June had the highest number of publications (n=14), followed by April (n=11) and July (n=11). Most (52%) original papers were from China and most individual pediatric imaging descriptions were from China (57%), while the majority of review papers (83%) were international. Imaging descriptions were available for 2,199 children (1,678 CT descriptions and 780 chest radiography descriptions). Findings included a 25% normal CT scan reports vs. 40% normal chest radiography reports. Ground-glass opacification was the most common CT finding (33%) and was reported in only a minority of chest radiographs (9%). A significant amount of information on pediatric COVID-19 chest imaging has become rapidly available over a short period. Most publications in 2020 were original articles, but they were published more often in non-radiology journals. A disproportionate number of review articles were published early on and were based on little original pediatric imaging data. CT scan reports, which represent the standard, outnumbered radiographic reports and indicated that ground-glass opacification is the main imaging finding and that only a quarter of scans are normal in children with COVID-19.
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COVID-19 , Niño , China , Humanos , Pandemias , SARS-CoV-2 , Tomografía Computarizada por Rayos X/métodosRESUMEN
E-cigarette or vaping use-associated lung injury (EVALI) remains a major concern due to ongoing use of nicotine and/or cannabis-containing products and resulting acute lung injury. There are few published reports describing the clinical features, comorbidities, severity of disease, and outcomes of treatment in adolescents. This report describes the experience of a single tertiary care children's hospital in the Delaware Valley and reviews data from all patients diagnosed with EVALI in the emergency department and inpatient setting from July 2019 to June 2021 at the Nemours Children's Hospital in Wilmington, Delaware. Demographic, clinical, therapeutic, diagnostic features, and outcomes are presented. Abstinence and steroids improved outcomes in our population. Obtaining a vaping history, negative infectious testing, elevated inflammatory markers, and characteristic computed tomography findings were key to making the diagnosis of EVALI.
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The fetal circulation is characterized by the presence of three physiological vascular shunts - the ductus arteriosus, the foramen ovale and the ductus venosus. Acting in concert, these shunts preferentially stream blood flow in a pattern that maximizes efficiency of blood oxygenation by the maternofetal unit. Shortly following the transition to extrauterine life, a quick and predetermined succession of events results in closure of these embryological structures with consequent establishment of postnatal vascular flow patterns. While this transition is often seamless, the physiological shunts of the fetus occasionally fail to regress. Such failure to regress can occur in isolation or in association with other congenital malformations. This failed regression challenges the circulatory physiology of the neonate and might have implications for the optimum functioning of several organ systems. When symptomatic, these shunts are treated. Interventions, when undertaken, might be medical, endovascular or surgical. The radiologist's role continues to expand in the assessment of these shunts, in providing a roadmap for treatment and in prompt identification of treatment-related complications. This review is to familiarize radiologists with the embryology, pre- and post-treatment imaging appearances, and associated complications of persistent fetal vascular shunts.
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Conducto Arterioso Permeable , Conducto Arterial , Conducto Arterial/fisiología , Hemodinámica/fisiología , Humanos , Recién Nacido , RadiólogosRESUMEN
Pleuropulmonary blastomas are rare, potentially aggressive embryonal cancers of the lung parenchyma and pleural surfaces that account for 0.25%-0.5% of primary pulmonary malignancies in children. Pleuropulmonary blastomas are classified as cystic (type I), mixed cystic and solid (type II), and solid (type III). Pleuropulmonary blastoma occurs in the same age group (0-6 years) as other more common solid tumors such as neuroblastoma and Wilms tumor. Differential diagnosis includes metastasis from Wilms tumor and macrocystic congenital pulmonary airway malformation (CPAM). A key pathologic and genetic discriminator is the DICER1 germline mutation found in patients with pleuropulmonary blastoma. Imaging, histopathologic, and clinical data are important to use in conjunction in order to determine the diagnosis and risk stratification of pleuropulmonary blastomas. Survival varies from poor to good, depending on type. However, the spectrum of pleuropulmonary blastoma is insufficiently understood due to the variable presentation of this rare disease. We present a current review of the literature regarding pleuropulmonary blastomas in this article.
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Malformación Adenomatoide Quística Congénita del Pulmón , Neoplasias Pulmonares , Blastoma Pulmonar , Niño , Preescolar , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , ARN Helicasas DEAD-box , Diagnóstico Diferencial , Humanos , Lactante , Recién Nacido , Neoplasias Pulmonares/diagnóstico por imagen , Imagen Multimodal , Blastoma Pulmonar/diagnóstico por imagen , Ribonucleasa III/genéticaRESUMEN
An 11-year-old male with Marfan's syndrome and aortic root dilatation underwent an uneventful Bentall procedure to replace his aortic root and valve. Five months later, surveillance echocardiogram revealed a slowly enlarging pseudoaneurysm arising from the ascending aorta. This finding was subsequently confirmed by computed tomographic angiogram. The patient had successful open surgical repair and paraaortic hematoma evacuation.
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Penetrating injuries of the thorax and abdomen, such as gunshot and stabbing, are rare in children. We present the case of a pediatric patient with a history of remote gunshot injury presenting with a late aneurysm in the left ventricle. (Level of Difficulty: Intermediate.).
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Large-scale efforts to identify breast cancer (BC) risk alleles have historically taken place among women of European ancestry. Recently, there are new efforts to verify if these alleles increase risk in African American (AA) women as well. We investigated the effect of previously reported AA breast cancer and triple-negative breast cancer (TNBC) risk alleles in our African-enriched International Center for the Study of Breast Cancer Subtypes (ICSBCS) cohort. Using case-control, case-series and race-nested approaches, we report that the Duffy-null allele (rs2814778) is associated with TNBC risk (OR = 3.814, p = 0.001), specifically among AA individuals, after adjusting for self-indicated race and west African ancestry (OR = 3.368, p = 0.007). We have also validated the protective effect of the minor allele of the ANKLE1 missense variant rs2363956 among AA for TNBC (OR = 0.420, p = 0.005). Our results suggest that an ancestry-specific Duffy-null allele and differential prevalence of a polymorphic gene variant of ANKLE1 may play a role in TNBC breast cancer outcomes. These findings present opportunities for therapeutic potential and future studies to address race-specific differences in TNBC risk and disease outcome.
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Población Negra/genética , Sistema del Grupo Sanguíneo Duffy/genética , Endonucleasas/genética , Receptores de Superficie Celular/genética , Neoplasias de la Mama Triple Negativas/genética , Población Blanca/genética , Alelos , Biomarcadores de Tumor/genética , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Genotipo , Humanos , Internacionalidad , Persona de Mediana Edad , Factores de Riesgo , Neoplasias de la Mama Triple Negativas/epidemiología , Neoplasias de la Mama Triple Negativas/patologíaRESUMEN
BACKGROUND: Breast cancer mortality rates are 39% higher in the African-American (AA) women compared to White-American (WA) women despite the advances in overall breast cancer screening and treatments. Several studies have undertaken to identify the factors leading to this disparity in United States with possible effects of lower socioeconomic status and underlying aggressive biology. METHODS: A retrospective analysis was done using a prospectively maintained database of a metropolitan health system. Patients were selected based on diagnosis of early-stage breast cancer between 10/1998 and 02/2017, and included women over age of 18 with clinically node-negative disease. Patients were then stratified by phenotype confirmed by pathology and patient-identified race. RESULTS: A total of 2,298 women were identified in the cohort with 39% AA and 61% WA women. The overall mean age at the time of diagnosis for AA women was slightly younger at 60 years compared to 62 years for WA women (p = 0.003). Follow-up time was longer for the WA women at 95 months vs. 86 months in AA women. The overall 5-year survival was analyzed for the entire cohort, with the lowest survival occurring in patients with triple-negative breast cancer (TNBC). Phenotype distribution revealed a higher incidence of TNBC in AA women compared to WA women (AA 16% vs. WA 10%; p < 0.0001). AA women also had higher incidence of HER2 positive cancers (AA 16.8% vs. WA 15.3%; p < 0.0001). WA women had a significantly higher distribution of Non-TNBC/HER2-negative phenotype (AA 55% vs. WA 65%; p < 0.0001). Furthermore, a subgroup analysis was done for a sentinel lymph node (SLN) negative cohort that showed higher rates of grade 3 tumors in AA (AA 35% vs. WA 23%; p < 0.0001); and higher rates of grade 1 and grade 2 tumors in WA (30% vs. 21% and 44% vs. 40%). Despite higher grade tumors in AA women, five-year overall survival outcomes in SLN-negative cohort did not differ between AA and WA women when stratifying based on tumor subtype. CONCLUSION: Breast cancer survival disparities in AA and WA women with SLN-negative breast cancer are diminished when evaluated at early-stage cancers defined by SLN-negative tumors. Our evaluation suggests that when diagnosed early, phenotype does not contribute to racial survival outcomes. The lower survival rate in AA women with breast cancer may be attributed to later stage biology between the two races, or underlying socioeconomic disparities.