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INTRODUCTION: Imaging guidelines recommend an ultrasound (US)-first approach to evaluate appendicitis to minimize radiation. However, the association between US and computed tomography (CT) utilization remains unclear. We aimed to determine how increased US utilization correlated with the rate of CT evaluation of pediatric acute appendicitis. METHODS: We conducted a retrospective cohort study using the 2019 Nationwide Emergency Department Sample. Eligible patients were aged less than 18 y with a diagnosis of appendicitis. Imaging was determined by Current Procedural Terminology codes. Concurrent imaging was defined as US and CT use during the same encounter. We calculated the hospital rate of concurrent imaging and categorized hospitals into tertiles: low (< 20%), medium (20%-40%), and high (> 40%). We developed generalized ordinal logistic regression models with inverse probability weighting to assess patient characteristics and hospital rates of concurrent imaging associations. RESULTS: Our analysis included 485 hospitals and 23,976 patients. Thirty four percent were treated at hospitals in the lowest, 35% at the middle, and 31% at the highest tertile hospitals. We observed a negative correlation (-0.27, P < 0.001) between increasing US use and concurrent imaging use. The odds of presenting to a higher concurrent imaging rate hospital were significantly lower for Blacks (adjusted odds ratio [aOR] [95% confidence interval {CI}]: 0.6, [0.4-0.9]) and Hispanics (aOR [95% CI]: 0.7 [0.5-0.9]) in comparison to Whites. The odds of presenting to a higher concurrent imaging rate hospital were higher for patients in the second (aOR [95% CI]: 1.9 [1.2-3.2]) and lowest income quartile (aOR [95% CI]: 3.7 [1.1-13.1]) compared to the highest income quartile. CONCLUSIONS: Increased US use correlated with decreased CT utilization for diagnosing appendicitis. White children and those in lower socioeconomic neighborhoods are more likely to visit hospitals with high concurrent imaging use.
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INTRODUCTION: Immediate complications of appendicitis are common, but the prevalence of long-term complications is uncertain. METHODS: We studied all publicly-insured children in the US with uncomplicated or complicated appendicitis in 2018-2019 using administrative claims. The main outcome was late hospital care defined as hospitalization or abdominal procedure within 180 d of an appendicitis discharge, excluding interval appendectomies. Time to late hospital care was evaluated using Cox regression. We evaluated health-care expenditures arising from appendicitis episodes. RESULTS: Among 95,942 children with appendicitis, 5727 (6.0%) had late hospital care, with 5062 requiring rehospitalization and 2012 (2.1%) surgery. The median time to late hospital care was 10 d (interquartile range 4-33). Age under 5 y (compared with >14 y, hazard ratio [HR] 1.88, 95% confidence interval [CI] 1.70-2.08), complex chronic conditions (HR 2.35, 95% CI 2.13-2.59), and complicated appendicitis (HR 2.81, 95% CI 2.67, 2.96) were each associated with time to late hospital care. Expenditures over 180 d were a median $6553 and $19,589 respectively in those requiring no late hospital care versus those requiring it (P < 0.001). CONCLUSIONS: Late hospital care is uncommon in pediatric appendicitis but is costly. Prevention efforts should be targeted to the youngest, most complex children, and those with complicated appendicitis at presentation.
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Apendicectomía , Apendicitis , Humanos , Niño , Apendicectomía/métodos , Apendicitis/cirugía , Medicaid , Estudios Retrospectivos , Hospitales , Tiempo de InternaciónRESUMEN
INTRODUCTION: Emergency Department (ED) visits for gastrostomy tube complications in children represent a substantial health-care burden, and many ED visits are potentially preventable. The number and nature of ED visits to community hospitals for pediatric gastrostomy tube complications is unknown. METHODS: Using the 2019 Nationwide Emergency Department Sample, we performed a retrospective cross-sectional analysis of pediatric patients (<18 y) with a primary diagnosis of gastrostomy tube complication. Our primary outcome was a potentially preventable ED visit, defined as an encounter that did not result in any imaging, procedures, or an inpatient admission. Univariate and multivariable logistic regression analyses were used to determine the associations between patient factors and our primary outcome. RESULTS: We observed 32,036 ED visits at 535 hospitals and 15,165 (47.3%) were potentially preventable. The median (interquartile range) age was 2 (1, 6) years and 17,707 (55%) were male. Compared to White patients, patients with higher odds of potentially preventable visits were Black (adjusted odds ratio (aOR) [95% confidence interval {CI}]: 1.07 [1.05-1.11], P < 0.001) and Hispanic (aOR [95% CI]: 1.05 [1.02-1.08], P = 0.004). Patients with residential zip codes in the first (aOR [95% CI]: 1.08 [1.04, 1.12], P < 0.001), second (aOR [95% CI]: 1.07 [1.03, 1.11], P < 0.001), and third (aOR [95% CI]: 1.09 [1.05, 1.13], P < 0.001) median household income quartiles had higher odds of potentially preventable visits compared to the highest. CONCLUSIONS: In a nationally representative sample of EDs, 47.3% of visits for pediatric gastrostomy tubes were potentially preventable. Efforts to improve outpatient management are warranted to reduce health-care utilization for these patients.
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Servicio de Urgencia en Hospital , Gastrostomía , Niño , Humanos , Masculino , Estados Unidos , Femenino , Gastrostomía/efectos adversos , Estudios Retrospectivos , Estudios Transversales , HospitalizaciónRESUMEN
INTRODUCTION: An ultrasound (US)-first approach for evaluating appendicitis is recommended by the American College of Radiology. We sought to assess the access to and utilization of an US-first approach for children with acute appendicitis in United States Emergency Departments. METHODS: Utilizing the 2019 Nationwide Emergency Department Sample, we performed a retrospective cohort study of patients <18 y with a primary diagnosis of acute appendicitis based on International Classification of Disease 10th Edition Diagnosis codes. Our primary outcome was the presentation to a hospital that does not perform US for children with acute appendicitis. Our secondary outcome was the receipt of a US at US-capable hospital. We developed generalized linear models with inverse-probability weighting to determine the association between patient characteristics and outcomes. RESULTS: Of 49,703 total children, 24,102 (48%) received a US evaluation. The odds of presenting at a hospital with no US use were significantly higher for patients aged 11-17 compared to patients <6 y (adjusted odds ratio [aOR] [95% confidence interval (CI)]: 1.59, [1.19- 2.13], P = 0.002); lowest median household income quartile compared to highest (aOR [95% CI]: 2.50, [1.52-4.10], P < 0.001); rural locations compared to metropolitan (aOR [95% CI]: 8.36 [5.54-12.6], P < 0.001), and Hispanic compared to non-Hispanic White (aOR [95% CI]: 0.63 [0.45-0.90], P = 0.01). The odds of receiving a US at US-capable hospitals were significantly lower for patients >6 y, lowest median household income quartiles, and rural locations (P < 0.05). CONCLUSIONS: Rural, older, and poorer children are more likely to present to hospitals that do not utilize US in the diagnosis of acute appendicitis and are less likely to undergo US at US-capable hospitals.
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Apendicitis , Servicio de Urgencia en Hospital , Disparidades en Atención de Salud , Ultrasonografía , Niño , Humanos , Apendicitis/diagnóstico por imagen , Apendicitis/epidemiología , Apendicitis/etnología , Servicio de Urgencia en Hospital/estadística & datos numéricos , Hispánicos o Latinos/estadística & datos numéricos , Estudios Retrospectivos , Estados Unidos/epidemiología , Ultrasonografía/estadística & datos numéricos , Disparidades en Atención de Salud/etnología , Disparidades en Atención de Salud/estadística & datos numéricos , Adolescente , Blanco/estadística & datos numéricos , Factores de Edad , Población RuralRESUMEN
INTRODUCTION: Significant racial and ethnic disparities exist for children presenting with acute appendicitis; however, it is unknown if disparities persist after initial management and hospital discharge. MATERIALS AND METHODS: We performed a retrospective cohort study of children (aged < 18 y) who underwent treatment for acute appendicitis in 47 U.S. Children's Hospitals between 2017 and 2019. Primary outcomes were 30-d emergency department (ED) visits and 30-d inpatient readmission. Hierarchical multivariable logistic regression models were developed to determine the association of race and ethnicity on the primary outcomes. Inverse odds-weighted mediation analyses were used to estimate the degree to which complicated disease, insurance status, urbanicity, and residential socioeconomic status- mediated disparate outcomes. RESULTS: A total of 67,303 patients were included. Compared with Non-Hispanic White children, Non-Hispanic Black (NHB) (odds ratio [OR] 1.40, 95% confidence interval [CI] 1.23-1.59) and Hispanic/Latinx (HL) children (OR 1.55, 95% CI 1.44-1.67) had higher odds of ED visits. Only NHB children had higher odds of readmission (OR 1.43, 95% CI 1.30-1.57). On a multivariable analysis, NHB (adjusted OR 1.19, 95% CI 1.04-1.36) and HL (adjusted OR 1.19, 95% CI 1.09-1.31) children had higher odds of ED visits. Insurance, disease severity, socioeconomic status, and urbanicity mediated 61.6% (95% CI 29.7-100%) and 66.3% (95% CI 46.9-89.3%) of disparities for NHB and HL children, respectively. CONCLUSIONS: Children of racial and ethnic minorities are more likely to visit the ED after treatment for acute appendicitis, but HL patients did not have a corresponding increase in readmission. These differences were mediated mainly by insurance status and urban residence. A lack of appropriate postdischarge education and follow-up may drive disparities in healthcare utilization after pediatric appendicitis.
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Apendicitis , Etnicidad , Niño , Humanos , Apendicitis/cirugía , Análisis de Mediación , Disparidades en Atención de Salud , Estudios Retrospectivos , Alta del Paciente , Cuidados PosterioresRESUMEN
OBJECTIVE: We sought to determine the relationship between a patient's proximal familial social support, defined as the geographic proximity of family members, and healthcare utilization after complex cardiovascular and oncologic procedures. BACKGROUND: Social support mechanisms are increasingly identified as modifiable risk factors for healthcare utilization. METHODS: We performed a retrospective cohort study of 60,895 patients undergoing complex cardiovascular procedures or oncologic procedures. We defined healthcare utilization outcomes as 30-day all-cause readmission unplanned readmission, nonindex hospital readmission, index hospital length of stay, and home discharge disposition. For each patient, we aggregated the number of first-degree relatives (FDR) living within 30 miles of the patient's home address at the time of the surgical procedure into the following categories: 0 to 1, 2 to 3, 4 to 5, 6+ FDRs. We developed hierarchical multivariable regression models to determine the relationship between the number of FDR living within 30 miles of the patient and the healthcare utilization outcomes. RESULTS: Compared with patients with 0 to 1 FDRs, patients with 6+ FDRs living in close proximity had significantly lower rates of all-cause readmission (12.1% vs 13.5%, P <0.001), unplanned readmission (10.9% vs 12.0%, P =0.001), nonindex readmission (2.6% vs 3.2%, P =0.003); higher rates of home discharge (88.0% vs 85.3%, P <0.001); and shorter length of stay (7.3 vs 7.5 days, P =0.02). After multivariable adjustment, a larger number of FDRs living within 30 miles of the patient was significantly associated with a lower likelihood of all-cause readmission ( P <0.001 for trend), 30-day unplanned readmission ( P <0.001), nonindex readmission ( P <0.001); higher likelihood of home discharge ( P <0.001); and shorter index length of stay ( P <0.001). CONCLUSIONS: The geographic proximity of family members is significantly associated with decreased healthcare utilization after complex cardiovascular and oncologic surgical procedures.
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Alta del Paciente , Readmisión del Paciente , Familia , Humanos , Tiempo de Internación , Aceptación de la Atención de Salud , Complicaciones Posoperatorias , Estudios Retrospectivos , Factores de RiesgoRESUMEN
OBJECTIVE: To identify cumulative 5-year healthcare costs and healthcare days in children with anorectal malformation (ARM) and to compare the cumulative 5-year healthcare costs and healthcare days in children with ARM with 3 control cohorts: healthy, premature, and congenital heart disease (CHD). STUDY DESIGN: We performed a retrospective case-control study using the Truven MarketScan database of commercial claims encounters between 2008 and 2017. The ARM, CHD, and premature cohorts were identified using a targeted list of International Classification of Diseases 9th or 10th Revision diagnosis and Current Procedural Terminology codes. The healthy cohort included patients without ARM, preterm birth, or CHD. RESULTS: We identified 664 children with ARM, 3356 children with heart disease, 63 190 children who were born preterm, and 2947 healthy patients. At 5 years, the total healthcare costs of children with ARM ($273K, 95% CI $168K-$378K) were similar to the premature cohort ($246K, 95% CI $237K-$255K) and lower than the CHD cohort ($466K, 95% CI $401K-$530K, P < .001). Total healthcare days were similar in children with ARM (158 days, 95% CI 117-198) and prematurity (141 days, 95% CI 137-144) but lower than CHD (223 days, 95% CI 197-250, P = .02). In ARM, outpatient care (126 days, 95% CI 93-159) represented the largest contribution to total healthcare days. CONCLUSIONS: Children with ARM accumulate similar healthcare costs to children with prematurity and comparable healthcare days to children with CHD and prematurity in the first 5 years of life. Outpatient care represents the majority of healthcare days in children with ARM, identifying this as a target for quality improvement and demonstrating the long-term impact of this condition.
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Malformaciones Anorrectales/economía , Costos de la Atención en Salud/estadística & datos numéricos , Malformaciones Anorrectales/epidemiología , Estudios de Casos y Controles , Preescolar , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Estudios Retrospectivos , Estados Unidos/epidemiologíaRESUMEN
Current state-of-the-art fission product separations frequently involve multiple independent separation columns and sample manipulation processes; to couple these processes together, multiple evaporation and transposition steps are often required. The addition of these steps results in lengthy separation times, increased analysis costs, the potential for sample loss, and release of radioactive contamination. We report a new semiautomated method for the rapid separation of U, Zr, Mo, Ba, Sr, Te, and lanthanide fission products from irradiated uranium samples. Chemical yields for U, Zr, Ba, Sr, Te and the lanthanides from less than 3-day old uranium fission product samples are consistently greater than 90%, while those of Mo are greater than 70%. This method minimizes the use and addition of oxidation and reduction reagents that often cause issues with retention and separation. Uranium dissolution and fission product separations using this single-pass method are achievable in under 2 h, representing a significant improvement over traditional gravimetric uranium fission product separation procedures.
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BACKGROUND: The insurance status of pediatric trauma patients is associated with access to post-discharge resources, including inpatient rehabilitation. Our goal was to understand the impact of changes in insurance coverage on access to post-acute care resources for pediatric trauma patients. MATERIALS AND METHODS: We utilized the National Trauma Data Bank from 2012 to 2016 for all pediatric trauma patients with a highest body region abbreviated injury score >2. Our primary outcome was hospital discharge disposition location. We used multivariable regression to adjust for salient patient and trauma center characteristics. Additionally, we performed a sensitivity analysis including only high-volume hospitals to examine the relationship between the magnitude of facility level expansion in coverage and changes in patient disposition. RESULTS: We identified 195,649 pediatric trauma patients meeting inclusion criteria. From 2012 to 2016 the proportion of patients with Medicaid (35% versus 39%, P < 0.001) and private insurance (39% versus 45%, P < 0.001) increased. Increased discharges with home health (HH) (+0.6% adjusted risk difference 2012 to 2016, P < 0.001) and decreased discharges to inpatient rehabilitation and skilled nursing facilities (-0.6% adjusted risk difference 2012 to 2016, P = 0.01) were associated with changes in insurance coverage. After stratifying high volume facilities by magnitude of increase in Medicaid and private insurance, we found that, for all groups, discharge to inpatient rehabilitation and skilled nursing facilities decreased (P < 0.01). CONCLUSIONS: Expanded insurance coverage for children was paradoxically associated with decreased discharge to inpatient rehabilitation and skilled nursing facilities after severe traumatic injury. These findings suggest that additional barriers may drive limitations in access to pediatric post-discharge services.
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Cuidados Posteriores , Alta del Paciente , Niño , Estudios de Cohortes , Humanos , Cobertura del Seguro , Medicaid , Estudios Retrospectivos , Instituciones de Cuidados Especializados de Enfermería , Estados UnidosRESUMEN
BACKGROUND: Hirschsprung-associated enterocolitis (HAEC) is a serious potential complication after primary pull-through surgery for Hirschsprung's disease (HSCR). Administration of anal botulinum toxin (BT) injection may improve obstructive symptoms at the internal anal sphincter, leading to improved fecal passage. The timing of administration and effects on delay or prevention of HAEC are unknown. We hypothesized that BT administration increased the postoperative time to HAEC and aimed to investigate whether anal BT administration after primary pull-through surgery for HSCR is associated with increased time to inpatient HAEC admission development. METHODS: We performed a retrospective cohort study examining children with HSCR at US children's hospitals from 2008 to 2018 using the Pediatric Health Information System database with an associated primary pull-through operation performed before 60 d of age. The intervention assessed was the administration of BT concerning the timing of primary pull-through, and two groups were identified: PRO (received BT at or after primary pull-through, before HAEC) and NOT (never received BT, or received BT after HAEC). The primary outcome was time from pull-through to the first HAEC admission. The Cox proportional hazards model was developed to examine the BT administration effect on the primary outcome after controlling for patient-level covariates. RESULTS: We examined a total of 1439 children (67 in the PRO and 1372 in the NOT groups). A total of 308 (21.4%) developed at least one episode of HAEC, including 76 (5.3%) who had two or more episodes. Between 2008 and 2018, the frequency of BT administration has increased from three to 20 hospitals with a frequency of administration between 2.2% and 16.2%. Prophylactic BT (PRO) was not associated with increased time to HAEC event on adjusted analysis. CONCLUSIONS: Among children with HSCR undergoing primary pull-through surgery, prophylactic BT administration did not demonstrate increased time to first HAEC event. A better-powered study with prophylactic BT is required to determine the effect on HAEC occurrence and timing. LEVEL OF EVIDENCE: Level II (retrospective cohort study).
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Toxinas Botulínicas/uso terapéutico , Enterocolitis/prevención & control , Enfermedad de Hirschsprung/complicaciones , Neurotoxinas/uso terapéutico , Complicaciones Posoperatorias/prevención & control , Procedimientos Quirúrgicos del Sistema Digestivo/efectos adversos , Procedimientos Quirúrgicos del Sistema Digestivo/estadística & datos numéricos , Enterocolitis/etiología , Femenino , Enfermedad de Hirschsprung/cirugía , Humanos , Recién Nacido , Masculino , Complicaciones Posoperatorias/etiología , Estudios RetrospectivosRESUMEN
OBJECTIVES: We present the development and validation of a portable NLP approach for automated surveillance of SSIs. SUMMARY OF BACKGROUND DATA: The surveillance of SSIs is labor-intensive limiting the generalizability and scalability of surgical quality surveillance programs. METHODS: We abstracted patient clinical text notes after surgical procedures from 2 independent healthcare systems using different electronic healthcare records. An SSI detected as part of the American College of Surgeons' National Surgical Quality Improvement Program was used as the reference standard. We developed a rules-based NLP system (Easy Clinical Information Extractor [CIE]-SSI) for operative event-level detection of SSIs using an training cohort (4574 operative events) from 1 healthcare system and then conducted internal validation on a blind cohort from the same healthcare system (1850 operative events) and external validation on a blind cohort from the second healthcare system (15,360 operative events). EasyCIE-SSI performance was measured using sensitivity, specificity, and area under the receiver-operating-curve (AUC). RESULTS: The prevalence of SSI was 4% and 5% in the internal and external validation corpora. In internal validation, EasyCIE-SSI had a sensitivity, specificity, AUC of 94%, 88%, 0.912 for the detection of SSI, respectively. In external validation, EasyCIE-SSI had sensitivity, specificity, AUC of 79%, 92%, 0.852 for the detection of SSI, respectively. The sensitivity of EasyCIE-SSI decreased in clean, skin/subcutaneous, and outpatient procedures in the external validation compared to internal validation. CONCLUSION: Automated surveillance of SSIs can be achieved using NLP of clinical notes with high sensitivity and specificity.
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Aplicaciones Móviles , Procesamiento de Lenguaje Natural , Infección de la Herida Quirúrgica/diagnóstico , Adulto , Anciano , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Vigilancia de la Población/métodos , Mejoramiento de la Calidad , Procedimientos Quirúrgicos Operativos/normasRESUMEN
BACKGROUND: There is increasing need to avoid excess opioid prescribing after surgery. We prospectively assessed overprescription in our hospital system and used these data to design a quality improvement intervention to reduce overprescription. MATERIALS AND METHODS: Beginning in January 2017, an e-mail-based survey to assess the quantity of opioids used postoperatively as well as patient-reported pain control was sent to all surgical patients in a 23-hospital system. In January 2018, as a quality improvement initiative, guidelines were given to surgeons based on patient consumption data. Prescription and consumption were then tracked prospectively. Wilcoxon signed-rank, analysis of variance, and Cuzick trend tests were used to assess for overprescription and changes over time in opioid prescribing and consumption. RESULTS: We included 2239 patients in our cohort. The amount prescribed (median [IQR]: 30 [24-45] versus 18 [12-30], P < 0.001) and consumed (median [IQR]: 12 [7-20] versus 8 [3-15], P < 0.001) each decreased between the first and last quarter studied. Academic hospitals prescribed fewer opioids than nonacademic hospitals (median [IQR]: 24[15-40] versus median [IQR]: 30 [20-45], P < 0.001). There was no difference in the quantity of opioids consumed between patients treated at academic and nonacademic facilities (median [IQR]: 10[3-19] versus 10.5 [4-20], P = 0.08). Patients consumed a median of 42% of the opioids prescribed, and there was no significant trend in the percent consumed over time (P = 0.8). CONCLUSIONS: Patients used far fewer opioids than prescribed after common adult general surgery procedures. When surgeons were provided with patient consumption data, the number of opioids prescribed decreased significantly.
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Analgésicos Opioides/administración & dosificación , Implementación de Plan de Salud/normas , Dolor Postoperatorio/tratamiento farmacológico , Pautas de la Práctica en Medicina/organización & administración , Mejoramiento de la Calidad , Adulto , Anciano , Analgésicos Opioides/efectos adversos , Femenino , Humanos , Hidrocodona/administración & dosificación , Hidrocodona/efectos adversos , Masculino , Uso Excesivo de los Servicios de Salud/prevención & control , Uso Excesivo de los Servicios de Salud/estadística & datos numéricos , Persona de Mediana Edad , Epidemia de Opioides/prevención & control , Manejo del Dolor/métodos , Manejo del Dolor/normas , Manejo del Dolor/estadística & datos numéricos , Dimensión del Dolor/estadística & datos numéricos , Dolor Postoperatorio/diagnóstico , Dolor Postoperatorio/etiología , Medición de Resultados Informados por el Paciente , Cuidados Posoperatorios/normas , Cuidados Posoperatorios/estadística & datos numéricos , Guías de Práctica Clínica como Asunto , Pautas de la Práctica en Medicina/normas , Pautas de la Práctica en Medicina/estadística & datos numéricos , Estudios Prospectivos , Procedimientos Quirúrgicos Operativos/efectos adversos , ComprimidosRESUMEN
BACKGROUND: There are various suture techniques used during laparoscopic gastrostomy to secure the stomach to the anterior abdominal wall. However, it remains unclear whether temporary fixation or subcutaneous absorbable sutures predispose pediatric patients to fewer postoperative complications. Our goal was to determine if a particular suture technique resulted in an increased risk for the development of postoperative complications. MATERIALS AND METHODS: A retrospective cohort analysis was performed for patients less than 18 y of age who underwent laparoscopic gastrostomy at a tertiary Children's Hospital between 2012 and 2016. Children were grouped according to suture techniques for laparoscopic gastrostomy placement: temporary sutures or subcutaneous absorbable sutures. Postoperative outcomes at 30 d were defined as major complications (tube dislodgement, unplanned reoperation, readmission) and minor complications (stitch abscess, surgical site infection, emergency department visit). The chi squared test was used to determine if an association existed between the suture techniques and 30 d postoperative complications. RESULTS: We identified 682 pediatric patients who underwent laparoscopic gastrostomy. There were 301 (44%) patients with subcutaneous sutures placed and 381 (56%) with temporary sutures placed. The overall rate of major and minor complications was 8.3% and 22%, respectively. We observed a significant difference in the occurrence of major postoperative complications between the subcutaneous and temporary suture techniques (11% versus 6.3%, P = 0.029). There was no significant difference in the development of minor complications between subcutaneous and temporary suture techniques. CONCLUSIONS: Children who receive subcutaneous sutures during laparoscopic gastrostomy are at an increased risk for developing a major postoperative complication.
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Gastrostomía/efectos adversos , Complicaciones Posoperatorias/epidemiología , Técnicas de Sutura/efectos adversos , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios RetrospectivosRESUMEN
Secretory breast carcinoma (SBC) is a rare form of breast cancer found in both children and adults, and is the most common breast cancer in the pediatric population. Although SBC usually carries a favorable prognosis, there have been reported cases of axillary and distant metastases. Surgery is the primary mode of treatment, however, there exists variability within the literature surrounding the management of SBC. We report a case of an 8-year-old girl who presented with a firm, mobile, palpable breast mass. Ultrasonography was performed, followed by local excision, with surgical pathology concerning for SBC. The patient was definitively treated with mastectomy and sentinel lymph node (SLN) biopsy. She received no adjuvant therapies and 2 years later, remains disease free. Herein, we review the literature, curate data from 89 reported cases of pediatric and adult SBC, and address some of the controversy surrounding its treatment. From this review we conclude that patients with SBC should be reviewed at multidisciplinary treatment planning conference, undergo surgery with mastectomy or lumpectomy with SLN biopsy, and have long-term postoperative follow-up.
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Neoplasias de la Mama/patología , Neoplasias de la Mama/terapia , Carcinoma/patología , Carcinoma/terapia , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/cirugía , Carcinoma/diagnóstico , Carcinoma/cirugía , Niño , Femenino , Humanos , Ultrasonografía MamariaRESUMEN
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a common birth defect affecting 1 in 3000 births. It is characterised by herniation of abdominal viscera through an incompletely formed diaphragm. Although chromosomal anomalies and mutations in several genes have been implicated, the cause for most patients is unknown. METHODS: We used whole exome sequencing in two families with CDH and congenital heart disease, and identified mutations in GATA6 in both. RESULTS: In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot. In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect. The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus and intestinal malrotation. Deep sequencing of blood and saliva-derived DNA from the mother suggested somatic mosaicism as an explanation for her milder phenotype, with only approximately 15% mutant alleles. To determine the frequency of GATA6 mutations in CDH, we sequenced the gene in 378 patients with CDH. We identified one additional de novo mutation (c.1071delG, p.V358Cfs34*). CONCLUSIONS: Mutations in GATA6 have been previously associated with pancreatic agenesis and congenital heart disease. We conclude that, in addition to the heart and the pancreas, GATA6 is involved in development of two additional organs, the diaphragm and the pericardium. In addition, we have shown that de novo mutations can contribute to the development of CDH, a common birth defect.
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Factor de Transcripción GATA6/genética , Hernias Diafragmáticas Congénitas/genética , Mutación/genética , Secuencia de Aminoácidos , Análisis Mutacional de ADN , Exoma/genética , Femenino , Hernia Diafragmática/genética , Humanos , Masculino , Datos de Secuencia Molecular , Alineación de Secuencia , Análisis de Secuencia de ADNRESUMEN
BACKGROUND: Currently, surgical site infection surveillance relies on labor-intensive manual chart review. Recently suggested solutions involve machine learning to identify surgical site infections directly from the medical record. Deep learning is a form of machine learning that has historically performed better than traditional methods while being harder to interpret. We propose a deep learning model, a long short-term memory network, for the identification of surgical site infection from the medical record with an attention layer for explainability. METHODS: We retrieved structured data and clinical notes from the University of Utah Health System's electronic health care record for operative events randomly selected for manual chart review from January 2016 to June 2021. Surgical site infection occurring within 30 days of surgery was determined according to the National Surgical Quality Improvement Program definition. We trained the long short-term memory model along with traditional machine learning models for comparison. We calculated several performance metrics from a holdout test set and performed additional analyses to understand the performance of the long short-term memory, including an explainability analysis. RESULTS: Surgical site infection was present in 4.7% of the total 9,185 operative events. The area under the receiver operating characteristic curve and sensitivity of the long short-term memory was higher (area under the receiver operating characteristic curve: 0.954, sensitivity: 0.920) compared to the top traditional model (area under the receiver operating characteristic curve: 0.937, sensitivity: 0.736). The top 5 features of the long short-term memory included 2 procedure codes and 3 laboratory values. CONCLUSION: Surgical site infection surveillance is vital for the reduction of surgical site infection rates. Our explainable long short-term memory achieved a comparable area under the receiver operating characteristic curve and greater sensitivity when compared to traditional machine learning methods. With explainable deep learning, automated surgical site infection surveillance could replace burdensome manual chart review processes.
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Infección de la Herida Quirúrgica , Humanos , Infección de la Herida Quirúrgica/epidemiología , Infección de la Herida Quirúrgica/diagnóstico , Infección de la Herida Quirúrgica/etiología , Masculino , Femenino , Registros Electrónicos de Salud , Persona de Mediana Edad , Aprendizaje Profundo , Adulto , Anciano , Aprendizaje Automático , Memoria a Corto PlazoRESUMEN
Congenital diaphragmatic hernia (CDH) is characterized by incomplete formation of the diaphragm occurring as either an isolated defect or in association with other anomalies. Genetic factors including aneuploidies and copy number variants are important in the pathogenesis of many cases of CDH, but few single genes have been definitively implicated in human CDH. In this study, we used whole exome sequencing (WES) to identify a paternally inherited novel missense GATA4 variant (c.754C>T; p.R252W) in a familial case of CDH with incomplete penetrance. Phenotypic characterization of the family included magnetic resonance imaging of the chest and abdomen demonstrating asymptomatic defects in the diaphragm in the two "unaffected" missense variant carriers. Screening 96 additional CDH patients identified a de novo heterozygous GATA4 variant (c.848G>A; p.R283H) in a non-isolated CDH patient. In summary, GATA4 is implicated in both familial and sporadic CDH, and our data suggests that WES may be a powerful tool to discover rare variants for CDH.
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Variaciones en el Número de Copia de ADN/genética , Exoma/genética , Factor de Transcripción GATA4/genética , Hernias Diafragmáticas Congénitas , Mutación Missense , Polimorfismo de Nucleótido Simple , Variación Genética , Estudio de Asociación del Genoma Completo , Genotipo , Hernia Diafragmática/genética , Heterocigoto , Humanos , Recién Nacido , Masculino , Análisis de Secuencia de ADNRESUMEN
OBJECTIVE: To identify clinical factors associated with pulmonary hypertension (PH) and mortality in patients with congenital diaphragmatic hernia (CDH). STUDY DESIGN: A prospective cohort of neonates with a diaphragm defect identified at 1 of 7 collaborating medical centers was studied. Echocardiograms were performed at 1 month and 3 months of age and analyzed at a central core by 2 cardiologists independently. Degree of PH and survival were tested for association with clinical variables using Fischer exact test, χ(2), and regression analysis. RESULTS: Two hundred twenty patients met inclusion criteria. Worse PH measured at 1 month of life was associated with higher mortality. Other factors associated with mortality were need for extracorporeal membrane oxygenation, patients inborn at the treating center, and patients with a prenatal diagnosis of CDH. Interestingly, patients with right sided CDH did not have worse outcomes. CONCLUSIONS: Severity of PH is associated with mortality in CDH. Other factors associated with mortality were birth weight, gestational age at birth, inborn status, and need for extracorporeal membrane oxygenation.
Asunto(s)
Hernias Diafragmáticas Congénitas , Hipertensión Pulmonar/etiología , Hipertensión Pulmonar/mortalidad , Femenino , Hernia Diafragmática/complicaciones , Hernia Diafragmática/mortalidad , Humanos , Recién Nacido , Masculino , Estudios Prospectivos , Tasa de Supervivencia , Resultado del TratamientoRESUMEN
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a common birth defect with significant morbidity and mortality. Although the aetiology of CDH remains poorly understood, studies from animal models and patients with CDH suggest that genetic factors play an important role in the development of CDH. Chromosomal anomalies have been reported in CDH. METHODS: In this study, the authors investigated the frequency of chromosomal anomalies and copy number variants (CNVs) in 256 parent-child trios of CDH using clinical conventional cytogenetic and microarray analysis. The authors also selected a set of CDH related training genes to prioritise the genes in those segmental aneuploidies and identified the genes and gene sets that may contribute to the aetiology of CDH. RESULTS: The authors identified chromosomal anomalies in 16 patients (6.3%) of the series including three aneuploidies, two unbalanced translocation, and 11 patients with de novo CNVs ranging in size from 95 kb to 104.6 Mb. The authors prioritised the genes in the CNV segments and identified KCNA2, LMNA, CACNA1S, MYOG, HLX, LBR, AGT, GATA4, SOX7, HYLS1, FOXC1, FOXF2, PDGFA, FGF6, COL4A1, COL4A2, HOMER2, BNC1, BID, and TBX1 as genes that may be involved in diaphragm development. Gene enrichment analysis identified the most relevant gene ontology categories as those involved in tissue development (p=4.4×10(-11)) or regulation of multicellular organismal processes (p=2.8×10(-10)) and 'receptor binding' (p=8.7×10(-14)) and 'DNA binding transcription factor activity' (p=4.4×10(-10)). CONCLUSIONS: The present findings support the role of chromosomal anomalies in CDH and provide a set of candidate genes including FOXC1, FOXF2, PDGFA, FGF6, COL4A1, COL4A2, SOX7, BNC1, BID, and TBX1 for further analysis in CDH.
Asunto(s)
Variaciones en el Número de Copia de ADN , Predisposición Genética a la Enfermedad , Hernias Diafragmáticas Congénitas , Aberraciones Cromosómicas , Deleción Cromosómica , Cromosomas Humanos Par 15 , Cromosomas Humanos Par 17 , Cromosomas Humanos Par 8 , Femenino , Orden Génico , Redes Reguladoras de Genes , Estudio de Asociación del Genoma Completo , Hernia Diafragmática/diagnóstico , Hernia Diafragmática/genética , Humanos , Masculino , Estudios RetrospectivosRESUMEN
Recently, hospitals and healthcare providers have made efforts to reduce surgical site infections as they are a major cause of surgical complications, a prominent reason for hospital readmission, and associated with significantly increased healthcare costs. Traditional surveillance methods for SSI rely on manual chart review, which can be laborious and costly. To assist the chart review process, we developed a long short-term memory (LSTM) model using structured electronic health record data to identify SSI. The top LSTM model resulted in an average precision (AP) of 0.570 [95% CI 0.567, 0.573] and area under the receiver operating characteristic curve (AUROC) of 0.905 [95% CI 0.904, 0.906] compared to the top traditional machine learning model, a random forest, which achieved 0.552 [95% CI 0.549, 0.555] AP and 0.899 [95% CI 0.898, 0.900] AUROC. Our LSTM model represents a step toward automated surveillance of SSIs, a critical component of quality improvement mechanisms.