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Mesenchymal hamartoma of the liver (MHL) is a benign tumor affecting children that is characterized by a primitive myxoid stroma with cystically dilated bile ducts. Alterations involving chromosome 19q13 are a recurrent underlying cause of MHL; these alterations activate the chromosome 19 microRNA cluster (C19MC). Other cases remain unexplained. We describe two children with MHLs that harbored germline DICER1 pathogenic variants. Analysis of tumor tissue from one of the children revealed two DICER1 "hits." Mutations in DICER1 dysregulate microRNAs, mimicking the effect of the activation of C19MC. Our data suggest that MHL is a new phenotype of DICER1 syndrome. (Funded by the Canadian Institutes of Health Research and others.).
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Cromossomos Humanos Par 19 , RNA Helicases DEAD-box/genética , Mutação em Linhagem Germinativa , Hamartoma/genética , Hepatopatias/genética , MicroRNAs/metabolismo , Síndromes Neoplásicas Hereditárias/genética , Ribonuclease III/genética , Pré-Escolar , Feminino , Predisposição Genética para Doença , Hamartoma/diagnóstico por imagem , Hamartoma/patologia , Humanos , Fígado/diagnóstico por imagem , Fígado/patologia , Hepatopatias/diagnóstico por imagem , Hepatopatias/patologia , Masculino , Mesoderma , Linhagem , FenótipoRESUMO
Background Image-guided procedures for treatment of liver diseases can be painful and require heavy sedation of the patient. Local-regional nerve blocks improve pain control and reduce oversedation risks, but there are no documented liver-specific nerve blocks. Purpose To develop a safe and technically simple liver-specific nerve block. Materials and Methods Between March 2017 and October 2019, three cadavers were dissected to evaluate the hepatic hilar anatomy. The hepatic hilar nerves were targeted with transhepatic placement of a needle adjacent to the main portal vein, under US guidance, and evaluated with use of an injection of methylene blue. A hepatic nerve block, using similar technique and 0.25% bupivacaine, was offered to patients undergoing liver tumoral ablation. In a prospective pilot study, 12 patients who received the nerve block were compared with a control group regarding complications, safety, pain scores, and intraoperative opioid requirement. Student t tests were used to compare the groups' characteristics, and Mann-Whitney U tests were used for the measured outcomes. Results Cadaver results confirmed that the hepatic nerves coursing in the hepatic hilum can be targeted with US for injection of anesthetic agents, with adequate spread of injected methylene blue around the nerves in the hepatic hilar perivascular space. The 12 participants (mean age ± standard deviation, 66 years ± 13; eight men) who received a hepatic hilar block before liver thermal ablations demonstrated reduced pain compared with a control group of 12 participants (mean age, 63 years ± 15; eight men) who received only intravenous sedation. Participants who received the nerve block had a lower mean visual analog scale score for pain than the control group (3.9 ± 2.4 vs 7.0 ± 2.8, respectively; P = .01) and decreased need for intraprocedural fentanyl (mean dose, 152 µg ± 78.0 vs 235.4 µg ± 58.2, respectively; P = .01). No major complications occurred in the hepatic hilar nerve block group. Conclusion A dedicated hepatic hilar nerve block with 0.25% bupivacaine can be safely performed to provide anesthesia during liver tumoral ablation. © RSNA, 2021.
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Técnicas de Ablação/métodos , Neoplasias Hepáticas/cirurgia , Bloqueio Nervoso/métodos , Manejo da Dor/métodos , Ultrassonografia de Intervenção/métodos , Idoso , Cadáver , Feminino , Humanos , Fígado/anatomia & histologia , Fígado/inervação , Fígado/cirurgia , Neoplasias Hepáticas/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Estudos ProspectivosRESUMO
Transhepatic duodenal stent placement may be a solution when endoscopy fails or when duodenal and biliary stents are needed simultaneously. This approach is usually not considered as an option when the duodenal stent must be deployed across the ampulla of Vater. The authors present a series of 10 patients who underwent a novel transhepatic technique to place a duodenal stent across the ampulla of Vater by establishing a wire scaffold from the liver toward the jejunum and then curving back on itself retrogradely through the duodenal tumor and out the mouth. Technical success was 90% with no associated mortality.
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Ampola Hepatopancreática , Procedimentos Cirúrgicos do Sistema Biliar , Sistema Biliar , Neoplasias Duodenais , Ampola Hepatopancreática/diagnóstico por imagem , Ampola Hepatopancreática/cirurgia , Neoplasias Duodenais/diagnóstico por imagem , Neoplasias Duodenais/cirurgia , Humanos , StentsRESUMO
Establishment of long-term central venous access imposes the risk of procedural adverse events (air embolism, pneumothorax, accidental arterial cannulation of the great vessels, tricuspid valve damage and cardiac tamponade) as well as the risk of increased morbidity and mortality due to catheter related blood stream infections, vessel stenosis, deep vein thrombosis and the often high risk anaesthetic management of syndromic children. This narrative review aims to provide a historical and clinical background for the development and use of CVADs (central venous access devices), origin and management of the most common complications (catheter related thrombosis, infections and persistent withdrawal occlusion) and present the reader with an update on the "why, what, where, who and how" in paediatric long-term central venous access. Finally, we will present the reader with a clinical method for applying a retrograde inserted tunnelled and cuffed catheter using the left brachiocephalic vein access.
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Cateterismo Venoso Central , Pediatria , Trombose , Cateterismo Venoso Central/efeitos adversos , Criança , HumanosRESUMO
Purpose To evaluate the effectiveness of superior hypogastric nerve block (SHNB) in reducing narcotic use after uterine artery embolization (UAE). Materials and Methods This study was a prospective, randomized, double-blind, parallel clinical trial in patients referred to a tertiary care university teaching hospital for UAE. Forty-four participants were enrolled (mean age, 46 years; range, 32-56 years). No consenting patient was excluded. All participants were randomized 1:1 to undergo either a sham procedure or SHNB. There were 22 participants in each group. One participant was lost to follow-up regarding home survey results. Use of narcotics and antiemetics was recorded in-hospital. Pain scores were recorded at home for 10 days with use of a visual analog scale (range, 1-10). Statistical analysis was performed by using the t test and χ2 test, with P < .05 considered indicative of a statistically significant difference. The full study protocol can be found at www.clinicaltrials.gov (NCT02270255). Results Participant demographic characteristics, fibroid volume, symptoms, and perceived sensitivity to pain were similar in both groups. Immediately after embolization, the pain score was lower in the SHNB group than in the sham group (mean, 1.0 ± 2.1 vs 2.6 ± 2.0, respectively; P = .01). The total need for fentanyl in the postanesthesia care unit was lower in the SHNB group than in the sham group (mean, 56 µg ± 67 vs 124 µg ± 91, respectively; P = .009). The morphine-equivalent dose needed was lower in the SHNB group than in the sham group (mean, 5.1 mg ± 5.8 vs 11.0 mg ± 9.0, respectively; P = .014). Of the 22 participants in the SHNB group, five (23%) needed antiemetics versus 12 of 22 participants (55%) in the sham group (P = .03). No difference in hospital admissions was observed between the two groups, and no major complications occurred from the SHNB. Conclusion Use of superior hypogastric nerve block reduces the amount of pain-related narcotics and antiemetics after uterine artery embolization. © RSNA, 2018.
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Bloqueio Nervoso/métodos , Embolização da Artéria Uterina/efeitos adversos , Embolização da Artéria Uterina/métodos , Adulto , Método Duplo-Cego , Feminino , Humanos , Leiomioma/cirurgia , Pessoa de Meia-Idade , Dor Pós-Operatória/prevenção & controle , Estudos Prospectivos , Resultado do Tratamento , Neoplasias Uterinas/cirurgiaRESUMO
PURPOSE: To assess frequency of adverse events, efficacy, and clinical outcomes of percutaneous portal vein embolization (PVE) in patients with bilobar colorectal liver metastases undergoing staged hepatectomy with preservation of segment IV ± I only. MATERIALS AND METHODS: Retrospective analysis was performed of 40 consecutive patients who underwent right PVE after successful left lobectomy between 2005 and 2013. Rates of adverse events, future liver remnant (FLR) > 30% compared with baseline liver volume, clinical success (completion of staged hepatectomy with clearance of liver metastases), and overall survival were analyzed. RESULTS: PVE was performed using polyvinyl alcohol particles (n = 7; 17.5%), particles plus coils (n = 23; 57.5%), and N-butyl cyanoacrylate glue plus ethiodized oil (n = 10; 25%). Technical success was 100%. After PVE, 20% (n = 8) of patients exhibited portal venous thrombosis, ranging from isolated intrahepatic portal branch thrombosis to massive thrombosis of the main portal vein (n = 3) and responsible for periportal cavernoma and portal hypertension in 5 patients. Of patients, 23 (57.5%) had FLR ≥ 30%, and 21 (52.5%) had clinical success. Six patients had significant stenosis or occlusion of the left portal vein or biliary system after original left lobectomy, which was independently associated with FLR < 30% (R2 = 0.24). Clinical success was the only independent variable associated with survival (R2 = 0.25). CONCLUSIONS: PVE for staged hepatectomy with preservation of segment IV ± I only is technically feasible, leading to adequate hypertrophy and clinical success rates in these patients with poor oncologic prognosis. Portal venous thrombosis is greater after the procedure than in the setting of standard PVE.
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Neoplasias Colorretais/patologia , Embolização Terapêutica/métodos , Hepatectomia/métodos , Neoplasias Hepáticas/secundário , Neoplasias Hepáticas/terapia , Adulto , Idoso , Terapia Combinada , Feminino , Humanos , Neoplasias Hepáticas/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Segurança do Paciente , Veia Porta , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
BACKGROUND: Abdominal radiography is the reference standard in imaging neonates with necrotizing enterocolitis (NEC); however, ultrasound of the abdomen including bowel may be of value in this setting. OBJECTIVE: To correlate sonographic and radiographic findings with patient outcomes in NEC. MATERIALS AND METHODS: We reviewed sonographic and radiographic exams, as well as clinical, pathological and laboratory records. Ultrasound images were reviewed for free intraperitoneal gas, peritoneal fluid, pneumatosis intestinalis, portal gas, bowel vascularity, bowel wall thickness and echogenicity, peristalsis and the presence of dilated bowel with anechoic contents. Contemporaneously acquired radiographs were reviewed for intraperitoneal gas, pneumatosis intestinalis, portal gas, the sentinel loop sign and gas pattern. Patients were categorized into two groups based on clinical outcome. RESULTS: Forty-four neonates receiving 55 sonograms were included. Focal fluid collections, echogenic free fluid, increased bowel wall echogenicity and increased bowel wall thickness were statistically significant in predicting an unfavorable outcome. Other features approached significance in predicting poor outcomes: free peritoneal gas, pneumatosis intestinalis, aperistalsis, bowel wall thinning and absent bowel perfusion. Anechoic free peritoneal fluid predicted a good outcome. The sentinel loop sign on radiographs predicted an unfavorable outcome. CONCLUSIONS: Abdominal sonography and radiography in patients with NEC can help prognosticate the outcome.
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Enterocolite Necrosante/diagnóstico , Doenças do Recém-Nascido/diagnóstico , Tomografia Computadorizada por Raios X/estatística & dados numéricos , Ultrassonografia Doppler/métodos , Enterocolite Necrosante/epidemiologia , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Masculino , Pennsylvania/epidemiologia , Prevalência , Prognóstico , Reprodutibilidade dos Testes , Fatores de Risco , Sensibilidade e Especificidade , Estatística como AssuntoRESUMO
Rationale: Imatinib is used in the treatment of Philadelphia chromosome positive (Ph+) leukemias and has been reported to have a direct effect on bone physiology. Presentation: To report on a child with Ph+ acute lymphoblastic leukemia who presented with bilateral flank pain and gross hematuria. Diagnosis: She was diagnosed with obstructive kidney stones 101 days after commencing daily oral imatinib. Stone analysis revealed the presence of calcium phosphate. Interventions and outcome: The patient passed the stones spontaneously with medical therapy that included the use of thiazide, allopurinol, and potassium citrate, but she required temporary insertion of a double-J stent to relieve an obstruction. Novel findings: Imatinib inhibits receptor tyrosine kinases and stimulates the flux of calcium from the extracellular fluid into bone, resulting in hypocalcemia with a compensatory rise in parathyroid hormone that may result in phosphaturia and the formation of calcium phosphate stones. Given that kidney stones are rare events in children, we believe that monitoring for kidney stone formation needs to be performed in children receiving imatinib.
Justification: L'imatinib est utilisé dans le traitement des leucémies à chromosome Philadelphie (Ph+) et a été décrit comme ayant un effet direct sur la physiologie osseuse. Présentation du cas: Une enfant atteinte d'une leucémie lymphoblastique aiguë à Ph+ présentant des douleurs lombaires bilatérales et une hématurie macroscopique. Diagnostic: La patiente a reçu un diagnostic de calculs rénaux obstructifs 101 jours après avoir commencé la prise quotidienne d'imatinib par voie orale. L'analyse des calculs a révélé la présence de phosphate de calcium. Interventions et résultats: La patiente a éliminé spontanément ses calculs grâce à un traitement médical qui comprenait un diurétique thiazidique, de l'allopurinol et du citrate de potassium, mais on a dû lui insérer temporairement une endoprothèse double J pour traiter une obstruction. Nouveaux enseignements: L'imatinib inhibe les récepteurs de la tyrosine kinase et favorise le flux du calcium du liquide extracellulaire vers les os, ce qui entraîne une hypocalcémie avec élévation secondaire de l'hormone parathyroïdienne pouvant provoquer une phosphaturie et la formation de calculs de phosphate de calcium. Puisque la formation de calculs rénaux est rare chez les enfants, nous pensons qu'elle devrait faire l'objet d'une surveillance chez les enfants qui reçoivent de l'imatinib.
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Young children or those with intellectual disability with trauma to an extremity often undergo radiographs of the whole limb. The objective of the study was to assess the efficacy of digital infrared thermal images (DITI) in pediatric extremity trauma. We hypothesized fractures to be associated with local hyperthermia, detectable with DITI, which could direct focused radiographs. In this exploratory study, patients seen over a 2-month period in a pediatric emergency department for limb trauma were included if an extremity radiograph was taken on the same day. Patients had DITI of symptomatic and contralateral limbs. The warmest area of each image was compared to the site of pain and/or fracture on the radiograph. Fifty-one patients were enrolled. DITI matched 73% of pain sites. Fractures were seen in 11 patients. DITI matched 7 of 11 (64%) fracture sites. DITI performance in pinpointing the site of injury, although suboptimal, is encouraging for further evaluation.
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Traumatismos do Braço/diagnóstico , Fraturas Ósseas/diagnóstico , Traumatismos da Perna/diagnóstico , Termografia/métodos , Adolescente , Traumatismos do Braço/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Fraturas Ósseas/diagnóstico por imagem , Humanos , Gelo , Lactente , Recém-Nascido , Traumatismos da Perna/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Projetos Piloto , Estudos Prospectivos , Radiografia , Reprodutibilidade dos Testes , SoftwareRESUMO
DICER1 syndrome is caused by germline pathogenic mutations in the DICER1 gene. Multinodular goiter (MNG) is a common clinical feature of DICER1 syndrome in children and adults. The aim of this study was to determine the ultrasound (US) characteristics of MNG in patients with DICER1 syndrome. This retrospective study evaluated thyroid US in patients with DICER1 germline mutations (DICER1mut+) performed between 2011 and 2018 at a single center by the same pediatric endocrinologist, and the images were re-examined by an independent pediatric radiologist from another academic center. Patients < 18 years with DICER1mut+ and DICER1mut+ parents without previous thyroidectomy were included. Ultrasound phenotypes of MNG in the setting of DICER1 mutations were compared with known US features of thyroid malignancy. Thirteen DICER1mut+ patients were identified (10 children, 3 adults). Three children had a normal thyroid US; therefore, thyroid abnormalities were assessed in seven children and three adults. In both children and adults, multiple (≥ 3) mixed (cystic/solid) nodules predominated with single cystic, single cystic septated and single solid nodules, occasionally with a "spoke-like" presentation. All solid lesions were isoechogenic, and in only one with multiple solid nodules, intranodular blood flow on power/color Doppler was observed. Remarkably, macrocalcifications were present in all three adults. The spectrum of ultrasonographic findings of MNG in DICER1mut+ patients is characteristic and largely distinct from typical features of thyroid malignancy and therefore should inform physicians performing thyroid US of the possible presence of underlying DICER1 syndrome.
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Bócio Nodular , Síndromes Neoplásicas Hereditárias , Neoplasias da Glândula Tireoide , RNA Helicases DEAD-box/genética , Bócio Nodular/diagnóstico por imagem , Bócio Nodular/genética , Humanos , Síndromes Neoplásicas Hereditárias/genética , Estudos Retrospectivos , Ribonuclease III/genética , Neoplasias da Glândula Tireoide/patologia , TireoidectomiaRESUMO
Urinary fistulas are usually managed with diversion, and persistent fistulas may require nephrectomy. For refractory cases in adults, rare reports have described percutaneous glues as an alternative to nephrectomy. We present the case of a child with persistent urinary leak after partial nephrectomy for recurrent microabscesses. In order to spare the child nephrectomy, the fistula was treated percutaneously with the application of cyanoacrylate glue and a vascular occlusion plug. This is the first report of percutaneous glue treatment with an adjunct vascular occlusion device for a urinary leak, and the first report of percutaneous management of a pediatric urinary fistula.
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BACKGROUNDDICER1 is the only miRNA biogenesis component associated with an inherited tumor syndrome, featuring multinodular goiter (MNG) and rare pediatric-onset lesions. Other susceptibility genes for familial forms of MNG likely exist.METHODSWhole-exome sequencing of a kindred with early-onset MNG and schwannomatosis was followed by investigation of germline pathogenic variants that fully segregated with the disease. Genome-wide analyses were performed on 13 tissue samples from familial and nonfamilial DGCR8-E518K-positive tumors, including MNG, schwannomas, papillary thyroid cancers (PTCs), and Wilms tumors. miRNA profiles of 4 tissue types were compared, and sequencing of miRNA, pre-miRNA, and mRNA was performed in a subset of 9 schwannomas, 4 of which harbor DGCR8-E518K.RESULTSWe identified c.1552G>A;p.E518K in DGCR8, a microprocessor component located in 22q, in the kindred. The variant identified is a somatic hotspot in Wilms tumors and has been identified in 2 PTCs. Copy number loss of chromosome 22q, leading to loss of heterozygosity at the DGCR8 locus, was found in all 13 samples harboring c.1552G>A;p.E518K. miRNA profiling of PTCs, MNG, schwannomas, and Wilms tumors revealed a common profile among E518K hemizygous tumors. In vitro cleavage demonstrated improper processing of pre-miRNA by DGCR8-E518K. MicroRNA and RNA profiling show that this variant disrupts precursor microRNA production, impacting populations of canonical microRNAs and mirtrons.CONCLUSIONWe identified DGCR8 as the cause of an unreported autosomal dominant mendelian tumor susceptibility syndrome: familial multinodular goiter with schwannomatosis.FUNDINGCanadian Institutes of Health Research, Compute Canada, Alex's Lemonade Stand Foundation, the Mia Neri Foundation for Childhood Cancer, Cassa di Sovvenzioni e Risparmio fra il Personale della Banca d'Italia, and the KinderKrebsInitiative Buchholz/Holm-Seppensen.
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Predisposição Genética para Doença , Bócio Nodular/genética , Mutação de Sentido Incorreto , Proteínas de Neoplasias/genética , Neurilemoma/genética , Neurofibromatoses/genética , Proteínas de Ligação a RNA/genética , Neoplasias Cutâneas/genética , Substituição de Aminoácidos , Criança , Cromossomos Humanos Par 22/genética , Feminino , Dosagem de Genes , Estudo de Associação Genômica Ampla , Bócio Nodular/patologia , Células HEK293 , Humanos , Masculino , Neurilemoma/patologia , Neurofibromatoses/patologia , Neoplasias Cutâneas/patologia , Sequenciamento do ExomaAssuntos
Fraturas do Fêmur/diagnóstico por imagem , Neoplasias Femorais/diagnóstico por imagem , Osteossarcoma/diagnóstico por imagem , Criança , Diagnóstico Diferencial , Fraturas do Fêmur/patologia , Neoplasias Femorais/patologia , Humanos , Masculino , Estadiamento de Neoplasias , Osteossarcoma/patologia , RadiografiaRESUMO
PURPOSE: Gastrojejunostomy tubes (GJTs) enable enteral nutrition in infants/children with feeding intolerance. However, complications may be increased in small infants. We evaluated our single-institution GJT complication rate and systematically reviewed existing literature. METHODS: With REB approval, a retrospective single-institution analysis of GJT placements between 2009 and 2015 was performed. For the systematic review, MOOSE guidelines were followed. RESULTS: At our institution, 48 children underwent 154/159 successful insertions primarily for gastroesophageal reflux (n=27; 55%) and aspiration (n=11; 23%). Median age at first GJT insertion was 2.2years (0.2-18). Thirty-five (73%) had an index insertion when ≤10kg. GJTs caused 2 perforations and 1 death. The systematic review assessed 48 articles representing 2726 procedures. Overall perforation rate was estimated as 2.1% (n=36 studies, 23/1092, 95% CI: 1.0-3.2). Perforation rates in children <10kg versus ≥10kg were estimated as 3.1%/procedure (95% CI: 1.1%-5.0%) and 0.1%/procedure (95% CI: 0%-0.3%), respectively. The relative risk of perforation was 9.4 (95% CI: 2.8-31.3). Overall mortality was estimated as 0.9%/patient (n=39 studies; 95% CI: 0.2-1.6%). Most perforations (19/23; 83%) occurred ≤30days of attempted tube placement. CONCLUSION: Gastrojejunostomy tubes are associated with significant complications and frequently require revision/replacement. Insertion in patients <10kg is associated with increased perforation risk. Caution is warranted in this subgroup. LEVEL OF EVIDENCE: Level II.
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Derivação Gástrica , Perfuração Intestinal/etiologia , Complicações Pós-Operatórias , Adolescente , Peso Corporal , Criança , Pré-Escolar , Feminino , Seguimentos , Derivação Gástrica/instrumentação , Derivação Gástrica/mortalidade , Humanos , Incidência , Lactente , Perfuração Intestinal/diagnóstico , Perfuração Intestinal/epidemiologia , Masculino , Avaliação de Resultados em Cuidados de Saúde , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Fatores de RiscoRESUMO
OBJECTIVE: The purpose of this article is to promote insight into radiology costs through improvements in assessing patient-level cost data. Accurate patient costing is a prerequisite for establishing a proper payment system-one where the price paid for a service approximates the cost of delivering that service. In the absence of an accurate payment scheme, margins can vary significantly from one patient to the next. CONCLUSION: The resulting financial incentives skew the radiology marketplace away from the provision of efficient and appropriate care toward the selection of patients whose costs are low relative to reimbursements.
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Diagnóstico por Imagem/economia , Administração Financeira de Hospitais , Serviço Hospitalar de Radiologia/economia , Contabilidade , Controle de Custos , Custos e Análise de Custo , HumanosRESUMO
PURPOSE: To study professional cost and cost drivers in body computed tomography (CT), and to compare the professional cost associated with similar CT studies performed on patients with dissimilar diseases. METHODS: A time and motion study was undertaken to measure the allocation of physician time in body CT. The hourly cost of radiologists' clinical practice was calculated. The physician cost associated with individual CT patients was then calculated according to the amount of time radiologists devoted to each patient. Technical costs and hospital overhead were not included. RESULTS: The hourly cost of the clinical practice of attending radiologists, cross-sectional imaging fellows, and senior radiology residents was $293, $35, and $35 respectively. The average professional cost for CT examination of an abdominal pain patient with abdominal and pelvic imaging was $63. The average professional cost for CT examination of an oncology patient with abdominal and pelvic imaging was $90. The cost per relative value unit (RVU) was $25 for abdominal pain patients and $35 for oncology patients. CONCLUSION: Similar CT studies performed on patients with dissimilar diseases result in differing professional costs.