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1.
J Clin Invest ; 130(1): 507-522, 2020 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-31714901

RESUMO

X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are caused by deficiency of the magnesium transporter 1 (MAGT1) gene. We studied 23 patients with XMEN, 8 of whom were EBV naive. We observed lymphadenopathy (LAD), cytopenias, liver disease, cavum septum pellucidum (CSP), and increased CD4-CD8-B220-TCRαß+ T cells (αßDNTs), in addition to the previously described features of an inverted CD4/CD8 ratio, CD4+ T lymphocytopenia, increased B cells, dysgammaglobulinemia, and decreased expression of the natural killer group 2, member D (NKG2D) receptor. EBV-associated B cell malignancies occurred frequently in EBV-infected patients. We studied patients with XMEN and patients with autoimmune lymphoproliferative syndrome (ALPS) by deep immunophenotyping (32 immune markers) using time-of-flight mass cytometry (CyTOF). Our analysis revealed that the abundance of 2 populations of naive B cells (CD20+CD27-CD22+IgM+HLA-DR+CXCR5+CXCR4++CD10+CD38+ and CD20+CD27-CD22+IgM+HLA-DR+CXCR5+CXCR4+CD10-CD38-) could differentially classify XMEN, ALPS, and healthy individuals. We also performed glycoproteomics analysis on T lymphocytes and show that XMEN disease is a congenital disorder of glycosylation that affects a restricted subset of glycoproteins. Transfection of MAGT1 mRNA enabled us to rescue proteins with defective glycosylation. Together, these data provide new clinical and pathophysiological foundations with important ramifications for the diagnosis and treatment of XMEN disease.

2.
Acad Radiol ; 27(1): 96-105, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31818390

RESUMO

RATIONALE AND OBJECTIVES: Our primary aim was to improve radiology reports by increasing concordance of target lesion measurements with oncology records using radiology preprocessors (RP). Faster notification of incidental actionable findings to referring clinicians and clinical radiologist exam interpretation time savings with RPs quantifying tumor burden were also assessed. MATERIALS AND METHODS: In this prospective quality improvement initiative, RPs annotated lesions before radiologist interpretation of CT exams. Clinical radiologists then hyperlinked approved measurements into interactive reports during interpretations. RPs evaluated concordance with our tumor measurement radiologist, the determinant of tumor burden. Actionable finding detection and notification times were also deduced. Clinical radiologist interpretation times were calculated from established average CT chest, abdomen, and pelvis interpretation times. RESULTS: RPs assessed 1287 body CT exams with 812 follow-up CT chest, abdomen, and pelvis studies; 95 (11.7%) of which had 241 verified target lesions. There was improved concordance (67.8% vs. 22.5%) of target lesion measurements. RPs detected 93.1% incidental actionable findings with faster clinician notification by a median time of 1 hour (range: 15 minutes-16 hours). Radiologist exam interpretation times decreased by 37%. CONCLUSIONS: This workflow resulted in three-fold improved target lesion measurement concordance with oncology records, earlier detection and faster notification of incidental actionable findings to referring clinicians, and decreased exam interpretation times for clinical radiologists. These findings demonstrate potential roles for automation (such as AI) to improve report value, worklist prioritization, and patient care.

3.
Sci Transl Med ; 11(495)2019 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-31167928

RESUMO

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a monogenic disorder caused by AIRE mutations, presents with several autoimmune diseases. Among these, endocrine organ failure is widely recognized, but the prevalence, immunopathogenesis, and treatment of non-endocrine manifestations such as pneumonitis remain poorly characterized. We enrolled 50 patients with APECED in a prospective observational study and comprehensively examined their clinical and radiographic findings, performed pulmonary function tests, and analyzed immunological characteristics in blood, bronchoalveolar lavage fluid, and endobronchial and lung biopsies. Pneumonitis was found in >40% of our patients, presented early in life, was misdiagnosed despite chronic respiratory symptoms and accompanying radiographic and pulmonary function abnormalities, and caused hypoxemic respiratory failure and death. Autoantibodies against BPIFB1 and KCNRG and the homozygous c.967_979del13 AIRE mutation are associated with pneumonitis development. APECED pneumonitis features compartmentalized immunopathology, with accumulation of activated neutrophils in the airways and lymphocytic infiltration in intraepithelial, submucosal, peribronchiolar, and interstitial areas. Beyond APECED, we extend these observations to lung disease seen in other conditions with secondary AIRE deficiency (thymoma and RAG deficiency). Aire-deficient mice had similar compartmentalized cellular immune responses in the airways and lung tissue, which was ameliorated by deficiency of T and B lymphocytes. Accordingly, T and B lymphocyte-directed immunomodulation controlled symptoms and radiographic abnormalities and improved pulmonary function in patients with APECED pneumonitis. Collectively, our findings unveil lung autoimmunity as a common, early, and unrecognized manifestation of APECED and provide insights into the immunopathogenesis and treatment of pulmonary autoimmunity associated with impaired central immune tolerance.

4.
Radiology ; 290(1): 116-124, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30299237

RESUMO

Purpose To assess the potential ionizing radiation exposure from CT scans for both screening and surveillance of patients with von Hippel-Lindau (VHL) syndrome. Materials and Methods For this retrospective study, abdomen-pelvic (AP) and chest-abdomen-pelvic (CAP) CT scans were performed with either a three-phase (n = 1242) or a dual-energy virtual noncontrast protocol (VNC; n = 149) in 747 patients with VHL syndrome in the National Institutes of Health Clinical Center between 2009 and 2015 (mean age, 47.6 years ± 14.6 [standard deviation]; age range, 12-83 years; 320 women [42.8%]). CT scanning parameters for patients with pancreatic neuroendocrine tumors (PNETs; 124 patients and 381 scans) were compared between a tumor diameter-based surveillance protocol and a VHL genotype and tumor diameter-based algorithm (a tailored algorithm) developed by three VHL clinicians. Organ and lifetime radiation doses were estimated by two radiologists and five radiation scientists. Cumulative radiation doses were compared between the PNET surveillance algorithms by analyses of variance, and a two-tailed P value less than .05 indicated statistical significance. Results Median cumulative colon doses for annual CAP and AP CT scans from age 15 to 40 years ranged from 0.34 Gy (5th-95th percentiles, 0.18-0.75; dual-energy VNC CT) to 0.89 Gy (5th-95th percentiles, 0.42-1.0; three-phase CT). For the current PNET surveillance protocol, the cumulative effective radiation dose from age 40 to 65 years was 682 mSv (tumors < 1.2 cm) and 2125 mSv (tumors > 3 cm). The tailored algorithm could halve these doses for patients with initial tumor diameter less than 1.2 cm (P < .001). Conclusion CT screening of patients with von Hippel-Lindau syndrome can lead to substantial radiation exposures, even with dual-energy virtual noncontrast CT. A genome and tumor diameter-based algorithm for pancreatic neuroendocrine tumor surveillance may potentially reduce lifetime radiation exposure. © RSNA, 2018 Online supplemental material is available for this article.


Assuntos
Neoplasias Pancreáticas , Exposição à Radiação , Tomografia Computadorizada por Raios X , Doença de von Hippel-Lindau , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/etiologia , Exposição à Radiação/análise , Exposição à Radiação/estatística & dados numéricos , Estudos Retrospectivos , Adulto Jovem , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/diagnóstico por imagem
5.
J Digit Imaging ; 32(1): 175-182, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30187315

RESUMO

To develop an algorithm to automatically map CT scan locations of patients onto computational human phantoms to provide with patient-specific organ doses. We developed an algorithm that compares a two-dimensional skeletal mask generated from patient CTs with that of a whole body computational human phantom. The algorithm selected the scan locations showing the highest Dice Similarity Coefficient (DSC) calculated between the skeletal masks of a patient and a phantom. To test the performance of the algorithm, we randomly selected five sets of neck, chest, and abdominal CT images from the National Institutes of Health Clinical Center. We first automatically mapped scan locations of the CT images on a computational human phantom using our algorithm. We had several radiologists to manually map the same CT images on the phantom and compared the results with the automated mapping. Finally, organ doses for automated and manual mapping locations were calculated by an in-house CT dose calculator and compared to each other. The visual comparison showed excellent agreement between manual and automatic mapping locations for neck, chest, and abdomen-pelvis CTs. The difference in mapping locations averaged over the start and end in the five patients was less than 1 cm for all neck, chest, and AP scans: 0.9, 0.7, and 0.9 cm for neck, chest, and AP scans, respectively. Five cases out of ten in the neck scans show zero difference between the average manual and automatic mappings. Average of absolute dose differences between manual and automatic mappings was 2.3, 2.7, and 4.0% for neck, chest, and AP scans, respectively. The automatic mapping algorithm provided accurate scan locations and organ doses compared to manual mapping. The algorithm will be useful in cases requiring patient-specific organ dose for a large number of patients such as patient dose monitoring, clinical trials, and epidemiologic studies.

6.
Int J Comput Assist Radiol Surg ; 13(12): 1915-1925, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30284153

RESUMO

PURPOSE: Tuberculosis is a major global health threat claiming millions of lives each year. While the total number of tuberculosis cases has been decreasing over the last years, the rise of drug-resistant tuberculosis has reduced the chance of controlling the disease. The purpose is to implement a timely diagnosis of drug-resistant tuberculosis, which is essential to administering adequate treatment regimens and stopping the further transmission of drug-resistant tuberculosis. METHODS: A main tool for diagnosing tuberculosis is the conventional chest X-ray. We are investigating the possibility of discriminating automatically between drug-resistant and drug-sensitive tuberculosis in chest X-rays by means of image analysis and machine learning methods. RESULTS: For discriminating between drug-sensitive and drug-resistant tuberculosis, we achieve an area under the receiver operating characteristic curve (AUC) of up to 66%, using an artificial neural network in combination with a set of shape and texture features. We did not observe any significant difference in the results when including follow-up X-rays for each patient. CONCLUSION: Our results suggest that a chest X-ray contains information about the likelihood of a drug-resistant tuberculosis infection, which can be exploited computationally. We therefore suggest to repeat the experiments of our pilot study on a larger set of chest X-rays.


Assuntos
Aprendizado de Máquina , Radiografia Torácica/métodos , Tomografia Computadorizada por Raios X/métodos , Tuberculose Resistente a Múltiplos Medicamentos/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Probabilidade , Curva ROC
7.
Urology ; 118: e3-e4, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29729367

RESUMO

Anastomotic stricture is a well-known complication of the urinary diversion that accompanies radical cystectomy. Management options range from endoscopic procedures to open surgeries, with a subset of the latter employing bowel as the interposing segment. In this report, we describe a rare patient, who successfully underwent a "Reverse 7" procedure, bypassing strictures at both anastomotic junctions between ureters and neobladder.


Assuntos
Anastomose Cirúrgica , Cistectomia/efeitos adversos , Complicações Pós-Operatórias , Obstrução Ureteral , Ureteroscopia , Derivação Urinária/efeitos adversos , Idoso , Anastomose Cirúrgica/efeitos adversos , Anastomose Cirúrgica/métodos , Cistectomia/métodos , Feminino , Humanos , Masculino , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/etiologia , Tomografia Computadorizada por Raios X/métodos , Obstrução Ureteral/diagnóstico , Obstrução Ureteral/etiologia , Obstrução Ureteral/cirurgia , Ureteroscopia/efeitos adversos , Ureteroscopia/métodos , Bexiga Urinária/diagnóstico por imagem , Neoplasias da Bexiga Urinária/cirurgia , Derivação Urinária/métodos
8.
J Clin Invest ; 128(7): 3041-3052, 2018 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-29649002

RESUMO

BACKGROUND: Monogenic IFN-mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN response gene signature, inflammatory organ damage, and high mortality. We used the JAK inhibitor baricitinib, with IFN-blocking activity in vitro, to ameliorate disease. METHODS: Between October 2011 and February 2017, 10 patients with CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures), 4 patients with SAVI (stimulator of IFN genes-associated [STING-associated] vasculopathy with onset in infancy), and 4 patients with other interferonopathies were enrolled in an expanded access program. The patients underwent dose escalation, and the benefit was assessed by reductions in daily disease symptoms and corticosteroid requirement. Quality of life, organ inflammation, changes in IFN-induced biomarkers, and safety were longitudinally assessed. RESULTS: Eighteen patients were treated for a mean duration of 3.0 years (1.5-4.9 years). The median daily symptom score decreased from 1.3 (interquartile range [IQR], 0.93-1.78) to 0.25 (IQR, 0.1-0.63) (P < 0.0001). In 14 patients receiving corticosteroids at baseline, daily prednisone doses decreased from 0.44 mg/kg/day (IQR, 0.31-1.09) to 0.11 mg/kg/day (IQR, 0.02-0.24) (P < 0.01), and 5 of 10 patients with CANDLE achieved lasting clinical remission. The patients' quality of life and height and bone mineral density Z-scores significantly improved, and their IFN biomarkers decreased. Three patients, two of whom had genetically undefined conditions, discontinued treatment because of lack of efficacy, and one CANDLE patient discontinued treatment because of BK viremia and azotemia. The most common adverse events were upper respiratory infections, gastroenteritis, and BK viruria and viremia. CONCLUSION: Upon baricitinib treatment, clinical manifestations and inflammatory and IFN biomarkers improved in patients with the monogenic interferonopathies CANDLE, SAVI, and other interferonopathies. Monitoring safety and efficacy is important in benefit-risk assessment. TRIAL REGISTRATION: ClinicalTrials.gov NCT01724580 and NCT02974595. FUNDING: This research was supported by the Intramural Research Program of the NIH, NIAID, and NIAMS. Baricitinib was provided by Eli Lilly and Company, which is the sponsor of the expanded access program for this drug.


Assuntos
Azetidinas/uso terapêutico , Doenças Hereditárias Autoinflamatórias/tratamento farmacológico , Doenças Hereditárias Autoinflamatórias/imunologia , Inflamação/tratamento farmacológico , Inflamação/imunologia , Interferons/antagonistas & inibidores , Interferons/metabolismo , Janus Quinase 1/antagonistas & inibidores , Janus Quinase 2/antagonistas & inibidores , Inibidores de Janus Quinases/uso terapêutico , Sulfonamidas/uso terapêutico , Adolescente , Azetidinas/administração & dosagem , Azetidinas/efeitos adversos , Criança , Pré-Escolar , Estudos de Coortes , Ensaios de Uso Compassivo , Feminino , Doenças Hereditárias Autoinflamatórias/enzimologia , Humanos , Lactente , Inflamação/enzimologia , Inibidores de Janus Quinases/administração & dosagem , Inibidores de Janus Quinases/efeitos adversos , Masculino , Estudos Prospectivos , Sulfonamidas/administração & dosagem , Sulfonamidas/efeitos adversos , Resultado do Tratamento , Adulto Jovem
9.
AJR Am J Roentgenol ; 210(5): 1111-1117, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29547058

RESUMO

OBJECTIVE: Radiation exposure of the lens during neck CT may increase a patient's risk of developing cataracts. Radiologists at the National Institutes of Health worked with technicians to modify the neck CT scanning procedure to include a reduction in the scanning range, a reduction in the tube potential (kilovoltage), and a change in neck positioning using a head tilt. We objectively quantified the organ dose changes after this procedure modification using a computer simulation. MATERIALS AND METHODS: We retrospectively analyzed CT images of 40 patients (20 men and 20 women) scanned before and after the procedure change. Radiation dose to the lens delivered before and after the procedure change was calculated using an in-house CT dose calculator combined with computational human phantoms deformed to match head tilt angles. We also calculated the doses to other radiosensitive organs including the brain, pituitary gland, eye globes, and salivary glands before and after the procedure change. RESULTS: Our dose calculations showed that modifying the neck position, shortening the scanning range, and reducing the tube potential reduced the dose to the lens by 89% (p < 0.0001). The median brain, pituitary gland, globes, and salivary gland doses also decreased by 59%, 52%, 66%, and 29%, respectively. We found that overranging significantly affects the lens dose. CONCLUSION: Combining head tilt and scanning range reduction is an easy and effective method that significantly reduces radiation dose to the lens and other radiosensitive head and neck organs.


Assuntos
Catarata/prevenção & controle , Cristalino/efeitos da radiação , Pescoço/diagnóstico por imagem , Posicionamento do Paciente , Lesões por Radiação/prevenção & controle , Proteção Radiológica/métodos , Tomografia Computadorizada por Raios X , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doses de Radiação , Estudos Retrospectivos
10.
Radiographics ; 38(2): 462-482, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29528822

RESUMO

Multimedia-enhanced radiology report (MERR) development is defined and described from an informatics perspective, in which the MERR is seen as a superior information-communicating entity. Recent technical advances, such as the hyperlinking of report text directly to annotated images, improve MERR information content and accessibility compared with text-only reports. The MERR is analyzed by its components, which include hypertext, tables, graphs, embedded images, and their interconnections. The authors highlight the advantages of each component for improving the radiologist's communication of report content information and the user's ability to extract information. Requirements for MERR implementation (eg, integration of picture archiving and communication systems, radiology information systems, and electronic medical record systems) and the authors' initial experiences and challenges in MERR implementation at the National Institutes of Health are reviewed. The transition to MERRs has provided advantages over use of traditional text-only radiology reports because of the capacity to include hyperlinked report text that directs clinicians to image annotations, images, tables, and graphs. A framework is provided for thinking about the MERR from the user's perspective. Additional applications of emerging technologies (eg, artificial intelligence and machine learning) are described in the crafting of what the authors believe is the radiology report of the future. ©RSNA, 2018.


Assuntos
Multimídia , Sistemas de Informação em Radiologia , Inteligência Artificial , Humanos , Aprendizado de Máquina , Sistemas Computadorizados de Registros Médicos
11.
Acad Radiol ; 25(9): 1190-1200, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29428212

RESUMO

RATIONALE AND OBJECTIVES: This study aims to demonstrate the feasibility of processing computed tomography (CT) images with a custom window blending algorithm that combines soft-tissue, bone, and lung window settings into a single image; to compare the time for interpretation of chest CT for thoracic trauma with window blending and conventional window settings; and to assess diagnostic performance of both techniques. MATERIALS AND METHODS: Adobe Photoshop was scripted to process axial DICOM images from retrospective contrast-enhanced chest CTs performed for trauma with a window-blending algorithm. Two emergency radiologists independently interpreted the axial images from 103 chest CTs with both blended and conventional windows. Interpretation time and diagnostic performance were compared with Wilcoxon signed-rank test and McNemar test, respectively. Agreement with Nexus CT Chest injury severity was assessed with the weighted kappa statistic. RESULTS: A total of 13,295 images were processed without error. Interpretation was faster with window blending, resulting in a 20.3% time saving (P < .001), with no difference in diagnostic performance, within the power of the study to detect a difference in sensitivity of 5% as determined by post hoc power analysis. The sensitivity of the window-blended cases was 82.7%, compared to 81.6% for conventional windows. The specificity of the window-blended cases was 93.1%, compared to 90.5% for conventional windows. All injuries of major clinical significance (per Nexus CT Chest criteria) were correctly identified in all reading sessions, and all negative cases were correctly classified. All readers demonstrated near-perfect agreement with injury severity classification with both window settings. CONCLUSIONS: In this pilot study utilizing retrospective data, window blending allows faster preliminary interpretation of axial chest CT performed for trauma, with no significant difference in diagnostic performance compared to conventional window settings. Future studies would be required to assess the utility of window blending in clinical practice.


Assuntos
Algoritmos , Processamento de Imagem Assistida por Computador/métodos , Traumatismos Torácicos/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Estudos Retrospectivos , Sensibilidade e Especificidade , Software , Fatores de Tempo , Índices de Gravidade do Trauma , Adulto Jovem
12.
Tomography ; 3(2): 114-122, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28856247

RESUMO

We present a new image quality assessment method for determining whether reducing radiation dose impairs the image quality of computed tomography (CT) in qualitative and quantitative clinical analyses tasks. In this Institutional Review Board-exempt study, we conducted a review of 50 patients (male, 22; female, 28) who underwent reduced-dose CT scanning on the first follow-up after standard-dose multiphase CT scanning. Scans were for surveillance of von Hippel-Lindau disease (N = 26) and renal cell carcinoma (N = 10). We investigated density, morphometric, and structural differences between scans both at tissue (fat, bone) and organ levels (liver, heart, spleen, lung). To quantify structural variations caused by image quality differences, we propose using the following metrics: dice similarity coefficient, structural similarity index, Hausdorff distance, gradient magnitude similarity deviation, and weighted spectral distance. Pearson correlation coefficient and Welch 2-sample t test were used for quantitative comparisons of organ morphometry and to compare density distribution of tissue, respectively. For qualitative evaluation, 2-sided Kendall Tau test was used to assess agreement among readers. Both qualitative and quantitative evaluations were designed to examine significance of image differences for clinical tasks. Qualitative judgment served as an overall assessment, whereas detailed quantifications on structural consistency, intensity homogeneity, and texture similarity revealed more accurate and global difference estimations. Qualitative and quantitative results indicated no significant image quality degradation. Our study concludes that low(er)-dose CT scans can be routinely used because of no significant loss in quantitative image information compared with standard-dose CT scans.

13.
Radiology ; 285(3): 980-989, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28753389

RESUMO

Purpose To investigate whether photon-counting detector (PCD) technology can improve dose-reduced chest computed tomography (CT) image quality compared with that attained with conventional energy-integrating detector (EID) technology in vivo. Materials and Methods This was a HIPAA-compliant institutional review board-approved study, with informed consent from patients. Dose-reduced spiral unenhanced lung EID and PCD CT examinations were performed in 30 asymptomatic volunteers in accordance with manufacturer-recommended guidelines for CT lung cancer screening (120-kVp tube voltage, 20-mAs reference tube current-time product for both detectors). Quantitative analysis of images included measurement of mean attenuation, noise power spectrum (NPS), and lung nodule contrast-to-noise ratio (CNR). Images were qualitatively analyzed by three radiologists blinded to detector type. Reproducibility was assessed with the intraclass correlation coefficient (ICC). McNemar, paired t, and Wilcoxon signed-rank tests were used to compare image quality. Results Thirty study subjects were evaluated (mean age, 55.0 years ± 8.7 [standard deviation]; 14 men). Of these patients, 10 had a normal body mass index (BMI) (BMI range, 18.5-24.9 kg/m2; group 1), 10 were overweight (BMI range, 25.0-29.9 kg/m2; group 2), and 10 were obese (BMI ≥30.0 kg/m2, group 3). PCD diagnostic quality was higher than EID diagnostic quality (P = .016, P = .016, and P = .013 for readers 1, 2, and 3, respectively), with significantly better NPS and image quality scores for lung, soft tissue, and bone and with fewer beam-hardening artifacts (all P < .001). Image noise was significantly lower for PCD images in all BMI groups (P < .001 for groups 1 and 3, P < .01 for group 2), with higher CNR for lung nodule detection (12.1 ± 1.7 vs 10.0 ± 1.8, P < .001). Inter- and intrareader reproducibility were good (all ICC > 0.800). Conclusion Initial human experience with dose-reduced PCD chest CT demonstrated lower image noise compared with conventional EID CT, with better diagnostic quality and lung nodule CNR. © RSNA, 2017 Online supplemental material is available for this article.


Assuntos
Fotometria/instrumentação , Exposição à Radiação/prevenção & controle , Proteção Radiológica/instrumentação , Radiografia Torácica/instrumentação , Tomografia Computadorizada por Raios X/instrumentação , Idoso , Desenho de Equipamento , Análise de Falha de Equipamento , Estudos de Viabilidade , Humanos , Pessoa de Meia-Idade , Fotometria/métodos , Projetos Piloto , Doses de Radiação , Proteção Radiológica/métodos , Radiografia Torácica/métodos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X/métodos
14.
N Engl J Med ; 377(1): 52-61, 2017 07 06.
Artigo em Inglês | MEDLINE | ID: mdl-28657829

RESUMO

BACKGROUND: Studies of monogenic gastrointestinal diseases have revealed molecular pathways critical to gut homeostasis and enabled the development of targeted therapies. METHODS: We studied 11 patients with abdominal pain and diarrhea caused by early-onset protein-losing enteropathy with primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease; the disorder followed an autosomal recessive pattern of inheritance. Whole-exome sequencing was performed to identify gene variants. We evaluated the function of CD55 in patients' cells, which we confirmed by means of exogenous induction of expression of CD55. RESULTS: We identified homozygous loss-of-function mutations in the gene encoding CD55 (decay-accelerating factor), which lead to loss of protein expression. Patients' T lymphocytes showed increased complement activation causing surface deposition of complement and the generation of soluble C5a. Costimulatory function and cytokine modulation by CD55 were defective. Genetic reconstitution of CD55 or treatment with a complement-inhibitory therapeutic antibody reversed abnormal complement activation. CONCLUSIONS: CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (the CHAPLE syndrome) is caused by abnormal complement activation due to biallelic loss-of-function mutations in CD55. (Funded by the National Institute of Allergy and Infectious Diseases and others.).


Assuntos
Antígenos CD55/genética , Ativação do Complemento/genética , Proteínas do Sistema Complemento/metabolismo , Mutação , Enteropatias Perdedoras de Proteínas/genética , Trombose/genética , Antígenos CD55/sangue , Criança , Pré-Escolar , Ativação do Complemento/efeitos dos fármacos , Inativadores do Complemento/farmacologia , Feminino , Homozigoto , Humanos , Imunoglobulina A/sangue , Lactente , Intestino Delgado/patologia , Masculino , Linhagem , Enteropatias Perdedoras de Proteínas/complicações , Estatísticas não Paramétricas , Síndrome , Linfócitos T/metabolismo
15.
Urol Oncol ; 35(7): 473-491, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28506596

RESUMO

Medical imaging of the 3 most common genitourinary (GU) cancers-prostate adenocarcinoma, renal cell carcinoma, and urothelial carcinoma of the bladder-has evolved significantly during the last decades. The most commonly used imaging modalities for the diagnosis, staging, and follow-up of GU cancers are computed tomography, magnetic resonance imaging (MRI), and positron emission tomography (PET). Multiplanar multidetector computed tomography and multiparametric MRI with diffusion-weighted imaging are the main imaging modalities for renal cell carcinoma and urothelial carcinoma, and although multiparametric MRI is rapidly becoming the main imaging tool in the evaluation of prostate adenocarcinoma, biopsy is still required for diagnosis. Functional and molecular imaging using 18-fluorodeoxyglucose-PET and sodium fluoride-PET are essential for the diagnosis, and especially follow-up, of metastatic GU tumors. This review provides an overview of the latest advances in the imaging of these 3 major GU cancers.


Assuntos
Imagem por Ressonância Magnética/métodos , Tomografia por Emissão de Pósitrons/métodos , Neoplasias Urogenitais/diagnóstico por imagem , Neoplasias Urogenitais/diagnóstico , Feminino , Humanos , Masculino , Neoplasias Urogenitais/terapia
16.
Radiat Prot Dosimetry ; 175(4): 482-492, 2017 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-28096313

RESUMO

Our current study was undertaken in order to compare CT exposures during various dose-reduction initiatives at the National Institutes of Health Clinical center, to show trends in exposure reduction over a 5-y period, and to provide benchmarks that other facilities may use. Using an in-house extraction tool (Radiation Exposure Extraction Engine), we derived CT exposure data from Digital Imaging and Communications in Medicine (DICOM) headers over 5 y. We present parameters used and compare most common exams between 2010 and 2015. During a period of exposure-reduction initiatives, data of 79 396 exams from nine CT scanners on 87 scan protocols were analyzed. Adult chest exposures were reduced 53% and chest, abdomen and pelvis exams were reduced 43%  (p < 0.001). Only extremity exams did not show significantly reduced exposure. Collecting data over several years allowed us to confirm and compare several initiatives. We demonstrated significant exposure reductions during continued reduction efforts on common exams. Our results may provide benchmarks for similar centers.


Assuntos
Doses de Radiação , Exposição à Radiação , Tomógrafos Computadorizados , Abdome/diagnóstico por imagem , Humanos , Tomografia Computadorizada por Raios X
17.
J Digit Imaging ; 30(3): 358-368, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28097498

RESUMO

A methodology is described using Adobe Photoshop and Adobe Extendscript to process DICOM images with a Relative Attenuation-Dependent Image Overlay (RADIO) algorithm to visualize the full dynamic range of CT in one view, without requiring a change in window and level settings. The potential clinical uses for such an algorithm are described in a pictorial overview, including applications in emergency radiology, oncologic imaging, and nuclear medicine and molecular imaging.


Assuntos
Algoritmos , Sistemas de Informação em Radiologia , Tomografia Computadorizada por Raios X/métodos , Humanos , Radiologia
18.
J Digit Imaging ; 30(3): 275-286, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28074302

RESUMO

Oncologists evaluate therapeutic response in cancer trials based on tumor quantification following selected "target" lesions over time. At our cancer center, a majority of oncologists use Response Evaluation Criteria in Solid Tumors (RECIST) v1.1 quantifying tumor progression based on lesion measurements on imaging. Currently, our oncologists handwrite tumor measurements, followed by multiple manual data transfers; however, our Picture Archiving Communication System (PACS) (Carestream Health, Rochester, NY) has the ability to export tumor measurements, making it possible to manage tumor metadata digitally. We developed an interface, "Exportable Notation and Bookmark List Engine" (ENABLE), which produces prepopulated RECIST v1.1 worksheets and compiles cohort data and data models from PACS measurement data, thus eliminating handwriting and manual data transcription. We compared RECIST v1.1 data from eight patients (16 computed tomography exams) enrolled in an IRB-approved therapeutic trial with ENABLE outputs: 10 data fields with a total of 194 data points. All data in ENABLE's output matched with the existing data. Seven staff were taught how to use the interface with a 5-min explanatory instructional video. All were able to use ENABLE successfully without additional guidance. We additionally assessed 42 metastatic genitourinary cancer patients with available RECIST data within PACS to produce a best response waterfall plot. ENABLE manages tumor measurements and associated metadata exported from PACS, producing forms and data models compatible with cancer databases, obviating handwriting and the manual re-entry of data. Automation should reduce transcription errors and improve efficiency and the auditing process.


Assuntos
Bases de Dados Factuais , Neoplasias/patologia , Sistemas de Informação em Radiologia , Carga Tumoral , Institutos de Câncer , Progressão da Doença , Humanos , Registros Médicos , Neoplasias/diagnóstico por imagem , Critérios de Avaliação de Resposta em Tumores Sólidos , Tomografia Computadorizada por Raios X , Neoplasias Urogenitais/diagnóstico por imagem , Neoplasias Urogenitais/patologia
19.
AJR Am J Roentgenol ; 208(2): W31-W37, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28112557

RESUMO

OBJECTIVE: Radiology reports often lack the measurements of target lesions that are needed for oncology clinical trials. When available, the measurements in the radiology reports often do not match those in the records used to calculate therapeutic response. This study assessed the clinical value of hyperlinked tumor measurements in multimedia-enhanced radiology reports in the PACS and the inclusion of a radiologist assistant in the process of assessing tumor burden. MATERIALS AND METHODS: We assessed 489 target lesions in 232 CT examinations of 71 patients with metastatic genitourinary cancer enrolled in two therapeutic trials. We analyzed target lesion selection and measurement concordance between oncology records (used to calculate therapeutic response) and two types of radiology reports in the PACS: multimedia-enhanced radiology reports and text-only reports. For statistical tests, we used the Wilcoxon signed rank, Wilcoxon rank sum test, and Fisher method to combine p values from the paired and unpaired results. The Fisher exact test was used to compare overall measurement concordance. RESULTS: Concordance on target lesion selection was greater for multimedia-enhanced radiology reports (78%) than the text-only reports (52%) (p = 0.0050). There was also improved overall measurement concordance with the multimedia-enhanced radiology reports (68%) compared with the text-only reports (38%) (p < 0.0001). CONCLUSION: Compared with text-only reports, hyperlinked multimedia-enhanced radiology reports improved concordance of target lesion selection and measurement with the measurements used to calculate therapeutic response.


Assuntos
Ensaios Clínicos como Assunto/métodos , Registro Médico Coordenado/métodos , Sistemas de Informação em Radiologia/estatística & dados numéricos , Critérios de Avaliação de Resposta em Tumores Sólidos , Neoplasias Urogenitais/diagnóstico , Neoplasias Urogenitais/terapia , Mineração de Dados/métodos , Documentação/estatística & dados numéricos , Humanos , Processamento de Linguagem Natural , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X/estatística & dados numéricos
20.
Phys Med Biol ; 62(1): 202-213, 2017 01 07.
Artigo em Inglês | MEDLINE | ID: mdl-27991453

RESUMO

To evaluate the feasibility of using a whole-body photon-counting detector (PCD) CT scanner for low-dose lung cancer screening compared to a conventional energy integrating detector (EID) system. Radiation dose-matched EID and PCD scans of the COPDGene 2 phantom were acquired at different radiation dose levels (CTDIvol: 3.0, 1.5, and 0.75 mGy) and different tube voltages (120, 100, and 80 kVp). EID and PCD images were compared for quantitative Hounsfield unit (HU) accuracy, noise levels, and contrast-to-noise ratios (CNR) for detection of ground-glass nodules (GGN) and emphysema. The PCD HU accuracy was better than EID for water at all scan parameters. PCD HU stability for lung, GGN and emphysema regions were superior to EID and PCD attenuation values were more reproducible than EID for all scan parameters (all P < 0.01), while HUs for lung, GGN and emphysema ROIs changed significantly for EID with decreasing dose (all P < 0.001). PCD showed lower noise levels at the lowest dose setting at 120, 100 and 80 kVp (15.2 ± 0.3 HU versus 15.8 ± 0.2 HU, P = 0.03; 16.1 ± 0.3 HU versus 18.0 ± 0.4 HU, P = 0.003; and 16.1 ± 0.3 HU versus 17.9 ± 0.3 HU, P = 0.001, respectively), resulting in superior CNR for evaluation of GGNs and emphysema at 100 and 80 kVp. PCD provided better HU stability for lung, ground-glass, and emphysema-equivalent foams at lower radiation dose settings with better reproducibility than EID. Additionally, PCD showed up to 10% less noise, and 11% higher CNR at 0.75 mGy for both 100 and 80 kVp. PCD technology may help reduce radiation exposure in lung cancer screening while maintaining diagnostic quality.


Assuntos
Neoplasias Pulmonares/diagnóstico por imagem , Fótons , Doses de Radiação , Tomografia Computadorizada por Raios X/métodos , Contagem Corporal Total , Detecção Precoce de Câncer , Estudos de Viabilidade , Humanos , Pulmão/diagnóstico por imagem , Imagens de Fantasmas , Enfisema Pulmonar/diagnóstico por imagem , Exposição à Radiação , Reprodutibilidade dos Testes , Razão Sinal-Ruído , Tomografia Computadorizada por Raios X/instrumentação
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