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Immune response is known to play an important role in local tumor control especially in renal cell carcinoma (RCC), which is considered highly immunogenic. For localized tumors, operative resection or local ablative procedures such as cryoablation are common therapeutical options. For thermal ablative procedures such as cryoablation, additional immunological anti-tumor effects have been described.The purpose of this prospective study was to determine changes in peripheral blood circulating lymphocytes and various of their subsets in RCC patients treated with cryoablation or surgery in a longitudinal approach using extensive flow cytometry. Additionally, lymphocytes of RCC patients were compared to a healthy control group.We included 25 patients with RCC. Eight underwent cryoablation and 17 underwent surgery. Univariate and multivariable analysis revealed significantly lower values of B cells, CD4 and CD8 T cells, and various of their subsets in the treatment groups versus the healthy control group. Comparing the two different therapeutical approaches, a significant decline of various lymphocyte subsets with a consecutive normalization after three months was seen for the surgery group, whereas cryoablation led to increased values of CD69 + CD4 + and CD69 + CD8 + cell counts as well as memory CD8 + cells after three months.Treatment-naïve RCC patients showed lower peripheral blood lymphocyte counts compared to healthy controls. The post-treatment course revealed different developments of lymphocytes in the surgery versus cryoablation group, and only cryoablation seems to induce a sustained immunological response after three months.
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Carcinoma de Células Renales , Criocirugía , Neoplasias Renales , Subgrupos Linfocitarios , Humanos , Carcinoma de Células Renales/cirugía , Carcinoma de Células Renales/inmunología , Carcinoma de Células Renales/sangre , Carcinoma de Células Renales/patología , Criocirugía/métodos , Masculino , Femenino , Persona de Mediana Edad , Neoplasias Renales/cirugía , Neoplasias Renales/inmunología , Neoplasias Renales/sangre , Neoplasias Renales/patología , Anciano , Subgrupos Linfocitarios/inmunología , Estudios Prospectivos , Recuento de Linfocitos , Estadificación de Neoplasias , Adulto , Linfocitos T CD8-positivos/inmunología , Citometría de Flujo , Resultado del TratamientoRESUMEN
In this work, we propose a processing pipeline for the extraction and identification of meaningful radiomics biomarkers in skeletal muscle tissue as displayed using Dixon-weighted MRI. Diverse and robust radiomics features can be identified that may be of aid in the accurate quantification e.g. varying degrees of sarcopenia in respective muscles of large cohorts. As such, the approach comprises the texture feature extraction from raw data based on well established approaches, such as a nnU-Net neural network and the Pyradiomics toolbox, a subsequent selection according to adequate conditions for the muscle tissue of the general population, and an importance-based ranking to further narrow the amount of meaningful features with respect to auxiliary targets. The performance was investigated with respect to the included auxiliary targets, namely age, body mass index (BMI), and fat fraction (FF). Four skeletal muscles with different fiber architecture were included: the mm. glutaei, m. psoas, as well as the extensors and adductors of the thigh. The selection allowed for a reduction from 1015 available texture features to 65 for age, 53 for BMI, and 36 for FF from the available fat/water contrast images considering all muscles jointly. Further, the dependence of the importance rankings calculated for the auxiliary targets on validation sets (in a cross-validation scheme) was investigated by boxplots. In addition, significant differences between subgroups of respective auxiliary targets as well as between both sexes were shown to be present within the ten lowest ranked features by means of Kruskal-Wallis H-tests and Mann-Whitney U-tests. The prediction performance for the selected features and the ranking scheme were verified on validation sets by a random forest based multi-class classification, with strong area under the curve (AUC) values of the receiver operator characteristic (ROC) of 73.03 ± 0.70 % and 73.63 ± 0.70 % for the water and fat images in age, 80.68 ± 0.30 % and 88.03 ± 0.89 % in BMI, as well as 98.36 ± 0.03 % and 98.52 ± 0.09 % in FF.
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Imagen por Resonancia Magnética , Sarcopenia , Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano de 80 o más Años , Imagen por Resonancia Magnética/métodos , Músculo Esquelético/diagnóstico por imagen , Sarcopenia/diagnóstico por imagen , Biomarcadores , Estudios RetrospectivosRESUMEN
PURPOSE: Peritonsillar abscess can be diagnosed by B-mode ultrasound and cross-sectional imaging. The latter (with MRI being the modality of first choice in children) is associated with higher effort and risk for pediatric patients due to the administration of X-rays and/or the need of sedation. The purpose of this study is to evaluate whether the introduction of CEUS into the diagnostic algorithm for suspected pediatric peritonsillar abscess is suitable and advantageous. MATERIALS AND METHODS: Single-institution retrospective review of data of pediatric patients who were presented to the department of pediatric radiology for sonographic evaluation under the suspicion of peritonsillar abscess. Diagnostic performance of CEUS was evaluated by using surgical exploration or clinical follow-up as the reference standard. RESULTS: 284 children included in the study underwent B-mode ultrasound. Mean age of all patients was 6,23 years. Peritonsillar abscess was the diagnosis in 42 patients. Diagnosis of peritonsillar abscess was made by B-mode ultrasound alone in 13 of 42 patients (31 %). In 17 of 42 patients (40 %), diagnosis was made by a combination of B-mode ultrasound and CEUS. Sensitivity rose from 37 % to 86 % in cases where B-mode ultrasound remained unclear and CEUS was used. CONCLUSION: Contrast-enhanced ultrasound (CEUS) is suitable and efficient for the diagnosis of peritonsillar abscess in pediatric patients. It increases the sensitivity for the diagnosis of peritonsillar abscess and thereby reduces the need of additional cross-sectional imaging for the pediatric patients.
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Absceso Peritonsilar , Niño , Humanos , Absceso Peritonsilar/diagnóstico por imagen , Absceso Peritonsilar/cirugía , Ultrasonografía/métodos , Estudios RetrospectivosRESUMEN
The rate of SARS-CoV-2 infections in vaccinees has become a relevant serious issue. This study aimed to determine the causes of death, histological organ alteration, and viral spread in relation to demographic, clinical-pathological, viral variants, and vaccine types for deceased individuals with proven SARS-CoV-2 infection after vaccination who died between January and November 2021. Twenty-nine consecutively collected cases were analyzed and compared to 141 nonvaccinated control cases. Autopsies were performed on 16 partially and 13 fully vaccinated individuals. Most patients were elderly and suffered from several relevant comorbidities. Real-time RT-PCR (RT-qPCR) identified a significantly increased rate of generalized viral dissemination within organ systems in vaccinated cases versus nonvaccinated cases (45% vs. 16%, respectively; P = 0.008) mainly with Ct-values of higher than 25 in non-respiratory samples. However, vaccinated cases also showed high viral loads, reaching Ct-values below 10, especially in the upper airways and lungs. This was accompanied by high rates of pulmonal bacterial or mycotic superinfections and the occurrence of immunocompromising factors, such as malignancies, immunosuppressive drug intake, or decreased immunoglobulin levels. All these findings were particularly accentuated in partially vaccinated patients compared to fully vaccinated individuals. The virus dissemination observed in our case study may indicate that patients with an impaired immune system have a decreased ability to eliminate the virus. However, the potential role of antibody-dependent enhancement must also be ruled out in future studies. Fatal cases of COVID-19 in vaccinees were rare and often associated with severe comorbidities or other immunosuppressive conditions.
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COVID-19 , Anciano , Autopsia , Humanos , Reacción en Cadena en Tiempo Real de la Polimerasa , SARS-CoV-2 , Carga ViralRESUMEN
OBJECTIVES: The aim of this study was to determine if a long versus short interval between preoperative uterine artery embolization (PUAE) and subsequent myomectomy impact perioperative blood loss and the complication rate in cases of enlarged multi-fibroid uterus. DESIGN: In cases of an enlarged multi-fibroid uterus, operative myomectomy can lead to heavy blood loss and consequently increases the risk for transfusion and hysterectomy. PUAE can possibly contribute to a reduction of these risks. Our study was designed to determine if a long versus short interval between PUAE and subsequent surgery impacts perioperative blood loss and complication rate. PARTICIPANTS AND METHODS: PUAE was performed 24 h before the planned myoma enucleation in 21 patients between January 2011 and March 2016 (group 1) or 19 days before the operation in 23 patients from March 2016 to May 2018 (group 2). A comparison was made to a historical sample of 57 patients with large myomas (>10 cm) without PUAE (group 3). Perioperative blood loss, need for postoperative blood transfusion, and postoperative complications were recorded. Subjective improvement of myoma-related symptoms was assessed for each group by a questionnaire. RESULTS: PUAE was carried out successfully without complications in all patients. Conversion to hysterectomy was not needed in any of the PUAE patients but was necessary in one of the control patients. In the three groups' comparison, there was a significant lower risk for high blood loss (≥500 mL) in group 1 and a lower but not significant lower risk in group 2 compared to group 3 without an embolization preoperatively. Also, a significant lower risk for postoperative blood transfusion for group 1 (OR 0.02; 0.001-0.328; p = 0.01) and 2 (OR 0.02; 0.001-0.277; p = 0.01) compared to group 3 was observed. The postoperative complication risk was lower in group 2 (model 1: OR 0.12; 0.016-0.848; p = 0.03; model 2 OR 0.07; 0.009-0.588; p = 0.01) compared to group 3. In the context of the postoperative questionnaire, 10 of 11 patients in group 1, 12 of 12 patients in group 2, and 31 of 36 patients from the control group reported an improvement of their complaints. CONCLUSION: PUAE is beneficial for uterus-preserving removal of myomas from patients with a substantially enlarged uterus. There is a significant reduction of high blood loss (≥500 mL), need for postoperative blood transfusion, and postoperative complications in patients with extensive fibroid disease after PUAE compared to no intervention before myoma enucleation.
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Leiomioma , Mioma , Embolización de la Arteria Uterina , Miomectomía Uterina , Neoplasias Uterinas , Pérdida de Sangre Quirúrgica , Femenino , Humanos , Leiomioma/cirugía , Complicaciones Posoperatorias/epidemiología , Estudios Retrospectivos , Anomalías Urogenitales , Miomectomía Uterina/efectos adversos , Neoplasias Uterinas/cirugía , Útero/anomalías , Útero/irrigación sanguínea , Útero/cirugíaRESUMEN
There is currently no consensus regarding preferred clinical outcome measures following image-guided tumor ablation or clear definitions of oncologic end points. This consensus document proposes standardized definitions for a broad range of oncologic outcome measures with recommendations on how to uniformly document, analyze, and report outcomes. The initiative was coordinated by the Society of Interventional Oncology in collaboration with the Definition for the Assessment of Time-to-Event End Points in Cancer Trials, or DATECAN, group. According to predefined criteria, based on experience with clinical trials, an international panel of 62 experts convened. Recommendations were developed using the validated three-step modified Delphi consensus method. Consensus was reached on when to assess outcomes per patient, per session, or per tumor; on starting and ending time and survival time definitions; and on time-to-event end points. Although no consensus was reached on the preferred classification system to report complications, quality of life, and health economics issues, the panel did agree on using the most recent version of a validated patient-reported outcome questionnaire. This article provides a framework of key opinion leader recommendations with the intent to facilitate a clear interpretation of results and standardize worldwide communication. Widespread adoption will improve reproducibility, allow for accurate comparisons, and avoid misinterpretations in the field of interventional oncology research. Published under a CC BY 4.0 license. Online supplemental material is available for this article. See also the editorial by Liddell in this issue.
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Técnicas de Ablación/métodos , Neoplasias/cirugía , Consenso , Humanos , Reproducibilidad de los Resultados , Sociedades MédicasRESUMEN
BACKGROUND: Refined therapy has helped to improve survival rates in rhabdoid tumors (RT). Prognosis for patients with chemoresistant, recurrent, or progressive RT remains dismal. Although decitabine, an epigenetically active agent, has mainly been evaluated in the management of hematologic malignancies in adults, safety in children has also been demonstrated repeatedly. MATERIALS AND METHODS: A retrospective series of patients who received decitabine upon relapse or progression following therapy according to the EU-RHAB regimen is presented. Due to the retrospective nature of analyses, response was defined as measurable regression of at least one lesion on imaging. 850k methylation profiling was done whenever tumor tissue was available. RESULTS: A total of 22 patients with RT of any anatomical localization were included. Most patients (19/22) presented with metastases. All received low-dose decitabine with or preceding conventional chemotherapy. Patients received a median of two (1-6) courses of decitabine; 27.3% (6/22) demonstrated a radiological response. Molecular analyses revealed increased methylation levels in tumors from responders. No excessive toxicity was observed. Clinical benefits for responders included eligibility for early phase trials or local therapy. Responders showed prolonged time to progression and overall survival. Due to small sample size, statistical correction for survivorship bias demonstrated no significant effect on survival for responders. CONCLUSIONS: Patients with RT demonstrate promising signs of antitumor activity after multiagent relapse therapy including decitabine. Analyses of methylation data suggest a specific effect on an epigenetic level. We propose to consider decitabine and other epigenetic drugs as candidates for further clinical investigations in RT.
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Tumor Rabdoide , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Azacitidina/uso terapéutico , Niño , Decitabina/uso terapéutico , Humanos , Recurrencia Local de Neoplasia/tratamiento farmacológico , Recurrencia Local de Neoplasia/genética , Pronóstico , Estudios Retrospectivos , Tumor Rabdoide/tratamiento farmacológico , Tumor Rabdoide/genéticaRESUMEN
We retrospectively investigated concordance of EndoPredict (EPclin) with urokinase plasminogen activator and plasminogen activator inhibitor-1 (uPA/PAI-1) in 72 breast cancer patients and compared the results with grading, molecular subtype and chemotherapy recommendation. Compared to uPA/PAI-1, EPclin proved to be more conservative concerning correlation with clinicopathological parameters and was significantly associated with the recommendation of adjuvant chemotherapy.
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Biomarcadores de Tumor/análisis , Neoplasias de la Mama/metabolismo , Neoplasias de la Mama/patología , Regulación Neoplásica de la Expresión Génica , Inhibidor 1 de Activador Plasminogénico/análisis , Activador de Plasminógeno de Tipo Uroquinasa/análisis , Biomarcadores de Tumor/genética , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/genética , Quimioterapia Adyuvante , Femenino , Humanos , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
PURPOSE: To detail the rationale, design, and future perspective of implementing whole-body magnetic resonance (MR) imaging in the German National Cohort, a large multicentric population-based study. MATERIALS AND METHODS: All institutional review boards approved the study, and informed consent is obtained before study enrollment. Participants are enrolled from a random sample of the general population at five dedicated imaging sites among 18 recruitment centers. MR imaging facilities are equipped with identical 3.0-T imager technology and use uniform MR protocols. Imager-specific hardware and software settings remained constant over the study period. On-site and centralized measures of image quality enable monitoring of completeness of the acquisitions and quality of each of the MR sequences. Certified radiologists read all MR imaging studies for presence of incidental findings according to predefined algorithms. RESULTS: Over a 4-year period, six participants per day are examined at each center, totaling a final imaging cohort of approximately 30 000 participants. The MR imaging protocol is identical for each site and comprises a set of 12 native series to cover neurologic, cardiovascular, thoracoabdominal, and musculoskeletal imaging phenotypes totaling approximately 1 hour of imaging time. A dedicated analysis platform as part of a central imaging core incorporates a thin client-based integrative and modular data handling platform to enable multicentric off-site image reading for incidental findings. Scientific analysis will be pursued on a per-project hypothesis-driven basis. CONCLUSION: Population-based whole-body MR imaging as part of the German National Cohort will serve to compile a comprehensive image repository, will provide insight into physiologic variants and subclinical disease burden, and has the potential to enable identification of novel imaging biomarkers of risk.
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Imagen por Resonancia Magnética , Imagen de Cuerpo Entero , Alemania , Humanos , Hallazgos Incidentales , Imagen por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/normas , Proyectos de Investigación , Imagen de Cuerpo Entero/métodos , Imagen de Cuerpo Entero/normasRESUMEN
The introduction of photon-counting detector CT (PCD-CT) marks a remarkable leap in innovation in CT imaging. The new detector technology allows X-rays to be converted directly into an electrical signal without an intermediate step via a scintillation layer and allows the energy of individual photons to be measured. Initial data show high spatial resolution, complete elimination of electronic noise, and steady availability of spectral image data sets. In particular, the new technology shows promise with respect to the imaging of osseous structures. Recently, PCD-CT was implemented in the clinical routine. The aim of this review was to summarize recent studies and to show our first experiences with photon-counting detector technology in the field of musculoskeletal radiology.We performed a literature search using Medline and included a total of 90 articles and reviews that covered recent experimental and clinical experiences with the new technology.In this review, we focus on (1) spatial resolution and delineation of fine anatomic structures, (2) reduction of radiation dose, (3) electronic noise, (4) techniques for metal artifact reduction, and (5) possibilities of spectral imaging. This article provides insight into our first experiences with photon-counting detector technology and shows results and images from experimental and clinical studies. · This review summarizes recent experimental and clinical studies in the field of photon-counting detector CT and musculoskeletal radiology.. · The potential of photon-counting detector technology in the field of musculoskeletal radiology includes improved spatial resolution, reduction in radiation dose, metal artifact reduction, and spectral imaging.. · PCD-CT enables imaging at lower radiation doses while maintaining or even enhancing spatial resolution, crucial for reducing patient exposure, especially in repeated or prolonged imaging scenarios.. · It offers promising results in reducing metal artifacts commonly encountered in orthopedic or dental implants, enhancing the interpretability of adjacent structures in postoperative and follow-up imaging.. · With its ability to routinely acquire spectral data, PCD-CT scans allow for material classification, such as detecting urate crystals in suspected gout or visualizing bone marrow edema, potentially reducing reliance on MRI in certain cases.. Bette S, Risch F, Becker J et al. Photon-counting detector CT - first experiences in the field of musculoskeletal radiology. Fortschr Röntgenstr 2024; DOI 10.1055/a-2312-6914.
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Objective.Proton therapy administers a highly conformal dose to the tumour region, necessitating accurate prediction of the patient's 3D map of proton relative stopping power (RSP) compared to water. This remains challenging due to inaccuracies inherent in single-energy computed tomography (SECT) calibration. Recent advancements in spectral x-ray CT (xCT) and proton CT (pCT) have shown improved RSP estimation compared to traditional SECT methods. This study aims to provide the first comparison of the imaging and RSP estimation performance among dual-energy CT (DECT) and photon-counting CT (PCCT) scanners, and a pCT system prototype.Approach.Two phantoms were scanned with the three systems for their performance characterisation: a plastic phantom, filled with water and containing four plastic inserts and a wood insert, and a heterogeneous biological phantom, containing a formalin-stabilised bovine specimen. RSP maps were generated by converting CT numbers to RSP using a calibration based on low- and high-energy xCT images, while pCT utilised a distance-driven filtered back projection algorithm for RSP reconstruction. Spatial resolution, noise, and RSP accuracy were compared across the resulting images.Main results.All three systems exhibited similar spatial resolution of around 0.54 lp/mm for the plastic phantom. The PCCT images were less noisy than the DECT images at the same dose level. The lowest mean absolute percentage error (MAPE) of RSP,(0.28±0.07)%, was obtained with the pCT system, compared to MAPE values of(0.51±0.08)%and(0.80±0.08)%for the DECT- and PCCT-based methods, respectively. For the biological phantom, the xCT-based methods resulted in higher RSP values in most of the voxels compared to pCT.Significance.The pCT system yielded the most accurate estimation of RSP values for the plastic materials, and was thus used to benchmark the xCT calibration performance on the biological phantom. This study underlined the potential benefits and constraints of utilising such a novelex-vivophantom for inter-centre surveys in future.
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Fantasmas de Imagen , Plásticos , Protones , Tomografía Computarizada por Rayos X , Procesamiento de Imagen Asistido por Computador/métodos , Animales , Bovinos , Calibración , Rayos XRESUMEN
PURPOSE: Extracranial malignant rhabdoid tumors (eMRT) are a challenging entity. Despite the use of multimodal treatment approaches, therapy failure occurs in 55-67%. Molecular markers for identification of patients at increased risk for relapse or refractory (R/R) disease are not available. Clinical characteristics may only insufficiently predict the individual course of disease. EXPERIMENTAL DESIGN: Using the EU-RHAB database, we analyzed a cohort of 121 patients with eMRT clinically. For 81 patients, molecular and clinical data was available, which was complemented with publicly available DNA molecular data from 92 further eMRT. We aimed to delineate molecular risk factors by dissecting the DNA methylome of these tumors. Moreover, we establish clinical characteristics and treatment details of R/R disease in a subcohort of 80 patients. RESULTS: Using consensus hierarchical clustering, we identified three distinct subgroups, one of which (eMRT standard risk) was associated with significantly improved survival, irrespective of germline status and/or localization. At the transcriptome level, this subgroup is characterized by an overexpression of genes involved in muscle development. A relevant proportion of patients develop distant relapses or progressions; median time to the event was four months, underlining the need for early identification and risk-stratification of R/R disease. Overall survival was significantly decreased in patients with progressive disease when compared to relapse cases and reaching complete remission during salvage therapy provided a survival benefit. CONCLUSIONS: Our analysis of eMRT in this comprehensive cohort provides novel insights into the patterns of relapse and integrates molecular and clinical risk factors to guide clinical decision making.
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BACKGROUND: In solid tumors, the detection of locoregional lymph node metastases is of decisive importance not only for the prognosis but also for selecting the correct treatment. Various noninvasive imaging methods or, classically, lymph node dissection are available for this purpose. OBJECTIVE: This article presents the general principles of noninvasive lymph node diagnostics and discusses the value of the clinically available imaging modalities, ultrasound (US), computed tomography (CT), magnetic resonance imaging (MRI) and positron emission tomography (PET). In addition, recent new technical developments of each modality are highlighted. MATERIAL AND METHODS: Literature search and summary of the clinical and scientific experience of the authors. RESULTS: The available imaging procedures are divided into (1) morphological (US, CT, MRI) and (2) functional modalities (PET, special MRI). The former capture structural lymph node parameters, such as size and shape, while the latter address properties that go beyond morphology (e.g. glucose metabolism). The high diagnostic accuracy required for future treatment algorithms will require a combination of both aspects. DISCUSSION/CONCLUSION: Currently, none of the available modalities have sufficient accuracy to replace lymph node dissection in all oncological scenarios. One of the major challenges for interdisciplinary oncological research is to define the optimal interaction between imaging and lymph node dissection for different malignancies and tumor stages.
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Ganglios Linfáticos , Tomografía de Emisión de Positrones , Humanos , Ganglios Linfáticos/diagnóstico por imagen , Ganglios Linfáticos/patología , Tomografía Computarizada por Rayos X , Escisión del Ganglio Linfático , Metástasis Linfática/diagnóstico por imagen , Metástasis Linfática/patologíaRESUMEN
In photon-counting detector CT (PCD-CT), coronary artery calcium scoring (CACS) can be performed using virtual non-contrast (VNC) series derived from coronary CT angiography (CCTA) datasets. Our study analyzed image characteristics of VNC series in terms of the efficacy of virtual iodine "removal" and image noise to determine whether the prerequisites for calcium quantification were satisfied. We analyzed 38 patients who had undergone non-enhanced CT followed by CCTA on a PCD-CT. VNC reconstructions were performed at different settings and algorithms (conventional VNCConv; PureCalcium VNCPC). Virtual iodine "removal" was investigated by comparing histograms of heart volumes. Noise was assessed within the left ventricular cavity. Calcium was quantified on the true non-contrast (TNC) and all VNC series. The histograms were comparable for TNC and all VNC. Image noise between TNC and all VNC differed slightly but significantly. VNCConv CACS showed a significant underestimation regardless of the reconstruction setting, while VNCPC CACS were comparable to TNC. Correlations between TNC and VNC were excellent, with a higher predictive accuracy for VNCPC. In conclusion, the iodine contrast can be effectively subtracted from CCTA datasets. The remaining VNC series satisfy the requirements for CACS, yielding results with excellent correlation compared to TNC-based CACS and high predicting accuracy.
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Neurofibromatosis type 1 (NF1) is a phenotypically heterogenous multisystem cancer predisposition syndrome manifesting in childhood and adolescents. Central nervous system (CNS) manifestations include structural, neurodevelopmental, and neoplastic disease. We aimed to (1) characterize the spectrum of CNS manifestations of NF1 in a paediatric population, (2) explore radiological features in the CNS by image analyses, and (3) correlate genotype with phenotypic expression for those with a genetic diagnosis. We performed a database search in the hospital information system covering the period between January 2017 and December 2020. We evaluated the phenotype by retrospective chart review and imaging analysis. 59 patients were diagnosed with NF1 [median age 10.6 years (range, 1.1-22.6); 31 female] at last follow-up, pathogenic NF1 variants were identified in 26/29. 49/59 patients presented with neurological manifestations including 28 with structural and neurodevelopmental findings, 16 with neurodevelopmental, and 5 with structural findings only. Focal areas of signal intensity (FASI) were identified in 29/39, cerebrovascular anomalies in 4/39. Neurodevelopmental delay was reported in 27/59 patients, learning difficulties in 19/59. Optic pathway gliomas (OPG) were diagnosed in 18/59 patients, 13/59 had low-grade gliomas outside the visual pathways. 12 patients received chemotherapy. Beside the established NF1 microdeletion, neither genotype nor FASI were associated with the neurological phenotype. NF1 was associated with a spectrum of CNS manifestations in at least 83.0% of patients. Regular neuropsychological assessment complementing frequent clinical and ophthalmologic testing for OPG is necessary in the care of each child with NF1.
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Neurofibromatosis 1 , Glioma del Nervio Óptico , Humanos , Femenino , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/genética , Estudios Retrospectivos , Glioma del Nervio Óptico/diagnóstico , Glioma del Nervio Óptico/epidemiología , Glioma del Nervio Óptico/genética , Fenotipo , GenotipoRESUMEN
OBJECTIVES: The UK Biobank (UKBB) and German National Cohort (NAKO) are among the largest cohort studies, capturing a wide range of health-related data from the general population, including comprehensive magnetic resonance imaging (MRI) examinations. The purpose of this study was to demonstrate how MRI data from these large-scale studies can be jointly analyzed and to derive comprehensive quantitative image-based phenotypes across the general adult population. MATERIALS AND METHODS: Image-derived features of abdominal organs (volumes of liver, spleen, kidneys, and pancreas; volumes of kidney hilum adipose tissue; and fat fractions of liver and pancreas) were extracted from T1-weighted Dixon MRI data of 17,996 participants of UKBB and NAKO based on quality-controlled deep learning generated organ segmentations. To enable valid cross-study analysis, we first analyzed the data generating process using methods of causal discovery. We subsequently harmonized data from UKBB and NAKO using the ComBat approach for batch effect correction. We finally performed quantile regression on harmonized data across studies providing quantitative models for the variation of image-derived features stratified for sex and dependent on age, height, and weight. RESULTS: Data from 8791 UKBB participants (49.9% female; age, 63 ± 7.5 years) and 9205 NAKO participants (49.1% female, age: 51.8 ± 11.4 years) were analyzed. Analysis of the data generating process revealed direct effects of age, sex, height, weight, and the data source (UKBB vs NAKO) on image-derived features. Correction of data source-related effects resulted in markedly improved alignment of image-derived features between UKBB and NAKO. Cross-study analysis on harmonized data revealed comprehensive quantitative models for the phenotypic variation of abdominal organs across the general adult population. CONCLUSIONS: Cross-study analysis of MRI data from UKBB and NAKO as proposed in this work can be helpful for future joint data analyses across cohorts linking genetic, environmental, and behavioral risk factors to MRI-derived phenotypes and provide reference values for clinical diagnostics.
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Bancos de Muestras Biológicas , Imagen por Resonancia Magnética , Humanos , Femenino , Masculino , Imagen por Resonancia Magnética/métodos , Estudios de Cohortes , Abdomen/diagnóstico por imagen , Reino UnidoRESUMEN
This research addresses the assessment of adipose tissue (AT) and spatial distribution of visceral (VAT) and subcutaneous fat (SAT) in the trunk from standardized magnetic resonance imaging at 3 T, thereby demonstrating the feasibility of deep learning (DL)-based image segmentation in a large population-based cohort in Germany (five sites). Volume and distribution of AT play an essential role in the pathogenesis of insulin resistance, a risk factor of developing metabolic/cardiovascular diseases. Cross-validated training of the DL-segmentation model led to a mean Dice similarity coefficient of >0.94, corresponding to a mean absolute volume deviation of about 22 ml. SAT is significantly increased in women compared to men, whereas VAT is increased in males. Spatial distribution shows age- and body mass index-related displacements. DL-based image segmentation provides robust and fast quantification of AT (≈15 s per dataset versus 3 to 4 hours for manual processing) and assessment of its spatial distribution from magnetic resonance images in large cohort studies.
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Tejido Adiposo , Resistencia a la Insulina , Masculino , Humanos , Femenino , Tejido Adiposo/diagnóstico por imagen , Factores de Riesgo , Estudios de Cohortes , Imagen por Resonancia Magnética/métodosRESUMEN
In magnetic resonance imaging (MRI), the perception of substandard image quality may prompt repetition of the respective image acquisition protocol. Subsequently selecting the preferred high-quality image data from a series of acquisitions can be challenging. An automated workflow may facilitate and improve this selection. We therefore aimed to investigate the applicability of an automated image quality assessment for the prediction of the subjectively preferred image acquisition. Our analysis included data from 11,347 participants with whole-body MRI examinations performed as part of the ongoing prospective multi-center German National Cohort (NAKO) study. Trained radiologic technologists repeated any of the twelve examination protocols due to induced setup errors and/or subjectively unsatisfactory image quality and chose a preferred acquisition from the resultant series. Up to 11 quantitative image quality parameters were automatically derived from all acquisitions. Regularized regression and standard estimates of diagnostic accuracy were calculated. Controlling for setup variations in 2342 series of two or more acquisitions, technologists preferred the repetition over the initial acquisition in 1116 of 1396 series in which the initial setup was retained (79.9%, range across protocols: 73-100%). Image quality parameters then commonly showed statistically significant differences between chosen and discarded acquisitions. In regularized regression across all protocols, 'structured noise maximum' was the strongest predictor for the technologists' choice, followed by 'N/2 ghosting average'. Combinations of the automatically derived parameters provided an area under the ROC curve between 0.51 and 0.74 for the prediction of the technologists' choice. It is concluded that automated image quality assessment can, despite considerable performance differences between protocols and anatomical regions, contribute substantially to identifying the subjective preference in a series of MRI acquisitions and thus provide effective decision support to readers.
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Imagen por Resonancia Magnética , Humanos , Estudios de Cohortes , Estudios Prospectivos , Imagen por Resonancia Magnética/métodos , Curva ROC , Estudios LongitudinalesRESUMEN
OBJECTIVE: The purpose of this study was to evaluate enhancement characteristics of hepatocellular adenomas (HCAs) using gadoxetic acid as a hepatocyte-specific MR contrast agent. METHODS: Twenty-four patients with histopathologically proven HCAs were retrospectively identified. MRI consisted of T1- and T2-weighted (w) sequences with and without fat saturation (fs), multiphase dynamic T1-w images, and fs T1-w images during the hepatobiliary phase. Standard of reference was surgical resection (n = 19) or biopsy (n = 5). Images were analysed for morphology and contrast behaviour including signal intensity (SI) measurement on T1-w images normalised to the pre-contrast base line. RESULTS: In total 34 HCAs were evaluated. All HCAs showed enhancement in the arterial phase; 38 % of HCAs showed reduced contrast enhancement ("wash-out") in the venous phase. All HCAs showed enhancement (SI increase, 56 ± 53 %; P <0.001) in the hepatobiliary phase, although liver uptake was stronger (96 ± 58 %). Thus, 31 of all HCAs (91 %) appeared hypointense to the surrounding liver in the hepatobiliary phase, while 3 out of 34 lesions were iso-/hyperintense. CONCLUSIONS: Gadoxetic acid accumulates in HCAs in the hepatobiliary phase, although significantly less than in surrounding liver. Thus, HCA appears in the vast majority of cases as a hypointense lesion on hepatobiliary phase images. KEY POINTS: ⢠Magnetic resonance-specific contrast agents are now available for hepatic imaging. ⢠Hepatocellular adenomas enhance with gadoxetic acid as in previous CT/MRI experience. ⢠Enhancement during the hepatobiliary phase is less in HCAs than in liver. ⢠Typical HCAs appear as hypointense lesions on T1-w hepatobiliary phase images. ⢠True hyperintense HCA enhancement can occasionally occur during the hepatobiliary phase.
Asunto(s)
Adenoma de Células Hepáticas/diagnóstico , Adenoma de Células Hepáticas/patología , Medios de Contraste/farmacología , Gadolinio DTPA/farmacología , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/patología , Imagen por Resonancia Magnética/métodos , Adulto , Anciano , Arterias/patología , Biopsia/métodos , Diagnóstico por Imagen/métodos , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Persona de Mediana Edad , Estudios Retrospectivos , Tomografía Computarizada por Rayos X/métodosRESUMEN
Immediately after emergency caesarean section a 37 yr old patient suffered severe atonic bleeding requiring different operating procedures (Clipping of the uterine arteries) in combination with an uterotonic and haemostaseological medication as well as massive transfusion of blood components and recombinant factor VIIa. After a period of 17 days without any bleeding the patient presented to the emergency room with recurrent massive uterine bleeding. Transarterial embolization of the anterior bundles of the iliac arteries in combination with a second uterotonic and haemostaseological medication stopped the haemorrhage. Reasons and risk factors of a recurrent postpartum bleeding are discussed and a multidisciplinary algorithm for treatment is proposed.