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BACKGROUND: Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is an autosomal dominant autoinflammatory disorder stemming from mutations in the TNFRSF1A gene affecting the tumor necrosis factor receptor (TNFR)-1. These mutations lead to dysregulated inflammatory responses, primarily mediated by augmented interleukin (IL)-1ß release. CASE PRESENTATION: We present the case of a 29-year-old woman with a history of recurrent febrile episodes, abdominal pain, and joint manifestations, eventually diagnosed with TRAPS following genetic testing revealing a heterozygous R92Q mutation in TNFRSF1A. Further genetic examinations unveiled additional clinically significant mutations, complicating the clinical picture. Our patient exhibited delayed colonic transit time and right colonic amyloidosis, a rare complication. Surgical intervention was required for overwhelming intestinal obstruction, revealing mucosal atrophy and dense lymphocytic infiltrates on histological examination. DISCUSSION: Gastrointestinal involvement in TRAPS is common but can present diagnostic challenges. Following colon resection, histological examination revealed amyloid deposition, underscoring the importance of a comprehensive evaluation of these patients. Isolated colic amyloidosis has significant diagnostic and prognostic implications, warranting cautious monitoring and tailored management strategies. Treatment of TRAPS typically involves anti-inflammatory agents such as IL-1 inhibitors, with our patient experiencing clinical improvement on anakinra and canakinumab. CONCLUSION: This case report emphasizes the diverse manifestations of TRAPS and the importance of recognizing gastrointestinal complications, particularly isolated colic amyloidosis. Comprehensive evaluation, including histological examination, is crucial for identifying atypical disease presentations and guiding management decisions. Continued research is needed to elucidate the underlying mechanisms and optimize treatment strategies for TRAPS and its associated complications.
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BACKGROUND: 68Ga-PSMA PET/CT is superior to standard-of-care imaging for detecting regional and distant metastatic recurrent prostate cancer. The objective of our study was to evaluate the performance of 68Ga-PSMAPET/CT in our patient population, using the new PSMA-RADS version 2.0. METHODS: A total of 128 patients scanned with 68Ga-PSMA PET/CT for detection of recurrence after RP were analyzed with PSMA-RADS version 2.0. For the analysis of the detection rate, categories PSMA-RADS 3 to 5 were considered as "positive for malignancy" and 1-2 as "negative". RESULTS: According to PSMA-RADS v2.0, we classified patients as follows: 23 patients without PSMA-RADS because they were negative; PSMA-RADS 1: 10 patients; PSMA-RADS 2: 4 patients; PSMA-RADS 3A: 11 patients; PSMA-RADS 3B: 2 patients; PSMA-RADS 3C: 2 patients; PSMA-RADS 3D: 2 patients; PSMA-RADS 4: 13 patients; PSMA-RADS 5: 61 patients. CONCLUSIONS: The overall detection rate of 68Ga-PSMA PET/CT was 71%. By dividing the patients into fourgroups according to PSA level before examination, we obtained the following detection rates: PSA < 0.2 ng/mL 38%; 0.2 ≤ PSA < 0.5 ng/mL 57%; 0.5 ≤ PSA ≤ 1 ng/mL 77%; and PSA > 1 ng/mL 95%. CONCLUSION: Using PSMA-RADS version 2.0, we obtained detection rate values comparable with recent literature both in absolute terms and in relation to different PSA levels.
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Retroperitoneal sarcomas are rare neoplasms . They frequently reach a very large size and invade adjacent organs before they are detected. Involvent of the inferior vena cava is uncommon. Distant metastases are a late feature. The mainstay of treatment is compartmental resection and contiguous organ resection. We report two cases of right-sided massive primary retroperitoneal leiomyosarcoma in pauci symptomatic women. In both cases treatment consisted of radical surgery. En bloc resection of the tumor and surrounding tissues and organs as well as part of the right wall of the subrenal IVC. To close the wall defect direct suture repair was used resulting in a reduced caliber but no hemodynamic sequelae or endoluminal thrombi. All the resection margins, including the inferior vena cava wall, were negative. The postoperative course was unremarkable and caval blood flow was optimal. The current gold standard treatment for retroperitoneal sarcoma is en bloc multivisceral resectionresection. KEY WORDS: Peritoneal sarcoma, Surgery, Vena cava.
Subject(s)
Leiomyosarcoma , Retroperitoneal Neoplasms , Sarcoma , Soft Tissue Neoplasms , Vascular Neoplasms , Humans , Female , Vena Cava, Inferior/surgery , Vena Cava, Inferior/pathology , Vascular Neoplasms/surgery , Vascular Neoplasms/pathology , Retroperitoneal Neoplasms/surgery , Retroperitoneal Neoplasms/pathology , Sarcoma/surgery , Veins , Leiomyosarcoma/surgery , Leiomyosarcoma/pathology , Soft Tissue Neoplasms/pathologySubject(s)
Hypoplastic Left Heart Syndrome , Positron Emission Tomography Computed Tomography , Humans , Child , Positron Emission Tomography Computed Tomography/methods , Fluorodeoxyglucose F18 , Hypoplastic Left Heart Syndrome/diagnostic imaging , Positron-Emission Tomography , RadiopharmaceuticalsABSTRACT
The currently available nebulization devices have a slow aerosol flow and produce vapor with large microdrops. Improved devices that achieve higher airflow and produce smaller microdrops are needed to improve the clinical care of patients. To address this critical need, we developed a novel system for the molecular vaporization of liquids. This device vaporizes an active pharmacological substance dissolved in water, alcohol, or a mixture of water and alcohol using two energy sources at the same time: high-frequency ultrasound and thermal induction. Application of energy to a solution contained in the device's tank allows, within tens of seconds, for the vaporization of the solution itself, with the generation of a vapor consisting of microdrops of very small diameter (0.2-0.3 µm). In this article, we illustrate the technology used, the main verification tests performed, and the primary fields of application for this device. In particular, the advantages of both the aerosol delivery system and the administration system are highlighted.
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Retroperitoneal soft tissue tumors are frequently incidental findings on imaging tests as Computed tomography (CT) or Magnetic Resonance Imaging (MRI). Retroperitoneal soft tissue tumors are rare and therefore not common in daily radiological practice. Clinician and radiologist'skills to set retroperitoneal soft tissue tumors at presentation is crucial for a correct patient management. So far, several diagnostic algorithms have been proposed to assess retroperitoneal masses, which have not been validated by case histories (2-5). The aim of this article is to evaluate a new classification of retroperitoneal masses using CT and MRI. KEY WORDS: CT, Diagnosis, MRI, Retroperitoneum, Soft tissue sarcoma.
Subject(s)
Retroperitoneal Neoplasms , Sarcoma , Soft Tissue Neoplasms , Humans , Magnetic Resonance Imaging , Retroperitoneal Neoplasms/diagnosis , Sarcoma/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
Congenital hyperinsulinism (HI) is a life-threatening condition characterized by severe and recurrent episodes of hypoglycaemia due to defects in key genes involved in regulating insulin secretion. The delay in diagnosis and inappropriate management of HI lead to high risk of permanent hypoglycemic brain injury. The management of HI is challenging as each form of HI (focal, diffuse, and atypical) requires its own therapeutic strategy. In HI diagnostic work-up, integrated PET/CT scan is currently the first-line imaging technique allowing to differentiate between diffuse and focal form and, in the latter case, to localize the focus within the pancreas with high precision. Only in focal HI partial pancreatectomy is the treatment of choice and a curative surgical treatment means a real chance of transforming patient's lives and HI patient's future. The aim of this review is to discuss the role of PET/CT imaging in HI scenario, its technical advantages and limitations and how successful surgery is strongly dependent on accurate preoperative assessment (genetic analysis and PET/CT scan). A multidisciplinary approach in HI diagnosis and treatment inside a single team (involving different expertise) allows to manage children safely and properly, supporting their families in an organized care network.
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The use 18F-DOPA PET/CT for oncologic and non-oncologic pediatric diseases is well consolidated in clinical practice. The indications include brain tumors, neuroendocrine malignancies and congenital hyperinsulinism. The number of papers involving pediatric subjects is steadily growing. However, literature still lacks clinical trials and large multicentric studies in contrast with the extensive literature available for adult patients. The aim of this review is to discuss the main clinical indications of 18F-DOPA in pediatric oncologic and nononcologic diseases and to analyze its role in diagnosis, staging, biopsy and surgical planning. The high resolution of PET/CT tomographs in addition to the high sensitivity and specificity of 18F-DOPA imaging exceeds the downsides linked to this nuclear medicine imaging modality. In fact, few potential limitations could discourage the use of PET/CT imaging. For example, similarly to MRI studies the long acquisition time of a PET/CT scan often requires sedation especially in infants. Moreover, the radiation exposure of a PET/CT scan may be high, but the clinical benefit deriving from nuclear medicine imaging outruns the risk connected to the use of ionizing radiations.
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Seminal vesicles are paired secretory glands located posterior to the bladder in men that produce seminal fluid to maintain sperm. Seminal vesicle reflux into the prostatic ducts may be associated with prostatitis in older patients or may represent a very rare complication of transurethral prostate resection in patients with prostatic cancer. This condition is frequently accidentally diagnosed on excretory urography and/or retrograde urethrogram. Clinical presentation includes pain, fever, recurrent epididymitis-prostatitis, and post void dribbling.
Subject(s)
Choline/analogs & derivatives , Positron Emission Tomography Computed Tomography , Prostatic Neoplasms/diagnostic imaging , Prostatic Neoplasms/surgery , Seminal Vesicles/physiopathology , Transurethral Resection of Prostate/adverse effects , Aged , Diagnosis, Differential , Humans , Male , Middle Aged , Neoplasm Invasiveness , Prostatic Neoplasms/pathology , Prostatitis/etiology , Prostatitis/physiopathologyABSTRACT
The use of PET/CT in adult oncology has been consolidated by several and authoritative multicentric studies, metanalyses and systematic reviews. International guidelines help everyday nuclear medicine specialists, oncologists and radiologists in choosing the most suitable diagnostic path for each patient. Classifications based on traditional imaging and PET/CT findings define the most appropriate treatment and can predict the outcome for different types of malignancies. However, compared to adult patients the use of PET/CT in pediatric oncology is often burdened by lack of systematic and large multicentric studies and consequently accurate and precise guidelines. The cause of this shortage of large trials may be attributed to the rarity of these neoplasms and to the fear of long-term radiation effects on this peculiar category of patients. The aim of this article is to review the applications of PET/CT for imaging the most common pediatric neoplasms.
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BACKGROUND/OBJECTIVE: A preoperative reliable classification system between clinical and computed tomography (CT) findings to better plan surgery in acute complicated diverticulitis (ACD) is lacking. We studied the inter-observer agreement of CT scan data and their concordance with the preoperative clinical findings and the adherence with the intraoperative status using a new classification of diverticular disease (CDD). METHODS: 152 patients operated on for acute complicated diverticulitis (ACD) were retrospectively enrolled. All patients were studied with CT scan within 24 h before surgery and CT images were blinded reanalyzed by 2 couples of radiologists (A/B). Kappa value evaluated the inter-observer agreement between radiologists and the concordance between CDD, preoperative clinical findings and findings at operation. Univariate and multivariate analysis were used to evaluate the predicting values of CT classification and CDD stage at surgery on postoperative outcomes. RESULTS: Overall inter-observer agreement for the CDD was high, with a kappa value of 0.905 (95% CI = 0.850-0.960) for observers A and B, while the concordance between radiological and surgical findings was weak (kappa values = 0.213 and 0,248, respectively and 95% CI = 0.106 to 0.319 and 95% CI = 0.142 to 0.355, respectively). When overall morbidity, mortality and the need of a terminal colostomy were considered as main endpoints no concordance was observed between surgical and radiological findings and the CDD (P=NS). CONCLUSIONS: The need for a more accurate classification of ACD, able to better stage this emergency, and to provide surgeons with reliable information for the best treatment is advocated.
Subject(s)
Diverticulitis, Colonic/diagnostic imaging , Diverticulitis, Colonic/pathology , Tomography, X-Ray Computed , Acute Disease , Aged , Digestive System Surgical Procedures , Diverticulitis, Colonic/classification , Diverticulitis, Colonic/surgery , Female , Humans , Male , Middle Aged , Predictive Value of Tests , Retrospective Studies , Treatment OutcomeABSTRACT
INTRODUCTION: Device-assisted enteroscopy is a new endoscopic technique for the evaluation of small bowel in adults and children. Data in pediatric population are limited. This review aims to identify diagnostic and therapeutic benefits of enteroscopy in children. METHODS: We have analysed paediatric literature on device-assisted enteroscopy focusing on indications, technical aspects and complications, with attention given to adult publications that may be applicable to the paediatric population. RESULTS: Obscure gastrointestinal bleeding, Crohn's disease and small bowel polyps are the main indications of enteroscopy in children. Device-assisted enteroscopy has high diagnostic yield for the main paediatric indications, but MR-enterography and capsule endoscopy should be used beforehand in diagnostic work-up to better identify candidates for enteroscopy and to improve its diagnostic and therapeutic yield. Major complications are rare and mostly related to therapeutic procedures. CONCLUSION: Despite limited data in the paediatric population, device-assisted enteroscopy represents a useful and safe endoscopic technique in children. Its use, combined with MR-enterography and capsule endoscopy, allows identification and treatment of many of the small bowel paediatric diseases with a low risk of complications.
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OBJECTIVES: To evaluate the performance of Magnetic Resonance enterography (MRE) in the diagnostic work-up of children presenting with obscure gastrointestinal bleeding (OGIB). MATERIALS AND METHODS: From January 2014 to January 2016, a single-centre prospective study was performed on all children between 0 and 16 years of age referred to the radiology department for OGIB. Each child underwent MRE examination after negative oesophagogastroduodenoscopy and ileocolonoscopy. MRE results were recorded. All patients proceeded to the related gold standard for diagnostic confirmation. RESULTS: 25 patients (mean age 10.8±4.5 years, range 4 months to 16 years) were included. MRE was diagnostic in 76% (19 of 25). The most frequent diagnoses were intestinal polyp (28%) and Meckel's diverticulum (16%). Sensitivity and specificity of MRE were 86% and 100% respectively. There were no reported complications during any of the examinations. CONCLUSION: MRE is a safe and accurate imaging modality in the evaluation of paediatric OGIB. Its diagnostic capability is comparable to current evidence for capsule endoscopy in this patient group. Further research with larger sample sizes and standardized control groups is warranted to improve our understanding of MRE in this application.
Subject(s)
Gastrointestinal Hemorrhage/etiology , Adolescent , Capsule Endoscopy/methods , Child , Child, Preschool , Female , Humans , Infant , Intestinal Polyps/complications , Intestinal Polyps/diagnosis , Magnetic Resonance Imaging/methods , Male , Meckel Diverticulum/complications , Meckel Diverticulum/diagnosis , Prospective Studies , Sensitivity and SpecificityABSTRACT
In children, epiploic appendagitis has been seldom reported. We describe two children with clinical presentations mimicking appendicitis. A correct diagnosis was eventually achieved by magnetic resonance imaging (MRI) and confirmed at laparoscopy in the initial case. Our preliminary experience suggests that MRI is a valid and non-invasive alternative to computed tomography for characterization of unusual causes of pediatric abdominal pain in the acute hospital care setting.
Subject(s)
Abdominal Pain/diagnosis , Appendicitis/diagnosis , Magnetic Resonance Imaging/methods , Abdominal Pain/etiology , Appendectomy/methods , Appendicitis/complications , Appendicitis/surgery , Child , Child, Preschool , Diagnosis, Differential , Humans , Laparoscopy/methods , Male , Tomography, X-Ray ComputedABSTRACT
Crohn's disease affects more than 500000 individuals in the United States, and about 25% of cases are diagnosed during the pediatric period. Imaging of the bowel has undergone dramatic changes in the past two decades. The endoscopy with biopsy is generally considered the diagnostic reference standard, this combination can evaluates only the mucosa, not inflammation or fibrosis in the mucosa. Actually, the only modalities that can visualize submucosal tissues throughout the small bowel are the computed tomography (CT) enterography (CTE) with the magnetic resonance enterography (MRE). CT generally is highly utilized, but there is growing concern over ionizing radiation and cancer risk; it is a very important aspect to keep in consideration in pediatric patients. In contrast to CTE, MRE does not subject patients to ionizing radiation and can be used to detect detailed morphologic information and functional data of bowel disease, to monitor the effects of medical therapy more accurately, to detect residual active disease even in patients showing apparent clinical resolution and to guide treatment more accurately.
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PURPOSE: To prospectively compare the accuracies of computed tomographic (CT) enterography and magnetic resonance (MR) enterography for the detection and characterization of small-bowel diseases. MATERIALS AND METHODS: The institutional review board approved the study protocol, and informed consent was obtained from all participants. From June 2009 to July 2013, 150 consecutive patients (81 men and 69 women; mean age, 38.8 years; range, 18-74 years), who were suspected of having a small-bowel disease on the basis of clinical findings and whose previous upper and lower gastrointestinal endoscopy findings were normal, underwent CT and MR enterography. Two independent readers reviewed CT and MR enterographic images for the presence of small-bowel diseases, for differentiating between inflammatory and noninflammatory diseases, and for extraenteric complications. The histopathologic findings of surgical (n = 23) and endoscopic (n = 32) biopsy specimens were used as the reference standard; the results of video-capsule endoscopy (n = 36) and clinical follow-up (n = 59) were used only to confirm the absence of small-bowel disease. RESULTS: MR and CT enterography were successfully performed in all 150 patients. Overall sensitivity, specificity, and accuracy, respectively, in identifying patients with small-bowel lesions were 75.9% (41 of 54), 94.8% (91 of 96), and 88.0% (132 of 150) for CT enterography and 92.6% (50 of 54), 99.0% (95 of 96), and 96.7% (145 of 150) for MR enterography. The sensitivity of MR enterography was significantly higher than that of CT enterography for the detection of both overall small-bowel diseases (P = .0159) and neoplastic diseases (P = .0412) but not for the detection of inflammatory diseases (P > .99) or noninflammatory and nonneoplastic diseases (P = .6171). CONCLUSION: MR enterography is more accurate than CT enterography in the detection of small-bowel diseases; MR enterography was more accurate in detecting neoplastic diseases in particular.
Subject(s)
Intestinal Diseases/diagnosis , Intestine, Small , Magnetic Resonance Imaging/methods , Tomography, X-Ray Computed/methods , Adolescent , Adult , Aged , Biopsy , Capsule Endoscopy , Diagnosis, Differential , Endoscopy, Gastrointestinal , Female , Humans , Male , Middle Aged , Prospective StudiesABSTRACT
BACKGROUND AND AIMS: Data on colon capsule endoscopy (CCE) in evaluating the small bowel and colon concurrently are rare. This study aimed to evaluate the accuracy of CCE in assessing disease activity of the small bowel and colon in pediatric Crohn's disease (CD) by comparison with magnetic resonance enterography (MRE), small-intestine contrast US (SICUS), and ileocolonoscopy. METHODS: We prospectively enrolled 40 consecutive patients (22 male, 18 female, mean age 13.1 ± 3.1 years) with CD of the small bowel and colon. All underwent SICUS, MRE, CCE, and ileocolonoscopy sequentially over 5 days. All investigators were blinded to patient history and test results. Patients were classified as active or inactive for the small bowel and the colon according to specific criteria for each tool (simple endoscopic score for CD, Lewis score, US and magnetic resonance parameters of activity). For colon mucosa evaluation, ileocolonoscopy was the comparator. For the small bowel, a consensus panel was convened. RESULTS: Sensitivity of CCE to detect colon inflammation was 89%, and specificity was 100%. The positive predictive value (PPV) and negative predictive value (NPV) of CCE for colon inflammation were 100% and 91%, respectively. In the small bowel, CCE showed 90% sensitivity, 94% specificity, with PPV and NPV of 95% and 90%, respectively. Accuracy parameters for SICUS (sensitivity 90%, specificity 83%) and MRE (sensitivity 85%, specificity 89%) were lower than those for CCE. No serious adverse events related to the CCE procedure or preparation were reported. CONCLUSIONS: CCE is of great usefulness in evaluating both small bowel and colon mucosa in pediatric CD. This single, noninvasive tool makes it possible to evaluate the small-bowel and the colon concurrently with high diagnostic accuracy. Future multicenter studies need to define the role of CCE in the routine management of pediatric patients with CD. ( CLINICAL TRIAL REGISTRATION NUMBER: NCT02199626.).
Subject(s)
Capsule Endoscopy , Colitis/diagnostic imaging , Crohn Disease/diagnostic imaging , Enteritis/diagnostic imaging , Adolescent , Capsule Endoscopy/adverse effects , Child , Colonoscopy , Contrast Media , Female , Humans , Magnetic Resonance Imaging , Male , Observer Variation , Predictive Value of Tests , Prospective Studies , UltrasonographyABSTRACT
The study of the small bowel (SB) has always been challenging both for clinicians and radiologist. It is a long and tortuous tube that can be affected by various pathologies whose signs and symptoms are usually non specific and can mimic other acute abdominal disorders. For these reasons, imaging plays a central role in the diagnosis of the different pathological conditions that can occur. They are important also in the management and follow up of chronic diseases. We expose and evaluate all the radiological methods that are now available for the study of the SB with particular emphasis on the technological improvement of cross-sectional imaging, such as computed tomography (CT) and magnetic resonance imaging (MRI). These techniques have, infact, highly improved in terms of execution times (fast acquisitions images), patients discomfort and radiation dose, for CT, with consequent reduced biological risks. Moreover, the new post-processing options with multiplanar reconstruction and isotropic images have made significant changes in the evaluation of the exams. Especially MRI scans have been improved by the advent of new sequences, such as diffusion weighted imaging and cine-MRI, parallel imaging and breath-hold sequences and can provide excellent soft-tissue contrast without the use of ionizing radiations.
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The use of imaging in the management of inflammatory bowel disease (IBD) has grown exponentially in the last few years. This has raised concerns about the risk of high cumulative level of radiation exposure from medical imaging in IBD patients during their lifetime, especially when the disease begins in pediatric age. Physicians caring for IBD children should be aware of the malignant potential of ionizing radiation and of the availability of alternative radiation-free techniques such as magnetic resonance imaging (MRI) and ultrasonography (US), in order to use them whenever possible. This review will focus on the value of US and MRI in pediatric IBD.
Subject(s)
Diagnostic Imaging/methods , Inflammatory Bowel Diseases/diagnosis , Radiation Exposure/prevention & control , Adolescent , Child , Child, Preschool , Humans , Inflammatory Bowel Diseases/diagnostic imaging , Magnetic Resonance Imaging/methods , Radiation Dosage , Radiation Injuries/prevention & control , Risk Factors , UltrasonographyABSTRACT
Pregnant women with an acute abdomen present a critical issue due to the necessity for an immediate diagnosis and treatment; in fact, a diagnostic delay could worsen the outcome for both the mother and the fetus. There is evidence that emergencies during pregnancy are subject to mismanagement; however, the percentage of errors in the diagnosis of emergencies in pregnancy has not been studied in depth. The purpose of this article is to review the most common imaging error emergencies. The topics covered are divided into gynecological and non-gynecological entities and, for each pathology, possible errors have been dealt with in the diagnostic pathway, the possible technical errors in the exam execution, and finally the possible errors in the interpretation of the images. These last two entities are often connected owing to a substandard examination, which can cause errors in the interpretation. Consequently, the systemization of errors reduces the possibility of reoccurrences in the future by providing a valid approach in helping to learn from these errors.