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Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up.

ABSTRACT: Fabry disease is a rare metabolic glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme ?-galactosidase A--leading to cellular accumulation of globotriasylceramide in different organs, vessels, tissues, and nerves. The disease is associated with an increased risk of cerebrovascular disease at a young age in addition to heart and kidney failure.The objective of this study was to assess brain function and structure in the Danish cohort of patients with Fabry disease in a prospective way using 18-fluoro-deoxyglucose (F-18 FDG) positron emission tomography (PET) and magnetic resonance imaging (MRI).Forty patients with Fabry disease (14 males, 26 females, age at inclusion: 10-66 years, median: 39 years) underwent a brain F-18-FDG-PET-scan at inclusion, and 31 patients were followed with FDG-PET biannually for up to seven years. All patients (except one) had a brain MRI-scan at inclusion, and 34 patients were followed with MRI biannually for up to nine years.The FDG-PET-images were inspected visually and analysed using a quantitative 3-dimensional stereotactic surface projection analysis (Neurostat). MRI images were also inspected visually and severity of white matter lesions (WMLs) was graded using a visual rating scale.In 28 patients brain-FDG-PET was normal; in 23 of these 28 patients brain MRI was normal--of the remaining five patients in this group, four patients had WMLs and one patient never had an MRI-scan. In 10 patients hypometabolic areas were observed on brain-FDG-PET; all of these patients had cerebral infarcts/hemorrhages visualized on MRI corresponding to the main hypometabolic areas. In two patients brain-FDG-PET was ambiguous, while MRI was normal in one and abnormal in the other.Our data indicated that, in patients with Fabry disease, MRI is the preferable clinical modality--if applicable--when monitoring cerebral status, as no additional major brain-pathology was detected with FDG-PET.

SUBMITTER: Korsholm K

PROVIDER: S-EPMC4667906 | biostudies-other | 2015

REPOSITORIES: biostudies-other

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Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up.

Korsholm Kirsten K Feldt-Rasmussen Ulla U Granqvist Henrik H Højgaard Liselotte L Bollinger Birgit B Rasmussen Aase K AK Law Ian I

PloS one 20151202 12

<h4>Background</h4>Fabry disease is a rare metabolic glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A--leading to cellular accumulation of globotriasylceramide in different organs, vessels, tissues, and nerves. The disease is associated with an increased risk of cerebrovascular disease at a young age in addition to heart and kidney failure.<h4>Objective</h4>The objective of this study was to assess brain function and structure in the Danish cohort ...[more]

PMID: 26629990

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Project description:BackgroundThe hybrid imaging positron emission tomography/magnetic resonance (PET/MR) is an important tool in the management of pediatric oncology patients, particularly in malignant musculoskeletal pathologies, because it combines the functional and metabolic information of tumor provided by PET with the high soft-tissue contrast and the functional information offered by magnetic resonance imaging (MRI).MethodsWe performed an observational retrospective study that included pediatric patients diagnosed with primary bone or soft-tissue sarcomas in the Pediatric Hematology and Oncology Unit at the HM Montepríncipe University Hospital, Boadilla del Monte, Madrid (Spain) who underwent whole-body 18F-fluorodeoxyglucose (18F-FDG) PET/MRI as a staging study and for follow-up evaluation for treatment response from September 2017 to January 2023. This study explores the protocols, the practical application of the PET/MRI technique and our clinical experience at our center in the diagnosis and follow-up of primary bone tumors and soft-tissue sarcomas in children.ResultsSeventy-one 18F-PET/MR studies were performed on 39 patients. Most of them (55%) were initial extension studies and (45%) were follow-up studies. Most of the patients studied were male (74.4%) with a median age of 15 years. Of the 39 cases, 51% were primary bone tumors while 18% were Langerhans cell histiocytosis and 21% soft tissue tumors. Of the 71 studies, five showed metastases at the initial diagnosis, three presented lymph node involvement, one with local infiltration, and one with pulmonary metastasis.ConclusionsPET/MR has represented a significant advancement in the evaluation of pediatric malignant neoplasms, with specific applications in musculoskeletal tumors showing clear benefits over PET/CT. The primary advantage is the reduction in ionizing radiation doses and the assessment of soft tissues, making it an excellent option for malignant musculoskeletal pathologies in pediatric patients who often require long-term follow-up. It is particularly useful for early tumor detection and functional therapy monitoring in oncology. The development of new protocols is making studies increasingly faster and better tolerated, even without the need for anesthesia. PET/MRI has shown to increase diagnostic accuracy in primary bone and soft tissue tumors, as it allows for the comprehensive evaluation of their morpho-metabolic characteristics, locoregional, and distant involvement in a single study. It is also useful in surgical planning and post-treatment follow-up.

Project description:ImportanceMyocardial replacement fibrosis has been reported to occur in one-third of patients with mitral valve prolapse (MVP) and significant mitral regurgitation (MR). However, it remains unknown whether there are detectable changes in myocardial metabolism suggestive of inflammation or ischemia that accompany the development of fibrosis.ObjectivesTo characterize the burden and distribution of fluorine 18-labeled (18F) fluorodeoxyglucose (FDG) uptake and late gadolinium enhancement (LGE) in patients with degenerative MVP and ventricular ectopy.Design, setting, and participantsProspective observational study of 20 patients with MVP and significant primary degenerative MR who were referred for mitral valve repair and underwent hybrid positron emission tomography/magnetic resonance imaging (PET/MRI). Ventricular arrhythmias were categorized as either complex (n = 12) or minor (n = 8). Coregistered hybrid 18F FDG-PET and MRI LGE images were assessed and categorized. Recruitment occurred in the new patient clinic of a mitral valve repair reference center. This study was conducted from January 11, 2018, to June 26, 2019.ExposuresSimultaneous cardiac 18F FDG-PET and MRI with LGE imaging on a hybrid PET/MRI system and ambulatory rhythm monitoring.Main outcomes and measuresPatients were categorized by the presence and pattern of FDG uptake and LGE, the severity of ventricular arrhythmias, and the indication for mitral valve surgery.ResultsIn the cohort of 20 patients, the median age was 59.5 years (interquartile range, 52.5-63.2 years). Focal, or focal-on-diffuse uptake, of 18F-FDG (PET positive) was detected in 17 of 20 patients (85%). The FDG uptake coexisted with areas of LGE (PET/MRI positive) in 14 patients (70%). Of the 5 asymptomatic patients with normal ventricular indices and absence of any surgical indications, all were PET/MRI positive.Conclusions and relevanceIn this pilot study, we demonstrate a novel association between degenerative MVP and FDG uptake, a surrogate for myocardial inflammation and/or ischemia. Such evidence of myocardial injury, even in asymptomatic patients, suggests an ongoing subclinical disease process. These findings warrant further investigation into whether imaging for myocardial inflammation, ischemia, and scar has a role in arrhythmic risk stratification and whether it provides incremental prognostic value in patients with chronic severe mitral regurgitation undergoing active surveillance.

Dataset Information

Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up.

Publications

Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up.

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