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In the Metabolic Disorder clinic at The Hospital for Sick Children, the investigators identified a male, proband with possible Luft's disease. The investigators hypothesize that Luft's disease is caused by excess or dysregulation of brown/beige fat tissue.
To address the hypothesis, the investigators would like to assess brown fat distribution and activity in this subject.
The subject will undergo a fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography (18F FDG PET/CT) at the Diagnostic Imaging unit of The Hospital for Sick Children.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| One subject with possible Luft's disease | Experimental | 18F-FDG will be administered I.V., approximately 1 hour prior to PET/CT scan. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 18F FDG PET/CT | Diagnostic Test | 18F FDG PET/CT imaging (fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography). |
|
| Measure | Description | Time Frame |
|---|---|---|
| Brown/beige fat tissue distribution and activity. Measurement tool- 18F FDG PET/CT (fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography) | Areas of 18F-FDG uptake on PET colocalizing with regions of fat will be identified on CT (-250to -10 Hounsfield Units) and quantified by Standard Uptake Value (SUV). | 1 day |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Andreas Schulze, MD | The Hospital for Sick Children | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| The Hospital for Sick Children | Toronto | Canada |
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| ID | Term |
|---|---|
| C565498 | Hypermetabolism due to Defect in Mitochondria |
| D017240 | Mitochondrial Myopathies |
| ID | Term |
|---|---|
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
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| D028361 | Mitochondrial Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |