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Total 174 results found since Jan 2013.

Two cases of dermatomyositis associated with neuroendocrine tumors
AbstractDermatomyositis is an idiopathic inflammatory myopathy with cutaneous manifestations, which is associated with several types of malignancies, yet it has been rarely linked to neuroendocrine tumors (NETs). Here we report two cases of dermatomyositis associated with NETs of differing primary sites. Case 1: A 46-year-old female presented with a facial rash and proximal muscle weakness of both extremities. Investigations revealed elevated creatine kinase (CK) and positive anti-transcriptional intermediary factor 1- γ antibody (TIF1γ). The patient had been diagnosed with dermatomyositis and underwent a total body CT s...
Source: International Cancer Conference Journal - August 31, 2023 Category: Cancer & Oncology Source Type: research

Macronodular adrenal hyperplasia causing Cushing's syndrome due to ARMC5 gene mutation.
Orv Hetil. 2023 Aug 13;164(32):1271-1277. doi: 10.1556/650.2023.32817. Print 2023 Aug 13.ABSTRACTOur 69-year-old female patient was investigated for a 20 kg weight gain over 2 years. The patient's medical history included hypertension, hyperuricemia, bilateral cataract surgery and musculosceletal complaints. Diabetes mellitus was not found. Physical examination revealed abdominal obesity, proximal myopathy and atrophic, vulnerable skin. The "overnight", low-dose and long, low-dose dexamethasone suppression tests indicated autonomous cortisol overproduction (plasma cortisol level: 172.6 and 153.2 nmol/L, cut-off: 50 nmol/L)...
Source: Orvosi Hetilap - August 13, 2023 Category: General Medicine Authors: Zolt án Hella Judit T őke Attila Pat ócs Zsolt Varga Gabriella Dabasi G ábor László Kovács Mikl ós Tóth Source Type: research

A case report of Sj ögren's syndrome complicated with immune-mediated necrotizing myopathy
Scand J Rheumatol. 2023 Jun 20:1-4. doi: 10.1080/03009742.2023.2202510. Online ahead of print.NO ABSTRACTPMID:37339374 | DOI:10.1080/03009742.2023.2202510
Source: Scandinavian Journal of Rheumatology - June 20, 2023 Category: Rheumatology Authors: Y Zhang F Zhu C Liu M Wang Source Type: research

Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E
Genetic testing is essential for patients with a suspected hereditary myopathy. More than 50% of patients clinically diagnosed with a myopathy carry a variant of unknown significance in a myopathy gene, often leaving them without a genetic diagnosis. Limb-girdle muscular dystrophy (LGMD) type R4/2E is caused by mutations in β-sarcoglycan (SGCB). Together, β-, α-, γ-, and δ-sarcoglycan form a 4-protein transmembrane complex (SGC) that localizes to the sarcolemma. Biallelic loss-of-function mutations in any subunit can lead to LGMD. To provide functional evidence for the pathogenicity of missense variants, we performed ...
Source: Journal of Clinical Investigation - June 15, 2023 Category: Biomedical Science Authors: Chengcheng Li, Jackson Wilborn, Sara Pittman, Jil Daw, Jorge Alonso-Pérez, Jordi Díaz-Manera, Conrad C. Weihl, Gabe Haller Source Type: research

Association of abnormal p ‐wave parameters with brain mri morphology: the atherosclerosis risk in communities neurocognitive study (ARIC‐NCS)
Conclusion: In this exploratory analysis of a US community-based cohort, ECG surrogates of atrial myopathy are associated with higher prevalence of brain infarcts and microhemorrhage, suggesting subclinical vascular brain injury as a possible mechanism underlying the association of atrial myopathy with dementia.This article is protected by copyright. All rights reserved
Source: Pacing and Clinical Electrophysiology : PACE - March 17, 2023 Category: Cardiology Authors: Jorge L. Reyes, Faye L. Norby, Yuekai Ji, Wendy Wang, Romil Parikh, Michael J. Zhang, Niki C. Oldenburg, Pamela L. Lutsey, Clifford R. Jack, Michelle Johansen, Rebecca F. Gottesman, Josef Coresh, Thomas Mosley, Elsayed Z. Soliman, Alvaro Alo Tags: ORIGINAL ARTICLE Source Type: research

Association of abnormal p-wave parameters with brain mri morphology: the atherosclerosis risk in communities neurocognitive study (ARIC-NCS)
CONCLUSION: In this exploratory analysis of a US community-based cohort, ECG surrogates of atrial myopathy are associated with higher prevalence of brain infarcts and microhemorrhage, suggesting subclinical vascular brain injury as a possible mechanism underlying the association of atrial myopathy with dementia. This article is protected by copyright. All rights reserved.PMID:36924350 | DOI:10.1111/pace.14687
Source: Atherosclerosis - March 16, 2023 Category: Cardiology Authors: Jorge L Reyes Faye L Norby Yuekai Ji Wendy Wang Romil Parikh Michael J Zhang Niki C Oldenburg Pamela L Lutsey Clifford R Jack Michelle Johansen Rebecca F Gottesman Josef Coresh Thomas Mosley Elsayed Z Soliman Alvaro Alonso Lin Yee Chen Source Type: research

Pneumomediastinum, pneumatosis intestinalis and pneumoperitoneum in a patient with polymyositis: case-based review
We present a 59-year-old polymyositis (PM) patient who experienced all three complications simultaneously. The patient who presented with proximal muscle weakness, dysphagia, and weight loss was diagnosed with PM due to elevated muscle enzymes and consistent electromyography and muscle biopsy with inflammatory myopathy. On the 45th day of her immunosuppressive treatment, PnM, PI, and PP were detected incidentally in18F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) scan performed for severe weight loss and treatment-resistant severe disease. Since the patient had no symptoms or signs o...
Source: Rheumatology International - March 12, 2023 Category: Rheumatology Source Type: research

Ectopic adrenocorticotrophic hormone syndrome secondary to treatment-related neuroendocrine differentiation of metastatic castrate-resistant prostate cancer
Endocrinol Diabetes Metab Case Rep. 2023 Jan 1;2023:22-0347. doi: 10.1530/EDM-22-0347. Online ahead of print.ABSTRACTSUMMARY: A 64-year-old man with progressive metastatic castrate-resistant prostate adenocarcinoma presented with recurrent fluid overload, severe hypokalaemia with metabolic alkalosis and loss of glycaemic control. Clinical features were facial plethora, skin bruising and proximal myopathy. Plasma adrenocorticotrophic hormone (ACTH), serum cortisol and 24-h urinary cortisol levels were elevated. Low-dose dexamethasone failed to suppress cortisol. Pituitary MRI was normal and 68Gallium-DOTATATE PET-CT scan sh...
Source: Cancer Control - January 10, 2023 Category: Cancer & Oncology Authors: Chelsea Tan Jessica Triay Source Type: research