Evolving Role of Molecular Imaging with <Superscript>18</Superscript>F-Sodium Fluoride PET as a Biomarker for Calcium Metabolism

¹⁸F-sodium fluoride (NaF) as an imaging tracer portrays calcium metabolic activity either in the osseous structures or in soft tissue. Currently, clinical use of NaF-PET is confined to detecting metastasis to the bone, but this approach reveals indirect evidence for disease activity and will have limited use in the future in favor of more direct approaches that visualize cancer cells in the read marrow where they reside. This has proven to be the case with FDG-PET imaging in most cancers. However, a variety of studies support the application of NaF-PET to assess benign osseous diseases. In particular, bone turnover can be measured from NaF uptake to diagnose osteoporosis. Several studies have evaluated the efficacy of bisphosphonates and their lasting effects as treatment for osteoporosis using bone turnover measured by NaF-PET. Additionally, NaF uptake in vessels tracks calcification in the plaques at the molecular level, which is relevant to coronary artery disease. Also, NaF-PET imaging of diseased joints is able to project disease progression in osteoarthritis, rheumatoid arthritis, and ankylosing spondylitis. Further studies suggest potential use of NaF-PET in domains such as back pain, osteosarcoma, stress-related fracture, and bisphosphonate-induced osteonecrosis of the jaw. The critical role of NaF-PET in disease detection and characterization of many musculoskeletal disorders has been clearly demonstrated in the literature, and these methods will become more widespread in the future. The data from PET imaging are quantitative in nature, and as such, it adds a major dimension to assessing disease activity.     

Recurrence of primary hyperoxaluria after kidney transplantation

Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis, systemic oxalosis, and kidney failure. We present a young woman with end-stage renal disease who received a kidney allograft and experienced early graft failure presumed to be an acute rejection. There was no improvement in kidney function, and she was required hemodialysis. Ultimately, biopsy revealed birefringent calcium oxalate crystals, which raised suspicion of primary hyperoxaluria. Further evaluations including genetic study and metabolic assay confirmed the diagnosis of primary hyperoxaluria type 1. This suggests a screening method for ruling out primary hyperoxaluria in suspected cases, especially before planning for kidney transplantation in patients with end-stage renal disease who have nephrocalcinosis, calcium oxalate calculi, or a family history of primary hyperoxaluria.     

IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID

SCID disorder is major failure of the immune system, usually genetic. The aim of this study was on mutations detection of RAG1, RAG2, and IL7RG genes in SCID cases. Mutation detection was performed by PCR sequencing. Our results indicated that 13 mutations were found through cases which include 4 mutations in IL7R gene (T661I, I138V, T56A, C57W), 7 mutations in RAG1 (W896X, W204R, M324V, T731I, M1006V, K820R, and R249H), and 2 mutations in RAG2 gene (R229W, ΔT251).     

Photodynamic therapy of persistent pockets in maintenance patients—a clinical study

The aim of this study was to compare the short-term performance of a session of single photodynamic therapy (PDT) and of a conventional ultrasonic debridement (UST) in persistent pockets of maintenance patients. In a prospective, randomized, controlled, single-blind clinical study, patients with chronic periodontitis with at least two persistent pockets (>4 mm) were enrolled. They were treated either with UST (n = 29) or PDT (n = 25). Clinical and microbiological examinations were performed at baseline and after 3 month. For UST, the mean probing depth was reduced from 5.3 to 4.5 mm (p = <0.001) and for PDT from 5.3 to 4.7 mm (p < 0.001) with no difference between the two treatment modalities. Microbial counts were significantly reduced about 30% to 40% immediately after debridement but returned to baseline values at month 3 irrespective of treatment. PDT is not superior to conventional mechanical treatment of persistent pockets, but it may be a meaningful therapeutic alternative; the clinical effects were too minor to draw a definitive conclusion.     

Developing optimized fMRI protocol for clinical use: comparison of different language paradigms

Purpose:

To compare the potential of five functional magnetic resonance imaging (fMRI) language paradigms in activating language areas in Persian‐speaking volunteers in order to optimize these tasks for clinically useful protocol.

Materials and Methods:

16 healthy right‐handed Persian‐speaking volunteers were studied. Each individual performed five tasks during the fMRI scan: word generation (WG), object naming (ON), word reading (WR), word production (WP), and reverse word reading (RWR). The ability of each task to activate classical language areas was assessed using group analysis. In addition, the lateralization index (LI) for each subject‐task was calculated and compared.

Results:

We found that WP, RWR, and WG robustly activated language‐related areas in the dominant hemisphere. ON and WR failed to sufficiently delineate these activation areas. Highest activation intensities in the frontal lobe (including Broca's area) were seen with WP, whereas RWR showed the highest LI among all examined tasks.

Conclusion:

Our results demonstrated that the Persian version of WG and newly presented WP and RWR tasks can be reliably used for localization of language‐related areas in Persian speakers. This type of language evaluation may be used in presurgical planning of neurosurgical procedures in the Persian population. We recommend application of WP and RWR in future researches establishing the optimized protocol for other language speakers. J. Magn. Reson. Imaging 2011;. © 2011 Wiley‐Liss, Inc.     

Accumulation of mitochondrial genome variations in Persian LQTS patients: a possible risk factor?

BackgroundLong QT syndrome (LQTS) is among arrhythmia disorders of the heart that causes sudden cardiac death in young individuals. As yet, most of investigations have focused on nuclear genome for finding genetic defects in this disorder, but some of the cases with LQTS cannot be explained by mutations of identified genes. On the other hand, it has been reported that the activity of ion channels in cardiomyocytes is sensitive to ATP level. It prompted us to focus on the mitochondrial DNA and monitor the point mutations of genome which are probably the cause of respiratory chain defects and reduced ATP generation.MethodsWe searched about 55% of the mitochondrial DNA (mtDNA) by temporal temperature gradient gel electrophoresis (TTGE), and DNA fragments showing abnormal banding patterns were sequenced for identification of exact mutations.ResultsIn 39 patients (33 familial and 6 sporadic cases), for the first time, we detected 35 mtDNA mutations in which 8 were novel (23%) and 27 (77%) have been reported in other mitochondrial diseases. Our results showed that these mutations in LQTS patients were higher than those in normal controls (P<.0001), and the number of mutations in LQTS patients with syncope is higher than in patients without syncope (P<.001).ConclusionsAs the mitochondrion's ATP synthesis is important in heart, it is possible that mutations and their accumulation in mtDNA could constitute a predisposing factor that in combination with environmental factors may trigger the syncope in patients with LQTS.     

Investigation of tRNALys/Leu and ATPase 6/8 gene mutations in Iranian ataxia telangiectasia patients

Introduction

Ataxia telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease. AT is the result of mutations in the AT-mutated (ATM) gene. ATM protein is required for radiation-induced apoptosis and acts before mitochondrial collapse. The tRNA genes are considered one of the hot spots for mutations causing mitochondrial disorders. Due to the important role of ATM in apoptosis and its effect on the cell cycle it might be possible that it has a central role in mtDNA mutations. On the other hand, the tRNA^Lys/Leu gene and also ATPase6 and ATPase8 genes are important for many mitochondrial diseases and many causative mutations have been reported from these genes.

Material and methods

In the present research, we performed mutation screening for these genes in 20 patients who were diagnosed with ataxia telangiectasia by a PCR sequencing method.

Results

The results showed a significant level of mtDNA variations in AT patients. Among 20 patients in this study, 12 patients (60%) were detected with point mutations, among which 8 mutations (40%) belonged to the MT-ATP6 gene. There was probably a second effect of mtDNA mutations in AT disease and mtDNA plays a main role in establishment of AT.

Conclusions

MtDNA mutations might be responsible for the decline of mitochondrial function in AT patients. Mitochondrial investigation can help to understand the mechanism of damage in AT disease.     

Acute heart failure as an atypical presentation of Takayasu arteritis: The value of multi‐modality imaging

Takayasu arteritis (TA) is an inflammatory disease that affects the aorta and the major branch arteries. Here, we describe an atypical presentation of the disease with heart failure.     

Giant cell myocarditis following COVID‐19 successfully treated by immunosuppressive therapy

It has been shown that severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), by coronavirus disease 2019 (COVID‐19), can lead to multi‐organ impairment including cardiac involvement and immunological problems. Acute myocarditis is one of serious and fatal complications of COVID‐19. In this case report, we present a 46‐year‐old lady with a history of lichen planus dermatitis who has developed a rapidly progressive heart failure after an episode of COVID‐19. The pathologic examination of her endomyocardial biopsy specimens was compatible with GCM, and she was successfully treated with a combined immunosuppressive therapy regimen.     

Multimodality imaging in the diagnostic approach to a patient with carcinoid heart disease involving four heart valves

Carcinoid heart disease is a rare condition that occurs in less than half of patients with carcinoid syndrome. The disease mainly affects right‐sided heart valves; however, in 5%–10%, it can also involve left‐sided valves. This case illustrates the most complicated form of the disease involving four heart valves.