Showing 7 Abstracts.
3-year-old female with history of Aromatic l-amino acid decarboxylase (AADC) deficiency presented for direct intra-putaminal Dopa decarboxylase (DDC) gene therapy infusion. Pre-therapy 18F-DOPA PET brain study fused to MRI demonstrates absence of normal radiotracer uptake in the basal ganglia/putamen, consistent with history of AADC deficiency and inability to uptake and convert 18F-DOPA to 18F fluorodopamine. MRI Brain demonstrates normal appearance of the putamen. Intraoperative images from intra-putaminal DDC gene therapy infusion via a frame-based stereotactic approach. Following frame placement, 4 gene vectors delivered in a adeno-associated viral vector are infused to the putamen bilaterally. Intraoperative T2 Axial MRI confirms appropriate localization with increased signal seen in the anterior and posterior aspects of the putamen bilaterally. Post-therapy 18F-DOPA PET brain study, fused to MRI 10 weeks following intraputaminal infusions of the DDC genes coding for AADC, demonstrates development of robust 18F-DOPA uptake in the putamen, indicative of successful AADC production following gene therapy. AADC enzyme deficiency is a debilitating autosomal recessive disease due to a mutation in the Dopa decarboxylase gene (DDC). Subsequent dopamine deficiencies result in profound motor and autonomic dysfunction, developmental delay and early mortality. Mean age of diagnosis is 3.5 years, severe cases often die before age 7. While currently no cure, novel gene therapy treatments utilizing direct infusion of the DDC gene into the basal ganglia/putamen have shown promising clinical results. While anatomic imaging such as MRI are typically normal, 18F-DOPA PET scans measure the uptake of the tracer and its conversion to 18F-fluorodopamine, indicating appropriate DDC function in the basal ganglia dopaminergic nerve terminals. 18F-DOPA PET scans can be used to assess the efficacy of gene therapy by demonstrating the successful development of striatal uptake prior to improvement of clinical symptoms. Read More
Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024
Authors: Salman Rida, Sher Andrew
Keywords: 18F-DOPA PET, gene therapy, AADC
14-year-old female presents with two-day history of fever and cough. She also reports two months history of fatigue, shortness of breath, palpitations and night sweat. Physical exam was only remarkable for systolic ejection murmur and hypertension. Relevant diagnostic testing: Microcytic anemia. LDH, uric acid AFP and HCG were normal. Negative HIV, Quantiferon and fungal culture. Negative double stranded DNA. Normal chromogranin A. Elevated plasma and urine normetanephrine levels. Chest radiograph shows a well-defined right hilar mass with hilum overlay sign excluding the possibility of a middle mediastinal mass. CT chest with contrast demonstrates a necrotic right mediastinal mass. Gallium-68 Dotatate PET/CT shows avid radiotracer uptake in the right mediastinal mass compatible with biopsy-proven paraganglioma with no additional radiotracer-avid lesions elsewhere in the body. Hereditary paraganglioma/ pheochromocytoma panel analysis of a blood sample revealed a heterozygous pathogenic frameshift pathogenic variant in SDHC gene. Paragangliomas are extra-adrenal pheochromocytomas and can be isolated or associated with hereditary diseases such as von Hippel-Lindau and succinate dehydrogenase (SDH) mutations. These tumors account for 1% of pediatric secondary hypertension. Functional imaging, including 123I-MIBG, 111In-octreotide SPECT, 68Ga Dotatate and 18F-FDG PET, can be used to confirm the diagnosis, evaluate metastatic spread and conduct disease surveillance. Ga-68 [DOTA-0-Tyr-3] octreotate (DOTATATE), with high affinity for somatostatin receptors (SSTR2) which are expressed by neuroendocrine tumors, is able to localize the tumor by the presence of focal increased radiotracer uptake in areas that are not typical for normal distribution such as pituitary, thyroid, adrenals, liver, spleen, uncinate process of pancreas, kidneys, and bladder. Read More
Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024
Authors: Salman Rida, Sher Andrew
Keywords: Ga-68 DOTATATE, Paraganglioma
The purpose of this study is to share our experience implementing a clinical decision support (CDS) solution for imaging at a quaternary care pediatric academic hospital. Read More
Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020
Authors: Sher Andrew, Hayatghaibi Shireen, Sammer Marla
Keywords: decision support, pediatric, informatics
At our children’s hospital, we deployed clinical decision support (CDS) software to support appropriate use of imaging. The software is primarily based on ACR appropriateness criteria. To determine if by using CDS, lower rates of payer claim denials could be expected, we evaluated rates of payer claim denials based on CDS score prior to CDS go-live. Read More
Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020
Authors: Sher Andrew, Hayatghaibi Shireen, Kan J., Sammer Marla
Keywords: CT
To analyze the effect of point-of-care ACR-clinical decision support (CDS) software embedded in the electronic health records (EHR) on CT ordering patterns in a quaternary care pediatric emergency center (EC). Read More
Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020
Authors: Sher Andrew, Hayatghaibi Shireen, Kan J., Sammer Marla
Keywords: decision support, pediatric, informatics
In our pediatric radiology department, radiographs (XR) are the shared responsibility of body radiologists, expected to be read in addition to daily modality-based or site-specific assignments. Due to concerns that the increasing XR volume was unevenly shared amongst colleagues, a software intervention was developed to improve weekday 7am-5pm workload balance by auto-distributing exams at 10-minute intervals during peak hours to rotation worklists within PACS; a cap of 20 distributed exams to each target worklist was set. Metrics to evaluate the intervention’s effectiveness were assessed. Additionally, as there was concern that assigning exams may result in slower turnaround times (TATs) and increased errors, TATs and error rates were evaluated. Read More
Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020
Authors: Sammer Marla, Hayatghaibi Shireen, Nguyen Haithuy, Sher Andrew
Keywords: turnaround time, informatics, radiographs
While a definitive conclusion regarding the optimal diagnostic strategy for midgut volvulus remains elusive, value can also be derived from cost. The purpose is to quantify and compare the monetary and time costs, from a provider perspective of imaging with Upper GI (UGI) versus Ultrasound (US) of children with suspected midgut volvulus. Read More
Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020
Authors: Hayatghaibi Shireen, Sher Andrew, Varghese Varsha, Sammer Marla, Bales Brandy, Cano Melissa, Nguyen Haithuy