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1.
Cureus ; 16(6): e63105, 2024 Jun.
Article in English | MEDLINE | ID: mdl-39055460

ABSTRACT

Prostate-specific membrane antigen (PSMA) imaging has become a mainstay diagnostic tool in staging unfavorable primary prostate cancer (PC) and identifying sites of recurrence in previously treated PC. One of the biggest pitfalls of PSMA imaging is rapid radionucleotide excretion in the urine via the​ kidneys, ureters, and bladder.​ The positron-emission tomography (PET) images obtained show increased radiotracer activity in these structures, which can occlude or even mimic true malignant disease. We describe the diagnostic challenges encountered in differentiating benign versus malignant disease with PSMA scans. A 78-year-old male presented ​to our outpatient radiation oncology office ​with high-risk prostate cancer. His medical history was significant for ulcerative colitis (UC). Magnetic resonance imaging (MRI) revealed an enlarged prostate and a Prostate Imaging Reporting and Data System (PI-RADS) class 4 lesion. A subsequent transperineal biopsy confirmed unilateral Gleason 8 adenocarcinoma. A PSMA PET scan was read as increased uptake in the right prostate and a left external iliac node. The patient, having been initially informed of a positive lymph node metastasis, sought a second opinion,​resulting in​​ ​a CT urogram that revealed physiologic ureteral uptake. We were thus able to avoid lymph node radiation and morbidity to the surrounding bowel, already chronically inflamed with ulcerative colitis. This study ​demonstrates the ​potential for misinterpretation of PSMA uptake in the ureter as lymph node metastases. We discuss how peri-uretic activity can hinder accurate visualization of pelvic lymph node metastases. This study highlights the need for careful image interpretation of PSMA uptake patterns in order to avoid diagnostic errors and unnecessary radiation to ​at-risk​​ ​organs in prostate cancer management.

2.
Neurology ; 95(6): e685-e696, 2020 08 11.
Article in English | MEDLINE | ID: mdl-32540937

ABSTRACT

OBJECTIVE: To test the relationship between clinically relevant types of GBA mutations (none, risk variants, mild mutations, severe mutations) and ß-glucocerebrosidase activity in patients with Parkinson disease (PD) in cross-sectional and longitudinal case-control studies. METHODS: A total of 481 participants from the Harvard Biomarkers Study (HBS) and the NIH Parkinson's Disease Biomarkers Program (PDBP) were analyzed, including 47 patients with PD carrying GBA variants (GBA-PD), 247 without a GBA variant (idiopathic PD), and 187 healthy controls. Longitudinal analysis comprised 195 participants with 548 longitudinal measurements over a median follow-up period of 2.0 years (interquartile range, 1-2 years). RESULTS: ß-Glucocerebrosidase activity was low in blood of patients with GBA-PD compared to healthy controls and patients with idiopathic PD, respectively, in HBS (p < 0.001) and PDBP (p < 0.05) in multivariate analyses adjusting for age, sex, blood storage time, and batch. Enzyme activity in patients with idiopathic PD was unchanged. Innovative enzymatic quantitative trait locus (xQTL) analysis revealed a negative linear association between residual ß-glucocerebrosidase activity and mutation type with p < 0.0001. For each increment in the severity of mutation type, a reduction of mean ß-glucocerebrosidase activity by 0.85 µmol/L/h (95% confidence interval, -1.17, -0.54) was predicted. In a first longitudinal analysis, increasing mutation severity types were prospectively associated with steeper declines in ß-glucocerebrosidase activity during a median 2 years of follow-up (p = 0.02). CONCLUSIONS: Residual activity of the ß-glucocerebrosidase enzyme measured in blood inversely correlates with clinical severity types of GBA mutations in PD. ß-Glucocerebrosidase activity is a quantitative endophenotype that can be monitored noninvasively and targeted therapeutically.


Subject(s)
Glucosylceramidase/genetics , Mutation , Parkinson Disease/genetics , Aged , Aged, 80 and over , Cognition Disorders/etiology , Cross-Sectional Studies , Female , Follow-Up Studies , Genetic Association Studies , Glucosylceramidase/blood , Humans , Male , Middle Aged , Neurologic Examination , Parkinson Disease/enzymology , Parkinson Disease/physiopathology , Parkinson Disease/psychology , Quantitative Trait Loci , Severity of Illness Index
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