Positron emission tomography (PET) has become a powerful tool in Alzheimer’s disease (AD) research by enabling in vivo visualization of pathological biomarkers. Recent efforts have aimed to integrate PET-derived imaging phenotypes with genome-wide association studies (GWASs) to better elucidate the genetic architecture underlying AD. This systematic review examines studies that leverage PET imaging in the context of GWASs (PET-GWASs) to identify genetic variants associated with disease risk, progression, and brain region-specific pathology. A comprehensive search of PubMed and Embase databases was performed on 18 February 2025, yielding 210 articles, of which 10 met pre-defined inclusion criteria and were included in the final synthesis. Studies were eligible if they included AD populations, employed PET imaging alongside GWASs, and reported original full-text findings in English. No formal protocol was registered, and the risk of bias was not independently assessed. The included studies consistently identified APOE as the strongest genetic determinant of amyloid burden, while revealing additional significant loci including ABCA7 (involved in lipid metabolism and amyloid clearance), FERMT2 (cell adhesion), CR1 (immune response), TOMM40 (mitochondrial function), and FGL2 (protective against amyloid deposition in Korean populations). The included studies suggest that PET-GWAS approaches can uncover genetic loci involved in processes such as lipid metabolism, immune response, and synaptic regulation. Despite limitations including modest cohort sizes and methodological variability, this integrated approach offers valuable insight into the biological pathways driving AD pathology. Expanding PET-genomic datasets, improving study power, and applying advanced computational tools may further clarify genetic mechanisms and contribute to precision medicine efforts in AD.

Background: This study investigated risk factors for progression of deformity in pediatric congenital cervical scoliosis (CCS) and evaluated the correlation between congenital cervical curves and compensatory thoracic and lumbar curves. Methods: Medical records were retrospectively reviewed for 38 pediatric patients with CCS with a minimum 2-year follow-up. Curve progression was defined as >10° increase in cervical coronal curve angle between presentation and last follow-up. Results: A total of 38 patients (16 girls, 22 boys) with a mean age at presentation of 5.6 ± 4.1 years met the inclusion criteria. Sixteen patients (42%) had curve progression with a mean follow-up of 3.1 ± 3.0 years. At presentation, T1 slope was significantly larger among children with progressive deformities (p = 0.041). A total of 18 of the 38 patients with strictly cervical spine deformity were then selected for subanalysis to evaluate the progression of compensatory curves. Cervical major coronal curves were found to significantly correlate with lumbar major coronal curves (r = 0.409), C2 central sacral vertical line (CSVL) (r = 0.407), and C7-CSVL (r = 0.403) (p < 0.05). Thoracic major coronal curves did not significantly correlate with cervical major coronal curves (r = 0.218) (p > 0.05). Conclusion: In conclusion, 42% of osseous CCS curves progressed over time in the overall cohort, and high initial T1 slope was found to be most highly correlated with progression of cervical deformity. Cervical major coronal curves significantly correlated with lumbar curve magnitude but not with thoracic curve size in isolated CCS, possibly due to the increased flexibility of the lumbar spine which may allow greater compensatory balance and thus have a greater correlation with cervical curve magnitude and possibly progression.

A quantification technique for costal cartilage calcification using ¹⁸F-sodium fluoride–positron emission tomography/computed tomography (¹⁸F-NaF-PET/CT) has yet to be established, and the effects of aging and other demographic variables on costal cartilage calcification remain understudied. This study aims to introduce a quantification methodology for assessing costal cartilage calcification using ¹⁸F-NaF-PET/CT, assess age-related changes in its ¹⁸F-NaF uptake in females and males, and examine the relationship between its ¹⁸F-NaF uptake and CT attenuation as well as ¹⁸F-NaF uptake and coronary artery calcification. In this retrospective study, we analyzed subjects from the Cardiovascular Molecular Calcification Assessed by ¹⁸F-NaF PET/CT (CAMONA) clinical trial. This study evaluated 130 subjects (mean age 48.7 ± 14.5 years; n = 67 females). We manually generated regions of interest overlying the costal cartilages from ribs 8 to 10 on the left side, carefully avoiding osseous uptake from adjacent ribs and sternum, to measure cartilaginous ¹⁸F-NaF uptake. Non-parametric statistical analyses (Spearman correlations, Mann–Whitney U tests, Kruskal–Wallis tests) and receiver operating characteristic analysis were performed to evaluate sex-specific age-related changes in uptake, correlations between imaging parameters, and associations with coronary artery calcium (CAC) score. In females, the mean ¹⁸F-NaF uptake (as assessed by average SUV_mean) was 0.69 ± 0.38 while the corresponding mean Hounsfield Unit (HU) was 108.0 ± 40.0. In males, the mean ¹⁸F-NaF uptake (as assessed by average SUV_mean) was 0.63 ± 0.22, and the mean HU was 104.0 ± 24.0. There was a significant correlation between ¹⁸F-NaF uptake and age in both females (p = 0.003, r = 0.36) and males (p < 0.0001, r = 0.63). The correlation was significantly stronger in males than females (Fisher’s z-test, p = 0.040). There was a significant correlation between CAC score and costal cartilage SUV_mean in both females (r = 0.26, p = 0.036) and males (r = 0.51, p < 0.0001). This study introduces a quantification technique to assess costal cartilage calcification using ¹⁸F-NaF-PET/CT and demonstrates that the calcification increases with age, more strongly in males than in females, and ¹⁸F-NaF uptake is correlated with CAC score. This technique can be applied to other cartilages of interest, in both physiological and pathological conditions, to assess the effects of aging and various demographic variables on cartilage calcification.

Citation: Rahman SM, Ahmed F, Amanullah A, Haque A. Impact of UV Modifying Factors on the Incidence of Keratinocyte Carcinomas in Solid Organ Transplant Recipients: A Systematic Review. Dermatol Pract Concept. 2023;13(3):e2023065. DOI: https://doi.org/10.5826/dpc.1303a65 Accepted: January 11, 2023; Published: July 2023 Copyright: ©2023 Rahman et al. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (BY-NC-4.0), https://creativecommons.org/licenses/by-nc/4.0/, which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original authors and source are credited. Funding: None. Competing interests: None. Authorship: All authors have contributed significantly to this publication. Corresponding author: Syed Minhaj Rahman, BA, Department of Dermatology, University of Rochester School of Medicine and Dentistry, 1188 Mount Hope Ave, Apt 503 Rochester, NY 14620 Telephone: (718)-598-4637 Email: minhaj_rahman@urmc.rochester.edu Introduction: Solid organ transplant recipients (SOTR) are at an increased risk for developing keratinocyte carcinomas (KC). Four ultraviolet (UV) modifying factors have been identified that impact the incidence of KC: Fitzpatrick Skin Type (FST), race, sun exposure, and sun-protective factors. Objectives: We conducted a systematic review to summarize the association between UV modifying factors and the incidence of KC in SOTR. Methods: We systematically searched PubMed, Scopus, and Web of Science databases, and after screening for inclusion and exclusion criteria, we included 13 studies with 6,910 solid organ transplant recipients in our analysis. Results: Our review found that lower FST (I-II), white and Latinx populations, lack of regulated sunscreen application, and occupational and residential sun exposure are individual risk factors among solid organ transplant recipients for KC incidence. Although previous studies showed an increased SCC:BCC ratio, some studies found a contradictory increased BCC:SCC ratio. Limitations include few research studies that analyze these UV modifying factors and a lack of incorporating both varying immunosuppressant factors and transplantation follow-up times. Conclusions: These findings support the need for dermatological advice in increased risk patient demographic populations, lower FST and white and Latinx populations, and subsequently moderating sun exposure and protective factors. Keywords : keratinocyte, organ transplant recipient, ultraviolet radiation, Fitzpatrick Skin Type, Sun exposure This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.