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Corrigendum to “Exploratory analysis of medication adherence and social determinants of health among older adults with diabetes” [Exploratory Research in Clinical and Social Pharmacy, Volume 12, December 2023, 100371]
(Elsevier, 2024-09-03) Blakely, Michelle L.; Sherbeny, Fatimah; Hastings, Tessa J.; Boyd, LaKeisha; Adeoye-Olatunde, Omolola A.; Biostatistics and Health Data Science, Richard M. Fairbanks School of Public Health
[This corrects the article DOI: 10.1016/j.rcsop.2023.100371.].
Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells
(Wiley, 2025) Wang, Hui; Chang, Timothy S.; Dombroski, Beth A.; Cheng, Po-Liang; Si, Ya-Qin; Tucci, Albert; Patil, Vishakha; Valiente-Banuet, Leopoldo; Li, Chong; Farrell, Kurt; Mclean, Catriona; Molina-Porcel, Laura; Rajput, Alex; De Deyn, Peter Paul; Le Bastard, Nathalie; Gearing, Marla; Donker Kaat, Laura; Van Swieten, John C.; Dopper, Elise; Ghetti, Bernardino F.; Newell, Kathy L.; Troakes, Claire; de Yébenes, Justo G.; Rábano-Gutierrez, Alberto; Meller, Tina; Oertel, Wolfgang H.; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Roeber, Sigrun; Müller, Ulrich; Hopfner, Franziska; Pastor, Pau; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle; Beach, Thomas G.; Serrano, Geidy E.; Hazrati, Lili-Naz; Litvan, Irene; Rademakers, Rosa; Ross, Owen A.; Galasko, Douglas; Boxer, Adam L.; Miller, Bruce L.; Seeley, Willian W.; Van Deerlin, Vivianna M.; Lee, Edward B.; White, Charles L., III; Morris, Huw R.; de Silva, Rohan; Crary, John F.; Goate, Alison M.; Friedman, Jeffrey S.; Compta, Yaroslau; Leung, Yuk Yee; Coppola, Giovanni; Naj, Adam C.; Wang, Li-San; PSP Genetics Study Group; Dalgard, Clifton; Dickson, Dennis W.; Höglinger, Günter U.; Tzeng, Jung-Ying; Geschwind, Daniel H.; Schellenberg, Gerard D.; Lee, Wan-Ping; Pathology and Laboratory Medicine, School of Medicine
Background: The 17q21.31 region with various structural forms characterized by the H1/H2 haplotypes and three large copy number variations (CNVs) represents the strongest risk locus in progressive supranuclear palsy (PSP).
Objective: To investigate the association between CNVs and structural forms on 17q.21.31 with the risk of PSP.
Methods: Utilizing whole genome sequencing data from 1684 PSP cases and 2392 controls, the three large CNVs (α, β, and γ) and structural forms within 17q21.31 were identified and analyzed for their association with PSP.
Results: We found that the copy number of γ was associated with increased PSP risk (odds ratio [OR] = 1.10, P = 0.0018). From H1β1γ1 (OR = 1.21) and H1β2γ1 (OR = 1.24) to H1β1γ4 (OR = 1.57), structural forms of H1 with additional copies of γ displayed a higher risk for PSP. The frequency of the risk sub-haplotype H1c rises from 1% in individuals with two γ copies to 88% in those with eight copies. Additionally, γ duplication up-regulates expression of ARL17B, LRRC37A/LRRC37A2, and NSFP1, while down-regulating KANSL1. Single-nucleus RNA-seq of the dorsolateral prefrontal cortex analysis reveals γ duplication primarily up-regulates LRRC37A/LRRC37A2 in neuronal cells.
Conclusions: The copy number of γ is associated with the risk of PSP after adjusting for H1/H2, indicating that the complex structure at 17q21.31 is an important consideration when evaluating the genetic risk of PSP.
Epithelioid Inflammatory Myofibroblastic Sarcoma: Case Series With a First Report of CLTC::ALK Fusion in an Aggressive Disease
(Wiley, 2025) Maharjan, Daisy; Dehner, Carina; Alani, Ali; Bell, Robert; Segura, Sheila; Pathology and Laboratory Medicine, School of Medicine
Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is a rare and clinically aggressive variant of inflammatory myofibroblastic tumor (IMT). It typically presents in children and young adults, often affecting the abdominal cavity. It is characterized by the presence of plump, polyhedral, and epithelioid cells, and a distinctive nuclear or perinuclear ALK staining on immunohistochemistry. Various ALK fusion partners have been identified in EIMS, including RANBP2, RRBP1, EML4, and VCL. In this report, we present four cases of EIMS involving the abdominal cavity, including the first case with a CLTC::ALK fusion, which has previously been associated only with nonaggressive IMT.
Phosphaturia in HIV-Exposed Uninfected Neonates Associated with Maternal Use of Tenofovir Disoproxil Fumarate in Late Pregnancy
(Oxford University Press, 2024) Purswani, Murli U.; Jacobson, Denise L.; DiMeglio, Linda A.; Yao, Tzy-Jyun; Kopp, Jeffrey B.; Van Dyke, Russell B.; Yu, Wendy; Siberry, George K.; Pediatric HIV/AIDS Cohort Study (PHACS); Pediatrics, School of Medicine
Background: Tenofovir disoproxil fumarate (TDF) is often used in treating pregnant women living with HIV. Third-trimester TDF exposure is associated with a 12% reduction in bone mineral content in HIV-exposed uninfected (HEU) neonates. The potential mechanisms underlying this observation are unknown.
Methods: The TDF study enrolled newborns of gestational age ≥36 weeks from the Surveillance Monitoring for Antiretroviral Therapy and Toxicities study based on in utero TDF exposure (TDF use ≥8 weeks in the third trimester vs none). Blood and urine samples were collected cross-sectionally within 30 days of birth to assess renal function (serum creatinine, serum phosphate, eGFR, percent tubular reabsorption of phosphate [PTRP]), and bone turnover (serum parathyroid hormone, 25-OH vitamin D [25(OH)D], and urinary cross-linked N-telopeptide of type 1 collagen). For each biomarker, a LOESS plot was fit using values at age at specimen collection; regression lines over age were fit among samples collected from 4 to 30 days, to compare slopes by TDF exposure.
Results: Among 141 neonates, 77 were TDF-exposed and 64 TDF-unexposed. Between age 4 and 30 days, PTRP decreased more rapidly in the TDF-exposed compared to the unexposed group with slopes of -0.58 vs -0.08/day (difference -0.50/day [95% CI -0.88, -0.11]). Slopes for 25(OH)D were similar in both groups, but serum levels were lower in TDF-exposed neonates (median [IQR]: 22 [19, 29] vs 26 [22, 37] ng/mL). No differences were observed for other biomarkers.
Conclusions: Third-trimester in utero exposure to TDF is associated with increased urinary loss of phosphate and lower serum concentrations of 25(OH)D in HEU neonates.
Validation and next-generation update of a DNA methylation-based recurrence predictor for meningioma: A multicenter prospective study
(Oxford University Press, 2025) Landry, Alexander P.; Wang, Justin Z.; Patil, Vikas; Gui, Chloe; Mamatjan, Yasin; Patel, Zeel; Yakubov, Rebecca; Kaloti, Ramneet; Habibi, Parnian; Wilson, Mark; Ajisebutu, Andrew; Ellenbogen, Yosef; Wei, Qingxia; Singh, Olivia; Sosa, Julio; Mansouri, Sheila; Wilson, Christopher; Cohen-Gadol, Aaron A.; Virtanen, Piiamaria; Burket, Noah; Blackwell, Matthew; Koenig, Jenna; Alfonso, Anthony; Davis, Joseph; Zaazoue, Mohamed A.; Tabatabai, Ghazaleh; Tatagiba, Marcos; Behling, Felix; Barnholtz-Sloan, Jill S.; Sloan, Andrew E.; Chotai, Silky; Chambless, Lola B.; Mansouri, Alireza; Ehret, Felix; Capper, David; Tsang, Derek S.; Aldape, Kenneth; Gao, Andrew; International Consortium on Meningiomas (ICOM); Nassiri, Farshad; Zadeh, Gelareh; Neurological Surgery, School of Medicine
Background: We previously developed a DNA methylation-based risk predictor for meningioma, which has been used locally in a prospective fashion since its original publication. As a follow-up, we validate this model using a large prospective cohort and introduce a streamlined next-generation predictor compatible with newer methylation arrays.
Methods: Genome-wide methylation profiles were generated with the Illumina EPICArray. The performance of our next-generation predictor was compared with our original model and standard-of-care 2021 WHO grade using time-dependent receiver operating characteristic curves. An nomogram was generated by incorporating our methylation predictor with WHO grade and the extent of resection.
Results: A total of 1347 meningioma cases were utilized in the study, including 469 prospective cases from 3 institutions and an external cohort of 100 WHO grade 2 cases for model validation. Both the original and next-generation models significantly outperform the 2021 WHO grade in predicting early postoperative recurrence. Dichotomizing patients into grade-specific risk subgroups was predictive of outcomes within both WHO grades 1 and 2 tumors (P < .05), whereas all WHO grade 3 tumors were considered high-risk. Multivariable Cox regression demonstrated the benefit of adjuvant radiotherapy (RT) in high-risk cases specifically, reinforcing its informative role in clinical decision-making. Finally, our next-generation predictor contains nearly 10-fold fewer features than the original model, allowing for targeted arrays.
Conclusions: This next-generation DNA methylation-based meningioma outcome predictor significantly outperforms the 2021 WHO grading in predicting time to recurrence. We make this available as a point-and-click tool that will improve prognostication, inform patient selection for RT, and allow for molecularly stratified clinical trials.