Papillary thyroid carcinoma (PTC) incidence increased after childhood exposure to radioactive fallout from the Chornobyl accident. We investigated PTC genomic profiles to distinguish radiation-induced versus sporadic oncogenic drivers by modeling dose and molecular characteristics by driver category: ( = 132), RAS mutation ( = 31), fusions generated from two breakpoints and <20 base pairs (bp) breakpoint gain/loss (Fusion; = 63), or ≥3 breakpoints and ≥1000 bp breakpoint loss ( = 20). The frequency of Fusion-PTC increased with increasing thyroid radiation dose, whereas all others declined.
View Article and Find Full Text PDFJ Clin Transl Sci
June 2025
Multicenter clinical trials are essential for evaluating interventions but often face significant challenges in study design, site coordination, participant recruitment, and regulatory compliance. To address these issues, the National Institutes of Health's National Center for Advancing Translational Sciences established the Trial Innovation Network (TIN). The TIN offers a scientific consultation process, providing access to clinical trial and disease experts who provide input and recommendations throughout the trial's duration, at no cost to investigators.
View Article and Find Full Text PDFBurkitt lymphoma (BL) is a B-cell malignancy that disproportionately affects children in sub-Saharan Africa. We performed a genome-wide association study (GWAS) in a combined set of 800 childhood cases and 3865 controls in East Africa, controlling for age, sex, country, population-specific principal components, and a genetic relationship matrix. This analysis identified a BL-protective region within chromosome 21q22.
View Article and Find Full Text PDFBackground: The Infinity Total Ankle System is the total ankle replacement (TAR) with market leading share in the United Kingdom and has been implanted in patients since 2014. We report the longest prospective series of Infinity TAR, with mean 8-year survivorship data from 2 nondesigner centers in the United Kingdom. This is a dual-center, prospective, observational study.
View Article and Find Full Text PDFBackground: Amid mounting pressure to reduce health care spending, strategies for identifying and eliminating unwarranted variation in costs have garnered significant attention. Previous studies have characterized intersurgeon variation in costs for common orthopaedic procedures, but such variation remains unexplored in the context of hip arthroscopic surgery.
Purpose: To (1) characterize variation in the cost of hip arthroscopic surgery between surgeons using time-driven activity-based costing (TDABC) and (2) identify patient characteristics, intraoperative findings, and operative procedures underlying such intersurgeon variation in costs.
Background: Bone marrow aspirate concentrate (BMAC) augmentation at the time of hip arthroscopy is a potential solution to improve functional outcomes in patients with cartilage damage concomitant with acetabular labral tearing; however, follow-up functional scores to date have not exceeded 24 months. Therefore, the present study compares minimum 5-year outcomes in patients treated with or without BMAC augmentation to address chondral damage during arthroscopic labral repair.
Methods: This was a prospective cohort study analyzing patients who underwent acetabular labral repair performed by a single surgeon.
Background: Reduced absolute joint space width (JSW) has been shown to correlate with higher rates of total hip arthroplasty (THA) after hip arthroscopy.
Purpose: To determine if quantitative differences in JSW between the operative and contralateral hips at the time of hip arthroscopy affect the risk of conversion to THA.
Study Design: Case-control study; Level of evidence, 3.
Human papillomavirus type 45 (HPV45) causes ~6% of all cervical cancers and an even greater proportion of adenocarcinomas, the latter of which are challenging to detect using current cervical cancer screening. Little is known about how HPV45 genetic variation is related to the risk of cervical precancer/cancer. To investigate this, we whole-genome sequenced a total of 1,083 HPV45-positive samples from two large studies.
View Article and Find Full Text PDFArthrosc Sports Med Rehabil
April 2025
Purpose: To characterize variation in the value of hip arthroscopy for femoroacetabular impingement and explore associations between value and patient-specific demographic characteristics, comorbidities, preoperative patient-reported outcome measures (PROMs), and intraoperative variables.
Methods: We included all patients aged 18 years or older who underwent primary arthroscopic acetabular labral repair or debridement between 2015 and 2020 with minimum 2-year follow-up. The exclusion criteria were hip dysplasia, advanced hip osteoarthritis (TÖnnis grade >1), or unreconcilable documenting errors.
For the detection of somatic structural variation (SV) in cancer genomes, long-read sequencing is advantageous over short-read sequencing with respect to mappability and variant phasing. However, most current long-read SV detection methods are not developed for the analysis of tumor genomes characterized by complex rearrangements and heterogeneity. Here, we present Severus, a breakpoint graph-based algorithm for somatic SV calling from long-read cancer sequencing.
View Article and Find Full Text PDFArthrosc Sports Med Rehabil
February 2025
Purpose: To investigate whether os acetabuli identified preoperatively influence functional outcomes 2 years after an arthroscopic acetabular labral reconstruction.
Methods: Retrospective study with prospectively collected data of patients undergoing primary hip arthroscopy by a single, fellowship-trained surgeon at a single institution were retrospectively reviewed. Inclusion criteria included age ≥18 years and completion of patient-reported outcome measures (PROMs) preoperatively and at 3-month, 6-month, 12-month, and last follow-up timepoints.
Background: Although previous literature has established the association between femoroacetabular impingement and progressive hip osteoarthritis, there exists a paucity of studies investigating the effects of global acetabular overcoverage on chondral wear and long-term outcomes.
Purpose: To compare baseline joint space width (JSW), intraoperative findings, long-term total hip arthroplasty (THA)-free survivorship, patient-reported outcome measures (PROMs), pain levels, and patient satisfaction in patients who underwent hip arthroscopy with global overcoverage (GO) to a matched-control (MC) cohort.
Study Design: Cohort study; Level of evidence, 3.
Cell Mol Biol (Noisy-le-grand)
January 2025
ABCG2 transporter protein is one of several markers of prostate cancer stem cells (PCSCs). Gene variants of ABCG2 could affect protein expression, function, or both. The aim of this study was to identify the genetic variability of the ABCG2 gene in Mexican patients with prostate cancer.
View Article and Find Full Text PDFTo better understand cervical cancer progression, we analyzed RNA from 262 biopsies from women referred for colposcopy. We determined the HPV type and analyzed the expression of 51 genes. HPV31 was significantly more prevalent in precancer than stage 1 cancer and invasive cancer (p < 0.
View Article and Find Full Text PDFBackground: Physical therapy remains a ubiquitous treatment modality for the management of frozen shoulder (adhesive capsulitis) despite limited high-level evidence supporting its use. Leveraging patient-reported outcome measures (PROMs) and healthcare costs, this study compared patient outcomes and value achieved through watchful waiting (WW) vs. physical therapy (PT) for conservative management of frozen shoulder.
View Article and Find Full Text PDFJ Exp Orthop
October 2024
Purpose: The purpose of this article is to explore the potential of digital twin technologies in orthopaedics and to evaluate how their integration with artificial intelligence (AI) and deep learning (DL) can improve orthopaedic evaluation and treatment. This review addresses key applications of digital twins, including surgical planning, patient-specific outcome prediction, augmented reality-assisted surgery and simulation-based surgical training.
Methods: Existing studies on digital twins in various domains, including engineering, biomedical and orthopaedics are reviewed.
Purpose: To evaluate the available literature on the relationship between knee bony morphology and medial meniscus posterior root tears (MMPRTs) to determine which tibiofemoral morphologic risk factors may predispose the development of MMPRTs.
Methods: Embase, MEDLINE, and PubMed databases were searched to identify all relevant human clinical studies investigating knee morphologic features and MMPRTs. Shape features were compared between control groups and patients with MMPRTs.
Invasive cervical cancers (ICC), caused by HPV infections, have a heterogeneous molecular landscape. We investigate the detection, timing, and HPV type specificity of somatic mutations in 3929 HPV-positive exfoliated cervical cell samples from individuals undergoing cervical screening in the U.S.
View Article and Find Full Text PDFPurpose: Sepsis causes significant worldwide morbidity and mortality. Inability to clear an infection and secondary infections are known complications in severe sepsis and likely result in worsened outcomes. We sought to characterize risk factors of these complications.
View Article and Find Full Text PDFThe emergence of targeted therapies has transformed ovarian cancer treatment. However, biomarker profiling for precision medicine is limited by access to quality, tumour-enriched tissue samples. The use of cell-free DNA (cfDNA) in ascites presents a potential solution to this challenge.
View Article and Find Full Text PDFBackground: The indications for hip arthroscopy in patients aged ≥40 years remain controversial, as observational studies have suggested that advanced age portends poor functional outcomes, poor durability of improvement, and high rates of conversion to total hip arthroplasty.
Purpose: To compare hip arthroscopy versus nonoperative management for symptomatic labral tears in patients aged ≥40 years with limited radiographic osteoarthritis.
Study Design: Randomized controlled trial; Level of evidence, 1.
Introduction: Low-cost, accurate high-risk HPV tests are needed for cervical cancer screening in limited-resource settings.
Objective: To compare the performance of the low-cost Hybribio-H13 test with the Hybrid Capture® 2 to detect cervical intraepithelial neoplasia grade 2 or 3 (CIN2 and CIN3).
Materials And Methods: Archived baseline samples tested by the Hybrid Capture® 2 from women of the ASCUS-COL trial, aged 20 to 69 years, with biopsy-colposcopy directed diagnosis of CIN2+ (n = 143), CIN3+ (n = 51), and < CIN2 (n = 632) were blindly tested by the Hybribio-H13 test.