Citations

OBJECTIVE The purpose of this study was to determine risk factors for distal junctional failure (DJF) following three-column osteotomy (3CO) for the correction of cervical deformity. METHODS A retrospective review was performed of patients who underwent a cervical or upper thoracic 3CO for cervical deformity correction by the senior author from 2008 to 2023. The main outcome of interest was DJF, defined as revision surgery with extension of the distal end of the fusion construct. Patients were excluded if the lowest instrumented vertebra (LIV) was the sacrum/pelvis, and if patients had prior autofusion throughout the distal part of the spine to the sacrum (e.g., ankylosing spondylitis). The minimum follow-up duration was 1 year. RESULTS One hundred fourteen patients were identified who underwent a cervical or upper thoracic 3CO for cervical deformity correction, 41 of whom met inclusion criteria for this study. The median patient age was 66 years, median BMI was 27, and 61% were male. Ten patients (24%) experienced DJF, requiring reoperation and distal extension of the construct to the pelvis in 9 cases and to L1 in 1 case. On univariable analysis, patients who experienced DJF compared with those who did not were more likely to be female (80% vs 35%, p = 0.007), had lower LIV Hounsfield units (HUs; 127 vs 167, p = 0.041), were less likely to have an LIV in a small autofused segment (10% vs 45%, p = 0.02), had an LIV that was closer to the first lordotic level (one level above vs three, p = 0.043), and had a longer length of fusion (17 vs 13 levels, p = 0.033). A stepwise multivariable regression model showed that having an LIV closer to the first lordotic vertebra was the only statistically significant predictor of DJF (OR 0.49, p = 0.013) and low LIV HUs did not reach statistical significance (OR 0.97, p = 0.09). CONCLUSIONS Patients with cervical deformity undergoing a 3CO are at higher risk for DJF with constructs terminating near the first lordotic vertebra. While LIV selection is complex and patient specific, choosing an LIV at least two levels above the first lordotic vertebra may help prevent DJF.

Abstract Background: Intra-articular corticosteroid injections (ICSI) have been shown to be an effective symptomatic non-operative treatment for hip osteoarthritis (OA) and other joint-related pain. There has been recent dispute over the true risk of complications from ICSI specifically when injected into the hip. Avascular necrosis (AVN) of the femoral head has been reported to occur in up to 30.5% of patients after undergoing hip ICSI, and up to 50.6% of patients experiencing osteoarthritis progression in as little as 3 months following injection. Purpose: To analyze the current protocol of hip ICSIs performed by two fellowship-trained non-operative sports medicine physicians and assess the rate of femoral head avascular necrosis. We hypothesized that the rate of AVN will be less than what has been recently reported in the literature. Study Design: Retrospective chart review Methods: Patients that underwent at least one intra-articular corticosteroid hip injection by two fellowship trained non-operative sports medicine physicians at this institution were identified using an institutional database. Exclusion criteria included injections with contrast dye used for imaging, injections that administered orthobiologics to the intra-articular, and non-intra-articular injections. Procedure notes were reviewed for anesthetic and steroid type, dosage, and needle size. Each chart was screened for demographic information, post-injection infections, AVN diagnosis, and subsequent hip replacement. 10 patients were identified with an AVN diagnosis. Their MRNs were sent to a board-certified radiologist at the same medical institution. The radiologist was blinded to the patient’s chart and instructed to identify the first radiograph with evidence of AVN. Patients were excluded if the reviewer did not agree with the diagnosis as it appeared in the medical chart or the AVN developed post-traumatically. Results: 449 patients, 530 hips, underwent 1.8 ± 1.4 ICSIs and 16.3% underwent THA at an average of 2.2 ± 2.3 years following their first injection. Of the 530 hips that underwent ICSI, only 1 hip demonstrated findings of AVN on radiographs following the first injection, and this patient had been taking oral prednisone for over 20 years. Conclusions: Intra-articular corticosteroid injections are a relatively safe symptomatic treatment option for hip pain secondary to both OA and non-OA pathology to be considered when other non-operative treatment options have failed. While the use of steroids comes with an inherent risk of osteonecrosis and cartilage damage, these results demonstrate that, when performed properly with ultrasound guidance and sterile technique, the risk of femoral head avascular necrosis is minimal.

Abstract Introduction: Periacetabular osteotomy (PAO) is a complex procedure historically requiring inpatient stay. There is increased emphasis for these to be performed on an outpatient basis by insurance companies. The purpose of this study was to investigate the proportion of various surgical listing classifications (outpatient, outpatient-overnight, inpatient), the incidence of subsequent denial/request for additional documentation for approval of inpatient stay, and to characterize the average length of stay (LOS) following PAO. Methods: A retrospective chart review was performed to identify all PAOs, performed by four participating surgeons, at a single academic institution over a two-year period. The initial listing status as an outpatient-overnight or inpatient procedure was identified. Whether a preoperative peer review was required for approval of inpatient listings as well as if additional documentation was necessary to convert outpatient-overnight listings to inpatient stays were also recorded. Results: A total of 140 PAOs amongst 117 patients were performed with 25 (17.9%) initially listed as an inpatient stay and 115 (82.1%) listed as outpatient-overnight. Of the 25 PAOs listed as inpatient, 2 (8.0%) required a preoperative peer review process to justify or clarify listing status. The average LOS was 1.9 ± 1.4 days with 55.7% (78/140) of PAOs staying two or more nights in the hospital. Only 6 PAOs (4.3%) went home the same day as surgery. Of the 115 PAOs listed as an outpatient-overnight, 53 (46.1%) converted to an inpatient stay. Conclusion: Over half of PAOs performed required inpatient stay beyond outpatient-overnight status. Preoperative peer-to-peer review for inpatient stay approval was modestly frequent (8% of inpatient listings), and all conversions to inpatient required additional service documentation to support status conversion. Understanding trends in postoperative hospitalizations and LOS might allow for better informed partnerships between surgeons and insurance companies creating more efficient pre-authorizations, billing practices, and expected patterns of patient care and discharge.

Abstract Background: Osteochondral allograft and autograft transplantation for femoral head defects have emerged as promising treatments for concomitant cartilage and subchondral bone injuries in young patients. The purpose of this study was to evaluate the clinical and radiological outcomes of patients who underwent osteochondral allograft or autograft transplantation for femoral head defects and access any risk factors that may lead to conversion to THA. Methods: All patients who underwent osteochondral allograft or autograft transplantation for femoral head defects were analyzed. All patients had symptomatic femoral head osteochondral defects identifiable on advanced imaging such as computed tomography or magnetic resonance imaging. Clinical outcomes were assessed at final follow-up with the modified Harris Hip Score (mHHS), Hip Outcome Score – Activities of Daily Living (HOS-ADL), Hip Outcome Score – Sport-Specific Subscale (HOS-SSS), and International Hip Outcome Tool (iHOT-12). Additionally, patients were assessed radiographically preoperatively and at a final postoperative visit using anterior-posterior and lateral radiographs for osteoarthritis using Tönnis grading. Results: A total of 27 patients were included in this study (19 osteochondral allograft transplantation, 8 osteochondral autograft transplantation). The overall mean follow-up was 4.7 years. The average mHHS, HOS-ADL, HOS-SSS, and iHOT-12 for the allograft cohort were 86.7, 92.8, 81.4, and 79.0, respectively, while for the autograft cohort it was 87.6, 92.7, 83.1, and 82.0, respectively. For the allograft cohort, there were a total of 5 reoperations (26.3%) consisting of 4 THA at a mean of 1.9 years and 1 trochanteric osteotomy nonunion at 0.7 year. For the remaining allograft patients who did not undergo treatment failure, only one (6.7%) had radiographic osteoarthritis progression. None of the patients in the autograft cohort underwent THA. Overall, conversion to THA was 14.8%. Conclusion: Osteochondral allograft and autograft transplantation for femoral head defects demonstrated overall favorable clinical outcomes and conversion to THA at mean 5-year follow-up and should be considered for patients with focal femoral head defects.

Abstract The advent of high-throughput sequencing has led to an exponential increase in genomic data, highlighting the need for efficient and accurate models to analyze and interpret this information. Here, we introduce a novel, exomic foundational model that leverages a combination of human reference genome and multispecies data to improve variant detection and interpretation. Our model utilizes a short- range transformer architecture and is trained on a large dataset of human exomic sequences derived from the Tapestry study. Through a series of ablation studies and scaling experiments, we demonstrate the effectiveness of our model in pre- dicting next token accuracy and identifying clinically pathogenic variants. We also show that our model outperforms existing models in a range of downstream tasks, including variant effect prediction and disease state identification. In fact, our largest STRAND variant (1B parameters) surpassed previous benchmarks, demonstrating a mean accuarcy of 0.880 (8.2% improvement over the original NT and 7% improvement over NT-v2). Furthermore, we construct a unique exomic ClinVar dataset to evaluate the model’s performance on pathogenicity and disease states. Our results highlight the potential of this model to improve our understanding of the human exome and its role in disease. The model and its applications have significant implications for genomic based diagnosis and personalized medicine including tailored therapeutic development.

AbstractDespite the pivotal role of communication skills in genetic counseling, communication strategies employed by genetic counselors in their current practice remain largely unexplored. The field of genetic counseling could benefit from updated simulated genetic counseling sessions conducted by genetic counselors illustrating a diversity of skills. This paper outlines the development and evaluation of updated simulations used to develop an online training course to identify genetic counseling skills and to assess how commonly these skills are used. Practicing genetic counselors in the United States were recruited to counsel trained standardized patients across six pretest and posttest simulated sessions in cancer, prenatal, and cardiology genetics settings. Sessions were coded using the novel Genetic Counseling Skills Checklist to identify which communication and counseling skills were utilized. Standardized patients were asked to provide session quality ratings and written feedback, which were analyzed using descriptive statistics and content analysis, respectively. Results from 64 recorded sessions involving 20 counselors from a variety of training programs, racial and ethnic backgrounds, states of residence, and with varying years of clinical experience revealed utilization of a broad array of skills across specialty types and clinical indications. The total number of unique skills used varied widely from 12 to 49, with an average of 35.8 out of 56 possible skills checked per session. Differences in skill usage were observed between pretest and posttest sessions. Standardized patient comments were predominantly positive with a focus on information delivery and empathetic responses. Perceptions of areas of improvement were giving less information, having clearer delivery, and expressing more empathy. This work led to the creation of a training course showcasing various skills used by practicing genetic counselors, which summarizes commonly used skills and other promising but less frequently utilized ones.