Faculty Bibliography

Objective: We sought to identify novel genes and to establish the contribution of known genes in a large cohort of patients with nonsyndromic sporadic polymicrogyria and epilepsy.
Method(s): We enrolled participants with polymicrogyria and their parents through the Epilepsy Phenome/Genome Project. We performed phenotyping and whole exome sequencing (WES), trio analysis, and gene-level collapsing analysis to identify de novo or inherited variants, including germline or mosaic (postzygotic) single nucleotide variants, small insertion-deletion (indel) variants, and copy number variants present in leukocyte-derived DNA.
Result(s): Across the cohort of 86 individuals with polymicrogyria and epilepsy, we identified seven with pathogenic or likely pathogenic variants in PIK3R2, including four germline and three mosaic variants. PIK3R2 was the only gene harboring more than expected de novo variants across the entire cohort, and likewise the only gene that passed the genome-wide threshold of significance in the gene-level rare variant collapsing analysis. Consistent with previous reports, the PIK3R2 phenotype consisted of bilateral polymicrogyria concentrated in the perisylvian region with macrocephaly. Beyond PIK3R2, we also identified one case each with likely causal de novo variants in CCND2 and DYNC1H1 and biallelic variants in WDR62, all genes previously associated with polymicrogyria. Candidate genetic explanations in this cohort included single nucleotide de novo variants in other epilepsy-associated and neurodevelopmental disease-associated genes (SCN2A in two individuals, GRIA3, CACNA1C) and a 597-kb deletion at 15q25, a neurodevelopmental disease susceptibility locus.
Significance: This study confirms germline and postzygotically acquired de novo variants in PIK3R2 as an important cause of bilateral perisylvian polymicrogyria, notably with macrocephaly. In total, trio-based WES identified a genetic diagnosis in 12% and a candidate diagnosis in 6% of our polymicrogyria cohort. Our results suggest possible roles for SCN2A, GRIA3, CACNA1C, and 15q25 deletion in polymicrogyria, each already associated with epilepsy or other neurodevelopmental conditions without brain malformations. The role of these genes in polymicrogyria will be further understood as more patients with polymicrogyria undergo genetic evaluation.
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Background/UNASSIGNED:An adult reconstruction (AR) fellowship is designed to provide advanced training for a broad range of primary reconstructive and complex knee revision surgeries. This study aims to identify outcome differences between primary total knee arthroplasty (TKA) performed by AR fellowship-trained surgeons and non-AR (NAR) fellowship-trained surgeons. Material and Methods/UNASSIGNED:-tests. Primary outcomes were compared using multilinear regressions, controlling for demographic differences. Results/UNASSIGNED:< .001) scores were significantly higher for the AR cohort but did not exceed the minimal clinically important difference. Conclusion/UNASSIGNED:This study demonstrates significantly shorter surgical times and greater improvements in KOOS, JR and VR-12 PCS scores associated with TKAs performed by AR fellowship-trained surgeons. Level III Evidence/UNASSIGNED:Retrospective Cohort Study.

BACKGROUND:Vancomycin powder and dilute povidone-iodine lavage (VIP) was introduced to reduce the incidence of periprosthetic joint infection (PJI) in high-risk total knee arthroplasty (TKA) patients. We hypothesize that VIP can reduce the incidence of early PJI in all primary TKA patients, regardless of preoperative risk. METHODS:An infection database of primary TKAs performed before a VIP protocol was implemented (January 2012-December 2013), during a time when only high-risk TKAs received VIP (January 2014-December 2015), and when all TKAs received VIP (January 2016-September 2019) at an urban, university-affiliated, not-for-profit orthopedic hospital was retrospectively reviewed to identify patients with PJI. Criteria used for diagnosis of PJI were the National Healthcare Safety Network and Musculoskeletal Infection Society guidelines. RESULTS:VIP reduced early primary TKA PJI incidence in both the high-risk and all-risk cohorts compared with the pre-VIP cohort by 44.6% and 56.4%, respectively (1.01% vs 0.56% vs 0.44%, P = .0088). In addition, after introducing VIP to all-risk TKA patients, compared with high-risk TKA patients, the relative risk of PJI dropped an additional 21.4%, but this finding did not reach statistical significance (0.56% vs 0.44%, P = .4212). There were no demographic differences between the 3 VIP PJI cohorts. CONCLUSION/CONCLUSIONS:VIP is associated with a reduced early PJI incidence after primary TKA, regardless of preoperative risk. With the literature supporting its safety and cost-effectiveness, VIP is a value-based intervention, but given the nature of this historical cohort study, a multicenter randomized controlled trial is underway to definitively confirm its efficacy.

Background/UNASSIGNED:Total hip arthroplasty (THA) is an effective operation for patients with hip osteoarthritis; however, patients with hip dysplasia present a particular challenge. Our novel study examined the effect of robot-assisted THA in patients with hip dysplasia. Methods/UNASSIGNED:We retrospectively reviewed patients with developmental dysplasia of the hip undergoing primary THA using robotic arm assistance at 2 institutions from January 2010 to January 2017. Patients undergoing revision arthroplasty were excluded. Preoperatively, all patients underwent a computed tomography scan so that 3-dimensional templating could be performed. Hip range of motion (ROM) and clinical leg length discrepancy were recorded preoperatively. Two independent observers calculated Crowe and Hartofilakidis grades for each operative hip. At the final follow-up, hip ROM, postoperative complications, and modified Harris Hip scores were obtained. Results/UNASSIGNED:< .0002). There were no complications during the short-term interim follow-up (mean: 3.1 years). Conclusions/UNASSIGNED:Robot-assisted THA can be a useful method to ensure adequate component positioning and excellent outcomes in patients with hip dysplasia. Level of Evidence/UNASSIGNED:Level III, Retrospective.

Selective supplementation of acetabular component fixation with a screw during primary total hip arthroplasty (THA) assumes that the surgeon can detect when an acetabular component needs additional stability. In contrast, nonselective screw users do not alter their practice based on their interpretation of stability and either use screws all or none of the time. We aimed to determine the effect of selective screw use on aseptic acetabular component loosening. We retrospectively reviewed aseptic failures of acetabular components after primaty THA. We compared the survivorship of selective and nonselective supplementation of acetabular fixation with respect to time to revision, obesity, and screw use. Selective screw use (n = 16) was associated with earlier acetabular component aseptic loosening (median: 1.9 years; interquartile range [IQR]: 1.1-5.0) compared to nonselective screw use (n = 22; median: 5.6 years; IQR: 2.0-15.3; P = .010). Selective screw use was independently associated with earlier revision after adjusting for patient obesity. Obesity was associated with selective screw use in 50% of the cases vs 14% of nonselective cases (odds ratio: 6.3; confidence interval: 1.2-25.2; P = .028), possibly reflecting the increased difficulty in achieving acetabular component stability in this and other settings with compromised bone. Surgeons should carefully assess component stability at time of primary THA. If the acetabulum is not stable, the addition of screws alone may not be sufficient for acetabular component stability.

BACKGROUND:Total knee arthroplasty (TKA) provides excellent results across a variety of pathologies. As greater focus is placed on the opioid epidemic, we sought to determine if patients presenting for TKA via the Medicaid clinic (Medicaid) differed in terms of their opioid requirements compared to patients presenting via private office clinics (non-Medicaid). METHODS:A single-institution total joint arthroplasty database was utilized to identify patients who underwent elective TKA between January 2016 and May 2019. Medicaid clinic patients were insured by some form of Medicaid, whereas private office patients had commercial or Medicare insurance. Morphine milligram equivalents (MMEs) and Activity Measure for Post-Acute Care scores were calculated. RESULTS:A total of 6509 patients were identified: 413 (6.35%) Medicaid and 6096 (93.65%) non-Medicaid. Medicaid patients were younger (63.32 vs 66.21 years, P < .0001), less likely to be of Caucasian race (21.31% vs 56.82%, P < .0001), and more likely to be active smokers (11.14% vs 7.73%, P < .0001). Although surgical time and home discharge rates were similar, Medicaid patients had longer length of stay (2.80 vs 2.46 days, P < .0001). Opioid requirements were higher for Medicaid patients (200.1 vs 132.2 MMEs, P < .0001), paralleling higher pain scores (3.03 vs 2.55, P < .0001). No differences were found in Activity Measure for Post-Acute Care scores (18.47 vs 18.77, P = .1824). CONCLUSION/CONCLUSIONS:Medicaid patients tended to be younger, of minority race, and active smokers compared to non-Medicaid patients. Medicaid patients demonstrated worse postoperative pain scores and required 51% greater MMEs immediately following TKA, highlighting the need for preoperative counseling in traditionally at-risk socioeconomic groups. LEVEL OF EVIDENCE/METHODS:III, Retrospective Observational Analysis.

OBJECTIVES:(1) To demonstrate how a risk assessment tool modified to account for the COVID-19 virus during the current global pandemic is able to provide risk assessment for low-energy geriatric hip fracture patients. (2) To provide a treatment algorithm for care of COVID-19 positive/suspected hip fractures patients that accounts for their increased risk of morbidity and mortality. SETTING:One academic medical center including 4 Level 1 trauma centers, 1 university-based tertiary care referral hospital, and 1 orthopaedic specialty hospital. PATIENTS/PARTICIPANTS:One thousand two hundred seventy-eight patients treated for hip fractures between October 2014 and April 2020, including 136 patients treated during the COVID-19 pandemic between February 1, 2020 and April 15, 2020. INTERVENTION:The Score for Trauma Triage in the Geriatric and Middle-Aged ORIGINAL (STTGMAORIGINAL) score was modified by adding COVID-19 virus as a risk factor for mortality to create the STTGMACOVID score. Patients were stratified into quartiles to demonstrate differences in risk distribution between the scores. MAIN OUTCOME MEASUREMENTS:Inpatient and 30-day mortality, major, and minor complications. RESULTS:Both STTGMA score and COVID-19 positive/suspected status are independent predictors of inpatient mortality, confirming their use in risk assessment models for geriatric hip fracture patients. Compared with STTGMAORIGINAL, where COVID-19 patients are haphazardly distributed among the risk groups and COVID-19 inpatient and 30 days mortalities comprise 50% deaths in the minimal-risk and low-risk cohorts, the STTGMACOVID tool is able to triage 100% of COVID-19 patients and 100% of COVID-19 inpatient and 30 days mortalities into the highest risk quartile, where it was demonstrated that these patients have a 55% rate of pneumonia, a 35% rate of acute respiratory distress syndrome, a 22% rate of inpatient mortality, and a 35% rate of 30 days mortality. COVID-19 patients who are symptomatic on presentation to the emergency department and undergo surgical fixation have a 30% inpatient mortality rate compared with 12.5% for patients who are initially asymptomatic but later develop symptoms. CONCLUSION:The STTGMA tool can be modified for specific disease processes, in this case to account for the COVID-19 virus and provide a robust risk stratification tool that accounts for a heretofore unknown risk factor. COVID-19 positive/suspected status portends a poor outcome in this susceptible trauma population and should be included in risk assessment models. These patients should be considered a high risk for perioperative morbidity and mortality. Patients with COVID-19 symptoms on presentation should have surgery deferred until symptoms improve or resolve and should be reassessed for surgical treatment versus definitive nonoperative treatment with palliative care and/or hospice care. LEVEL OF EVIDENCE:Prognostic Level III. See Instructions for Authors for a complete description of Levels of Evidence.

OBJECTIVES/OBJECTIVE:To examine one health system's response to the essential care of its hip fracture population during the COVID-19 pandemic and report on its effect on patient outcomes. DESIGN/METHODS:Prospective cohort study SETTING:: Seven musculoskeletal care centers with New York City and Long Island. PATIENTS/PARTICIPANTS/METHODS:138 recent and 115 historical hip fracture patients. INTERVENTION/METHODS:Patients with hip fractures occurring between February 1, 2020 and April 15, 2020 or between February 1, 2019 and April 15, 2019 were prospectively enrolled in an orthopedic trauma registry and chart reviewed for demographic and hospital quality measures. Patients with recent hip fractures were identified as COVID positive (C+), COVID suspected (Cs) or COVID negative (C-). MAIN OUTCOME MEASUREMENTS/METHODS:Hospital quality measures, inpatient complications and mortality rates. RESULTS:Seventeen (12.2%) patients were confirmed C+ by testing and another 14 (10.1%) were suspected (Cs) of having had the virus but were never tested. The C+ cohort, when compared to Cs and C- cohorts, had: an increased mortality rate (35.3% vs 7.1% vs 0.9%), increased length of hospital stay, a greater major complication rate and a greater incidence of ventilator need postoperatively. CONCLUSIONS:COVID-19 had a devastating effect on the care of hip fracture patients during the pandemic. Although practice patterns generally remained unchanged, treating physicians need to understand the increased morbidity and mortality in hip fracture patients complicated by COVID-19. LEVEL OF EVIDENCE/METHODS:Prognostic Level III. See Instructions for Authors for a complete description of Levels of Evidence.

The optimal approach for total hip arthroplasty (THA) remains hotly debated. While wound complications following the direct anterior approach are higher than with other approaches, the organism profile of periprosthetic joint infections (PJIs) by approach remains unknown. Our goal was to compare the organism profiles of PJIs following direct anterior and non-anterior THA.