J Med Genet

was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of -related neurodevelopmental disorder. We collected detailed phenotypes of an international cohort of individuals (n=17) with variants assembled through the GeneMatcher platform. Missense variants were structurally modelled, and the impact of several were functionally validated. De novo variants (10 missense, 1 frameshift, 1 splice altering resulting in 9 residues insertion) in were identified among 17 unrelated individuals. Detailed phenotypes included intellectual disability (ID), microcephaly, seizures and PVNH. No specific facial characteristics were consistent across all cases, however microretrognathia was common. Various hearing and visual defects were recurrent, and interestingly, some inflammatory features were reported. MRI of the brain frequently showed abnormalities consistent with a neuronal migration disorder. We confirm the role of in an autosomal dominant syndrome with a phenotypic spectrum including severe ID, microcephaly, seizures and PVNH due to impaired neuronal migration

Adult-Acquired Flatfoot Deformity

Adult-acquired flatfoot deformity (AAFD) comprises a wide spectrum of ligament and tendon failure that may result in significant deformity and disability. It is often associated with posterior tibial tendon deficiency (PTTD), which has been linked to multiple demographic factors, medical comorbidities, and genetic processes. AAFD is classified using stages I through IV. Nonoperative treatment modalities should always be attempted first and often provide resolution in stages I and II. Stage II, consisting of a wide range of flexible deformities, is typically treated operatively with a combination of soft tissue procedures and osteotomies. Stage III, which is characterized by a rigid flatfoot, typically warrants triple arthrodesis. Stage IV, where the flatfoot deformity involves the ankle joint, is treated with ankle arthrodesis or ankle arthroplasty with or without deltoid ligament reconstruction along with procedures to restore alignment of the foot. There is limited evidence as to the optimal procedure; thus, the surgical indications and techniques continue to be researched

Determination of minimum clinically important difference (MCID) in visual analog scale for pain scores after hallux valgus correction

Category: Bunion Introduction/Purpose: Surgical outcome studies rely on patient reported outcome measurements to assess the effectiveness of treatment. The concept of minimal clinically important difference (MCID) proposes a necessary threshold to achieve clinically significant treatment results, and refers to the smallest change in outcome measure important from the patient’s perspective. In the context of visual analog scale (VAS) questionnaires, MCID refers to a clinically significant change in pain score. Determination of MCID in patient-oriented outcome questionnaires is necessary to further evaluate the effectiveness of hallux valgus surgery. Further, MCID analysis of hallux valgus surgical outcomes could provide improved insight into post-operative patient satisfaction. The purpose of this study was to determine the MCID in pre- to post-operative VAS pain score in patients undergoing surgical treatment of hallux valgus. Methods: Adult patients undergoing surgical treatment of hallux valgus were retrospectively included. Pre- and post-operative VAS pain scores (0-10) and surveys inquiring about satisfaction with pain level after surgery were collected at a minimum of 1-year post-surgery. Patients were categorized as responders or non-responders based upon a completed 6-point pain satisfaction scale. Patients reporting satisfaction scores 0-3 were categorized as non-responders, and 4-6 as responders. Four MCID calculation methods were used that have been described in previous literature: the standard deviation (SD) approach, the average change approach, the minimally detectable change (MDC) approach, and the change difference approach. The total percentage of patients meeting the calculated VAS threshold score for each MCID method was determined. The likelihood of meeting the VAS threshold for each MCID method based on responder status, hallux valgus severity, and correction status of concomitant hammertoe deformity was also determined using bivariate analysis. Results: 170 patients were included with post-operative follow-up averaging 23.6 months. VAS MCID threshold scores were 1.77points (SD approach), 5.21points (average change approach), 1.98points (MDC approach), and 4.27points (change difference approach). The patient percentage meeting the VAS threshold score for each MCID approach was 73.5%, 40.6%, 73.5%, and 48.8%, respectively. Moderate deformity procedures (Ludloff) demonstrated greater likelihood than mild deformity procedures (Chevron, Modified McBride, Aikin, Silver) of meeting the average change, MDC, and change difference approach thresholds (p=0.036, 0.035, 0.034). Severe deformity procedures (Lapidus) demonstrated greater likelihood than mild deformity procedures of meeting the SD approach threshold (p=0.046). Hammertoe correction demonstrated greater likelihood than non-correction of meeting the average change approach threshold (p=0.038). Responders demonstrated greater likelihood than non-responders of meeting all MCID approach thresholds (p<0.001). Conclusion: This study demonstrated marked variability in determining VAS MCID for hallux valgus correction (range 1.77- 5.21 points). This study suggests an association between type of hallux valgus correction and likelihood of post-operative improvement, as there was greater chance of meeting MCID with correction of greater hallux valgus deformity or hammertoe deformity. MCID methods utilizing comparisons of responder status may not be appropriate for hallux valgus patients, as responders tended to improve with time and non-responders tended to decline. Additional investigation of the optimal MCID method for hallux valgus correction is necessary to narrow the range and determine surgical efficacy

Mid-term Results of Radiographic and Functional Outcomes After Tibiotalocalcaneal Arthrodesis with Bulk Femoral Head Allograft

Category: Hindfoot Introduction/Purpose: Tibiotalocalcaneal (TTC) arthrodesis with bulk femoral head allograft has previously been reported as a way to fill large osseous hindfoot deficits in order to restore limb length, but few studies have been performed evaluating outcomes and prognostic factors. The purposes of this study were to assess functional and radiographic outcomes after TTC arthrodesis with femoral head allograft and retrospectively identify prognostic factors. Methods: A retrospective review of patients undergoing TTC arthrodesis with bulk femoral head allograft performed at an academic institution by a single fellowship-trained foot and ankle surgeon between 2004 and 2015 was conducted. Patient charts and operative reports were reviewed for patient and procedural variables, respectively. Radiographic union was assessed at the ankle and subtalar joints by another fellowship-trained foot and ankle surgeon not involved in any patient’s surgical care. Radiographic stability, defined as proper maintenance of hardware and graft positioning in the hindfoot, was also assessed. A procedure was “failed” if there was a need for revision surgery. Patients with a successful arthrodesis were contacted to score the Foot and Ankle Ability Measure-Active Daily Living (FAAM-ADL) questionnaire, visual analog scale (VAS) for pain, and Short Form-12 (SF-12) mental (MCS) and physical (PCS) components. 22 patients were identified, with average radiograph and functional follow-up times of 39.7 and 57.1 months, respectively. Results: Complete radiographic union of involved joints was achieved in 13 patients (59.1%) and in 72.7% (32/44) of all joints. Eighteen patients (81.8%) were assessed to be radiographically stable at final follow-up. Three patients (13.6%) underwent revision arthrodesis at a mean of 18.9 months postoperatively, and 19 patients (86.4%) did not require additional surgery as of final follow-up. At an average of 57.1 months postoperatively, patients significantly improved to a mean FAAM-ADL score of 71.5 from 36.3 (P<.001). The mean VAS for pain significantly improved from 76.8 to 32.9 (P<.001). The mean postoperative SF-12-MCS and SF- 12-PCS scores were 53.9 and 40.6. Additionally, 73.3% (11/15) reported being satisfied with their surgical outcomes. Male sex (P=.03) and a lateral operative approach (P=.03) both resulted in significantly worse outcomes. Conclusion: The utilization of a femoral head allograft with TTC arthrodesis in patients with large hindfoot defects is an acceptable method that can offer improved functional and sustained radiographic outcomes and patient satisfaction. Male sex and a lateral approach may be associated with an inferior prognosis

Modified Anatomic Hamstring Graft Reconstruction for Revision and Severe Cases of Lateral Ligament Instability

Category: Ankle Introduction/Purpose: Treatment for patients with severe ankle instability or failed previous ankle stabilization is not well defined. Results after ankle stabilization techniques involving non-anatomic reconstruction have historically been suboptimal, and newer techniques have limited presence in the literature. The purpose of this study is to report clinical and radiographic outcomes after modified anatomic lateral ligament reconstruction using hamstring auto- or allograft in patients with severe ankle instability or failed previous ankle stabilization. A novel technique for ligament reconstruction is also presented that is hypothesized to restore functional and radiographic ankle stability. Methods: A retrospective chart review was performed on all patients that had undergone modified anatomic lateral ligament reconstruction by a single surgeon between 2011 and 2015 with at least 6 months follow-up. Indications for modified anatomic reconstruction included failure of previous ankle stabilization or severe laxity with greater than 20 degrees of talar tilt or anterior drawer greater than 15 mm on stress radiographs. Patients completed routine pre- and post-operative functional outcome scores including Foot and Ankle Outcome Score (FAOS), Short Form 12 Health Survey (SF-12), and Visual Analog Scale (VAS). Patients underwent pre- and post-operative stress radiographs using the Telos Stress Device (Hungen, Germany). Thirty-four patients (35 ankles) were included with average follow-up of 26.7 months. Average age was 34.2 years, and there were 29 female patients and 5 male patients. Hamstring autograft was utilized in 31 ankles and hamstring allograft in 4 ankles. Results: Indications for surgery included failure of previous ankle stabilization in 13 patients and severe ankle instability in 22 patients. All functional outcome scores improved; VAS increased from 5.3 to 1.0 points (p < 0.0001), SF-12 increased from 64 to 89 points (p < 0.0001), and FAOS scores increased in all categories (p < 0.05). Radiographic measurements of instability also improved; anterior drawer decreased by 3 mm (p = 0.0002) and talar tilt decreased by 11 degrees (p < 0.0001) (see Table 1). One patient (3%) returned to the operating room for removal of hardware after over 2 years. There were 4 patients (12%) with delayed wound healing, 2 patients (6%) with neurologic complications, and 2 patients (6%) with venous thromboembolic events. Conclusion: Patients demonstrated significant improvement in functional outcome scores as well as radiographic measures of ankle stability following modified anatomic lateral ligament reconstruction in a population with severe or recurrent instability. This is the largest series to date of ankle ligament reconstruction using autograft, and it is associated with high patient satisfaction, reduced pain, improved objective stability, and low morbidity. Further study is warranted to develop well-defined guidelines on the management of patients with severe or recurrent instability

Ankle Stress Radiographs Predict Lateral Ankle Instability Better Than MRI

Category: Ankle Introduction/Purpose: Chronic ankle instability is a common entity that may be mechanical or functional in nature. Patients with mechanical instability are thought to have limited rehabilitation potential from non-operative treatment alone. Reliable identification of patients with mechanical instability may be beneficial in their treatment approach. A standardized diagnostic algorithm has not been well established using various modalities including physical examination, stress radiography, and MRI. This study aims to determine the utility of stress radiography and MRI in diagnosing mechanical ankle instability as compared to the gold standard of intra-operative stability. Methods: A retrospective chart review was performed on all patients that had stress radiographs between January 2008 through August 2013. All charts were reviewed for operative reports, progress notes, radiographs, MRI images, and reports. Stress radiographs were performed on those patients presenting with complaints of ankle instability using the Telos Stress Device (Hungen, Germany) and radiographic measurements of talar tilt and anterior drawer distance were performed by a senior resident. One hundred and four patients were identified, and 1 was excluded due to inadequate stress radiographs. The average age was 40 years, and there were 54 males and 49 females. Twenty-nine (28%) patients presented after an automobile accident or work-related injury. Thirty-eight patients (37%) were taken to the operating room, and 20 patients (53%) were found to be unstable requiring lateral ligament repair. An MRI was available for review in 30 (79%) of the patients that were taken to the operating room. Results: Talar tilt measurement of 6 degrees or greater on stress radiographs significantly predicted ligament incompetence (p = 0.0016) using intra-operative stability as the gold standard. Sensitivity of the stress radiograph was found to be 90% with respect to identifying ligament incompetence; specificity was 61%. MRI reports were reviewed and the lateral ligaments were described as intact, thickened, attenuated, or torn. There was no correlation between radiologist description of the anterior talofibular ligament (ATFL) and intra-operative stability (p = 0.31). Of the 29 patients presenting after an automobile accident or work- related injury, 18 (62%) were taken to the operating room; 10 were found to be stable and 8 were unstable requiring lateral ligament repair. Table 1 includes talar tilt measurements and intra-operative findings. Conclusion: The dynamic nature of stress radiographs may be better suited to diagnosing mechanical instability than a static MRI. This study demonstrates that stress radiographs can successfully predict mechanical instability diagnosed intra-operatively. There was no correlation between MRI findings and intra-operative stability. Though physical examination remains an important part of the work-up of a patient complaining of ankle instability, stress radiography may be a more objective tool to utilize in this population of patients

Maximizing outcomes in the treatment of radial head fractures

Abstract The radial head plays a critical role in the stability of the elbow joint and its range of motion. Injuries may occur across a spectrum of severity, ranging from low energy non-displaced fractures to high energy comminuted fractures. Multiple classification systems exist to help characterize radial head fractures and their associated injuries, as well as to guide treatment strategies. Depending on the type of fracture, non-operative management may be possible if early range of motion is initiated. Other options include open reduction and internal fixation or excision followed by arthroplasty. A lateral approach is typically used for adequate surgical exposure. Controversy still remains regarding operative management of more severe fractures, but studies have shown good outcomes after radial head replacement for these fractures. We will review the current treatments available for radial head fractures, highlighting gaps in knowledge, as well as providing recommendations for the care of these injuries. Level of evidence: Level V

Value of Supine Positioning in Repair of Achilles Tendon Ruptures

Category: Hindfoot Introduction/Purpose: The optimal method of Achilles tendon repair remains undefined. Few previous studies have quantified the financial expenses of Achilles tendon repairs in relation to functional outcomes in order to assess the overall value of the accepted repair techniques. The purpose of this study is to demonstrate the value of supine positioning during open repair (OS) of acute Achilles tendon ruptures through the quantification of operative times, costs, and outcomes in comparison to the commonly performed percutaneous prone (PP) repair technique. Methods: A retrospective review was conducted on 67 patients undergoing OS and 67 patients undergoing PP primary Achilles tendon repair with two surgeons at four surgical locations. Total operating room usage times and operating times were collected from surgical site records. Total operating room times were used to estimate the costs of room usage and anesthesia, while costs of repair equipment were collected from the respective manufacturers. Patients undergoing OS repair completed the Foot and Ankle Ability Measure (FAAM) questionnaire, with activities of daily living (ADL) and sports subscales, Short Form-12 (SF-12), with mental (MCS) and physical (PCS) health subcategories, and the visual analog scale (VAS) for pain preoperatively and at final follow-up. Results: Even with a significantly longer mean surgical time (P=.035), OS repairs had a shorter duration of total operating room time when compared to that of PP repairs (58.4 versus 69.7 minutes, P<.001). Estimated time-dependent costs were lower in OS repairs ($739 versus$861 per procedure, P<.001), while the estimated average total per procedure cost was also lower for OS repairs ($801 versus$1,910 per procedure, P<.001). For patients undergoing OS repair, FAAM-ADL (P<.001), FAAM-Sports (P<.001), SF-12-PCS (P<.001) all increased and VAS grades (P<0.001) decreased from time of initial encounter to final follow-up and were comparable to reported outcomes in the current literature. The complication rate in OS repairs (6.0%) was lower than PP repairs (11.9%), with revisions only occurring in the latter technique. Conclusion: Performing open Achilles tendon repair in the supine position offers substantial value, or “health outcomes achieved per dollar spent”, to providers due to decreased total operating room times and costs with satisfactory functional outcomes