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Purpose To explore the frequency and positions of genetic mutations in CYP1B1 and FOXC1 in a Japanese population. Study design Molecular genetic analysis. Methods Genomic DNA was extracted from 31 Japanese patients with childhood glaucoma (CG) from 29 families. We examined the CYP1B , FOXC1 , and MYOC genes using Sanger sequencing and whole-exome sequencing (WES). Results For CYP1B1 , we identified 9 families that harbored novel mutations, p.A202T, p.D274E, p.Q340*, and p.V420G; the remaining mutations had been previously reported. When mapped to the CYP1B1 protein structure, all mutations appeared to influence the enzymatic activity of CYP1B1 by provoking structural deformity. Five patients were homozygotes or compound heterozygotes, supporting the recessive inheritance of the CYP1B1 mutations in CG. In contrast, four patients were heterozygous for the CYP1B1 mutation, suggesting the presence of regulatory region mutations or strong modifiers. For the FOXC1 gene, we identified 3 novel mutations, p.Q23fs, p.Q70R, and p.E163*, all of which were identified in a heterozygous state. No mutation was found in the MYOC gene in these CG patients. All individuals with CYP1B1 and FOXC1 mutations were severely affected by early-onset CG. In the CYP1B1- , FOXC1- , and MYOC- negative families, we also searched for variants in the other candidate genes reported for CG through WES, but could not find any mutations in these genes. Conclusions Our analyses of 29 CG families revealed 9 families with point mutations in the CYP1B1 gene, and four of those patients appeared to be heterozygotes, suggesting the presence of complex pathogenic mechanisms. FOXC1 appears to be another major causal gene of CG, indicating that panel sequencing of CYP1B1 and FOXC1 will be useful for diagnosis of CG in Japanese individuals.

IntroductionEnd-stage renal disease (ESRD) leads to multiple systemic effects and patients suffer from multiple comorbidities including fractures. While previous studies have examined complications following hip fracture surgery in ESRD patients, there are no studies evaluating other lower extremity fractures. This study aimed to identify postoperative complication risk in patients with ESRD who had lower extremity fractures.MethodsUsing our database from 2000 to 2015 at two level-one trauma centres, we collected data on patients over age 40, who had lower extremity fractures and surgical fixation. Diagnosis of ESRD was made before the injury. Each ESRD patient was matched by two non-ESRD patients regarding age, gender, American Society of Anaesthesiologists (ASA) score, and AO/OTA fracture classification. Postoperative outcomes were non-union, mechanical failure, and infection. The number of outcome events was compared between the ESRD and non-ESRD cohorts.ResultsA total of 195 patients (65 ESRD patients matched to 130 non-ESRD patients) were identified. Median follow-up was 31 months (12–141 months). Patients with ESRD were 3.6 time more likely to have at least one postoperative complication (mechanical failure, non-union, or infection) compared to non-ESRD patients (9/65 vs. 5/130, p = 0.02). In particular, mechanical failure was eight times higher among ESRD patients compared to non-ESRD patients (8/65 vs. 2/130, p < 0.01).ConclusionsESRD was associated with higher rates of complications, especially mechanical failure, after lower extremity fracture surgeries.

Background: Total ankle arthroplasty (TAA) has become increasingly popular in the treatment for end-stage ankle arthritis in recent decades. However, there is limited evidence regarding the long-term clinical outcomes and complication rates of modern TAA implants. Methods: This study presents a follow-up on a previous cohort involving 78 patients (81 ankles) who underwent Salto Talaris fixed-bearing TAA to treat end-stage arthritis, with a mean postoperative follow-up of 5.2 years. The aim of this follow-up study was to assess the radiographic (33 patients, 35 ankles) and clinical (48 patients, 50 ankles) results from the original cohort at a mean of 10.7 years (range, 7.8-14 years). Results: At a mean of 10.7 years, the Kaplan-Meier estimated survivorship was 84.2% (95% CI, 71.9%-98.6%). For the patients reviewed, we did not find any change in patient-reported outcomes between an average 5- and 11-year follow-up. Measured total range of motion and plantarflexion did not change between 1 and 11 years, but dorsiflexion was measured as decreasing by an average of 4 degrees (P < .02). Conclusion: In this longer-term follow-up of a limited cohort, we found that Salto Talaris fixed-bearing TAA demonstrated good long-term survival with relatively low rates of revision or other complications. Patient-reported outcome and range of motion measures revealed good stability. Level of Evidence: Level III, therapeutic. Visual Abstract

Background: Biomechanical studies have demonstrated that arthroscopic rotator cuff repair using a linked double-row equivalent construct results in significantly higher load to failure compared with conventional transosseous-equivalent constructs. Purpose: To determine the patient-reported outcomes (PROs), reoperation rates, and complication rates after linked double-row equivalent rotator cuff repair for full-thickness rotator cuff tears. Study Design: Case series; Level of evidence, 4. Methods: Consecutive patients who underwent linked double-row equivalent arthroscopic rotator cuff repair with minimum 2-year follow-up were included. The primary outcome was the American Shoulder and Elbow Surgeons (ASES) score at final follow-up. Secondary outcomes included the Simple Shoulder Test (SST), shortened Disabilities of the Arm, Shoulder and Hand (QuickDASH) questionnaire, visual analog scale (VAS), reoperations, and complications. Clinical relevance was defined by the minimally clinically important difference (MCID). Comparisons on an individual level that exceeded MCID (individual-level scores) were deemed clinically relevant. Comparisons between preoperative and postoperative scores were completed using the Student t test. All P values were reported with significance set at P < .05. Results: A total of 42 shoulders in 41 consecutive patients were included in this study (21 male patients [51.2%]; mean age, 64.5 ± 11.9 years; mean follow-up, 29.7 ± 4.5 months). All patients (100%) completed the minimum 2-year follow-up. The rotator cuff tear measured on average 15.2 ± 8.9 mm in the coronal plane and 14.6 ± 9.8 mm in the sagittal plane. The ASES score improved significantly from 35.5 ± 18.2 preoperatively to 93.4 ± 10.6 postoperatively (P < .001). The QuickDASH (P < .001), SST (P < .001), and VAS (P < .001) scores also significantly improved after surgery. All patients (42/42 shoulders; 100%) achieved clinically relevant improvement (met or exceeded MCID) on ASES and SST scores postoperatively. There were no postoperative complications (0.0%) or reoperations (0.0%) at final follow-up. Conclusion: Arthroscopic repair of full-thickness rotator cuff tears with the linked double-row equivalent construct results in statistically significant and clinically relevant improvements in PRO scores with low complication rates (0.0%) and reoperation rates (0.0%) at short-term follow-up.

Objective To evaluate the utility of the X-ray attenuation coefficient as a measure for quantifying the radiopacity of restorative resins at different exposure times and film speeds. Materials and methods Five restorative resins were made into disks, measuring 10 mm in diameter with thicknesses of 0.5, 1.0, 1.5, 2.0, and 2.5 mm. These resin disks, an aluminum step wedge, and a lead disk were placed on size 4 Ultraspeed ® D and Insight ® E/F films. X-ray parameters were 65 kVp, 10 mA, and 30-cm focus-to-film distance. Exposure times were 0.3, 0.15, and 0.10 s for the D-speed films and 0.15, 0.10, and 0.05 s for the E/F-speed films. At each exposure setting, three D- and E/F-speed films were exposed and processed immediately with an automatic processor. The optical density was measured with a transmission densitometer. The net optical density ( D ) was used to calculate the linear attenuation coefficients ( μ ) using ln D  = − μ x  + ln D 0 , where D and D 0 denote the optical density of the specimen and background, respectively. Results The linear attenuation coefficients (mm −1 ) of the five restorative resins were 0.24–0.27 for Sorare ® , 0.30–0.34 for Estelite ® , 0.36–0.39 for Gradia ® , 0.51–0.54 for Clearfil AP-X ® , and 0.52–0.56 for Beautifil ® . These were all higher than that of dentin (0.15–0.19). There was no significant difference in the attenuation coefficients at different exposure times or film speeds. Conclusions Attenuation coefficients can be used instead of aluminum wedges of equivalent thickness to quantify the radiopacity of restorative resins.

Insurance status has been shown to be a predictor of patient morbidity and mortality. The purpose of this study was to evaluate the effect of patient insurance status on the in-hospital complication rates following total knee arthroplasty. Data were obtained from the Nationwide Inpatient Sample (2004 through 2011). Patient demographics and comorbidities were analyzed and stratified by insurance type. Analysis was performed with a matched cohort comparing complication rates between patients with Medicare vs private insurance using the coarsened exact matching algorithm and multivariable logistic regression. A total of 1,352,505 patients (Medicare, 57.8%; private insurance, 35.6%; Medicaid/uninsured, 3.1%; other, 3.3%; unknown, 0.2%) fulfilled the inclusion criteria. The matched cohort analysis comparing Medicare with privately insured patients showed significantly higher risk of mortality (relative risk [RR], 1.34; P <.001), wound dehiscence (RR, 1.32; P <.001), central nervous system complications (RR, 1.16; P =.030), and gastrointestinal complications (RR, 1.13; P <.001) in Medicare patients, whereas privately insured patients had a higher risk of cardiac complications (RR, 0.93; P =.003). Independent of insurance status, older patients and patients with an increased comorbidity index were also associated with a higher complication rate and mortality following total knee arthroplasty. These data suggest that insurance status may be considered as an independent risk factor for increased complications when stratifying patients preoperatively for total knee replacement. Further research is needed to investigate the disparities in these findings to optimize patient outcomes following total knee arthroplasty. [ Orthopedics. 2018; 41(3):e340–e347.]

ObjectivesThe scatter radiation and scatter rejection effect of air gaps in cephalometric radiography were evaluated using an effective scatter point source (ESPS) model.MethodsA 16-cm-thick water-equivalent phantom was used to measure the scatter fraction. The distance from the source to the center of the object (SOD) was 150, 200, or 300 cm. The air gap was varied from 0 to 96 cm for each SOD. A photostimulable phosphor plate was used as the X-ray sensor. The measured scatter fraction ESPS model was used to simulate the scatter rejection by the air gap, and the predictions were compared with the grid.ResultsThere was excellent agreement between the ESPS model and the scatter measurements. The air gap reduced the scatter radiation, especially for an SOD of 200 or 300 cm, while keeping an object magnification of 1.1 in view of the signal-to-noise ratio improvement factor.ConclusionsThe results suggest that a grid should not be used in cephalometric radiography.

This case study examines the evolution of R&D knowledge management at Japan's business equipment maker Fuji Xerox, from the sashimi system, a Japanese origin of concurrent engineering, to its successor zen-in system, which is composed mainly of a real high-tech discussion room equipped with databases that provide technical information and two 70-inch displays that shows virtual but real-size, three-dimensional graphic models. We found that Fuji Xerox has chosen the \"hybridization strategy\" that mixes human-based and IT-based knowledge-sharing techniques. We also argue that concurrent engineering provides not only efficiency benefits but also positive effects on group and organizational creativity. Finally we present a conceptual framework of \"how concurrent engineering works\", i.e. uncertainty and diversity necessitate concurrency which produces such benefits as efficiency and creativity, and which in turn realizes product integrity.

This case study examines the evolution of R&D knowledge management at Japans business equipment maker Fuji Xerox, from the sashimi system, a Japanese origin of concurrent engineering, to its successor zen-in system, which is composed mainly of a real high-tech discussion room equipped with databases that provide technical information and two 70-inch displays that shows virtual but real-size, three-dimensional graphic models. We found that Fuji Xerox has chosen the hybridization strategy that mixes human-based and IT-based knowledge-sharing techniques. We also argue that concurrent engineering provides not only efficiency benefits but also positive effects on group and organizational creativity. Finally we present a conceptual framework of how concurrent engineering works, i.e. uncertainty and diversity necessitate concurrency which produces such benefits as efficiency and creativity, and which in turn realizes product integrity.