Congenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS. Many monogenic and polygenic CS genes remain to be elucidated. In this study, we analyzed exome sequencing (ES) data of 615 Chinese CS from the Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) project. Cosegregation studies for 103 familial CS identified a novel heterozygous nonsense variant, c.2649G>A (p.Trp883Ter) in FBN1. The association between FBN1 and CS was then analyzed by extracting FBN1 variants from ES data of 574 sporadic CS and 828 controls; 30 novel variants were identified and prioritized for further analyses. A mutational burden test showed that the deleterious FBN1 variants were significantly enriched in CS subjects (OR = 3.9, P = 0.03 by Fisher's exact test). One missense variant, c.2613A>C (p.Leu871Phe) was recurrent in two unrelated CS subjects, and in vitro functional experiments for the variant suggest that FBN1 may contribute to CS by upregulating the transforming growth factor beta (TGF-β) signaling. Our study expanded the phenotypic spectrum of FBN1, and provided nove insights into the genetic etiology of CS. Members of the Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study are listed below Acknowledgements.

Background To indicate whether combined topical and intravenous (IV) administration of tranexamic acid (TXA) could further reduce the blood loss after surgery for adolescent idiopathic scoliosis (AIS) compared with IV-TXA alone. Methods Ninety AIS patients who underwent posterior spinal fusion were prospectively randomized to combined group (IV + topical- TXA group) and IV-TXA alone group. TXA was infused at a loading dose of 1 g from the beginning of the surgery with a maintenance dose of 10 mg/kg/h until the wound was closed. In the combined group, 2 g TXA was injected retrogradely through a drain, while an equivalent amount of normal saline was injected in the IV-TXA alone group. The drain tube was clamped for 2 h in both groups. The amount of wound drainage and transfusion rates were analyzed. Results The drainage volume and duration of drain were significantly lower in the combined group compared with that in the IV-TXA alone group (372.0 ± 129.7 mL vs. 545.2 ± 207.7 mL, P < 0.001;64.7 ± 13.9 h vs. 82.0 ± 12.5 h, P < 0.001). Postoperative length of hospital stay was also significantly shorter in the combined group (6.5 ± 1.51 days vs. 7.95 ± 1.44 days, P < 0.05). Transfusion and complication rates were comparable between the two groups . Conclusions IV injection of TXA combined with retrograde injection of TXA into a drain and clamping it for 2 h could further reduce the total volume of drainage in AIS patients who underwent spinal fusion surgery. Trial registration Chinese Clinical Trial Registry: ChiCTR1900024177, Registered 29 June 2019, http://www.chictr.org.cn/showproj.aspx?proj=40214

Background Patient follow-up is an essential part of hospital ward management. With the development of deep learning algorithms, individual follow-up assignments might be completed by artificial intelligence (AI). We developed an AI-assisted follow-up conversational agent that can simulate the human voice and select an appropriate follow-up time for quantitative, automatic, and personalized patient follow-up. Patient feedback and voice information could be collected and converted into text data automatically. Objective The primary objective of this study was to compare the cost-effectiveness of AI-assisted follow-up to manual follow-up of patients after surgery. The secondary objective was to compare the feedback from AI-assisted follow-up to feedback from manual follow-up. Methods The AI-assisted follow-up system was adopted in the Orthopedic Department of Peking Union Medical College Hospital in April 2019. A total of 270 patients were followed up through this system. Prior to that, 2656 patients were followed up by phone calls manually. Patient characteristics, telephone connection rate, follow-up rate, feedback collection rate, time spent, and feedback composition were compared between the two groups of patients. Results There was no statistically significant difference in age, gender, or disease between the two groups. There was no significant difference in telephone connection rate (manual: 2478/2656, 93.3%; AI-assisted: 249/270, 92.2%; P=.50) or successful follow-up rate (manual: 2301/2478, 92.9%; AI-assisted: 231/249, 92.8%; P=.96) between the two groups. The time spent on 100 patients in the manual follow-up group was about 9.3 hours. In contrast, the time spent on the AI-assisted follow-up was close to 0 hours. The feedback rate in the AI-assisted follow-up group was higher than that in the manual follow-up group (manual: 68/2656, 2.5%; AI-assisted: 28/270, 10.3%; P<.001). The composition of feedback was different in the two groups. Feedback from the AI-assisted follow-up group mainly included nursing, health education, and hospital environment content, while feedback from the manual follow-up group mostly included medical consultation content. Conclusions The effectiveness of AI-assisted follow-up was not inferior to that of manual follow-up. Human resource costs are saved by AI. AI can help obtain comprehensive feedback from patients, although its depth and pertinence of communication need to be improved.

Backgrounds: We intended to identify the incidence and risk factors (RFs) for Postoperative urinary retention (POUR) after applying a risk-stratified catheterization optimization method in enhanced recovery after surgery (ERAS)-total joint arthroplasty (TJA). Methods: A total of 381 patients were prospectively monitored for POUR. POUR diagnosis was done by a perioperative specialist. Data on potential risk factors (RFs) for POUR were accumulated. Univariate analysis (UA) was conducted to identify possible indicators of POUR, followed by multivariate analysis (MA) of identified indicators. Results: POUR occurred in 5.5% of cases, including 8 (3.4%) patients underwent total knee arthroplasty and 13 (10.4%) patients underwent total hip arthroplasty. In UA, age, sex, American Society of Anesthesiologists (ASA) score, and the type of operation were significantly different on UA (P = 0.046, P = 0.022, P = 0.000 and P = 0.049, respectively). Other additional predictors, including body mass index (BMI), international prostate symptom score (IPSS) score, preoperative haemoglobin (Hb), duration of operation, estimated intraoperative blood loss, intraoperative fluid volume, fluid infusion volume within 24 h postoperatively were not associated with POUR (P > 0.05). MA results demonstrated that age, ASA score, type of operation and standard intraoperative placement of an indwelling bladder catheter (SIP-IBC) were strongly associated with POUR development risk (P < 0.05). Conclusion: Overall, we had a low POUR incidence in our study cohort. However, with the shift from non-ERAS TJA to ERAS TJA protocol, it is crucial to closely monitor the male gender, advanced age, THA and SIP-IBC, as these variables can markedly enhance POUR risk.

Study design Retrospective case series. Objectives This study aimed to determine the prevalence and risk factors for orthostatic hypotension (OH) in adolescents undergoing posterior spinal fusion for spinal deformity correction. Methods The data of 282 consecutive adolescents who underwent posterior spinal fusion for spinal deformity correction in our center over 12 months were retrieved. Patient characteristics, including whether laminectomy or osteotomy was performed during the surgery, the occurrence of postoperative nausea and vomiting (PONV), perioperative hemoglobin albumin changes, perioperative blood transfusion, length of bed rest, willingness to ambulate, length of postoperative exercises of the lower limbs, and length of hospital stay, were collected and compared statistically between patients who did and did not develop postoperative OH. Results Of 282 patients, 197 (69.86%) developed OH postoperatively, and all cases completely resolved 5 days after the first out-of-bed exercises. Significant differences in the incidence of PONV, the willingness to ambulate and the length of postoperative exercises of the lower limbs were observed. The mean length of hospital stay of the patients with OH was longer than that of the patients without OH. Conclusion Our study suggests that temporary OH is a common manifestation following posterior spinal fusion for spinal deformity correction in adolescents. Postoperative OH may increase the length of hospital stay in these patients. Patients with PONV, who are not willing to ambulate and who perform postoperative lower limb exercises for a shorter time are more likely to have OH.

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Study Design: Retrospective case series.Objectives: This study aimed to determine the prevalence and risk factors for orthostatic hypotension (OH) in adolescents undergoing posterior spinal fusion for spinal deformity correction.Methods: The data of 312 consecutive adolescents who underwent posterior spinal fusion for spinal deformity correction in our center over 12 months were retrieved. Patient characteristics, including whether laminectomy or osteotomy was performed during the surgery, the occurrence of postoperative nausea and vomiting (PONV), perioperative hemoglobin albumin changes, perioperative blood transfusion, length of bed rest, willingness to ambulate, length of postoperative exercises of the lower limbs, and length of hospital stay, were collected and compared statistically between patients who did and did not develop postoperative OH.Results: Of 312 patients, 225 (72.1%) developed OH postoperatively, and all cases completely resolved 5 days after the first out-of-bed exercises. Significant differences in BMI, the incidence of PONV, the willingness to ambulate and the length of postoperative exercises of the lower limbs were observed. The mean length of hospital stay of the patients with OH was longer than that of the patients without OH.Conclusion: Our study suggests that temporary OH is a common manifestation following posterior spinal fusion for spinal deformity correction in adolescents. Postoperative OH may increase the length of hospital stay in these patients. Patients with PONV, who are not willing to ambulate and who perform postoperative lower limb exercises for a shorter time are more likely to have OH.

BACKGROUND Patient follow-up is an essential part of hospital ward management. With the development of deep learning algorithms, individual follow-up assignments might be completed by artificial intelligence (AI). We developed an AI-assisted follow-up conversational agent that can simulate the human voice and select an appropriate follow-up time for quantitative, automatic, and personalized patient follow-up. Patient feedback and voice information could be collected and converted into text data automatically. OBJECTIVE The primary objective of this study was to compare the cost-effectiveness of AI-assisted follow-up to manual follow-up of patients after surgery. The secondary objective was to compare the feedback from AI-assisted follow-up to feedback from manual follow-up. METHODS The AI-assisted follow-up system was adopted in the Orthopedic Department of Peking Union Medical College Hospital in April 2019. A total of 270 patients were followed up through this system. Prior to that, 2656 patients were followed up by phone calls manually. Patient characteristics, telephone connection rate, follow-up rate, feedback collection rate, time spent, and feedback composition were compared between the two groups of patients. RESULTS There was no statistically significant difference in age, gender, or disease between the two groups. There was no significant difference in telephone connection rate (manual: 2478/2656, 93.3%; AI-assisted: 249/270, 92.2%; <i>P</i>=.50) or successful follow-up rate (manual: 2301/2478, 92.9%; AI-assisted: 231/249, 92.8%; <i>P</i>=.96) between the two groups. The time spent on 100 patients in the manual follow-up group was about 9.3 hours. In contrast, the time spent on the AI-assisted follow-up was close to 0 hours. The feedback rate in the AI-assisted follow-up group was higher than that in the manual follow-up group (manual: 68/2656, 2.5%; AI-assisted: 28/270, 10.3%; <i>P</i>&lt;.001). The composition of feedback was different in the two groups. Feedback from the AI-assisted follow-up group mainly included nursing, health education, and hospital environment content, while feedback from the manual follow-up group mostly included medical consultation content. CONCLUSIONS The effectiveness of AI-assisted follow-up was not inferior to that of manual follow-up. Human resource costs are saved by AI. AI can help obtain comprehensive feedback from patients, although its depth and pertinence of communication need to be improved.