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Background: Lower limb length discrepancy (LLD) in children and adolescents, often due to congenital or acquired conditions, is treated to achieve limb equality and alignment, optimizing function and minimizing cosmetic concerns for an active adulthood. This study evaluated the Health-Related Quality of Life (HRQoL) and physical functioning of adults who underwent unilateral limb lengthening with circular external fixators (EFs) in childhood., Methods: Fifty patients treated at a median age of 14.9 years completed the Short Form 36 (SF-36) and Stanmore Limb Reconstruction Score (SLRS) questionnaires in adulthood, with a median follow-up of 8.9 years., Results: Among the 50 patients, 38 underwent a single limb lengthening (21 tibia, 12 femur, 5 both), while 12 required multiple cycles. The median residual LLD was 0.4 cm, with 12 patients (24%) having over 2 cm. Complications occurred in 67% of procedures, mainly due to prolonged healing. Physical and mental health scores were significantly lower than normative data. The mean Physical Component Summary was 52.2 ± 7.2 ( p = 0.20). The mean Mental Component Summary was 43.9 ± 8.6 ( p = 0.001), notably lower in congenital LLD cases. Many SLRS items (Pain, Social, Physical Function, Work, and Emotions) strongly correlated with SF-36 items., Conclusions: Adults treated with distraction osteogenesis for congenital LLD show normal physical but lower mental health scores compared to peers. Lengthening procedure characteristics did not significantly impact mental health. Routine psychological and social assessments are recommended to prevent long-term distress by providing appropriate support.

Background : Infantile tibia vara (ITV) is a rare proximal tibia deformity in infancy, leading to progressive knee varus. High tibial osteotomy is commonly practiced but has high recurrence rates. This study analyzed factors affecting treatment failure and recurrence in children undergoing opening-wedge high tibial osteotomy (OWHTO) for ITV. Methods : We retrospectively studied children with ITV who had OWHTO with a press-fit cancellous bone allograft between 2000 and 2020, with ≥2-year follow-up. Outcomes included recurrence (knee varus with tibiofemoral angle > 10°), complications, and reintervention. Results : We analyzed 39 knees in 29 patients (mean age: 4.8 ± 1.9 years; median follow-up: 7.4 years). Recurrence occurred in 22 cases (56%). Age at surgery significantly influenced recurrence, with rates of 16% before age 5 versus 95% later (hazard ratio: 12.0, p = 0.001). Langenskiöld stage also affected recurrence (β-coefficient: 2.7, 95% C.I. 1.0-4.5, p = 0.002; pseudo-R-squared: 0.50, p = 0.001), with recurrence in all stage IV or higher cases. Conclusions : Early diagnosis and treatment before age 5, ideally with Langenskiöld stage III or lower, are crucial for stable correction with OWHTO alone. Late, high-grade ITV may require combined, acute or gradual, and/or staged correction. Further evidence is needed for optimal management.

Purpose: To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients., Methods: A cross-sectional, observational study was conducted from May to December 2022 during the routine visit to the referral center for rare skeletal disorders. All patients with Multiple Osteochondromas aged ≥ 3 years were included. EuroQol 5-dimension questionnaires, and demographic, clinical, and surgical history data were collected. Descriptive statistics, Fisher's exact test, One-sample t-test, Spearman's correlation, and multiple linear and logistic regression were performed to analyze the data. Results are reported following STROBE guidelines., Results: A total of 128 patients were included in the study, with a mean age of 14 [SD, 10] years. The mean EQ-5D Index Value was 0.863 [SD, 0.200] and the EQ-VAS was 84 [SD, 19] with a positive correlation between two scores [r = 0.541, p < 0.001]. Patients frequently referred problems in pain/discomfort [78.8%], anxiety/depression [50%], and usual activities [38.8%] dimensions. Increasing age was the common risk factor for health-related quality of life [p < 0.000], as well as Index Value and VAS scores were significantly lower in surgical patients [p = 0.001 and p < 0.001, respectively]., Conclusion: Increasing age and surgical procedures were found highly associated with reduced health-related quality of life in Multiple Osteochondromas patients. Our findings provide relevant information to support the establishment of patient-centered healthcare pathways and pave the way for further research into medical and non-medical therapeutic strategies for these patients., (© 2024. The Author(s).)

(1) Background: Orthopedic surgery has been transformed by 3D-printed personalized instruments (3DP-PSIs), which enhance precision and reduce complications. Hospitals are adopting in-house 3D printing facilities, using cost-effective methods like Fused Deposition Modeling (FDM) with materials like Polylactic acid (PLA) to create 3DP-PSI. PLA's temperature limitations can be overcome by annealing High-Temperature PLA (ann-HTPLA), enabling steam sterilization without compromising properties. Our study examines the in vivo efficacy of ann-HTPLA 3DP-PSI in pediatric orthopedic surgery. (2) Methods: we investigated safety and efficacy using ann-HTPLA 3DP-PSI produced at an "in-office" 3D-printing Point-of-Care (3DP-PoC) aimed at correcting limb deformities in pediatric patients. Data on 3DP-PSI dimensions and printing parameters were collected, along with usability and complications. (3) Results: Eighty-three ann-HTPLA 3DP-PSIs were utilized in 33 patients (47 bone segments). The smallest guide used measured 3.8 cm 3 , and the largest measured 58.8 cm 3 . Seventy-nine PSIs (95.2%; 95% C.I.: 88.1-98.7%) demonstrated effective use without issues. Out of 47 procedures, 11 had complications, including 2 infections (4.3%; 95% CI: 0.5-14.5%). Intraoperative use of 3DP-PSIs did not significantly increase infection rates or other complications. (4) Conclusions: ann-HTPLA has proven satisfactory usability and safety as a suitable material for producing 3DP-PSI in an "in-office" 3DP-PoC.

Introduction: The present study aims to describe a large cohort of Italian patients affected by osteogenesis imperfecta, providing a picture of the clinical bony and non-bony features and the molecular background to improve knowledge of the disease to inform appropriate management in clinical practice., Methods: A total of 568 subjects (from 446 unrelated Italian families) affected by osteogenesis imperfecta who received outpatient care at Istituto Ortopedico Rizzoli from 2006 to 2021 were considered in the present study., Results: Skeletal and extraskeletal features were analyzed showing a lower height (mean z-scores equal to -1.54 for male patients and -1.47 for female patients) compared with the general Italian population. Half of the patient population showed one or more deformities, and most of the patients had suffered a relatively low number of fractures (<10). An alteration in the sclera color was identified in 447 patients. Similarly, several extraskeletal features, like deafness, dental abnormalities, and cardiac problems, were investigated. Additionally, inheritance and genetic background were evaluated, showing that most of the patients have a positive family history and the majority of pathogenic variants detected were on collagen genes, as per literature., Conclusion: This study supports the definition of a clear picture of the heterogeneous clinical manifestations leading to variable severity in terms of skeletal and extra-skeletal traits and of the genetic background of an Italian population of osteogenesis imperfecta patients. In this perspective, this clearly highlights the crucial role of standardized and structured collection of high-quality data in disease registries particularly in rare disease scenarios, helping clinicians in disease monitoring and follow-up to improve clinical practice., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision, (Copyright © 2024 Mordenti, Boarini, Banchelli, Antonioli, Corsini, Gnoli, Locatelli, Pedrini, Staals, Trisolino, Lanza and Sangiorgi.)