Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease caused by mutations in the NF1 gene. The disease is characterized by neurofibromatosis, which simultaneously affects multiple systems such as nerves, skin, and bone, and has complex clinical manifestations. Since the National Institutes of Health (NIH) established diagnostic criteria in 1988, the diagnosis and treatment of NF1 have progressed significantly. However, due to the complexity of the disease and the lack of effective treatments, the diagnosis and treatment of NF1 still face many challenges. Strengthening multidisciplinary collaboration, improving and popularizing disease diagnosis and treatment strategies, and developing more effective drugs and treatment methods are the keys to further improve the treatment level of NF1 diseases.
Objective: To review the emergency management and perioperative strategies for ruptured neurofibromatosis type 1 (NF1)-related giant plexiform neurofibroma (PNF), providing a systematic treatment protocol to improve the therapeutic outcomes and quality of life for patients with giant PNF.
Methods: The literature on the management of giant PNF rupture and hemorrhage was reviewed, and the diagnosis, treatment, and perioperative management were summarized based on clinical experiences.
Results: By implementing an integrated diagnostic and treatment strategy that includes early diagnosis, imaging evaluation, emergency ultra-selective arterial embolization combined with surgical excision, acute hemorrhage can be effectively controlled while also reducing the risk of major intraoperative bleeding and minimizing postoperative complications. As a result, this approach significantly improves treatment success rates and patient quality of life.
Conclusion: For ruptured NF1-related giant PNF, employing emergency ultra-selective arterial embolization combined with surgical excision, under the collaboration of a multidisciplinary team, can effectively improve treatment success rates, rapidly control bleeding, reduce tumor size, and lower mortality. Future research should focus on assessing the long-term quality of life of patients treated for ruptured and hemorrhaging giant PNF and on further optimizing treatment protocols.
Objective: To evaluate the effectiveness of Cross-Union surgery for the treatment of pseudarthrosis of the tibia (PT) with neurofibromatosis type 1 (NF1).
Methods: The clinical data of 8 children of PT with NF1 who met the selection criteria between January 2018 and December 2023 was retrospectively analyzed. There were 5 boys and 3 girls, and the operative age ranged from 1.8 to 13.3 years with a median age of 3.5 years. According to Paley classification, there were 2 cases of type 2a, 2 cases of type 3, 2 cases of type 4a, and 2 cases of type 4c. There were 5 cases of first operation and 3 cases of re-fracture after previous operation. Six cases had leg length discrepancy before operation, and 2 of them had shortening over 2.0 cm. Except for 1 case of ankle fusion, the other 7 cases had ankle valgus. Preoperative coronal/sagittal angulation was recorded. Postoperative pseudarthrosis healing and refracture were observed. Leg length discrepancy and tibiotalar angle were measured and recorded before operation and at last follow-up. Inan imaging evaluation criteria was used to evaluate the imaging effect.
Results: All patients were followed up 12-37 months (mean, 23.5 months). One pseudarthrosis failed to heal at 12 months after operation and healed at 3 months after reoperation, while the other pseudarthrosis healed with a healing rate of 87.5% and a healing time of 4-8 months (mean, 5.3 months). No refracture occurred during the follow-up. At last follow-up, there were 2 new cases with leg length discrepancy, which were 0.7 cm and 1.3 cm, respectively. In 2 cases with the leg length discrepancy more than 2.0 cm before operation, the improvement was from 4.1 cm and 12.6 cm to 2.1 cm and 9.0 cm, respectively. There was no significant difference in leg length discrepancy between pre- and post-operation in 8 cases ( P>0.05). At last follow-up, 6 patients still had ankle valgus, and there was no significant difference in the tibiotalar angle between pre- and post-operation ( P>0.05); the tibial coronal/sagittal angulation significantly improved when compared with that before operation ( P<0.05). According to Inan imaging evaluation criteria, 1 case was good, 6 cases were fair, and 1 case was poor.
Conclusion: Cross-Union surgery is an effective method for the treatment of PT with NF1 in children, can achieve good bone healing results with a low risk of re-fracture. The surgery may not have significant effects on leg length discrepancy and ankle valgus, and further treatment may be required.
Objective: To investigate the causes of spontaneous osteogenesis of Masquelet technique induced membrane.
Methods: Forty-two male Sprague-Dawley rats aged 7-9 weeks were selected to establish a critical-sized bone defect of the right middle femur model. Then the rats were randomly divided into 4 groups, with 12 rats in groups A-C and 6 rats in group D. The bone defects in groups A-C were filled with vancomycin-loaded polymethyl methacrylate bone cement spacers. Then the Kirschner wires were used for intramedullary fixation in groups A and B, and the bone cement was used to connect the bone cement spacers and the bone ends in group B. The steel plate was used to fixation in group C. The bone defect in group D was only fixed with steel plate as a blank control group. The general condition was observed after operation. At 5 weeks after operation, 6 rats in groups A-C were selected for STRO-1 immunohistochemical staining to observe the content of mesenchyme stem cells (MSCs) in the induced membrane (STRO-1 + cells). At 12 weeks after operation, the remaining rats in groups A-D were taken for X-ray observation, gross observation, and histological observation (HE, safranin O-green staining) to observe the spontaneous osteogenesis of the membrane.
Results: All rats in the 4 groups survived until the completion of the experiment. At 5 weeks after operation, the immunohistochemical staining showed that group B was negative, while the contents of MSCs in the induced membrane in groups A and C were 14.20%±1.92% and 5.00%±0.71%, respectively, with a significant difference ( P<0.05). At 12 weeks after operation, group A showed that the new bone formed at the osteotomy site and growth towards the center of the bone defect, with an average length of 3.1 mm on one side; and the presence of bone, cartilage lesions, fibers, and a small amount of neovascularization were observed in the induced membrane. Group C only had a small amount of new bone at the osteotomy site, and a small amount of neovascularization in the induced membrane. Groups B and D did not have any new bone, but bone resorption or atrophy at the osteotomy site.
Conclusion: Although the Masquelet technique induced membrane has osteogenesis, the key factor for the spontaneous osteogenesis is the bone marrow overflow from the bone marrow cavity providing MSCs. The spontaneous osteogenesis of the induced membrane belongs to endochondral ossification.
Objective: To summarize the treatment strategies and clinical experiences of 5 cases of giant plexiform neurofibromas (PNF) involving the head, face, and neck.
Methods: Between April 2021 and May 2023, 5 patients with giant PNFs involving the head, face, and neck were treated, including 1 male and 4 females, aged 6-54 years (mean, 22.4 years). All tumors showed progressive enlargement, involving multiple regions such as the maxillofacial area, ear, and neck, significantly impacting facial appearance. Among them, 3 cases involved tumor infiltration into deep tissues, affecting development, while 4 cases were accompanied by hearing loss. Imaging studies revealed that all 5 tumors predominantly exhibited an invasive growth pattern, in which 2 and 1 also presenting superficial and displacing pattern, respectively. The surgical procedure followed a step-by-step precision treatment strategy based on aesthetic units, rather than simply aiming for maximal tumor resection in a single operation. Routine preoperative embolization of the tumor-feeding vessels was performed to reduce bleeding risk, followed by tumor resection combined with reconstructive surgery.
Results: All 5 patients underwent 1-3 preoperative embolization procedures, with no intraoperative hemorrhagic complications reported. Four patients required intraoperative blood transfusion. A total of 10 surgical procedures were performed across the 5 patients. One patient experienced early postoperative flap margin necrosis due to ligation for hemostasis; however, the incisions in the remaining patients healed without complications. All patients were followed up for a period ranging from 6 to 36 months, with a mean follow-up duration of 21.6 months. No significant tumor recurrence was observed during the follow-up period.
Conclusion: For patients with giant PNF involving the head, face, and neck, precision treatment strategy can effectively control surgical risks and improve the standard of aesthetic reconstruction. This approach enhances overall treatment outcomes by minimizing complications and optimizing functional and cosmetic results.
Objective: To review research progress on femoral attachment positioning during medial patellofemoral ligament (MPFL) reconstruction, so as to provide a reference for accurate positioning in clinic.
Methods: The literature at home and abroad on femoral attachment positioning during MPFL reconstruction was extensively reviewed and summarized.
Results: MPFL is the main ligament that restricts patellar outward migration, so MPFL reconstruction is the main treatment for patellar dislocation, but the accuracy of intraoperative femoral attachment positioning will significantly affect the effectiveness. At present, there are three main methods for femoral attachment positioning in MPFL reconstruction, including imaging positioning, bony landmark positioning, and new technology. Among them, the main imaging positioning method is the "Schöttle point" method, but it has high requirements for fluoroscopic positioning, and can only be accurately positioned under standard lateral fluoroscopy of the femur. The bony landmark positioning method mainly locates the femoral attachment by touching or dissecting the bony landmarks such as adductor tubercles and medial epicondyle of femur, but its disadvantages are that the positioning is not accurate enough, the intraoperative visual field exposure requirements are high, and a large incision is required. In order to avoid the problem that the simple bony landmark positioning method, in recent years, the combination of bony landmarks combined with arthroscopy, three-dimensional (3D) printing technology, and robot-assisted positioning methods have begun to be used in clinical practice. New technology localization methods have shown good results by preparing guides before operation, planning positioning paths in advance, or directly using robots to assist positioning during operation.
Conclusion: The accurate positioning of the femoral attachment in MPFL reconstruction is crucial, and the method of accurate and rapid intraoperative determination needs to be further improved and optimized. In the future, it is expected that the combination of computer image recognition correction technology and intraoperative position assistance will solve this problem.
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：