Primordial dwarfism (PD) refers to a group of monogenic genetic disorders characterized by intrauterine growth restriction (IUGR) and severe, persistent postnatal growth retardation. These diseases have been associated with variants of multiple genes whose products are mainly involved in critical cellular biological processes such as maintenance of genomic stability, DNA damage repair, mRNA splicing regulation, and centrosome function. Variants of such genes can directly impair cell proliferation and developmental potential. With the widespread application of molecular genetic technologies such as high-throughput sequencing, significant progress has been made in the research of PD. This article focuses on the major subtypes of PD, including Seckel syndrome, Microcephalic osteodysplastic primordial dwarfism (MOPD) types I/III, MOPD type II, and Meier-Gorlin syndrome. It has systematically summarized the advances in their clinical phenotypic characteristics, pathogenic genes, and molecular mechanisms, with an aim to deepen the understanding of the essence of growth disorders associated with PD.
Humans ; Dwarfism/genetics* ; Microcephaly/genetics* ; Phenotype ; Fetal Growth Retardation/genetics* ; Osteochondrodysplasias/genetics* ; Growth Disorders ; Micrognathism ; Patella/abnormalities* ; Congenital Microtia

OBJECTIVES: To investigate the clinical application of the digital-assisted reconstruction of the mandible and tumors with free fibula transplantation and immediate implantation via the intraoral approach. METHODS: Twelve patients with benign mandibular tumors were collected. Three-dimensional mandibular reconstruction was performed digitally before surgery to simulate mandibular tumor resection, fibula resection and reconstruction, and implant implantation. The intraoperative resection of the mandibular tumor was conducted through the intraoral approach under the guidance of a guide plate, and fibula resection, molding, reconstruction, and oral fixation were immediately performed. Implant implantation was performed during the second phase of implant surgery and denture restoration was performed 1-2 months after surgery. RESULTS: The types of mandibular defects were BrownⅠ (one case), Ⅰc (four cases), Ⅱ (one case), Ⅱc(three cases), and Ⅲ (three cases). The length of the fibular bone was 12-22 cm. The number of fibular molding amputations was as follows: two cases in two segments, six cases in three segments, three cases in four segments, and one case in five segments. All of these cases underwent folding fibular reconstruction of mandibular and alveolar bone defects. A total of 44 implants were implanted, and none failed after operation. CONCLUSIONS The intraoral approach is a reliable method for the resection of mandibular benign tumors, with few postoperative complications and the ability to position and fix accurately the reconstructed folded fibula under digital design. The immediate implantation of the transplanted fibula does not affect the blood supply and has a high success rate. It is an effective and reliable method for the resection and reconstruction of mandibular benign tumors.
Humans ; Fibula/transplantation* ; Mandibular Neoplasms/surgery* ; Mandibular Reconstruction/methods* ; Bone Transplantation/methods* ; Male ; Middle Aged ; Female ; Mandible/surgery* ; Adult ; Free Tissue Flaps ; Surgery, Computer-Assisted

PURPOSE: The purpose of this cadaveric study was to compare the volume and weight of bone graft harvested using the curettage vs. the trephination technique from the anterior iliac crest. METHODS: Embalmed cadavers were studied in this experimental research. The right hemipelvis of each cadaver was used for the trephine bone harvesting technique, whereas the left hemipelvis was used for the conventional curettage technique. The weight and the volume of the harvested bone were measured and statistically compared between the 2 sides. The Wilcoxon Signed-Rank test was employed to compare the graft volume and weight obtained from the right and left sides of the hemipelvis. RESULTS: Ten embalmed adult cadavers were used in this study. All subjects were Caucasian males with a mean age of 59.8 years (range 44 - 73 years) at the time of death. A total of 81 cylindrical bone grafts were harvested from the right iliac crest. In 9 out of 81 (11.1%), the cortex of the ilium was penetrated by the chisel. The mean weight of the bone graft harvested with the trephine technique (26.97 ± 2.32) g was heavier than that harvested with the curettage technique (23.74 ± 2.09) g (p = 0.007). Similarly, the volume of the bone graft was higher in the trephine technique (8.40 ± 0.84) cm³ compared to the curettage technique (6.60 ± 1.26) cm³ (p = 0.011). The trephination technique lasted a mean of (12.76 ± 1.87) min (range 10.30-16.10 min), while the curettage technique lasted a mean of (14.53 ± 0.89) min (range 13.50-16.00 min) (p = 0.028). CONCLUSION: Harvesting anterior iliac crest bone graft with the trephine technique provides a higher bone volume and weight than the conventional curettage technique. The trephine technique might be advocated over the curettage technique, especially when a large amount of autologous bone graft is required. However, a meticulous harvesting technique should be followed to prevent complications. In particular, the three-dimensional anatomy should be kept in mind, and the depth of trephination should be well-controlled. CLINICAL TRIAL REGISTRATION Institutional Review Board registration: 2022/499.
Humans ; Ilium/surgery* ; Male ; Middle Aged ; Aged ; Cadaver ; Curettage/methods* ; Tissue and Organ Harvesting/methods* ; Bone Transplantation/methods* ; Adult ; Trephining/methods*

PURPOSE: Lateral compression (LC) injuries account for more than two-thirds of all pelvic fractures. The goal of surgical treatment is to provide adequate stability and early mobilization. The consensus on posterior fixation of such injuries is strong in the literature; however, the necessity of anterior ring fixation is not clear. Therefore, this study was formulated to determine the practicability of posterior-only fixation in LC injuries. METHODS: Between March 2015 and May 2020, all patients with LC type pelvic ring fractures who were admitted and operated upon in a single level 1 trauma center were included in this cross-sectional observational study. Demographic data, co-morbidities, treatment, types of surgical fixation, concomitant injuries and surgeries, surgical complications, length of hospital stay, injury to weight bearing duration, and follow-up period were documented. Functional outcome and quality of life were assessed using Majeed score and SF-36 questionnaire. Non-normally distributed data were presented as median (Q₁, Q₃) and normally distributed data were presented as mean ± standard deviation (SD). Spearman's rank correlation coefficient was used for correlation analysis. RESULTS: A total of 25 patients were included, with a mean age of 29.8 years. All patients were managed operatively with posterior-only fixation. The median Majeed score was 90 (76, 95). The median physical component summary score was 69.37 (38.75, 85.62). The median mental component summary score was 63.95 (39.25, 87.87). There was no significant difference compared to population norms of both physical component summary and mental component summary. Injury to weight bearing time correlated significantly (p = 0.002) with Majeed score as well as SF-36 score (p = 0.044). No other variable had a significant association with outcomes. CONCLUSION Posterior-only fixation is sufficient for fixing LC injuries with up to 80% of cases having good to excellent functional outcomes. However, comparative studies with larger sample sizes are needed for further validation.
Humans ; Male ; Female ; Adult ; Cross-Sectional Studies ; Pelvic Bones/surgery* ; Fractures, Bone/surgery* ; Fracture Fixation, Internal/methods* ; Middle Aged ; Young Adult ; Quality of Life ; Adolescent ; Length of Stay

PURPOSE: Percutaneous ilio-sacral screw (ISS) insertion using conventional C-arm fluoroscopy has been a widely employed technique for pelvic posterior ring fixation, particularly in developing regions. However, this approach presents technical challenges, leading to a high malposition rate. We introduced a new method for ISS insertion without additional equipment or software and suggested whether it could reduce the malposition rate and operating time. METHODS: This is a retrospective cohort study. The study included all patients who underwent percutaneous ISS fixation between January 2020 and December 2022. Patients treated with open reduction or other types of implants were excluded. The patients were divided into 2 groups based on the screw insertion method: Group A utilized the traditional dual-plane adjustment method, while Group B received the newly introduced method. In all cases, conventional C-arm fluoroscopy was the sole guidance during the surgical procedure. Malposition rate, radiation exposure, and operating time were compared between groups. Post-operative CT scans were used to assess screw accuracy using the Smith grading method. The Student's t-test or the Mann-Whitney U test was chosen for comparing the quantitative variables based on the normality test results. The Chi-squared test was utilized for comparing qualitative variables. RESULTS: A total of 72 patients with pelvic posterior ring disruption treated with percutaneous ISS under conventional fluoroscopy guidance were included in this study. Among them, 32 patients were in Group A and 40 patients were in Group B. In Group B, the average operation duration per screw was 33 min with 29 fluoroscopy applications, which was significantly lower than that in Group A (44 min, p < 0.001, 38 times, p < 0.001, respectively). Furthermore, the post-operative CT scan revealed that only 10.7% (6/56) of screws in Group B were inappropriately positioned according to the Smith criteria. CONCLUSION The novel method introduced in this study demonstrated a reduction in both malposition rates and operating time compared to the traditional dual-plane adjustment method. Precise pre-operative CT planning in conjunction with conventional fluoroscopy could establish this method as a widely applicable technique for percutaneous ISS fixation.
Humans ; Fluoroscopy/methods* ; Retrospective Studies ; Bone Screws ; Female ; Male ; Tomography, X-Ray Computed/methods* ; Sacrum/diagnostic imaging* ; Middle Aged ; Operative Time ; Adult ; Fracture Fixation, Internal/methods* ; Ilium/diagnostic imaging* ; Aged

PURPOSE: The fixation method commonly employed worldwide for treating unstable fractures of the posterior pelvic ring is the percutaneous iliosacral screw technique. However, prolonged operation time and frequent fluoroscopies result in surgical risks. This study aimed to investigate whether a new triangulation method could reduce operative and fluoroscopy times and increase the accuracy of screw placement. METHODS: This study is a real-world retrospective cohort analysis that examined a patient cohort who underwent percutaneous iliosacral screw fixation between January 1, 2019 and December 31, 2022. Inclusion criteria were patients (1) diagnosed with posterior pelvic ring instability who underwent pelvic fracture closed reduction and percutaneous S1 transverse-penetrating iliosacral screw placement and (2) aged >18 years. Exclusion criteria were: (1) combined proximal femoral fractures, (2) severe soft tissue injury in the surgical area, (3) incomplete imaging data, and (4) declining to provide written informed consent by the patient. The patients were divided into 2 groups according to the screw insertion method: conventional and triangulation methods. Screw placement and fluoroscopy times recorded by the C-arm were compared between the 2 methods. The accuracy of screw placement was evaluated by Smith grading on postoperative CT. Normality tests were conducted to assess the distribution of the quantitative variables and the Chi-square test was used to compare the qualitative variables. RESULTS: The study included a total of 94 patients diagnosed with posterior pelvic ring instability, who underwent percutaneous iliosacral screw placement. The patients were divided into 2 groups: 46 patients treated with the conventional surgical method and 48 patients received the triangulation method. The operation time (61.13±9.69 vs. 35.77±6.27) min and fluoroscopy frequency times (52.15±9.29 vs. 24.40±4.04) of the triangulation method were significantly reduced (p<0.001). CONCLUSIONS The use of a triangular positioning technique for the surface positioning of percutaneous iliosacral screws could reduce the operative time and fluoroscopy frequency. And the screw placement accuracy using this new method was comparable to that using other conventional methods.
Humans ; Retrospective Studies ; Bone Screws ; Pelvic Bones/surgery* ; Male ; Female ; Fracture Fixation, Internal/methods* ; Fractures, Bone/surgery* ; Adult ; Middle Aged ; Fluoroscopy ; Aged ; Sacrum/surgery* ; Operative Time

PURPOSE: End-stage knee osteoarthritis (OA) patients are the primary candidates for total knee arthroplasty (TKA). However, most morphological refinements of TKA prosthesis are based on anatomical data from the knees of healthy individuals. This study aimed to determine whether differences exist in key bony morphological characteristics of the distal femur and proximal tibia between osteoarthritic knees and healthy knees. METHODS: This was a retrospective cross-sectional observational study with a case-control design. Patients who were aged ≥ 50 years, had no history of trauma, fracture, or surgery in the studied knee, and had no obvious knee flexion contracture were included in this study by CT scans. Patients who met the American College of Rheumatology clinical criteria for knee OA were included in the study group. Kellgren-Lawrence grade III or IV knees were studied (for bilateral cases, the more severely affected knee was chosen). Patients who presented with unilateral knee pain or trauma were included in the control group, with CT scans from the opposite (asymptomatic) knee used for analyzing. The studied knee had a Kellgren-Lawrence grade of 0 or I and showed no abnormalities upon physical examination. Archived knee CT scans from 160 patients were divided into 2 groups: the study group (80 moderate-to-severe OA knees) and the control group (80 healthy knees). After 3-dimensional reconstruction and virtual cutting using a CT workstation, 13 morphological parameters of the distal femur and proximal tibia were compared between the 2 groups using independent-samples t-tests. RESULTS: No significant group differences in the femoral anteroposterior dimension (p = 0.797), height of the lateral femoral condyle (p = 0.268), posterior condylar angle (p = 0.240), tibial anteroposterior dimension (p = 0.536), or tibial lateral anteroposterior dimension (p = 0.702) were observed. However, the femoral mediolateral dimension (p = 0.002), distal femoral aspect ratio (femoral mediolateral dimension/femoral anteroposterior dimension) (p < 0.001), height of the femoral trochlear groove (p < 0.001), height of the medial femoral condyle (p < 0.001), tibial mediolateral dimension (p = 0.001), proximal tibial aspect ratio (tibial mediolateral dimension/tibial anteroposterior dimension) (p = 0.004), tibial medial anteroposterior dimension (p = 0.005), and tibial asymmetry ratio (tibial medial anteroposterior dimension/tibial lateral anteroposterior dimension) (p = 0.006) were all significantly greater in the study group. CONCLUSION Knees with moderate-to-severe OA are significantly wider than healthy knees, and OA is a risk factor for increased tibial platform asymmetry. When refining the morphological parameters of TKA prostheses, the specific bony morphological characteristics of OA knees should be taken into account to reduce the potential risk of femoral or tibial component underhang and facilitate optimal balance between tibial component fit and rotational alignment.
Humans ; Osteoarthritis, Knee/pathology* ; Male ; Female ; Cross-Sectional Studies ; Retrospective Studies ; Arthroplasty, Replacement, Knee ; Middle Aged ; Aged ; Case-Control Studies ; Prosthesis Design ; Knee Prosthesis ; Femur/anatomy & histology* ; Tibia/anatomy & histology* ; Tomography, X-Ray Computed ; Knee Joint/diagnostic imaging*

PURPOSE: Lateral patellar compression syndrome (LPCS) is characterized by a persistent abnormally high stress exerted on the lateral articular surface of the patella due to lateral patellar tilt without dislocation and lateral retinaculum contracture, leading to anterior knee pain. The purpose of this study is to evaluate the efficacy and prognosis of lateral retinaculum release (LRR) combined with chondroplasty in the treatment of LPCS. METHODS: This retrospective study evaluated 40 patients who underwent LRR combined with chondroplasty for LPCS between 2020 and 2021. The assessment included improvement in postoperative tenderness and knee joint function. Patients were evaluated using the Lysholm, Tegner, and International Knee Documentation Committee 2000 scoring systems, as well as the visual analog scale, both preoperatively and postoperatively, with the paired comparisons analyzed using a t-test. Additionally, intraoperative observations were made regarding knee joint lesions, including cartilage damage and osteophyte formation, with analysis by the Chi-square test. RESULTS: The visual analog scale score for tenderness showed a significant decrease after surgery (p < 0.001). Evaluation of knee joint function also indicated significant improvements, as demonstrated by increased Lysholm, Tegner, and International Knee Documentation Committee 2000 scores postoperatively (p < 0.001, p = 0.011, p < 0.001, respectively). Furthermore, all LPCS patients included in the study presented with cartilage injuries and osteophyte formation. Significant differences were noted in the incidence of cartilage damage and osteophyte formation at different locations within the knee among patients with LPCS. CONCLUSION LRR combined with chondroplasty is an effective surgical approach for treating patients with LPCS, with satisfactory recovery observed at the 1-year follow-up. Additionally, the incidence of cartilage damage and osteophyte formation in LPCS patients varies significantly depending on the specific location within the knee joint.
Humans ; Male ; Female ; Retrospective Studies ; Adult ; Middle Aged ; Patella/surgery* ; Knee Joint/physiopathology* ; Recovery of Function ; Young Adult ; Treatment Outcome ; Cartilage, Articular/surgery* ; Adolescent

Greater trochanteric pain syndrome(GTPS)is a disease caused by structural lesions of the muscles,fascia,ligaments,and bursae near the greater trochanter of the femur.GTPS causes lateral hip joint pain,severely affecting patients' quality of life.Ultrasound has many advantages,such as real-time diagnosis,portable operation,non-radiation,and high resolution,demonstrating a high application value in the diagnosis and interventional therapy of GTPS.This article reviews the current status of ultrasound in the diagnosis and interventional therapy of GTPS and prospects its application.
Humans ; Ultrasonography ; Femur/diagnostic imaging* ; Hip Joint/diagnostic imaging* ; Arthralgia/therapy*

OBJECTIVE: To investigate the biocompatibility of porous WE43 magnesium alloy scaffolds manufactured by 3D printing technology and to observe its effect in treating femoral defects in New Zealand white rabbits. METHODS: In vitro cytotoxicity test was performed using bone marrow mesenchymal stem cells from Sprague Dawley (S-D) rats. According to the different culture media, the cells were divided into 100% extract group, 50% extract group, 10% extract group and control group. After culturing for 1, 3 and 7 days, the cell activity of each group was determined by cell counting kit-8 (CCK-8). In the in vivo experiment, 3.0-3.5 kg New Zealand white rabbits were randomly divided into three groups: Experimental group, bone cement group and blank group, with 9 rabbits in each group. Each rabbit underwent surgery on the left lateral femoral condyle, and a bone defect with a diameter of 5 mm and a depth of 6 mm was created using a bone drill. The experimental group was implanted with WE43 magnesium alloy scaffolds, the bone cement group was implanted with calcium sulfate bone cement, and the blank group was not implanted. Then 4, 8 and 12 weeks after surgery, 3 rabbits in each group were euthanized by carbon dioxide anesthesia, and the femur and important internal organs were sampled. Micro-computed tomography (Micro-CT) scanning was performed on the left lateral femoral condyle. Sections of important internal organs were prepared and stained with hematoxylin-eosin (HE). Hard tissue sections were made from the left lateral femoral condyle and stained with methylene blue acid fuchsin and observed under a microscope. RESULTS: In the cytotoxicity test, the cell survival rate in the 100% extract group was higher than that in the control group (140.56% vs. 100.00%, P < 0.05) on 1 day of culture; there was no statistically significant difference (P>0.05) in cell survival rate among the groups on 3 days of culture; the cell survival rate in the 100% extract group was lower than that in the control group (68.64% vs. 100.00%, P < 0.05) on 7 days of culture. Micro-CT scanning in the in vivo experiment found that most of the scaffolds in the experimental group had been degraded in 4 weeks, with very few high-density scaffolds remaining. In 12 weeks, there was no obvious stent outline. In 4 weeks, a certain amount of gas was generated around the WE43 magnesium alloy scaffold, and the gas was significantly reduced from 8 to 12 weeks. Hard tissue sections showed that a certain amount of extracellular matrix and osteoid were generated around the scaffolds in the experimental group in 4 weeks. In the bone cement group, most of the calcium sulfate bone cement had been degraded. In 8 weeks, the osteoid around the scaffold and its degradation products in the experimental group increased significantly. In 12 weeks, new bone was in contact with the scaffold around the scaffold in the experimental group. There was less new bone in the bone cement group and the blank group. CONCLUSION The porous WE43 magnesium alloy scaffold fabricated by 3D printing process has good biocompatibility and good osteogenic properties, and has the potential to become a new material for repairing bone defects.
Animals ; Rabbits ; Printing, Three-Dimensional ; Alloys/chemistry* ; Tissue Scaffolds/chemistry* ; Magnesium/chemistry* ; Rats, Sprague-Dawley ; Biocompatible Materials ; Mesenchymal Stem Cells/cytology* ; Femur/surgery* ; Rats ; Absorbable Implants ; Male ; Bone Regeneration ; Tissue Engineering/methods* ; Cells, Cultured