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

BACKGROUND: The correlation between the morphological structure of the patellofemoral joint (PFJ) and the severity of knee joint osteoarthritis (KOA) remains uncertain. This study aims to investigate the correlation between the severity of knee joint osteoarthritis and the alignment of patellofemoral and patellar height on radiographs. METHODS: This multi-center, retrospective study analyzed the magnetic resonance imaging (MRI) scans and anteroposterior radiographs of 534 adult outpatients with KOA. To evaluate the radiographic severity of KOA, anteroposterior radiographs of the knee and the Kellgren-Lawrence (K-L) grade were used. Knee MRI scans were used to measure the patellar length ratio (PLR), sulcus angle (SA), lateral patellar tilt angle (LPTA), and the distance between tibial tuberosity and trochlear groove (TT-TG). We examined the association between the configuration of the PFJ, arrangement, and harshness of the KOA. Information on participants' demographics, such as age, sex, side, height, and weight, was collected. A chi-squared test was used for the correlation of radiographic severity of KOA with sex and the affected side. Spearman correlation was used for patellofemoral alignment or morphology and the radiographic severity of lateral KOA. Multiple linear regression models were used for the association between LPTA, SA, TT-TG, and severity of KOA after accounting for demographic variables. RESULTS: The study comprised of 534 patients; of these, 339 (63%) were female. A total of 586 knees were evaluated in this study. Age showed a strong positive correlation with KOA severity ( r  = 0.516, P <0.01), whereas LPTA showed a strong negative correlation ( r  = -0.662, P <0.01). Additionally, SA ( r  = 0.616, P <0.05), and TT-TG showed a strong positive correlation ( r  = 0.770, P <0.01) with tibiofemoral osteoarthritis (TFOA) severity. Multiple linear regression analysis indicated that knee osteoarthritis severity (β = -2.946, P <0.001) and side (β = -0.839, P  = 0.001) was associated with LPTA; knee osteoarthritis severity (β = 5.032, P <0.001) and age (β = -0.095, P <0.001) was associated with SA; knee osteoarthritis severity (β = 2.445, P <0.001), sex (β = -0.326, P  = 0.041), body mass index (β = -0.061, P  = 0.017) and age (β = -0.025, P <0.001) was associated with TT-TG. CONCLUSION Radiographic severity of KOA was positively associated with age, SA, and TT-TG but negatively associated with LPTA.
Humans ; Female ; Male ; Osteoarthritis, Knee/pathology* ; Middle Aged ; Retrospective Studies ; Aged ; Patellofemoral Joint/pathology* ; Magnetic Resonance Imaging ; Adult ; Patella/pathology* ; Radiography

Steroid-induced osteonecrosis of femoral head (SONFH) is a disease characterized by femoral head collapse and local pain caused by excessive use of glucocorticoids. Peroxisome proliferator-activated receptor-γ (PPARγ) is mainly expressed in adipose tissue. Wnt/β-catenin, AMPK and other related signaling pathways play an important role in regulating adipocyte differentiation, fatty acid uptake and storage. Bone marrow mesenchymal cells (BMSCs) have the ability to differentiate into adipocytes or osteoblasts, and the use of hormones upregulates PPARγ expression, resulting in BMSCs biased towards adipogenic differentiation. The increase of adipocytes affects the blood supply and metabolism of the femoral head, and the decrease of osteoblasts leads to the loss of trabecular bone, which eventually leads to partial or total ischemic necrosis and collapse of the femoral head. MicroRNAs (miRNAs) are a class of short non-coding RNAs that regulate gene expression by inhibiting the transcription or translation of target genes, thereby affecting cell function and disease progression. Studies have shown that miRNAs affect the progression of SONFH by regulating PPARγ lipid metabolism-related signaling pathways. Therefore, it may be an accurate and feasible SONFH treatment strategy to regulate adipogenic-osteoblast differentiation in BMSCs by targeted intervention of miRNA differential expression to improve lipid metabolism. In this paper, the miRNA-mediated PPARγ-related signaling pathways were classified and summarized to clarify their effects on lipid metabolism in SONFH, providing a theoretical reference for miRNA targeted therapy of SONFH, and then providing scientific evidence for SONFH precision medicine.
MicroRNAs/physiology* ; PPAR gamma/metabolism* ; Femur Head Necrosis/metabolism* ; Humans ; Signal Transduction/physiology* ; Lipid Metabolism/physiology* ; Animals ; Cell Differentiation ; Mesenchymal Stem Cells/cytology* ; Glucocorticoids/adverse effects*

This study aims to investigate the pharmacological effects and mechanisms of Yougui Yin in treating glucocorticoid-induced osteonecrosis. A rat model of glucocorticoid-associated osteonecrosis of the femoral head(GA-ONFH) was established by intramuscular injection of dexamethasone at 20 mg·kg~(-1) every other day for 8 weeks. Rats were randomly allocated into control, model, and low-and high-dose(1.5 and 3.0 g·kg~(-1), respectively) Yougui Yin groups. After modeling, rats in Yougui Yin groups were administrated with Yougui Yin via gavage, which was followed by femoral specimen collection. Hematoxylin-eosin staining was employed to observe femoral head repair, and immunofluorescence was employed to assess adipogenic differentiation of bone marrow mesenchymal stem cells(BMSCs) within the femoral head. Cell experiments were carried out with dexamethasone(1 μmol·L~(-1))-treated BMSCs to evaluate the effects of Yougui Yin-medicated serum on adipogenic differentiation. Animal experiments demonstrated that compared with the model group, Yougui Yin at both high and low doses significantly improved bone mineral density(BMD), bone volume/total volume(BV/TV) ratio, and trabecular thickness(Tb.Th) in the femoral head. Additionally, Yougui Yin alleviated necrosis-like changes and adipocyte infiltration and significantly reduced the expression level of peroxisome proliferator-activated receptor γ(PPARγ) in the femoral head, thereby suppressing the adipogenic differentiation of BMSCs in GA-ONFH rats. The cell experiments revealed that Yougui Yin-medicated serum markedly inhibited dexamethasone-induced adipogenic differentiation of BMSCs and down-regulated the level of PPARγ. The overexpression of PPARγ attenuated the inhibitory effect of Yougui Yin-medicated serum on the adipogenic differentiation of BMSCs, indicating the critical role of PPARγ in Yougui Yin-mediated suppression of adipogenic differentiation of BMSCs. In conclusion, Yougui Yin exerts therapeutic effects on glucocorticoid-induced osteonecrosis by down-regulating PPARγ expression and inhibiting adipogenic differentiation of BMSCs.
Animals ; Mesenchymal Stem Cells/metabolism* ; PPAR gamma/genetics* ; Rats ; Drugs, Chinese Herbal/administration & dosage* ; Male ; Glucocorticoids/adverse effects* ; Rats, Sprague-Dawley ; Adipogenesis/drug effects* ; Osteonecrosis/genetics* ; Cell Differentiation/drug effects* ; Bone Marrow Cells/metabolism* ; Femur Head Necrosis/chemically induced* ; Humans

Prosthesis loosening is the leading cause of postoperative revision in unicompartmental knee arthroplasty (UKA). The deviation of medial and lateral translational installation of the prosthesis during surgery is a common clinical phenomenon and an important factor in increasing the risk of prosthesis loosening. This study established a UKA finite element model and a bone-prosthesis fixation interface micromotion prediction model. The predicted medial contact force and joint motion of the knee joint from a patient-specific lower extremity musculoskeletal multibody dynamics model of UKA were used as boundary conditions. The effects of 9 femoral component medial and lateral translational installation deviations on the Von Mises stress of the proximal tibia, the contact stress, and the micro-motion of the bone prosthesis fixation interface were quantitatively studied. It was found that compared with the neutral position (a/A of 0.492), the lateral translational deviation of the femoral component significantly increased the tibial Von Mises stress and the bone-prosthesis fixation interface contact stress. The maximum Von Mises stress and the maximum contact stress of the fixation interface increased by 14.08% and 143.15%, respectively, when a/A was 0.361. The medial translational deviation of the femoral component significantly increased the bone-prosthesis fixation interface micro-motion. The maximum value of micromotion under the conditions of femoral neutral and medial translation deviation was in the range of 20-50 μm, which is suitable for osseointegration. Therefore, based on considerations such as the micromotion range suitable for osseointegration reported in the literature, the risk of reducing prosthesis loosening, and factors that may induce pain, it is recommended that clinicians control the mounting position of the femoral component during surgery within the safe range of 0-4 mm medial translation deviation.
Humans ; Arthroplasty, Replacement, Knee/methods* ; Finite Element Analysis ; Biomechanical Phenomena ; Knee Prosthesis ; Tibia/surgery* ; Femur/surgery* ; Stress, Mechanical ; Prosthesis Failure ; Knee Joint/surgery* ; Prosthesis Design

Although metal blocks have been widely used for reconstructing uncontained tibial bone defects, the influence of their elastic modulus on the stability of tibial prosthesis fixation remains unclear. Based on this, a finite element model incorporating constrained condylar knee (CCK) prosthesis, tibia, and metal block was established. Considering the influence of the post-restraint structure of the prosthesis, the effects of variations in the elastic modulus of the block on the von Mises stress distribution in the tibia and the block, as well as on the micromotion at the bone-prosthesis fixation interface, were investigated. Results demonstrated that collision between the insert post and femoral prosthesis during tibial internal rotation increased tibial von Mises stress, significantly influencing the prediction of block elastic modulus variation. A decrease in the elastic modulus of the metal block resulted in increased von Mises stress in the proximal tibia, significantly reduced von Mises stress in the distal tibia, decreased von Mises stress of the block, and increased micromotion at the bone-prosthesis fixation interface. When the elastic modulus of the metal block fell below that of bone cement, inadequate block support substantially increased the risk of stress shielding in the distal tibia and fixation interface loosening. Therefore, this study recommends that biomechanical investigations of CCK prostheses must consider the post-constraint effect, and the elastic modulus of metal blocks for bone reconstruction should not be lower than 3 600 MPa.
Knee Prosthesis ; Humans ; Finite Element Analysis ; Tibia/surgery* ; Elastic Modulus ; Arthroplasty, Replacement, Knee/methods* ; Stress, Mechanical ; Metals ; Prosthesis Design ; Knee Joint/surgery* ; Biomechanical Phenomena

OBJECTIVE: To investigate the effectiveness of modified single patellar tunnel medial patella femoral ligament (MPFL) reconstruction in the treatment of recurrent patellar dislocation. METHODS: Between January 2023 and June 2023, a total of 61 patients with recurrent patellar dislocation who underwent MPFL reconstruction with autologous semitendinosus were enrolled and divided into 2 groups using random number table method. In the patellar anchor group, 31 patients were treated with MPFL reconstruction with double medial patellar anchors, and 30 patients in the patellar tunnel group were treated with MPFL reconstruction with single patellar tunnel. The femoral ends of both groups were fixed with absorbable compression screws. There was no significant difference in baseline data such as gender, age, side, tibial tubercle-trochlear groove (TT-TG), Q angle, Caton-Deschamps index, number of dislocation, and preoperative Kujala score, preoperative patellar inclination angle ( P>0.05). Patellar tunnel, patellar anchor position, patellar reduction, and the patellar inclination angle were measured by CT scan after operation. Kujala score was used to evaluate the function of knee joint before operation, at 2 weeks and 1, 3, 6, 12 months after operation. Incision aesthetic satisfaction score was performed at 3 months after operation. The signal-to-noise quotient (SNQ) of the transplanted tendon was measured by knee MRI at 12 months after operation to compare the maturity of the graft between the two groups. RESULTS: There was no significant difference in operation time and intraoperative blood loss between the two groups ( P>0.05). Knee CT reexamination showed that the patellar tunnel and the patellar anchor position were consistent with the intraoperative fluoroscopy. There was no significant difference in the difference of the patellar inclination angle between the two groups before and after operation ( P>0.05). All patients were followed up 12-14 months (mean, 12.8 months). There was 1 case of patellar anchor suture rejection in patellar anchor group, and the wound healed after debridement and dressing change. During the follow-up, there was no complication such as recurrence of patellar dislocation, infection and postoperative stiffness. The Kujala scores of the two groups significantly improved at each time point after 1 month of operation when compared with those before operation ( P<0.05), and the Kujala scores of the two groups returned to normal levels at 3 months after operation. The Kujala score in the patellar tunnel group was significantly higher than that in the patellar anchor group in the very early stage (2 weeks) ( P<0.05), and there was no significant difference between the two groups at other time points ( P>0.05). Patients in the patellar tunnel group were significantly better than those in the patellar anchor group in the score of incision aesthetic satisfaction at 3 months after operation and the SNQ at 12 months after operation ( P<0.05). CONCLUSION Modified single patellar tunnel MPFL reconstruction was used to treat patients with recurrent patellar dislocation without pathological TT-TG. The slide-fixation structure formed by single patellar tunnel positioning provides a variable degree of freedom for the reconstructed MPFL, which shows good effectiveness in the very early stage of the rehabilitation process.
Humans ; Patellar Dislocation/surgery* ; Male ; Female ; Plastic Surgery Procedures/methods* ; Adult ; Patellar Ligament/surgery* ; Recurrence ; Treatment Outcome ; Young Adult ; Adolescent ; Patella/surgery* ; Suture Anchors ; Hamstring Tendons/transplantation* ; Knee Joint/surgery* ; Transplantation, Autologous

OBJECTIVE: To explore the feasibility and effectiveness of suture anchor double-pulley technique combined with suture three-dimensional binding via bone tunnel technique for avulsion fractures of the inferior pole of the patella. METHODS: A clinical data of 38 patients with avulsion fractures of the inferior pole of the patella, who met the selective criteria and were admitted between September 2021 and April 2023, was retrospectively analyzed. The fractures were treated with suture anchor double-pulley technique combined with suture three-dimensional binding via bone tunnel technique in 18 cases (group A) and steel wire tension-band fixation in 20 cases (group B). There was no significant difference in terms of age, gender, cause of fracture, side of fracture, and disease duration between the two groups ( P>0.05). The length of incision, operation time, occurrence of complications, the range of motion of knee joint, and Böstman score of knee joint at last follow-up were recorded. The fracture healing was evaluated through X-ray films and the time of fracture healing was recorded. RESULTS: All incisions healed by first intention. The length of incision was significantly shorter in group A than in group B ( P<0.05). There was no significant difference in the operation time between the two groups ( P>0.05). All patients were followed up 12-24 months (mean, 16.1 months). X-ray films showed that all fractures healed and there was no significant difference in the healing time between the two groups ( P>0.05). At last follow-up, the range of motion and Böstman score of the knee joint in group A were significantly better than those in group B ( P<0.05). During follow-up, 1 patient (5.6%) in group A had one anchor mild prolapse and 3 patients (15.0%) occured internal fixation irritation in group B. But there was no significant difference in the incidence of complications between the two groups ( P>0.05). CONCLUSION For the avulsion fractures of the inferior pole of the patella, the suture anchor double-pulley technique combined with suture three-dimensional binding via bone tunnel technique has advantages of reliable fixation, small incision, avoidance of secondary operation to remove internal fixator, and fewer complications, with definite effectiveness.
Humans ; Male ; Female ; Patella/surgery* ; Suture Anchors ; Fracture Fixation, Internal/instrumentation* ; Adult ; Retrospective Studies ; Middle Aged ; Fractures, Avulsion/surgery* ; Treatment Outcome ; Young Adult ; Range of Motion, Articular ; Fracture Healing ; Adolescent ; Suture Techniques ; Knee Joint/physiopathology*

OBJECTIVE: To measure and analyze the relationships among the posterior tibial slope (PTS), meniscal slope (MS), and meniscus posterior horn thickness (MPHT) of the medial and lateral tibial plateau in healthy people and patients with anteromedial osteoarthritis (AMOA) in Heilongjiang province, so as to provide reference basis for appropriate tibial osteotomy and prosthesis placement angles in knee joint surgeries. METHODS: A retrospective collection of imaging data from knee joint MRI examinations conducted prior to AMOA for various reasons was performed. A total of 103 healthy individuals (healthy group) and 30 AMOA patients (AMOA group) were included. There was no significant difference in the gender composition ratio, side, and body mass index between the two groups ( P>0.05); however, the comparison of ages between the two groups showed a significant difference ( P<0.05). The collected DICOM format image data was imported into the RadiAnt DICOM Viewer software and measured the medial PTS (MPTS), lateral PTS (LPTS), medial MS (MMS), lateral MS (LMS), medial MPHT (MMPHT), and lateral MPHT (LMPHT) with standard methods. The differences of the above indexes between the two groups and between different genders and sides in the two groups were compared, and Pearson correlation analysis was carried out. At the same time, the measured data of healthy group were compared with the relevant literature reported in the past. RESULTS: Compared to the healthy group, the AMOA group exhibited significantly smaller MPTS and LPTS, as well as significantly greater MMPHT and LMPHT, with significant differences ( P<0.05). However, there was no significant difference in the MMS and LMS between the two groups ( P>0.05). The differences in various indicators between genders and sides within the two groups were not significant ( P>0.05). The correlation analysis and regression curves indicated that both MPTS and LPTS in the two groups were positively correlated with their respective ipsilateral MS and MPHT ( P<0.05); as PTS increased, the rate of increase in MS and MPHT tend to plateau. Compared to previous related studies, the MPTS and LPTS measured in healthy group were comparable to those of the Turkish population, exhibiting smaller values than those reported in other studies, while MMS and LMS were relatively larger, and MMPHT and LMPHT were smaller. CONCLUSION In healthy people and AMOA patients in Heilongjiang province, PTS has great individual differences, but there is no significant individual difference in MS. MPHT can play a certain role in retroversion compensation, and its thickness increase may be used as one of the indicators to predict the progression of AMOA. The above factors should be taken into account when UKA is performed, and the posterior tilt angle of tibial osteotomy should be set reasonably after preoperative examination and evaluation.
Humans ; Osteoarthritis, Knee/surgery* ; Retrospective Studies ; Tibia/pathology* ; Male ; Female ; Adult ; Menisci, Tibial/anatomy & histology* ; China ; Knee Joint/pathology* ; Magnetic Resonance Imaging ; Middle Aged ; Aged ; Osteotomy

OBJECTIVE: To investigate the effectiveness of posterior lateral perforator flap in lower limb combined with free fibula for maxillary tissue defect repair. METHODS: Between December 2018 and December 2023, 16 patients with the maxillary malignant tumors were admitted. There were 10 males and 6 females, with an average age of 64.3 years (range, 54-75 years). There were 7 cases of maxillary gingival cancer, 5 cases of hard palate cancer, and 4 cases of maxillary sinus cancer. According to the 2017 American Joint Committee on Cancer (AJCC) TNM stage, there were 8 cases of stage Ⅲ, 6 cases of stage Ⅳa, and 2 cases of stage Ⅳb. After resection of the lesion, the remaining maxillary defects were classified into class Ⅱa in 3 cases, class Ⅱb in 5 cases, and class Ⅲb in 8 cases according to Brown's classification. The size of soft tissue defects ranged from 4 cm×3 cm to 8 cm×6 cm. The posterior lateral perforator flap in lower limb in size of 5 cm×4 cm-9 cm×7 cm were harvested to repair soft tissue defects, and free fibula in length of 6-11 cm were used to repair bone defects. The donor sites of the lower limb were sutured directly (6 cases) or repaired with free skin grafting (10 cases). Six patients with positive lymph node pathology were treated with radiotherapy after operation. At 6 and 12 months after operation, the self-assessment was performed by the University of Washington Quality of Survival Questionnaire Form (QUW-4) in five dimensions (facial appearance, swallowing function, chewing function, speech function, and mouth opening), and swallowing function was evaluated by using the Kubota water swallowing test. RESULTS: Postoperative pathological examination showed that all patients were squamous cell carcinoma. One patient who was treated with radiotherapy developed osteomyelitis and 1 patient developed venous crisis of skin flap. The rest of the flaps and all skin grafts survived, and the wounds healed by first intention. All patients were followed up 1-5 years (mean, 2.8 years). Two patients died of local recurrence of the tumor at the 4th and 5th years after operation, respectively. Except for the chewing function score and total score at 6 months after operation, which showed significant differences compared to preoperative scores ( P<0.05), there was no significant difference in other QUW-4 scale scores between different time points ( P>0.05). The patients' swallowing function evaluated by Kubota water swallowing test reached normal in 4 cases, suspicious in 9 cases, and abnormal in 3 cases at 6 months after operation, and 10, 6, and 0 cases at 12 months after operation, respectively. The swallowing function at 12 months was significantly better than that at 6 months ( Z=-2.382, P=0.017). CONCLUSION The posterior lateral perforator flap in the lower limb combined with free fibula to repair maxillary tissue defects can repair soft and hard tissue defects at the same time, so that the patient's facial appearance, swallowing function, chewing function, speech function, and mouth opening are satisfactorily restored and the mid-term effectiveness is good.
Humans ; Middle Aged ; Male ; Female ; Fibula/surgery* ; Aged ; Perforator Flap ; Plastic Surgery Procedures/methods* ; Maxilla/surgery* ; Maxillary Neoplasms/surgery* ; Free Tissue Flaps/transplantation* ; Lower Extremity/surgery* ; Bone Transplantation/methods* ; Treatment Outcome