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UNASSIGNED: Developmental Dysplasia of the Hip (DDH) is a skeletal disorder where late-presenting forms often escape early diagnosis, leading to limb and pain in adults. The genetic basis of DDH is not fully understood despite known genetic predispositions.
UNASSIGNED: We employed Whole Genome Sequencing (WGS) to explore the genetic factors in late-presenting DDH in two unrelated families, supported by phenotypic analyses and in vitro validation.
UNASSIGNED: In both cases, a novel de novo heterozygous missense mutation in RAF1 (c.193A>G [p.Lys65Glu]) was identified. This mutation impacted RAF1 protein structure and function, altering downstream signaling in the Ras/ERK pathway, as demonstrated by bioinformatics, molecular dynamics simulations, and in vitro validations.
UNASSIGNED: This study contributes to our understanding of the genetic factors involved in DDH by identifying a novel mutation in RAF1. The identification of the RAF1 mutation suggests a possible involvement of the Ras/ERK pathway in the pathogenesis of late-presenting DDH, indicating its potential role in skeletal development.

BACKGROUND: In traditional surgical procedures, significant discrepancies are often observed between the pre-planned templated implant sizes and the actual sizes used, particularly in patients with congenital hip dysplasia. These discrepancies arise not only in preoperative planning but also in the precision of implant placement, especially concerning the acetabular component. Our study aims to enhance the accuracy of implant placement during Total Hip Arthroplasty (THA) by integrating AI-enhanced preoperative planning with Patient-Specific Instrumentation (PSI). We also seek to assess the accuracy and clinical outcomes of the AI-PSI (AIPSI) group in comparison to a manual control group.
METHODS: This study included 60 patients diagnosed with congenital hip dysplasia, randomly assigned to either the AIPSI or manual group, with 30 patients in each. No significant demographic differences between were noted the two groups. A direct anterior surgical approach was employed. Postoperative assessments included X-rays and CT scans to measure parameters such as the acetabular cup anteversion angle, acetabular cup inclination angle, femoral stem anteversion angle, femoral offset, and leg length discrepancy. Functional scores were recorded at 3 days, 1 week, 4 weeks, and 12 weeks post-surgery. Data analysis was conducted using SPSS version 22.0, with the significance level was set at α = 0.05.
CONCLUSIONS: The AIPSI group demonstrated greater prosthesis placement accuracy. With the aid of PSI, AI-planned THA surgery provides surgeons with enhanced precision in prosthesis positioning. This approach potentially offers greater insights and guidelines for managing more complex anatomical variations or cases.

UNASSIGNED: This study aims to demonstrate the use of the cartilaginous to osseous acetabular angle ratio (AAR) in surgical decision-making for hip dysplasia.
UNASSIGNED: Data were collected from patients who underwent an MRI of the hip after conservative treatment for developmental dysplasia of the hip between August 2019 and 2022. The data included demographic information as well as an anteroposterior pelvic radiograph. The osseous acetabular index (OAI) was measured using x-ray, while the cartilaginous acetabular index (CAI) and the cartilaginous acetabulum head index (CAHI) were measured using MRI. The square of the CAI to OAI, AAR, was calculated. The patients in the residual hip dysplasia (RHD) group were categorized as having an OAI above 20°. During the postoperative follow-up, we evaluated the patients in this group who underwent Bernese triple pelvic osteotomy. Data on surgical patients with an observation period that exceeded 1 year were collected and analyzed. The distribution of the AAR among the different groups was analyzed. A receiver operating characteristic (ROC) predictive model was constructed using the AAR of the patients in the normal and surgical groups to evaluate the need for surgery.
UNASSIGNED: It was found that there was a significant difference in the OAI, CAI, CAHI, and AAR between the RHD group (OAI 26.15 ± 3.90°, CAI 11.71 ± 4.70°, CAHI 79.75 ± 6.27%, and AAR 5.88 ± 4.24) and the control group patients (OAI 16.77 ± 5.39°, CAI 6.16 ± 3.13°, CAHI 85.05 ± 4.91%, and AAR 2.71 ± 2.08) (p < 0.001). A total of 93.5% of the control group patients had an AAR ≤5, while only 6.5% had an AAR >5. The results of postoperative imaging follow-up were \"excellent\" in 52 patients and \"good\" in 3, while the functional follow-up results were excellent in 53 and good in 2. In 15 patients, the observation period exceeded 1 year. The mean observation period was 633.1 ± 259.6 days and the preoperative CAHI was 71.7 ± 4.8%. Of the patients with an AAR >5, a substantial 94.8% (55/58) of them were reported to have undergone surgery, while all patients with an AAR less than or equal to 5 did not undergo surgery (91/91). Based on the ROC, a cutoff value of 5.09 was identified for the need for surgery in children with RHD.
UNASSIGNED: A surgical decision for residual hip dysplasia can be based on the AAR. An AAR >5 may be a potential indicator for surgical intervention in patients with RHD.

BACKGROUND: Low back pain (LBP) from hip and spinal disorders has been one of the main reasons for visiting physicians in patients with developmental dysplasia of the hip (DDH). It is essential to identify the LBP improvement among all grades of DDH patients treated with total hip arthroplasty (THA) at 5-year follow-up.
METHODS: The study included 407 hips of 306 patients (38 males, 268 females) who underwent THA between July 2007 and December 2016. There were 65 hips in Crowe I, 61 hips in Crowe II, 69 hips in Crowe III, and 212 hips in Crowe IV. One hundred and fourteen hips received subtrochanteric shortening. Patients included 101 bilateral THA (BTHA) and 205 unilateral THA (UTHA). The evaluation was performed through Back Pain Function Scale (BPFS), Harris hip score, Visual Analogue Scale (VAS), operative data and radiographic examinations.
RESULTS: The BPFS in patients of unilateral Crowe III and IV relieved significantly more (p < 0.05). However, the BPFS in patients with bilateral symmetry DDH hips relieved significantly less than other groups of DDH hips (p < 0.05). Harris in hips of Crowe II improved significantly more (p < 0.05). The VAS in hips of Crowe II and III improved significantly more (p < 0.05). The unilateral THA surgical time, blood loss, blood transfusion, and osteotomy number and length in Crowe IV were significantly more (p < 0.05).
CONCLUSIONS: THA is reliable to relieve LBP in DDH patients of unilateral Crowe III and IV; however, in patients with unilateral Crowe I, Crowe II, and bilateral DDH hips, the LBP improvements were limited. This should assist shared decision-making between orthopedic surgeons and patients.
METHODS: Therapeutic Level II. See Instructions for Authors for a complete description of levels of evidence.

Prosthesis loosening after THA is a rather common complication. For DDH patients with Crowe IV, the surgical risk and complexity is significant. THA with S-ROM prosthesis combined with subtrochanteric osteotomy is a common treatment. However, loosening of a modular femoral prosthesis (S-rom) is uncommon in THA and has a very low incidence. With modular prostheses distal prosthesis looseness are rarely reported. Non-union osteotomy is a common complication of subtrochanteric osteotomy. We report three patients with Crowe IV DDH who developed prosthesis loosening following THA with an S-ROM prosthesis and subtrochanteric osteotomy. We addressed the management of these patients and prosthesis loosening as likely underlying causes.

UNASSIGNED: To construct an artificial intelligence system to measure acetabular index and evaluate its accuracy in clinical application.
UNASSIGNED: A total of 10,219 standard anteroposterior pelvic radiographs were collected retrospectively from April 2014 to December 2018 in our hospital. Of these, 9,219 radiographs were randomly selected to train and verify the system. The remaining 1,000 radiographs were used to compare the system\'s and the clinicians\' measurement results. All plain pelvic films were labeled by an expert committee through PACS system based on a uniform standard to measure acetabular index. Subsequently, eight other clinicians independently measured the acetabular index from 200 randomly selected radiographs from the test radiographs. Bland-Altman test was used for consistency analysis between the system and clinician measurements.
UNASSIGNED: The test set included 1,000 cases (2,000 hips). Compared with the expert committee measurement, the 95% limits of agreement (95% LOA) of the system was -4.02° to 3.45° (bias = -0.27°, P < 0.05). The acetabular index measured by the system within all age groups, including normal and abnormal groups, also showed good credibility according to the Bland-Altman principle. Comparison of the measurement evaluations by the system and eight clinicians vs. that of, the expert committee, the 95% LOA of the clinician with the smallest measurement error was -2.76° to 2.56° (bias = -0.10°, P = 0.126). The 95% LOA of the system was -0.93° to 2.86° (bias = -0.03°, P = 0.647). The 95% LOA of the clinician with the largest measurement error was -3.41° to 4.25° (bias = 0.42°, P < 0.05). The measurement error of the system was only greater than that of a senior clinician.
UNASSIGNED: The newly constructed artificial intelligence system could quickly and accurately measure the acetabular index of standard anteroposterior pelvic radiographs. There is good data consistency between the system in measuring standard anteroposterior pelvic radiographs. The accuracy of the system is closer to that of senior clinicians.

BACKGROUND: Developmental dysplasia of the hip (DDH) is a complex developmental deformity whose pathogenesis and susceptibility-related genes have yet to be elucidated. This systematic review summarizes the current literature on DDH-related gene mutations, animal model experiments, and epigenetic changes in DDH.
METHODS: We performed a comprehensive search of relevant documents in the Medline, Scopus, Cochrane, and ScienceDirect databases covering the period from October 1991 to October 2021. We analyzed basic information on the included studies and summarized the DDH-related mutation sites, animal model experiments, and epigenetic changes associated with DDH.
RESULTS: A total of 63 studies were included in the analysis, of which 54 dealt with the detection of gene mutations, 7 presented details of animal experiments, and 6 were epigenetic studies. No genetic mutations were clearly related to the pathogenesis of DDH, including the most frequently studied genes on chromosomes 1, 17, and 20. Most gene-related studies were performed in Han Chinese or North American populations, and the quality of these studies was medium or low. GDF5 was examined in the greatest number of studies, and mutation sites with odds ratios > 10 were located on chromosomes 3, 9, and 13. Six mutations were found in animal experiments (i.e., CX3CR1, GDF5, PAPPA2, TENM3, UFSP2, and WISP3). Epigenetics research on DDH has focused on GDF5 promoter methylation, three microRNAs (miRNAs), and long noncoding RNAs. In addition, there was also a genetic test for miRNA and mRNA sequencing.
CONCLUSIONS: DDH is a complex joint deformity with a considerable genetic component whose early diagnosis is significant for preventing disease. At present, no genes clearly involved in the pathogenesis of DDH have been identified. Research on mutations associated with this condition is progressing in the direction of in vivo experiments in animal models to identify DDH susceptibility genes and epigenetics analyses to provide novel insights into its pathogenesis. In the future, genetic profiling may improve matters.

Six Gram-stain-positive, aerobic or facultative anaerobic, catalase-positive, urease- and oxidase-negative, rod-shaped bacteria (zg-ZUI157T/zg-ZUI40, zg-ZUI222T/zg-ZUI199 and zg-ZUI188T/ zg-ZUI168) were characterized by a polyphasic approach. Optimal growth of the six strains was observed at pH 7.0 and 28 °C. Phylogenetic analyses based on the 16S rRNA gene and 247 core genes revealed that they belong to genus Cellulomonas. The three type strains have low digital DNA-DNA hybridization (19.3-30.1%) and average nucleotide identity values (78.0-85.5%) with all available genomes in the genus Cellulomonas, and a DNA G+C content range of 73.0-74.6 mol%. The major fatty acids detected in strain pairs zg-ZUI157T/zg-ZUI40 and zg-ZUI 222T/zg-ZUI199 were C16:0, anteiso-C15:0 and anteiso A-C15:1, and C16:0, anteiso-C15:0, anteiso A-C15:1 and anteiso-C17:0 in strain pair zg-ZUI188T/zg-ZUI168. Diphosphatidylglycerol, phosphatidylglycerol and phosphatidylinositol mannosides were the major polar lipids detected in the three novel species. MK-9(H4) was the predominant quinone detected in strains zg-ZUI222T (87.4 %) and zg-ZUI188T (91.4 %), and MK-9(H4) (49.1 %) and MK-8 (43.4 %) in strain zg-ZUI157T. The cell-wall sugars detected in the three novel species mainly contained rhamnose. The cell-wall peptidoglycan type of the three novel species was A4β, with an inferred l-Orn-d-Asp interpeptide bridge for strains zg-ZUI157T and zg-ZUI222T, and l-Orn-d-Glu for strain zg-ZUI188T. Based on the results of the phenotypic, phylogenetic, genomic hybridization, average nucleotide identity and chemotaxonomic analyses, the six strains should be classified as belonging to three novel Cellulomonas species, for which the names Cellulomonas dongxiuzhuiae sp. nov. (zg-ZUI157T=GDMCC 1.2559T=KCTC 49678T), Cellulomonas wangleii sp. nov. (zg-ZUI222T=GDMCC 1.2501T=KCTC 49675T) and Cellulomonas fengjieae sp. nov. (zg-ZUI188T=GDMCC 1.2563T=KCTC 49674T) are proposed.

OBJECTIVE: To explore the role of WNT family member 1 (WNT1) in the development of dysplasia of the hip (DDH) and the molecular mechanism involved in this process. Methods: Si-WNT1, pcDNA3.1-WNT1 or corresponding negative controls were transfected into human osteoblast hFOB1.19 and human chondrocyte C28/I2, respectively. The proliferation of cells was measured by EdU assay. The relative expressions of human noggin gene (NOG), growth differentiating factor 5 (GDF5), WNT1, and WNT1-inducible-signaling pathway protein 2 (WISP2) were determined by immunofluorescence analysis. The protein expressions of RNA-binding protein of multiple splice forms 2 (RBPMS2), NOG, bone morphogenetic protein 2 (BMP2), BMP4, WNT1 and WISP2 were determined by western blot. Animal experiment was also performed and the morphological development of hip joint was observed. Results: Overexpression of WNT1 promoted osteoblast proliferation and inhibited chondrocyte proliferation, while knockdown of WNT1 inhibited osteoblast proliferation. In chondrocytes, knockdown of WNT1 upregulated NOG expression, while overexpression of WNT1 downregulated its expression. In osteoblasts and chondrocytes, overexpression of WNT1 increased BMP2, BMP4, WNT1, and WISP2 expression. RBPMS2 and NOG were slightly expressed in each group. Conclusion: Overexpression of WNT1 promoted osteoblast proliferation, inhibited chondrocyte proliferation, and increased the expressions of BMP2, BMP4, WNT1, and WISP2. Therefore, WNT1 may be a new therapeutic target for DDH.