A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report.

Background: Bruck syndrome (BS) is an extremely rare autosomal-recessive connective tissue disorder mainly characterized by bone fragility, congenital joint contracture, and spinal deformity. It is also considered as a rare form of osteogenesis imperfecta (OI) due to features of osteopenia and fragility fractures. Its two forms, BS1 and BS2, are caused by pathogenic variations in FKBP10 and PLOD2, respectively. Objective: We aimed to improve the clinical understanding of BS by presenting a case from China and to identify the genetic variants that led to this case. Methods: OI was suspected in a Chinese boy with a history of recurrent long bone fractures, lumbar kyphosis, and dentinogenesis imperfecta (DI). Whole-exome sequencing (WES) was performed to identify pathogenic variations. Sanger sequencing was used to confirm the results of the WES. In silico analysis was used to predict the pathogenicity of genetic variants. Results: WES and Sanger sequencing revealed a compound heterozygous variation in the FKBP10 gene (NM_021939, c.23dupG in exon 1, and c.825dupC in exon 5). Both variants resulted in a frameshift and premature stop codon. Of these two variants, c.23dupG has not been previously reported. The patient's parents were heterozygous carriers of one variant. In addition, zoledronic acid treatment improved the vertebral deformity and bone mineral density (BMD) significantly in this patient. Conclusions: A novel compound heterozygous variation of FKBP10, c.23dupG/c.825dupC, was identified in a patient with moderately severe OI. Based on these findings, the patient was diagnosed with BS1 without congenital joint contractures or OI type XI. This study expands the spectrum of FKBP10 genetic variants that cause BS and OI.

Treatment and Outcome of Supracondylar Humeral Fractures in Children Over 10 Years of Age at the Time of Injury: A Review of 60 Cases.

OBJECTIVES: To assess the treatment and outcomes of supracondylar humeral fractures (SHFs) in children older than 10 years of age at the time of injury. METHODS: The study analyzed clinical data from 60 patients who sustained SHF, all over the age of 10 years, were analyzed. The patients included 49 males and 11 females with a mean age of 10.9 ± 0.9 years (range, 10 to 14.5). All patients underwent surgical treatment under general anesthesia. Closed reduction (CR) and percutaneous fixation were the primary treatment, with open reduction and internal fixation being employed only in cases CR was unsuccessful. The study assessed the healing of fractures by measuring the radiographic angles, including the carrying angle (RCA), Baumann's angle (BA), and metaphyseal-diaphyseal angle (MDA) on anteroposterior radiographs of the elbow joint. In addition, the study evaluated whether the anterior humeral line (AHL) appropriately passed through the middle third of the capitellum. The final follow-up visit used the Mayo Elbow Performance Index score (MEPI) and Flynn's criteria to analyze the recovery of elbow function. RESULTS: There were 15 (25%) SHF type II, 17 (28.3%) type III and 28 (46.7%) type IV. Of the 60 patients, 56 (93.3%) underwent successful CR, whereas 4 (6.7%) required open reduction and internal fixation because of an unsuccessful CR. The final follow-up showed the average BA as 72° ± 5.3°, the average MDA as 88.3° ± 2.8°, and the average RCA as 9.6° ± 3.9°. The AHL bisected accurately the capitellum in 59 cases (98.3%). The average range of elbow flexion-extension was 146.6° ± 8.6°, whereas the average MEPI score was 99.9 ± 0.6; 98.3% (n=59) were rated as excellent and 1.7% (n=1) were rated as good. According to Flynn's criteria, 86.7% had an excellent outcome (n=52), 10% had a good outcome (n=6), and 3.3% had a poor outcome (n=2). Only 1 patient (1.7%) experienced redisplacement. Eight cases of nerve injury were reported, with 7 involving the radial nerve and 1 involving the ulnar nerve; all resolved spontaneously. CONCLUSIONS: CR and percutaneous fixation have been shown to be effective in treating SHF in 93.3% of children aged 10 years old and older at the time of injury, with favorable radiographic and functional outcomes and a low risk of secondary displacement. Open reduction should only be considered when CR is ineffective.

The Relationship Between Resilience, Interactive Distance, and College Students' Online Mathematics Learning Engagement: A Longitudinal Study.

Introduction: Resilience, a pivotal construct in positive psychology, remains incompletely understood in its facilitation of learners' online engagement. This study aims to investigate the relationship between resilience, transactional distance, and Online Mathematics Learning Engagement (OMLE) among first-year university students. Methods: Utilizing a cross-lagged path analysis approach, the study surveyed 612 first-year students. Multiple models were constructed and compared to explore the mutual predictive relationships between resilience, transactional distance, and OMLE. Results: Among the compared models, Model 4 demonstrated the best fit. The model revealed that: (1) resilience at Time 1 and Time 2 positively predicted transactional distance at Time 2 and Time 3; (2) transactional distance at Time 1 and Time 2 positively predicted OMLE at Time 2 and Time 3; (3) resilience at Time 1 significantly predicted OMLE at Time 3; and (4) transactional distance at Time 2 fully mediated the relationship between resilience at Time 1 and OMLE at Time 3. Furthermore, mediational model analysis confirmed that transactional distance played a mediating role in the longitudinal relationship between resilience and OMLE. Using a cross-lagged mediational model with 5000 bootstrap samples, the indirect effect of transactional distance on the relationship between resilience at Time 1 and OMLE at Time 3 was significant and remained stable over time. Discussion: The findings suggest that resilience, as a positive psychological resource, stimulates students to seek and utilize protective resources in online environments, leading to more active participation in interpersonal communication and classroom interactions. Additionally, resilience helps students overcome emotional and practical difficulties encountered in online learning, thereby enhancing their OMLE. These insights offer valuable implications for educators, highlighting the potential to improve students' online learning engagement by fostering their psychological resilience.

Tolerant and Rapid Endochondral Bone Regeneration Using Framework-Enhanced 3D Biomineralized Matrix Hydrogels.

Tissue-engineered bone has emerged as a promising alternative for bone defect repair due to the advantages of regenerative bone healing and physiological functional reconstruction. However, there is very limited breakthrough in achieving favorable bone regeneration due to the harsh osteogenic microenvironment after bone injury, especially the avascular and hypoxic conditions. Inspired by the bone developmental mode of endochondral ossification, a novel strategy is proposed for tolerant and rapid endochondral bone regeneration using framework-enhanced 3D biomineralized matrix hydrogels. First, it is meticulously designed 3D biomimetic hydrogels with both hypoxic and osteoinductive microenvironment, and then integrated 3D-printed polycaprolactone framework to improve their mechanical strength and structural fidelity. The inherent hypoxic 3D matrix microenvironment effectively activates bone marrow mesenchymal stem cells self-regulation for early-stage chondrogenesis via TGFß/Smad signaling pathway due to the obstacle of aerobic respiration. Meanwhile, the strong biomineralized microenvironment, created by a hybrid formulation of native-constitute osteogenic inorganic salts, can synergistically regulate both bone mineralization and osteoclastic differentiation, and thus accelerate the late-stage bone maturation. Furthermore, both in vivo ectopic osteogenesis and in situ skull defect repair successfully verified the high efficiency and mechanical maintenance of endochondral bone regeneration mode, which offers a promising treatment for craniofacial bone defect repair.

A case report of anterior mediastinal angiomyolipoma that invaded the left thoracic cavity.

RATIONALE: Angiomyolipoma is a mesenchymal tumor composed of blood vessels, smooth muscle, and mature adipose tissue. It is most commonly found in the kidney, and is rare outside the kidney, especially in the mediastinum. Only about 12 cases have been reported worldwide so far. PATIENT CONCERNS: We report a young female patient who had been found with a left thoracic mass for 19 years. In the past 19 years, the patient had no chest pain, dyspnea and other symptoms, but this time she visited the doctor because of cough, and there were no other clinical signs. DIAGNOSES: The patient underwent computed tomography plain scan and enhanced scan after admission with imaging manifestations of a mixed density mass in the left chest cavity, calcification and fat density in the inside, and tortuous blood vessels after enhancement. Combined with imaging, the diagnosis was teratoma, not excluding hamartoma. INTERVENTIONS: The patient underwent a central open thoracic giant mass resection. OUTCOMES: The postoperative pathology confirmed that it was angiomyolipoma originating from anterior mediastinum invasion of the left chest cavity, and no clear recurrence was seen after 1 year of postoperative follow-up. LESSONS: Angiomyolipomas in the mediastinum are rare, especially those that invade the thorax. This article describes the clinical, imaging and pathological features of the patient in detail, which improves the understanding of the disease of clinical and imaging doctors, and provides a basis for the differential diagnosis of mediastinal lesions.

Identification of genomic-wide genetic links between cutaneous melanoma and obesity-related physical traits via cFDR.

BACKGROUND: Both epidemiological and clinical studies have suggested the comorbidity between cutaneous melanoma (CM) and obesity-related physical traits. However, it remains unclear about their shared genetic architecture. OBJECTIVE: To determine the shared genetic architecture between CM and obesity-related physical traits through conditional false discovery rate (cFDR) analysis. METHOD: Quantile-quantile plots were firstly built to assess the pleiotropic enrichment of shared single nucleotide polymorphisms between CM and each trait. Then, cFDR and conjunctional cFDR (ccFDR) were used to identify the shared risk loci between CM and each trait. Moreover, the functional evaluation of shared risk genes was carried out through analyses of expression quantitative trait loci (eQTL), Kyoto Encyclopedia of Genes and Genomes and gene ontology, respectively. Finally, single-cell sequence analysis was performed to locate the expression of eQTL-mapped genes in tissues. RESULTS: Successive pleiotropic enrichment was found between CM and 5 obesity-related traits or height. 24 shared risk loci were identified between CM and 13 traits except appendicular lean mass using ccFDR analysis, with 17 novel and 4 validated loci. The functions of ccFDR-identified and eQTL-mapped genes were revealed to be mainly involved in cellular senescence, proliferation, meiotic nuclear division, cell cycle, and the metabolism of lipid, cholesterol and glucose. Single-cell sequence analysis showed that keratinocytes contribute to the occurrence and aggressiveness of CM through secreting paracrine cytokines. CONCLUSION: Our findings demonstrate the significant genetic correlation between CM and obesity-related physical traits, which may provide a novel genetical basis for the pathogenesis and treatment of CM.

Factors influencing outcomes of pelvic osteotomy for residual acetabular dysplasia following closed reduction in patients with developmental dysplasia of the hip.

To investigate the factors influencing outcome of pelvic osteotomy (PO) for residual acetabular dysplasia (RAD) following closed reduction (CR) in patients with developmental dysplasia of the hip (DDH). We retrospectively reviewed 91 patients (95 hips) with DDH who underwent PO for RAD. Tönnis grade, Acetabular index, Center Edge Angle, Reimer's Index (RI), and avascular necrosis of the femoral head (AVN) were assessed. Hips were divided into satisfactory (Severin I/II) and unsatisfactory group (Severin III/IV). Finally, 87 hips (91.5%) had satisfactory and 8 (8.5%) unsatisfactory outcomes. The RI before PO was significantly higher in unsatisfactory (49.6 ± 9%) than in satisfactory group (30.6%±11.8%). All patients without AVN had satisfactory outcome, while it was 78.9% of patients with AVN. Logistic regression analysis showed that higher AVN grade and RI before PO were risk factors for unsatisfactory outcome. Satisfactory outcome was obtained in all hips with RI < 33% before PO, while it was 79.5% if RI > 33% before PO (79.5%). There was no difference in the satisfactory rate between patients undergoing open reduction (66.7%) and those not undergoing (83.3%). The rate of satisfactory outcome in patients undergoing femoral osteotomy (63.6%) was lower than those without it (100%). In patients with RAD following CR, good outcome can be expected after PO alone. AVN and preoperative RI > 33% are risk factors for poor outcome. Additional open reduction and femoral osteotomy do not significantly improve outcome of PO in patients with preoperative RI > 33%.

Ulnar osteotomy and monolateral external fixator for the treatment of chronic Monteggia fractures in children: comparison between gradual and acute radial head reduction.

This study evaluated the outcomes of chronic Monteggia fractures (CMFs) treated by ulnar osteotomy and monolateral external fixator (MEF), and compare the outcome of gradual versus acute radial head reduction. Two groups of patients were identified. Group 1: gradual reduction of the radial head ( n = 13); group 2: acute reduction ( n = 6). Clinical outcome was evaluated by Kim Elbow Score, whereas radiographic outcome was assessed on plain radiographs. The effect of age, side, time from initial trauma to surgery, rate of unplanned surgery, amount of angulation and lengthening, and final outcome were evaluated. Univariate analysis was performed to identify factors associated with good radiographic outcome. Thirteen patients underwent gradual correction of the ulna. The mean duration of correction was 43.4 days (range, 21-82); the mean angulation and lengthening of the ulna were 22.8° (range, 0°-35°) and 22.2 mm (range, 12.2-40.9), respectively. Six patients underwent acute reduction intraoperatively, the mean angulation and lengthening of the ulna were 17.2° (range, 4°-33.9°) and 5.2 mm (range, 2.5-12.2), respectively. CMF treated by ulnar osteotomy and gradual distraction had better radiological outcome (Group 1; 92.3% 12/13) than those treated by acute reduction of the radial head (Group 2; 3/6, 50%) ( P = 0.071). Reoperation rate was found to be significantly correlated with a fair or poor radiographic results ( P = 0.016). Good clinical and radiological outcomes should be expected in CMF patients treated by gradual lengthening and angulation of the ulna with a MEF.

Framework Nucleic Acids as Blood-Retinal-Barrier-Penetrable Nanocarrier for Periocular Administration.

Designing an ocular drugs delivery system that can permeate the outer blood-retinal barrier (oBRB) is crucial for the microinvasive or noninvasive treatment of ocular fundus diseases. However, due to the lack of a nanocarrier that can maintain structure and composition at the oBRB, only intravitreal injection at the eyeball can deliver therapeutics directly to the ocular fundus via paracellular and intercellular routes, despite the intraocular operations risks. Here, we demonstrated tetrahedral framework nucleic acids (tFNAs) can penetrate the oBRB and deliver therapeutic nucleic acids to the retina of the rat eye in vivo following subconjunctival injection. We also discovered that tFNAs were transported via a paracellular route across the intercellular tight junctions at the oBRB. The histology analysis for ocular layers indicated that individual and aptamer/doxorubicin-loaded tFNAs penetrated all layers of the posterior segment of the eyeball to reach the innermost retina and persisted for over 3 days with minimal systemic biodistribution. We expect that the programmability and penetrability of tFNAs will provide a promising method for drug delivery across oBRB and long-term sustenance at the target site via periocular administration to various tissues.

Incidence and risk factors for persistent acetabular dysplasia in patients with developmental dislocation of the hip treated by Pavlik Harness.

Some patients with developmental dysplasia of the hip (DDH) before 6 months of age successfully treated by Pavlik Harness (PH) still had persistent acetabular dysplasia (PAD). This study aimed to investigate the incidence and risk factors for PAD in patients with DDH treated by PH. We retrospectively reviewed the data of 89 patients (109 hips; mean age, 3.2 ± 1.5 months) with DDH treated by PH. Prior to treatment, all patients underwent ultrasound examination and classified according to Graf's method. PH was terminated once the hip achieved imaging recovery criteria. At final follow-up, the acetabular index (AI), center-edge angle (CEA) of Wiberg were measured on radiograph. Overall, 67/109 hips (61.5%) had successful PH treatment. Among these 67 hips, 58 hips (86.6%) achieved satisfactory outcome, nine (13.4%) had PAD. Age of the patients with PAD (4.3 ± 1 months) was significantly higher than those without PAD (2.8 ± 1.5 months) ( P = 0.001). Hips with PAD had higher mean Graf grade than those with satisfactory outcome ( P = 0.014). Logistic regression-confirmed age and Graf classification were risk factors for PAD. Overall, 55/67 (82.1%) met imaging recovery criteria to stop PH treatment, whereas 12/67 hips (17.9%) did not. The rate of PAD at final follow-up in patients achieving recovery criteria (4/55; 7.3%) was significantly lower than those not achieving it (41.7%) ( P = 0.007). In conclusion, age and Graf classification are risk factors for PAD. If hips are not normal at the end of PH treatment, the risk of PAD increases further.

To Angulate or Not to Angulate the Ulna during the Progressive Distraction Period Performed with a Monolateral External Fixator in Paediatric Patients with a Chronic Monteggia Fracture?

Background and Objectives: The purpose of this study was to compare the clinical and radiographic evolution of chronic Monteggia fractures (CMFs) treated by ulnar osteotomy and monolateral external fixators (MEFs) with or without angulation of the ulna during the distraction period. Materials and Methods: This retrospective study evaluated 20 children (14 boys and 6 girls) with CMFs. According to the strategy of ulnar lengthening, two groups of patients were identified: patients undergoing gradual lengthening with (Group A, n = 11) or without ulna angulation (Group B, n = 9). The mean age at the time of surgery was 7.7 years old (range, 5.4−12.9). The mean time from initial trauma to surgery was 26.3 months (range, 1−96), and the mean follow-up was 24.6 months (range, 5.5−45.4). Clinical outcomes were evaluated by Kim et al.'s Elbow Performance Score, while radiographic outcomes were assessed on plain radiographs. Results: Age at surgery, sex, laterality, time between trauma and surgery, and time of follow up in the two groups of patients showed no significant differences. The radial head was successfully reduced in 9 of 9 and 10 of 11 patients in Groups B and A, respectively (p = 1.00). The mean time to achieve radial head reduction was shorter in Group B (18.1 ± 5.3 days) than in Group A (39.2 ± 18.7 days; p = 0.004). The mean angulation of the ulna at the end of treatment was significantly lower in Group B (0.6° ± 1.1°) than in Group A (25.9° ± 6.3°; p < 0.0001). The average ulnar lengthening at the end of treatment in Group B (14.1 ± 5.8 mm) was, on average, 7.7 mm less than that in Group A (21.8 ± 9.7 mm; p = 0.05). The Kim et al. Elbow Performance Score at the last follow-up visit was comparable between the two groups of patients (p = 1.00). Conclusions: A shorter time to achieve radial head reduction and less deformity of the ulna can be expected in paediatric patients with CMFs undergoing intraoperative restoration of ulnar alignment and gradual lengthening without angulation postoperatively.

Adult hamartoma of the chest wall: A case report.

This paper retrospectively analyzed the case data of an adult hamartoma of the left chest wall, and combined with the literature analysis, to discuss the clinical characteristics, imaging diagnosis and differential diagnosis of hamartoma. CT and MRI findings of the patient showed medial occupation of the left serratius anterior muscle, with visible fat and calcification. Different from the previous reports of chest wall hamartoma in terms of age, location and imaging characteristics, this case had certain characteristics, and the diagnosis needed pathological confirmation after surgical resection.

Repair of Large-Scale Rib Defects Based on Steel-Reinforced Concrete-Designed Biomimetic 3D-Printed Scaffolds with Bone-Mineralized Microenvironments.

Tissue engineering technology provides a promising approach for large-scale bone reconstruction in cases of extensive chest wall defects. However, previous studies did not consider meticulous scaffold design specific to large-scale rib regeneration in terms of three-dimensional (3D) shape, proper porous structures, enough mechanical strength, and osteogenic microenvironments. Thus, there is an urgent need to develop an appropriate bone biomimetic scaffold (BBS) to address this problem. In this study, a BBS with controllable 3D morphology, appropriate mechanical properties, good biocompatibility and biodegradability, porous structure suitable for cell loading, and a biomimetic osteogenic inorganic salt (OIS) microenvironment was successfully prepared by integrating computer-aided design, 3D-printing, cast-molding, and freeze-drying technologies. The addition of the OIS in the scaffold substantially promoted ectopic bone regeneration in vivo, which might be attributed to the activation of osteogenic and angiogenic signaling pathways as well as upregulated expression of osteogenic genes. More importantly, dual long rib defects could be successfully repaired and medullary cavity recanalized by the rib-shaped mature cortical bone, which might be mediated by the activation of osteoclast signaling pathways. Thus, this paper presents a reliable BBS and proposes a new strategy for the repair of large-scale bone defects.

Closed reduction and percutaneous pinning versus open reduction and internal fixation for Jakob type 3 lateral condyle fractures in children.

PURPOSE: The management of type 3 lateral condyle fractures (LCFs) remains controversial. The main goal of this study was to evaluate the feasibility of closed reduction and percutaneous pinning (CRPP) in patients with type 3 LCFs and to assess the outcome of such injuries according to the type of treatment, CRPP, or open reduction and internal fixation (ORIF). METHODS: This is a retrospective review of prospectively enrolled children with type 3 LCF managed by CRPP or ORIF between 2018 and 2021. All patients were followed for at least 12 months. Patients were divided into two groups according to the type of treatment, CRPP or ORIF. Demographic characteristics were recorded for all patients. Standard radiographs were used to identify, evaluate, and classify each fracture and to detect the presence of other concomitant bone lesions. The clinical outcome was assessed according to the Hardacre et al. criteria. RESULTS: Seventy-eight children with type 3 LCF were included; 42 were treated by CRPP (53.8%) and 36 by ORIF (46.2%); the mean follow-up time was 17.7 months (range, 12.3-40.9). The baseline characteristics did not differ between the two groups of patients. Overall, successful CRPP could be achieved in 39 out of 42 patients (92.9%). The mean surgical time was 63.4 and 84.5 min in patients treated by CRPP and ORIF, respectively (p = 0.01). Fluoroscopy time was significantly shorter in patients managed by ORIF than in those treated by CRPP (12 versus 40 s, respectively; p < 0.001). Clinical outcome according to the Hardacre et al. criteria was excellent in 37 out of 39 (94.4%) and in 35 out of 36 patients (97.2%) treated by CRPP and ORIF, respectively (p = 0.09). CONCLUSIONS: CRPP management of paediatric type 3 LCF has clinical and radiographic outcomes similar to ORIF; if satisfactory reduction cannot be achieved by CRPP, conversion to ORIF should be considered.

Research progress in seed cells for cartilage tissue engineering.

Cartilage defects trouble millions of patients worldwide and their repair via conventional treatment is difficult. Excitingly, tissue engineering technology provides a promising strategy for efficient cartilage regeneration with structural regeneration and functional reconstruction. Seed cells, as biological prerequisites for cartilage regeneration, determine the quality of regenerated cartilage. The proliferation, differentiation and chondrogenesis of seed cells are greatly affected by their type, origin and generation. Thus, a systematic description of the characteristics of seed cells is necessary. This article reviews in detail the cellular characteristics, research progress, clinical translation challenges and future research directions of seed cells while providing guidelines for selecting appropriate seed cells for cartilage regeneration.

Cartilage defects affect millions of patients worldwide and their repair via conventional treatment is quite difficult. Excitingly, tissue engineering technology provides a promising strategy for efficient cartilage regeneration. The seed cell, as a biological prerequisite for cartilage regeneration, determines the quality of regenerated cartilage. This article reviews in detail the cellular characteristics, research progress, clinical translation challenges and future research directions of various chondrocytes, chondroprogenitor cells and stem cells. Chondrocytes, especially elastic chondrocytes, could complete subcutaneous cartilage regeneration, whereas stem cells are superior for composite defects, allografts and cartilage defects caused by inflammation. In brief, this article provides a guide for selecting appropriate seed cells for cartilage regeneration.

Does a Graf Type-I Hip Justify the Discontinuation of Pavlik Harness Treatment in Patients with Developmental Dislocation of the Hip?

Background: To analyze the clinical data of patients aged < 6 months with developmental dislocation of the hip (DDH) treated with Pavlik Harness (PH) in order to identify the best time to terminate PH treatment. Method: Fifty-four patients (47 females, 7 males; 63 hips) met the inclusion criteria and were included in the study; there were 33 (61.1%) left, 12 (22.2%) right and 9 (16.7%) bilateral DDH. The mean age at diagnosis was 11.8 ± 5.9 weeks (range, 1.4−25.5). All patients underwent fulltime PH treatment for about three months. At completion of PH treatment, patients were then divided into Group A, including patients with clinically stable hip joint and Graf type-I hip on ultrasound (US), and Group B, including patients with clinically stable hip joint and well-reduced hip on anterior-posterior (AP) radiographs without acetabular dysplasia. Six months after completion of PH treatment, the presence/absence of residual acetabular dysplasia (RAD) was evaluated on AP pelvis radiographs. The t-test and chi-square test were used to compare the differences in age, gender, side, Graf classification and RAD rate between the two groups of patients. Results: At completion of PH treatment, 45 hips were in Group A and 18 in Group B. There were no significant differences in age, gender, side, preoperative alpha angle and Graf classification between the two groups. Six months after discontinuation of PH, the AI in Group A (27.1° ± 6.8°) was significantly higher than that in Group B (21.9° ± 3.5°; p = 0.001); moreover 23 hips (51.1%) in Group A developed RAD compared to one hip in Group B (5.6%; p = 0.001). Among Group A patients, those with RAD were significantly older (13.7 ± 4.9 weeks) than those with normal hips (7.6 ± 3.8 weeks; p < 0.001); the incidence of RAD was significantly lower in patients with Graf type-II D hips (22.2%) than in patients with Graf type-III (70%) and type-IV hips (71.4%; p = 0.006). However, logistic regression analysis identified age as the only risk factor for RAD. All 24 hips with RAD (24/63, 38.1%) were treated with abduction braces. At final follow-up, AI in Group A (20.5° ± 3.3°) was not significantly different from that in Group B (21.9° ± 3.3°; p = 0.132). At the last follow-up visit, five hips (11.1%) in Group A still had RAD, compared to none in Group B (p = 0.31). Conclusions: In patients with DDH treated by PH, Graf type-I on US is not an absolute timing to terminate PH treatment. In addition, patients ≥ 13 weeks had a high risk of RAD despite PH treatment as 51.1% of infants developed RAD during follow up. Follow-up radiographs should be requested in all patients achieving Graf type-I hips at completion of PH treatment.

The Systemic Immune-Inflammation Index May Be a Novel and Strong Marker for the Accurate Early Prediction of Acute Kidney Injury in Severe Acute Pancreatitis Patients.

OBJECTIVE: This research was performed to investigate the correlation between acute kidney injury (AKI) and systemic immune-inflammation index (SII) in severe acute pancreatitis (SAP) patients. METHODS: The study included 218 SAP patients from Chongqing Jiangjin Center Hospital during January 2016 to October 2020. The SII was defined as platelet × neutrophil/lymphocyte ratio. After univariate analysis, logistic regression analysis was used for analyzing independent risk factors of AKI in SAP patients. Receiver operating characteristic (ROC) curve was used for analyzing the prognostic value of the SII. RESULTS: AKI occurred in 74 cases and its incidence rate was 33.9%. The median SII value of AKI patients was higher than that of patients without AKI. After multivariate analysis, SII, age, triglyceride (TG), neutrophil ratio (NEU-R), C-reactive protein (CRP), aspartate aminotransferase (AST), and serum albumin (ALB) were independent predictors of AKI. Serum ALB was an independent protective factor. The optimum threshold truncation value of SII was 2880.1*10^9/L. Compared with other inflammatory factors, SII had a better prediction efficiency. CONCLUSION: The SII, TG, NEU-R, CRP, and ALB were significant independent predictors of AKI in SAP patients. Serum TG, NEU-R, CRP, and SII were risk factors. Serum ALB was a protective factor. The SII may be a novel, simple, and strong marker for the accurate early prediction of AKI in SAP patients.

Preliminary evaluation of sagittal and transverse plane cross-sectional variations of the trunk during quiet and deep breathing by optical reflective motion analysis in patients with scoliosis.

Trunk movements during quiet and deep breathing in untreated and in operated patients with scoliosis are not well defined. To evaluate sagittal and transverse plane cross-sectional variations of the trunk during quiet and deep breathing by optical reflective motion analysis (ORMA) in children with scoliosis. Twenty-one patients were divided into three groups: normal subjects (A; n = 6), subjects with untreated scoliosis >50° (B; n = 7) and operated patients (C; n = 8). Standing and sitting height, T1-T12 and L1-L5 length, arm span, chest perimeter, weight and BMI were recorded. Trunk movements of all patients, during quiet and deep breathing, were measured with a 10-camera 3D ORMA system (82 markers) with the subjects in a standard standing position. Groups were comparable with respect to age, sex, height, arm span and weight (P > 0.05). Significant differences were found in Cobb angle, chest perimeter and BMI (P < 0.05). Trunk sagittal and transverse plane movements during quiet and deep breathing decreased significantly in group B and group C when compared to group A (P < 0.05). Surgery does not completely eliminate sagittal and transverse plane kinematics, although the spine is rendered more rigid. This preliminary study involving a relatively limited number of patients outlines ORMA is a useful tool for analyzing sagittal and transverse plane motion abnormalities of the trunk. Trunk kinematics was altered during breathing in unoperated patients with scoliosis >50°. Operated subjects had sagittal plane trunk kinematics closer to normal subjects, although changes were less pronounced at the level of the convex side.

Autophagy is involved in neurofibromatosis type I gene-modulated osteogenic differentiation in human bone mesenchymal stem cells.

Neurofibromatosis type I (NF1) is an autosomal dominant genetic disease that is caused by mutations in the NF1 gene. Various studies have previously demonstrated that the mTOR complex 1 signaling pathway is essential for the NF1-modulated osteogenic differentiation of bone mesenchymal stem cells (BMSCs). Additionally, the mTOR signaling pathway plays a notable role in autophagy. The present study hypothesized that NF1 could modulate the osteogenic differentiation of BMSCs by regulating the autophagic activities of BMSCs. In the present study, human BMSCs were cultured in an osteogenic induction medium. The expression of the NF1 gene was either knocked down or overexpressed by transfection with a specific small interfering RNA (siRNA) targeting NF1 or the pcDNA3.0 NF1-overexpression plasmid, respectively. Autophagic activities of BMSCs (Beclin-1, P62, LC3B I, and LC3B II) were determined using western blotting, electron microscopy, acridine orange (AO) staining and autophagic flux/lysosomal detection by fluorescence microscopy. In addition, the autophagy activator rapamycin (RAPA) and inhibitor 3-methyladenine (3-MA) were used to investigate the effects of autophagy on NF1-modulated osteogenic differentiation in BMSCs. Inhibiting NF1 with siRNA significantly decreased the expression levels of autophagy markers Beclin-1 and LC3B-II, in addition to osteogenic differentiation markers osterix, runt-related transcription factor 2 and alkaline phosphatase. By contrast, overexpressing NF1 with pcDNA3.0 significantly increased their levels. Transmission electron microscopy, AO staining and autophagic flux/lysosomal detection assays revealed that the extent of autophagosome formation was significantly decreased in the NF1-siRNA group but significantly increased in the NF1-pcDNA3.0 group when compared with the NC-siRNA and pcDNA3.0 groups, respectively. In addition, the activity of the PI3K/AKT/mTOR pathway [phosphorylated (p)-PI3K, p-AKT, p-mTOR and p-p70S6 kinase] was significantly upregulated in the NF1-siRNA group compared with the NC-siRNA group, and significantly inhibited in the NF1-pcDNA3.0 group, compared with the pcDNA3.0 group. The knockdown effects of NF1-siRNA on the autophagy and osteogenic differentiation of BMSCs were reversed by the autophagy activator RAPA, while the overexpression effects of NF1-pcDNA3.0 on the autophagy and osteogenic differentiation of BMSCs were reversed by the autophagy inhibitor 3-MA. In conclusion, results from the present study suggest at the involvement of autophagy in the NF1-modulated osteogenic differentiation of BMSCs. Furthermore, NF1 may partially regulate the autophagic activity of BMSCs through the PI3K/AKT/mTOR signaling pathway.

Dynamic versus static cast immobilization in children aged 6 to 24 month with developmental dysplasia of the hip treated by closed reduction.

BACKGROUND: To compare the effects of two types of cast immobilization (human position cast and dynamic cast) on hip development in children with Developmental dysplasia of the hip (DDH) after closed reduction (CR). METHODS: A retrospective study of 60 children (64 hips) with DDH who underwent CR and cast immobilization between January 2015 and December 2016 at our Institution was performed. The average age at the time of CR was 14.6 months (range, 6.1-23.5). Fifty-seven females and 3 males were included. According to the technique of cast immobilization, two groups of patients could be identified: patients with DDH managed by human position cast immobilization (Group A: 32 patients, 34 hips) and patients with DDH treated by dynamic cast immobilization (Group B: 28 patients, 30 hips). Hip joint distance (HJD) after CR was measured on MRI. Acetabular index (AI) and Acetabular Depth Radio (ADR) were measured of anterior-posterior (AP) radiographs before and 3 months after CR; AI and central edge angle (CEA) were measured last follow-up AP radiographs. The presence of subluxation or dislocation and avascular necrosis (AVN) at the last follow-up visit was also evaluated. RESULTS: The patients were comparable regarding to sex, side, age, Tönnis degree, AI, and ADR before the reduction between two groups. There was no significant difference in HJD improvement between the two groups 6 weeks following closed reduction. The AI(27.5±5.1°) of group B was significantly lower than those of Group A (31±4.9°) (p=0.03) when cast was removed 3 months after CR. At the last follow-up, the incidence of AVN was similar between the two groups of patients (Group A: 11.8% versus Group B: 13.3%), and the incidence of subluxation or dislocation (Group A: 8.8% versus Group B: 10%). At last follow-up visit, the AI (23.7±5.4°) in Group B was significantly lower than in Group A (26.9±4.1°) (p=0.02). CONCLUSIONS: Dynamic cast immobilization promotes acetabular development following CR in patients aged 6 to 24 months with DDH. Dynamic cast immobilization does not increase the risk of dislocation or subluxation, nor of AVN.