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.

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.

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.

Variables influencing the pelvic radiological evaluation in children with developmental dysplasia of the hip managed by closed reduction: a multicentre investigation.

PURPOSE: This study aims to evaluate (1) the probability to achieve normal pelvic radiographs in children with developmental dysplasia of the hip (DDH) treated by closed reduction and (2) the amount of time needed to achieve normal pelvic radiographs and to assess what factors influence both probability and time to achieve normal radiographic parameters following CR and spica cast immobilization for DDH. METHODS: We retrospectively reviewed 436 patients (393 girls, 43 boys; 507 hips) with DDH treated by closed reduction (CR). Tönnis grade, AVN, acetabular index (AI), centre-edge angle (CEA), and Severin radiographic grade were evaluated on plain radiographs. Criteria to rate pelvis radiographs as normal were established. Cox regression was used to evaluate the factors influencing the probability and the time to achieve normal radiographs. RESULTS: According to our criteria, 167 hips (32.9%) achieved normal radiographic parameters during follow-up. The overall amount of time to achieve normal pelvis radiographs was 36.1 ± 15.5 months. Patients older than 24 months of age at the time of CR needed longer time to achieve normal radiographic parameters (55.2 ± 28 months) compared with other age groups. Cox regression analysis suggested the overall cumulative probability of recovery increased by 46% at five years following CR, then it tended to plateau with an annual increase less than 5%. Age older than 24 months, bilateral dislocation, pre-operative AI greater than 40°, and AVN were risk factors for reduced probability of achieving normal radiographic parameters. CONCLUSIONS: The cumulative probability of achieving normal pelvis radiographs increases linearly during the first five years following CR, then it tends to plateau. Age older than 24 months and Tönnis grade III and IV are associated with longer time to achieve normal radiographic parameters. Age older than 24 months, bilateral dislocation, pre-operative AI greater than 40°, and AVN are risk factors for reduced probability of achieving normal radiographic parameters in children with DDH treated by closed means.

Protective effects of L-arginine on the intestinal epithelial barrier under heat stress conditions in rats and IEC-6 cell line.

Heat stress (HS) and the associated restricted blood flow to the intestine have been proven to destroy intestinal integrity. Considering the beneficial properties of L-arginine on gut function, we investigated the protective effects of L-arginine on the intestine under HS conditions. In vivo, the serum cortisol level and the rectal temperature increased in response to HS. Under HS, the intestinal damage showed obvious morphological changes. Furthermore, HS decreased the mRNA and protein expression levels of Nurr1, ZO-1, occludin, claudin-6 and E-cadherin, increased the mRNA expression of NF-κB and IL-1ß, and increased the protein expression of cleaved caspase-3. In contrast, L-arginine supplementation maintained intestinal integrity and increased the villus/crypt ratio. L-arginine also suppressed the expression of inflammation-related genes and the protein expression of cleaved caspase-3, whereas it upregulated the mRNA and protein expression of tight junction proteins and LC3B protein expression. In vitro, L-arginine attenuated HS-induced apoptosis as demonstrated by flow cytometry and decreased cleaved caspase-3 protein expression. L-arginine induced autophagy, which was demonstrated by decreased expression of p62 and p-mTOR/mTOR, and increased expression of LC3B. The protein expression levels of TJ proteins also enhanced by L-arginine in IEC-6 cells. Taken together, these results suggest that L-arginine can alleviate intestinal damage and protect the intestinal integrity by suppressing local inflammation response, promoting the production of TJs and facilitating autophagy under HS conditions.

RNA-Seq based transcriptome analysis during bovine viral diarrhoea virus (BVDV) infection.

BACKGROUND: Bovine viral diarrhoea virus (BVDV) is the member of the genus Pestivirus within the Flaviviridae family and responsible for severe economic losses in the cattle industry. BVDV can employ 'infect-and-persist' strategy and 'hit-and-run' strategy to remain associated with hosts and thus contributes to BVDV circulation in cattle herds. BVDV have also evolved various strategies to evade the innate immunity of host. To further understand the mechanisms by which BVDV overcomes the host cell innate immune response and provide more clues for further understanding the BVDV-host interaction, in this descriptive study, we conducted a investigation of differentially expressed genes (DEGs) of the host during BVDV infection by RNA-Seq analysis. RESULTS: Our analysis identified 1297, 1732, 3072, and 1877 DEGs in the comparison groups mock vs. MDBK cells infected with BVDV post 2 h (MBV2h), mock vs. MBV6h, mock vs. MBV12h, and mock vs. MBV24h, respectively. The reproducibility and repeatability of the results were validated by RT-qPCR. Enrichment analyses of GO annotations and KEGG pathways revealed the host DEGs that are potentially induced by BVDV infection and may participate in BVDV-host interactions. Protein-protein interaction (PPI) network analyses identified the potential interactions among the DEGs. Our findings suggested that BVDV infection induced the upregulation of genes involved in lipid metabolism. The expression of genes that have antiviral roles, including ISG15, Mx1, OSA1Y, were found to be downregulated and are thus potentially associated with the inhibition of host innate immune system during BVDV infection. The expression levels of F3, C1R, KNG1, CLU, C3, FB, SERPINA5, SERPINE1, C1S, F2RL2, and C2, which belong to the complement and coagulation signalling cascades, were downregulated during BVDV infection, which suggested that the complement system might play a crucial role during BVDV infection. CONCLUSION: In this descriptive study, our findings revealed the changes in the host transcriptome expression profile during BVDV infection and suggested that BVDV-infection induced altering the host's metabolic network, the inhibition of the expression of antiviral proteins and genes within the complement system might be contributed to BVDV proliferation. The above findings provided unique insights for further studies on the mechanisms underlying BVDV-host interactions.

HOXA9 rs3801776 G>A polymorphism increases congenital talipes equinovarus risk in a Chinese population.

BACKGROUND: Congenital talipes equinovarus (CTEV) is the most common congenital deformity in children, and muscular dysplasia plays a potential role in the etiology of CTEV. Notably, previous studies have found that HOXA9 rs3801776 and TPM2 rs2025126 genetic polymorphisms play important roles in regulating muscle development in Caucasian children; however, there is a lack of investigations conducted in Chinese children. METHODS: We conducted a hospital-based, case-control study of 189 children with CTEV and 457 CTEV-free children aiming to examine the associations between these two polymorphisms and CTEV susceptibility. The rs3801776 (G>A) and rs2025126 (G>A) polymorphisms were genotyped using TaqMan. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to measure the associations between the selected polymorphisms and CTEV susceptibility. RESULTS: We found that rs3801776A was associated with increased CTEV risk (GA versus GG: adjusted OR = 1.81, 95% CI = 1.22-2.69, p = 0.0031; AA versus GG: adjusted OR = 2.19, 95% CI = 1.28-3.73, p = 0.0041; GA/AA versus GG: adjusted OR = 1.89, 95% CI = 1.29-2.76, p = 0.0010). In a stratified analysis, the risk effect of rs3801776 GA/AA was observed in both unilateral and bilateral patients. CONCLUSIONS: The present study suggests that the rs3801776 G>A polymorphism is associated with CTEV risk in Chinese children; however, this conclusion should be validated in larger studies.

L-Arginine alleviates heat stress-induced intestinal epithelial barrier damage by promoting expression of tight junction proteins via the AMPK pathway.

Heat stress (HS) and secondary restricted blood flow to the intestines cause dysfunction of the intestinal epithelial barrier. Tight junctions (TJs) are essential to maintain intestinal integrity. L-Arginine has beneficial effects on gut functions. However, the underlying mechanisms remain largely unknown. This study tested the hypothesis that L-arginine regulates the TJ network by activating AMP-activated protein kinase (AMPK) signaling, which in turn improves intestinal barrier functions under HS. IEC-6 cells and rat small intestines were used as experiment models of heat stress. AICAR and dorsomorphin were used to activate and inhibit the AMPK pathway, respectively. Cell proliferation, apoptosis, differential gene expression and KEGG pathway analysis, intestinal paracellular permeability, intestinal morphology, and expression of HSP and TJ proteins, and p-AMPK were determined. L-Arginine promoted cell proliferation and reduced apoptosis after heat exposure at an optimal concentration of 5 mmol. Transcriptome sequencing analysis revealed that differentially expressed genes associated with the HSP family and TJs were elevated by L-arginine. According to KEGG pathway analysis, L-arginine activated the AMPK signaling pathway. In vivo, intestinal damage resulted in obvious morphological changes as well as apoptosis with TUNEL and caspase-3 staining under HS and dorsomorphin treatments. Furthermore, HS and dorsomorphin increased the serum D-lactate concentration, diamine oxidase activity, and mRNA expression level of MLCK (P < 0.05). In contrast, L-arginine and AICAR treatments reduced intestinal injury, maintained intestinal permeability, and increased the villus/crypt ratio under hyperthermia. L-Arginine had the same effect as AICAR both in vitro and in vivo, namely increasing p-AMPK protein expression. L-Arginine and AICAR also upregulated the mRNA expression level of HSP70 and HSP90, and downregulated mRNA expression of MLCK (P < 0.05). The protein expression levels of TJ proteins ZO-1 and claudin-1 were suppressed by heat stroke and dorsomorphin, but enhanced by L-arginine and AICAR. Our findings indicate that activation of AMPK signaling by L-arginine is associated with improved intestinal mucosal barrier functions by enhancing the expression of TJs in rat small intestines and IEC-6 cells during HS.

Femoral anteversion does not predict redislocation in children with hip dysplasia treated by closed reduction.

PURPOSE: Increased femoral anteversion can be associated with hip instability, redislocation after closed reduction, and subsequent early degenerative arthritis. Our study compared proximal femoral anteversion of affected and unaffected sides of patients with unilateral developmental dysplasia of the hip (DDH) on two-dimensional computed tomography. The primary aim was to evaluate whether femoral anteversion at the time of treatment affected the outcome of patients with unilateral DDH treated by closed reduction. METHODS: A retrospective review of 89 patients (82 females; 53 left; mean age: 26.6 months) with unilateral DDH was performed. Anteversion angle (AA) of the femur and acetabular index (AI) of both affected (AAa; AIa) and unaffected (AAu; AIu) hips were measured on two-dimensional CT scan performed no more than seven days prior to the index surgical procedure. RESULTS: Among the 89 patients, 50 underwent closed reduction (56.2%), 38 underwent open reduction with or without pelvic osteotomy (42.7%), and one patient refused treatment (1.1%). Overall, the mean AAa was 28.1° ± 10.2° (range: 6.3°-54°) and mean AAu was 25.2° ± 9.9° (range: 1.9°-52.5°) (t = 3.2, p = 0.002). Tönnis type 2 hips did not show any statistically significant difference between AAa and AAu (p = 0.386), while Tönnis types 3 and 4 hips had significantly higher AAa than did AAu (t = 3.7, p = 0.001). There were significant correlations between age and AAa (coefficient = 0.4; p < 0.001) and AAu (coefficient = 0.304; p = 0.004). Correlation analysis showed that AIa did not improve with age in any Tönnis group (r: - 0.24, p = 0.823; F = 0.039, p = 0.962). AAa, AIa, AAD, AID, and Tönnis grade distribution were similar in patients with good (no redislocation) and poor outcomes (redislocation) (p > 0.05). CONCLUSION: In patients with unilateral DDH, anteversion angle (AA) was found to be significantly different between affected and unaffected sides. However, the difference had very limited or no clinical significance, as redislocation/sub-luxation was not influenced by AA values.

RNA-Seq transcriptome analysis of breast muscle in Pekin ducks supplemented with the dietary probiotic Clostridium butyricum.

BACKGROUND: Increased attention is being paid to breast muscle yield and meat quality in the duck breeding industry. Our previous report has demonstrated that dietary Clostridium butyricum (C. butyricum) can improve meat quality of Pekin ducks. However, the potential biological processes and molecular mechanisms that are modulated by dietary C. butyricum in the breast muscle of Pekin ducks remain unknown. RESULTS: Supplementation with C. butyricum increased growth performance and meat yield. Therefore, we utilized de novo assembly methods to analyze the RNA-Seq transcriptome profiles in breast muscle to explore the differentially expressed genes between C. butyricum-treated and control Pekin ducks. A total of 1119 differentially expressed candidate genes were found of which 403 genes were significantly up-regulated and 716 genes were significantly down-regulated significantly. qRT-PCR analysis was used to confirm the accuracy of the of RNA-Seq results. GO annotations revealed potential genes, processes and pathways that may participate in meat quality and muscle development. KEGG pathway analysis showed that the differentially expressed genes participated in numerous pathways related to muscle development, including ECM-receptor interaction, the MAPK signaling pathway and the TNF signaling pathway. CONCLUSIONS: This study suggests that long-time dietary supplementation with C. butyricum can modulate muscle development and meat quality via altering the expression patterns of genes involved in crucial metabolic pathways. The findings presented here provide unique insights into the molecular mechanisms of muscle development in Pekin ducks in response to dietary C. butyricum.

Genetic characterization and mutation analysis of Qihe547 Aujeszky's disease virus in China.

BACKGROUND: Aujeszky's disease virus (ADV) can cause neurologic disease in young pigs, respiratory disease in older pigs and abortion or birth of mummified fetuses or stillborn neonates. The re-emergence of Aujeszky's disease (AD) in pig farms vaccinated with live vaccine (Bartha-K61) caused substantial economic losses to Chinese pig industry since late 2011. A field ADV, named Qihe547, was isolated from pigs that exhibited suspected AD clinical symptoms. To better understand the genetic characteristics and mutations of Qihe547 ADV, the whole genome was sequenced and analyzed. RESULTS: The genomic length of Qihe547 ADV was 143,404 bp, with 73.59% G + C contents. Phylogenetic analysis based on the whole genome of ADV strains revealed that Chinese ADV strains were located to one group with three subgroups. Qihe547 ADV was closely related to these novel ADV strains isolated in China since 2012. Qihe547 presented numerous hypervariable regions compared with oversea ADV strains. In 34 genes of Qihe547 ADV, amino acid (AA) insertion or deletion were observed. In addition, numerous AA mutations were found in the main protective antigen genes (gB, gC and gD genes). The differences of potential antigenic peptides in the main protective antigens between Qihe547 ADV and ADV Bartha were discovered in the dominant antigenic regions of gB (AA59-AA126, AA507-AA734),the extracellular region of gC and gD. CONCLUSION: High diversity was observed between Qihe547 and foreign ADV isolates. The AA variations and the differences of potential antigenic peptides in the important functional regions of the main protective antigen (gB, gC and gD) of ADV Qihe547 may contribute to immune evasion of the virus and may be partial reason that the virus escapes from the vaccination of Bartha-K61 vaccine. In a word, the effect of the variations obviously requires further research.

Oxidative stress and hepatocellular injury induced by oral administration of Cr(3+) in chicken.

This study aims to investigate the oxidative stress and hepatocellular injury induced by Cr(3+) in chicken. Different doses of CrCl3 solutions (50% LD50 , 25% LD50 , and 12.5% LD50) and equivalent water were orally administered to chicken. Chicken liver samples were measured for the activities of antioxidant enzymes, the contents of glutathione, total antioxidant capacity (T-AOC), malondialdehyde (MDA), and hydrogen peroxide to indirectly evaluate the oxidative stress in chicken liver. Results indicated that the oral administration of Cr(3+) at high dose significantly increased (P < 0.05) the MDA levels after 28 days of exposure, with decreased T-AOC, glutathione, and antioxidant enzymes activities. Low and medium doses groups show that T-AOC, glutathione, and antioxidant enzymes activities increased after 14 days, then decreased gradually, but low and medium groups higher than control group, only high group lower than control group finally. These statistics and histopathological analysis suggest that high dose and long-term exposure of Cr(3+) induce oxidative stress and hepatocellular injury.

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.

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.

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.

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.

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.

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%.