Hypo-attenuating Berry Sign as a Novel Imaging Marker of Ruptured Aneurysm in Patients with Subarachnoid Hemorrhage; a Diagnostic Accuracy Study.

Introduction: Aneurysmal subarachnoid hemorrhage (SAH) constitutes a life-threatening condition, and identifying the ruptured aneurysm is essential for further therapy. This study aimed to evaluate the diagnostic accuracy of hypo-attenuating berry sign (HBS) observed on computed tomography (CT) scan in distinguishing ruptured aneurysms. Methods: In this diagnostic accuracy study, patients who had SAH and underwent non-enhanced brain CT scan were recruited. The HBS was defined as a hypo-attenuating area with an identifiable border in the blood-filled hyper-dense subarachnoid space. The screening performance characteristics of HBS in identifying ruptured aneurysms were calculated considering the digital subtraction angiography (DSA) as the gold standard. Results: A total of 129 aneurysms in 131 patients were analyzed. The overall sensitivity and specificity of HBS in the diagnosis of aneurysms were determined to be 78.7% (95%CI: 73.1% - 83.4%) and 70.7% (95%CI: 54.3% - 83.4%), respectively. Notably, the sensitivity increased to 90.9% (95%CI: 84.3% - 95.0%) for aneurysms larger than 5mm. The level of inter-observer agreement for assessing the presence of HBS was found to be substantial (kappa=0.734). The diagnostic accuracy of HBS in individuals exhibited enhanced specificity, sensitivity, and reliability when evaluating patients with a solitary aneurysm or assessing ruptured aneurysms. The multivariate logistic regression analysis revealed a statistically significant relationship between aneurysm size and the presence of HBS (odds ratios of 1.667 (95%CI: 1.238 - 2.244; p < 0.001) and 1.696 (95%CI: 1.231 - 2.335; p = 0.001) for reader 1 and reader 2, respectively). Conclusions: The HBS can serve as a simple and easy-to-use indicator for identifying a ruptured aneurysm and estimating its size in SAH patients.  .

FAM20A-Associated Amelogenesis Imperfecta: Gene Variants with Functional Verification and Histological Features.

OBJECTIVE: To investigate FAM20A gene variants and histological features of amelogenesis imperfecta and to further explore the functional impact of these variants. METHODS: Whole-exome sequencing (WES) and Sanger sequencing were used to identify pathogenic gene variants in three Chinese families with amelogenesis imperfecta. Bioinformatics analysis, in vitro histological examinations and experiments were conducted to study the functional impact of gene variants, and the histological features of enamel, keratinised oral mucosa and dental follicle. RESULTS: The authors identified two nonsense variants c. 406C > T (p.Arg136*) and c.826C > T (p.Arg176*) in a compound heterozygous state in family 1, two novel frameshift variants c.936dupC (p.Val313Argfs*67) and c.1483dupC (p.Leu495Profs*44) in a compound heterozygous state in family 2, and a novel homozygous frameshift variant c.530_531insGGTC (p.Ser178Valfs*21) in family 3. The enamel structure was abnormal, and psammomatoid calcifications were identified in both the gingival mucosa and dental follicle. The bioinformatics and subcellular localisation analyses indicated these variants to be pathogenic. The secondary and tertiary structure analysis speculated that these five variants would cause structural damage to FAM20A protein. CONCLUSION: The present results broaden the variant spectrum and clinical and histological findings of diseases associated with FAM20A, and provide useful information for future genetic counselling and functional investigation.

Pipkin Type I and II femoral head fractures: internal fixation or excision?-from the hip arthroscopy perspective.

The treatment of patients with femoral head fractures with regard to fixation versus excision is controversial. This study aimed to compare the results of fixation and excision in hip arthroscopy-assisted surgery. This retrospective study included adult patients with femoral head fractures who were treated with hip arthroscopy surgery from March 2016 to April 2020, with a minimum follow-up of 24 months. The patients were divided into two groups: Group 1 (fixation group) and Group 2 (excision group). To compare the therapeutic effects between the two groups, clinical and radiographic outcomes, operative time, pain score, length of hospital stay after surgery and related complications were investigated. There were 13 (mean duration, 47.5 months; range, 24-72 months) and 8 (mean duration, 48.6 months; range, 26-74 months) patients in the fixation and excision groups, respectively. The excision group had better functional results than the fixation group in terms of the median modified Harris hip score (P = 0.009). No significant differences were observed in operative time, pain score or hospital stay after surgery between the two groups. Further, no osteonecrosis of the femoral head or traumatic arthritis occurred in either group. A piece of fracture fragment >2 cm can be considered for hip arthroscopy-assisted internal fixation, whereas the others can be removed. The excision group had better outcomes than the fixation group. Hence, hip arthroscopy-assisted internal fixation or excision of bony fragments led to satisfactory short-term clinical and radiological results for the treatment of Pipkin Type I and II femoral head fractures.

Clinical and radiologic outcomes of the modified phemister procedure with coracoclavicular ligament augmentation using mersilene tape versus hook plate fixation for acute acromioclavicular joint dislocation.

BACKGROUND: The clinical superiority of surgical treatment for acromioclavicular (AC) joint dislocation remains controversial. The aim of this study was to compare the clinical and radiological outcomes of the modified Phemister procedure with CC ligament augmentation using Mersilene tape to those of hook plate fixation for acute AC joint dislocation. METHODS: In this study, patients who received modified Phemister surgery with CC ligament augmentation using Mersilene tape (PM group) or hook plate fixation (HK group) for acute unstable AC joint dislocation with a minimum 5-year follow-up period were retrospectively reviewed. The clinical outcomes were evaluated according to blood loss during surgery, surgical duration, visual analogue scale (VAS), Constant-Murley score (CMS), University of California at Los Angeles (UCLA) shoulder rating scale, and the occurrence of complications. Radiological outcomes were assessed from radiographs according to multiple parameters, including CC distance maintenance, acromion osteolysis, and the presence of distal clavicle osteolysis. RESULTS: A total of 35 patients completed follow-up for more than 5 years and were analyzed in this study (mean = 74.08 months). There were 18 patients in the PM group and 17 in the HK group. The PM group exhibited similar improvement in functional outcome to the HK group. Regarding radiological outcomes, the HK group had a superior performance in terms of CC distance maintenance, of statistical significance (CCDR: 94.29 ± 7.01% versus 111.00 ± 7.69%, p < 0.001) after a one-year follow-up period. However, there were 4 cases of acromion osteolysis and 2 cases of distal clavicle osteolysis in the HK group. CONCLUSION: Hook plate fixation was found to be superior to the modified Phemister technique with CC ligament augmentation using Mersilene tape in terms of CC distance maintenance, but there was no significant difference in the functional outcome after 5 years of follow-up. Both surgical methods are reliable options for the treatment of acute AC joint dislocation. Modified Phemister surgery with CC ligament augmentation using Mersilene tape is a relatively lower-cost option for acute AC joint dislocation without the need of a second surgery for implant removal.

Treatment of displaced fractures of the patella: Tension band wiring technique with the one-end or both-ends K-wire bending fixation method.

PURPOSE: Tension band wiring technique has been widely used for treating patellar fracture. Conventional techniques are associated with some complications and several modifications have been introduced to increase stabilization. The purpose of this study was to compare two different fixation techniques, the one-end and both-ends Kirschner wire bending fixation methods. METHODS: We retrospectively reviewed patient data from 2013 to 2017, including the age, sex, body height, body weight, BMI, lesion of injury, trauma mechanism, fracture displacement and classification, type of fixation, fracture healing duration, length of follow-up, clinical results and complications. The surgical outcome was assessed using the pain score (VAS), Lysholm knee score, and knee joint ROM. Plain radiographs were used to evaluate radiographic outcomes and assess the fracture union duration and hardware complications. We performed statistical analysis to compare these two different fixation techniques. RESULTS: There were no significant differences between the two groups in terms of demographic data, fracture healing duration, level of the K-wires, distance between the K-wires, or length of the K-wires over the patella length (all p > 0.05). There were significant differences in the VAS score, K-wire migration, flexion degree, ROM, and Lysholm score (all p < 0.001) between the two different fixation methods. CONCLUSION: The both-ends K-wire bending fixation method has a lower complication rate and results in a better clinical outcome than the one-end K-wire bending fixation method. This revised technique can effectively control both ends of the K-wires, thus eliminating the possibility of K-wire migration and improving the fixation stability.

Is coracoclavicular reconstruction necessary in hook plate fixation for acute unstable acromioclavicular dislocation?

BACKGROUND: Acromioclavicular joint (ACJ) dislocation is a relatively common shoulder injury. For the treatment of cases of severe ACJ dislocation (Rockwood type III-V), hook plate fixation is an easy-to-master and minimally-invasive approach to surgical intervention. Over stress on the acromion following hook plate fixation often leads to acromial complications such as osteolysis and loss of reduction. We hypothesized that suspensory reconstruction alongside hook plate fixation might provide a superior stability and reduce complications as compared with hook plate fixation alone. The purpose of the study was to assess the clinical and radiographic outcomes of these two surgical modalities. METHODS: We retrospectively enrolled 49 patients with acute ACJ dislocation from May 2010 to December 2018. Among them, 19 patients received hook plate fixation only (HP group), and 19 underwent concomitant hook plate fixation and loop suspension fixation with two mersilene sutures (HM group). The demographic data of the patients were recorded and analyzed. All patients underwent a shoulder X-ray initially, immediately postoperatively, and at 1, 3, 6 and 12 months to measure the relative coracoclavicular distance (rCCD). Clinical assessment of shoulder function outcome was conducted using the Constant Murley Score (CMS); the University of California at Los Angeles (UCLA) Shoulder Score was also measured at the latest follow-up. RESULTS: There were no significant differences in the demographic data between the two groups. With regards to the CMS and the UCLA score, the HM group and HP group both had excellent outcomes, and no significant differences in scores were observed between groups (CMS: 93.90 ± 6.16 versus 94.47 ± 7.26, p = 0.47; UCLA score: 32.84 ± 2.91 versus 34.32 ± 1.16, p = 0.07). However, the HM group demonstrated substantial superiority in terms of maintenance of the rCCD over the HP group (91.47 ± 27.47 versus 100.75 ± 48.70, p = 0.015). In addition, there was less subacromial osteolysis in the HM group than the HP group (52.6% versus 15.8%, p = 0.038). CONCLUSION: Both fixations yielded excellent functional outcomes. However, concomitant hook plate fixation with loop suspensory reconstruction demonstrated the fewer acromion complications and statistical differences in reduction maintenance with less clinical significance.

PK/PD modeling based on NO-ET homeostasis for improving management of sunitinib-induced hypertension in rats.

Sunitinib is an oral small molecule multitargeted tyrosine kinase inhibitor, which is currently used to treat severe cancers. Clinical research has shown that patients treated with sunitinib develop hypertension. As soon as sunitinib-induced hypertension appears, it is usual to administer anti-hypertension agent. But this treatment may cause acute blood pressure fluctuation which may lead to additional cardiovascular risk. The aim of this study is to establish a mathematical model for managing sunitinib-induced hypertension and blood pressure fluctuation. A mechanism-based PK/PD model was developed based on animal experiments. Then this model was used to perform simulations, thus to propose an anti-hypertension indication, according to which the anti-hypertension treatment might yield relative low-level AUC and fluctuation of blood pressure. The simulation results suggest that the anti-hypertension agent may yield low-level AUC and fluctuation of blood pressure when relative ET-1 level ranges from -15% to 5% and relative NO level is more than 10% compared to control group. Finally, animal experiments were conducted to verify the simulation results. Macitentan (30 mg/kg) was administered based on the above anti-hypertension indication. Compared with the untreated group, the optimized treatment significantly reduced the AUC of blood pressure; meanwhile the fluctuation of blood pressure in optimized treatment group was 70% less than that in immediate treatment group. This work provides a novel model with potential translational value for managing sunitinib-induced hypertension.

Hip arthroscopy-assisted reduction and fixation for femoral head fracture dislocations: Clinical and radiographic short-term results of seven cases.

PURPOSE: Femoral head fracture dislocations are serious articular fractures that are associated with soft tissue injuries and are challenging to treat. Arthroscopic surgery may be a way to treat fracture reduction and fixation, thereby avoiding the need for extensive arthrotomy. METHODS: We followed up a consecutive series of seven patients with femoral head fracture dislocation via a scope-assisted percutaneous headless screw fixation between 2016 and 2017. The clinical and radiological results were assessed. RESULTS: The locations of the fracture were all involving infra-foveal area. The mean follow-up duration was 18 (range 12-24) months. The mean Harris hip score was 90.8 (range 88-93) at the latest follow-up. None of the patients showed early osteoarthritis, heterotopic ossification, or avascular necrosis. The average maximal displacement of the fracture site was improved from preoperative 6.79 mm (range 4.21-12.32) to postoperative 2.76 mm (range 0.97-3.97). Concomitant intra-articular hip lesions secondary to traumatic hip dislocation can also be treated. CONCLUSION: Managing the infra-foveal fracture of the femoral head using arthroscopic reduction and fixation with headless screws can be a safe and minimally invasive option. More patients and longer follow-up are needed for a definite conclusion.

Association between EDAR Polymorphisms and Non-Syndromic Tooth Agenesis in the Chinese Han Population.

OBJECTIVE: To explore the relationship between single nuclear polymorphisms (SNPs) in ectodysplasin A receptor (EDAR) and EDAR-associated death domain (EDARADD) genes and non-syndromic tooth agenesis. METHODS: Ten putative SNPs in EDAR and EDARADD were selected, and a case-control study was conducted in 112 subjects with non-syndromic tooth agenesis and 112 normal control subjects. DNA was obtained from peripheral blood samples. Genotyping was performed by Sanger sequencing. RESULTS: Three SNPs (rs3749098, rs3749099, and rs10432616) in EDAR exhibited significant differences in the alleles and/or genotype frequencies between the case group (individuals with non-syndromic tooth agenesis) and control group (normal individuals). The T allele was identified in the SNP rs3749098 in 99.1% of the case group and in 96.0% of the control group (P = 0.0326). Regarding the SNP rs3749099, the C allele was identified in 99.1% of the case group and in 96.0% of the control group (P = 0.0326). Regarding the SNP rs10432616, the C allele was identified in 97.8% of the case group and in 100.0% of the control group (P = 0.0245). CONCLUSION: Our results suggested that SNPs in EDAR could be a pathogenic factor for non-syndromic tooth agenesis. Furthermore, EDAR can be regarded as a marker gene for the risk of tooth agenesis.

A mini-network balance model for evaluating the progression of cardiovascular complications in Goto-Kakizaki rats.

Cardiovascular complications represent a leading cause of mortality in patients with type 2 diabetes mellitus (T2DM). During such complicated progression, subtle variations in the cardiovascular risk (CVR)-related biomarkers have been used to identify cardiovascular disease at the incipient stage. In this study we attempt to integrally characterize the progression of cardiovascular complications and to assess the beneficial effects of metformin combined with salvianolic acid A (Sal A), in Goto-Kakizaki (GK) rats with spontaneous T2DM. The rats were treated with metformin (200 mg·kg-1·d-1, ig) alone or in combination with Sal A (1 mg·kg-1·d-1, ip) at ages from 8 to 22 weeks. During the treatment, the levels of asymmetric dimethylarginine, L-arginine, superoxide dismutase, malondialdehyde, glucose, high density lipoprotein and low density lipoprotein were assessed. Based on alterations in these biomarkers, a mini-network balance model was established using matrixes and vectors. Radar charts were created to visually depict the disruption of CVR-related modules (endothelial function, oxidative stress, glycation and lipid profiles). The description for the progression of cardiovascular disorder was quantitatively represented by u, the dynamic parameter of the model. The modeling results suggested that untreated GK rats tended to have more severe cardiovascular complications than the treatment groups. Metformin monotherapy retarded disease deterioration, whereas the combination treatment ameliorated the disease progression via restoring the balance. The current study, which focused on the balance of the mini-network and interactions among CVR-related modules, proposes a novel method for evaluating the progression of cardiovascular complications in T2DM as well as a more beneficial intervention strategy.

The Prognostic Value of Platelet Count in Patients With Hepatocellular Carcinoma: A Systematic Review and Meta-Analysis.

Thrombocytopenia has been acknowledged to be a crucial risk factor for cirrhosis formation and hepatocarcinogenesis in chronic liver diseases. However, to date, the association between platelet count (PLT) and the prognosis of hepatocellular carcinoma (HCC) remains inconsistent and controversial. The aim of the present study was to determine whether PLT could be used as a useful predictor of survival in patients with HCC. We performed systematic review in online databases, including PubMed, EmBase, and Web of Science, from inception until 2014. Studies were included if a statistical relationship was investigated between PLT and survival for HCC, and hazard ratio (HR) and 95% confidence intervals (CIs) for overall survival (OS) or recurrence-free survival (RFS) were provided. The quality of each included study was assessed by Newcastle-Ottawa scale score. To synthesize these studies, a random-effects model or a fixed-effects model was applied as appropriate. Then, we calculated heterogeneity, performed sensitivity analysis, tested publication bias, and did subgrouped and meta-regression analysis. Finally, we identified 33 eligible articles (published from 1998 to 2014) involved 5545 patients by retrieval. A low level of preoperative PLT was found to be significantly associated with a poor survival of HCC. Irrespective of the therapy used, the pooled HRs for OS and RFS were 1.41 (95% CI, 1.14-1.75) and 1.44 (95% CI, 1.13-1.83), respectively. Specifically, in patients who underwent liver resection, the pooled HRs for OS and RFS were 1.67 (95% CI, 1.22-2.27) and 1.44 (95% CI, 1.04-1.99), respectively. Furthermore, patients with preoperative thrombocytopenia (PLT < 100 × 109/L) had a worse OS (HR: 1.73, 95% CI, 1.29-2.32) and RFS (HR: 1.57, 95% CI, 1.31-1.87) in comparison with patients without thrombocytopenia. All our findings showed no significant changes due to the removal of any study or the use of an opposite-effects model, and there was no significant publication bias. The limitations of this meat-analysis were nonuniform cut-off values of PLT, high between-study heterogeneities, potential confounders, and a bias of publication year. A low preoperative PLT level results in an unfavorable outcome in HCC. PLT is a simple, inexpensive, and useful predictor of survival in patients with HCC.

Thrombocytopenia for prediction of hepatocellular carcinoma recurrence: Systematic review and meta-analysis.

AIM: To investigate the association between thrombocytopenia and relapse after treatment for hepatocellular carcinoma (HCC). METHODS: We searched the PubMed, EMBASE, and Web of Science databases to obtain eligible studies. The hazard ratios (HRs) values and 95% confidence intervals (CIs) were pooled by random effects model. Subsequently, we estimated the heterogeneity, performed a sensitivity analysis, determined the publication bias, and performed subgroup and meta-regression analyses. Study quality was assessed by using the Oxford Center for Evidence Based Medicine tool. RESULTS: We identified 18 eligible studies by retrieval (published during 2000-2014). Out of the 4163 patients with HCC who were recruited, 2746 (66.0%) experienced recurrence. In general, our meta-analysis suggested that low platelet count (PLT) before therapy significantly increased the probability of postoperative recurrence (HR = 1.53, 95%CI: 1.29-1.81). PLT was also valuable in the prediction of intrahepatic distant recurrence (HR = 1.49, 95%CI: 1.25-1.77). Subgroup and meta-regression analyses identified various therapeutic modalities as the source of a high degree of heterogeneity. The pooled HR values showed no obvious change when a single study was removed, but otherwise, an opposite-effects model was used. In addition, no significant publication bias was detected. CONCLUSION: Thrombocytopenia before treatment might be an inexpensive and useful predictor of postoperative recurrence in patients with HCC.

Prevalence of tooth agenesis in adolescent Chinese populations with or without orthodontics.

OBJECTIVE: To determine the prevalence of hypodontia in the general population and orthodontic population in adolescent Chinese Hans. METHODS: Two groups named the general population (6015 subjects) and the orthodontic population (2781 subjects) were investigated, respectively. The former came from the students of three general universities in North China and the latter came from patients coming to the Department of Orthodontics, Peking University School and Hospital of Stomatology for orthodontic consulting during the summer and winter holidays in 2008. The prevalence and average missing number of hypodontic teeth was investigated in the two groups. The distribution of missing teeth was analysed between jaw positions and between genders. RESULTS: The prevalence of tooth agenesis was found to be 5.89% for the general population group and 7.48% for orthodontic subjects. Tooth agenesis was more frequently found in females than in males in both of the two groups and showed a statistically significant difference (P < 0.01). Tooth agenesis was found more frequently in the mandible than in the maxilla in the general population but had no difference in the orthodontic population. The prevalence and the number of missing teeth were higher in the orthodontic population than in the general population. Tooth agenesis showed different characteristics in the two populations. The congenital absence of the second mandibular premolars and the maxillary lateral incisors increased in the orthodontic population. Gender difference in hypodontia expressed an opposite effect in the two groups. Although tooth agenesis was more frequently found in females than in males, males missed more teeth than females in the orthodontic population. CONCLUSION: Tooth agenesis showed different characteristics between the general and orthodontic adolescent Chinese populations.

Mini-midvastus total knee arthroplasty in patients with severe varus deformity.

Patients with severe varus deformity of the knee (≥15° varus) usually are not considered good candidates for minimally invasive total knee arthroplasty (TKA). The goal of this study was to retrospectively investigate outcomes in patients with severe varus deformity after minimally invasive TKA. A study group of 52 patients with a tibiofemoral mechanical axis of 195° or greater was compared with a matched control group of 55 patients with a tibiofemoral mechanical axis of less than 195°. Clinical and radiographic evaluations according to the American Knee Society rating system were obtained preoperatively and postoperatively, and postoperative patient satisfaction in the 2 groups was compared. All patients were followed at a mean of 3 years (range, 2-5 years). Preoperatively, clinical knee and function scores and range of motion were inferior in the study group compared with the control group (P<.001). However, at the latest follow-up, both groups of patients were satisfied with the clinical results, and no significant differences were found in the knee and function scores (P>.05). Radiographic evaluation showed no differences in the mechanical axis, femoral component valgus angle, and tibial component valgus angle, and all outliers of the radiographic parameters between the 2 groups postoperatively (P >.05). The study results showed that mini-midvastus TKA did not result in more inaccurate implant positioning in patients with severe varus deformity of the knee. The clinical outcome in the group with severe varus was comparable to that in the group with less severe varus

FoxM1 overexpression promotes epithelial-mesenchymal transition and metastasis of hepatocellular carcinoma.

AIM: To investigate the expression of forkhead box protein M1 (FoxM1) in the process of epithelial mesenchymal transition in hepatocellular carcinoma (HCC) and its role in metastasis. METHODS: FoxM1 and E-cadherin expression in HCC tissue microarray specimens was evaluated by immunohistochemical staining, and statistical methods were applied to analyze the correlation between FoxM1 and epithelial-mesenchymal transition (EMT). Kaplan-Meier analysis of the correlation between the FoxM1 expression level and recurrence or overall survival of HCC patients was performed. The expression of FoxM1, E-cadherin and snail homologue 1 (SNAI1) in HCC cell lines was evaluated by real-time reverse transcription-polymerase chain reaction and Western blot. Hepatocyte growth factor (HGF) was used to induce EMT and stimulate cell migration in HCC cells. The expression of FoxM1 and SNAI1 was regulated by transfection with plasmids pcDNA3.1 and siRNAs in vitro. The occurrence of EMT was evaluated by Transwell assay, morphologic analysis and detection of the expression of EMT markers (E-cadherin and vimentin). Luciferase and chromatin immunoprecipitation assays were used to evaluate whether SNAI1 is a direct transcriptional target of FoxM1. RESULTS: FoxM1 expression was increased significantly in HCC compared with para-carcinoma (10.7 ± 0.9 vs 8.2 ± 0.7, P < 0.05) and normal hepatic (10.7 ± 0.9 vs 2.7 ± 0.4, P < 0.05) tissues. Overexpression of FoxM1 was correlated with HCC tumor size, tumor number, macrovascular invasion and higher TNM stage, but was negatively correlated with E-cadherin expression in microarray specimens and in cell lines. FoxM1 overexpression was correlated significantly with HCC metastasis and EMT. In vitro, we found that FoxM1 plays a key role in HGF-induced EMT, and overexpression of FoxM1 could suppress E-cadherin expression and induce EMT changes, which were associated with increased HCC cell invasiveness. Next, we confirmed that FOXM1 directly binds to and activates the SNAI1 promoter, and we identified SNAI1 as a direct transcriptional target of FOXM1. Moreover, inhibiting the expression of SNAI1 significantly inhibited FoxM1-mediated EMT. CONCLUSION: FoxM1 overexpression promotes EMT and metastasis of HCC, and SNAI1 plays a critical role in FoxM1-mediated EMT.

A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia.

Oligodontia, which is the congenital absence of six or more permanent teeth, excluding the third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. Msh homeobox 1 (MSX1) was the first gene identified as causing non-syndromic oligodontia. In this study, we identified a novel heterozygous non-stop mutation (c.910_911dupTA, p.*304Tyrext*48) in MSX1 in a Chinese family with autosomal dominant non-syndromic oligodontia. This novel mutation substitutes the stop codon with a tyrosine residue, potentially adding 48 amino acids to the C-terminus of MSX1. Further in vitro study found that mutant MSX1 could be expressed but had lost its ability to enter the nucleus. This is the first report indicating that a non-stop mutation in MSX1 is responsible for oligodontia. This study broadens the mutation spectrum for MSX1 and provides a new way to clarify the mechanism of MSX1 in tooth agenesis.

[Association between AXIN2 polymorphism and oligodontia].

OBJECTIVE: To explore the association between AXIN2 polymorphism and oligodontia in Chinese population. METHODS: We employed 97 individuals diagnosed with sporadic non-syndromic oligodontia and 200 healthy control subjects. Their DNA was obtained from the whole blood or buccul swap samples and the genotyping was performed by polymerase chain reaction (PCR). RESULTS: Significant differences were observed in the allele and genotype frequencies of rs145353986 of AXIN2. Distributions of genotypes GG, GC and CC of rs145353986 polymorphism were significantly different between the case group and the control group (P = 0.011) and C allelic frequency was higher in the case group (P=0.002). CONCLUSION: These data demonstrate an association between rs145353986 of AXIN2 and non-syndromic oligodondia in the Chinese population. Furthermore, AXIN2 can be regarded as a marker gene for the risk of tooth agenesis.

Treatment of displaced intra-articular calcaneal fractures with combined transarticular external fixation and minimal internal fixation.

BACKGROUND: The aim of this study was to evaluate clinical outcomes after surgery for displaced intra-articular fractures using an external fixator and minimal internal fixation. METHODS: In this retrospective observational study, a total of 39 patients (32 [82%] men and 7 [18%] women) with 48 displaced intra-articular calcaneal fractures were included. An extended lateral approach was used to stabilize fractures using multiple sagittal plane screws, axial percutaneous threaded Kirschner wires for the frontal fracture plane, and an external fixator for reduction assistance and maintenance. The following variables were assessed: preoperative and postoperative Böhler's angle; calcaneal length, height, and width; postoperative American Orthopaedic Foot and Ankle Society (AOFAS) scores; and complications. Mean duration of follow-up was 74 ± 26 months. RESULTS: The mean time from surgery to external fixator removal was 12 ± 1 weeks. The mean preoperative Böhler's angle (-3 ± 21 degrees), calcaneal length (7.9 ± 0.6 cm), and calcaneal height (3.6 ± 0.5 cm) were significantly increased (P < .05) at final follow-up (28.3 ± 6.5, 8.3 ± 0.6, and 4.5 ± 0.5, respectively), whereas the mean preoperative calcaneal width (4.2 ± 0.5) was significantly decreased from the final follow-up mean (3.8 ± 0.5). There were no significant differences between any of the normal and postoperative measures. The mean AOFAS score was 82 ± 12. Complications included superficial pin tract infection (n = 7, 15%), superficial wound edge necrosis (n = 4, 8%), and deep infection (n = 2, 4%). CONCLUSION: Our findings suggest that use of an external fixator with minimal internal fixation is an effective option for treating displaced intra-articular calcaneal fractures. LEVEL OF EVIDENCE: Level IV, retrospective case series.

Ceramic-on-ceramic total hip arthroplasty: incidence and risk factors of bearing surface-related noises in 125 patients.

The ceramic-on-ceramic bearing surface has high wear resistance and good biocompatibility in total hip arthroplasty (THA). However, the postoperative noise problem has been an important issue. The purpose of this retrospective study was to determine the incidence and risk factors of bearing surface-related noises in patients with third-generation ceramic-on-ceramic THAs. One hundred twenty-five patients (143 hips) with ceramic-on-ceramic THAs were included in the study and followed to obtain noise and functional results. Patient factors, including sex, age, height, weight, body mass index, diagnosis, and postoperative range of motion, and surgical factors, including cup inclination, ceramic head size and length, and size of cup related to noises, were recorded. Mean follow-up was 4.2 years (range, 2-10 years). Mean Harris Hip Score was 94 points (range, 68-100 points) at latest follow-up. One (0.8%) patient had radiological evidence of osteolysis, and 4 (3.2%) patients had hip dislocation. No hip sustained a fracture of the ceramic component. Eight (6.4%) patients developed noise at their hips, including clicking in 4, grinding in 2, and snapping in 2. No patient developed squeaking hips or underwent revision surgery because of noisy hips. Younger patients (P=.01), a diagnosis of osteonecrosis (P=.014), a 28-mm ceramic head (P=.042), and a higher hip range of motion postoperatively (P=.001) were related to noise in ceramic-on-ceramic THAs. The study showed third-generation ceramic-on-ceramic THAs had a low incidence of noise problems. However, long-term follow-up is necessary to determine the clinical relevance.