Quantification of Bony Depression in Mastoid Region After Expander Implantation for Microtia Reconstruction in Hemifacial Microsomia.

Object: Three-stage expansion method represents the most common form of microtia reconstruction in hemifacial microsomia (HFM). Although the complication related expander has lowered owing to the current advances, bony depression in mastoid region in microtia patients with hemifacial microsomia was observed in clinical work. The aim of this study was to quantify bony depression after retroauricular expander implantation and identify associated factors. Methods: 42 patients were enrolled and studied prospectively utilizing 3-dimensional (3D) evaluation. Craniofacial computed tomography (CT) was performed before the first (pre-expansion) and the second stage (post-expansion) and 3D quantification was done to quantify bony depression in mastoid region by using CT data. Univariate analysis was performed to identify factors associated with bony depression in mastoid region. Results: The mean level of mastoid depression was 0.83 mm (range: 0.07-4.08 mm), and the max level of mastoid depression was 1.40 mm (range: 0.20-6.65 mm). In univariate analysis, capsular duration of expansion and expansion volume were associated factors with mastoid depression. Conclusion: This study showed the possibility of mastoid depression following expander implantation for microtia reconstruction in hemifacial microsomia. Plastic surgeons should be aware of the possibility and associated factors of bony depression in mastoid region following expander implantation to optimize microtia reconstruction for patients with HFM.

Whole genome sequencing analysis of four patients: Are de novo copy number variations in non-coding region responsible for microtia with lung hypoplasia?

BACKGROUND: Microtia is a congenital malformation of the out ear, occurring either as an isolated defect or part of a specific pattern of multiple congenital anomalies. The etiology of microtia is poorly understood. Four patients with microtia and lung hypoplasia were reported by our team in a previous article. The purpose of this study was to identify the underlying genetic basis, mainly focusing on de novo copy number variations (CNVs) embedded in the noncoding region, in the four subjects. METHODS: DNA samples from all four patients and their unaffected parents were extracted for whole-genome sequencing on the Illumina platform. All variants were obtained through data quality control, variant calling and bioinformatics analysis. De novo strategy was used to prioritize the variants, and candidate variants were verified by PCR amplification combined with Sanger sequencing and visual inspection of bam file. RESULTS: Whole gene sequencing following bioinformatics analysis showed no potential de novo pathogenic variants in the coding region. Nonetheless, four de novo CNVs in the non-coding region, intronic or intergenic, were identified in each subject, ranging in size from 10 Kb to 12.5 Kb, and all are deletions. Case 1 had a de novo deletion of 10 Kb on chromosome10q22.3, located in the intronic region of the LRMDA gene. The other three cases all had a de novo deletion in intergenic regions, located on chromosome 20q11.21, 7q31.1 and 13q12.13, respectively. CONCLUSIONS: This study reported multiple long-lived cases of microtia with pulmonary hypoplasia and provided genome-wide genetic analysis focusing on de novo mutations. Whether the de novo CNVs identified are responsible for the rare phenotypes remains an open question. However, the results of our study provided a new perspective that the unsolved etiology of microtia might involve in non-coding sequences, which have long been ignored.

Bibliometric Analysis of Microtia-Related Publications From 2006 to 2020.

OBJECTIVE: Microtia is a congenital auricular malformation with a hypoplastic external ear that ranges in severity from a slightly smaller auricle to complete the absence of the auricle. The present study was conducted to identify and analyze the characteristics of microtia-related articles published from 2006 to 2020 by using bibliometric analyses. METHOD: Microtia-related studies published from 2006 to 2020 were retrieved from the Web of Science Core Collection database. Keywords, first author, citations, date of publication, and publication journal were extracted and quantitatively analyzed using Bibliographic Item Co-Occurrence Matrix Builder software and the Bibliometric (https://bibliometric.com/app). VOSviewer was used to visualize research and form a network map on keywords and citations. RESULTS: A total of 1031 articles from 2006 to 2020 were included. The number of articles showed an overall trend of growth over time. The United States and China are the top 2 countries in terms of the number of microtia-related articles. From the analysis of keyword clustering, keywords could be mainly divided into 4 clusters in the field of microtia research: surgery, tissue engineering, epidemiology, and rehabilitation including hearing-related treatments, evaluation of effects, and quality of life after surgery. The top 10 most frequently cited papers from 2006 to 2020 were also extracted and analyzed. CONCLUSION: A bibliometric research of microtia-related articles from 2006 to 2020 was conducted. This study may be helpful to understand the current research status of microtia and find the research trends in this field, thus proposing future directions for microtia research.

Association between the rs3733846 in the flanking region of miR-143/145 and risk of cervical squamous cell carcinoma.

Aim: To investigate the effect of rs3733846 in the flanking region of miR-143/145 on susceptibility to cervical squamous cell carcinoma (CSCC). Materials & methods: We collected venous blood samples from 242 CSCC patients and 250 healthy controls. The rs3733846 polymorphism was genotyped by SnaPshot and Sanger sequencing. The expression of miR-143/145 in CSCC tissues was detected by quantitative real-time PCR. Results: The rs3733846 AG genotype was associated with a decreased risk of CSCC in genetic model (AGvs.AA: adjusted odds ratio [OR]: 0.44; 95% CI: 0.30-0.66; p < 0.001). Patients with the rs3733846 AG/GG genotypes had a reduced risk of developing poorly differential status (OR: 0.57; 95% CI: 0.33-0.98; p < 0.04) and lymph node metastasis (OR: 0.49; 95% CI: 0.26-0.92; p < 0.03). Conclusion: The rs3733846 in the flanking region of miR-143/145 was related to the susceptibility of CSCC.

Development of a heterologous enzyme-linked immunosorbent assay for the detection of clindamycin and lincomycin residues in edible animal tissues.

In this study, new clindamycin (CLIN) artificial antigens were prepared and used to produce broad-specificity monoclonal antibodies. Based on the as-produced mAbs, a heterologous ELISA was developed to detect CLIN and lincomycin (LIN) residues in edible animal tissues. The IC50 values of the developed assay were 0.3ng/mL (CLIN) and 1.2ng/mL (LIN) in buffer, respectively. The detection limits were estimated to be 1.8µg/kg (CLIN) and 6.8µg/kg (LIN) in bovine, chicken, porcine and fish muscles. In the spike and recovery tests, the mean recovery rate ranged from 76% to 112% at different spiked levels, and the intra-/inter-assay coefficients of variation were in the range of 7.1% to 13.2%. This method was verified using LC-MS/MS with a correlation coefficient >0.97. The developed ELISA is therefore well suited for simultaneous determination of CLIN and LIN residues in bovine, chicken, porcine and fish muscles.