Identification of Hub Genes in Hemifacial Microsomia: Evidence From Bioinformatic Analysis.

OBJECTIVE: This thesis addresses a neglected aspect of bioinformatics research of hemifacial microsomia (HFM). Existing research stops short of prediction based on big data. This study combines multiple databases to explore underlying pathogenesis using bioinformatic approach. METHODS: The research consisted of multiple bioinformatic methods, included pathogenic genes analyses, protein-protein interaction network construction, functional enrichment, and mining target genes related miRNA, for studying pathogenic genes of HFM. RESULTS: Total of 140 genes were identified as potential genes in the study. The protein-protein interaction networks for pathogenic genes were constructed, which contained 138 nodes and 243 edges with RAF1, MAP2K1, MAP2K2, MAPK3, MAPK1, EGFR, BRAF, LMNA, ESPR1, and SFN as the hub genes. These genes were discovered significantly enriched in MAPK pathway. Besides, the whole of interactions between miRNAs and the top 5 hub genes were revealed. CONCLUSIONS: Our results indicated that occurrence of HFM is attributed to a variety of genes. Furthermore, the interactions of pathogenic genes were further elucidated by using bioinformatics approach. It reveals the MAPK pathway play an essential role in its pathogenesis. It may provide a novel perspective on better understanding the pathogenesis and more accurate early screening of HFM.

Mandibular Distraction Osteogenesis First for Children With Severe Unilateral Hemifacial Microsomia: Treatment Strategy and Outcomes.

ABSTRACT: The treatment for severe hemifacial microsomia (HFM), especially type III case, is extremely difficult. Mandibular distraction osteogenesis (MDO) was rarely used as the primary choice in the treatment of severe type cases. The authors sought to observe the short-term therapeutic outcomes of patients with severe unilateral HFM who underwent MDO first.A retrospective study of children underwent MDO or later received costochondral graft (CCG) for severe unilateral HFM from 2009 to 2019 was conducted. Cephalometric measurements and clinical variables were analyzed to evaluate the effectiveness of MDO first strategy for severe cases and compare disparity between Pruzansky-Kaban classification type IIb and type III groups.Thirty-six patients (23 males and 13 females) underwent MDO first for severe HFM were included for analysis in the present study. The average age at MDO was 8.33 ±â€Š2.03 years. At the last follow-up, MDO acquired significant improvement in mandibular height, maxillary cant, chin deviation, lip commissural line tilt, and clinical chin deviation (P < 0.05). Distraction results were stable during the short-term follow-up in terms of the mandibular height ratio and maxillary cant (P > 0.05).MDO is a proper primary method for suitable type IIb and type III HFM cases. MDO can immediately and significantly improve the facial skeleton deficiency, extend the associated soft tissue at the same time, and lay foundation for secondary surgery. MDO can achieve the downgrade of HFM deficiency severity. MDO followed by costochondral graft can get satisfactory esthetic and structural consequence for type III patients.

Three-Dimensional Measurement of Oropharynx and Laryngopharynx in Children With Hemifacial Microsomia.

OBJECTIVE: This study focused on evaluating different parts of the airway in patients with hemifacial microsomia classified by the Pruzansky-Kaban classification system. METHODS: Volumetric and morphologic airway parameters of 66 children with hemifacial microsomia were measured on 3D models. Using the Pruzansky-Kaban system, the patient cohort was composed of seven I-type, 14 IIa type, 27 IIb type, and 18 III type patients. RESULTS: The total airway volume was not statistically different among groups. In the 3D oropharynx models, volume and surface area of the oropharynx decreased from the type I group to the type IIb group. However, no statistically significant difference was found for length (P = 0.965) or minimum cross-sectional area (mini-CSA, P = 0.550) of the oropharynx in the type III group compared to the other groups. In the 3D laryngopharynx models, the mean-CSA (P = 0.413) and mini-CSA (P = 0.378) were not statistically different among groups. In contrast, volume (P = 0.014), length (P = 0.005), and surface area (P = 0.032) of the laryngopharynx were reduced from type I to type III. Kruskal-Wallis analysis indicated statistically significant differences of volume (P = 0.004), length (P = 0.017), and surface area (P = 0.010) of the laryngopharynx among groups I, IIa, and IIb. The mean-CSA (P = 0.247) and mini-CSA (P = 0.206) of the laryngopharynx were not correlated with the different clinical types. CONCLUSION: The mean-CSA varied significantly from type I to IIb at the level of oropharynx. In addition, the volume of the laryngopharynx decreased from type I to type III. However, type III was unique in this study with nonseverely airway measurement results.

Commensal microbiome dysbiosis elicits interleukin-8 signaling to drive fibrotic skin disease.

Wound healing is an intensely studied topic involved in many relevant pathophysiological processes, including fibrosis. Despite the large interest in fibrosis, the network that is related to commensal microbiota and skin fibrosis remains mysterious. Here, we pay attention to keloid, a classical yet intractable skin fibrotic disease to establish the association between commensal microbiota to scaring tissue. Our histological data reveal the presence of microbiota in the keloids. 16S rRNA sequencing characterizes microbial composition and divergence between the pathological and normal skin tissues. Moreover, the data show elevation of interleukin-8 (IL-8) in both the circulation and keloid tissue, which elicited the collagen accumulation and migratory program of dermal fibroblasts via CXCR1/2 receptor. Our research provides insights into the pathology of human fibrotic diseases, advocating commensal bacteria and IL-8 signaling as useful targets in future interventions of recurrent keloid disease.

The influences of distraction osteogenesis therapy on airway morphology in patients with craniofacial microsomia.

The aim of this study was to explore how mandibular distraction osteogenesis influences morphological changes in the oropharynx and laryngopharynx. This was a retrospective study of airway parameter measurements in CFM patients undergoing mandibular distraction osteogenesis treatment. The indication for surgical treatment was the obvious facial asymmetry. Mimics 17.0 (Materialise Inc., Belgium) was used to build 3D models of the oro- and laryngopharynx. The minimum cross-sectional area (CSA), mean CSA, volume, length, and surface area were measured in the 3D models. All data were entered into SPSS v. 23.0 (SPSS Inc. USA), with statistical differences assessed pre- and postoperatively using the Wilcoxon test. Thirty-two patients diagnosed with CFM were included in this study. Five were classified as type IIa, 21 as type IIb, and six as type III, using the Pruzansky-Kaban classification. The average age of the patients was 8.34 years; 14 were females and 18 were males. The average traction time was 35.59 days and the average length of traction was 35.81 mm. The total volume of the airway was significantly increased after MDO (p = 0.001). In the oropharynx and laryngopharynx segments, the mean CSA, minimum CSA, and surface area were statistically significantly different. According to the results, expansion of oropharynx and laryngopharynx were evident after MDO. Mandibular distraction osteogenensis (MDO) can expand the volume of the oropharynx and laryngopharynx. Therefore, MDO can be considered a clinically useful treatment for changing the structure of the oropharynx and laryngopharynx.