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Fetal microtia and FGFR2 polymorphism.

ABSTRACT: Association of the single-nucleotide polymorphism (SNP) of rs3135718 site in fibroblast growth factor receptor 2 (FGFR2) gene with congenital microtia was investigated. A total of 193 patients with congenital microtia (observation group) and 150 normal and healthy fetuses (control group) treated in Maternity and Child Health Care of Zaozhuang from January 2010 to October 2017 were randomly selected. The gene and genotype of the rs3135718 site of FGFR2 gene SNP were detected via quantitative polymerase chain reaction (qPCR). The association between rs3135718 site SNP and congenital microtia was analyzed. No statistically significant difference in the prevalence of congenital microtia was observed in the rs3135718 genotype (AG) between the observation and control group (P>0.05). The GG and G genotypes in rs3135718 were closely related to fetal microtia (P<0.05). Results revealed that the rs3135718-GG mutation was more correlated with the risk of microtia in male (P<0.05), but not correlated with the risk of microtia in female (P>0.05). Moreover, there was a statistically significant difference in the distribution of rs3135718-G allele frequency in male between the two groups (P<0.05). The rs3135718-G gene in FGFR2 has a certain association with the incidence of congenital microtia with high prevalence and risk.

SUBMITTER: Zhao R

PROVIDER: S-EPMC6566112 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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Fetal microtia and FGFR2 polymorphism.

Zhao Ruilian R Du Peixia P Sun Hongmei H Yang Li L Lin Pingzhen P

Experimental and therapeutic medicine 20190510 1

Association of the single-nucleotide polymorphism (SNP) of rs3135718 site in fibroblast growth factor receptor 2 (FGFR2) gene with congenital microtia was investigated. A total of 193 patients with congenital microtia (observation group) and 150 normal and healthy fetuses (control group) treated in Maternity and Child Health Care of Zaozhuang from January 2010 to October 2017 were randomly selected. The gene and genotype of the rs3135718 site of FGFR2 gene SNP were detected via quantitative poly ...[more]

PMID: 31258676

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Project description:Current methods of microtia reconstruction include carving an auricular framework from the costal synchondrosis. This requires considerable skill and may create a substantial defect at the donor site.To present a modular component assembly (MCA) approach that minimizes the procedural difficulty with microtia repair and reduces the amount of cartilage to a single rib.Ex vivo study and survey. A single porcine rib was sectioned into multiple slices using a cartilage guillotine, cut into components outlined by 3-dimensional printed templates, and assembled into an auricular scaffold. Electromechanical reshaping was used to bend cartilage slices for creation of the helical rim. Chondrocyte viability was confirmed using confocal imaging. Ten surgeons reviewed the scaffold constructed with the MCA approach to evaluate aesthetics, stability, and clinical feasibility. The study was conducted from June 5 to December 18, 2014.The primary outcome was creation of a modular component assembly method that decreases the total amount of rib needed for scaffold construction, as well as overall scaffold acceptability. The surgeons provided their assessments through a Likert-scale survey, with responses ranging from 1 (disagree with the statement) to 5 (agree with the statement). Thus, a higher score represents that the surgeon agrees that the scaffold is structurally and aesthetically acceptable and feasible.An auricular framework with projection and curvature was fashioned from 1 rib. The 10 surgeons who participated in the survey indicated that the MCA scaffold would meet minimal aesthetic and anatomic acceptability. When embedded under a covering, the region of the helix and antihelix of the scaffold scored significantly higher on the assessment survey than that of an embedded alloplast implant (mean [SD], 4.6 [0.97] vs 3.5 [1.27]; P?=?.007). Otherwise, no significant difference was found between the embedded MCA and alloplast implants (4.42 [0.48] vs 3.87 [0.41]; P?=?.13). Cartilage prepared with electromechanical reshaping was viable.This study demonstrates that 1 rib can be used to create an aesthetic and durable framework for microtia repair. Precise assembly and the ability to obtain thin, uniform slices of cartilage were essential. This cartilage-sparing MCA approach may be an alternative to classic techniques.NA.

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Fetal microtia and FGFR2 polymorphism.

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Fetal microtia and FGFR2 polymorphism.

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