Trends in Blood Mosaicism and Clinical Phenotype Score in Patients with Beckwith-Wiedemann Syndrome Evaluated for Tongue Reduction Surgery.

IF 3.2 2区医学 Q1 SURGERY Plastic and reconstructive surgery Pub Date : 2025-03-01 Epub Date: 2024-03-19 DOI:10.1097/PRS.0000000000011404

Dominic J Romeo, Connor S Wagner, Benjamin B Massenburg, Neil Reddy, Meagan Wu, Jinggang J Ng, Madison DeMarchis, Eric C Liao, Jennifer M Kalish, Jesse A Taylor

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Abstract

Background: Most patients with Beckwith-Wiedemann syndrome (BWS) have macroglossia, with some requiring tongue reduction surgery (TRS). This study reports correlations between levels of affected cells (mosaicism) and BWS clinical score in patients evaluated for TRS. The authors also show correlations of clinical score and mosaicism with obstructive sleep apnea (OSA) severity.

Methods: Blood mosaicism levels and BWS clinical score were recorded in patients with macroglossia referred to plastic surgery for evaluation. Associations among blood mosaicism, BWS clinical score, TRS, and OSA were assessed with appropriate statistics.

Results: Of the 225 patients included, BWS blood testing was available in 128 (56.9%). Mosaicism levels were higher in those who underwent TRS compared with those who did not (85.9% [56.5 to 95.9] versus 29.7% [2.8 to 73.1]; P < 0.001). BWS clinical score was also higher in those requiring TRS (9.0 [8.0 to 11.0] versus 7.0 [6.0 to 9.0]; P < 0.001). There was a positive correlation between clinical score and obstructive apnea-hypopnea index ( r = 0.320, P = 0.011). Receiver operating characteristic curve analysis showed that a clinical score of 11 or greater had 100% specificity and 36.4% sensitivity for detecting patients requiring TRS. Blood mosaicism of 80% or greater had 63.6% sensitivity and 83.6% specificity for predicting surgery. A combined criteria of BWS clinical score of 11 or greater or mosaicism of 80% or greater had 72.7% sensitivity and 83.6% specificity for predicting TRS.

Conclusions: Blood mosaicism levels and higher BWS clinical scores seem to be associated with a greater frequency of having surgery in patients with macroglossia referred for surgical evaluation. Elevations in BWS clinical scoring are associated with increased OSA severity; increased blood mosaicism is not.

Clinical question/level of evidence: Risk, III.

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接受缩舌手术评估的贝克维茨-韦德曼综合征患者的血液嵌合率和临床表型评分趋势。

导言：大多数贝克维茨-韦德曼综合征（BWS）患者都有巨舌症，其中一些患者需要进行缩舌手术（TRS）。本研究报告了接受 TRS 评估的患者受影响细胞水平（嵌合）与 BWS 临床评分之间的相关性。我们还显示了临床评分和嵌合度与阻塞性睡眠呼吸暂停（OSA）严重程度的相关性：方法：对转诊至整形外科进行评估的巨舌症患者的血液嵌合水平和 BWS 临床评分进行记录。结果：在纳入的 225 名患者中，BWS 临床评分、TRS 和 OSA 之间的相关性通过适当的统计学方法进行了评估：在纳入的 225 名患者中，有 128 人（56.9%）接受了 BWS 血液检测。结果：在纳入的 225 名患者中，128 人（56.9%）接受了 BWS 血液检测，接受 TRS 检测者的嵌合水平高于未接受 TRS 检测者（85.9 85.9 (56.5-95.9)% vs. 29.7 (2.8-73.1)%, pConclusion）：在转诊进行手术评估的巨舌症患者中，血液嵌合水平和较高的 BWS 临床评分似乎与较高的手术频率有关。BWS临床评分的升高与OSA严重程度的增加有关，而血液嵌合度的升高则与之无关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Plastic and reconstructive surgery 医学-外科

CiteScore

5.00

自引率

13.90%

发文量

1436

审稿时长

1.5 months

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