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鳃裂畸形的临床特征

Clinical Characteristics of Branchial Cleft Anomalies.

作者信息

Rowlands Neil, Russo Catherine, Liu Kevin, Yassall Anthony, Chiang Tendy, Ho Mai-Lan

机构信息

From the Ohio University College of Osteopathic Medicine (N.R., A.Y.), Dublin, Ohio.

The Ohio State University (C.R.), Columbus, Ohio.

出版信息

AJNR Am J Neuroradiol. 2025 Apr 2;46(4):815-819. doi: 10.3174/ajnr.A8604.

Abstract

BACKGROUND AND PURPOSE

Branchial cleft anomalies (BCA) are a group of relatively common congenital pediatric neck masses, which exhibit wide variability in clinical presentation and treatment approaches. This study attempts to fill this gap by evaluating BCA clinical, radiographic, and treatment features in a large cross-sectional cohort.

MATERIALS AND METHODS

We performed a retrospective cross-sectional study of patients with BCA presenting to a single pediatric quaternary care center between 2017 and 2023. The radiology information system was queried for the term "branchial," with diagnostic confirmation based on radiology and medical records review including patient demographics, clinical presentation and symptoms, genetic testing, interventions, and pathology. Relevant statistical tests were performed.

RESULTS

We retrospectively identified 302 unique patients with 412 imaging examinations that included the term "branchial" in the radiology information system between 2017 and 2023. The final cohort included 167 patients with a total of 246 imaging examinations. Among patients with BCA, median age at presentation was 3.3 years (range 0-22.9). Leading clinical presentations included a neck mass (88%, 147) and skin drainage (29%, 29). BCA classification was first in 37% (61), second in 44% (73), third in 4% (7), and fourth in 15% (26). Interventions included incision and drainage in 70% (121) and complete excision in 54% (91). Among patients with resected BCA, 22% (20/91) experienced at least 1 recurrence.

CONCLUSIONS

BCA have diverse clinical manifestations for which imaging aids in localization, classification, and interventional planning.

摘要

背景与目的

鳃裂畸形(BCA)是一组相对常见的先天性小儿颈部肿块,其临床表现和治疗方法具有很大差异。本研究试图通过评估一个大型横断面队列中的BCA临床、影像学和治疗特征来填补这一空白。

材料与方法

我们对2017年至2023年期间在一家单一的儿科四级护理中心就诊的BCA患者进行了回顾性横断面研究。通过放射学信息系统查询“鳃裂”一词,并根据放射学和病历审查进行诊断确认,审查内容包括患者人口统计学、临床表现和症状、基因检测、干预措施和病理学。进行了相关的统计检验。

结果

我们回顾性确定了302例独特患者,他们在2017年至2023年期间进行了412次包含放射学信息系统中“鳃裂”一词的影像学检查。最终队列包括167例患者,共进行了246次影像学检查。在BCA患者中,就诊时的中位年龄为3.3岁(范围0 - 22.9岁)。主要临床表现包括颈部肿块(88%,147例)和皮肤引流(29%,29例)。BCA分类为第一型的占37%(61例),第二型的占44%(73例),第三型的占4%(7例),第四型的占15%(26例)。干预措施包括70%(121例)进行切开引流,54%(91例)进行完整切除。在接受BCA切除的患者中,22%(20/91)经历了至少1次复发。

结论

BCA具有多种临床表现,影像学有助于其定位、分类和干预计划的制定。

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