直肠形丸评估可能有助于希尔施普朗格诊断
Abigail J Alexander1, Scott S Short1, Angelica Putnam2
1Department of Surgery, Primary Children's Hospital, University of Utah, Salt Lake City, Utah.
The Journal of surgical research
|April 23, 2025
概括
直肠瘤 (ARM) 患者的直肠瘤样本中缺少状细胞可能表明并发的赫斯普朗格病 (HD). 这一发现在染色体异常患者中更为频繁,有助于早期诊断.
科学领域:
- 儿科手术 儿科手术
- 胃肠病学 胃肠病学
- 遗传学 是一个遗传学.
背景情况:
- 希尔施普伦格病 (HD) 和直肠形 (ARM) 的同时发生很少,但在临床上具有意义.
- 在ARM患者中早期诊断并发性HD对于有效管理至关重要.
研究的目的:
- 确定与ARM相关的直肠管中的典型组织学发现.
- 识别可暗示同时出现HD的组织学指标.
主要方法:
- 对86名ARM患者的病理学报告和杆样本进行了回顾性审查.
- 在杆样本中评估质细胞.
- 儿科结直肠和盆腔学习联盟对ARM和HD患者的数据库查询.
主要成果:
- 在91%的ARM囊样本中存在质细胞;在6%的样本中发现了低质性.
- 4%的样本中缺少状细胞,其中66%的样本也患有三体 21.
- 在联盟数据库中观察到,同期ARM和HD的流行率为0.7%,其中33%具有染色体异常.
结论:
- 大多数ARM囊样本都含有质细胞.
- 在ARM囊样本中缺少质细胞,可以怀疑并发性HD.
- ARM,HD和染色体异常之间的关联可能比以前认为的更为常见.
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