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结节病的表型分析:一项单机构回顾性分析。

Phenotyping sarcoidosis: a single institution retrospective analysis.

作者信息

Bertuccio Francesco Rocco, Piloni Davide, Russo Marianna, Tousa Fady, Crescenzi Mariachiara, Putignano Paola, Baio Nicola, Maragò Ida, Corsico Angelo Guido, Stella Giulia Maria

机构信息

Cardiothoracic and Vascular Department, Unit of Respiratory Disease, IRCCS Policlinico San Matteo, Pavia, Italy.

Department of Internal Medicine and Pharmacology, University of Pavia, Pavia, Italy.

出版信息

Front Med (Lausanne). 2025 May 7;12:1590102. doi: 10.3389/fmed.2025.1590102. eCollection 2025.

Abstract

INTRODUCTION

Sarcoidosis is a systemic disorder marked by the presence of non-caseating epithelioid cell granulomas. The diagnosis relies on a consistent clinical presentation, histological evidence of non-necrotizing granulomatous inflammation in one or more tissue specimens, and the exclusion of other potential etiologies of granulomatous disease. It is a heterogeneous disease with many focal points to be clarified. For instance, finding a relationship between symptom burden, race, gender, HRQoL, and pulmonary function could have therapeutic ramifications, influence clinical practice, and aid in selecting patients for specific clinical studies.

METHODS

A comprehensive statistical evaluation was conducted using the JMP partitioning algorithm which explores all potential divisions to identify the most predictive variables.

RESULTS

With our analysis, we tried to categorize patients from a single Institution respiratory unit to delineate clinical phenotypes in sarcoidosis.

CONCLUSIONS

Larger studies using appropriate methodology should surely be carried out to address this issue and help clarify the varying contributions of genetics, socioeconomic status, environmental exposures, and other sociodemographic factors to illness severity and phenotypic presentation. Additionally, the application of transcriptomics, interdisciplinary methods, patients' disease perspectives, and the publishing of novel discoveries may contribute to enhanced clinical support and a deeper comprehension of the etiology of illness.

摘要

引言

结节病是一种以非干酪样上皮样细胞肉芽肿为特征的全身性疾病。诊断依赖于一致的临床表现、一个或多个组织标本中存在非坏死性肉芽肿性炎症的组织学证据,以及排除肉芽肿性疾病的其他潜在病因。它是一种具有许多有待阐明的焦点问题的异质性疾病。例如,找出症状负担、种族、性别、健康相关生活质量和肺功能之间的关系可能会对治疗产生影响、影响临床实践,并有助于为特定临床研究选择患者。

方法

使用JMP分区算法进行了全面的统计评估,该算法探索所有潜在的划分以识别最具预测性的变量。

结果

通过我们的分析,我们试图对来自单个机构呼吸科的患者进行分类,以描绘结节病的临床表型。

结论

当然应该采用适当的方法开展更大规模的研究来解决这个问题,并有助于阐明遗传因素、社会经济地位、环境暴露以及其他社会人口学因素对疾病严重程度和表型表现的不同影响。此外,转录组学的应用、跨学科方法、患者对疾病的看法以及新发现的发表可能有助于加强临床支持并更深入地理解疾病的病因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/52ef/12092213/ad002559271d/fmed-12-1590102-g0001.jpg

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