Combining clinical, radiological and genetic approaches to pneumothorax management

被引：4

作者：

Grimes, Hannah L. ^{[1
]}

Holden, Simon ^{[2
]}

Babar, Judith ^{[3
]}

Karia, Sumit ^{[3
]}

Wetscherek, Maria T. A. ^{[3
]}

Barker, Allanah ^{[3
]}

Herre, Jurgen ^{[4
]}

Knolle, Martin D. ^{[4
]}

Maher, Eamonn R. ^{[5
]}

Marciniak, Stefan John ^{[1
,4
,6
,7
]}

机构：

[1] Univ Cambridge, Med, Cambridge CB2 0XY, England

[2] Addenbrookes Hosp, Clin Genet, Cambridge, England

[3] Addenbrookes Hosp, Dept Radiol, Cambridge, England

[4] Addenbrookes Hosp, Cambridge, England

[5] Univ Cambridge, Clin Genet, Cambridge, England

[6] Univ Cambridge, Cambridge Inst Med Res CIMR, Cambridge, England

[7] Royal Papworth Hosp, Resp Med, Cambridge, England

来源：

THORAX | 2022年 / 77卷 / 02期

关键词：

pleural disease;

D O I：

10.1136/thoraxjnl-2021-217210

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Familial spontaneous pneumothorax (FSP) accounts for 10% of primary spontaneous pneumothoraces. Appropriate investigation of FSP enables early diagnosis of serious monogenic diseases and the practice of precision medicine. Here, we show that a pneumothorax genetics multidisciplinary team (MDT) can efficiently diagnose a range of syndromic causes of FSP. A sizeable group (73.6%) of clinically unclassifiable FSPs remains. Using whole genome sequencing we demonstrate that most of these cases are not known monogenic disorders. Therefore, clinico-radiological assessment by an MDT has high sensitivity for currently known clinically important monogenic causes of FSP, which has relevance for the design of efficient pneumothorax services.

引用

页码：196 / 198

页数：3

共 50 条

[1] Idiopathic granulomatous mastitis: clinical, histopathological, and radiological characteristics and management approaches
Muayad I. Azzam
Fatima Alnaimat
Majed W. Al-Nazer
Heyam Awad
Ghada Odeh
Mahasen Al-Najar
Suzan Alsayed
Layal El-Asir
Rami Addasi
Jamal Masad Melhem
Nadera J. Sweiss
Rheumatology International, 2023, 43 : 1859 - 1869
[2] Idiopathic granulomatous mastitis: clinical, histopathological, and radiological characteristics and management approaches
Azzam, Muayad I.
Alnaimat, Fatima
Al-Nazer, Majed W.
Awad, Heyam
Odeh, Ghada
Al-Najar, Mahasen
Alsayed, Suzan
El-Asir, Layal
Addasi, Rami
Melhem, Jamal Masad
Sweiss, Nadera J.
RHEUMATOLOGY INTERNATIONAL, 2023, 43 (10) : 1859 - 1869
[3] Will the presence of radiological signs of tension pneumothorax affect the clinical presentation of primary spontaneous pneumothorax?
Aljehani Y.
Almajid F.
Alsaif H.
Emergency Radiology, 2018, 25 (3) : 299 - 302
[4] Is Tension Pneumothorax a Radiological Diagnosis or Should It Remain a Clinical Diagnosis?
Agapian, John
Wang, Yuxuan
Tschen, Jose
Molkara, Afshin
CHEST, 2014, 145 (03)
[5] PNEUMOTHORAX AND PNEUMOMEDIASTINUM IN NEWBORN - CLINICAL AND RADIOLOGICAL STUDY OF 80 OBSERVATIONS
PONTE, C
REMY, J
BONTE, C
LEQUIEN, P
LACOMBE, A
ARCHIVES FRANCAISES DE PEDIATRIE, 1971, 28 (04): : 450 - &
[6] Radiological review of pneumothorax
O'Connor, AR
Morgan, WE
BMJ-BRITISH MEDICAL JOURNAL, 2005, 330 (7506): : 1493 - 1497
[7] Hepatic arterial catheterization combining interventional radiological and laparotomic approaches
Watanabe, M
Takita, W
Nakazaki, H
Tanemura, H
Kaneko, H
Kobayashi, K
JOURNAL OF SURGICAL ONCOLOGY, 2004, 88 (04) : 256 - 260
[8] The Importance of Genetic Factors in the Management of Spontaneous Pneumothorax
Kenki Matsumoto
Stefan J. Marciniak
Current Pulmonology Reports, 2020, 9 : 47 - 55
[9] The Importance of Genetic Factors in the Management of Spontaneous Pneumothorax
Matsumoto, Kenki
Marciniak, Stefan J.
CURRENT PULMONOLOGY REPORTS, 2020, 9 (02) : 47 - 55
[10] SPONTANEOUS PNEUMOTHORAX - CLINICAL DIAGNOSIS AND MANAGEMENT
TYSINGER, DS
MENEELY, GR
AMERICAN JOURNAL OF SURGERY, 1955, 89 (02): : 360 - 363

← 1 2 3 4 5 →