scholarly journals A novel mutation of the folliculin gene causing Birt–Hogg–Dubé syndrome as rare cause for secondary pneumothorax

2020 ◽  
Vol 2020 (3) ◽  
Author(s):  
Melanie Vogl ◽  
Axel Scheed ◽  
Gernot Seebacher ◽  
Elisabeth Stubenberger ◽  
Bahil Ghanim
Keyword(s):  
Computed Tomography ◽  
Genetic Testing ◽  
Genetic Disease ◽  
Spontaneous Pneumothorax ◽  
Novel Mutation ◽  
Positive Family History ◽  
Renal Neoplasms ◽  
Primary Event ◽  
Computed Tomography Images ◽  
Pulmonary Cysts

Abstract The Birt–Hogg–Dubé syndrome is an orphan genetic disease characterized by the development of renal neoplasms, fibrofolliculomas, pulmonary cysts and spontaneous pneumothoraces. Here, we report on the case of a 21-year-old man presenting with a primary event of a persistent spontaneous pneumothorax. Computed tomography images and a positive family history for pneumothoraces led to the suspicion of Birt–Hogg–Dubé syndrome. Genetic testing then confirmed the suspected clinical diagnosis, however with a mutation that has not yet been reported.

scholarly journals Spontaneous pneumothorax and subpleural bullae in a patient with COVID-19: a 92-day observation

2020 ◽  
Vol 58 (4) ◽  
pp. 858-860
Author(s):  
Qianqian Fan ◽  
Feng Pan ◽  
Lian Yang
Keyword(s):  
Computed Tomography ◽  
Spontaneous Pneumothorax ◽  
Sudden Increase ◽  
Alveolar Pressure ◽  
Chest Computed Tomography ◽  
Computed Tomography Images

Abstract This report describes a patient with COVID-19 who developed spontaneous pneumothorax and subpleural bullae during the course of the infection. Consecutive chest computed tomography images indicated that COVID-19-associated pneumonia had damaged the subpleural alveoli and distal bronchus. Coughing might have induced a sudden increase in intra-alveolar pressure, leading to the rupture of the subpleural alveoli and distal bronchus and resulting in spontaneous pneumothorax and subpleural bullae. At the 92-day follow-up, the pneumothorax and subpleural bullae had completely resolved, which indicated that these complications had self-limiting features.

scholarly journals COVID-19 Pneumonia: Three Thoracic Complications in the Same Patient

Diagnostics ◽  
2020 ◽  
Vol 10 (7) ◽  
pp. 498
Author(s):  
Andrea Borghesi ◽  
Carlo Aggiusti ◽  
Davide Farina ◽  
Roberto Maroldi ◽  
Maria Lorenza Muiesan
Keyword(s):  
Computed Tomography ◽  
Pulmonary Embolism ◽  
Pulmonary Fibrosis ◽  
Spontaneous Pneumothorax ◽  
Acute Pulmonary Embolism ◽  
Morbidity And Mortality ◽  
Rare Finding ◽  
Computed Tomography Images ◽  
First Case ◽  
Increased Risk

The most dreaded thoracic complications in patients with coronavirus disease 2019 (COVID-19) are acute pulmonary embolism and pulmonary fibrosis. Both the complications are associated with an increased risk of morbidity and mortality. While acute pulmonary embolism is not a rare finding in patients with COVID-19 pneumonia, the prevalence of pulmonary fibrosis remains unclear. Spontaneous pneumothorax is another possible complication in COVID-19 pneumonia, although its observation is rather uncommon. Herein, we present interesting computed tomography images of the first case of COVID-19 pneumonia that initially developed acute pulmonary embolism and subsequently showed progression toward pulmonary fibrosis and spontaneous pneumothorax.

scholarly journals A Young Man with Bilateral Spontaneous Pneumothorax

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Liese Lieve Willemien Verhaert
Keyword(s):  
Spontaneous Pneumothorax ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Sudden Onset ◽  
Renal Tumors ◽  
High Resolution Computed Tomography ◽  
Thoracic Pain ◽  
Pulmonary Cysts ◽  
Lower Lung ◽  
Wide Variability

Case.A 33-year-old male nonsmoker presented with sudden onset of dyspnoea and thoracic pain. Chest radiograph showed a left-sided pneumothorax. Few days later he developed a right-sided pneumothorax. He had a positive family history of pneumothorax. High-resolution computed tomography of the chest showed multiple pulmonary cysts predominantly located in the lower lung regions. We suspected Birt-Hogg-Dubé syndrome (BHD).Conclusion.Birt-Hogg-Dubé syndrome is a rare autosomal dominant inherited genodermatosis and characterised by clinical manifestations including hamartomas of the skin, renal tumors, and pulmonary cysts with spontaneous pneumothorax. BHD is probably underdiagnosed because of the wide variability in its clinical expression. It is important to recognize these patients because of the possibility of developing renal cancer.

scholarly journals Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Rei Hirose ◽  
Yuya Tsurutani ◽  
Chiho Sugisawa ◽  
Kosuke Inoue ◽  
Sachiko Suematsu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Succinate Dehydrogenase ◽  
Novel Mutation ◽  
Case Reports ◽  
Site Mutation ◽  
Japanese Family ◽  
Paraganglioma Syndrome ◽  
Succinate Dehydrogenase Subunit B ◽  
Hereditary Pheochromocytoma ◽  
Subunit B

Abstract Background Pheochromocytoma and paraganglioma caused by succinate dehydrogenase gene mutations is called hereditary pheochromocytoma/paraganglioma syndrome. In particular, succinate dehydrogenase subunit B mutations are important because they are strongly associated with the malignant behavior of pheochromocytoma and paraganglioma . This is a case report of a family of hereditary pheochromocytoma/paraganglioma syndrome carrying a novel mutation in succinate dehydrogenase subunit B. Case presentation A 19-year-old Japanese woman, whose father died of metastatic paraganglioma, was diagnosed with abdominal paraganglioma, and underwent total resection. Succinate dehydrogenase subunit B genetic testing detected a splice-site mutation, c.424-2delA, in her germline and paraganglioma tissue. Afterwards, the same succinate dehydrogenase subunit B mutation was detected in her father’s paraganglioma tissues. In silico analysis predicted the mutation as “disease causing.” She is under close follow-up, and no recurrence or metastasis has been observed for 4 years since surgery. Conclusions We detected a novel succinate dehydrogenase subunit B mutation, c.424-2delA, in a Japanese family afflicted with hereditary pheochromocytoma/paraganglioma syndrome and found the mutation to be responsible for hereditary pheochromocytoma/paraganglioma syndrome. This case emphasizes the importance of performing genetic testing for patients with pheochromocytoma and paraganglioma suspected of harboring the succinate dehydrogenase subunit B mutation (that is, metastatic, extra-adrenal, multiple, early onset, and family history of pheochromocytoma and paraganglioma) and offer surveillance screening to mutation carriers.

scholarly journals Metal artifact reduction in computed tomography images based on developed generative adversarial neural network

2021 ◽  
Vol 24 ◽  
pp. 100573
Author(s):  
Goli Khaleghi ◽  
Mohammad Hosntalab ◽  
Mahdi Sadeghi ◽  
Reza Reiazi ◽  
Seied Rabi Mahdavi
Keyword(s):  
Neural Network ◽  
Computed Tomography ◽  
Artifact Reduction ◽  
Metal Artifact ◽  
Metal Artifact Reduction ◽  
Computed Tomography Images
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