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BACKGROUND@#Primary spontaneous pneumothorax (PSP) is a common manifestation of Birt-Hogg-Dubé (BHD) syndrome, which is an autosomal dominant disorder caused by mutation of the folliculin (FLCN) gene. This study was established to investigate the mutation of the FLCN gene and the phenotype in a family with PSP.@*METHODS@#We investigated the clinical and genetic characteristics of a large Chinese family with recurrent spontaneous pneumothorax. Genetic testing was performed by Sanger sequencing of the coding exons (4-14 exons) of the FLCN gene.@*RESULTS@#Among ten affected members in a multi-generational PSP kindred, with a total of 18 episodes of spontaneous pneumothorax, the median age for the initial onset of pneumothorax was 42.5 years (interquartile range: 28.8-57.2 years). Chest computed tomography scan of the proband showed pulmonary cysts and pneumothorax. A novel nonsense mutation (c.1273C>T) in exon 11 of FLCN gene that leads to a pre-mature stop codon (p.Gln425*) was identified in the family. The genetic analysis confirmed the diagnosis of BHD syndrome in this family in the absence of skin lesions or renal tumors.@*CONCLUSIONS@#A novel nonsense mutation of FLCN gene was found in a large family with PSP in China. Our results expand the mutational spectrum of FLCN gene in patients with BHD syndrome.
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Background@#Primary spontaneous pneumothorax (PSP) is a common manifestation of Birt-Hogg-Dubé (BHD) syndrome, which is an autosomal dominant disorder caused by mutation of the folliculin (FLCN) gene. This study was established to investigate the mutation of the FLCN gene and the phenotype in a family with PSP.@*Methods@#We investigated the clinical and genetic characteristics of a large Chinese family with recurrent spontaneous pneumothorax. Genetic testing was performed by Sanger sequencing of the coding exons (4-14 exons) of the FLCN gene.@*Results@#Among ten affected members in a multi-generational PSP kindred, with a total of 18 episodes of spontaneous pneumothorax, the median age for the initial onset of pneumothorax was 42.5 years (interquartile range: 28.8-57.2 years). Chest computed tomography scan of the proband showed pulmonary cysts and pneumothorax. A novel nonsense mutation (c.1273C>T) in exon 11 of FLCN gene that leads to a pre-mature stop codon (p.Gln425*) was identified in the family. The genetic analysis confirmed the diagnosis of BHD syndrome in this family in the absence of skin lesions or renal tumors.@*Conclusions@#A novel nonsense mutation of FLCN gene was found in a large family with PSP in China. Our results expand the mutational spectrum of FLCN gene in patients with BHD syndrome.
RESUMO
<p><b>OBJECTIVE</b>To evaluate the feasibility and safety of early chest tube removal after lobectomies for lung diseases.</p><p><b>METHODS</b>A prospective randomized control study was performed with data collected from lobectomies between March 2012 and September 2012. Eligible patients (n = 70) were randomized into two groups; early removal group (removal of chest tube when drainage less than 300 ml/24 h, n = 41) and traditional management group (removal of chest tube when drainage less than 100 ml/24 h, n = 29). Criteria for early removal were established and met before chest tube removal. The volume and character of drainage, time of extracting drainage tube and postoperative hospital stay were measured. All patients received standard care during hospital admission and a follow-up visit was performed after 7 days of discharge from hospital.</p><p><b>RESULTS</b>There were no differences between two groups with respect to age, sex, comorbidities, or pathologic evaluation of resection specimens. The median volume of drainage within 24 h after surgery was 300 ml and within 48 h was 250 ml, there was significantly different between two groups (Z = -2.059, P = 0.039). Patients undergoing early removal management had a shorter Chest tube duration (44 hours vs. 67 hours, Z = -2.914, P = 0.004) and a shorter postoperative hospital stay (5.0 days vs. 6.0 days, Z = -3.882, P = 0.000). Analysis of data showed no statistically significant differences between the rate of pleural effusions developed, thoracentesis and complications, one week after discharge from hospital.</p><p><b>CONCLUSIONS</b>Compared to the traditional management group (drainage ≤ 100 ml/24 h), early removal of chest tube after lobectomy (drainage ≤ 300 ml/24 h) is feasible and safe. It could result in a shorter hospital stay, and most importantly, reduces morbidity without the added risk of complications.</p>