Primary spontaneous pneumothorax (PSP) is a common manifestation of Birt-Hogg-Dubé syndrome caused by folliculin gene (FLCN) mutation, which is also found in isolated familial PSP cases. A complete genetic analysis of FLCN was performed in 102 unrelated Chinese patients with isolated PSP and 21 of their family members. Three novel mutations (c.924_926del, c.1611_1631del and c.1740C>T) and a previously reported mutation (c.1733insC) were identified in five familial and five sporadic PSP patients. Of the 21 family members of patients with PSP including 3 previous considered as sporadic, 4 (19%) had history of at least one episode of PSP and 9 (43%) were FLCN mutant carriers without PSP. Seven of the nine (78%) mutant carriers had pulmonary cysts detected by high-resolution computed tomography (HRCT). Although c.924_926del and c.1611_1631del were found in eight patients from the same geographic district, haplotype analysis demonstrated that they did not share the same affected haplotype, thus excluding common ancestry. This study first demonstrates that FLCN mutation contributes to not only familial but also 'apparently sporadic' patients with isolated PSP. It suggests that mutation analysis and HRCT scan may be recommended for first-degree family members of PSP patients with FLCN mutations, irrespective of their family history status of PSP.
The direct injection by thoracoscope of mesenchymal stem cells (MSCs) that had been genetically modified to express angiopoietin-1 was investigated in a porcine model to determine their effect on arteriogenesis and the effectiveness of this technique. Chronic myocardial ischaemia was established using a thoracoscope to insert an ameroid constrictor around the left circumflex coronary artery. Six weeks after establishing the ischaemia, 20 pigs were randomly divided into three groups to receive injections by thoracoscope of either genetically-modified MSCs, unmodified MSCs or phosphate-buffered saline into the ischaemic border area. The injections were repeated 1 month later. The genetically modified MSCs were found to restore blood flow significantly more than the other observed treatments and immunohistochemical evaluation of arteriogenesis supported this finding. In conclusion, the injection of MSCs that had been genetically modified to express angiopoietin-1 improved arteriogenesis and increased collateral blood flow in the myocardial ischaemic area. Thoracoscope delivery of the injection was safe and minimally invasive.
ABSTRACT. This study aimed to evaluate the influence of plasma exchange (PE) treatment of patients with liver failure on the patient's immune function, including peripheral blood T lymphocytes and cytokines. Patients accepting PE for liver failure from October 2011 to February 2012 were included prospectively in the research group. Peripheral blood samples were collected at set time points. The percentages of T lymphocyte subtypes were detected by flow cytometry using different fluorescence labels including CD3-FITC, CD4-PerCP, CD8-PE, CD25-FITC, and Foxp3-PE. Changes in serum IL-17 concentration were followed by ELISA. In all fifteen patients who accepted PE, the percentages of CD3 + and CD8 + T cells increased immediately after the procedure and then reduced gradually. These significant changes were confirmed by statistical analysis (P < 0.05). Foxp3+ T cells (Treg) increased after the treatment with statistical difference (P < 0.05). The concentration of IL-17 in patient serum increased significantly following PE treatment (P < 0.05). These results demonstrated that T lymphocyte subgroups of patients with liver failure could be influenced after PE treatment, and that cellular immunity could be recovered. PE treatment, therefore, can be viewed as providing reliable protection for the reconstruction of the patient immune system.
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