ABSTRACT
With the developing technique of the diagnosis and treatment of early gastric cancer, the quality of early gastric cancer diagnosis and treatment is coming into focus, and is crucial to improve the overall management of gastric cancer. It is necessary to establish a quality control system to ensure the quality of diagnosis and treatment for EGC. Based on the summary of the diagnosis and treatment status and technological progress of early gastric cancer, this paper proposes the quality control strategy, content and plan for the diagnosis and treatment process of EGC from the aspects of multidisciplinary diagnosis and treatment, clinical diagnosis technology, endoscopic and surgical treatment, pathological diagnosis and follow-up, with a view to expound the rationality, standardization and quality guarantee of the diagnosis and treatment process for early gastric cancer.
Subject(s)
Endoscopic Mucosal Resection , Stomach Neoplasms , Humans , Gastroscopy/methods , Stomach Neoplasms/diagnosis , Stomach Neoplasms/surgery , Stomach Neoplasms/pathology , Endoscopic Mucosal Resection/methods , Early Detection of Cancer , Quality ControlABSTRACT
Radical gastrectomy combined with perioperative comprehensive treatment is the main curable strategy for gastric cancer patients, and postoperative complications are the issue that gastric surgeons have to face. Complications not only affect the short-term postoperative recovery, but also facilitate tumor recurrence or metastasis, thus resulting in poor prognosis. Therefore, unifying the diagnostic criteria for postoperative complications, bringing the surgeons' attention to complications, and understanding the potential mechanism of complications undermining long-term survival, will be helpful to the future improvement of the clinical diagnosis and treatment as well as prognosis for gastric cancer patients in China. Meanwhile, surgeons should constantly hone their operative skills, improve their sense of responsibility and empathy, and administer individualized perioperative management based on patients' general conditions, so as to minimize the occurrence of postoperative complications and their influence on prognosis.
Subject(s)
Stomach Neoplasms , Surgeons , Humans , Stomach Neoplasms/pathology , Empathy , Neoplasm Recurrence, Local/surgery , Prognosis , Gastrectomy/methods , Postoperative Complications/etiology , Retrospective StudiesABSTRACT
The surgical treatment of early gastric cancer (EGC) is undergoing the development of minimally invasive, precise and individualized treatment. The concept is changing from simple emphasis on radical treatment to giving consideration to both radical treatment and functional preservation. Combined laparoscopy-endoscopy local resection can achieve accurate resection of the lesions of EGC and solve the problem of lymph node dissection which cannot be performed in endoscopic mucosal dissection (ESD). At present, there are several methods of combined laparoscopy-endoscopy local resection for EGC, such as laparoscopy-assisted endoscopic full-thickness resection (EFTR), endoscopy-assisted wedge resection (EAWR), combined laparoscopic and endoscopic approach for neoplasia with a non-exposure technique (CLEAN-NET), and non-exposed endoscopic wall-inversion surgery (NEWS). These methods of local resection have the advantages of minimal invasion, shorter operation time, and less blood loss compared to conventional gastrectomy. Concerning the issue of lymph node dissection in combined laparoscopy-endoscopy surgery, sentinel node navigation can be the solution, although cumbersome intraoperative lymph node tracing, operative failure and false negative still exist. As a developing treatment for EGC, combined laparoscopy-endoscopy local resection will have a good application prospect in the future.
Subject(s)
Gastrectomy/methods , Laparoscopy , Stomach Neoplasms , Early Detection of Cancer , Endoscopy , Humans , Lymph Node Excision , Stomach Neoplasms/diagnosis , Stomach Neoplasms/surgeryABSTRACT
Objective: To investigate the health of gypsum miners in Hubei province and analyze the health effects of occupational disease hazards exposure on gypsum miners. Methods: In April 2017, occupational disease hazard factors were tested on the site of a gypsum mine, and 500 workers were selected by random sampling to conduct questionnaires, relevant data such as occupational health examination was collected, and descriptive statistical analysis was performed. Results: The main occupational hazards of gypsum miners were gypsum dust and noise. The time-weighted average concentration of 8 h in the workplace was 4.32 to 9.34 mg/m(3), and the post pass rate was 69.2% (9/13) ; Respiratory dust 0.13-5.15 mg/m(3), post pass rate 75.0% (3/4). Gypsum miners had finger dysfunction and muscle numbness, joint pain (29.2%, 88/301) and chest pain and breathing difficulties (17.6%, 53/301). Followed by tinnitus, auricle pus, running water (4.7%, 14/301), abnormal muscle tension (2.7%, 8/301). The exposure of occupational disease hazards was associated with respiratory, auditory and neurological symptoms of gypsum miners. Conclusion: The long-term exposure of gypsum workers to gypsum dust, noise and other harmful factors may result in obvious symptoms of respiratory system and other health damage.
Subject(s)
Calcium Sulfate/adverse effects , Mining , Occupational Diseases/epidemiology , Occupational Exposure/adverse effects , Dust , HumansABSTRACT
Objective: To investigate the risk factors of postoperative hyperactive-type delirium(PHTD) in geriatric orthopedic patients using nested case-control study. Methods: Seventy-four patients who underwent orthopedic surgeries in the Second Affiliated Hospital of Wenzhou Medical University from January 2008 to December 2013, aged 65 or above, American Society of Anesthesiologists (ASA) physical status â -â £, with complete medical records and confirmed diagnosis of PHTD were selected as case group. A control group of 444 patients, on the basis of 1â¶6 versus nested case group, from the same cohort but without PHTD was established. Data patterns such as patient age, gender, ASA classification, status of preoperative/postoperative electrolytes, preoperative blood glucose, preoperative/postoperative plasma albumin and preoperative/postoperative hematocrit(Hct), uses of non-steroidal analgesics, anticholinergic drugs and benzodiazepines drugs, type of anesthesia, anesthesia duration, difference in postoperative analgesia were collected and analyzed. Results: Univariate Logistic regression analysis showed that gender, age, ASA grade, preoperative electrolytes, anesthesia duration, operative duration, intraoperative hypotension and the difference of postoperative analgesia were risk factors for PHTD. Multiple Logistic regression analysis showed that gender (OR=2.562, 95%CI: 1.438-4.564, P=0.001), age (OR=3.929, 95%CI: 1.788-8.633, P=0.001), preoperative electrolytes(OR=3.714, 95%CI: 2.068-6.670, P<0.001)were the independent risk factors for PHTD. Conclusion: Male, elderly patients and abnormalities of preoperative electrolyte are the independent risk factors for PHTD in geriatric orthopedic patients.
Subject(s)
Delirium , Orthopedics , Aged , Case-Control Studies , Humans , Male , Postoperative Complications , Postoperative Period , Risk FactorsABSTRACT
Lithium-sulfur batteries suffer from poor cycling stability and inferior rate capability, mainly caused by low conductivity and lithium polysulfide dissolution. To tackle these problems, this work demonstrates that Ti3C2Tx "clay", synthesized by selectively extracting the Al layers from the Ti3AlC2 phases with a mixture of HCl and LiF, is an effective host material for sulfur cathodes. To further enhance the rate performance and cycling stability of S/Ti3C2Tx composites, a single-walled carbon nanotube thin film was prepared by a simple vacuum filtration method and inserted between the cathode and the separator as an interlayer for Li-S batteries. The S/Ti3C2Tx composite with an interlayer could deliver a high initial discharge capacity of 1458 mA h g-1 at a current density of 0.1 A g-1 and an ultralow capacity decay of 0.04% per cycle at 0.8 A g-1 for over 1500 cycles was achieved. More importantly, a reversible capacity of 608 mA h g-1 was obtained at a high current density of 8.2 A g-1 (≈5C), demonstrating superior rate capability. These results suggest that the S/Ti3C2Tx composite is a promising sulfur cathode material and the introduction of the interlayer will pave the way for the future development and design of high-rate with long-cycle Li-S batteries.
ABSTRACT
The resistance of Castanea mollissima Shuhe-WYL strain to Dryocosmus kuriphilus and its molecular mechanism were examined. The larvae of D. kuriphilus were inoculated on the Shuhe-WYL and Qingzha strains, and mortality was observed and compared; the relative mRNA content of the OsCDPK2, receptor-like protein, OsNAC6 protein, KH domain protein, RNA-binding protein, and the bHLH genes was detected using real-time polymerase chain reaction, and then compared between the Shuhe-WYL and Qingzha strains. Phenylalanine ammonia-lyase content was detected by western blotting and compared between the inoculated Shuhe-WYL, non-inoculated Shuhe-WYL, and inoculated Qingzha strains. The mortalities of larvae inoculated on the bud, bracteal leaf, and cardiac lobe were lower in Shuhe-WYL than Qingzha at 48 and 96 h after inoculation; the contents of OsCDPK2, receptor-like protein, OsNAC6 protein, and bHLH in the cardiac lobe were higher in Shuhe-WYL than in Qingzha at 96 h after inoculation, but KH domain protein and RNA-binding protein were not significantly different. The content of phenylalanine ammonia-lyase in the cardiac lobe was higher in inoculated and non-inoculated Shuhe-WYL compared to inoculated Qingzha at 15, 30, 45, and 60 days, and higher in inoculated Shuhe-WYL than in non-inoculated Shuhe-WYL at 15, 30, 45, and 60 days. The content of phenylalanine ammonia-lyase in the cardiac lobe of inoculated Shuhe-WYL had no significant difference between at 60 and at 45 days; and was higher at 60 and 45 days than at 30 and 15 days; and was higher at 30 days than at 15 days (60≈45Ë30Ë15 days). The C. mollissima Shuhe-WYL strain was resistant to D. kuriphilus; high expression of OsCDPK2, receptor-like protein, OsNAC6 protein, and bHLH and phenylalanine ammonia-lyase may explain the mechanism.
Subject(s)
Disease Resistance/genetics , Fagaceae/genetics , Fagaceae/immunology , Plant Diseases/immunology , Plant Diseases/parasitology , Wasps/physiology , Animals , Fagaceae/parasitology , Gene Expression Regulation, Plant , Larva , Phenylalanine Ammonia-Lyase/metabolism , Plant Diseases/genetics , Plant Proteins/genetics , Plant Proteins/metabolism , RNA, Messenger/genetics , RNA, Messenger/metabolism , Survival AnalysisABSTRACT
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). The percentage of CD4(+) T cells also increased after PE to a certain extent, but failed to show statistical significance. The positive ratio of CD4(+)CD25(+)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.
Subject(s)
Liver Failure/immunology , Liver Failure/therapy , Liver Transplantation , Plasma Exchange , Adult , Antigens, CD/metabolism , Female , Flow Cytometry , Forkhead Transcription Factors/metabolism , Humans , Interleukin-17/blood , Liver Failure/blood , Lymphocyte Subsets/immunology , Male , T-Lymphocytes/immunologyABSTRACT
In order to improve the homogeneity and dispersity of the sericite in methylphenyl-silicone resin, the agglomerate state of the sericites was controlled effectively. The dispersive model of the sericite in methylphenyl-silicone resin was designed also. First, the modified sericite was prepared using hexadecyl trimethyl ammonium bromide as the intercalating agent. Then, functional sericite was incorporated into methylphenyl-silicone by terminal hydroxyl. The structure and dispersive performance of the hybrid polymers was charactered by analytical instruments. Scanning electron microscopy and Transmission electron microscope, Laser scanning confocal microscope and X-ray diffraction analysis showed that functional sericite was dispersed homogeneously in methylphenyl-silicone resin matrix. X-ray photoelectron spectroscopy analysis showed that the absorption peaks of the Si-OH band of methylphenyl-silicone resin were decreased and the Si-O-Si band was increased. This change evidently showed a significant role to enhance the reaction degree of the functional sericite in methylphenyl-silicone resin.
Subject(s)
Materials Testing , Silicates/chemistry , Silicones/chemistry , Cetrimonium , Cetrimonium Compounds/chemistry , Chemical Phenomena , Microscopy, Electron , Photoelectron Spectroscopy , X-Ray DiffractionABSTRACT
Oxidative stress, which poses a threat to reproductive health, causes many serious female reproductive diseases. In this study, we investigated whether proanthocyanidins (PC) have a protective effect against oxidative stress-induced ovarian damage. Forty female ICR mice were randomized into 4 groups: a control group, a control plus PC group, a 3-nitropropionic acid (3-NPA) group, and a 3-NPA plus PC group. An ovarian oxidative stress model induced by 3-NPA was constructed using female ICR mice. After the animals were sacrificed, their ovaries were collected to measure reactive oxygen species (ROS) levels, the activities of superoxide dismutase (SOD) and catalase (CAT), and the mRNA expression levels of relevant granulosa cell apoptosis genes (Bcl-2, Bax, Bim, FasL, and caspase-3). We also conducted a histological evaluation of granulosa cell apoptosis and follicular atresia. The results showed that compared to the 3-NPA group, ROS levels and activities of T-SOD and CAT in the 3-NPA plus PC group were significantly decreased (P < 0.05), while the ratio of Bcl-2 to Bax in the 3-NPA plus PC group were significantly increased (P < 0.05). mRNA expression levels of Bim, FasL, and caspase-3 in the 3-NPA plus PC group were significantly decreased (P < 0.05), and the percentage of atretic follicles and granulosa cell apoptosis in the 3-NPA plus PC group was significantly decreased (P < 0.05). Collectively, these data indicate that PC has significant protective effects against damage induced by oxidative stress in mouse ovaries. The mechanisms of protection may be related to antioxidation and apoptosis reduction.
Subject(s)
Antioxidants/pharmacology , Granulosa Cells/drug effects , Nitro Compounds/toxicity , Ovary/drug effects , Oxidative Stress/drug effects , Proanthocyanidins/pharmacology , Propionates/toxicity , Animals , Apoptosis/drug effects , Catalase/drug effects , Female , Mice , Mice, Inbred ICR , Superoxide Dismutase/drug effectsABSTRACT
The developmental dynamics of DNA methylation events have been well studied. Active demethylation of the paternal genome occurs in the zygote, passive demethylation occurs during cleavage stages, and de novo methylation occurs by the blastocyst stage. It is believed that the paternal genome has lower levels of methylation during early development than the maternal genome. However, in this study, we provide direct and indirect evidence of genome-wide de novo DNA methylation of the paternal genome after the first cell cycle in mouse embryos. Although very little methylation was detected within the male pronucleus in zygotes, an intense methylation signal was clearly visible within the androgenetic 2-cell embryos. Moreover, the DNA methylation level of the paternal genome in the post-zygotic metaphase embryos was similar to that of the maternal genome. Using indirect immunofluorescence with an antibody to methylated lysine 9 in histone H3, we provided new evidence to support the concept of spatial compartmentalization of parental genomes in 2-cell mouse embryos. Nevertheless, the transient segregation of parental genomes was not observed by determining the DNA methylation distribution in the 2-cell embryos even though DNA methylation asymmetry between the maternal and paternal pronucleus existed in the 1-cell stage. The disappearance of separate immunofluorescence signals of 5-methyl cytosine in the 2-cell embryos might be attributed to the de novo methylation of the paternal genome during the first mitotic cycle.
Subject(s)
Blastocyst/metabolism , DNA Methylation , Genome , Genomic Imprinting , Animals , Female , Male , MiceABSTRACT
We investigated the effects of follicle-stimulating hormone (FSH) on atresia of the dominant follicle and changes in relevant apoptosis genes in granulosa cells of dominant follicles regulated by FSH in vivo. Four-week-old mice were administered FSH by intraperitoneal injection to induce follicular maturation. Granulosa cells of dominant follicles were collected at 48, 72, and 96 h after the first FSH injection. Phosphate-buffered saline was injected as a control. The mRNA levels of relevant granulosa cell apoptosis genes were examined by real-time quantitative polymerase chain reaction, and apoptosis of granulosa cells in dominant ovarian follicles was determined by the terminal deoxynucleotidyl transferase dUTP nick-end labeling (TUNEL) assay. Apoptosis in granulosa cells of dominant follicles was almost TUNEL-negative at 48, 72-66, 72, and 96-90 h after the first FSH injection, but granulosa cell apoptosis in dominant follicles was clearly detected at 96, 102, and 102-96 h by TUNEL. The BIM, caspase-3, and caspase-9 mRNA expression levels were significantly lower after FSH treatment at 72-66 and 96-90 h, compared with that at 72 and 96 h (P < 0.05). Caspase-8 and FasL mRNA expressions did not respond to FSH. FSH rescued granulosa cells from apoptosis when the relevant apoptosis genes were upregulated in early atretic follicles. FSH did not rescue granulosa cells from apoptosis if the DNA was cut into fragments by endonucleases. Thus, the rescue by FSH of granulosa cells from apoptosis and dominant follicle atresia may be accomplished by inhibition of apoptosis in mitochondria.
Subject(s)
Apoptosis/drug effects , Follicle Stimulating Hormone/administration & dosage , Follicular Atresia/drug effects , Animals , Caspase 3/metabolism , Caspase 9/metabolism , Female , Follicle Stimulating Hormone/metabolism , Follicular Atresia/genetics , Gene Expression Regulation/drug effects , Granulosa Cells/drug effects , Granulosa Cells/metabolism , Humans , Mice , Mitochondria/drug effects , Ovarian Follicle/drug effects , Ovarian Follicle/metabolismSubject(s)
Ascites/parasitology , Eosinophilia/parasitology , Strongyloidiasis/complications , Adult , Antinematodal Agents/therapeutic use , Deglutition Disorders/parasitology , Diarrhea/parasitology , Female , Humans , Intestinal Diseases, Parasitic/diagnosis , Intestinal Diseases, Parasitic/drug therapy , Ivermectin/therapeutic use , Strongyloidiasis/diagnosis , Strongyloidiasis/drug therapy , TravelABSTRACT
HLA-G has been documented both in establishment of anti-tumour immune responses and in tumour evasion. To investigate the clinical relevance of HLA-G in non-small-cell lung cancer (NSCLC), expression status and potential significance of HLA-G in NSCLC were analysed. In this study, HLA-G expression in 101 NSCLC primary lesions and plasma soluble HLA-G (sHLA-G) from 91 patients were analysed with immunohistochemistry and ELISA, respectively. Correlations between HLA-G status and various clinical parameters including survival time were evaluated. Meanwhile, functional analysis of transfected cell surface HLA-G expression and plasma sHLA-G form NSCLC patients on natural killer (NK) cell cytolysis were performed. Data revealed that HLA-G was expressed in 41.6% (42/101) NSCLC primary lesions, while undetectable in adjacent normal lung tissues. HLA-G expression in NSCLC lesions was strongly correlated to disease stages (P= 0.002). Plasma sHLA-G from NSCLC patients was markedly higher than that in normal controls (P= 0.004), which was significantly associated with the disease stages (I versus IV, P= 0.025; II versus IV, P= 0.029). Patient plasma sHLA-G level (≥median, 32.0 U/ml) had a significantly shorter survival time (P= 0.044); however, no similar significance was observed for the lesion HLA-G expression. In vitro data showed that both cell surface HLA-G and patient plasma sHLA-G could dramatically decrease the NK cell cytolysis. Our findings indicated that both lesion HLA-G expression and plasma sHLA-G in NSCLC is related to the disease stage and can exert immunosuppression to the NK cell cytolysis, indicating that HLA-G could be a potential therapeutic target. Moreover, plasma sHLA-G in NSCLC patients could be used as a prognosis factor for NSCLC.
Subject(s)
Carcinoma, Non-Small-Cell Lung/immunology , HLA Antigens/immunology , Histocompatibility Antigens Class I/immunology , Lung Neoplasms/immunology , Carcinoma, Non-Small-Cell Lung/blood , Carcinoma, Non-Small-Cell Lung/pathology , Cell Line, Tumor , Cell Membrane/metabolism , Cytotoxicity, Immunologic , Female , HLA Antigens/blood , HLA-G Antigens , Histocompatibility Antigens Class I/blood , Humans , Immunohistochemistry , Kaplan-Meier Estimate , Killer Cells, Natural/immunology , Lung Neoplasms/blood , Lung Neoplasms/pathology , Male , Middle Aged , Survival AnalysisABSTRACT
The clinical relevance of human leucocyte antigen-G (HLA-G) has been postulated in malignancies. Hepatocellular carcinoma (HCC) is a major contributor to cancer incidence and mortality worldwide; however, potential roles of HLA-G in HCC remain unknown. In the current study, HLA-G expression in 219 primary HCC lesions and their adjacent non-tumourous samples was analysed with immunohistochemistry. Correlations among HLA-G expression and various clinical parameters were evaluated. Meanwhile, functional analysis of transfected cell surface HLA-G expression on NK cell cytolysis was performed in vitro. HLA-G expression was observed in 50.2% (110/219) of primary HCC lesions, and undetectable in corresponding adjacent normal liver tissues. HLA-G expression was found in 37.8%, 41.9% and 71.4% of stage I, II and III HCC lesions, respectively. Data revealed that HLA-G expression in HCC was strongly correlated to advanced disease stage (I versus II, P= 0.882; I versus III, P= 0.020; II versus III, P= 0.037). HLA-G expression was also more frequently observed in elder patients (≥median 52 years, 57.5%versus 43.4%, P= 0.004). Meanwhile, plasma soluble HLA-G in HCC patients was significantly higher than that in normal controls (median, 92.49U/ml versus 9.29U/ml, P= 0.000). Functional assay showed that HLA-G expression in transfected cells could dramatically decrease the NK cell cytolysis (P= 0.036), which could be markedly restored by the blockade of HLA-G (P= 0.004) and its receptor ILT2 (P= 0.019). Our finding indicated that HLA-G expression was strongly correlated to advanced disease stage, and more frequently observed in elder patients. Its relevance to HCC progression might be result from the inhibition of NK cell cytolysis.
Subject(s)
Carcinoma, Hepatocellular/metabolism , HLA Antigens/biosynthesis , Histocompatibility Antigens Class I/biosynthesis , Liver Neoplasms/metabolism , Adult , Age Factors , Aged , Antibodies, Monoclonal/immunology , Antibodies, Monoclonal/pharmacology , Blotting, Western , Carcinoma, Hepatocellular/blood , Carcinoma, Hepatocellular/pathology , Cytotoxicity, Immunologic/drug effects , Enzyme-Linked Immunosorbent Assay , Female , HLA Antigens/genetics , HLA Antigens/immunology , HLA-G Antigens , Hep G2 Cells , Histocompatibility Antigens Class I/genetics , Histocompatibility Antigens Class I/immunology , Humans , Immunohistochemistry , K562 Cells , Killer Cells, Natural/cytology , Killer Cells, Natural/immunology , Liver Neoplasms/blood , Liver Neoplasms/pathology , Male , Middle Aged , Neoplasm Staging , Tissue Array Analysis , TransfectionABSTRACT
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.
Subject(s)
Angiopoietin-1/metabolism , Arteries/cytology , Cell Differentiation , Gene Expression , Mesenchymal Stem Cells/metabolism , Myocardial Ischemia/metabolism , Neovascularization, Physiologic/physiology , Angiopoietin-1/genetics , Animals , Chronic Disease , Disease Models, Animal , Echocardiography , Genes, Reporter/genetics , Immunohistochemistry , Myocardial Ischemia/diagnostic imaging , Myocardial Ischemia/genetics , Neovascularization, Physiologic/genetics , RNA, Messenger/genetics , SwineABSTRACT
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.
Subject(s)
Mutation , Pneumothorax/genetics , Proto-Oncogene Proteins/genetics , Tumor Suppressor Proteins/genetics , Adolescent , Adult , Aged , Case-Control Studies , China/epidemiology , Cysts , DNA Mutational Analysis , Family Health , Female , Genotype , Humans , Male , Middle Aged , SyndromeABSTRACT
A few years ago, three novel murine homeobox genes closely related to the Drosophila sine oculis (so) gene (Six1-3) were isolated and were all included in the Six/so gene family. Because of its early expression in the developing eye field, Six3 was initially thought to be the functional ortholog of the Drosophila so gene. This hypothesis was further supported by the demonstration that ectopic Six3 expression in medaka fish (Oryzias latipes) promotes the formation of ectopic lens and retina tissue. Here, we show that similar to Drosophila, where the eyeless/Pax6 gene regulates the eye-specific expression of so, Six3 expression in the murine lens placodal ectoderm is also controlled by Pax6. We also show that ectopic Six3 expression promotes the formation of ectopic optic vesicle-like structures in the hindbrain-midbrain region of developing mouse embryos.