RESUMO
Germline mutations in identified breast cancer susceptibility genes account for less than 20% of Chinese familial breast cancers. Dicer is an essential component of the microRNA-producing machinery; germline mutations of DICER1 have been confirmed in familial pleuropulmonary blastoma, ovarian sex cord-stromal tumors, and other cancers. Low expression of DICER1 is frequently detected in breast cancer. However, whether germline mutations of DICER1 occur in familial breast cancers remain unknown. Sixty-five breast cancer probands from BRCA1/BRCA2-negative Chinese breast cancer families were screened for germline mutations in DICER1. In addition, 100 unrelated healthy females were enrolled as controls. A polymerase chain reaction sequencing assay was used to screen for mutations in coding regions and at the exon-intron boundaries of DICER1. All variants in introns were evaluated using the NNSplice software to determine the potential splicing effect. A total of 12 germline variants were found, including 11 variants in introns and 1 variant in the 3'-non-coding region. Four variants (IVS8-205 C>T, IVS11+131 delGAAA, IVS16+42 delTA, and IVS19+160 T>C) were novel. Three variants (IVS11+105 C>T, IVS16+42 delTA, and 6095 T>A) may affect splice sites. None of the observed variants appeared to be disease-related, suggesting that germline mutations in DICER1 are rare or absent in familial breast cancer patients.
Assuntos
RNA Helicases DEAD-box/genética , Mutação em Linhagem Germinativa , Neoplasias Ovarianas/genética , Blastoma Pulmonar/genética , Ribonuclease III/genética , Tumores do Estroma Gonadal e dos Cordões Sexuais/genética , Adulto , Idoso , Proteína BRCA1/metabolismo , Proteína BRCA2/metabolismo , Neoplasias da Mama/genética , Neoplasias da Mama/metabolismo , China , Simulação por Computador , RNA Helicases DEAD-box/metabolismo , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/metabolismo , Isoformas de Proteínas/metabolismo , Blastoma Pulmonar/metabolismo , Ribonuclease III/metabolismo , Tumores do Estroma Gonadal e dos Cordões Sexuais/metabolismo , Adulto JovemRESUMO
The aim of this study was to analyze the association between pulse pressure and a novel type of phospholipid with solubility similar to that of lysophosphatidic acid (LPA), designated as AP, which was reported to be elevated during ischemia. In this cross-sectional study, 416 hypertensive patients and 252 controls aged between 35 and 70 years were enrolled consecutively. Fasting blood samples were extracted for assays of phospholipids and other biomarkers. Compared to controls, the hypertensive patients had higher levels of both LPA [odds ratio (OR) = 3.83] and AP (OR = 4.30). Changes in blood pressure did not affect the levels of LPA or AP. However AP, but not LPA, levels were significantly higher in patients with lower or higher pulse pressure (Pearson χ(2) = 11.239, P = 0.001). For patients whose pulse pressure was ≤60 mmHg, plasma levels of AP were significantly negatively correlated with pulse pressure. However, this was not observed for LPA and nine other biomarkers, including lipoproteins. Plasma levels of AP increased in hypertensive patients with higher or lower pulse pressure. Thus, attention should be paid to the possibility of cerebral ischemia in hypertensive patients when they have abnormal pulse pressure, especially for those with relatively low pulse pressure.
Assuntos
Pressão Sanguínea/genética , Isquemia Encefálica/sangue , Hipertensão/sangue , Fosfolipídeos/sangue , Adulto , Idoso , Isquemia Encefálica/genética , Feminino , Estudos de Associação Genética , Humanos , Hipertensão/genética , Hipertensão/patologia , Lipídeos/sangue , Lisofosfolipídeos , Masculino , Pessoa de Meia-IdadeRESUMO
An outbreak of sheep pox was investigated in the Ningxia Hui Autonomous Region in China. Through immunofluorescence testing, isolated viruses, polymerase chain reaction identification, and electron microscopic examination, the isolated strain was identified as a sheep pox virus. The virus was identified through sequence and phylogenetic analysis of the P32 gene, open reading frame (ORF) 095, and ORF 103 genes. This study is the first to use the ORF 095 and ORF 103 genes as candidate genes for the analysis of sheep pox. The results showed that the ORF 095 and ORF 103 genes could be used for the genotyping of the sheep pox virus.
Assuntos
Capripoxvirus/classificação , Capripoxvirus/isolamento & purificação , Filogenia , Animais , Sequência de Bases , Capripoxvirus/ultraestrutura , China , Masculino , Microscopia de Fluorescência , Infecções por Poxviridae/patologia , Infecções por Poxviridae/veterinária , Infecções por Poxviridae/virologia , Ovinos , Doenças dos Ovinos/virologia , Pele/patologia , Pele/virologia , Testículo/patologia , Testículo/virologia , Vírion/ultraestruturaRESUMO
BACKGROUND: Plant materials represent promising sources of anti-cancer agents. We developed and tested a novel extract from the ubiquitous plant Convolvulus arvensis. MATERIALS AND METHODS: Convolvulus arvensis components were extracted in boiling water, and small molecules were removed by high-pressure filtration. The extract's biological activity was assessed by measuring its effects on S-180 fibrosarcoma growth in Kun Ming mice and on heparin-induced angiogenesis in chick embryos. We also examined the extract's effects on lymphocytes ex vivo and tumor cell growth in vitro. RESULTS: The extract (primarily proteins and polysaccharides) inhibited tumor growth in a dose-dependent fashion when administered orally. At the highest dose tested, 200 mg/kg/day, tumor growth was inhibited by roughly seventy percent. Subcutaneous or intraperitoneal administration at 50 mg/kg/day also inhibited tumor growth by over seventy percent. The extract's acute LD50 in Kun Ming mice was 500 mg/kg/day when injected, indicating that tumor growth inhibition occurred at non-toxic doses. It inhibited angiogenesis in chick embryos, improved lymphocyte survival ex vivo, and enhanced yeast phagocytosis, but did not kill tumor cells in culture. CONCLUSION: High molecular mass extract deserves further study as an anti-cancer agent.