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BACKGROUND: With the rapid development of nano-technology, the research and application of nanomaterials in biomedicine are increasing due to various advantages. It becomes a promising research direction in new anti-tumor methods. OBJECTIVE: To summarize the application of nanomaterials in imaging diagnosis and treatment of tumors. METHODS: The authors retrieved articles about the application of nanomaterials in tumor imaging diagnosis and treatment in WanFang, VIP, Elsevier and PubMed databases. The keywords were "nanophase materials, imaging diagnosis of tumor, nanocarriers, treatment of tumors, biological toxicity" in Chinese and English, respectively. RESULTS AND CONCLUSION: Due to its unique physical and chemical properties and plasticity, nanomaterials can become targeted medical materials that can carry anti-tumor drugs or active factors through specific modifications. Moreover, nanomaterials can adapt to different demands through various modifications and structural changes. Therefore, they have an unlimited prospect in the medical field. Currently, nanomaterials are not independent in the aspects of tumor diagnosis and treatment, but show an integration trend; that is, they are first targeted to tumor tissues, release active drugs during imaging diagnosis, or kill tumors through photothermal transformation.
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<p><b>OBJECTIVE</b>To explore genetic mutations and clinical features of osteogenesis imperfecta type V.</p><p><b>METHODS</b>Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as well as healthy controls were collected. Mutation of IFITM5 gene was identified by PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>A heterozygous mutation (c.-14C>T) in the 5-UTR of the IFITM5 gene was identified in all of the patients and one mother. The clinical findings included frequent fractures and spine and/or extremities deformities, absence of dentinogenesis imperfecta, absence of hearing impairment, and blue sclera in 1 case. Radiographic findings revealed calcification of the interosseous membrane between the radius-ulna in all cases. Hyperplastic callus formation was found in 3 cases. Four had radial-head dislocation.</p><p><b>CONCLUSION</b>A single heterozygous mutation c.-14C>T was found in the 5-UTR of the IFITM5 gene in 5 patients with osteogensis imperfecta type V. The patients showed specific radiological features including calcification of interosseous membrane, hyperplastic callus formation, and radial-head dislocation.</p>
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Young Adult , Mutation , Osteogenesis Imperfecta , Diagnostic Imaging , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations of COL1A1 and COL1A2 genes with polymerase chain reaction-high-resolution melting analysis(PCR-HRMA) in a proband diagnosed with osteogenesis imperfecta (OI).</p><p><b>METHODS</b>Peripheral blood samples were collected from the proband and members of his family as well as healthy controls. The mutations were detected by PCR-HRMA and confirmed by direct sequencing. Potential effects of the mutations were predicted using softwares including PolyPhen, SIFT and Align GVGD.</p><p><b>RESULTS</b>The PCR-HRMA has indicated mutations in exon 45 of the COL1A1 gene in the proband as well as his parents, which were presented as the difference in the melting curves between the patients and the control samples. Sequencing analysis confirmed that the proband has carried two heterozygous mutations (c.3235G>A, p.Gly1079Ser and c.3247G>A, p.Ala1083Thr) in exon 45 of the COL1A1 gene. Among them, c.3235G>A was predicted to have impeded alpha helix structure domain, which was inherited from the father who also had OI. c.3247G>A was inherited from mother who had a normal phenotype. All three softwares predicted that the c.3235G>A mutation can interfere with the function of the protein, while the c.3247G>A may have a benign effect by PolyPhen analysis.</p><p><b>CONCLUSION</b>The study identified two mutations (c.3235G>A and c.3247G>A) occurred simultaneously in COL1A1 gene in a case. The case is the first reported in human collagen mutation database. As identified,mutation of c.3235G>A may be the major cause of the disease in the proband.</p>