Next Issue
Volume 2, September
Previous Issue
Volume 2, March
 
 

Med. Sci., Volume 2, Issue 2 (June 2014) – 3 articles , Pages 70-126

  • Issues are regarded as officially published after their release is announced to the table of contents alert mailing list.
  • You may sign up for e-mail alerts to receive table of contents of newly released issues.
  • PDF is the official format for papers published in both, html and pdf forms. To view the papers in pdf format, click on the "PDF Full-text" link, and use the free Adobe Reader to open them.
Order results
Result details
Section
Select all
Export citation of selected articles as:
820 KiB  
Review
Application of Massively Parallel Sequencing in the Clinical Diagnostic Testing of Inherited Cardiac Conditions
by Ivone U. S. Leong, Jonathan R. Skinner and Donald R. Love
Med. Sci. 2014, 2(2), 98-126; https://doi.org/10.3390/medsci2020098 - 13 Jun 2014
Cited by 1 | Viewed by 20123
Abstract
Sudden cardiac death in people between the ages of 1–40 years is a devastating event and is frequently caused by several heritable cardiac disorders. These disorders include cardiac ion channelopathies, such as long QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome and [...] Read more.
Sudden cardiac death in people between the ages of 1–40 years is a devastating event and is frequently caused by several heritable cardiac disorders. These disorders include cardiac ion channelopathies, such as long QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome and cardiomyopathies, such as hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Through careful molecular genetic evaluation of DNA from sudden death victims, the causative gene mutation can be uncovered, and the rest of the family can be screened and preventative measures implemented in at-risk individuals. The current screening approach in most diagnostic laboratories uses Sanger-based sequencing; however, this method is time consuming and labour intensive. The development of massively parallel sequencing has made it possible to produce millions of sequence reads simultaneously and is potentially an ideal approach to screen for mutations in genes that are associated with sudden cardiac death. This approach offers mutation screening at reduced cost and turnaround time. Here, we will review the current commercially available enrichment kits, massively parallel sequencing (MPS) platforms, downstream data analysis and its application to sudden cardiac death in a diagnostic environment. Full article
Show Figures

Figure 1

685 KiB  
Article
NKT Cell Responses to B Cell Lymphoma
by Junxin Li, Wenji Sun, Priyanka B. Subrahmanyam, Carly Page, Kenisha M. Younger, Irina V. Tiper, Matthew Frieman, Amy S. Kimball and Tonya J. Webb
Med. Sci. 2014, 2(2), 82-97; https://doi.org/10.3390/medsci2020082 - 14 Apr 2014
Cited by 14 | Viewed by 8518
Abstract
Natural killer T (NKT) cells are a unique subset of CD1d-restricted T lymphocytes that express characteristics of both T cells and natural killer cells. NKT cells mediate tumor immune-surveillance; however, NKT cells are numerically reduced and functionally impaired in lymphoma patients. Many hematologic [...] Read more.
Natural killer T (NKT) cells are a unique subset of CD1d-restricted T lymphocytes that express characteristics of both T cells and natural killer cells. NKT cells mediate tumor immune-surveillance; however, NKT cells are numerically reduced and functionally impaired in lymphoma patients. Many hematologic malignancies express CD1d molecules and co-stimulatory proteins needed to induce anti-tumor immunity by NKT cells, yet most tumors are poorly immunogenic. In this study, we sought to investigate NKT cell responses to B cell lymphoma. In the presence of exogenous antigen, both mouse and human NKT cell lines produce cytokines following stimulation by B cell lymphoma lines. NKT cell populations were examined ex vivo in mouse models of spontaneous B cell lymphoma, and it was found that during early stages, NKT cell responses were enhanced in lymphoma-bearing animals compared to disease-free animals. In contrast, in lymphoma-bearing animals with splenomegaly and lymphadenopathy, NKT cells were functionally impaired. In a mouse model of blastoid variant mantle cell lymphoma, treatment of tumor-bearing mice with a potent NKT cell agonist, α-galactosylceramide (α-GalCer), resulted in a significant decrease in disease pathology. Ex vivo studies demonstrated that NKT cells from α-GalCer treated mice produced IFN-γ following α-GalCer restimulation, unlike NKT cells from vehicle-control treated mice. These data demonstrate an important role for NKT cells in the immune response to an aggressive hematologic malignancy like mantle cell lymphoma. Full article
(This article belongs to the Special Issue Recent Advances in Cellular Immunotherapy)
Show Figures

Figure 1

498 KiB  
Article
In Vitro Efficient Expansion of Tumor Cells Deriving from Different Types of Human Tumor Samples
by Ilaria Turin, Roberta Schiavo, Marcello Maestri, Ombretta Luinetti, Barbara Dal Bello, Marco Paulli, Paolo Dionigi, Marianna Roccio, Arsenio Spinillo, Federica Ferulli, Matteo Tanzi, Rita Maccario, Daniela Montagna and Paolo Pedrazzoli
Med. Sci. 2014, 2(2), 70-81; https://doi.org/10.3390/medsci2020070 - 26 Mar 2014
Cited by 4 | Viewed by 8982
Abstract
Obtaining human tumor cell lines from fresh tumors is essential to advance our understanding of antitumor immune surveillance mechanisms and to develop new ex vivo strategies to generate an efficient anti-tumor response. The present study delineates a simple and rapid method for efficiently [...] Read more.
Obtaining human tumor cell lines from fresh tumors is essential to advance our understanding of antitumor immune surveillance mechanisms and to develop new ex vivo strategies to generate an efficient anti-tumor response. The present study delineates a simple and rapid method for efficiently establishing primary cultures starting from tumor samples of different types, while maintaining the immuno-histochemical characteristics of the original tumor. We compared two different strategies to disaggregate tumor specimens. After short or long term in vitro expansion, cells analyzed for the presence of malignant cells demonstrated their neoplastic origin. Considering that tumor cells may be isolated in a closed system with high efficiency, we propose this methodology for the ex vivo expansion of tumor cells to be used to evaluate suitable new drugs or to generate tumor-specific cytotoxic T lymphocytes or vaccines. Full article
(This article belongs to the Special Issue Recent Advances in Cellular Immunotherapy)
Show Figures

Figure 1

Previous Issue
Next Issue
Back to TopTop