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Journal of Personalized Medicine, Volume 9, Issue 1

2019 March - 17 articles

Cover Story: For patients with microsatellite instability-high or mismatch repair deficient metastatic colorectal cancer, immune checkpoint inhibitors have demonstrated impressive clinical efficacy. This hyper-mutated tumor subgroup is especially vulnerable to the effects of checkpoint blockade due to its high frequency of frameshift peptide neoantigens and characteristic immunogenic tumor microenvironment. This review explores current novel combination strategies that aim to incorporate these therapeutic antibodies into the treatment paradigm of patients with microsatellite stable colorectal cancer, with the goal of optimally sensitizing the relatively immuno-cold tumor microenvironment of these tumors to the immune-activating effects of checkpoint inhibition. View this paper.
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Articles (17)

  • Article
  • Open Access
51 Citations
10,338 Views
11 Pages

Metformin Pharmacogenetics: Effects of SLC22A1, SLC22A2, and SLC22A3 Polymorphisms on Glycemic Control and HbA1c Levels

  • Laith N. AL-Eitan,
  • Basima A. Almomani,
  • Ahmad M. Nassar,
  • Barakat Z. Elsaqa and
  • Nesreen A. Saadeh

Type 2 diabetes mellitus (T2DM) constitutes a major portion of Jordan’s disease burden, and incidence rates are rising at a rapid rate. Due to variability in the drug’s response between ethnic groups, it is imperative that the pharmacogen...

  • Review
  • Open Access
34 Citations
17,292 Views
21 Pages

Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscle disorders caused by mutations of the DMD gene, which encodes the subsarcolemmal protein dystrophin. In DMD, dystrophin is not expressed due to a disruption in the reading frame of t...

  • Review
  • Open Access
25 Citations
10,719 Views
22 Pages

Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer

  • Ava Willoughby,
  • Paul R. Andreassen and
  • Amanda Ewart Toland

Breast cancer screening modalities and guidelines continue to evolve and are increasingly based on risk factors, including genetic risk and a personal or family history of cancer. Here, we review genetic testing of high-penetrance hereditary breast a...

  • Review
  • Open Access
9 Citations
7,145 Views
9 Pages

18 February 2019

Information of an individual’s epigenome can be useful in cancer screening to enable personalised decision making on participation, treatment options and further screening strategies. However, adding this information might result in complex ris...

  • Article
  • Open Access
10 Citations
7,752 Views
13 Pages

The Association between Plasma Omega-6/Omega-3 Ratio and Anthropometric Traits Differs by Racial/Ethnic Groups and NFKB1 Genotypes in Healthy Young Adults

  • Jeremy Bauman-Fortin,
  • David W.L. Ma,
  • David M. Mutch,
  • Salma A. Abdelmagid,
  • Alaa Badawi,
  • Ahmed El-Sohemy and
  • Bénédicte Fontaine-Bisson

16 February 2019

Evidence for a relationship between omega-6/omega-3 (n-6/n-3) polyunsaturated fatty acid (PUFA) ratio and obesity in humans is inconsistent, perhaps due to differences in dietary intake or metabolism of PUFAs between different subsets of the populati...

  • Review
  • Open Access
154 Citations
15,431 Views
23 Pages

The Developing Story of Predictive Biomarkers in Colorectal Cancer

  • Stergios Boussios,
  • Mehmet Akif Ozturk,
  • Michele Moschetta,
  • Afroditi Karathanasi,
  • Nikolaos Zakynthinakis-Kyriakou,
  • Konstantinos H. Katsanos,
  • Dimitrios K. Christodoulou and
  • Nicholas Pavlidis

7 February 2019

Colorectal cancer (CRC) is the third most common malignancy worldwide. Surgery remains the most important treatment for non-metastatic CRC, and the administration of adjuvant chemotherapy depends mainly on the disease stage, which is still the strong...

  • Article
  • Open Access
13 Citations
9,405 Views
16 Pages

5 February 2019

In contrast to the large number of genetic studies on obesity, there has been significantly less nutrigenetics investigation of the interaction between diet and single nucleotide polymorphisms (SNPs) in obesity, especially within Eastern Mediterranea...

  • Article
  • Open Access
2 Citations
8,271 Views
12 Pages

VARIFI—Web-Based Automatic Variant Identification, Filtering and Annotation of Amplicon Sequencing Data

  • Milica Krunic,
  • Peter Venhuizen,
  • Leonhard Müllauer,
  • Bettina Kaserer and
  • Arndt von Haeseler

1 February 2019

Fast and affordable benchtop sequencers are becoming more important in improving personalized medical treatment. Still, distinguishing genetic variants between healthy and diseased individuals from sequencing errors remains a challenge. Here we prese...

  • Commentary
  • Open Access
17 Citations
8,414 Views
7 Pages

1 February 2019

Cardiovascular disease (CVD) is the leading cause of death in the United States (US), with familial hypercholesterolemia (FH) being a major inherited and genetic risk factor for premature CVD and atherosclerosis. Genetic testing has helped patients a...

  • Review
  • Open Access
16 Citations
12,678 Views
14 Pages

Personalized Assessment of the Coronary Atherosclerotic Arteries by Intravascular Ultrasound Imaging: Hunting the Vulnerable Plaque

  • Theodore G. Papaioannou,
  • Charalampos Kalantzis,
  • Efstratios Katsianos,
  • Despina Sanoudou,
  • Manolis Vavuranakis and
  • Dimitrios Tousoulis

24 January 2019

The term “vulnerable plaque” is commonly used to refer to an atherosclerotic plaque that is prone to rupture and the formation of thrombosis, which can lead to several cardiovascular and cerebrovascular events. Coronary artery atheroscler...

  • Review
  • Open Access
115 Citations
14,889 Views
18 Pages

17 January 2019

Direct oral anticoagulants (DOAC) have shown an upward prescribing trend in recent years due to favorable pharmacokinetics and pharmacodynamics without requirement for routine coagulation monitoring. However, recent studies have documented inter-indi...

  • Review
  • Open Access
28 Citations
8,978 Views
13 Pages

16 January 2019

Checkpoint inhibitor therapy has introduced a revolution in contemporary anticancer therapy. It has led to dramatic improvements in patient outcomes and has spawned tremendous research into novel immunomodulatory agents and combination therapy that h...

  • Review
  • Open Access
10 Citations
9,134 Views
14 Pages

15 January 2019

The World Health Organization classifies combined hormonal contraception as an unacceptable health risk in the presence of a known thrombogenic mutation but advises against routine thrombophilia screening before initiating combined oral contraceptive...

  • Review
  • Open Access
34 Citations
10,934 Views
20 Pages

Colorectal Cancer Biomarkers in the Era of Personalized Medicine

  • Jai N. Patel,
  • Mei Ka Fong and
  • Megan Jagosky

14 January 2019

The 5-year survival probability for patients with metastatic colorectal cancer has not drastically changed over the last several years, nor has the backbone chemotherapy in first-line disease. Nevertheless, newer targeted therapies and immunotherapie...

  • Article
  • Open Access
22 Citations
7,154 Views
9 Pages

Association of TLR4 Polymorphisms, Expression, and Vitamin D with Helicobacter pylori Infection

  • Shafika Assaad,
  • Christy Costanian,
  • Lama Jaffal,
  • Fida Tannous,
  • Maria G. Stathopoulou and
  • Said El Shamieh

11 January 2019

Helicobacter pylori (H. pylori) infection is the strongest recognized risk factor for gastric adenocarcinoma. Since previous observations have shown that polymorphisms in innate immune system genes, as well as vitamin D (VitD) levels, could modify th...

  • Review
  • Open Access
72 Citations
17,759 Views
14 Pages

Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches

  • Yuko Shimizu-Motohashi,
  • Hirofumi Komaki,
  • Norio Motohashi,
  • Shin’ichi Takeda,
  • Toshifumi Yokota and
  • Yoshitsugu Aoki

Duchenne muscular dystrophy (DMD), a rare genetic disorder characterized by progressive muscle weakness, is caused by the absence or a decreased amount of the muscle cytoskeletal protein dystrophin. Currently, several therapeutic approaches to cure D...

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J. Pers. Med. - ISSN 2075-4426