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Journal of Personalized Medicine | Page 2

Sri H Kanuri, Rolf P Kreutz
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-individual variability in plasma drug levels of DOACs. Pharmacogenomics of DOACs is a relatively new area of research. There is a need to understand the role of pharmacogenomics in the interpatient variability of the four most commonly prescribed DOACs, namely dabigatran, rivaroxaban, apixaban, and edoxaban...
January 17, 2019: Journal of Personalized Medicine
David J Hermel, Darren Sigal
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 has changed the trajectory of cancer care. However, clinical benefit in patients with colorectal cancer has been generally limited to tumors with loss of mismatch repair function and those with specific germline mutations in the DNA polymerase gene. Unfortunately, tumors with these specific mutator phenotypes are in the minority...
January 16, 2019: Journal of Personalized Medicine
Bridget Hiedemann, Erin Vernon, Bonnie H Bowie
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 contraceptives (COCs) on the grounds of high screening costs and low prevalence. From the perspective of patient-centered care, we examine cost, prevalence, and other published arguments for and against thrombophilia screening before initiating COCs. Our patient-centered review draws on relevant empirical evidence concerning the advantages and disadvantages of thrombophilia screening, while placing the discussion in the broader context of evolving attitudes toward genetic testing and a shifting policy landscape that provides many women direct access to COCs and/or thrombophilia screening...
January 15, 2019: Journal of Personalized Medicine
Jai N Patel, Mei Ka Fong, Megan Jagosky
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 immunotherapies have been approved primarily in the refractory setting, which appears to benefit a small proportion of patients. Until recently, rat sarcoma ( RAS ) mutations remained the only genomic biomarker to assist with therapy selection in metastatic colorectal cancer...
January 14, 2019: Journal of Personalized Medicine
Shafika Assaad, Christy Costanian, Lama Jaffal, Fida Tannous, Maria G Stathopoulou, Said El Shamieh
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 the risk of infection with Helicobacter pylori ( H. pylori ), we analyzed the relation between single nucleotide polymorphisms (SNPs) in TLRs ( TLR1 , TLR2 , TLR4 ) CD14 , RUNX3 and VitD levels with H. pylori infection. A case-control study on four hundred sixty Lebanese individuals was conducted...
January 11, 2019: Journal of Personalized Medicine
Yuko Shimizu-Motohashi, Hirofumi Komaki, Norio Motohashi, Shin'ichi Takeda, Toshifumi Yokota, 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 DMD are being investigated, which can be categorized into two groups: therapies that aim to restore dystrophin expression, and those that aim to compensate for the lack of dystrophin. Therapies that restore dystrophin expression include read-through therapy, exon skipping, vector-mediated gene therapy, and cell therapy...
January 7, 2019: Journal of Personalized Medicine
Arsalan Amirfallah, Gizem Calibasi Kocal, Olcun Umit Unal, Hulya Ellidokuz, Ilhan Oztop, Yasemin Basbinar
Fluoropyrimidine-based chemotherapy is extensively used for the treatment of solid cancers, including colorectal cancer. However, fluoropyrimidine-driven toxicities are a major problem in the management of the disease. The grade and type of the toxicities depend on demographic factors, but substantial inter-individual variation in fluoropyrimidine-related toxicity is partly explained by genetic factors. The aim of this study was to investigate the effect of dihydropyrimidine dehydrogenase (DPYD), thymidylate synthase (TYMS), and methylenetetrahydrofolate reductase (MTHFR) polymorphisms in colorectal cancer patients...
December 13, 2018: Journal of Personalized Medicine
Stephen Morgan, Stephanie Duguez, William Duddy
Multiple genes and mechanisms of pathophysiology have been implicated in amyotrophic lateral sclerosis (ALS), suggesting it is a complex systemic disease. With this in mind, applying personalized medicine (PM) approaches to tailor treatment pipelines for ALS patients may be necessary. The modelling and analysis of molecular interaction networks could represent valuable resources in defining ALS-associated pathways and discovering novel therapeutic targets. Here we review existing omics datasets and analytical approaches, in order to consider how molecular interaction networks could improve our understanding of the molecular pathophysiology of this fatal neuromuscular disorder...
December 13, 2018: Journal of Personalized Medicine
Sophie Visvikis-Siest, Vesna Gorenjak, Maria G Stathopoulou, Alexandros M Petrelis, Georges Weryha, Christine Masson, Brigitte Hiegel, Satish Kumar, Robert Barouki, Eric Boerwinkle, Georges Dagher, Panagiotis Deloukas, Federico Innocenti, John Lamont, Michael Marschler, Heiko Meyer, Urs A Meyer, Charity Nofziger, Markus Paulmichl, Cora Vacher, Lynn Webster
The 9th traditional biannual conference on Systems Medicine, Personalised Health & Therapy-"The Odyssey from Hope to Practice", inspired by the Greek mythology, was a call to search for practical solutions in cardio-metabolic diseases and cancer, to resolve and overcome the obstacles in modern medicine by creating more interactions among disciplines, as well as between academic and industrial research, directed towards an effective 'roadmap' for personalised health and therapy. The 9th Santorini Conference, under the Presidency of Sofia Siest, the director of the INSERM U1122; IGE-PCV (www...
December 12, 2018: Journal of Personalized Medicine
Kristin Bokelmann, Jürgen Brockmöller, Mladen V Tzvetkov
The organic cation transporter 1 (OCT1, SLC22A1) is strongly expressed in the human liver and facilitates the hepatic uptake of drugs such as morphine, metformin, tropisetron, sumatriptan and fenoterol and of endogenous substances such as thiamine. OCT1 expression is inter-individually highly variable. Here, we analyzed SNPs in the OCT1 promoter concerning their potential contribution to the variability in OCT1 expression. Using electrophoretic mobility shift and luciferase reporter gene assays in HepG2, Hep3B, and Huh7 cell lines, we identified the SNPs -1795G>A (rs6935207) and -201C>G (rs58812592) as having effects on transcription factor binding and/or promoter activity...
December 11, 2018: Journal of Personalized Medicine
Yusuke Echigoya, Kenji Rowel Q Lim, Akinori Nakamura, Toshifumi Yokota
Duchenne muscular dystrophy (DMD), a fatal X-linked recessive disorder, is caused mostly by frame-disrupting, out-of-frame deletions in the dystrophin ( DMD ) gene. Antisense oligonucleotide-mediated exon skipping is a promising therapy for DMD. Exon skipping aims to convert out-of-frame mRNA to in-frame mRNA and induce the production of internally-deleted dystrophin as seen in the less severe Becker muscular dystrophy. Currently, multiple exon skipping has gained special interest as a new therapeutic modality for this approach...
December 7, 2018: Journal of Personalized Medicine
Luis A López-Fernández
ATP-binding cassette (ABC) transporters are involved in a large number of processes and contribute to various human genetic diseases. Among other functions, ABC proteins are involved in the transport of multiple drugs through cells. Most of the genes coding for these transporters are highly polymorphic and DNA variants in these genes can affect the normal functioning of these proteins, affecting the way drugs are transported, increasing or decreasing drug levels. These changes in the intracellular and extracellular drug levels may be associated with altered drug effectiveness or severe drug-induced adverse events...
December 5, 2018: Journal of Personalized Medicine
Muhammad W Athar, Janet D Record, Carol Martire, David B Hellmann, Roy C Ziegelstein
: Personalized tools relevant to an individual patient's unique characteristics may be an important component of personalized health care. We randomized 97 patients hospitalized with acute decompensated heart failure to receive a printout of an ultrasound image of their inferior vena cava (IVC) with an explanation of how the image is related to their fluid status ( n = 50) or to receive no image and only generic heart failure information ( n = 47). Adherence to medications, low-sodium diet, and daily weight measurement at baseline and 30 days after discharge were assessed using the Medical Outcomes Study Specific Adherence Scale, modified to a three-item version for heart failure (HF), (MOSSAS-3HF, maximum score = 15, indicating adherence all of the time)...
November 27, 2018: Journal of Personalized Medicine
Kenji Rowel Q Lim, Chantal Yoon, Toshifumi Yokota
Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive neuromuscular disease prevalent in 1 in 3500 to 5000 males worldwide. As a result of mutations that interrupt the reading frame of the dystrophin gene ( DMD ), DMD is characterized by a loss of dystrophin protein that leads to decreased muscle membrane integrity, which increases susceptibility to degeneration. CRISPR/Cas9 technology has garnered interest as an avenue for DMD therapy due to its potential for permanent exon skipping, which can restore the disrupted DMD reading frame in DMD and lead to dystrophin restoration...
November 24, 2018: Journal of Personalized Medicine
Laith N Al-Eitan, Islam M Al-Dalalah, Afrah K Elshammari, Wael H Khreisat, Ayah Y Almasri
This study aims to investigate the effects of the three potassium channel genes KCNA1 , KCNA2 , and KCNV2 on increased susceptibility to epilepsy as well as on responsiveness to antiepileptic drugs (AEDs). The pharmacogenetic and case-control cohort ( n = 595) consisted of 296 epileptic patients and 299 healthy individuals. Epileptic patients were recruited from the Pediatric Neurology clinic at the Queen Rania Al Abdullah Hospital (QRAH) in Amman, Jordan. A custom platform array search for genetic association in Jordanian-Arab epileptic patients was undertaken...
November 14, 2018: Journal of Personalized Medicine
Venkataswarup Tiriveedhi
The pricing of targeted medicines continues to be a major area of contention in healthcare economics. This issue is further complicated by redefining the role of molecular testing in precision medicine. Currently, whilst pricing of clinical laboratory diagnostics is cost-based, drug pricing is value-based. The pricing for molecular testing is under pressure to change the traditional business model, for it has a critical subsidiary role in determining the final value of targeted medicines. The market size for drugs is reduced by molecular testing when patients with the same disease are stratified based on their genetics, it is critical to determine the value of this new enhanced drug specificity to realize its full pricing potential...
November 5, 2018: Journal of Personalized Medicine
Medhat Farwati, Ashok Kumbamu, David C Kochan, Iftikhar J Kullo
Familial Hypercholesterolemia (FH) is an inherited disorder associated with increased cardiovascular risk that requires patients to make multiple impactful decisions regarding the management of their condition. Patient decision aids (PDAs) can facilitate shared decision-making (SDM) and enable patients to make choices that are concordant with their goals and values. To inform the development of a PDA for patients with FH, we employed a qualitative inductive approach and focus group discussions with patients, physicians, and genetic counselors...
November 4, 2018: Journal of Personalized Medicine
Eftaxia-Konstantina Valanti, Katerina Dalakoura-Karagkouni, Despina Sanoudou
Atherosclerosis affects millions of people worldwide. However, the wide variety of limitations in the current therapeutic options leaves much to be desired in future lipid-lowering therapies. For example, although statins, which are the first-line treatment for coronary heart disease (CHD), reduce the risk of cardiovascular events in a large percentage of patients, they lead to optimal levels of low density lipoprotein-cholesterol (LDL-C) in only about one-third of patients. A new promising research direction against atherosclerosis aims to improve lipoprotein metabolism...
October 3, 2018: Journal of Personalized Medicine
John Canfield, Hana Totary-Jain
The field of interventional cardiology has evolved significantly since the first percutaneous transluminal coronary angioplasty was performed 40 years ago. This evolution began with a balloon catheter mounted on a fixed wire and has progressed into bare-metal stents (BMS), first-generation drug-eluting stents (DES), second- and third-generation biodegradable polymer-based DES, and culminates with the advent of bioabsorbable stents, which are currently under development. Each step in technological advancement has improved outcomes, while new persisting challenges arise, caused by the stent scaffolds, the polymers employed, and the non-selective cytostatic and cytotoxic drugs eluted from the stents...
October 1, 2018: Journal of Personalized Medicine
Ann Chen Wu, Kathleen M Mazor, Rachel Ceccarelli, Stephanie Loomer, Christine Y Lu
Recent advances in genomic medicine have led to the availability of genomic tests that have the potential to improve population health, yet the process for obtaining these tests and getting them reimbursed by insurers has not been described. The objective of this study was to describe the process of ordering pharmacogenomic tests by interviewing providers, patients, and laboratories about cancer-related pharmacogenomic tests. We interviewed patients who were prescribed, providers who prescribed medications that should be guided by pharmacogenomic testing, and individuals from diagnostic laboratories...
October 1, 2018: Journal of Personalized Medicine
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