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Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Daci, A, Bozalija, A, Jashari, F, Krasniqi, S
International journal of molecular sciences. 2018;(1)
Abstract
Monogenic and polygenic mutations are important contributors in patients suffering from epilepsy, including metabolic epilepsies which are inborn errors of metabolism with a good respond to specific dietetic treatments. Heterozygous variation in solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) and mutations of the GLUT1/SLC2A2 gene results in the failure of glucose transport, which is related with a glucose type-1 transporter (GLUT1) deficiency syndrome (GLUT1DS). GLUT1 deficiency syndrome is a treatable disorder of glucose transport into the brain caused by a variety of mutations in the SLC2A1 gene which are the cause of different neurological disorders also with different types of epilepsy and related clinical phenotypes. Since patients continue to experience seizures due to a pharmacoresistance, an early clinical diagnosis associated with specific genetic testing in SLC2A1 pathogenic variants in clinical phenotypes could predict pure drug response and might improve safety and efficacy of treatment with the initiation of an alternative energy source including ketogenic or analog diets in such patients providing individualized strategy approaches.
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Precision immunotherapy, mutational landscape, and emerging tools to optimize clinical outcomes in patients with classical myeloproliferative neoplasms.
Mughal, TI, Lion, T, Abdel-Wahab, O, Mesa, R, Scherber, RM, Perrotti, D, Mauro, M, Verstovsek, S, Saglio, G, Van Etten, RA, et al
Hematological oncology. 2018;(5):740-748
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Abstract
Following the 47th American Society of Hematology Meeting in 2005, the late John Goldman and Tariq Mughal commenced a conference, the 1st Post-ASH Workshop, which brought together clinicians and scientists, to accelerate the adoption of new therapies for patients with myeloproliferative neoplasms (MPNs). The concept began with recognition of the CML success story following imatinib therapy, the discovery of JAK2V617F , and the demonstration that BCR-ABL1-negative MPNs are driven by abnormal JAK2 activation. This review is based on the presentations and deliberations at the XIIth Post-ASH Workshop on BCR-ABL1 positive and negative MPNs that took place on December 12 to 13, 2017, in Atlanta, Georgia, immediately following the 59th American Society of Hematology Meeting. We have selected some of the translational research and clinical topics, rather than an account of the proceedings. We discuss the role of immunotherapy in MPNs and the impact of the mutational landscape on TKI treatment in CML. We also consider how we might reduce TKI cardiovascular side effects, the potential role of nutrition as adjunctive nonpharmacologic intervention to reduce chronic inflammation in MPNs, and novel investigational therapies for MPNs.
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Applying Precision Medicine to Healthy Living for the Prevention and Treatment of Cardiovascular Disease.
Arena, R, Ozemek, C, Laddu, D, Campbell, T, Rouleau, CR, Standley, R, Bond, S, Abril, EP, Hills, AP, Lavie, CJ
Current problems in cardiology. 2018;(12):448-483
Abstract
Healthy living medicine (HLM) is an emerging concept that recognizes the importance of: (1) Moving more and sitting less; (2) Consuming a healthy diet at the appropriate caloric load; (3) Maintaining a healthy body weight; and (4) Not smoking. Suffice to say, HLM should be practiced by all health professionals, prescribing a personalized healthy living polypill to individuals under their care while titrating the dosage for optimal adherence and therapeutic efficacy. Traditionally, HLM, particularly when practiced in the context of physical activity and diet, is commonly viewed as an all-or-none and one-size-fits-all paradigm. As an example, there has been a dichotomous perception to physical activity messaging, where achieving anything less than 150 minutes of moderate-intensity physical activity per day is not beneficial. The same holds true for the all-or-none perception of 5 servings of fruits and vegetables per day; anything less is not beneficial. While these are certainly desirable targets, healthy living practices at levels below current guidelines portend significant health benefits. Precision medicine is defined as "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person." Much of the focus in precision medicine has been directed toward genomics and only recently has the influence of environment and lifestyle been considered. This review will highlight the importance of HLM directed toward the prevention and treatment of chronic diseases in the context of precision medicine.
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Antioxidants in Personalized Nutrition and Exercise.
Margaritelis, NV, Paschalis, V, Theodorou, AA, Kyparos, A, Nikolaidis, MG
Advances in nutrition (Bethesda, Md.). 2018;(6):813-823
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Abstract
The present review highlights the idea that antioxidant supplementation can be optimized when tailored to the precise antioxidant status of each individual. A novel methodologic approach involving personalized nutrition, the mechanisms by which antioxidant status regulates human metabolism and performance, and similarities between antioxidants and other nutritional supplements are described. The usefulness of higher-level phenotypes for data-driven personalized treatments is also explained. We conclude that personally tailored antioxidant interventions based on specific antioxidant inadequacies or deficiencies could result in improved exercise performance accompanied by consistent alterations in redox profile.
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Classification of obesity targeted personalized dietary weight loss management based on carbohydrate tolerance.
Astrup, A, Hjorth, MF
European journal of clinical nutrition. 2018;(9):1300-1304
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Staging the Host: Personalizing Risk Assessment for Radical Cystectomy Patients.
Psutka, SP, Barocas, DA, Catto, JWF, Gore, JL, Lee, CT, Morgan, TM, Master, VA, Necchi, A, Rouprêt, M, Boorjian, SA
European urology oncology. 2018;(4):292-304
Abstract
CONTEXT Perioperative and long-term functional and oncologic outcomes following radical cystectomy (RC) for localized bladder cancer remain unchanged despite advances in technique and perioperative management, as well as neoadjuvant and adjuvant therapy. Accurate assessment of a patient's perioperative risk is critical to inform preoperative counseling and determine a patient's fitness for RC. OBJECTIVE To review and synthesize conventional and novel objective patient-specific risk assessment tools that may be incorporated into clinical practice for perioperative risk prognostication with respect to both postoperative complications and long-term oncologic outcomes, patient counseling, and decision-making when RC is being considered. EVIDENCE ACQUISITION A collaborative review was performed to synthesize currently available evidence on comorbidity, age, body composition, nutrition, frailty, and geriatric assessments for patients undergoing RC. EVIDENCE SYNTHESIS Current guidelines recommend that pre-RC risk assessment should take into account age, performance status, and comorbidity. However, conventional comorbidity indices perform inconsistently in accurate assessment of the risk of perioperative complications, prolonged rehabilitation, and long-term oncologic outcomes. Novel metrics including standardized assessments of dependency, comorbidity severity, sarcopenia, malnutrition, physical and cognitive frailty, and comprehensive geriatric assessments may offer more precise estimates of physiologic age and relative vulnerability to adverse outcomes following RC. CONCLUSIONS Perioperative risk assessment before RC should incorporate objective measures of physiologic age, physical function, nutrition, lean muscularity, and frailty. The use of standardized multidimensional instruments should be encouraged for patients undergoing consideration for RC to identify potentially modifiable risk factors that can be targeted with prehabilitation interventions. Future work is needed to validate the performance of these metrics with respect to predicting perioperative complications and oncologic outcomes and to define and assess the effectiveness of specific prehabilitation interventions to optimize patients before surgery. PATIENT SUMMARY We review several metrics that doctors can use to measure the risks associated with bladder removal, a major surgical procedure. Moving beyond evaluating a patient's age, the burden of other health problems, and surgeon intuition, these tools may be used to counsel patients regarding their surgical risk, to predict oncologic outcomes, and to help identify potential interventions to improve surgical readiness.
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Continuous renal replacement therapy: individualization of the prescription.
Haines, RW, Kirwan, CJ, Prowle, JR
Current opinion in critical care. 2018;(6):443-449
Abstract
PURPOSE OF REVIEW Continuous renal replacement therapy (CRRT) is now the mainstay of renal organ support in the critically ill. As our understanding of CRRT delivery and its impact on patient outcomes improves there is a focus on researching the potential benefits of tailored, patient-specific treatments to meet dynamic needs. RECENT FINDINGS The most up-to-date studies investigating aspects of CRRT prescription that can be individualized: CRRT dose, timing, fluid management, membrane selection, anticoagulation and vascular access are reviewed. The use of different doses of CRRT lack conventional high-quality evidence and importantly studies reveal variation in assessment of dose delivery. Research reveals conflicting evidence for clinicians in distinguishing which patients will benefit from 'watchful waiting' vs. early initiation of CRRT. Both dynamic CRRT dosing and precision fluid management using CRRT are difficult to investigate and currently only observational data supports individualization of prescriptions. Similarly, individualization of membrane choice is largely experimental. SUMMARY Clinicians have limited evidence to individualize the prescription of CRRT. To develop this, we need to understand the requirements for renal support for individual patients, such as electrolyte imbalance, fluid overload or clearance of systemic inflammatory mediators to allow us to target these abnormalities in appropriately designed randomized trials.
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A Tailored Letter Based on Electronic Health Record Data Improves Gestational Weight Gain Among Women With Gestational Diabetes Mellitus: The Gestational Diabetes' Effects on Moms (GEM) Cluster-Randomized Controlled Trial.
Hedderson, MM, Brown, SD, Ehrlich, SF, Tsai, AL, Zhu, Y, Quesenberry, CP, Crites, Y, Ferrara, A
Diabetes care. 2018;(7):1370-1377
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OBJECTIVE Evaluate whether a tailored letter improved gestational weight gain (GWG) and whether GWG mediated a multicomponent intervention's effect on postpartum weight retention among women with gestational diabetes mellitus (GDM). RESEARCH DESIGN AND METHODS A cluster-randomized controlled trial of 44 medical facilities (n = 2,014 women) randomized to usual care or a multicomponent lifestyle intervention delivered during pregnancy (tailored letter) and postpartum (13 telephone sessions) to reduce postpartum weight retention. The tailored letter, using electronic health record (EHR) data, recommended an end-of-pregnancy weight goal tailored to prepregnancy BMI and GWG trajectory at GDM diagnosis: total GWG at the lower limit of the IOM range if BMI ≥18.5 kg/m2 or the midpoint if <18.5 kg/m2 and weight maintenance if women had exceeded this. The outcomes for this study were the proportion of women meeting the Institute of Medicine (IOM) guidelines for weekly rate of GWG from GDM diagnosis to delivery and meeting the end-of-pregnancy weight goal. RESULTS The tailored letter significantly increased the proportion of women meeting the IOM guidelines (72.6% vs. 67.1%; relative risk 1.08 [95% CI 1.01-1.17]); results were similar among women with BMI <25.0 kg/m2 (1.07 [1.00-1.15]) and ≥25.0 kg/m2 (1.08 [0.98-1.18]). Thirty-six percent in the intervention vs. 33.0% in usual care met the end-of-pregnancy weight goal (1.08 [0.99-1.18]); the difference was statistically significant among women with BMI <25.0 kg/m2 (1.28 [1.05-1.57]) but not ≥25.0 kg/m2 (0.99 [0.87-1.13]). Meeting the IOM guidelines mediated the effect of the multicomponent intervention in reducing postpartum weight retention by 24.6% (11.3-37.8%). CONCLUSIONS A tailored EHR-based letter improved GWG, which mediated the effect of a multicomponent intervention in reducing postpartum weight retention.
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Lifestyle and periodontitis: The emergence of personalized periodontics.
Bartold, PM
Periodontology 2000. 2018;(1):7-11
Abstract
Personalized medicine is a medical model that involves the tailoring of healthcare - with medical decisions, practices, and/or products being customized to an individual patient. In this model, diagnostic testing is often employed for selecting appropriate and optimal therapies based on the context of a patient's genetic content or other epidemiologic, sociologic, molecular, physiologic, or cellular analyses. With the advent of major advances in periodontal medicine, including genomic discoveries and greater understanding of the multifactorial nature of periodontitis, it seems that the time is ripe to use personalized medicine as a model for personalized periodontics. This volume of Periodontology 2000 explores how new advances in our understanding of periodontitis within a medical model can evolve into new treatment strategies tailor-made for individual patients and not merely based on wholesale treatment paradigms.
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Circulating MicroRNA Biomarkers in Melanoma: Tools and Challenges in Personalised Medicine.
Mumford, SL, Towler, BP, Pashler, AL, Gilleard, O, Martin, Y, Newbury, SF
Biomolecules. 2018;(2)
Abstract
Effective management of melanoma depends heavily on early diagnosis. When detected in early non-metastatic stages, melanoma is almost 100% curable by surgical resection, however when detected in late metastatic stages III and IV, 5-year survival rates drop to ~50% and 10⁻25%, respectively, due to limited efficacy of current treatment options. This presents a pressing need to identify biomarkers that can detect patients at high risk of recurrence and progression to metastatic disease, which will allow for early intervention and survival benefit. Accumulating evidence over the past few decades has highlighted the potential use of circulating molecular biomarkers for melanoma diagnosis and prognosis, including lactate dehydrogenase (LDH), S100 calcium-binding protein B (S100B) and circulating tumor DNA (ctDNA) fragments. Since 2010, circulating microRNAs (miRNAs) have been increasingly recognised as more robust non-invasive biomarkers for melanoma due to their structural stability under the harsh conditions of the blood and different conditions of sample processing and isolation. Several pre-analytical and analytical variables challenge the accurate quantification of relative miRNA levels between serum samples or plasma samples, leading to conflicting findings between studies on circulating miRNA biomarkers for melanoma. In this review, we provide a critical summary of the circulating miRNA biomarkers for melanoma published to date.