Subjects -> MEDICAL SCIENCES (Total: 8642 journals)
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MEDICAL SCIENCES (2392 journals)            First | 3 4 5 6 7 8 9 10 | Last

Showing 1201 - 1400 of 3562 Journals sorted alphabetically
Journal of Foot and Ankle Research     Open Access   (Followers: 5)
Journal of Forensic Science and Research     Open Access   (Followers: 2)
Journal of Gandaki Medical College-Nepal     Open Access  
Journal of Generic Medicines     Hybrid Journal   (Followers: 2)
Journal of Geographical Sciences     Hybrid Journal   (Followers: 1)
Journal of Global Antimicrobial Resistance     Hybrid Journal   (Followers: 3)
Journal of Hand Therapy     Hybrid Journal   (Followers: 18)
Journal of Head & Neck Physicians and Surgeons     Open Access   (Followers: 2)
Journal of Health & Medical Informatics     Open Access   (Followers: 61)
Journal of Health and Biological Sciences     Open Access   (Followers: 1)
Journal of Health Design     Open Access   (Followers: 1)
Journal of Health Economics and Outcomes Research     Open Access   (Followers: 1)
Journal of Health Promotion and Behavior     Open Access  
Journal of Health Research and Reviews     Open Access  
Journal of Health Science and Medical Research     Open Access  
Journal of Health Science Research     Open Access  
Journal of Health Sciences     Open Access   (Followers: 1)
Journal of health sciences     Open Access  
Journal of Health Sciences / Sağlık Bilimleri Dergisi     Open Access  
Journal of Health Sciences and Medicine     Open Access  
Journal of Health Sciences and Medicine     Open Access   (Followers: 2)
Journal of Health Sciences and Surveillance System     Open Access  
Journal of Health Sciences Scholarship     Open Access  
Journal of Health Specialties     Open Access  
Journal of Health Studies     Open Access  
Journal of Healthcare Informatics Research     Hybrid Journal   (Followers: 1)
Journal of Heavy Metal Toxicity and Diseases     Open Access  
Journal of Helminthology     Hybrid Journal   (Followers: 2)
Journal of Herbs Spices & Medicinal Plants     Hybrid Journal  
Journal of HIV for Clinical and Scientific Research     Open Access   (Followers: 2)
Journal of Hospital Medicine     Hybrid Journal   (Followers: 10)
Journal of Huazhong University of Science and Technology [Medical Sciences]     Hybrid Journal  
Journal of Human Hypertension     Hybrid Journal   (Followers: 3)
Journal of Human Rhythm     Open Access  
Journal of Human Transcriptome     Open Access  
Journal of Ideas in Health     Open Access  
Journal of Inflammation     Open Access   (Followers: 2)
Journal of Inflammation Research     Open Access  
Journal of Injury and Violence Research     Open Access   (Followers: 7)
Journal of Innovation in Health Informatics     Open Access   (Followers: 17)
Journal of Institute of Medicine     Open Access  
Journal of Insulin Resistance     Open Access   (Followers: 1)
Journal of Interactional Research in Communication Disorders     Hybrid Journal   (Followers: 5)
Journal of Interferon & Cytokine Research     Hybrid Journal   (Followers: 3)
Journal of International Medical Research     Open Access   (Followers: 4)
Journal of Interventional Medicine     Open Access   (Followers: 1)
Journal of Investigative Medicine     Hybrid Journal   (Followers: 3)
Journal of Islamabad Medical & Dental College     Open Access   (Followers: 1)
Journal of Istanbul Faculty of Medicine     Open Access  
Journal of Karnali Academy of Health Sciences     Open Access   (Followers: 1)
Journal of Kathmandu Medical College     Open Access   (Followers: 1)
Journal of King Abdulaziz University : Medical Sciences     Open Access   (Followers: 2)
Journal of Laboratory Medicine     Hybrid Journal   (Followers: 27)
Journal of Laryngology and Voice     Open Access   (Followers: 11)
Journal of Lasers in Medical Sciences     Open Access  
Journal of Law, Medicine & Ethics     Hybrid Journal   (Followers: 24)
Journal of Legal Medicine     Hybrid Journal   (Followers: 7)
Journal of Limb Lengthening & Reconstruction     Open Access  
Journal of Lumbini Medical College     Open Access   (Followers: 1)
Journal of Mahatma Gandhi Institute of Medical Sciences     Open Access  
Journal of Manipulative and Physiological Therapeutics     Hybrid Journal   (Followers: 6)
Journal of Manmohan Memorial Institute of Health Sciences     Open Access   (Followers: 1)
Journal of Marine Medical Society     Open Access  
Journal of Materials Science : Materials in Medicine     Hybrid Journal   (Followers: 4)
Journal of Maternal and Child Health     Open Access  
Journal of Mechanics in Medicine and Biology     Hybrid Journal  
Journal of Medical and Biological Engineering     Hybrid Journal   (Followers: 4)
Journal of Medical and Biomedical Sciences     Open Access   (Followers: 2)
Journal of Medical Case Reports     Open Access   (Followers: 1)
Journal of Medical Cases     Open Access   (Followers: 6)
Journal of Medical Colleges of PLA     Full-text available via subscription  
Journal of Medical Disorders     Open Access  
Journal of Medical Economics     Hybrid Journal   (Followers: 8)
Journal of Medical Education and Curricular Development     Open Access   (Followers: 6)
Journal of Medical Ethics     Partially Free   (Followers: 25)
Journal of Medical Ethics and History of Medicine     Open Access   (Followers: 15)
Journal of Medical Humanities     Hybrid Journal   (Followers: 21)
Journal of Medical Hypotheses and Ideas     Open Access  
Journal of Medical Imaging and Health Informatics     Full-text available via subscription   (Followers: 1)
Journal of Medical Investigation and Practice     Open Access  
Journal of Medical Laboratory and Diagnosis     Open Access  
Journal of Medical Law and Ethics     Full-text available via subscription   (Followers: 15)
Journal of Medical Microbiology     Full-text available via subscription   (Followers: 6)
Journal of Medical Sciences     Open Access  
Journal of Medical Sciences     Open Access  
Journal of Medical Screening     Hybrid Journal   (Followers: 6)
Journal of Medical Signals and Sensors     Open Access   (Followers: 3)
Journal of Medical Society     Open Access  
Journal of Medical Systems     Hybrid Journal  
Journal of Medical Toxicology     Hybrid Journal   (Followers: 6)
Journal of Medical Ultrasound     Open Access   (Followers: 2)
Journal of Medicinal Botany     Open Access  
Journal of Medicinal Chemistry     Hybrid Journal   (Followers: 201)
Journal of Medicine     Open Access   (Followers: 1)
Journal of Medicine and Biomedical Research     Open Access   (Followers: 1)
Journal of Medicine and Philosophy     Hybrid Journal   (Followers: 8)
Journal of Medicine and the Person     Hybrid Journal  
Journal of Medicine in Scientific Research     Open Access  
Journal of Medicine in the Tropics     Open Access  
Journal of Medicine Research and Development     Open Access   (Followers: 3)
Journal of Medicine, Physiology and Biophysics     Open Access   (Followers: 5)
Journal of Medicines Development Sciences     Open Access   (Followers: 1)
Journal of Metabolomics & Systems Biology     Open Access   (Followers: 1)
Journal of Mind and Medical Sciences     Open Access   (Followers: 1)
Journal of Molecular Medicine     Hybrid Journal   (Followers: 11)
Journal of Movement Disorders     Open Access   (Followers: 2)
Journal of Muscle Research and Cell Motility     Hybrid Journal   (Followers: 1)
Journal of Nanotechnology in Engineering and Medicine     Full-text available via subscription   (Followers: 6)
Journal of Nanotheranostics     Open Access   (Followers: 1)
Journal of Natural Medicines     Hybrid Journal  
Journal of Natural Science, Biology and Medicine     Open Access   (Followers: 3)
Journal of Nature and Science of Medicine     Open Access   (Followers: 4)
Journal of Negative and No Positive Results     Open Access  
Journal of Nepalgunj Medical College     Open Access  
Journal of Neurocritical Care     Open Access  
Journal of Neurodegenerative Diseases     Open Access   (Followers: 2)
Journal of Neurorestoratology     Open Access  
Journal of Neuroscience and Neurological Disorders     Open Access  
Journal of Nobel Medical College     Open Access  
Journal of Obesity and Bariatrics     Open Access   (Followers: 1)
Journal of Occupational Health     Open Access  
Journal of Occupational Therapy Education     Open Access   (Followers: 10)
Journal of Ocular Biology, Diseases, and Informatics     Hybrid Journal  
Journal of Oral Biology and Craniofacial Research     Full-text available via subscription  
Journal of Oral Health and Craniofacial Science     Open Access  
Journal of Orofacial Sciences     Open Access  
Journal of Otorhinolaryngology, Hearing and Balance Medicine     Open Access   (Followers: 1)
Journal of Ovarian Research     Open Access  
Journal of Ozone Therapy     Open Access  
Journal of Palliative Medicine     Hybrid Journal   (Followers: 47)
Journal of Paramedical Sciences & Rehabilitation     Open Access  
Journal of Parkinsonism and Restless Legs Syndrome     Open Access   (Followers: 2)
Journal of Parkinson’s Disease and Alzheimer’s Disease     Open Access   (Followers: 1)
Journal of Participatory Medicine     Open Access  
Journal of Patan Academy of Health Sciences     Open Access  
Journal of Pathogens     Open Access   (Followers: 1)
Journal of Patient Experience     Open Access  
Journal of Patient Safety and Risk Management     Hybrid Journal   (Followers: 2)
Journal of Patient-Centered Research and Reviews     Open Access  
Journal of Patient-Reported Outcomes     Open Access  
Journal of Periodontal Research     Hybrid Journal  
Journal of Personalized Medicine     Open Access   (Followers: 3)
Journal of Pest Science     Hybrid Journal   (Followers: 1)
Journal of Pharmaceutical Policy and Practice     Open Access   (Followers: 4)
Journal of Physiobiochemical Metabolism     Hybrid Journal   (Followers: 2)
Journal of Physiology-Paris     Hybrid Journal   (Followers: 2)
Journal of Pioneering Medical Sciences     Open Access  
Journal of Postgraduate Medicine     Open Access  
Journal of Pregnancy     Open Access   (Followers: 4)
Journal of Prevention & Intervention Community     Hybrid Journal   (Followers: 6)
Journal of Preventive Medicine and Public Health     Open Access  
Journal of Primary Prevention     Hybrid Journal   (Followers: 7)
Journal of Prosthodontic Research     Full-text available via subscription   (Followers: 1)
Journal of Prosthodontics     Hybrid Journal   (Followers: 2)
Journal of Receptor, Ligand and Channel Research     Open Access  
Journal of Regenerative Medicine     Partially Free   (Followers: 4)
Journal of Research in Medical Sciences     Open Access   (Followers: 2)
Journal of Science and Applications : Biomedicine     Open Access   (Followers: 1)
Journal of Science and Technology (Ghana)     Open Access   (Followers: 3)
Journal of Scientific Innovation in Medicine     Open Access  
Journal of Scientific Perspectives     Open Access   (Followers: 1)
Journal of Sensory Studies     Hybrid Journal   (Followers: 4)
Journal of Shaheed Suhrawardy Medical College     Open Access  
Journal of Shoulder and Elbow Arthroplasty     Open Access  
Journal of Sleep Disorders : Treatment & Care     Hybrid Journal   (Followers: 10)
Journal of South American Earth Sciences     Hybrid Journal   (Followers: 5)
Journal of Spinal Cord Medicine     Hybrid Journal   (Followers: 4)
Journal of Spinal Disorders & Techniques     Hybrid Journal   (Followers: 2)
Journal of Sports Medicine and Allied Health Sciences : Official Journal of the Ohio Athletic Trainers Association     Open Access   (Followers: 1)
Journal of Stem Cell Therapy and Transplantation     Open Access   (Followers: 1)
Journal of Stomal Therapy Australia     Full-text available via subscription  
Journal of Strength and Conditioning Research     Hybrid Journal   (Followers: 75)
Journal of Substance Use     Hybrid Journal   (Followers: 14)
Journal of Surgical Academia     Open Access   (Followers: 1)
Journal of Surgical and Clinical Research     Open Access  
Journal of Surgical Case Reports     Open Access  
Journal of Surgical Education     Full-text available via subscription   (Followers: 3)
Journal of Surgical Technique and Case Report     Open Access  
Journal of Systemic Therapies     Full-text available via subscription   (Followers: 3)
Journal of Taibah University Medical Sciences     Open Access  
Journal of Telemedicine and Telecare     Hybrid Journal   (Followers: 12)
Journal of The Academy of Clinical Microbiologists     Open Access  
Journal of the American Association for Laboratory Animal Science     Full-text available via subscription   (Followers: 7)
Journal of the American College of Certified Wound Specialists     Hybrid Journal   (Followers: 2)
Journal of the American College of Clinical Wound Specialists     Hybrid Journal   (Followers: 2)
Journal of the American Medical Directors Association     Hybrid Journal   (Followers: 5)
Journal of the American Medical Informatics Association : JAMIA     Hybrid Journal   (Followers: 35)
Journal of the American Podiatric Medical Association     Full-text available via subscription   (Followers: 7)
Journal of the Anatomical Society of India     Full-text available via subscription  
Journal of the Anus, Rectum and Colon     Open Access  
Journal of The Arab Society for Medical Research     Open Access  
Journal of the Australasian College of Nutritional and Environmental Medicine     Full-text available via subscription  
Journal of the Australasian Society of Aerospace Medicine     Open Access   (Followers: 1)
Journal of the Ceylon College of Physicians     Open Access  
Journal of the Chinese Medical Association     Open Access   (Followers: 2)
Journal of the College of Community Physicians of Sri Lanka     Open Access  
Journal of The Egyptian Public Health Association     Open Access   (Followers: 1)
Journal of the Formosan Medical Association     Open Access   (Followers: 2)
Journal of the Georgia Public Health Association     Open Access   (Followers: 3)
Journal of the Ghana Science Association     Full-text available via subscription   (Followers: 3)

  First | 3 4 5 6 7 8 9 10 | Last

Similar Journals
Journal Cover
Journal of Personalized Medicine
Journal Prestige (SJR): 1.269
Citation Impact (citeScore): 3
Number of Followers: 3  

  This is an Open Access Journal Open Access journal
ISSN (Online) 2075-4426
Published by MDPI Homepage  [230 journals]
  • JPM, Vol. 10, Pages 20: Flotillin: A Promising Biomarker for
           Alzheimer’s Disease

    • Authors: Angelopoulou, Paudel, Shaikh, Piperi
      First page: 20
      Abstract: Alzheimer’s disease (AD) is characterized by the accumulation of beta amyloid (Aβ) in extracellular senile plaques and intracellular neurofibrillary tangles (NFTs) mainly consisting of tau protein. Although the exact etiology of the disease remains elusive, accumulating evidence highlights the key role of lipid rafts, as well as the endocytic pathways in amyloidogenic amyloid precursor protein (APP) processing and AD pathogenesis. The combination of reduced Aβ42 levels and increased phosphorylated tau protein levels in the cerebrospinal fluid (CSF) is the most well established biomarker, along with Pittsburgh compound B and positron emission tomography (PiB-PET) for amyloid imaging. However, their invasive nature, the cost, and their availability often limit their use. In this context, an easily detectable marker for AD diagnosis even at preclinical stages is highly needed. Flotillins, being hydrophobic proteins located in lipid rafts of intra- and extracellular vesicles, are mainly involved in signal transduction and membrane–protein interactions. Accumulating evidence highlights the emerging implication of flotillins in AD pathogenesis, by affecting APP endocytosis and processing, Ca2+ homeostasis, mitochondrial dysfunction, neuronal apoptosis, Aβ-induced neurotoxicity, and prion-like spreading of Aβ. Importantly, there is also clinical evidence supporting their potential use as biomarker candidates for AD, due to reduced serum and CSF levels that correlate with amyloid burden in AD patients compared with controls. This review focuses on the emerging preclinical and clinical evidence on the role of flotillins in AD pathogenesis, further addressing their potential usage as disease biomarkers.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-03-26
      DOI: 10.3390/jpm10020020
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 21: Applications of Machine Learning Predictive Models
           in the Chronic Disease Diagnosis

    • Authors: Gopi Battineni, Getu Gamo Sagaro, Nalini Chinatalapudi, Francesco Amenta
      First page: 21
      Abstract: This paper reviews applications of machine learning (ML) predictive models in the diagnosis of chronic diseases. Chronic diseases (CDs) are responsible for a major portion of global health costs. Patients who suffer from these diseases need lifelong treatment. Nowadays, predictive models are frequently applied in the diagnosis and forecasting of these diseases. In this study, we reviewed the state-of-the-art approaches that encompass ML models in the primary diagnosis of CD. This analysis covers 453 papers published between 2015 and 2019, and our document search was conducted from PubMed (Medline), and Cumulative Index to Nursing and Allied Health Literature (CINAHL) libraries. Ultimately, 22 studies were selected to present all modeling methods in a precise way that explains CD diagnosis and usage models of individual pathologies with associated strengths and limitations. Our outcomes suggest that there are no standard methods to determine the best approach in real-time clinical practice since each method has its advantages and disadvantages. Among the methods considered, support vector machines (SVM), logistic regression (LR), clustering were the most commonly used. These models are highly applicable in classification, and diagnosis of CD and are expected to become more important in medical practice in the near future.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-03-31
      DOI: 10.3390/jpm10020021
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 22: The “develOpment of metabolic and functional
           markers of Dementia IN Older people” (ODINO) Study: Rationale, Design
           and Methods

    • Authors: Anna Picca, Daniela Ronconi, Hélio J. Coelho-Junior, Riccardo Calvani, Federico Marini, Alessandra Biancolillo, Jacopo Gervasoni, Aniello Primiano, Cristina Pais, Eleonora Meloni, Domenico Fusco, Maria Rita Lo Monaco, Roberto Bernabei, Maria Camilla Cipriani, Emanuele Marzetti, Rosa Liperoti
      First page: 22
      Abstract: Mild cognitive impairment (MCI), also termed mild neurocognitive disorder, includes a heterogeneous group of conditions characterized by declines in one or more cognitive domains greater than that expected during “normal” aging but not severe enough to impair functional abilities. MCI has been associated with an increased risk of developing dementia and even considered an early stage of it. Therefore, noninvasively accessible biomarkers of MCI are highly sought after for early identification of the condition. Systemic inflammation, metabolic perturbations, and declining physical performance have been described in people with MCI. However, whether biological and functional parameters differ across MCI neuropsychological subtypes is presently debated. Likewise, the predictive value of existing biomarkers toward MCI conversion into dementia is unclear. The “develOpment of metabolic and functional markers of Dementia IN Older people” (ODINO) study was conceived as a multi-dimensional investigation in which multi-marker discovery will be coupled with innovative statistical approaches to characterize patterns of systemic inflammation, metabolic perturbations, and physical performance in older adults with MCI. The ultimate aim of ODINO is to identify potential biomarkers specific for MCI subtypes and predictive of MCI conversion into Alzheimer’s disease or other forms of dementia over a three-year follow-up. Here, we describe the rationale, design, and methods of ODINO.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-09
      DOI: 10.3390/jpm10020022
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 23: A Global Review on the Utility of Genetic Testing
           for Familial Hypercholesterolemia

    • Authors: Rachele M. Hendricks-Sturrup, Jodi Clark-LoCascio, Christine Y. Lu
      First page: 23
      Abstract: Familial hypercholesterolemia (FH) is a genetic disorder of cholesterol metabolism that affects an estimated 1/250 persons in the United States and abroad. FH is hallmarked by high low-density lipoprotein (LDL) cholesterol and an increased risk of premature atherosclerotic cardiovascular disease. This review summarizes recent global evidence showing the utility of FH genetic testing across diverse populations. Clinical and other qualitative outcomes following FH genetic testing were improved FH diagnosis, treatment initiation or continued treatment, treatment modification, improved total or LDL cholesterol levels, education on lifestyle management, and genetic counseling. This summary of evidence should be considered by those seeking overall evidence and knowledge gaps on the utility of FH genetic testing from a global perspective and for certain ethnic and age populations. These findings can be used to inform insurance policies and coverage decisions for FH genetic testing, policy recommendations to reduce the clinical and public health burden of FH, clinical practice and guidelines to improve the management of FH populations, and ongoing research involving FH genetic testing. We conclude that further investigations are needed to examine: (1) non-clinical outcomes following FH genetic testing; (2) patient-reported outcomes following FH genetic testing to convey patient experiences, values, and goals; and (3) clinical outcomes following FH genetic testing in non-Caucasian and pediatric populations in the United States and abroad.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-14
      DOI: 10.3390/jpm10020023
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 24: Neutral, Negative, or Negligible' Changes in
           Patient Perceptions of Disease Risk Following Receipt of a Negative
           Genomic Screening Result

    • Authors: Kelsey Stuttgen, Joel Pacyna, Iftikhar Kullo, Richard Sharp
      First page: 24
      Abstract: Most individuals who undergo genomic screening will receive negative results or results not sufficient to warrant a clinical response. Even though a majority of individuals receive negative results, little is known about how negative results may impact individuals’ perception of disease risk. Changes in risk perception (specifically reductions in perceived risk) may affect both probands and their family members if inaccurate information is communicated to family members. We surveyed patients who received negative results as part of their participation in a genomic screening study and assessed their perceptions of disease risk following receipt of results. Participants had either hyperlipidemia or colon polyps (or both) and received their negative genomic screening results by mail. Of 1712 total individuals recruited, 1442 completed the survey (84.2% completion rate). Approximately one quarter of individuals believed their risk for heart disease to be lower and approximately one third of individuals believed their risk for colon cancer to be lower after receiving and evaluating their negative genomic screening result. 78% of those who believed their risk for one or both diseases had declined had already shared or intended to share their result with family members. Our study suggests patients may interpret a negative genomic screening result as implying a reduction in their overall disease risk.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-17
      DOI: 10.3390/jpm10020024
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 25: The Brain Metabolic Correlates of the Main Indices
           of Neuropsychological Assessment in Alzheimer’s Disease

    • Authors: Agostino Chiaravalloti, Maria Ricci, Daniele Di Biagio, Luca Filippi, Alessandro Martorana, Orazio Schillaci
      First page: 25
      Abstract: Background: The study aimed to investigate the relationships between F-18 fluorodeoxyglucose (18F)FDG uptake and neuropsychological assessment in Alzheimer’s disease (AD). Methods: We evaluated 116 subjects with AD according to the NINCDS-ADRDA criteria. All the subjects underwent a brain PET/CT with (18F)FDG, cerebrospinal fluid (CSF) assay, mini-mental state examination (MMSE) and further neuropsychological tests: Rey auditory verbal learning test, immediate recall (RAVLT immediate); Rey auditory verbal learning test, delayed recall (RAVLT, delayed); Rey complex figure test, copy (RCFT, copy); Rey complex figure test, delayed recall (RCFT, delayed); Raven’s colored progressive matrices (RCPM); phonological word fluency test (PWF) and Stroop test. We performed the statistical analysis by using statistical parametric mapping (SPM12; Wellcome Department of Cognitive Neurology, London, UK). Results: A significant relationship has been reported between (18F)FDG uptake and RAVLT immediate test in Brodmann area (BA)37 and BA22 and with RCFT, copy in BA40, and BA7. We did not find any significant relationships with other tests. Conclusion: In the AD population, brain (18F)FDG uptake is moderately related to the neuropsychological assessment, suggesting a limited impact on statistical data analysis of glucose brain metabolism.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-18
      DOI: 10.3390/jpm10020025
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 26: New Insights into the Molecular Bases of Familial
           Alzheimer’s Disease

    • Authors: D’Argenio, Sarnataro
      First page: 26
      Abstract: Like several neurodegenerative disorders, such as Prion and Parkinson diseases, Alzheimer’s disease (AD) is characterized by spreading mechanism of aggregated proteins in the brain in a typical “prion-like” manner. Recent genetic studies have identified in four genes associated with inherited AD (amyloid precursor protein-APP, Presenilin-1, Presenilin-2 and Apolipoprotein E), rare mutations which cause dysregulation of APP processing and alterations of folding of the derived amyloid beta peptide (A). Accumulation and aggregation of A in the brain can trigger a series of intracellular events, including hyperphosphorylation of tau protein, leading to the pathological features of AD. However, mutations in these four genes account for a small of the total genetic risk for familial AD (FAD). Genome-wide association studies have recently led to the identification of additional AD candidate genes. Here, we review an update of well-established, highly penetrant FAD-causing genes with correlation to the protein misfolding pathway, and novel emerging candidate FAD genes, as well as inherited risk factors. Knowledge of these genes and of their correlated biochemical cascade will provide several potential targets for treatment of AD and aging-related disorders.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-19
      DOI: 10.3390/jpm10020026
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 27: Opioid Induced Hyperalgesia, a Research Phenomenon
           or a Clinical Reality' Results of a Canadian Survey

    • Authors: Vargas-Schaffer, Paquet, Neron, Cogan
      First page: 27
      Abstract: Background: Very little is known regarding the prevalence of opioid induced hyperalgesia (OIH) in day to day medical practice. The aim of this study was to evaluate the physician’s perception of the prevalence of OIH within their practice, and to assess the level of physician’s knowledge with respect to the identification and treatment of this problem. Methods: An electronic questionnaire was distributed to physicians who work in anesthesiology, chronic pain, and/or palliative care in Canada. Results: Of the 462 responses received, most were from male (69%) anesthesiologists (89.6%), in the age range of 36 to 64 years old (79.8%). In this study, the suspected prevalence of OIH using the average number of patients treated per year with opioids was 0.002% per patient per physician practice year for acute pain, and 0.01% per patient per physician practice year for chronic pain. Most physicians (70.2%) did not use clinical tests to help make a diagnosis of OIH. The treatment modalities most frequently used were the addition of an NMDA antagonist, combined with lowering the opioid doses and using opioid rotation. Conclusions: The perceived prevalence of OIH in clinical practice is a relatively rare phenomenon. Furthermore, more than half of physicians did not use a clinical test to confirm the diagnosis of OIH. The two main treatment modalities used were NMDA antagonists and opioid rotation. The criteria for the diagnosis of OIH still need to be accurately defined.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-21
      DOI: 10.3390/jpm10020027
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 28: Statistical Shape Analysis of Ascending Thoracic
           Aortic Aneurysm: Correlation between Shape and Biomechanical Descriptors

    • Authors: Cosentino, Raffa, Gentile, Agnese, Bellavia, Pilato, Pasta
      First page: 28
      Abstract: An ascending thoracic aortic aneurysm (ATAA) is a heterogeneous disease showing different patterns of aortic dilatation and valve morphologies, each with distinct clinical course. This study aimed to explore the aortic morphology and the associations between shape and function in a population of ATAA, while further assessing novel risk models of aortic surgery not based on aortic size. Shape variability of n = 106 patients with ATAA and different valve morphologies (i.e., bicuspid versus tricuspid aortic valve) was estimated by statistical shape analysis (SSA) to compute a mean aortic shape and its deformation. Once the computational atlas was built, principal component analysis (PCA) allowed to reduce the complex ATAA anatomy to a few shape modes, which were correlated to shear stress and aortic strain, as determined by computational analysis. Findings demonstrated that shape modes are associated to specific morphological features of aneurysmal aorta as the vessel tortuosity and local bulging of the ATAA. A predictive model, built with principal shape modes of the ATAA wall, achieved better performance in stratifying surgically operated ATAAs versus monitored ATAAs, with respect to a baseline model using the maximum aortic diameter. Using current imaging resources, this study demonstrated the potential of SSA to investigate the association between shape and function in ATAAs, with the goal of developing a personalized approach for the treatment of the severity of aneurysmal aorta.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-22
      DOI: 10.3390/jpm10020028
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 29: Pharmacogenomic (PGx) Counseling: Exploring
           Participant Questions about PGx Test Results

    • Authors: Tara Schmidlen, Amy C. Sturm, Laura B. Scheinfeldt
      First page: 29
      Abstract: As pharmacogenomic (PGx) use in healthcare increases, a better understanding of patient needs will be necessary to guide PGx result delivery. The Coriell Personalized Medicine Collaborative (CPMC) is a prospective study investigating the utility of personalized medicine. Participants received online genetic risk reports for 27 potentially actionable complex diseases and 7 drug–gene pairs and could request free, telephone-based genetic counseling (GC). To explore the needs of individuals receiving PGx results, we conducted a retrospective qualitative review of inquiries from CPMC participants who requested counseling from March 2009 to February 2017. Eighty out of 690 (12%) total GC inquiries were focused on the discussion of PGx results, and six salient themes emerged: “general help”, “issues with drugs”, “relevant disease experience”, “what do I do now'”, “sharing results”, and “other drugs”. The number of reported medications with a corresponding PGx result and participant engagement were significantly associated with PGx GC requests (p < 0.01 and p < 0.02, respectively). Our work illustrates a range of questions raised by study participants receiving PGx test results, most of which were addressed by a genetic counselor with few requiring referrals to prescribing providers or pharmacists. These results further support a role for genetic counselors in the team-based approach to optimal PGx result delivery.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-23
      DOI: 10.3390/jpm10020029
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 30: Returning Results in the Genomic Era: Initial
           Experiences of the eMERGE Network

    • Authors: Georgia L. Wiesner, Alanna Kulchak Rahm, Paul Appelbaum, Sharon Aufox, Sarah T. Bland, Carrie L. Blout, Kurt D. Christensen, Wendy K. Chung, Ellen Wright Clayton, Robert C. Green, Margaret H. Harr, Nora Henrikson, Christin Hoell, Ingrid A. Holm, Gail P. Jarvik, Iftikhar J. Kullo, Philip E. Lammers, Eric B. Larson, Noralane M. Lindor, Maddalena Marasa, Melanie F. Myers, Josh F. Peterson, Cynthia A. Prows, James D. Ralston, Hila Milo Rasouly, Richard R. Sharp, Maureen E. Smith, Sara L. Van Driest, Janet L. Williams, Marc S. Williams, Julia Wynn, Kathleen A. Leppig
      First page: 30
      Abstract: A goal of the 3rd phase of the Electronic Medical Records and Genomics (eMERGE3) Network was to examine the return of results (RoR) of actionable variants in more than 100 genes to consenting participants and their healthcare providers. Each of the 10 eMERGE sites developed plans for three essential elements of the RoR process: Disclosure to the participant, notification of the health care provider, and integration of results into the electronic health record (EHR). Procedures and protocols around these three elements were adapted as appropriate to individual site requirements and limitations. Detailed information about the RoR procedures at each site was obtained through structured telephone interviews and follow-up surveys with the clinical investigator leading or participating in the RoR process at each eMERGE3 institution. Because RoR processes at each of the 10 sites allowed for taking into account differences in population, disease focus and institutional requirements, significant heterogeneity of process was identified, including variability in the order in which patients and clinicians were notified and results were placed in the EHR. This heterogeneity in the process flow for eMERGE3 RoR reflects the “real world” of genomic medicine in which RoR procedures must be shaped by the needs of the patients and institutional environments.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-27
      DOI: 10.3390/jpm10020030
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 31: Application of Machine Learning Technique to
           Distinguish Parkinson’s Disease Dementia and Alzheimer’s Dementia:
           Predictive Power of Parkinson’s Disease-Related Non-Motor Symptoms and
           Neuropsychological Profile

    • Authors: Byeon
      First page: 31
      Abstract: In order to develop a predictive model that can distinguish Parkinson's disease dementia (PDD) from other dementia types, such as Alzheimer's dementia (AD), it is necessary to evaluate and identify the predictive accuracy of the cognitive profile while considering the non-motor symptoms, such as depression and rapid eye movement (REM) sleep behavior disorders. This study compared Parkinson's disease (PD)’s non-motor symptoms and the diagnostic predictive power of cognitive profiles that distinguish AD and PD using machine learning. This study analyzed 118 patients with AD and 110 patients with PDD, and all subjects were 60 years or older. In order to develop the PDD prediction model, the dataset was divided into training data (70%) and test data (30%). The prediction accuracy of the model was calculated by the recognition rate. The results of this study show that Parkinson-related non-motor symptoms, such as REM sleep behavior disorders, and cognitive screening tests, such as Korean version of Montreal Cognitive Assessment, were highly accurate factors for predicting PDD. It is required to develop customized screening tests that can detect PDD in the early stage based on these results. Furthermore, it is believed that including biomarkers such as brain images or cerebrospinal fluid as input variables will be more useful for developing PDD prediction models in the future.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-28
      DOI: 10.3390/jpm10020031
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 32: Deficits in Mitochondrial Spare Respiratory
           Capacity Contribute to the Neuropsychological Changes of Alzheimer’s
           Disease

    • Authors: Simon M. Bell, Matteo De Marco, Katy Barnes, Pamela J. Shaw, Laura Ferraiuolo, Daniel J. Blackburn, Heather Mortiboys, Annalena Venneri
      First page: 32
      Abstract: Alzheimer’s disease (AD) is diagnosed using neuropsychological testing, supported by amyloid and tau biomarkers and neuroimaging abnormalities. The cause of neuropsychological changes is not clear since they do not correlate with biomarkers. This study investigated if changes in cellular metabolism in AD correlate with neuropsychological changes. Fibroblasts were taken from 10 AD patients and 10 controls. Metabolic assessment included measuring total cellular ATP, extracellular lactate, mitochondrial membrane potential (MMP), mitochondrial respiration and glycolytic function. All participants were assessed with neuropsychological testing and brain structural MRI. AD patients had significantly lower scores in delayed and immediate recall, semantic memory, phonemic fluency and Mini Mental State Examination (MMSE). AD patients also had significantly smaller left hippocampal, left parietal, right parietal and anterior medial prefrontal cortical grey matter volumes. Fibroblast MMP, mitochondrial spare respiratory capacity (MSRC), glycolytic reserve, and extracellular lactate were found to be lower in AD patients. MSRC/MMP correlated significantly with semantic memory, immediate and delayed episodic recall. Correlations between MSRC and delayed episodic recall remained significant after controlling for age, education and brain reserve. Grey matter volumes did not correlate with MRSC/MMP. AD fibroblast metabolic assessment may represent an emergent disease biomarker of AD.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-29
      DOI: 10.3390/jpm10020032
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 33: SPIDER as A Rehabilitation Tool for Patients with
           Neurological Disabilities: The Preliminary Research

    • Authors: Glowinski, Blazejewski
      First page: 33
      Abstract: (1) Background and purpose: SPIDER (Strengthening Program for Intensive Developmental Exercises and activities for Reaching health capability) is dedicated for patients suffering from Cerebral Palsy, Sclerosis Multiplex, Spinal Bifida, Spinal Muscular Atrophy and strokes.
      Authors proposed a computer model for the evaluation patient’s condition and the rehabilitation progress. (2) Methods: The 2-year-old and 76-year-old patients with neurological problems, who underwent individual therapy included balancing and coordination practising with SPIDER device. The model comparing the forces, which act during the therapy process, such as the expander and gravity forces, was worked out using Matlab software. (3) Results: The model allowed controlling the changes into the patients centre of gravity forces continuous adjustment and postural stability during any patient’s movement. After rehabilitation sessions, lasted for 28 days during which patients received the progress information and the therapist got the numeric data, regarding the period of the therapy. (4) Conclusions: The first patient was able to move, dramatically improved the ability to balance and coordination. The second one presented change in gait, improvement in mobility, motor function and decreased fall risk. The proposed computer model gives information about the forces acting to the patient body. The physiotherapist can evaluate the progress of patient verticalization and receive information, in the form of numbers and charts.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-30
      DOI: 10.3390/jpm10020033
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 34: Neurophysiological Hallmarks of Neurodegenerative
           Cognitive Decline: The Study of Brain Connectivity as A Biomarker of Early
           Dementia

    • Authors: Rossini, Miraglia, Alù, Cotelli, Ferreri, Iorio, Iodice, Vecchio
      First page: 34
      Abstract: Neurodegenerative processes of various types of dementia start years before symptoms, but the presence of a “neural reserve”, which continuously feeds and supports neuroplastic mechanisms, helps the aging brain to preserve most of its functions within the “normality” frame. Mild cognitive impairment (MCI) is an intermediate stage between dementia and normal brain aging. About 50% of MCI subjects are already in a stage that is prodromal-to-dementia and during the following 3 to 5 years will develop clinically evident symptoms, while the other 50% remains at MCI or returns to normal. If the risk factors favoring degenerative mechanisms are modified during early stages (i.e., in the prodromal), the degenerative process and the loss of abilities in daily living activities will be delayed. It is therefore extremely important to have biomarkers able to identify—in association with neuropsychological tests—prodromal-to-dementia MCI subjects as early as possible. MCI is a large (i.e., several million in EU) and substantially healthy population; therefore, biomarkers should be financially affordable, largely available and non-invasive, but still accurate in their diagnostic prediction. Neurodegeneration initially affects synaptic transmission and brain connectivity; methods exploring them would represent a 1st line screening. Neurophysiological techniques able to evaluate mechanisms of synaptic function and brain connectivity are attracting general interest and are described here. Results are quite encouraging and suggest that by the application of artificial intelligence (i.e., learning-machine), neurophysiological techniques represent valid biomarkers for screening campaigns of the MCI population.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-04-30
      DOI: 10.3390/jpm10020034
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 35: Personalized Dentistry: Approaching a New Way for
           Diagnosis and Treatment of Oral Diseases

    • Authors: Patini
      First page: 35
      Abstract: For years, it has been thought that the field of dentistry was referring exclusively to some diseases that strictly affect the oral cavity. Dental caries, periodontal disease, and pathologies associated with their worsening were considered almost the only interest in scientific research in dentistry. Recent studies have begun to shed light on the effect of the oral microbiota on general health and on the crucial role of dentistry in its maintenance. In this way, we came to understand that the bacterial populations that make up the oral microbiota can vary profoundly between individuals and that contribute in a fundamental way to outlining the so-called "oral signature". This characteristic is called into question to evaluate the susceptibility, or lack thereof, of the subject to the contraction of a wide range of pathologies, apparently not connected with oral health. From this evidence, it will also be possible to study therapeutic approaches aimed at the eradication of species considered at risk or colonization with species considered protective; thus, giving life to so-called "personalized dentistry". Therefore, this Special Issue is aimed at spreading the scientific knowledge over the current limits in terms of new molecular and culturomic approaches towards the diagnosis of oral microbiota and the treatment techniques of eventually associated systemic diseases. In vivo studies and systematic literature reviews with quantitative analysis of results, when possible, will be given a high priority.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-05-01
      DOI: 10.3390/jpm10020035
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 36: Comparison of the Hemodynamic Performance of Two
           Neuromuscular Electrical Stimulation Devices Applied to the Lower Limb

    • Authors: Sahar Avazzadeh, Andrea O’Farrell, Kate Flaherty, Sandra O’Connell, Gearóid ÓLaighin, Leo R. Quinlan
      First page: 36
      Abstract: Currently, 1% of the population of the Western world suffers from venous leg ulcers as a result of chronic venous insufficiency. Current treatment involves the use of moist wound healing, compression bandages, and intermittent pneumatic compression. Neuromuscular electrical stimulation is a novel potential new therapeutic method for the promotion of increased lower limb hemodynamics. The aim of this study was to measure the hemodynamic changes in the lower limb with the use of two neuromuscular electrical stimulation devices. Twelve healthy volunteers received two neuromuscular stimulation device interventions. The GekoTM and National University of Ireland (NUI) Galway neuromuscular electrical stimulation devices were randomized between dominant and non-dominant legs. Hemodynamic measurements of peak venous velocity (cm/s), the time average mean velocity (TAMEAN) (cm/s), and ejected volume (mL) of blood were recorded. Peak venous velocity was significantly increased by the GekoTM and the NUI Galway device compared to baseline blood flow (p < 0.0001), while only the voluntary contraction produced significant increases in TAMEAN and ejected volume (both p < 0.05). Neuromuscular muscular electrical stimulation can produce adequate increases in lower limb hemodynamics sufficient to prevent venous stasis. Greater use of neuromuscular stimulation devices could be considered in the treatment of conditions related to chronic venous insufficiency but requires further research.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-05-07
      DOI: 10.3390/jpm10020036
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 37: Future Trends in Nebulized Therapies for Pulmonary
           Disease

    • Authors: Sean D. McCarthy, Héctor E. González, Brendan D. Higgins
      First page: 37
      Abstract: Aerosol therapy is a key modality for drug delivery to the lungs of respiratory disease patients. Aerosol therapy improves therapeutic effects by directly targeting diseased lung regions for rapid onset of action, requiring smaller doses than oral or intravenous delivery and minimizing systemic side effects. In order to optimize treatment of critically ill patients, the efficacy of aerosol therapy depends on lung morphology, breathing patterns, aerosol droplet characteristics, disease, mechanical ventilation, pharmacokinetics, and the pharmacodynamics of cell-drug interactions. While aerosol characteristics are influenced by drug formulations and device mechanisms, most other factors are reliant on individual patient variables. This has led to increased efforts towards more personalized therapeutic approaches to optimize pulmonary drug delivery and improve selection of effective drug types for individual patients. Vibrating mesh nebulizers (VMN) are the dominant device in clinical trials involving mechanical ventilation and emerging drugs. In this review, we consider the use of VMN during mechanical ventilation in intensive care units. We aim to link VMN fundamentals to applications in mechanically ventilated patients and look to the future use of VMN in emerging personalized therapeutic drugs.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-05-10
      DOI: 10.3390/jpm10020037
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 38: Understanding the Return of Genomic Sequencing
           Results Process: Content Review of Participant Summary Letters in the
           eMERGE Research Network

    • Authors: John A. Lynch, Richard R. Sharp, Sharon A. Aufox, Sarah T. Bland, Carrie Blout, Deborah J. Bowen, Adam H. Buchanan, Colin Halverson, Margaret Harr, Scott J. Hebbring, Nora Henrikson, Christin Hoell, Ingrid A. Holm, Gail Jarvik, Iftikhar J. Kullo, David C. Kochan, Eric B. Larson, Amanda Lazzeri, Kathleen A. Leppig, Jill Madden, Maddalena Marasa, Melanie F. Myers, Josh Peterson, Cynthia A. Prows, Alanna Kulchak Rahm, James Ralston, Hila Milo Rasouly, Aaron Scrol, Maureen E. Smith, Amy Sturm, Kelsey Stuttgen, Georgia Wiesner, Marc S. Williams, Julia Wynn, Janet L. Williams
      First page: 38
      Abstract: A challenge in returning genomic test results to research participants is how best to communicate complex and clinically nuanced findings to participants in a manner that is scalable to the large numbers of participants enrolled. The purpose of this study was to examine the features of genetic results letters produced at each Electronic Medical Records and Genomics (eMERGE3) Network site to assess their readability and content. Letters were collected from each site, and a qualitative analysis of letter content and a quantitative analysis of readability statistics were performed. Because letters were produced independently at each eMERGE site, significant heterogeneity in readability and content was found. The content of letters varied widely from a baseline of notifying participants that results existed to more detailed information about positive or negative results, as well as materials for sharing with family members. Most letters were significantly above the Centers for Disease Control-suggested reading level for health communication. While continued effort should be applied to make letters easier to understand, the ongoing challenge of explaining complex genomic information, the implications of negative test results, and the uncertainty that comes with some types of test and result makes simplifying letter text challenging.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-05-13
      DOI: 10.3390/jpm10020038
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 39: Increased Demodex Density in Patients Hospitalized
           for Worsening Heart Failure

    • Authors: Yüksel, Yüksel
      First page: 39
      Abstract: Infection is an important factor leading to the exacerbation of heart failure (HF), resulting in hospitalization. Demodex species are obligatory parasites in human skin, and increased density was reported in immunocompromised patients. In this study, we aimed to investigate the Demodex density in hospitalized HF patients compared to that of healthy controls. Methods: This study included 36 HF patients and 36 age and sex-matched healthy controls. Five standardized biopsies were taken from the face of participants and assessed for Demodex by a light microscope. Results: At least one Demodex mite was detected in 20 HF patients and nine of the control group. The number of Demodex mites was significantly higher in the HF group (median 1; min. 0 and max. 10) compared to the control group (median 0; minimum. 0 and maximum. 3). Demodicidosis was positive in 14 of the HF patients. Demodicidosis was not detected in the control group. Conclusions: This study showed that Demodex positivity is more common in HF patients hospitalized for HF exacerbation. Demodicidosis should be considered in hospitalized HF patients.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-05-13
      DOI: 10.3390/jpm10020039
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 40: The CFTR Mutation c.3453G > C (D1152H) Confers
           an Anion Selectivity Defect in Primary Airway Tissue that Can Be Rescued
           by Ivacaftor

    • Authors: Laselva, Moraes, He, Bartlett, Szàrics, Ouyang, Gunawardena, Strug, Bear, Gonska
      First page: 40
      Abstract: The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variant, c.3453G > C (D1152H), is associated with mild Cystic Fibrosis (CF) disease, though there is considerable clinical variability ranging from no detectable symptoms to lung disease with early acquisition of Pseudomonas aeruginosa. The approval extension of ivacaftor, the first CFTR modulator drug approved, to include D1152H was based on a positive drug response of defective CFTR-D1152H chloride channel function when expressed in FRT cells. Functional analyses of primary human nasal epithelial cells (HNE) from an individual homozygous for D1152H now revealed that while CFTR-D1152H demonstrated normal, wild-type level chloride conductance, its bicarbonate-selective conductance was impaired. Treatment with ivacaftor increased this bicarbonate-selective conductance. Extensive genetic, protein and functional analysis of the nasal cells of this D1152H/D1152H patient revealed a 90% reduction of CFTR transcripts due to the homozygous presence of the 5T polymorphism in the poly-T tract forming a complex allele with D1152H. Thus, we confirm previous observation in patient-derived tissue that 10% normal CFTR transcripts confer normal, wild-type level chloride channel activity. Together, this study highlights the benefit of patient-derived tissues to study the functional expression and pharmacological modulation of CF-causing mutations, in order to understand pathogenesis and therapeutic responses.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-05-13
      DOI: 10.3390/jpm10020040
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 41: Wise Management of Ovarian Cancer: On the Cutting
           Edge

    • Authors: Stergios Boussios, Christos Mikropoulos, Eleftherios Samartzis, Peeter Karihtala, Michele Moschetta, Matin Sheriff, Afroditi Karathanasi, Agne Sadauskaite, Elie Rassy, Nicholas Pavlidis
      First page: 41
      Abstract: Epithelial ovarian cancer (EOC) is the fifth leading cause of cancer mortality among women. Two-thirds of patients present at advanced stage at diagnosis, and the estimated 5 year survival rate is 20–40%. This heterogeneous group of malignancies has distinguishable etiology and molecular biology. Initially, single-gene sequencing was performed to identify germline DNA variations associated with EOC. However, hereditary EOC syndrome can be explained by germline pathogenic variants (gPVs) in several genes. In this regard, next-generation sequencing (NGS) changed clinical diagnostic testing, allowing assessment of multiple genes simultaneously in a faster and cheaper manner than sequential single gene analysis. As we move into the era of personalized medicine, there is evidence that poly (ADP-ribose) polymerase (PARP) inhibitors exploit homologous recombination (HR) deficiency, especially in breast cancer gene 1 and 2 (BRCA1/2) mutation carriers. Furthermore, extensive preclinical data supported the development of aurora kinase (AURK) inhibitors in specific tumor types, including EOC. Their efficacy may be optimized in combination with chemotherapeutic or other molecular agents. The efficacy of metformin in ovarian cancer prevention is under investigation. Certain mutations, such as ARID1A mutations, and alterations in the phosphatidylinositol 3-kinase (PI3K)/AKT/mTOR pathway, which are specific in ovarian clear cell carcinoma (OCCC) and endometrioid ovarian carcinoma (EnOC), may offer additional therapeutic targets in these clinical entities. Malignant ovarian germ cell tumors (MOGCTs) are rare and randomized trials are extremely challenging for the improvement of the existing management and development of novel strategies. This review attempts to offer an overview of the main aspects of ovarian cancer, catapulted from the molecular mechanisms to therapeutic considerations.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-05-21
      DOI: 10.3390/jpm10020041
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 42: Obesity and Diabetes Mediated Chronic
           Inflammation: A Potential Biomarker in Alzheimer’s Disease

    • Authors: Md Shahjalal Hossain Khan, Vijay Hegde
      First page: 42
      Abstract: Alzheimer’s disease (AD) is the sixth leading cause of death and is correlated with obesity, which is the second leading cause of preventable diseases in the United States. Obesity, diabetes, and AD share several common features, and inflammation emerges as the central link. High-calorie intake, elevated free fatty acids, and impaired endocrine function leads to insulin resistance and systemic inflammation. Systemic inflammation triggers neuro-inflammation, which eventually hinders the metabolic and regulatory function of the brain mitochondria leading to neuronal damage and subsequent AD-related cognitive decline. As an early event in the pathogenesis of AD, chronic inflammation could be considered as a potential biomarker in the treatment strategies for AD.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-05-22
      DOI: 10.3390/jpm10020042
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 43: Targeted Nutritional Intervention for Patients
           with Mild Cognitive Impairment: The Cognitive impAiRmEnt Study (CARES)
           Trial 1

    • Authors: Rebecca Power, John M. Nolan, Alfonso Prado-Cabrero, Robert Coen, Warren Roche, Tommy Power, Alan N. Howard, Ríona Mulcahy
      First page: 43
      Abstract: Omega-3 fatty acids (ω-3FAs), carotenoids, and vitamin E are important constituents of a healthy diet. While they are present in brain tissue, studies have shown that these key nutrients are depleted in individuals with mild cognitive impairment (MCI) in comparison to cognitively healthy individuals. Therefore, it is likely that these individuals will benefit from targeted nutritional intervention, given that poor nutrition is one of the many modifiable risk factors for MCI. Evidence to date suggests that these nutritional compounds can work independently to optimize the neurocognitive environment, primarily due to their antioxidant and anti-inflammatory properties. To date, however, no interventional studies have examined the potential synergistic effects of a combination of ω-3FAs, carotenoids and vitamin E on the cognitive function of patients with MCI. Individuals with clinically confirmed MCI consumed an ω-3FA plus carotenoid plus vitamin E formulation or placebo for 12 months. Cognitive performance was determined from tasks that assessed global cognition and episodic memory. Ω-3FAs, carotenoids, and vitamin E were measured in blood. Carotenoid concentrations were also measured in tissue (skin and retina). Individuals consuming the active intervention (n = 6; median [IQR] age 73.5 [69.5–80.5] years; 50% female) exhibited statistically significant improvements (p < 0.05, for all) in tissue carotenoid concentrations, and carotenoid and ω-3FA concentrations in blood. Trends in improvements in episodic memory and global cognition were also observed in this group. In contrast, the placebo group (n = 7; median [IQR] 72 (69.5–75.5) years; 89% female) remained unchanged or worsened for all measurements (p > 0.05). Despite a small sample size, this exploratory study is the first of its kind to identify trends in improved cognitive performance in individuals with MCI following supplementation with ω-3FAs, carotenoids, and vitamin E.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-05-25
      DOI: 10.3390/jpm10020043
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 44: Bruxism Throughout the Lifespan and Variants in
           MMP2, MMP9 and COMT

    • Authors: Alexandre R. Vieira, Rafaela Scariot, Jennifer T. Gerber, Juliana Arid, Erika C. Küchler, Aline M. Sebastiani, Marcelo Palinkas, Kranya V. Díaz-Serrano, Carolina P. Torres, Simone C.H. Regalo, Paulo Nelson-Filho, Diego G. Bussaneli, Kathleen Deeley, Adriana Modesto
      First page: 44
      Abstract: Bruxism is a masticatory muscle activity characterized by grinding of the teeth and clenching of the jaw that causes tooth wear and breakage, temporomandibular joint disorders, muscle pain, and headache. Bruxism occurs in both adults and children. Clinical characteristics and habits were evaluated in an adult sample. Moreover, we used DNA samples from 349 adults and 151 children to determine the presence of association with specific genes. Genomic DNA was obtained from saliva. The markers rs2241145 and rs243832 (metalloproteinase 2 (MMP2)), rs13925 and rs2236416 (metalloproteinase 9 (MMP9)), and rs6269 (cathecol-o-methyltransferase (COMT)) were genotyped. Data were submitted to statistical analysis with a significance level of 0.05. In adults, in univariate logistic regression, presence of caries, attrition, and use of alcohol were increased in bruxism individuals (p < 0.05). In addition, in adults, there was an association between bruxism and MMP9 (rs13925, p = 0.0001) and bruxism and COMT (rs6269, p = 0.003). In children, a borderline association was observed for MMP9 (rs2236416, p = 0.08). When we performed multivariate logistic regression analyses in adults, the same clinical characteristics remained associated with bruxism, and orthodontic treatment was also associated, besides rs13925, in the AG genotype (p = 0.015, ORa: 3.40 (1.27–9.07)). For the first time, we provide statistical evidence that these genes are associate with bruxism.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-05-27
      DOI: 10.3390/jpm10020044
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 45: Influence of ApoE Genotype and Clock T3111C
           Interaction with Cardiovascular Risk Factors on the Progression to
           Alzheimer’s Disease in Subjective Cognitive Decline and Mild Cognitive
           Impairment Patients

    • Authors: Valentina Bessi, Juri Balestrini, Silvia Bagnoli, Salvatore Mazzeo, Giulia Giacomucci, Sonia Padiglioni, Irene Piaceri, Marco Carraro, Camilla Ferrari, Laura Bracco, Sandro Sorbi, Benedetta Nacmias
      First page: 45
      Abstract: Background: Some genes could interact with cardiovascular risk factors in the development of Alzheimer’s disease. We aimed to evaluate the interaction between ApoE ε4 status, Clock T3111C and Per2 C111G polymorphisms with cardiovascular profile in Subjective Cognitive Decline (SCD) and Mild Cognitive Impairment (MCI). Methods: We included 68 patients who underwent clinical evaluation; neuropsychological assessment; ApoE, Clock and Per2 genotyping at baseline; and neuropsychological follow-up every 12–24 months for a mean of 13 years. We considered subjects who developed AD and non-converters. Results: Clock T3111C was detected in 47% of cases, Per2 C111G in 19% of cases. ApoE ε4 carriers presented higher risk of heart disease; Clock C-carriers were more frequently smokers than non C-carriers. During the follow-up, 17 patients progressed to AD. Age at baseline, ApoE ε 4 and dyslipidemia increased the risk of conversion to AD. ApoE ε4 carriers with history of dyslipidemia showed higher risk to convert to AD compared to ApoE ε4− groups and ApoE ε4+ without dyslipidemia patients. Clock C-carriers with history of blood hypertension had a higher risk of conversion to AD. Conclusions: ApoE and Clock T3111C seem to interact with cardiovascular risk factors in SCD and MCI patients influencing the progression to AD.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-05-29
      DOI: 10.3390/jpm10020045
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 46: Equilibrium CT Texture Analysis for the Evaluation
           of Hepatic Fibrosis: Preliminary Evaluation against Histopathology and
           Extracellular Volume Fraction

    • Authors: Jason Yeung, Balaji Ganeshan, Raymond Endozo, Andrew Hall, Simon Wan, Ashley Groves, Stuart A. Taylor, Steve Bandula
      First page: 46
      Abstract: Background: Evaluate equilibrium contrast-enhanced CT (EQ-CT) texture analysis (EQ-CTTA) against histologically-quantified fibrosis, serum-based enhanced liver fibrosis panel (ELF) and imaging-based extracellular volume fraction (ECV) in chronic hepatitis. Methods: This study was a re-analysis of image data from a previous prospective study. Pre- and equilibrium-phase post-IV contrast CT datasets were collected from patients with chronic hepatitis with contemporaneous liver biopsy and serum ELF measurement between April 2011 and July 2013. Biopsy samples were analysed to derive collagen proportionate area (CPA). EQ-CTTA was performed with a filtration histogram technique using texture analysis software, with texture quantification using statistical and histogram-based metrics (mean, skewness, standard deviation, entropy, etc.). Association between pre-contrast and EQ-CTTA against CPA, ECV and ELF was evaluated using Spearman’s rank correlation coefficient (rs). Results: Complete datasets collected in 29 patients (16 male; 13 female), mean age (range): 49 (22–66 years). Liver ECV, CPA and ELF had a median (interquartile range) of 0.26 (0.24–0.29); 5.0 (3.0–13.7) and 9.71 (8.39–10.92). Difference in segment VII hepatic CTTA (medium texture scale) between EQ-CT and pre-contrast images was significantly and positively associated with ELF score (mean: rs = 0.69, p < 0.001; skewness: rs = 0.57, p = 0.007). Significant negative associations were observed between pre-contrast and EQ-CT whole hepatic CTTA (coarse texture scale) with CPA (pre-contrast, SD: rs = −0.66, p < 0.001) and ECV (EQ-CT, entropy: rs = −0.58, p = 0.006). Conclusions: Hepatic EQ-CTTA demonstrates significant association with validated markers of liver fibrosis, suggesting a role in non-invasive quantification of severity in diffuse fibrosis.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-05-29
      DOI: 10.3390/jpm10020046
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 47: Failure of Achieving Tacrolimus Target Blood
           Concentration Might Be Avoided by a Wide Genotyping of Transplanted
           Patients: Evidence from a Retrospective Study

    • Authors: Giovanni Pallio, Natasha Irrera, Alessandra Bitto, Federica Mannino, Letteria Minutoli, Michelangelo Rottura, Socrate Pallio, Domenica Altavilla, Angela Alibrandi, Maria Concetta Marciano, Maria Righi, Carmen Mannucci, Vincenzo Arcoraci, Francesco Squadrito
      First page: 47
      Abstract: Precise tacrolimus treatment in transplanted patients is achieved in the clinical setting by performing therapeutic drug monitoring (TDM) and consequently adjusting therapy. The aim of this study was to retrospectively analyze the variability in tacrolimus blood levels throughout 2 years of observation in 75 transplanted patients and to investigate if tacrolimus blood levels correlate with presence of genetic polymorphisms, thus modifying tacrolimus pharmacokinetics. CYP3A5*1 (G6986A), CYP3A4*1B (A392G), CYP3A4*22, ABCB1 (C3435T; C1236T; G2677A/T), SLCO1B1 (T521C), polymorphisms were analyzed. Based on the effect of their genotypes, patients were stratified into 5 groups: (1) reduced tacrolimus metabolism (RM), (2) increased metabolism (IM), (3) transporters polymorphisms (TM), (4) metabolism and transporter polymorphisms (AM) and (5) no mutations (Wild Type, WT). The percentage of the samples out of therapeutic range was significantly higher in the IM group than in the WT group (p = 0.001), as well as compared to the TM group (p = 0.004). Only IM pattern (p = 0.015) resulted as an independent predictor of number of tacrolimus blood levels out of therapeutic range. RM pattern (p = 0.006) was inversely related to the administered dose. Therefore, genotyping could become a standard practice before tacrolimus prescription thus decreasing side effects, increasing efficacy and reducing the economic burden for the national health system.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-06-01
      DOI: 10.3390/jpm10020047
      Issue No: Vol. 10, No. 2 (2020)
       
  • JPM, Vol. 10, Pages 1: Acknowledgement to Reviewers of JPM in 2019

    • Authors: JPM Editorial Office JPM Editorial Office
      First page: 1
      Abstract: Rigorous peer-review is the corner-stone of high-quality academic publishing [...]
      Citation: Journal of Personalized Medicine
      PubDate: 2020-01-04
      DOI: 10.3390/jpm10010001
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 2: Genetic Polymorphisms of Pharmacogenes among the
           Genetically Isolated Circassian Subpopulation from Jordan

    • Authors: Laith N. AL-Eitan, Doaa M. Rababa’h, Nancy M. Hakooz, Mansour A. Alghamdi, Rana B. Dajani
      First page: 2
      Abstract: Several genetic variants have been identified that cause variation among different populations and even within individuals of a similar descent. This leads to interindividual variations in the optimal dose of the drug that is required to sustain the treatment efficiency. In this study, 56 single nucleotide polymorphisms (SNPs) within several pharmacogenes were analyzed in 128 unrelated subjects from a genetically isolated group of Circassian people living in Jordan. We also compared these variant distributions to other ethnic groups that are available at two databases (Genome 1000 and eXAC). Our results revealed that the distribution of allele frequencies within genes among Circassians in Jordan showed similarities and disparities when compared to other populations. This study provides a powerful base for clinically relevant SNPs to enhance medical research and future pharmacogenomic studies. Rare variants detected in isolated populations can significantly guide to novel loci involved in the development of clinically relevant traits.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-01-06
      DOI: 10.3390/jpm10010002
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 3: Drug Use in Denmark for Drugs Having
           Pharmacogenomics (PGx) Based Dosing Guidelines from CPIC or DPWG for
           CYP2D6 and CYP2C19 Drug–Gene Pairs: Perspectives for Introducing PGx
           Test to Polypharmacy Patients

    • Authors: Westergaard, Søgaard Nielsen, Jørgensen, Vermehren
      First page: 3
      Abstract: Background: The cytochrome P450 drug metabolizing enzymes CYP2D6 and CYP2C19 are the major targets for pharmacogenomics (PGx) testing and determining for drug response. Clinical dosing guidelines for specific drug-gene interactions (DGI) are publicly available through PharmGKB. The aim of this register study was to map the use of drugs in Denmark for drugs having actionable dosing guidelines (AG) i.e., dosing recommendations different from standard dosing for CYP2D6 or CYP2C19 DGI in terms of consumption. Methods: The Danish Register of Medicinal Product Statistics was the source to retrieve consumption in Defined Daily Dose (DDD) i.e., the assumed average maintenance dose per day for a drug used for its main indication in adults and number of users (2017 data). Clinical dosing guidelines were available from the PharmGKB website. Results: Forty-nine drugs have guidelines corresponding to 14.5% of total sales in DDD. Twenty-eight drugs have AG corresponding to 375.2 million DDD. Pantoprazole, lansoprazole, omeprazole, clopidogrel, and metoprolol constituted fifty-eight percent of the consumption in DDD of drugs having AG. The consumption of antidepressant drugs, opioids, and antipsychotic drugs were 157.0 million DDD; with 441,850 users, 48.9 million DDD; with 427,765 users, and 23.7 million DDD; with 128,935 users, respectively. Age distributions of consumption of drugs and drug combinations, e.g., for sertraline redeemed either alone or in combination with metoprolol and tramadol, are presented. Conclusion: This exploratory register study clearly showed that a large fraction of the Danish population, especially the elderly, are exposed to drugs or drug combinations for which there exist AG related to PGx of CYP2D6 or CYP2C19.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-01-16
      DOI: 10.3390/jpm10010003
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 4: Identification and Characterization of BTD Gene
           Mutations in Jordanian Children with Biotinidase Deficiency

    • Authors: AL-Eitan, Alqa’qa’, Amayreh, Khasawneh, Aljamal, Al-Abed, Haddad, Rawashdeh, Jaradat, Haddad
      First page: 4
      Abstract: Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in seven unrelated Jordanian families including 10 patients and 17 healthy family members. Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. Biotinidase level was significantly lower (p < 0.001) in BTD children compare to their non-affected family members. Genetic sequencing revealed six different mutations in Jordanian patients. One mutation was novel and located in exon 4, which could be a prevalent mutation for biotinidase deficiency in the Jordanian population. Identification of these common mutations and combing the enzymatic activity with genotypic data will help clinicians with regard to better genetic counseling and management through implementing prevention programs in the future.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-01-21
      DOI: 10.3390/jpm10010004
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 5: Measuring the Microscopic Structures of Human
           Dental Enamel Can Predict Caries Experience

    • Authors: Ariana M. Kelly, Anna Kallistova, Erika C. Küchler, Helena F. Romanos, Andrea Lips, Marcelo C. Costa, Adriana Modesto, Alexandre R. Vieira
      First page: 5
      Abstract: Objectives: The hierarchical structure of enamel gives insight on the properties of enamel and can influence its strength and ultimately caries experience. Currently, past caries experience is quantified using the decayed, missing, filled teeth/decayed, missing, filled surface (DMFT/DMFS for permanent teeth; dmft/dmfs for primary teeth), or international caries detection and assessment system (ICDAS) scores. By analyzing the structure of enamel, a new measurement can be utilized clinically to predict susceptibility to future caries experience based on a patient’s individual’s biomarkers. The purpose of this study was to test the hypothesis that number of prisms by square millimeter in enamel and average gap distance between prisms and interprismatic areas, influence caries experience through genetic variation of the genes involved in enamel formation. Materials and Methods: Scanning electron microscopy (SEM) images of enamel from primary teeth were used to measure (i) number of prisms by square millimeter and interprismatic spaces, (ii) prism density, and (iii) gap distances between prisms in the enamel samples. The measurements were tested to explore a genetic association with variants of selected genes and correlations with caries experience based on the individual’s DMFT+ dmft score and enamel microhardness at baseline, after an artificial lesion was created and after the artificial lesion was treated with fluoride. Results: Associations were found between variants of genes including ameloblastin, amelogenin, enamelin, tuftelin, tuftelin interactive protein 11, beta defensin 1, matrix metallopeptidase 20 and enamel structure variables measured (number of prisms by square millimeter in enamel and average gap distance between prisms and interprismatic areas). Significant correlations were found between caries experience and microhardness and enamel structure. Negative correlations were found between number of prisms by square millimeter and high caries experience (r value= −0.71), gap distance between prisms and the enamel microhardness after an artificial lesion was created (r value= −0.70), and gap distance between prisms and the enamel microhardness after an artificial lesion was created and then treated with fluoride (r value= −0.81). There was a positive correlation between number of prisms by square millimeter and prism density of the enamel (r value = 0.82). Conclusions: Our data support that genetic variation may impact enamel formation, and therefore influence susceptibility to dental caries and future caries experience. Clinical Relevance: The evaluation of enamel structure that may impact caries experience allows for hypothesizing that the identification of individuals at higher risk for dental caries and implementation of personalized preventative treatments may one day become a reality.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-02-02
      DOI: 10.3390/jpm10010005
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 6: Experimental Biointegration of a Titanium Implant
           in Delayed Mandibular Reconstruction

    • Authors: Alexander Dolgolev, Igor Reshetov, Dmitry Svyatoslavov, Mikhail Sinelnikov, Konstantin Kudrin, Vladimir Dub, Vladimir Put, Vladimir Anikin
      First page: 6
      Abstract: Background: Mandibular reconstruction, after extensive resection of the mandible for the treatment of oral cancer, is a well-known procedure, however, relatively little is known about bone integration into the titanium implant after reconstruction with a temporary plastic implant. The main goal of this experimental study was to study the process of osseous integration into the titanium implant in an in vivo experiment following prior mandibular reconstruction with a temporary plastic implant. Materials and Methods: Four ewes initially underwent a partial one-sided resection of the mandible, with the formation of an approximately 3 × 1 cm defect. All of the subjects received reconstruction with an implantation of a plastic plate (3 cm). The plastic plate was removed and replaced by a titanium implant at 1, 3, 6, and 12 months, accordingly. Both plastic and titanium implants were made via 3D-printing technology and personalized modeling. A total of 6 months after titanium implantation, a histological evaluation of biointegration was performed. Results: All surgeries were uncomplicated. The integration of osseous tissue into the titanium implant was seen in all cases. Histologically, each case showed variable integration of dense fibrotic tissue with fibroblasts and non-mature bone tissue with a definitive layer of bone matrix with many osteoblasts on the periphery. The prior implantation of the plastic plate did not interfere with bone integration into the titanium implant. Conclusion: Preliminary results demonstrated that a temporary plastic implant for mandibular reconstruction does not interfere with the consequent osseous biointegration of a permanent titanium implant. This shows that temporary reconstruction is a safe solution when delayed mandibular reconstruction is required due to disease severity.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-02-03
      DOI: 10.3390/jpm10010006
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 7: Healthcare Utilization and Costs after Receiving a
           Positive BRCA1/2 Result from a Genomic Screening Program

    • Authors: Jing Hao, Dina Hassen, Kandamurugu Manickam, Michael F. Murray, Dustin N. Hartzel, Yirui Hu, Kunpeng Liu, Alanna Kulchak Rahm, Marc S. Williams, Amanda Lazzeri, Adam Buchanan, Amy Sturm, Susan R. Snyder
      First page: 7
      Abstract: Population genomic screening has been demonstrated to detect at-risk individuals who would not be clinically identified otherwise. However, there are concerns about the increased utilization of unnecessary services and the associated increase in costs. The objectives of this study are twofold: (1) determine whether there is a difference in healthcare utilization and costs following disclosure of a pathogenic/likely pathogenic (P/LP) BRCA1/2 variant via a genomic screening program, and (2) measure the post-disclosure uptake of National Comprehensive Cancer Network (NCCN) guideline-recommended risk management. We retrospectively reviewed electronic health record (EHR) and billing data from a female population of BRCA1/2 P/LP variant carriers without a personal history of breast or ovarian cancer enrolled in Geisinger’s MyCode genomic screening program with at least a one-year post-disclosure observation period. We identified 59 women for the study cohort out of 50,726 MyCode participants. We found no statistically significant differences in inpatient and outpatient utilization and average total costs between one-year pre- and one-year post-disclosure periods ($18,821 vs. $19,359, p = 0.76). During the first year post-disclosure, 49.2% of women had a genetic counseling visit, 45.8% had a mammography and 32.2% had an MRI. The uptake of mastectomy and oophorectomy was 3.5% and 11.8%, respectively, and 5% of patients received chemoprevention.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-02-03
      DOI: 10.3390/jpm10010007
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 8: Harnessing the Potential of Stem Cells for Disease
           Modeling: Progress and Promises

    • Authors: Chiara Argentati, Ilaria Tortorella, Martina Bazzucchi, Francesco Morena, Sabata Martino
      First page: 8
      Abstract: Ex vivo cell/tissue-based models are an essential step in the workflow of pathophysiology studies, assay development, disease modeling, drug discovery, and development of personalized therapeutic strategies. For these purposes, both scientific and pharmaceutical research have adopted ex vivo stem cell models because of their better predictive power. As matter of a fact, the advancing in isolation and in vitro expansion protocols for culturing autologous human stem cells, and the standardization of methods for generating patient-derived induced pluripotent stem cells has made feasible to generate and investigate human cellular disease models with even greater speed and efficiency. Furthermore, the potential of stem cells on generating more complex systems, such as scaffold-cell models, organoids, or organ-on-a-chip, allowed to overcome the limitations of the two-dimensional culture systems as well as to better mimic tissues structures and functions. Finally, the advent of genome-editing/gene therapy technologies had a great impact on the generation of more proficient stem cell-disease models and on establishing an effective therapeutic treatment. In this review, we discuss important breakthroughs of stem cell-based models highlighting current directions, advantages, and limitations and point out the need to combine experimental biology with computational tools able to describe complex biological systems and deliver results or predictions in the context of personalized medicine.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-02-06
      DOI: 10.3390/jpm10010008
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 9: “Balancing Expectations with Actual Realities”:
           Conversations with Clinicians and Scientists in the First Year of a
           High-Risk Childhood Cancer Precision Medicine Trial

    • Authors: McGill, Wakefield, Hetherington, Munro, Warby, Lau, Tyrrell, Ziegler, O’Brien, Marshall, Malkin, Hansford, Tucker, Vetsch
      First page: 9
      Abstract: Precision medicine is changing cancer care and placing new demands on oncology professionals. Precision medicine trials for high-risk childhood cancer exemplify these complexities. We assessed clinicians’ (n = 39) and scientists’ (n = 15) experiences in the first year of the PRecISion Medicine for Children with Cancer (PRISM) trial for children and adolescents with high-risk cancers, through an in-depth semi-structured interview. We thematically analysed participants’ responses regarding their professional challenges, and measured oncologists’ knowledge of genetics and confidence with somatic and germline molecular test results. Both groups described positive early experiences with PRISM but were cognisant of managing parents’ expectations. Key challenges for clinicians included understanding and communicating genomic results, balancing biopsy risks, and drug access. Most oncologists rated ‘good’ knowledge of genetics, but a minority were ‘very confident’ in interpreting (25%), explaining (34.4%) and making treatment recommendations (18.8%) based on somatic genetic test results. Challenges for scientists included greater emotional impact of their work and balancing translational outputs with academic productivity. Continued tracking of these challenges across the course of the trial, while assessing the perspectives of a wider range of stakeholders, is critical to drive the ongoing development of a workforce equipped to manage the demands of paediatric precision medicine.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-02-14
      DOI: 10.3390/jpm10010009
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 10: HER2 Heterogeneity in Personalized Therapy of
           Gastro-Oesophageal Malignancies: An Overview by Different Methodologies

    • Authors: Antonio Ieni, Roberta Cardia, Cristina Pizzimenti, Pio Zeppa, Giovanni Tuccari
      First page: 10
      Abstract: Human epidermal growth factor receptor-2 (HER2)-expression gastro-oesophageal adenocarcinomas (GEA) gained interest as an important target for therapy with trastuzumab. In the current review, we focused the current knowledge on HER2 status in dysplastic and neoplastic gastric conditions, analyzing the methodological procedures to identify HER2 expression/amplification, as well as the proposed scoring recommendations. One of the most relevant questions to evaluate the useful impact of HER2 status on therapeutic choice in GEAs is represented by the significant heterogeneity of HER2 protein and gene expression that may affect the targeted treatment selection. Future development of biotechnology will continue to evolve in order to offer more powerful detection systems for the assessment of HER2 status. Finally, liquid biopsy as well as mutation/amplification of several additional genes may furnish an early detection of secondary HER2 resistance mechanisms in GEAs with a better monitoring of the treatment response.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-02-21
      DOI: 10.3390/jpm10010010
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 11: A Research on the Classification and Applicability
           of the Mobile Health Applications

    • Authors: Ivan Miguel Pires, Gonçalo Marques, Nuno M. Garcia, Francisco Flórez-Revuelta, Vasco Ponciano, Salome Oniani
      First page: 11
      Abstract: Mobile health applications are applied for different purposes. Healthcare professionals and other users can use this type of mobile applications for specific tasks, such as diagnosis, information, prevention, treatment, and communication. This paper presents an analysis of mobile health applications used by healthcare professionals and their patients. A secondary objective of this article is to evaluate the scientific validation of these mobile health applications and to verify if the results provided by these applications have an underlying sound scientific foundation. This study also analyzed literature references and the use of mobile health applications available in online application stores. In general, a large part of these mobile health applications provides information about scientific validation. However, some mobile health applications are not validated. Therefore, the main contribution of this paper is to provide a comprehensive analysis of the usability and user-perceived quality of mobile health applications and the challenges related to scientific validation of these mobile applications.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-02-27
      DOI: 10.3390/jpm10010011
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 12: Promotion of Healthy Nutrition and Physical
           Activity Lifestyles for Teenagers: A Systematic Literature Review of The
           Current Methodologies

    • Authors: María Vanessa Villasana, Ivan Miguel Pires, Juliana Sá, Nuno M. Garcia, Eftim Zdravevski, Ivan Chorbev, Petre Lameski, Francisco Flórez-Revuelta
      First page: 12
      Abstract: Amid obesity problems in the young population and apparent trends of spending a significant amount of time in a stationary position, promoting healthy nutrition and physical activities to teenagers is becoming increasingly important. It can rely on different methodologies, including a paper diary and mobile applications. However, the widespread use of mobile applications by teenagers suggests that they could be a more suitable tool for this purpose. This paper reviews the methodologies for promoting physical activities to healthy teenagers explored in different studies, excluding the analysis of different diseases. We found only nine studies working with teenagers and mobile applications to promote active lifestyles, including the focus on nutrition and physical activity. Studies report using different techniques to captivate the teenagers, including questionnaires and gamification techniques. We identified the common features used in different studies, which are: paper diary, diet diary, exercise diary, notifications, diet plan, physical activity registration, gamification, smoking cessation, pictures, game, and SMS, among others.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-03-01
      DOI: 10.3390/jpm10010012
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 13: What Results Should Be Returned from Opportunistic
           Screening in Translational Research'

    • Authors: Colin ME Halverson, Sarah H Jones, Laurie Novak, Christopher Simpson, Digna R Velez Edwards, Sifang Kathy Zhao, Ellen W Clayton
      First page: 13
      Abstract: Increasingly, patients without clinical indications are undergoing genomic tests. The purpose of this study was to assess their appreciation and comprehension of their test results and their clinicians’ reactions. We conducted 675 surveys with participants from the Vanderbilt Electronic Medical Records and Genomics (eMERGE) cohort. We interviewed 36 participants: 19 had received positive results, and 17 were self-identified racial minorities. Eleven clinicians who had patients who had participated in eMERGE were interviewed. A further 21 of these clinicians completed surveys. Participants spontaneously admitted to understanding little or none of the information returned to them from the eMERGE study. However, they simultaneously said that they generally found testing to be “helpful,” even when it did not inform their health care. Primary care physicians expressed discomfort in being asked to interpret the results for their patients and described it as an undue burden. Providing genetic testing to otherwise healthy patients raises a number of ethical issues that warrant serious consideration. Although our participants were enthusiastic about enrolling and receiving their results, they express a limited understanding of what the results mean for their health care. This fact, coupled the clinicians’ concern, urges greater caution when educating and enrolling participants in clinically non-indicated testing.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-03-01
      DOI: 10.3390/jpm10010013
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 14: Virtual Reality Treatment for Public Speaking
           Anxiety in Students. Advancements and Results in Personalized Medicine

    • Authors: Francisco-Javier Hinojo-Lucena, Inmaculada Aznar-Díaz, María-Pilar Cáceres-Reche, Juan-Manuel Trujillo-Torres, José-María Romero-Rodríguez
      First page: 14
      Abstract: Public speaking anxiety (PSA) is a common phobia in the student population. Traditionally, exposure therapy has been used as a treatment. However, the use of virtual reality (VR) is increasingly common to treat PSA. The purpose of this paper was to analyze the published scientific literature on VR as a treatment for PSA in students. The articles indexed in two databases (Web of Science and Scopus) were analyzed, with a time period from the beginning of the first publications until 2019 included. The systematic literature review was based on fixed inclusion and exclusion criteria. A total of 13 studies were identified which included 481 students. The results collected indicate that the duration of treatments to have positive effects was at least one week, where the number of sessions was between one and twelve. Furthermore, most VR treatments reported positive effects. Finally, this study showed evidence that VR treatment for PSA is effective while being less invasive than in vivo exposure.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-03-01
      DOI: 10.3390/jpm10010014
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 15: From Medical Imaging to Radiomics: Role of Data
           Science for Advancing Precision Health

    • Authors: Enrico Capobianco, Marco Dominietto
      First page: 15
      Abstract: Treating disease according to precision health requires the individualization of therapeutic solutions as a cardinal step that is part of a process that typically depends on multiple factors. The starting point is the collection and assembly of data over time to assess the patient’s health status and monitor response to therapy. Radiomics is a very important component of this process. Its main goal is implementing a protocol to quantify the image informative contents by first mining and then extracting the most representative features. Further analysis aims to detect potential disease phenotypes through signs and marks of heterogeneity. As multimodal images hinge on various data sources, and these can be integrated with treatment plans and follow-up information, radiomics is naturally centered on dynamically monitoring disease progression and/or the health trajectory of patients. However, radiomics creates critical needs too. A concise list includes: (a) successful harmonization of intra/inter-modality radiomic measurements to facilitate the association with other data domains (genetic, clinical, lifestyle aspects, etc.); (b) ability of data science to revise model strategies and analytics tools to tackle multiple data types and structures (electronic medical records, personal histories, hospitalization data, genomic from various specimens, imaging, etc.) and to offer data-agnostic solutions for patient outcomes prediction; (c) and model validation with independent datasets to ensure generalization of results, clinical value of new risk stratifications, and support to clinical decisions for highly individualized patient management.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-03-02
      DOI: 10.3390/jpm10010015
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 16: A Feasibility Study of an Extrusion-Based
           Fabrication Process for Personalized Drugs

    • Authors: Yu, Chen
      First page: 16
      Abstract: Developing a high-efficiency manufacturing system for personalized medicine plays an important role in increasing the feasibility of personalized medication. The purpose of this study is to investigate the feasibility of a new extrusion-based fabrication process for personalized drugs with a faster production rate. This process uses two syringe pumps with a coaxial needle as an extruder, which extrudes two materials with varying ratios into a capsule. The mixture of hydrogel, polyethylene glycol (PEG), hydroxypropyl methylcellulose, poly acrylic acid and the simulated active pharmaceutical ingredient, Aspirin, was used. To validate the method, samples with different ratios of immediate release (IR) and sustained release (SR) mixtures were fabricated. The results of a dissolution test show that it is feasible to control the release profile by changing the IR and SR ratio using this fabrication setup. The fabrication time for each capsule is about 20 seconds, which is significantly faster than the current 3D printing methods. In conclusion, the proposed fabrication method shows a clear potential to step toward the feasibility of personalized medication.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-03-04
      DOI: 10.3390/jpm10010016
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 17: Withings Body Cardio versus Gold Standards of
           Pulse-Wave Velocity and Body Composition

    • Authors: Scott R Collier, Conner McCraw, Megan Campany, Austin Lubkeman, Price StClair, Hong Ji, Kathryn Sandberg, Joseph W. Morgan, Caroline J Smith
      First page: 17
      Abstract: Home blood pressure monitors are widely used by consumers yet cardiovascular health may be better defined by pulse-wave velocity (PWV). So far, the Withings Body Cardio scale is the only consumer device that has been designed to measure PWV and body composition, including fat mass (FM) and fat-free mass (FFM), in the home setting. While one study has demonstrated that this device meets the acceptable accuracy standards of the ARTERY Society, no study has accounted for the gravitational effect of standing on a scale on aortic-leg PWV. Purpose: The purpose of this study was to assess the accuracy of PWV and body composition as determined by the Body Cardio scale. Methods: Measurements of PWV and body composition in healthy, young males and females (n = 20) using the Body Cardio device were compared to PWV assessed by applanation tonometry (SphygmoCor) and body composition analysis determined by air displacement plethysmography (Bod Pod). Bland–Altman analysis and mean absolute percent error (MAPE) were used to assess accuracy. Results: Data are reported as the mean bias (95% confidence interval). The Body Cardio overestimated PWV by 0.68 m/s (−0.16, 1.51) and FM by 2.91 kg (−2.91, 8.73). Body Cardio PWV and FM estimations had a MAPE of 9.7% and 25.8%, respectively. The Body Cardio underestimated body mass (BM) and FFM by 0.11 kg (−0.41, 0.18) and 2.87 kg (−9.04, 3.30), respectively. Body Cardio BM and FFM estimations had a MAPE of 0.15% and 5.6%, respectively. Conclusions: The Body Cardio scale provides accurate measures of BM and PWV; however, it should be used cautiously for measures of FM and FFM.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-03-11
      DOI: 10.3390/jpm10010017
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 18: Dysmorphology in the Era of Genomic Diagnosis

    • Authors: Hurst, Robin
      First page: 18
      Abstract: Genetic and genomic testing technologies have expanded beyond levels of diagnostic capability that were unimaginable even a few years ago. While this has significantly benefited clinicians in their care of patients and families, it has also altered how geneticists evaluate patients. One immediate example is the role of the dysmorphologic physical exam in the patient evaluation. While some have suggested that it is no longer necessary, we argue that the dysmorphologic physical exam is still essential, albeit in a different role.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-03-17
      DOI: 10.3390/jpm10010018
      Issue No: Vol. 10, No. 1 (2020)
       
  • JPM, Vol. 10, Pages 19: Utilization of Hydroxyl-Methyl Butyrate, Leucine,
           Glutamine and Arginine Supplementation in Nutritional Management of
           Sarcopenia—Implications and Clinical Considerations for Type 2 Diabetes
           Mellitus Risk Modulation

    • Authors: Adeline Maykish, Angelos K. Sikalidis
      First page: 19
      Abstract: While onset characteristics may vary, sarcopenia gradually develops over time as a result of the aging process, leading to muscle loss, disturbance of the muscle to fat ratio, and a variety of negative symptoms undermining the wellbeing, quality of life, and lifespan in the aging population globally. There is evidence that sarcopenia may be a cause and consequence of type 2 diabetes mellitus (T2DM) in the aging population. The importance of nutritional management in the prevention and/or deceleration of sarcopenia is critical, with the main focus placed on the amount and quality of protein intake. Significant efforts are being made towards the development of medical nutrition therapies involving certain amino acids and amino compounds, as well as their combinations, for the improvement in muscle strength, muscle function and protein synthesis. This may reduce hospitalization times and hasten the recovery of patients with sarcopenia. The administration of protocols with varying dose and frequencies, as well as their efficacy, is being investigated. In the work herein, we present and evaluate data derived from human trials regarding the utilization of hydroxyl-methyl butyrate (HMB), L-leucine (Leu), L-glutamine (Gln) and L-arginine (Arg) supplementation for optimal management of sarcopenia in geriatric patients, a topic of significant clinical nutrition interest which may have important implications in T2DM status.
      Citation: Journal of Personalized Medicine
      PubDate: 2020-03-24
      DOI: 10.3390/jpm10010019
      Issue No: Vol. 10, No. 1 (2020)
       
 
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