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Journal of Personalized Medicine, Volume 10, Issue 2

2020 June - 35 articles

Cover Story: Informing providers and patients about genetic tests results is becoming increasingly important as genomic medicine expands into all areas of medicine. As there are no standards for return of results (RoR), we examined the planned processes for returning actionable variants in 109 genes and SNVs to consenting participants and providers across 10 sites in the electronic Medical Record and Genomics (eMERGE) network. Marked heterogeneity of RoR was identified, due to differences in population, disease focus, and institutional requirements. This article describes the “real world” of RoR in genomic medicine and provides foundational information for the development of common RoR protocols. View this paper
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Articles (35)

  • Review
  • Open Access
25 Citations
6,984 Views
12 Pages

Implementation of MALDI Mass Spectrometry Imaging in Cancer Proteomics Research: Applications and Challenges

  • Eline Berghmans,
  • Kurt Boonen,
  • Evelyne Maes,
  • Inge Mertens,
  • Patrick Pauwels and
  • Geert Baggerman

Studying the proteome–the entire set of proteins in cells, tissues, organs and body fluids—is of great relevance in cancer research, as differential forms of proteins are expressed in response to specific intrinsic and extrinsic signals....

  • Article
  • Open Access
11 Citations
4,955 Views
8 Pages

Background and Objective: Since the treatment outcome with oral anti-diabetics differs between individuals, the objective of this study is to evaluate the significance of rs622342 in SLC22A1, CYP2C9*2 (rs1799853) and CYP2C9*3 (rs1057910) with regard...

  • Article
  • Open Access
3 Citations
4,225 Views
10 Pages

In thyroid neoplastic pathology, the BRAF V600E mutation is shown to be involved in the oncogenesis of papillary thyroid cancer and its subtypes. The purpose of this study is to evaluate the correlation between the mutation of the BRAF V600E oncogene...

  • Review
  • Open Access
4 Citations
5,713 Views
9 Pages

Recent progress in Omics technologies has started to empower personalized healthcare development at a thorough biomolecular level. Omics have subsidized medical breakthroughs that have started to enter clinical proceedings. The use of this scientific...

  • Article
  • Open Access
34 Citations
12,328 Views
10 Pages

Risk Factors Associated with Low Back Pain among A Group of 1510 Pregnant Women

  • Aleksandra Bryndal,
  • Marian Majchrzycki,
  • Agnieszka Grochulska,
  • Sebastian Glowinski and
  • Agnieszka Seremak-Mrozikiewicz

Background: Low Back Pain (LBP) is a frequent, very common, and costly health problem. LBP, which occurs during pregnancy, may become a lifelong problem. The aim of this study was to determine the risk factors associated with LBP in pregnant women. M...

  • Article
  • Open Access
14 Citations
4,665 Views
13 Pages

Nursing around the world is developing very dynamically and nurses are undertaking increasingly complex tasks. The extension of entitlements for nurses in Poland in the area of writing prescriptions and referrals for diagnostic tests seems to be a re...

  • Article
  • Open Access
4 Citations
10,088 Views
19 Pages

Several active principles from plants could trigger the release of stem cells from the bone marrow. Stem cell mobilizers have shown side effects in patients. Thus, the purpose of this paper is to find the natural products from plants (curcuminoids, g...

  • Article
  • Open Access
4 Citations
4,871 Views
11 Pages

Failure of Achieving Tacrolimus Target Blood Concentration Might Be Avoided by a Wide Genotyping of Transplanted Patients: Evidence from a Retrospective Study

  • Giovanni Pallio,
  • Natasha Irrera,
  • Alessandra Bitto,
  • Federica Mannino,
  • Letteria Minutoli,
  • Michelangelo Rottura,
  • Socrate Pallio,
  • Domenica Altavilla,
  • Angela Alibrandi and
  • Francesco Squadrito
  • + 4 authors

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 tacr...

  • Article
  • Open Access
21 Citations
4,945 Views
14 Pages

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

  • Valentina Bessi,
  • Juri Balestrini,
  • Silvia Bagnoli,
  • Salvatore Mazzeo,
  • Giulia Giacomucci,
  • Sonia Padiglioni,
  • Irene Piaceri,
  • Marco Carraro,
  • Camilla Ferrari and
  • Benedetta Nacmias
  • + 2 authors

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...

  • Article
  • Open Access
7 Citations
5,050 Views
13 Pages

Equilibrium CT Texture Analysis for the Evaluation of Hepatic Fibrosis: Preliminary Evaluation against Histopathology and Extracellular Volume Fraction

  • Jason Yeung,
  • Balaji Ganeshan,
  • Raymond Endozo,
  • Andrew Hall,
  • Simon Wan,
  • Ashley Groves,
  • Stuart A. Taylor and
  • Steve Bandula

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 hepa...

  • Article
  • Open Access
13 Citations
5,040 Views
8 Pages

Bruxism Throughout the Lifespan and Variants in MMP2, MMP9 and COMT

  • 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 and
  • Adriana Modesto
  • + 4 authors

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. Cl...

  • Feature Paper
  • Article
  • Open Access
24 Citations
8,619 Views
29 Pages

Targeted Nutritional Intervention for Patients with Mild Cognitive Impairment: The Cognitive impAiRmEnt Study (CARES) Trial 1

  • Rebecca Power,
  • John M. Nolan,
  • Alfonso Prado-Cabrero,
  • Robert Coen,
  • Warren Roche,
  • Tommy Power,
  • Alan N. Howard and
  • Ríona Mulcahy

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...

  • Review
  • Open Access
53 Citations
9,857 Views
20 Pages

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 inflammati...

  • Review
  • Open Access
61 Citations
9,268 Views
20 Pages

Wise Management of Ovarian Cancer: On the Cutting Edge

  • Stergios Boussios,
  • Christos Mikropoulos,
  • Eleftherios Samartzis,
  • Peeter Karihtala,
  • Michele Moschetta,
  • Matin Sheriff,
  • Afroditi Karathanasi,
  • Agne Sadauskaite,
  • Elie Rassy and
  • Nicholas Pavlidis

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 malignancie...

  • Feature Paper
  • Article
  • Open Access
15 Citations
7,098 Views
14 Pages

Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

  • John A. Lynch,
  • Richard R. Sharp,
  • Sharon A. Aufox,
  • Sarah T. Bland,
  • Carrie Blout,
  • Deborah J. Bowen,
  • Adam H. Buchanan,
  • Colin Halverson,
  • Margaret Harr and
  • Janet L. Williams
  • + 25 authors

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...

  • Article
  • Open Access
5 Citations
4,485 Views
7 Pages

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,...

  • Article
  • Open Access
27 Citations
6,414 Views
12 Pages

The CFTR Mutation c.3453G > C (D1152H) Confers an Anion Selectivity Defect in Primary Airway Tissue that Can be Rescued by Ivacaftor

  • Onofrio Laselva,
  • Theo J. Moraes,
  • Gengming He,
  • Claire Bartlett,
  • Ida Szàrics,
  • Hong Ouyang,
  • Tarini N. A. Gunawardena,
  • Lisa Strug,
  • Christine E. Bear and
  • Tanja Gonska

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...

  • Review
  • Open Access
58 Citations
12,483 Views
22 Pages

Future Trends in Nebulized Therapies for Pulmonary Disease

  • Sean D. McCarthy,
  • Héctor E. González and
  • Brendan D. Higgins

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...

  • Article
  • Open Access
7 Citations
5,814 Views
11 Pages

Comparison of the Hemodynamic Performance of Two Neuromuscular Electrical Stimulation Devices Applied to the Lower Limb

  • Sahar Avazzadeh,
  • Andrea O’Farrell,
  • Kate Flaherty,
  • Sandra O’Connell,
  • Gearóid ÓLaighin and
  • Leo R. Quinlan

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....

  • Editorial
  • Open Access
6 Citations
5,048 Views
4 Pages

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...

  • Article
  • Open Access
16 Citations
6,605 Views
9 Pages

30 April 2020

(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 Muscula...

  • Review
  • Open Access
44 Citations
9,370 Views
27 Pages

Neurophysiological Hallmarks of Neurodegenerative Cognitive Decline: The Study of Brain Connectivity as A Biomarker of Early Dementia

  • Paolo Maria Rossini,
  • Francesca Miraglia,
  • Francesca Alù,
  • Maria Cotelli,
  • Florinda Ferreri,
  • Riccardo Di Iorio,
  • Francesco Iodice and
  • Fabrizio Vecchio

30 April 2020

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 fun...

  • Article
  • Open Access
24 Citations
7,633 Views
16 Pages

Deficits in Mitochondrial Spare Respiratory Capacity Contribute to the Neuropsychological Changes of Alzheimer’s Disease

  • Simon M. Bell,
  • Matteo De Marco,
  • Katy Barnes,
  • Pamela J. Shaw,
  • Laura Ferraiuolo,
  • Daniel J. Blackburn,
  • Heather Mortiboys and
  • Annalena Venneri

29 April 2020

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. Th...

  • Article
  • Open Access
16 Citations
5,605 Views
12 Pages

28 April 2020

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...

  • Article
  • Open Access
40 Citations
8,161 Views
12 Pages

Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network

  • 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 and
  • Kathleen A. Leppig
  • + 22 authors

27 April 2020

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 1...

  • Feature Paper
  • Article
  • Open Access
8 Citations
6,066 Views
15 Pages

23 April 2020

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 p...

  • Article
  • Open Access
42 Citations
7,544 Views
14 Pages

Statistical Shape Analysis of Ascending Thoracic Aortic Aneurysm: Correlation between Shape and Biomechanical Descriptors

  • Federica Cosentino,
  • Giuseppe M Raffa,
  • Giovanni Gentile,
  • Valentina Agnese,
  • Diego Bellavia,
  • Michele Pilato and
  • Salvatore Pasta

22 April 2020

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...

  • Article
  • Open Access
22 Citations
10,941 Views
9 Pages

Opioid Induced Hyperalgesia, a Research Phenomenon or a Clinical Reality? Results of a Canadian Survey

  • Grisell Vargas-Schaffer,
  • Suzie Paquet,
  • Andrée Neron and
  • Jennifer Cogan

21 April 2020

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...

  • Review
  • Open Access
30 Citations
9,850 Views
14 Pages

19 April 2020

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 st...

  • Article
  • Open Access
7 Citations
5,097 Views
9 Pages

The Brain Metabolic Correlates of the Main Indices of Neuropsychological Assessment in Alzheimer’s Disease

  • Agostino Chiaravalloti,
  • Maria Ricci,
  • Daniele Di Biagio,
  • Luca Filippi,
  • Alessandro Martorana and
  • Orazio Schillaci

18 April 2020

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...

  • Article
  • Open Access
7 Citations
4,448 Views
13 Pages

17 April 2020

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 impa...

  • Review
  • Open Access
11 Citations
7,002 Views
14 Pages

A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia

  • Rachele M. Hendricks-Sturrup,
  • Jodi Clark-LoCascio and
  • Christine Y. Lu

14 April 2020

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 pr...

  • Feature Paper
  • Protocol
  • Open Access
8 Citations
5,159 Views
14 Pages

The “develOpment of metabolic and functional markers of Dementia IN Older people” (ODINO) Study: Rationale, Design and Methods

  • Anna Picca,
  • Daniela Ronconi,
  • Hélio J. Coelho-Junior,
  • Riccardo Calvani,
  • Federico Marini,
  • Alessandra Biancolillo,
  • Jacopo Gervasoni,
  • Aniello Primiano,
  • Cristina Pais and
  • Rosa Liperoti
  • + 6 authors

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 se...

  • Review
  • Open Access
311 Citations
27,166 Views
11 Pages

Applications of Machine Learning Predictive Models in the Chronic Disease Diagnosis

  • Gopi Battineni,
  • Getu Gamo Sagaro,
  • Nalini Chinatalapudi and
  • Francesco Amenta

31 March 2020

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...

  • Review
  • Open Access
27 Citations
8,932 Views
13 Pages

Flotillin: A Promising Biomarker for Alzheimer’s Disease

  • Efthalia Angelopoulou,
  • Yam Nath Paudel,
  • Mohd. Farooq Shaikh and
  • Christina Piperi

26 March 2020

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 diseas...

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J. Pers. Med. - ISSN 2075-4426