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Journal of Personalized Medicine, Volume 10, Issue 2

June 2020 - 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)

  • Article
  • Open Access
13 Citations
4,953 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
  • Simone C. H. Regalo
  • + 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
22 Citations
8,448 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
51 Citations
9,588 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
58 Citations
9,104 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
6,988 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
  • Scott J. Hebbring
  • + 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
4,401 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
6,205 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
55 Citations
11,827 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
5,568 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
4,969 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...

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J. Pers. Med. - ISSN 2075-4426