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Journal of Personalized Medicine, Volume 11, Issue 11

November 2021 - 193 articles

Cover Story: As pharmacogenomic evidence continues to evolve, maintaining up-to-date interpretations and implementing new clinical decision support (CDS) creates many challenges. We detail our experiences of the systematic reinterpretation of historic CYP2C19 and CYP2D6 genotypes, and share any lessons learned. Our aim was to update phenotypes to current the nomenclature, as well as launch CDS and patient-oriented content. In this study, we found that reinterpretation and reprocessing was an achievable task. The maintenance of up-to-date interpretations and recommendations for pharmacogenomic results over a patient’s lifetime requires continuous effort. Reprocessing is a key strategy for the maintenance and expansion of pharmacogenomic content.View this paper
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Articles (193)

  • Article
  • Open Access
4 Citations
2,685 Views
12 Pages

Dismal Survival in COVID-19 Patients Requiring ECMO as Rescue Therapy after Corticosteroid Failure

  • Sebastian Voicu,
  • Antoine Goury,
  • Thomas Lacoste-Palasset,
  • Isabelle Malissin,
  • Lucie Fanet,
  • Samar Souissi,
  • Julia Busto,
  • Vincent Legros,
  • Laetitia Sutterlin and
  • Giulia Naim
  • + 5 authors

22 November 2021

(1) Background: COVID-19 may lead to refractory hypoxemia requiring venovenous extracorporeal membrane oxygenation (ECMO). Survival rate if ECMO is implemented as rescue therapy after corticosteroid failure is unknown. We aimed to investigate if ECMO...

  • Review
  • Open Access
11 Citations
3,805 Views
15 Pages

Precision Medicine in Phaeochromocytoma and Paraganglioma

  • Bettina Winzeler,
  • Benjamin G. Challis and
  • Ruth T. Casey

22 November 2021

Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects. Phaeochromocytoma and parag...

  • Article
  • Open Access
2 Citations
3,038 Views
8 Pages

Intensive Care Patients from the First COVID-19 Wave: One-Year Survival after Tocilizumab Treatment

  • Gabriele Melegari,
  • Enrico Giuliani,
  • Chiara Dallai,
  • Lucia Veronesi,
  • Elisabetta Bertellini,
  • Suela Osmenaj and
  • Alberto Barbieri

21 November 2021

Introduction: An infection by COVID-19 triggers a dangerous cytokine storm, so tocilizumab has been introduced in Italy as an agent blocking the cytokine storm. This paper aims to describe the one-year survival of ICU patients treated with tocilizuma...

  • Article
  • Open Access
3 Citations
3,912 Views
9 Pages

Automated Assessment of the Substantia Nigra Pars Compacta in Parkinson’s Disease: A Diffusion Tensor Imaging Study

  • Niels Bergsland,
  • Laura Pelizzari,
  • Maria Marcella Laganá,
  • Sonia Di Tella,
  • Federica Rossetto,
  • Raffaello Nemni,
  • Mario Clerici and
  • Francesca Baglio

21 November 2021

The substantia nigra (SN) pars compacta (SNpc) and pars reticulata (SNpr) are differentially affected in Parkinson’s disease (PD). Separating the SNpc and SNpr is challenging with standard magnetic resonance imaging (MRI). Diffusion tensor imaging (D...

  • Article
  • Open Access
11 Citations
3,540 Views
12 Pages

PSI-Guided Mandible-First Orthognathic Surgery: Maxillo-Mandibular Position Accuracy and Vertical Dimension Adjustability

  • Giovanni Badiali,
  • Mirko Bevini,
  • Ottavia Lunari,
  • Elisa Lovero,
  • Federica Ruggiero,
  • Federico Bolognesi,
  • Liliana Feraboli,
  • Alberto Bianchi and
  • Claudio Marchetti

21 November 2021

In orthognathic surgery, patient-specific osteosynthesis implants (PSIs) represent a novel approach for the reproduction of the virtual surgical planning on the patient. The aim of this study is to analyse the quality of maxillo-mandibular positionin...

  • Article
  • Open Access
5 Citations
2,439 Views
7 Pages

Individual Differences in Emotion Dysregulation and Social Anxiety Discriminate between High vs. Low Quality of Life in Patients with Mild Psoriasis

  • Edita Fino,
  • Paolo Maria Russo,
  • Vera Tengattini,
  • Federico Bardazzi,
  • Annalisa Patrizi and
  • Monica Martoni

21 November 2021

A deeper understanding of how health-related quality of life relates to the clinical and individual characteristics of patients is essential for the delivery of patient-centered dermatological care. The current study aimed to examine the role of indi...

  • Article
  • Open Access
7 Citations
4,962 Views
19 Pages

Association between Genetic Variants and Cisplatin-Induced Nephrotoxicity: A Genome-Wide Approach and Validation Study

  • Zulfan Zazuli,
  • Corine de Jong,
  • Wei Xu,
  • Susanne J. H. Vijverberg,
  • Rosalinde Masereeuw,
  • Devalben Patel,
  • Maryam Mirshams,
  • Khaleeq Khan,
  • Dangxiao Cheng and
  • Bayardo Ordonez-Perez
  • + 23 authors

20 November 2021

This study aims to evaluate genetic risk factors for cisplatin-induced nephrotoxicity by investigating not previously studied genetic risk variants and further examining previously reported genetic associations. A genome-wide study (GWAS) was conduct...

  • Article
  • Open Access
7 Citations
6,220 Views
17 Pages

PharmVIP: A Web-Based Tool for Pharmacogenomic Variant Analysis and Interpretation

  • Jittima Piriyapongsa,
  • Chanathip Sukritha,
  • Pavita Kaewprommal,
  • Chalermpong Intarat,
  • Kwankom Triparn,
  • Krittin Phornsiricharoenphant,
  • Chadapohn Chaosrikul,
  • Philip J. Shaw,
  • Wasun Chantratita and
  • Surakameth Mahasirimongkol
  • + 1 author

19 November 2021

The increasing availability of next generation sequencing (NGS) for personal genomics could promote pharmacogenomics (PGx) discovery and application. However, current tools for analysis and interpretation of pharmacogenomic variants from NGS data are...

  • Article
  • Open Access
12 Citations
3,174 Views
11 Pages

Evaluation of the Predictive Role of Blood-Based Biomarkers in the Context of Suspicious Prostate MRI in Patients Undergoing Prostate Biopsy

  • Pawel Rajwa,
  • Nicolai A. Huebner,
  • Dadjar I. Hostermann,
  • Nico C. Grossmann,
  • Victor M. Schuettfort,
  • Stephan Korn,
  • Fahad Quhal,
  • Frederik König,
  • Hadi Mostafaei and
  • Ekaterina Laukhtina
  • + 10 authors

19 November 2021

The aim of this study was to assess the predictive value of pre-biopsy blood-based markers in patients undergoing a fusion biopsy for suspicious prostate magnetic resonance imaging (MRI). We identified 365 consecutive patients who underwent MRI-targe...

  • Article
  • Open Access
10 Citations
3,039 Views
14 Pages

Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia)

  • Elena Shakhtshneider,
  • Dinara Ivanoshchuk,
  • Olga Timoshchenko,
  • Pavel Orlov,
  • Sergey Semaev,
  • Emil Valeev,
  • Andrew Goonko,
  • Nataliya Ladygina and
  • Mikhail Voevoda

19 November 2021

The aim of this work was to identify genetic variants potentially involved in familial hypercholesterolemia in 43 genes associated with lipid metabolism disorders. Targeted high-throughput sequencing of lipid metabolism genes was performed (80 subjec...

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J. Pers. Med. - ISSN 2075-4426