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Individual Revision Knee Arthroplasty Is a Safe Limb Salvage Procedure -
Is HSD17B13 Genetic Variant a Protector for Liver Dysfunction? Future Perspective as a Potential Therapeutic Target -
Moving towards Integrated and Personalized Care in Parkinson’s Disease: A Framework Proposal for Training Parkinson Nurses -
Personalized Medicine in Parkinson’s Disease: New Options for Advanced Treatments -
Biomarkers for Homologous Recombination Deficiency in Cancer
Journal Description
Journal of Personalized Medicine
Journal of Personalized Medicine
is an international, peer-reviewed, open access journal on personalized medicine published monthly online by MDPI.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, SCIE (Web of Science), PubMed, PMC, Embase, and many other databases.
- Journal Rank: JCR - Q1 (Health Care Sciences & Services) / CiteScore - Q2 (Medicine, miscellaneous)
- Rapid Publication: manuscripts are peer-reviewed and a first decision provided to authors approximately 19.1 days after submission; acceptance to publication is undertaken in 3.5 days (median values for papers published in this journal in the first half of 2021).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
Impact Factor:
4.945 (2020)
;
5-Year Impact Factor:
4.994 (2020)
Latest Articles
Molecular Determination of mirRNA-126 rs4636297, Phosphoinositide-3-kinase Regulatory Subunit 1-gene Variability rs7713645, rs706713 (Tyr73Tyr), rs3730089 (Met326Ile) and Their Association with Susceptibility to T2D
J. Pers. Med. 2021, 11(9), 861; https://doi.org/10.3390/jpm11090861 (registering DOI) - 29 Aug 2021
Abstract
Type 2 diabetes is a metabolic disease characterized by elevated blood sugar. It has serious complications and socioeconomic impact. The MicroRNAs are short single-stranded and non-coding RNA molecules. They regulate gene expression at the post-transcriptional levels. They are important for many physiological processes
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Type 2 diabetes is a metabolic disease characterized by elevated blood sugar. It has serious complications and socioeconomic impact. The MicroRNAs are short single-stranded and non-coding RNA molecules. They regulate gene expression at the post-transcriptional levels. They are important for many physiological processes including metabolism, growth, and others. The phosphoinositide 3-kinase (PI3K) is important for insulin signaling and glucose uptake. The genome wide association studies have identified the association of certain loci with diseases including T2D. In this study we have examined the association of miR126 rs4636297 and Phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) gene Variations rs7713645, rs706713 (Tyr73Tyr), and rs3730089 (Met326Ile) with T2D using the amplification refractory mutation system PCR. Results indicated that there was a significant different (p-value < 0.05) in the Mir126 rs4636297 genotypes distribution between cases and controls, and the minor allele of the rs4636297 was also associated with T2D with OR = 0.58, p-value < 0.05. In addition results showed that there were significant differences (p-value < 0.05) of rs4636297 genotype distribution of patients with normal and patient with abnormal lipid profile. Results also showed that the PIK3R1 rs7713645 and rs3730089 genotype distribution was significantly different between cases and controls with a p-values < 0.05. In addition, the minor allele of the rs7713645 and rs3730089 were associated with T2D with OR = 0.58, p-value < 0.05). We conclude that the Mir126 rs4636297 and PIK3R1 SNPs (rs7713645 and rs3730089) were associated with T2D. These results need verification in future studies with larger sample sizes and in different populations. Protein-protein interaction and enzyme assay studies are also required to uncover the effect of the SNPs on the PI3K regulatory subunit (PI3KR1) and PI3K catalytic activity.
Full article
(This article belongs to the Special Issue Cardiovascular Disease Prevention in the Era of Personalized Medicine)
Open AccessReview
Ways to Address Perinatal Mast Cell Activation and Focal Brain Inflammation, Including Response to SARS-CoV-2, in Autism Spectrum Disorder
J. Pers. Med. 2021, 11(9), 860; https://doi.org/10.3390/jpm11090860 (registering DOI) - 29 Aug 2021
Abstract
The prevalence of autism spectrum disorder (ASD) continues to increase, but no distinct pathogenesis or effective treatment are known yet. The presence of many comorbidities further complicates matters, making a personalized approach necessary. An increasing number of reports indicate that inflammation of the
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The prevalence of autism spectrum disorder (ASD) continues to increase, but no distinct pathogenesis or effective treatment are known yet. The presence of many comorbidities further complicates matters, making a personalized approach necessary. An increasing number of reports indicate that inflammation of the brain leads to neurodegenerative changes, especially during perinatal life, “short-circuiting the electrical system” in the amygdala that is essential for our ability to feel emotions, but also regulates fear. Inflammation of the brain can result from the stimulation of mast cells—found in all tissues including the brain—by neuropeptides, stress, toxins, and viruses such as SARS-CoV-2, leading to the activation of microglia. These resident brain defenders then release even more inflammatory molecules and stop “pruning” nerve connections, disrupting neuronal connectivity, lowering the fear threshold, and derailing the expression of emotions, as seen in ASD. Many epidemiological studies have reported a strong association between ASD and atopic dermatitis (eczema), asthma, and food allergies/intolerance, all of which involve activated mast cells. Mast cells can be triggered by allergens, neuropeptides, stress, and toxins, leading to disruption of the blood–brain barrier (BBB) and activation of microglia. Moreover, many epidemiological studies have reported a strong association between stress and atopic dermatitis (eczema) during gestation, which involves activated mast cells. Both mast cells and microglia can also be activated by SARS-CoV-2 in affected mothers during pregnancy. We showed increased expression of the proinflammatory cytokine IL-18 and its receptor, but decreased expression of the anti-inflammatory cytokine IL-38 and its receptor IL-36R, only in the amygdala of deceased children with ASD. We further showed that the natural flavonoid luteolin is a potent inhibitor of the activation of both mast cells and microglia, but also blocks SARS-CoV-2 binding to its receptor angiotensin-converting enzyme 2 (ACE2). A treatment approach should be tailored to each individual patient and should address hyperactivity/stress, allergies, or food intolerance, with the introduction of natural molecules or drugs to inhibit mast cells and microglia, such as liposomal luteolin.
Full article
(This article belongs to the Special Issue A Personalized Medicine Approach to the Diagnosis and Management of ASD)
Open AccessReview
Increased Prevalence of Celiac Disease in Patients with Cystic Fibrosis: A Systematic Review and Meta-Analysis
by
, , , , , , , , and
J. Pers. Med. 2021, 11(9), 859; https://doi.org/10.3390/jpm11090859 (registering DOI) - 28 Aug 2021
Abstract
Objectives: Immune regulation seems to be altered in cystic fibrosis (CF), thus potentially predisposing patients to developing autoimmune diseases (AID). In this meta-analysis, we aimed to evaluate the prevalence of celiac disease (CeD) among CF patients as by far the most commonly reported
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Objectives: Immune regulation seems to be altered in cystic fibrosis (CF), thus potentially predisposing patients to developing autoimmune diseases (AID). In this meta-analysis, we aimed to evaluate the prevalence of celiac disease (CeD) among CF patients as by far the most commonly reported autoimmune disease in this population and, secondly, to review the observations on other, less frequently studied autoimmune diseases. Methods: We conducted a systematic literature search for studies that discussed AIDs among CF patients. Following standard selection and data collection, we calculated pooled raw prevalence with 95% confidence intervals (CI) for biopsy-verified CeD and seropositivity. Results: Out of the 21 eligible studies, 15 reported on CeD. Pooled prevalence of biopsy-verified CeD was 1.8% (CI 1.1–2.7%) according to a homogeneous dataset from six prospective, consecutive screening studies, while it proved to be 2.3% (CI 1.1–4.7%) according to a heterogeneous dataset from the other studies. Tissue transglutaminase IgA positivity was detected in 4.5% of CF cases (CI 2.8–6.9%), while tissue transglutaminase IgA–endomysial antibody IgA double positivity was found in 2.4% of them (CI 1.5–3.9%). Findings on other AIDs were strongly limited. Conclusions: The pooled prevalence of CeD in CF seemed to be more than twice as high compared to the global prevalence; therefore, routine screening of CeD could be considered in CF.
Full article
Open AccessArticle
Identifying Clinicopathological Factors Associated with Oncotype DX® 21-Gene Recurrence Score: A Real-World Retrospective Cohort Study of Breast Cancer Patients in Quebec City, Canada
by
, , , , , , and
J. Pers. Med. 2021, 11(9), 858; https://doi.org/10.3390/jpm11090858 (registering DOI) - 28 Aug 2021
Abstract
Gene expression profiling tests such as the Oncotype DX (ODX) 21-gene recurrence score (RS) assay is increasingly used in clinical practice to predict the risk of recurrence and support treatment planning for early-stage breast cancer (BC). However, this test has some disadvantages such
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Gene expression profiling tests such as the Oncotype DX (ODX) 21-gene recurrence score (RS) assay is increasingly used in clinical practice to predict the risk of recurrence and support treatment planning for early-stage breast cancer (BC). However, this test has some disadvantages such as a high cost and a long turnaround time to get results, which may lead to disparities in access. We aim to identify clinicopathological factors associated with ODX RS in women with early-stage BC. We conducted a retrospective cohort study of women identified in the medical database of the Deschênes-Fabia Breast Disease Center of Quebec City University, Canada. Our sample consists of 425 women diagnosed with early-stage BC who have obtained an ODX RS between January 2011 and April 2015. The ODX RS has been categorized into three levels as originally defined: low (0–17), intermediate (18–30), and high (>30). The mean RS was 17.8 (SD = 9.2). Univariate analyses and multinomial logistic regressions were performed to identify factors associated with intermediate and high RS compared with low RS. A total of 237 (55.8%) patients had low RS, 148 (34.8%) had intermediate RS, and 40 (9.4%) had high RS. Women with progesterone receptor (PR)-negative (ORs ranging from 3.51 to 10.34) and histologic grade II (ORs ranging from 3.16 to 23.04) tumors were consistently more likely to have intermediate or high RS than low RS. Similar patterns of associations were observed when the RS was categorised using redefined thresholds from (i.e., from the TAILORx study or dichotomized). This study provides evidence suggesting that histologic grade and PR status are predictive factors for intermediate or high RS in women with early-stage BC. If these results are confirmed in future studies, considering these clinicopathological factors could spare women the need to get such a test before the beginning of a possible adjuvant therapy. This option could be considered in settings where the cost of testing is an issue.
Full article
(This article belongs to the Special Issue Personalized Approaches for the Prevention and Treatment of Breast Cancer)
Open AccessArticle
A Novel Tool for a Challenging Disease: Stasis Leg Ulcers Assessed Using QFlow in Triggered Angiography Noncontrast Enhanced Magnetic Resonance Imaging
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, , , , , , and
J. Pers. Med. 2021, 11(9), 857; https://doi.org/10.3390/jpm11090857 (registering DOI) - 28 Aug 2021
Abstract
Imaging characteristics of stasis leg ulcers (SLUs) are not easily demonstrated through existing diagnostic tools. Early diagnosis and treatment are crucial. This pilot study was conducted to assess the quantitative flow (QFlow) in triggered angiography noncontrast enhanced (TRANCE) magnetic resonance imaging (MRI) to
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Imaging characteristics of stasis leg ulcers (SLUs) are not easily demonstrated through existing diagnostic tools. Early diagnosis and treatment are crucial. This pilot study was conducted to assess the quantitative flow (QFlow) in triggered angiography noncontrast enhanced (TRANCE) magnetic resonance imaging (MRI) to identify the hemodynamics of victims with stasis leg ulcers (SLUs). This study included 33 patients with SLUs and 14 healthy controls (HC). The 33 patients with SLUs were divided into a reflux (15 patients) and a nonreflux group (18 patients). QFlow was done in the reflux, the nonreflux, and the HC. The stroke volume (SV), forward flow volume (FFV), absolute flow volume (AFV), mean flow (MF), and mean velocity (MV) were higher in the reflux than in the HC group in most segments, namely the external iliac vein (EIV), popliteal vein (PV), and great saphenous vein (GSV) (SV, p = 0.008; FFV, p = 0.008; absolute stroke volume (ASV), p = 0.008; MF, p = 0.002; MV, p = 0.009). No differences in the QFlow patterns were found in the GSV segment between the nonreflux group and the HC. Excellent performance in discriminating SLU with superficial venous reflux was reported for SV in the EIV and the PV (area under the curve (AUC) = 0.851 and 0.872), FFV in the EIV and PV (AUC = 0.854 and 0.869), ASV in the EIV and PV (AUC = 0.848 and 0.881), and MF in the EIV and PV (AUC = 0.866 and 0.868). The cutoff levels of SV/FFV/ASV/MF in the EIV/FV/PV/GSV for discriminating the SLU with superficial venous reflux were identified (p < 0.005). In conclusion, SLUs present different QFlow patterns by different etiology. The QFlow parameters of all vessel segments were higher in the morbid limbs of the reflux group than HC. The GSV segment of the nonreflux group displayed a pattern like the HC.
Full article
(This article belongs to the Special Issue Chronic Vascular Disease and Personalized Medicine: Unraveling New Horizons)
Open AccessArticle
Evaluation of Plaque Vulnerability via Combination of Hemodynamic Analysis and Simultaneous Non-Contrast Angiography and Intraplaque Hemorrhage (SNAP) Sequence for Carotid Intraplaque Hemorrhage
by
and
J. Pers. Med. 2021, 11(9), 856; https://doi.org/10.3390/jpm11090856 (registering DOI) - 28 Aug 2021
Abstract
The purpose of this study was to assess the vulnerability of plaque using a combination of simultaneous non-contrast angiography, intraplaque hemorrhage (SNAP) sequence, and local hemodynamic analysis in an intraplaque hemorrhage (IPH), and to evaluate the association between morphological and hemodynamic factors and
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The purpose of this study was to assess the vulnerability of plaque using a combination of simultaneous non-contrast angiography, intraplaque hemorrhage (SNAP) sequence, and local hemodynamic analysis in an intraplaque hemorrhage (IPH), and to evaluate the association between morphological and hemodynamic factors and IPH by comparing the IPH (presence of IPH) and non-IPH (plaque with absence of IPH) groups. In total, 27 IPH patients and 27 non-IPH patients were involved in this study, and baseline characteristics were collected. For morphological factors, diameters, and areas of the internal carotid artery (ICA), external carotid artery, and common carotid artery were measured, and bifurcation angle (α) and ICA angle (β) were also measured for comparison between the IPH group and non-IPH group. For hemodynamic factors, time-averaged wall shear stress (WSS), minimum WSS, maximum WSS, and oscillatory shear index were calculated using computational fluid dynamics (CFD) simulations. For the qualitative analysis, cross-sectional images with analyzed WSS and SNAP sequences were combined to precisely assess local hemodynamics. Bifurcation angle (α) was significantly different between the IPH and non-IPH groups (39.47 degrees vs. 47.60 degrees, p = 0.041). Significantly higher time-averaged WSS, minimum WSS, and maximum WSS were observed in the IPH group compared to the non-IPH group. In the IPH group, when using the combined analysis with SNAP sequences and WSS, the WSS of the region with IPH was significantly higher than the region without IPH (2.32 vs. 1.21 Pa, p = 0.005). A smaller bifurcation angle (α) and higher time-averaged WSS, minimum WSS, and maximum WSS were associated with IPH. The combined analysis of SNAP sequences and WSS might help to evaluate the risk of carotid IPH.
Full article
(This article belongs to the Special Issue Personalized Medicine and Multidisciplinary Approach in a Clinical Research Hospital)
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Open AccessArticle
Simple and Reliable Method for Gastric Subepithelial Tumor Localization Using Endoscopic Tattooing before Totally Laparoscopic Resection
by
, , , , , and
J. Pers. Med. 2021, 11(9), 855; https://doi.org/10.3390/jpm11090855 (registering DOI) - 28 Aug 2021
Abstract
Background: Totally laparoscopic surgery for early gastric cancer and subepithelial tumors has been popularized worldwide, yet localization of early or small-sized tumors is a persistent challenge due to difficulty being identified with the lack of manual tactile sensation. Thus, accurate localization with tattooing
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Background: Totally laparoscopic surgery for early gastric cancer and subepithelial tumors has been popularized worldwide, yet localization of early or small-sized tumors is a persistent challenge due to difficulty being identified with the lack of manual tactile sensation. Thus, accurate localization with tattooing before the surgery would help improve efficiency during surgery. There are multiple methods to localize tumors before laparoscopy, each with varying advantages and disadvantages. The use of endoscopic tattooing with dye has been carried out for several decades due to its safety, lower cost, and convenience. However, there is a lack of studies on endoscopic tattooing before totally laparoscopic resection. Aims: To evaluate the effect of endoscopic tattooing with dye for gastric subepithelial tumors localization before laparoscopic resection and to evaluate the tattooing effect on different locations of tumors in stomach. Method: We retrospectively collected data of patients with gastric subepithelial tumors who underwent endoscopic tattooing before totally laparoscopic resection from 2017 to 2020 in a university affiliated medical center. All patients were analyzed for preoperative characteristics and then categorized into two groups based on tumor locations concerning the difficulty of laparoscopic surgery. The independent t test and Chi-square test were performed to compare perioperative outcome and complications between these two groups. Result: A total of 19 patients were included retrospectively at our center. The individuals were 5 male and 14 female patients with a mean age of 58.2 years old. Most patients had no symptoms, and the tumors were found incidentally in 12 patients (63%). All tumors were identified clearly during laparoscopic resection. The mean tumor size was 2.3 cm. The surgeries took an average of 111 min and a mean of 7 mL blood loss was found. All tumors had negative resection margins with no recurrence during follow-up. Gastrointestinal stromal tumor was the major pathologic diagnosis, found in 12 patients (63%), followed by the leiomyoma in 5 patients (26%). Only three patients had mild adverse effects after surgery and the symptoms were self-limited. Our analysis found no significant difference in preoperative patient characteristics and perioperative outcomes between patients with differing tumor locations. Conclusion: This study is the first and largest report on endoscopic tattooing with dye before laparoscopic resection of gastric subepithelial tumor resection. Our results emphasize that endoscopic tattooing with dye is a safe and reliable method for localizing subepithelial tumors in the stomach prior to totally laparoscopic resection, with no correlation to where the tumor is located.
Full article
Open AccessArticle
Locked-In Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study
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, , , , , and
J. Pers. Med. 2021, 11(9), 854; https://doi.org/10.3390/jpm11090854 (registering DOI) - 28 Aug 2021
Abstract
Resting-state functional magnetic resonance imaging (rs-fMRI) has the potential to investigate abnormalities in brain network structure and connectivity on an individual level in neurodevelopmental disorders, such as autism spectrum disorder (ASD), paving the way toward using this technology for a personalized, precision medicine
[...] Read more.
Resting-state functional magnetic resonance imaging (rs-fMRI) has the potential to investigate abnormalities in brain network structure and connectivity on an individual level in neurodevelopmental disorders, such as autism spectrum disorder (ASD), paving the way toward using this technology for a personalized, precision medicine approach to diagnosis and treatment. Using a case-control design, we compared five patients with severe regressive-type ASD to five patients with temporal lobe epilepsy (TLE) to examine the association between brain network characteristics and diagnosis. All children with ASD and TLE demonstrated intact motor, language, and frontoparietal (FP) networks. However, aberrant networks not usually seen in the typical brain were also found. These aberrant networks were located in the motor (40%), language (80%), and FP (100%) regions in children with ASD, while children with TLE only presented with aberrant networks in the motor (40%) and language (20%) regions, in addition to identified seizure onset zones. Fisher’s exact test indicated a significant relationship between aberrant FP networks and diagnosis (p = 0.008), with ASD and atypical FP networks co-occurring more frequently than expected by chance. Despite severe cognitive delays, children with regressive-type ASD may demonstrate intact typical cortical network activation despite an inability to use these cognitive facilities. The functions of these intact cognitive networks may not be fully expressed, potentially because aberrant networks interfere with their long-range signaling, thus creating a unique “locked-in network” syndrome.
Full article
(This article belongs to the Special Issue A Personalized Medicine Approach to the Diagnosis and Management of ASD)
Open AccessCommentary
Potential Use of Pharmacogenetics to Reduce Drug-Induced Syndrome of Inappropriate Antidiuretic Hormone (SIADH)
J. Pers. Med. 2021, 11(9), 853; https://doi.org/10.3390/jpm11090853 (registering DOI) - 28 Aug 2021
Abstract
Syndrome of inappropriate antidiuretic hormone (SIADH) is a common cause of hyponatremia, and many cases represent adverse reactions to drugs that alter ion channel conductance within the peptidergic nerve terminals of the posterior pituitary. The frequency of drug-induced SIADH increases with age; as
[...] Read more.
Syndrome of inappropriate antidiuretic hormone (SIADH) is a common cause of hyponatremia, and many cases represent adverse reactions to drugs that alter ion channel conductance within the peptidergic nerve terminals of the posterior pituitary. The frequency of drug-induced SIADH increases with age; as many as 20% of patients residing in nursing homes have serum sodium levels below 135 mEq/L. Mild hyponatremia is associated with cognitive changes, gait instability, and falls. Severe hyponatremia is associated with cerebral edema, seizures, permanent disability, and/or death. Although pharmacogenetic tests are now being deployed for some drugs capable of causing SIADH (e.g., antidepressants, antipsychotics, and opioid analgesics), the implementation of these tests has been based upon the prior known association of these drugs with other serious adverse drug reactions (e.g., electrocardiographic abnormalities). Work is needed in large observational cohorts to quantify the strength of association between pharmacogene variants and drug-induced SIADH so that decision support can be developed to identify patients at high risk.
Full article
(This article belongs to the Special Issue Pharmacogenetic Testing in Primary Care and Prevention)
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Open AccessArticle
Association of Breast Tumour Expression of Cannabinoid Receptors CBR1 and CBR2 with Prognostic Factors and Survival in Breast Cancer Patients
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, , , , , , and
J. Pers. Med. 2021, 11(9), 852; https://doi.org/10.3390/jpm11090852 (registering DOI) - 28 Aug 2021
Abstract
Cannabinoid receptors (CBR) are potential therapeutic targets for breast cancer. However, the role of CBR in breast cancer survival remains poorly understood. Data from a prospective cohort of 522 women diagnosed with invasive breast cancer between 2010 and 2012 were analysed. Clinical and
[...] Read more.
Cannabinoid receptors (CBR) are potential therapeutic targets for breast cancer. However, the role of CBR in breast cancer survival remains poorly understood. Data from a prospective cohort of 522 women diagnosed with invasive breast cancer between 2010 and 2012 were analysed. Clinical and pathological features were retrieved from electronic medical records. CBR expression was measured by immunohistochemistry. Adjusted partial Spearman correlations and multivariate Cox models were used to estimate associations with breast cancer prognostic factors and survival, respectively. The median follow-up was 92.0 months (range 7.0–114.0). CBR expression was heterogenous in tumours. Cytoplasmic expression of CBR1 was positively correlated with lymph node invasion (rs = 0.110; p = 0.0155) and positive status of the human epidermal growth factor receptor 2 (HER2) (rs = 0.168; p = 0.0002), while nuclear CBR2 was negatively correlated with grade (rs = −0.171; p = 0.0002) and positively correlated with oestrogen receptor and progesterone receptor-positive status (rs = 0.173; p = 0.0002 and rs = 0.121; p = 0.0084, respectively). High cytoplasmic expression of CBR2 was associated, with 13% higher locoregional and distant recurrences (HR = 1.13 [0.97–1.33]), though this association did not reach statistical significance. Although the few events occurring during follow-up may have limited the detection of significant associations, these results indicate that CBR expression in breast cancer deserves further investigation.
Full article
(This article belongs to the Special Issue Personalized Approaches for the Prevention and Treatment of Breast Cancer)
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Open AccessArticle
Precision Medicine into Clinical Practice: A Web-Based Tool Enables Real-Time Pharmacogenetic Assessment of Tailored Treatments in Psychiatric Disorders
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, , , , , , , , , , , and
J. Pers. Med. 2021, 11(9), 851; https://doi.org/10.3390/jpm11090851 (registering DOI) - 27 Aug 2021
Abstract
The management of neuropsychiatric disorders involves different pharmacological treatments. In order to perform efficacious drug treatments, the metabolism of CYP genes can help to foresee potential drug–drug interactions. The NeuroPGx software is an open-source web-based tool for genotype/diplotype/phenotype interpretation for neuropharmacogenomic purposes. The
[...] Read more.
The management of neuropsychiatric disorders involves different pharmacological treatments. In order to perform efficacious drug treatments, the metabolism of CYP genes can help to foresee potential drug–drug interactions. The NeuroPGx software is an open-source web-based tool for genotype/diplotype/phenotype interpretation for neuropharmacogenomic purposes. The software provides information about: (i) the genotypes of evaluated SNPs (single nucleotide polymorphisms); (ii) the main diplotypes in CYP genes and corresponding metabolization phenotypes; (iii) the list of neuropsychiatric drugs with recommended dosage adjustment (according to CPIC and DPWG guidelines); (iv) the list of possible (rare) diplotypes and corresponding metabolization phenotypes. The combined application of NeuroPGx software to the OpenArray technology results in an easy, quick, and highly automated device ready to be used in routine clinical practice.
Full article
(This article belongs to the Special Issue Personalized Medicine for Neurodegenerative Dementia)
Open AccessReview
Patient-Reported Outcomes following Genetic Testing for Familial Hypercholesterolemia, Breast and Ovarian Cancer Syndrome, and Lynch Syndrome: A Systematic Review
J. Pers. Med. 2021, 11(9), 850; https://doi.org/10.3390/jpm11090850 (registering DOI) - 27 Aug 2021
Abstract
Background: Patient-reported outcomes (PROs) and PRO measures (PROMs) are real-world evidence that can help capture patient experiences and perspectives regarding a clinical intervention such as genetic testing. Objective: To identify and capture methods and qualitative PRO themes among studies reporting PROs following genetic
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Background: Patient-reported outcomes (PROs) and PRO measures (PROMs) are real-world evidence that can help capture patient experiences and perspectives regarding a clinical intervention such as genetic testing. Objective: To identify and capture methods and qualitative PRO themes among studies reporting PROs following genetic testing for FH, breast and ovarian cancer syndrome, and Lynch syndrome. Methods: A systematic review was conducted via PubMed/MEDLINE, EMBASE, and Yale University’s TRIP Medical Databases on articles published by April 2021. Results: We identified 24 studies published between 1996 and 2021 representing 4279 participants that reported PROs following genetic testing for FH, breast and ovarian cancer syndrome, and Lynch syndrome. Studies collected and reported PROs from validated PROM instruments (n = 12; 50%), validated surveys (n = 7; 26%), and interviews (n = 10; 42%). PRO themes ranged across all collection methods (e.g., psychological, knowledge, coping and satisfaction, concern about stigma/discrimination, etc.). Conclusions: Important gaps identified include (1) most studies (n = 18; 75%) reported PROs following genetic testing for breast and ovarian cancer, and (2) populations reporting PROs overall were largely of White/Caucasian/Northern European/Anglo-Saxon descent. We offer recommendations and describe real-world implications for the field moving forward.
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(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Open AccessReview
Peri- and Post-Menopausal Women with Schizophrenia and Related Disorders Are a Population with Specific Needs: A Narrative Review of Current Theories
J. Pers. Med. 2021, 11(9), 849; https://doi.org/10.3390/jpm11090849 (registering DOI) - 27 Aug 2021
Abstract
Background: While gender differences in antipsychotic response have been recognized, the potential role of menopause in changing drug efficacy and clinical outcome in schizophrenia related disorders has been understudied. We aimed to review the relevant literature to test whether optimizing menopausal and post-menopausal
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Background: While gender differences in antipsychotic response have been recognized, the potential role of menopause in changing drug efficacy and clinical outcome in schizophrenia related disorders has been understudied. We aimed to review the relevant literature to test whether optimizing menopausal and post-menopausal treatment and addressing specific health needs of this stage in life will improve outcome. Methods: Non-systematic narrative review using the PubMed database (1900–July 2021) focusing on randomized controlled trial results addressing our question. Forty-nine studies met our criteria. Results: Premenopausal women show significantly better antipsychotic response than postmenopausal women. Hormone replacement therapies (HRT) should be used in postmenopausal women with schizophrenia with caution. Raloxifene, combined with antipsychotics, is effective for psychotic and cognitive symptoms in postmenopausal women with schizophrenia and related disorders. Medical comorbidities increase after menopause, but the influence of comorbidities on clinical outcomes has been poorly investigated. Preventive strategies include weighing risks and benefits of treatment, preventing medical comorbidities, and enhancing psychosocial support. Ideal treatment settings for this population warrant investigation. Conclusions: Antipsychotic dose adjustment at menopause is recommended for schizophrenia. Raloxifene may play an important role in permitting dose reduction and lessening adverse effects. Prevention of comorbidities will help to reduce the mortality rate.
Full article
(This article belongs to the Special Issue Personalizing Medicine by Sex, Gender and Hormonal Status: Progress, Opportunities and Challenges)
Open AccessReview
Molecular Dysregulation in Autism Spectrum Disorder
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, , , , and
J. Pers. Med. 2021, 11(9), 848; https://doi.org/10.3390/jpm11090848 (registering DOI) - 27 Aug 2021
Abstract
Autism Spectrum Disorder (ASD) comprises a heterogeneous group of neurodevelopmental disorders with a strong heritable genetic components. At present, ASD is diagnosed solely by behavioral criteria. Advances in genomic analysis have contributed to numerous candidate genes for the risk of ASD, where rare
[...] Read more.
Autism Spectrum Disorder (ASD) comprises a heterogeneous group of neurodevelopmental disorders with a strong heritable genetic components. At present, ASD is diagnosed solely by behavioral criteria. Advances in genomic analysis have contributed to numerous candidate genes for the risk of ASD, where rare mutations and s common variants contribute to its susceptibility. Moreover, studies show rare de novo variants, copy number variation and single nucleotide polymorphisms (SNPs) also impact neurodevelopment signaling. Exploration of rare and common variants involved in common dysregulated pathways can provide new diagnostic and therapeutic strategies for ASD. Contributions of current innovative molecular strategies to understand etiology of ASD will be explored which are focused on whole exome sequencing (WES), whole genome sequencing (WGS), microRNA, long non-coding RNAs and CRISPR/Cas9 models. Some promising areas of pharmacogenomic and endophenotype directed therapies as novel personalized treatment and prevention will be discussed.
Full article
(This article belongs to the Special Issue Disease Gene Identification and Personalized Medicine in Autism)
Open AccessArticle
A Cost Decision Model Supporting Treatment Strategy Selection in BRCA1/2 Mutation Carriers in Breast Cancer
J. Pers. Med. 2021, 11(9), 847; https://doi.org/10.3390/jpm11090847 (registering DOI) - 27 Aug 2021
Abstract
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In this paper, a cost decision-making model that compares the healthcare costs for diverse treatment strategies is built for BRCA-mutated women with breast cancer. Moreover, this model calculates the cancer treatment costs that could potentially be prevented, if the treatment strategy with the
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In this paper, a cost decision-making model that compares the healthcare costs for diverse treatment strategies is built for BRCA-mutated women with breast cancer. Moreover, this model calculates the cancer treatment costs that could potentially be prevented, if the treatment strategy with the lowest total cost, along the entire lifetime of the patient, is chosen for high-risk women with breast cancer. The benchmark of the healthcare costs for diverse treatment strategies is selected in the presence of uncertainty, i.e., considering, throughout the lifetime of the patient, the risks and complications that may arise in each strategy and, therefore, the costs associated with the management of such events. Our results reveal a clear economic advantage of adopting the cost decision-making model for benchmarking the healthcare costs for various treatment strategies for BRCA-mutated women with breast cancer. The cost savings were higher when all breast cancer patients underwent counseling and genetic testing before deciding on any diagnostic-therapeutic path, with a probability of obtaining savings of over 75%.
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Open AccessArticle
Association between Domperidone Administered via Feeding Tube and Feeding Success in Critically Ill Patients with Enteral Feeding Intolerance
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J. Pers. Med. 2021, 11(9), 846; https://doi.org/10.3390/jpm11090846 (registering DOI) - 27 Aug 2021
Abstract
One nutritional challenge in critically ill patients is enteral feeding intolerance (EFI), but current prokinetic agents have uncertain efficacy and safety profiles. We conducted a longitudinal, single-center, retrospective study to evaluate the efficacy and safety of domperidone administered via the feeding tube versus
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One nutritional challenge in critically ill patients is enteral feeding intolerance (EFI), but current prokinetic agents have uncertain efficacy and safety profiles. We conducted a longitudinal, single-center, retrospective study to evaluate the efficacy and safety of domperidone administered via the feeding tube versus intravenous (IV) metoclopramide among adult patients with EFI. The primary outcome was feeding success, defined as the proportion of patients with average percentage of daily protein prescription >80% of the target dose. The secondary outcomes were safety endpoints. Among 28,814 intensive care unit (ICU) admissions, 552 patients with EFI were included, 38 receiving IV metoclopramide and 514 receiving tube feeding domperidone. The proportion of feeding success in patients receiving tube feeding domperidone and IV metoclopramide was 42.02% and 21.05%, respectively. After 1:2 matching (IV metoclopramide to tube feeding domperidone), the proportion of feeding success was 40.79% in patients receiving tube feeding domperidone. Basically, after matching, there were no differences in any safety endpoints (mortality and length of stay during ICU and hospitalization, organ-support-treatment free days) or adverse events (recurrence of EFI, electrolyte disturbance, abdominal and other symptoms) between the two groups (p > 0.05). A logistic regression analysis in the matched cohort indicated that domperidone administered via the feeding tube was independently associated with feeding success. We found that tube feeding domperidone was efficient in increasing enteral nutrition delivery performance among critically ill adult patients with EFI.
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(This article belongs to the Special Issue Personalized Medicine in Emergency and Intensive Care)
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Open AccessArticle
Mobile Health, Disease Knowledge, and Self-Care Behavior in Chronic Kidney Disease: A Prospective Cohort Study
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J. Pers. Med. 2021, 11(9), 845; https://doi.org/10.3390/jpm11090845 (registering DOI) - 27 Aug 2021
Abstract
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Mobile health (mHealth) management is an emerging strategy of care for patients with chronic diseases. However, the effect of mHealth management on clinical outcomes of patients with chronic kidney disease (CKD) has not been well-studied. The aim of this study was to investigate
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Mobile health (mHealth) management is an emerging strategy of care for patients with chronic diseases. However, the effect of mHealth management on clinical outcomes of patients with chronic kidney disease (CKD) has not been well-studied. The aim of this study was to investigate the additional influence of mHealth on disease knowledge and self-care behavior in CKD patients who had received traditional education. We designed and developed a new healthcare mobile application, called iCKD, which has several major features, including home-based physiological signal monitoring, disease health education, nutrition analysis, medication reminder, and alarms and a warning system. Trained nurses interviewed patients with CKD using structured questionnaires of disease knowledge and self-care behavior. After propensity score matching, we analyzed 107 patients who used iCKD and traditional education, and 107 who received traditional education. The patients who used iCKD had higher disease knowledge scores than those who received traditional education. In multivariate analysis, iCKD was significantly and positively associated with disease knowledge scores. Patients with high education levels could have greater disease knowledge through using mHealth. There was no significant difference in total scores of self-care behavior between the two groups. In conclusion, mHealth can significantly increase disease knowledge in patients with CKD.
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Open AccessArticle
Poor Prognosis of Diffuse Large B-Cell Lymphoma with Hepatitis C Infection
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J. Pers. Med. 2021, 11(9), 844; https://doi.org/10.3390/jpm11090844 (registering DOI) - 27 Aug 2021
Abstract
Background: Hepatitis C virus (HCV) in diffuse large B-cell lymphoma (DLBCL) is associated with a higher prevalence and distinctive clinical characteristics and outcomes. Methods: A retrospective analysis of adult DLBCL patients from 2011 to 2015 was studied. Results: A total of 206 adult
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Background: Hepatitis C virus (HCV) in diffuse large B-cell lymphoma (DLBCL) is associated with a higher prevalence and distinctive clinical characteristics and outcomes. Methods: A retrospective analysis of adult DLBCL patients from 2011 to 2015 was studied. Results: A total of 206 adult DLBCL were enrolled with 22 (10.7%) HCV-positive patients. Compared to HCV-negative patients, the HCV-positive group had a poor performance status (p = 0.011), lower platelet count (p = 0.029), and higher spleen and liver involvement incidences (liver involvement, p = 0.027, spleen involvement, p = 0.026), and they received fewer cycles of chemotherapy significantly due to morbidity and mortality (p = 0.048). Overall survival was shorter in HCV-positive DLBCL (25.3 months in HCV-positive vs. not reached (NR), p = 0.049). With multivariate analysis, poor performance status (p < 0.001), advanced stage (p < 0.001), less chemotherapy cycles (p < 0.001), and the presence of liver toxicity (p = 0.001) contributed to poor OS in DLBCL. Among HCV-positive DLBCL, the severity of liver fibrosis was the main risk factor related to death. Conclusion: Inferior survival of HCV-positive DLBCL was observed and associated with poor performance status, higher numbers of complications, and intolerance of treatment, leading to fewer therapy. Therefore, anti-HCV therapy, such as direct-acting antiviral agents, might benefit these patients in the future.
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(This article belongs to the Special Issue Personalized Medicine in Epidemics)
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Indocyanine Green Angiography for Parathyroid Gland Evaluation during Transoral Endoscopic Thyroidectomy
J. Pers. Med. 2021, 11(9), 843; https://doi.org/10.3390/jpm11090843 (registering DOI) - 27 Aug 2021
Abstract
Indocyanine green (ICG) angiography, a real-time intraoperative imaging technique, is associated with better parathyroid identification and functional evaluation during open thyroidectomy. However, the benefits of ICG fluorescence imaging application in transoral endoscopic thyroidectomy are not well-documented. Consecutive patients who underwent transoral endoscopic thyroidectomy
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Indocyanine green (ICG) angiography, a real-time intraoperative imaging technique, is associated with better parathyroid identification and functional evaluation during open thyroidectomy. However, the benefits of ICG fluorescence imaging application in transoral endoscopic thyroidectomy are not well-documented. Consecutive patients who underwent transoral endoscopic thyroidectomy were retrospectively reviewed. Parathyroid glands were assessed with visual inspection followed by ICG angiography. The fluorescence intensity of all parathyroid glands was recorded. In total, 158 parathyroid glands from 60 patients (41 underwent lobectomy and 19 underwent total thyroidectomy) were eligible for evaluation. A total of 135 parathyroid glands (85.4%) were identified, including nine glands (5.7%) that were solely localized because of ICG angiography. Incidental parathyroidectomy occurred in 12 patients with predominant inferior gland (83.3%) and associated with central neck dissection (66.7%). Among patients receiving total thyroidectomy, patients who retained at least one well-perfused parathyroid gland had higher parathyroid hormone (PTH) level and were less likely to develop hypoparathyroidism on postoperative day one than those without any well-perfused ICG-enhanced parathyroid gland (p = 0.038). In addition, the duration of calcium supplementation to maintain normocalcemia was also shorter. ICG angiography is a feasible adjunct procedure for parathyroid identification and postoperative functional prediction in transoral endoscopic thyroidectomy.
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(This article belongs to the Section Methodology, Drug and Device Discovery)
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Open AccessReview
Making Radiomics More Reproducible across Scanner and Imaging Protocol Variations: A Review of Harmonization Methods
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J. Pers. Med. 2021, 11(9), 842; https://doi.org/10.3390/jpm11090842 (registering DOI) - 27 Aug 2021
Abstract
Radiomics converts medical images into mineable data via a high-throughput extraction of quantitative features used for clinical decision support. However, these radiomic features are susceptible to variation across scanners, acquisition protocols, and reconstruction settings. Various investigations have assessed the reproducibility and validation of
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Radiomics converts medical images into mineable data via a high-throughput extraction of quantitative features used for clinical decision support. However, these radiomic features are susceptible to variation across scanners, acquisition protocols, and reconstruction settings. Various investigations have assessed the reproducibility and validation of radiomic features across these discrepancies. In this narrative review, we combine systematic keyword searches with prior domain knowledge to discuss various harmonization solutions to make the radiomic features more reproducible across various scanners and protocol settings. Different harmonization solutions are discussed and divided into two main categories: image domain and feature domain. The image domain category comprises methods such as the standardization of image acquisition, post-processing of raw sensor-level image data, data augmentation techniques, and style transfer. The feature domain category consists of methods such as the identification of reproducible features and normalization techniques such as statistical normalization, intensity harmonization, ComBat and its derivatives, and normalization using deep learning. We also reflect upon the importance of deep learning solutions for addressing variability across multi-centric radiomic studies especially using generative adversarial networks (GANs), neural style transfer (NST) techniques, or a combination of both. We cover a broader range of methods especially GANs and NST methods in more detail than previous reviews.
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(This article belongs to the Section Omics/Informatics)
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