Journal of Personalized Medicine

7 pages, 250 KiB

Open AccessOpinion

Will Organoids Fill the Gap towards Functional Precision Medicine?

by Federica Papaccio, Manuel Cabeza-Segura, Blanca Garcia-Micò, Noelia Tarazona, Desamparados Roda, Josefa Castillo and Andres Cervantes

J. Pers. Med. 2022, 12(11), 1939; https://doi.org/10.3390/jpm12111939 - 21 Nov 2022

Cited by 13 | Viewed by 2559

Abstract

Precision medicine approaches for solid tumors are mainly based on genomics. Its employment in clinical trials has led to somewhat underwhelming results, except for single responses. Moreover, several factors can influence the response, such as gene and protein expression, the coexistence of different [...] Read more.

Precision medicine approaches for solid tumors are mainly based on genomics. Its employment in clinical trials has led to somewhat underwhelming results, except for single responses. Moreover, several factors can influence the response, such as gene and protein expression, the coexistence of different genomic alterations or post-transcriptional/translational modifications, the impact of tumor microenvironment, etc., therefore making it insufficient to employ a genomics-only approach to predict response. Recently, the implementation of patient-derived organoids has shed light on the possibility to use them to predict patient response to drug treatment. This could offer for the first time the possibility to move precision medicine to a functional environment. Full article

(This article belongs to the Special Issue The Present and Future of Personalized Medicine in Oncology)

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Graphical abstract

24 pages, 381 KiB

Open AccessArticle

Everyday Life after the First Psychiatric Admission: A Portuguese Phenomenological Research

by Margarida Alexandra Rodrigues Tomás and Maria Teresa dos Santos Rebelo

J. Pers. Med. 2022, 12(11), 1938; https://doi.org/10.3390/jpm12111938 - 21 Nov 2022

Cited by 2 | Viewed by 1481

Abstract

Returning to daily life after psychiatric admission can be difficult and complex. We aimed to explore, describe and interpret the lived experience of returning to everyday life after the first psychiatric admission. We designed this research as a qualitative study, using van Manen’s [...] Read more.

Returning to daily life after psychiatric admission can be difficult and complex. We aimed to explore, describe and interpret the lived experience of returning to everyday life after the first psychiatric admission. We designed this research as a qualitative study, using van Manen’s phenomenology of practice. We collected experiential material through phenomenological interviews with 12 participants, from 5 June 2018 to 18 December 2018. From the thematic and hermeneutic analysis, we captured seven themes: (1) (un)veiling the imprint within the self; (2) the haunting memories within the self; (3) from disconnection to the assimilation of the medicated body in the self; (4) from recognition to overcoming the fragility within the self; (5) the relationship with health professionals: from expectation to response; (6) the relationship with others: reformulating the bonds of alterity; (7) the relationship with the world: reconnecting as a sense of self. The results allow us to establish the phenomenon as a difficult, complex, demanding and lengthily transitional event that calls into question the person’s stability and ability for well-being and more-being. Thus, implementing structured transitional interventions by health services seems crucial. Mental health specialist nurses can present a pivotal role in establishing a helping relationship with recovery-oriented goals, coordinating patients’ transitional care, and assuring continuity of care sensitive to the person’s subjective experiences, volitions, and resources. Full article

(This article belongs to the Special Issue Advances in Personalized Nursing Care)

11 pages, 888 KiB

Open AccessArticle

Functional Profile of Older Adults Hospitalized in Rehabilitation Units of the National Network of Integrated Continuous Care of Portugal: A Longitudinal Study

by César Fonseca, Ana Ramos, Lara Guedes Pinho, Bruno Morgado, Henrique Oliveira and Manuel Lopes

J. Pers. Med. 2022, 12(11), 1937; https://doi.org/10.3390/jpm12111937 - 21 Nov 2022

Cited by 5 | Viewed by 1647

Abstract

Background: The success of healthy aging depends on the ability of countries to study and act on frailty in the elderly, control chronic diseases, improve functional capacity and prevent cognitive decline and social interaction. Aim: (1) to evaluate the functional profile of older [...] Read more.

Background: The success of healthy aging depends on the ability of countries to study and act on frailty in the elderly, control chronic diseases, improve functional capacity and prevent cognitive decline and social interaction. Aim: (1) to evaluate the functional profile of older adults hospitalized in a Unit of the National Network of Integrated Continuous Care of Portugal; and (2) to assess the relationship between functional profile and age, gender, level of education and emotional state. Methods: Longitudinal study with a population of 59,013 older adults (65 years or older) hospitalized in Medium-Term Care and Rehabilitation Units in Portugal. Results: Older age (≥85 years), no school attendance, low body mass index and presence of sad or depressed mood were predictive factors for a deficit in functional capacity. We identified significant improvements in rehabilitation, but after 210 days of hospitalization, older people incurred a loss of functionality. Total compensation needs were typified by severe deficits in self-care and functional capacity: 47.1%. A moderate deficit was present in 43.1%, and a slight self-care and functional deficit occurred in 9.8% of the individuals. Conclusions: Knowing the determinants of functional capacity and self-care needs will make it possible to define priority intervention groups and implement quality and financing models based on gains in functionality. Full article

(This article belongs to the Special Issue Advances in Personalized Nursing Care)

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8 pages, 888 KiB

Open AccessArticle

Predictors of Mortality in Bicycle-Related Trauma: An Eight-Year Experience in a Level One Trauma Center

by Elisa Reitano, Stefano Piero Bernardo Cioffi, Francesco Virdis, Michele Altomare, Andrea Spota, Osvaldo Chiara and Stefania Cimbanassi

J. Pers. Med. 2022, 12(11), 1936; https://doi.org/10.3390/jpm12111936 - 21 Nov 2022

Cited by 1 | Viewed by 1465

Abstract

Background: Bicycle-related trauma has increased during the last decades, mainly due to the antipollution environmental policies. This study investigates the outcome of bicycle-related trauma in our level-one trauma center over a period of eight years. Methods: Data from 446 consecutive bicycle-related trauma patients [...] Read more.

Background: Bicycle-related trauma has increased during the last decades, mainly due to the antipollution environmental policies. This study investigates the outcome of bicycle-related trauma in our level-one trauma center over a period of eight years. Methods: Data from 446 consecutive bicycle-related trauma patients admitted to our trauma center from 2011 to 2019 were selected and retrospectively analyzed. The sample was divided into three age groups: <18 years, 18–54 years, and ≥55 years. Mortality rates were obtained for the overall population and patients with an Injury Severity Score (ISS) ≥ 25. Month and seasonal patients’ distribution was described to provide an epidemiological overview of bike-related trauma over the years. Results: Patients ≥ 55 years showed a lower pre-hospital and in-hospital GCS (p ≤ 0.001), higher levels of lactates (p < 0.019) and higher ISS (p ≤ 0.001), probability of death (p ≤ 0.001), and overall mortality (p ≤ 0.001). The head and chest Abbreviated Injury Scale (AIS) ≥ 3 injuries were predictors of mortality, especially in patients over 55 years (p < 0.010). Bicycle-related trauma was more frequent during the summer (34%), particularly in July and August. Conclusions: Age over 55 years old, head and chest injuries, and an ISS > 25 were independent predictors of mortality. Full article

(This article belongs to the Special Issue Personalized Medicine in Acute Care Surgery: Postoperative Complications and Prognosis)

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8 pages, 934 KiB

Open AccessArticle

The Influence of Body Mass Index on Glucocorticoid Insensitivity in Chronic Rhinosinusitis with Nasal Polyps

by Yuling Zhang, Shen Shen, Yating Liu, Zaichuan Wang, Qiqi Wang, Yan Li, Chengshuo Wang, Feng Lan and Luo Zhang

J. Pers. Med. 2022, 12(11), 1935; https://doi.org/10.3390/jpm12111935 - 21 Nov 2022

Cited by 4 | Viewed by 1984

Abstract

Background: Reasons for glucocorticoid (GC) insensitivity in chronic rhinosinusitis with nasal polyps (CRSwNP) are not completely clear. Here, we investigate the influence of body mass index (BMI) on GC insensitivity in eosinophilic CRSwNP (eosCRSwNP) and noneosinophilic CRSwNP (noneosCRSwNP) patients. Methods: We recruited 699 [...] Read more.

Background: Reasons for glucocorticoid (GC) insensitivity in chronic rhinosinusitis with nasal polyps (CRSwNP) are not completely clear. Here, we investigate the influence of body mass index (BMI) on GC insensitivity in eosinophilic CRSwNP (eosCRSwNP) and noneosinophilic CRSwNP (noneosCRSwNP) patients. Methods: We recruited 699 CRSwNP patients and gave them a course of oral methylprednisolone for 2 weeks (24 mg/day). Patient demographics and clinical features were analyzed in both GC-sensitive and GC-insensitive CRSwNP patients with different BMI levels and phenotypes. Results: 35.3% of recruited CRSwNP patients were GC-insensitive, and the majority of GC-insensitive patients were males or prone to overweight & obese. Logistic regression analysis further confirmed that being overweight & obese was an independent risk factor for GC-insensitive of CRSwNP patients (odds ratio = 1.584, p = 0.049). Compared to underweight & normal-weight patients, overweight & obese patients were more likely to be GC insensitivity, particularly in the eosCRSwNP group, but not in the noneosCRSwNP group. However, there was no significant difference between the underweight & normal weight and the overweight & obese GC-insensitive eosCRSwNP patients regarding the number of infiltrated eosinophils, neutrophils, and polyp recurrence rate. Conclusions: Collectively, our findings demonstrate for the first time that BMI contributes to GC insensitivity in eosCRSwNP patients. Full article

(This article belongs to the Section Mechanisms of Diseases)

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7 pages, 430 KiB

Open AccessArticle

Postoperative Inpatient Rehabilitation Does Not Increase Knee Function after Primary Total Knee Arthroplasty

by Dominik Rak, Alexander J. Nedopil, Eric C. Sayre, Bassam A. Masri and Maximilian Rudert

J. Pers. Med. 2022, 12(11), 1934; https://doi.org/10.3390/jpm12111934 - 21 Nov 2022

Cited by 2 | Viewed by 1843

Abstract

Inpatient rehabilitation (IR) is a common postoperative protocol after total knee replacement (TKA). Because IR is expensive and should therefore be justified, this study determined the difference in knee function one year after TKA in patients treated with IR or outpatient rehabilitation, fast-track [...] Read more.

Inpatient rehabilitation (IR) is a common postoperative protocol after total knee replacement (TKA). Because IR is expensive and should therefore be justified, this study determined the difference in knee function one year after TKA in patients treated with IR or outpatient rehabilitation, fast-track rehabilitation (FTR) in particular, which also entails a reduced hospital length of stay. A total of 205 patients were included in this multi-center prospective cohort study. Of the patients, 104 had primary TKA at a German university hospital and received IR, while 101 had primary TKA at a Canadian university hospital and received FTR. Patients receiving IR or FTR were matched by pre-operative demographics and knee function. Oxford Knee Score (OKS), Western Ontario and McMaster Universities Arthritis Index (WOMAC), and EuroQol visual analogue scale (EQ-VAS) determined knee function one year after surgery. Patients receiving IR had a 2.8-point lower improvement in OKS (p = 0.001), a 6.7-point lower improvement in WOMAC (p = 0.063), and a 12.3-point higher improvement in EQ-VAS (p = 0.281) than patients receiving FTR. IR does not provide long-term benefits to patient recovery after primary uncomplicated TKA under the current rehabilitation regime. Full article

(This article belongs to the Special Issue Personalized and Precision Medicine 2022)

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11 pages, 1158 KiB

Open AccessArticle

Complications and Adverse Events of Gonadal Vein Embolization with Coils

by Sergey G. Gavrilov, Nadezhda Y. Mishakina, Oksana I. Efremova and Konstantin V. Kirsanov

J. Pers. Med. 2022, 12(11), 1933; https://doi.org/10.3390/jpm12111933 - 20 Nov 2022

Cited by 7 | Viewed by 3274

Abstract

Background: The efficacy and safety of gonadal vein embolization (GVE) with coils in the treatment of pelvic venous disease (PeVD) has not been fully investigated, and the outcomes after GVE do not always meet expectations of both doctors and patients. The study was [...] Read more.

Background: The efficacy and safety of gonadal vein embolization (GVE) with coils in the treatment of pelvic venous disease (PeVD) has not been fully investigated, and the outcomes after GVE do not always meet expectations of both doctors and patients. The study was aimed at assessing the incidence and causes of the complications after GVE with coils in patients with PeVD. Methods: This retrospective cohort study included 150 female patients with PeVD who underwent GVE with coils in 2000–2020. A total of 4975 patients with chronic pelvic pain (CPP) were examined, of which 1107 patients had the PeVD-related CPP and 305 underwent surgical or endovascular interventions on the gonadal veins. Complication rates were evaluated 30 days after GVE and classified according to the Society for Interventional Radiology (SIR) adverse event classification system. The pain severity before and after GVE was assessed using a visual analogue scale (VAS). All patients underwent duplex ultrasound after GVE, while patients with persisting pain syndrome and suspected perforation of the gonadal vein were also evaluated using computed tomographic venography. Results: At 30 days after GVE, the CPP was decreased in 109 (72.6%) patients (from 8.2 ± 1.5 at baseline to 1.7 ± 0.8 scores, p = 0.0001) and persisted in 41 (27.4%) patients (mean change from 8.1 ± 0.7 at baseline to 7.8 ± 0.4 scores; p = 0.71). Post-embolic syndrome (PES) occurred in 22% of patients and was completely resolved in 1 month after GVE. The efficacy of GVE in the CPP relief after resolving PES was 94.6%. The GVE complications were identified in 52 (34.6%) patients. Minor complications included access-site hematoma (4%) and allergic reactions (1.3%), and major complications included protrusion of coils (5.3%), thrombosis of the parametrial/uterine veins (21.3%) and deep veins of the calf (2.7%). Conclusions: Gonadal vein embolization with coils in the treatment of PeVD is associated with the development of specific complications and adverse events. The most common complication was pelvic vein thrombosis. Post-embolization syndrome should be considered as an adverse event of this procedure. Full article

(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)

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17 pages, 601 KiB

Open AccessFeature PaperReview

Genome-Wide Gene-Set Analysis Approaches in Amyotrophic Lateral Sclerosis

by Christina Vasilopoulou, Stephanie Duguez and William Duddy

J. Pers. Med. 2022, 12(11), 1932; https://doi.org/10.3390/jpm12111932 - 20 Nov 2022

Cited by 2 | Viewed by 2791

Abstract

The rapid increase in the number of genetic variants identified to be associated with Amyotrophic Lateral Sclerosis (ALS) through genome-wide association studies (GWAS) has created an emerging need to understand the functional pathways that are implicated in the pathology of ALS. Gene-set analysis [...] Read more.

The rapid increase in the number of genetic variants identified to be associated with Amyotrophic Lateral Sclerosis (ALS) through genome-wide association studies (GWAS) has created an emerging need to understand the functional pathways that are implicated in the pathology of ALS. Gene-set analysis (GSA) is a powerful method that can provide insight into the associated biological pathways, determining the joint effect of multiple genetic markers. The main contribution of this review is the collection of ALS GSA studies that employ GWAS or individual-based genotype data, investigating their methodology and results related to ALS-associated molecular pathways. Furthermore, the limitations in standard single-gene analyses are summarized, highlighting the power of gene-set analysis, and a brief overview of the statistical properties of gene-set analysis and related concepts is provided. The main aims of this review are to investigate the reproducibility of the collected studies and identify their strengths and limitations, in order to enhance the experimental design and therefore the quality of the results of future studies, deepening our understanding of this devastating disease. Full article

(This article belongs to the Section Mechanisms of Diseases)

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14 pages, 1269 KiB

Open AccessArticle

Early-Stage Oral Tongue Squamous Cell Carcinoma and a Positive Sentinel Lymph Node Biopsy: Description of a Prognostic Correlation between Pre-Treatment Inflammatory Biomarkers, the Depth of Invasion and the Worst Pattern of Invasion

by Giovanni Salzano, Giulia Togo, Francesco Maffia, Luigi Angelo Vaira, Fabio Maglitto, Umberto Committeri, Roberta Fusco, Maria Grazia Maglione, Riccardo Nocini, Pietro De Luca, Agostino Guida, Arianna Di Stadio, Gerardo Ferrara, Luigi Califano and Franco Ionna

J. Pers. Med. 2022, 12(11), 1931; https://doi.org/10.3390/jpm12111931 - 19 Nov 2022

Cited by 1 | Viewed by 2057

Abstract

The aim of this study was to investigate the correlation between pre-treatment inflammatory biomarkers and the post-operative depth of invasion (DOI) and worst pattern of invasion (WPOI) in early-stage oral tongue squamous cell carcinoma (OTSCC) by means of positive sentinel lymph node biopsy [...] Read more.

The aim of this study was to investigate the correlation between pre-treatment inflammatory biomarkers and the post-operative depth of invasion (DOI) and worst pattern of invasion (WPOI) in early-stage oral tongue squamous cell carcinoma (OTSCC) by means of positive sentinel lymph node biopsy (SLNB). A retrospective analysis of patients affected by cN0 T1-T2 OTSCC who had undergone an SLNB at the National Cancer Institute of Naples was performed. The patients were studied using an evaluation of the pre-treatment neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), systemic immune-inflammatory index (SII), and a histopathological analysis of the DOI and WPOI. The statistical analysis showed that among the prognostic biomarkers, the NLR was a significant predictor of high WPOI values (p = 0.002). The cut-off NLR value was 2.52 with a probability of developing a positive sentinel lymph node biopsy (SLNB) of 30.3%. In contrast, the DOI value was 5.20 with a probability of developing a positive SLNB of 31.82%. Regarding the WPOI, increasing the WPOI class increased the likelihood of a positive SLNB occurrence, and a positive significant correlation was found between the WPOI and SLNB (C_sp = 0.342; p < 0.001). Pre-treatment NLR, together with post-surgical DOI and WPOI, can be a reliable predictor of occult neck metastasis in patients affected by early-stage OTSCC with a clinically negative neck. Further prospective studies with a larger series will be needed to confirm the results obtained and to better define the NLR, WPOI and DOI cut-off values in order for elective neck dissection to be recommended in relation to a clinically negative neck. Full article

(This article belongs to the Section Evidence Based Medicine)

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10 pages, 2196 KiB

Open AccessArticle

Automated Machine Learning in Predicting 30-Day Mortality in Patients with Non-Cholestatic Cirrhosis

by Chenyan Yu, Yao Li, Minyue Yin, Jingwen Gao, Liting Xi, Jiaxi Lin, Lu Liu, Huixian Zhang, Airong Wu, Chunfang Xu, Xiaolin Liu, Yue Wang and Jinzhou Zhu

J. Pers. Med. 2022, 12(11), 1930; https://doi.org/10.3390/jpm12111930 - 19 Nov 2022

Cited by 7 | Viewed by 2050

Abstract

Objective: To evaluate the feasibility of automated machine learning (AutoML) in predicting 30-day mortality in non-cholestatic cirrhosis. Methods: A total of 932 cirrhotic patients were included from the First Affiliated Hospital of Soochow University between 2014 and 2020. Participants were divided into training [...] Read more.

Objective: To evaluate the feasibility of automated machine learning (AutoML) in predicting 30-day mortality in non-cholestatic cirrhosis. Methods: A total of 932 cirrhotic patients were included from the First Affiliated Hospital of Soochow University between 2014 and 2020. Participants were divided into training and validation datasets at a ratio of 8.5:1.5. Models were developed on the H₂O AutoML platform in the training dataset, and then were evaluated in the validation dataset by area under receiver operating characteristic curves (AUC). The best AutoML model was interpreted by SHapley Additive exPlanation (SHAP) Plot, Partial Dependence Plots (PDP), and Local Interpretable Model Agnostic Explanation (LIME). Results: The model, based on the extreme gradient boosting (XGBoost) algorithm, performed better (AUC 0.888) than the other AutoML models (logistic regression 0.673, gradient boost machine 0.886, random forest 0.866, deep learning 0.830, stacking 0.850), as well as the existing scorings (the model of end-stage liver disease [MELD] score 0.778, MELD-Na score 0.782, and albumin-bilirubin [ALBI] score 0.662). The most key variable in the XGBoost model was high-density lipoprotein cholesterol, followed by creatinine, white blood cell count, international normalized ratio, etc. Conclusion: The AutoML model based on the XGBoost algorithm presented better performance than the existing scoring systems for predicting 30-day mortality in patients with non-cholestatic cirrhosis. It shows the promise of AutoML in its future medical application. Full article

(This article belongs to the Special Issue Towards Personalized Medicine for Chronic Liver Disease)

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13 pages, 875 KiB

Open AccessArticle

Workforce Considerations When Building a Precision Medicine Program

by Carrie L. Blout Zawatsky, Jennifer R. Leonhard, Megan Bell, Michelle M. Moore, Natasha J. Petry, Dylan M. Platt, Robert C. Green, Catherine Hajek and Kurt D. Christensen

J. Pers. Med. 2022, 12(11), 1929; https://doi.org/10.3390/jpm12111929 - 19 Nov 2022

Cited by 8 | Viewed by 3178

Abstract

This paper describes one healthcare system’s approach to strategically deploying genetic specialists and pharmacists to support the implementation of a precision medicine program. In 2013, Sanford Health initiated the development of a healthcare system-wide precision medicine program. Here, we report the necessary staffing [...] Read more.

This paper describes one healthcare system’s approach to strategically deploying genetic specialists and pharmacists to support the implementation of a precision medicine program. In 2013, Sanford Health initiated the development of a healthcare system-wide precision medicine program. Here, we report the necessary staffing including the genetic counselors, genetic counseling assistants, pharmacists, and geneticists. We examined the administrative and electronic medical records data to summarize genetic referrals over time as well as the uptake and results of an enterprise-wide genetic screening test. Between 2013 and 2020, the number of genetic specialists employed at Sanford Health increased by 190%, from 10.1 full-time equivalents (FTEs) to 29.3 FTEs. Over the same period, referrals from multiple provider types to genetic services increased by 423%, from 1438 referrals to 7517 referrals. Between 2018 and 2020, 11,771 patients received a genetic screening, with 4% identified with potential monogenic medically actionable predisposition (MAP) findings and 95% identified with at least one informative pharmacogenetic result. Of the MAP-positive patients, 85% had completed a session with a genetics provider. A strategic workforce staffing and deployment allowed Sanford Health to manage a new genetic screening program, which prompted a large increase in genetic referrals. This approach can be used as a template for other healthcare systems interested in the development of a precision medicine program. Full article

(This article belongs to the Section Omics/Informatics)

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10 pages, 939 KiB

Open AccessArticle

Characteristics and Trends of COVID-19 Infection in a Tertiary Hospital in Romania: A Retrospective Study

by Isabela Ioana Loghin, Ioana Florina Mihai, Manuel Florin Roşu, Iulia Elena Diaconu, Andrei Vâţă, Radu Popa and Mihaela Cătălina Luca

J. Pers. Med. 2022, 12(11), 1928; https://doi.org/10.3390/jpm12111928 - 18 Nov 2022

Cited by 2 | Viewed by 1626

Abstract

(1) Background: The outbreak of the COVID-19 pandemic represented a real challenge for all of humanity. Characterized by a complex spectrum of signs and symptoms, by various severity degrees, the disease spread rapidly around the world. After more than two and half years [...] Read more.

(1) Background: The outbreak of the COVID-19 pandemic represented a real challenge for all of humanity. Characterized by a complex spectrum of signs and symptoms, by various severity degrees, the disease spread rapidly around the world. After more than two and half years since the beginning of COVID-19 pandemic, in the context of a paradoxical, enigmatic, and relentless COVID-19, the objective of the current study was to evaluate the characteristics and evolution of patients with SARS-CoV-2 infection, hospitalized in “St. Parascheva” Clinical Hospital of Infectious Diseases (Iasi, Romania). (2) Methods: This is a retrospective study that used the medical database recorded between July and November 2021 in order to highlight the characteristics of SARS-CoV-2 infection in patients from the northeastern region of Romania. (3) Results: We enrolled in the study a total of 1732 SARS-CoV-2 infected patients, mean age 67 ± 3.4 years, the female gender predominating (987 cases; 56.98%) as well as patients from the urban environment (982 patients; 56.69%). Moderate form of the disease predominated (814 cases; 47%), pulmonary imaging changes were found in 1042 (60.16%) cases, and 1242 (71.71%) patients had at least one underlying disease. After a median length of hospitalization of 9.5 days, 1359 (78.46%) patients were discharged cured, 48 (2.77%) were transferred to other services by decompensating the associated pathologies, 302 (17.43%) patients needed extensive support in the intensive care unit and there were 325 (18.76%) deaths. (4) Conclusions: The epidemiological characteristics of SARS-CoV-2 infection recorded in our study were mostly the same as characteristics of COVID-19 from all over the world. Full article

(This article belongs to the Collection Advances of Emergency and Intensive Care)

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18 pages, 1432 KiB

Open AccessReview

Pharmacogenomics of Cancer Pain Treatment Outcomes in Asian Populations: A Review

by Shobha Elizabeth Satkunananthan, Vijayaprakash Suppiah, Gaik-Theng Toh and Hui-Yin Yow

J. Pers. Med. 2022, 12(11), 1927; https://doi.org/10.3390/jpm12111927 - 18 Nov 2022

Cited by 3 | Viewed by 2504

Abstract

In advanced cancer, pain is a poor prognostic factor, significantly impacting patients’ quality of life. It has been shown that up to 30% of cancer patients in Southeast Asian countries may receive inadequate analgesia from opioid therapy. This significant under-management of cancer pain [...] Read more.

In advanced cancer, pain is a poor prognostic factor, significantly impacting patients’ quality of life. It has been shown that up to 30% of cancer patients in Southeast Asian countries may receive inadequate analgesia from opioid therapy. This significant under-management of cancer pain is largely due to the inter-individual variability in opioid dosage and relative efficacy of available opioids, leading to unpredictable clinical responses to opioid treatment. Single nucleotide polymorphisms (SNPs) cause the variability in opioid treatment outcomes, yet their association in Asian populations remains unclear. Therefore, this review aimed to evaluate the association of SNPs with variability in opioid treatment responses in Asian populations. A literature search was conducted in Medline and Embase databases and included primary studies investigating the association of SNPs in opioid treatment outcomes, namely pharmacokinetics, opioid dose requirements, and pain control among Asian cancer patients. The results show that CYP2D6*10 has the most clinical relevance in tramadol treatment. Other SNPs such as rs7439366 (UGT2B7), rs1641025 (ABAT) and rs1718125 (P2RX7) though significant have limited pharmacogenetic implications due to insufficient evidence. OPRM1 rs1799971, COMT rs4680 and ABCB1 (rs1045642, rs1128503, and rs2032582) need to be further explored in future for relevance in Asian populations. Full article

(This article belongs to the Section Pharmacogenetics)

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14 pages, 1538 KiB

Open AccessArticle

Combination of Radiomics Features and Functional Radiosensitivity Enhances Prediction of Acute Pulmonary Toxicity in a Prospective Validation Cohort of Patients with a Locally Advanced Lung Cancer Treated with VMAT-Radiotherapy

by Vincent Bourbonne, François Lucia, Vincent Jaouen, Olivier Pradier, Dimitris Visvikis and Ulrike Schick

J. Pers. Med. 2022, 12(11), 1926; https://doi.org/10.3390/jpm12111926 - 18 Nov 2022

Cited by 2 | Viewed by 1466

Abstract

Introduction: The standard of care for people with locally advanced lung cancer (LALC) who cannot be operated on is (chemo)-radiation. Despite the application of dose constraints, acute pulmonary toxicity (APT) still often occurs. Prediction of APT is of paramount importance for the development [...] Read more.

Introduction: The standard of care for people with locally advanced lung cancer (LALC) who cannot be operated on is (chemo)-radiation. Despite the application of dose constraints, acute pulmonary toxicity (APT) still often occurs. Prediction of APT is of paramount importance for the development of innovative therapeutic combinations. The two models were previously individually created. With success, the Rad-model incorporated six radiomics functions. After additional validation in prospective cohorts, a Pmap-model was created by identifying a specific region of the right posterior lung and incorporating several clinical and dosimetric parameters. To create and test a novel model to forecast the risk of APT in two cohorts receiving volumetric arctherapy radiotherapy (VMAT), we aimed to include all the variables in this study. Methods: In the training cohort, we retrospectively included all patients treated by VMAT for LALC at one institution between 2015 and 2018. APT was assessed according to the CTCAE v4.0 scale. Usual clinical and dosimetric features, as well as the mean dose to the pre-defined Pmap zone (DMean_Pmap), were processed using a neural network approach and subsequently validated on an observational prospective cohort. The model was evaluated using the area under the curve (AUC) and balanced accuracy (Bacc). Results: 165 and 42 patients were enrolled in the training and test cohorts, with APT rates of 22.4 and 19.1%, respectively. The AUCs for the Rad and Pmap models in the validation cohort were 0.83 and 0.81, respectively, whereas the AUC for the combined model (Comb-model) was 0.90. The Bacc for the Rad, Pmap, and Comb models in the validation cohort were respectively 78.7, 82.4, and 89.7%. Conclusion: The accuracy of prediction models were increased by combining radiomics, DMean_Pmap, and common clinical and dosimetric features. The use of this model may improve the evaluation of APT risk and provide access to novel therapeutic alternatives, such as dose escalation or creative therapy combinations. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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15 pages, 2057 KiB

Open AccessReview

The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome

by Nicola Montemurro, Luca Ricciardi, Alba Scerrati, Giorgio Ippolito, Giorgio Lofrese, Sokol Trungu and Andrea Stoccoro

J. Pers. Med. 2022, 12(11), 1925; https://doi.org/10.3390/jpm12111925 - 18 Nov 2022

Cited by 7 | Viewed by 2051

Abstract

Background: Adolescent idiopathic scoliosis (AIS), affecting 2–4% of adolescents, is a multifactorial spinal disease. Interactions between genetic and environmental factors can influence disease onset through epigenetic mechanisms, including DNA methylation, histone modifications and miRNA expression. Recent evidence reported that, among all clinical features [...] Read more.

Background: Adolescent idiopathic scoliosis (AIS), affecting 2–4% of adolescents, is a multifactorial spinal disease. Interactions between genetic and environmental factors can influence disease onset through epigenetic mechanisms, including DNA methylation, histone modifications and miRNA expression. Recent evidence reported that, among all clinical features in individuals with 22q11.2 deletion syndrome (DS), scoliosis can occur with a higher incidence than in the general population. Methods: A PubMed and Ovid Medline search was performed for idiopathic scoliosis in the setting of 22q11.2DS and miRNA according to PRISMA guidelines. Results: Four papers, accounting for 2841 individuals, reported clinical data about scoliosis in individuals with 22q11.2DS, showing that approximately 35.1% of the individuals with 22q11.2DS developed scoliosis. Conclusions: 22q11.2DS could be used as a model for the study of AIS. The DGCR8 gene seems to be essential for microRNA biogenesis, which is why we propose that a possible common pathological mechanism between scoliosis and 22q11.2DS could be the dysregulation of microRNA expression. In the current study, we identified two miRNAs that were altered in both 22q11.2DS and AIS, miR-93 and miR-1306, thus, corroborating the hypothesis that the two diseases share common molecular alterations. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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9 pages, 937 KiB

Open AccessArticle

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline

by Makenzie Beaman, Kimberley Fisher, Marie McDonald, Queenie K. G. Tan, David Jackson, Benjamin T. Cocanougher, Andrew P. Landstrom, Charlotte A. Hobbs, Michael Cotten and Jennifer L. Cohen

J. Pers. Med. 2022, 12(11), 1924; https://doi.org/10.3390/jpm12111924 - 18 Nov 2022

Cited by 5 | Viewed by 2795

Abstract

Rapid genome sequencing in critically ill infants is increasingly identified as a crucial test for providing targeted and informed patient care. We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome sequencing with parental samples in [...] Read more.

Rapid genome sequencing in critically ill infants is increasingly identified as a crucial test for providing targeted and informed patient care. We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome sequencing with parental samples in an effort to establish a prompt diagnosis. Our pilot study resulted in a 37.5% diagnostic rate by whole genome sequencing alone and an overall 50% diagnostic rate for the cohort. We describe how the diagnoses led to identification of additional affected relatives and a change in management, the limitations of rapid genome sequencing, and some of the challenges with sample collection. Alongside this pilot study, our site simultaneously established a research protocol pipeline that will allow us to conduct research-based genomic testing in the cases for which a diagnosis was not reached by rapid genome sequencing or other available clinical testing. Here we describe the benefits, limitations, challenges, and potential for rapid whole genome sequencing to be incorporated into routine clinical evaluation in the neonatal period. Full article

(This article belongs to the Special Issue Personalized Medicine: The Future of Health Care)

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12 pages, 1315 KiB

Open AccessSystematic Review

Minced Cartilage Is a One-Step Cartilage Repair Procedure for Small Defects in the Knee—A Systematic-Review and Meta-Analysis

by Andreas Frodl, Markus Siegel, Andreas Fuchs, Ferdinand C. Wagner, Hagen Schmal, Kaywan Izadpanah and Tayfun Yilmaz

J. Pers. Med. 2022, 12(11), 1923; https://doi.org/10.3390/jpm12111923 - 18 Nov 2022

Cited by 7 | Viewed by 3134

Abstract

Purpose: Approximately 60% of patients undergoing arthroscopy of the knee present with chondral defects. If left untreated, osteochondral lesions can trigger an early onset of osteoarthritis. Many cartilage repair techniques are mainly differentiated in techniques aiming for bone marrow stimulation, or cell-based methods. [...] Read more.

Purpose: Approximately 60% of patients undergoing arthroscopy of the knee present with chondral defects. If left untreated, osteochondral lesions can trigger an early onset of osteoarthritis. Many cartilage repair techniques are mainly differentiated in techniques aiming for bone marrow stimulation, or cell-based methods. Cartilage repair can also be categorized in one- and two-stage procedures. Some two-stage procedures come with a high cost for scaffolds, extensive cell-processing, strict regulatory requirements, and limited logistical availability. Minced cartilage, however, is a one-stage procedure delivering promising results in short term follow-up, as noted in recent investigations. However, there is no available literature summarizing or synthesizing clinical data. The purpose of this study was to analyze and synthesize data from the latest literature in a meta-analysis of outcomes after the minced cartilage procedure and to compare its effectiveness to standard repair techniques. Methods: We conducted a systematic review searching the Cochrane, PubMed, and Ovid databases. Inclusion criteria were the modified Coleman methodology Score (mCMS) >60, cartilaginous knee-joint defects, and adult patients. Patient age < 18 years, biomechanical and animal studies were excluded. Relevant articles were reviewed independently by referring to title and abstract. In a systematic review, we compared three studies and 52 patients with a total of 63 lesions. Results: Analysis of Knee Injury and Osteoarthritis Outcome Score (KOOS) sub scores at 12 and 24 months showed a significant score increase in every sub score. Highest mean difference was seen in KOOS sport, lowest in KOOS symptoms (12 month: KOOS sport (Mean difference: 35.35 [28.16, 42.53]; p < 0.0001), lowest in KOOS symptoms (Mean difference: 20.12 [15.43, 24.80]; p < 0.0001)). A comparison of International Knee Documentation Committee (IKDC ) scores visualized a significant score increase for both time points too ((12 month: pooled total mean: 73.00 ± 14.65; Mean difference: 34.33 [26.84, 41.82]; p < 0.00001) (24 month: pooled total mean: 77.64 ± 14.46; mean difference: 35.20 [39.49, 40.92]; p < 0.00001)). Conclusion: Due to no need for separate cell-processing, and thanks to being a one-step procedure, minced cartilage is a promising method for cartilage repair in small defect sizes (mean 2.77 cm², range 1.3–4.7 cm²). However, the most recent evidence is scarce, and takes only results two years post-surgery into account. Summarized, minced cartilage presents nearly equal short-term improvement of clinical scores (IKDC, KOOS) compared to standard cartilage repair techniques. Full article

(This article belongs to the Special Issue Personalized Management in Orthopedics and Traumatology)

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14 pages, 1127 KiB

Open AccessArticle

A Survey of Research Participants’ Privacy-Related Experiences and Willingness to Share Real-World Data with Researchers

by Rachele M. Hendricks-Sturrup, Fang Zhang and Christine Y. Lu

J. Pers. Med. 2022, 12(11), 1922; https://doi.org/10.3390/jpm12111922 - 17 Nov 2022

Cited by 2 | Viewed by 2320

Abstract

Background: Real-world data (RWD) privacy is an increasingly complex topic within the scope of personalized medicine, as it implicates several sources of data. Objective: To assess how privacy-related experiences, when adjusted for age and education level, may shape adult research participants’ willingness to [...] Read more.

Background: Real-world data (RWD) privacy is an increasingly complex topic within the scope of personalized medicine, as it implicates several sources of data. Objective: To assess how privacy-related experiences, when adjusted for age and education level, may shape adult research participants’ willingness to share various sources of real-world data with researchers. Methods: An electronic survey was conducted in April 2021 among adults (≥18 years of age) registered in ResearchMatch, a national health research registry. Descriptive analyses were conducted to assess survey participant demographics. Logistic regression was conducted to assess the association between participants’ five distinct privacy-related experiences and their willingness to share each of the 19 data sources with researchers, adjusting for education level and age range. Results: A total of 598 ResearchMatch adults were contacted and 402 completed the survey. Most respondents were over the age of 51 years (49% total) and held a master’s or bachelor’s degree (63% total). Over half of participants (54%) had their account accessed by someone without their permission. Almost half of participants (49%) reported the privacy of their personal information being violated. Analyses showed that, when adjusted for age range and education level, participants whose reputations were negatively affected as a result of information posted online were more likely to share electronic medical record data (OR = 2.074, 95% CI: 0.986–4.364) and genetic data (OR = 2.302, 95% CI: 0.894–5.93) versus those without this experience. Among participants who had an unpleasant experience as a result of giving out information online, those with some college/associates/trade school compared to those with a doctoral or other terminal degree were significantly more willing to share genetic data (OR = 1.064, 95% CI: 0.396–2.857). Across all privacy-related experiences, participants aged 18 to 30 were significantly more likely than those over 60 years to share music streaming data, ridesharing history data, and voting history data. Additionally, across all privacy-related experiences, those with a high school education were significantly more likely than those with a doctorate or other terminal degree to share credit card statement data. Conclusions: This study offers the first insights into how privacy-related experiences, adjusted for age range and education level, may shape ResearchMatch participants’ willingness to share several sources of real-world data sources with precision medicine researchers. Future work should further explore these insights. Full article

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15 pages, 2505 KiB

Open AccessArticle

Prolonged Maternal Separation Reduces Anxiety State and Increases Compulsive Burying Activity in the Offspring of BALB/c Mice

by Qais Jarrar, Rami Ayoub, Kawther Alhussine, Khang Wen Goh, Said Moshawih, Chrismawan Ardianto, Bey Hing Goh and Long Chiau Ming

J. Pers. Med. 2022, 12(11), 1921; https://doi.org/10.3390/jpm12111921 - 17 Nov 2022

Cited by 11 | Viewed by 2576

Abstract

Background: The elevated plus maze (EPM) and the marble burying (MB) tests are common behavioral tests used for behavioral phenotyping in mouse models for neurodevelopmental disorders. However, the behavioral effects of maternal separation (MS), a standard paradigm for early life stress in animals, [...] Read more.

Background: The elevated plus maze (EPM) and the marble burying (MB) tests are common behavioral tests used for behavioral phenotyping in mouse models for neurodevelopmental disorders. However, the behavioral effects of maternal separation (MS), a standard paradigm for early life stress in animals, in both the EPM and MB tests remain incompletely known. Objectives: This study aimed to investigate the behavioral effects of prolonged MS in the offspring of mice using the EPM and MB tests. Methods: Male BALB/c mice were isolated from their mothers for 4 h each day during the first 30 days after birth. On day 50 postnatal, groups of separated and non-separated mice (n = 18/each group) were subjected to the EPM and MB tests for comparative behavioral evaluations. In addition, the locomotor activity of mice was evaluated using the actophotometer test. Results: The findings of the EPM test revealed that separated mice exhibited anxiolytic-like behaviors, as evidenced by a significant increase in the latency to closed arms and the time spent in the open arms compared with non-separated mice. Separated mice also showed compulsive burying activity in the MB test, as determined by a significant increase in the number of buried marbles. The results of the actophotometer test did not show any significant change in locomotor activity. Conclusions: Prolonged MS caused the adult offspring of mice to exhibit a decrease in anxiety state and increased compulsive burying activity, which were not associated with a change in locomotor activity. Further investigations with validated tests are needed to support these findings. Full article

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12 pages, 762 KiB

Open AccessArticle

Perception about Health Applications (Apps) in Smartphones towards Telemedicine during COVID-19: A Cross-Sectional Study

by Lingala Kalyan Viswanath Reddy, Pallavi Madithati, Bayapa Reddy Narapureddy, Sahithya Ravali Ravula, Sunil Kumar Vaddamanu, Fahad Hussain Alhamoudi, Giuseppe Minervini and Saurabh Chaturvedi

J. Pers. Med. 2022, 12(11), 1920; https://doi.org/10.3390/jpm12111920 - 17 Nov 2022

Cited by 70 | Viewed by 4003

Abstract

Background: The use of health applications (apps) in smartphones increased exponentially during COVID-19. This study was conducted the with the aim to understand the factors that determine the consumer’s perception of health apps in smartphones towards telemedicine during COVID-19 and to test any [...] Read more.

Background: The use of health applications (apps) in smartphones increased exponentially during COVID-19. This study was conducted the with the aim to understand the factors that determine the consumer’s perception of health apps in smartphones towards telemedicine during COVID-19 and to test any relation between these factors and consumers towards Telemedicine in India. Methods: This questionnaire-based cross-sectional study was conducted from July 2021 to December 2021 in India. Out of 600 selected participants, 594 responded and in that 535 valid questionnaires were measured. The questionnaire consists of close-ended responses, with the first part consisting of demographic information, the second part consisting of questions associated with consumers’ perceptions and the third part kept for suggestions and complaints. The questionnaire was distributed using digital platforms via WhatsApp or email. A 5-point Likert scale, ranging from strongly agree’ (5) to strongly disagree (1) was used to record responses. Results: Results revealed a high response rate of 90%. The highest score was obtained for the question assessing the satisfaction of the users towards health apps [1175 = 500 (agree-4) + 675 (Strongly agree-5)]. The interface of the app scored very low, showing disagreement (514) with app functionality, and was the most common disadvantage as perceived by patients. The mean scores of reliabilities and vicinity of health services; efficacy and comprehensive health information; development and improvement of health apps and telemedicine (3.24, 3.18, 3.62, 3.49), respectively, show the difference in attraction existing between groups. There is a strong positive correlation between the variables except for efficacy and comprehensive information about health and Telemedicine (−0.249), development and improvement of health apps, and reliability and vicinity of health services (−0.344) which have a negative correlation. Conclusions: The findings of this survey reveal a positive outlook of health apps toward telemedicine. This research also found a strong forecaster of the consumer’s perception of health apps in smartphones towards telemedicine. In the broad spectrum, the future of health app affiliates for telemedicine is better affected by the consumer’s perception of health app efficacy. This study suggests that health app marketers develop more innovative apps to increase usage and help consumers. Full article

(This article belongs to the Special Issue Digital Health and Telemedicine: Their Contribution to Personalized and Precision Medicine)

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16 pages, 3259 KiB

Open AccessArticle

A Pan-Cancer Atlas of Differentially Interacting Hallmarks of Cancer Proteins

by Medi Kori, Gullu Elif Ozdemir, Kazim Yalcin Arga and Raghu Sinha

J. Pers. Med. 2022, 12(11), 1919; https://doi.org/10.3390/jpm12111919 - 17 Nov 2022

Cited by 5 | Viewed by 2156

Abstract

Cancer hallmark genes and proteins orchestrate and drive carcinogenesis to a large extent, therefore, it is important to study these features in different cancer types to understand the process of tumorigenesis and discover measurable indicators. We performed a pan-cancer analysis to map differentially [...] Read more.

Cancer hallmark genes and proteins orchestrate and drive carcinogenesis to a large extent, therefore, it is important to study these features in different cancer types to understand the process of tumorigenesis and discover measurable indicators. We performed a pan-cancer analysis to map differentially interacting hallmarks of cancer proteins (DIHCP). The TCGA transcriptome data associated with 12 common cancers were analyzed and the differential interactome algorithm was applied to determine DIHCPs and DIHCP-centric modules (i.e., DIHCPs and their interacting partners) that exhibit significant changes in their interaction patterns between the tumor and control phenotypes. The diagnostic and prognostic capabilities of the identified modules were assessed to determine the ability of the modules to function as system biomarkers. In addition, the druggability of the prognostic and diagnostic DIHCPs was investigated. As a result, we found a total of 30 DIHCP-centric modules that showed high diagnostic or prognostic performance in any of the 12 cancer types. Furthermore, from the 16 DIHCP-centric modules examined, 29% of these were druggable. Our study presents candidate systems’ biomarkers that may be valuable for understanding the process of tumorigenesis and improving personalized treatment strategies for various cancers, with a focus on their ten hallmark characteristics. Full article

(This article belongs to the Special Issue Personalized and Precision Medicine 2022)

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12 pages, 994 KiB

Open AccessArticle

Comparative Efficacy of 14-Day Tegoprazan-Based Triple vs. 10-Day Tegoprazan-Based Concomitant Therapy for Helicobacter pylori Eradication

by Chan Hyuk Park, Myung Jin Song, Byung Wook Jung, Jung Ho Park and Yoon Suk Jung

J. Pers. Med. 2022, 12(11), 1918; https://doi.org/10.3390/jpm12111918 - 17 Nov 2022

Cited by 7 | Viewed by 3127

Abstract

Tegoprazan, a novel potassium-competitive acid blocker, is currently available for the treatment of Helicobacter pylori infection. We compared the efficacies of tegoprazan-based triple and concomitant therapies in a real-world practice. Data of patients treated with a 14-day tegoprazan-based triple therapy (50 mg of [...] Read more.

Tegoprazan, a novel potassium-competitive acid blocker, is currently available for the treatment of Helicobacter pylori infection. We compared the efficacies of tegoprazan-based triple and concomitant therapies in a real-world practice. Data of patients treated with a 14-day tegoprazan-based triple therapy (50 mg of tegoprazan + 1000 mg of amoxicillin + 500 mg of clarithromycin twice daily) or 10-day tegoprazan-based concomitant therapy (50 mg of tegoprazan + 1000 mg of amoxicillin + 500 mg of clarithromycin + 500 mg of metronidazole twice daily) were retrospectively reviewed. Primary endpoint was eradication rate in the intention-to-treat (ITT) population. Of the 928 included patients, 551 and 377 were treated with triple and concomitant therapies, respectively. Eradication rate from ITT analysis was 76.4% (95% confidence interval [CI], 72.7–79.8%) in the triple therapy group and 85.9% (95% CI, 82.2–89.2%) in the concomitant therapy group (p < 0.001). Eradication rate in the per-protocol analysis was also higher in the concomitant therapy group than in the triple therapy group (triple vs. concomitant therapy: 84.5% [81.1–87.5%] vs. 91.1% [87.8–93.8%]). Overall adverse event rate was 29.0% in the triple therapy group and 45.9% in the concomitant therapy group (p < 0.001). Adherence rate was similar between the two groups (triple vs. concomitant therapy: 90.0 vs. 92.6%, p = 0.180). Overall, the 10-day tegoprazan-based concomitant therapy had superior efficacy than the 14-day tegoprazan-based triple therapy for H. pylori eradication. Although concomitant therapy showed common adverse events, adherence was comparable between the two therapies. Full article

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6 pages, 1411 KiB

Open AccessCase Report

Use of Autologous Platelet Rich Plasma (A-PRP) for Postpartum Perineal Repair Failure: A Case Report

by Farida Akhoundova, Fanny Schumacher, Marie Léger, Sarah Berndt, Begoña Martinez de Tejada and Jasmine Abdulcadir

J. Pers. Med. 2022, 12(11), 1917; https://doi.org/10.3390/jpm12111917 - 17 Nov 2022

Cited by 2 | Viewed by 2215

Abstract

Perineal wound dehiscence is an uncommon but important postpartum complication. In many cases, it leads to extreme pain and urinary and defecation problems. For up to several weeks, it can interfere with the mother’s daily activity, affecting psychosexual health and body image. The [...] Read more.

Perineal wound dehiscence is an uncommon but important postpartum complication. In many cases, it leads to extreme pain and urinary and defecation problems. For up to several weeks, it can interfere with the mother’s daily activity, affecting psychosexual health and body image. The best way to manage perineal wound breakdown (resuturing vs. spontaneous closure) after childbirth remains controversial. A-PRP is the autologous human plasma containing an increased platelet concentration, rich in growth factors, and mediators with hemostatic, anti-inflammatory, and antimicrobial properties. It accelerates the natural healing process. Even though A-PRP is widely used in orthopedics and dermatology, its use in gynecological injuries is limited. We describe here a case of a woman with postpartum perineal dehiscence treated with A-PRP with positive outcomes. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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13 pages, 1945 KiB

Open AccessArticle

Ventricular and Atrial Remodeling after Transcatheter Edge-to-Edge Repair: A Pilot Study

by Alessandro Albini, Matteo Passiatore, Jacopo Francesco Imberti, Anna Chiara Valenti, Giulio Leo, Marco Vitolo, Francesca Coppi, Fabio Alfredo Sgura and Giuseppe Boriani

J. Pers. Med. 2022, 12(11), 1916; https://doi.org/10.3390/jpm12111916 - 16 Nov 2022

Cited by 4 | Viewed by 1824

Abstract

Background: The aim of this study was to determine the impact of transcatheter edge-to-edge repair (TEER) on left and right ventricular (LV, RV) and left and right atrial (LA, RA) remodeling according to the mechanism of mitral regurgitation (MR) and history of atrial [...] Read more.

Background: The aim of this study was to determine the impact of transcatheter edge-to-edge repair (TEER) on left and right ventricular (LV, RV) and left and right atrial (LA, RA) remodeling according to the mechanism of mitral regurgitation (MR) and history of atrial fibrillation (AF). Methods: Twenty-four patients (mean age 78.54 years ± 7.64 SD; 62.5% males) underwent TEER at our center. All the patients underwent echocardiography 1.6 ± 0.9 months before the procedure and after 5.7 ± 3.5 months; functional MR accounted for 54% of cases. Results: Compared to baseline, a statistically significant improvement in LV end-diastolic diameter (LVEDD), LV indexed mass (ILVM), LV end-diastolic and end-systolic volumes (LVEDV, LVESV), indexed LA volume (iLAV), and morpho-functional RV parameters was recorded. LVEDD and LVEDV improved in primary MR cohort, whereas in secondary MR, a significant reduction in LVEDV and LVESV was found without a significant functional improvement. LA reverse remodeling was found in organic MR with a trend toward ameliorated function. Furthermore, a significant reduction of LA volumetry was detected only in patients without history of AF (AF baseline 51.4 mL/m² IQR 45.6–62.5 mL/m² f-u 48.9 mL/m² IQR 42.9–59.2 mL/m²; p = 0.101; no AF baseline 43.5 mL/m² IQR 34.2–60.5 mL/m² f-u 42.0 mL/m² IQR 32.0–46.2 mL/m²; p = 0.012). As regards right sections, the most relevant reverse remodeling was obtained in patients with functional MR with a baseline poorer RV function and more severe RA and RV dilation. Conclusion: TEER induces reverse remodeling involving both left and right chambers at mid-term follow-up. To deliver a tailored intervention, MR mechanism and history of AF should be considered in view of the impact on remodeling process. Full article

(This article belongs to the Special Issue Diagnosis, Treatment and Prognosis of Cardiovascular Disease)

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8 pages, 417 KiB

Open AccessArticle

Comparison of Glucose Lowering Efficacy of Human GLP-1 Agonist in Taiwan Type 2 Diabetes Patients after Switching from DPP-4 Inhibitor Use or Non-Use

by Chia-Jen Tsai and Cheng-Feng Tsao

J. Pers. Med. 2022, 12(11), 1915; https://doi.org/10.3390/jpm12111915 - 16 Nov 2022

Cited by 2 | Viewed by 2054

Abstract

To determine the efficacy of glucose control in type 2 diabetes patients who switch from dipeptidyl peptidase-4 (DPP-4) inhibitors use or non-use to GLP-1 receptor agonists (GLP-1 RAs). We conducted a cohort study using data from the Chang Gung Research Database. Patients aged [...] Read more.

To determine the efficacy of glucose control in type 2 diabetes patients who switch from dipeptidyl peptidase-4 (DPP-4) inhibitors use or non-use to GLP-1 receptor agonists (GLP-1 RAs). We conducted a cohort study using data from the Chang Gung Research Database. Patients aged ≥18 years using newly initiated GLP-1 RAs between 1 January 2009, and 31 December 2016, were included. Cox proportional hazards models were used to adjust for treatment selection bias. The primary outcome was changes in the glycated hemoglobin (HbA1c) level. The HbA1c level fell substantially after initiating GLP-1 RAs in DPP-4 inhibitor users and nonusers. A mean HbA1c reduction of −0.42% was found in patients who received DPP-4 inhibitors. Those who were DPP-4 inhibitor nonusers had a reduction in HbA1c of −0.99%. The degree of reduction in HbA1c was significantly greater in patients who were DPP-4 inhibitor nonusers (p value < 0.01), compared to the DPP-4 inhibitor users. In routine care, DPP-4 inhibitor nonusers had better efficacy in glucose control than DPP-4 inhibitor users after switching to a GLP-1 agonist. Full article

(This article belongs to the Topic Big Data in Healthcare, Bioinformatics and Precision Medicine)

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18 pages, 2447 KiB

Open AccessReview

Ethical Conundrums in the Application of Artificial Intelligence (AI) in Healthcare—A Scoping Review of Reviews

by Sreenidhi Prakash, Jyotsna Needamangalam Balaji, Ashish Joshi and Krishna Mohan Surapaneni

J. Pers. Med. 2022, 12(11), 1914; https://doi.org/10.3390/jpm12111914 - 16 Nov 2022

Cited by 44 | Viewed by 9762

Abstract

Background: With the availability of extensive health data, artificial intelligence has an inordinate capability to expedite medical explorations and revamp healthcare.Artificial intelligence is set to reform the practice of medicine soon. Despite the mammoth advantages of artificial intelligence in the medical field, there [...] Read more.

Background: With the availability of extensive health data, artificial intelligence has an inordinate capability to expedite medical explorations and revamp healthcare.Artificial intelligence is set to reform the practice of medicine soon. Despite the mammoth advantages of artificial intelligence in the medical field, there exists inconsistency in the ethical and legal framework for the application of AI in healthcare. Although research has been conducted by various medical disciplines investigating the ethical implications of artificial intelligence in the healthcare setting, the literature lacks a holistic approach. Objective: The purpose of this review is to ascertain the ethical concerns of AI applications in healthcare, to identify the knowledge gaps and provide recommendations for an ethical and legal framework. Methodology: Electronic databases Pub Med and Google Scholar were extensively searched based on the search strategy pertaining to the purpose of this review. Further screening of the included articles was done on the grounds of the inclusion and exclusion criteria. Results: The search yielded a total of 1238 articles, out of which 16 articles were identified to be eligible for this review. The selection was strictly based on the inclusion and exclusion criteria mentioned in the manuscript. Conclusion: Artificial intelligence (AI) is an exceedingly puissant technology, with the prospect of advancing medical practice in the years to come. Nevertheless, AI brings with it a colossally abundant number of ethical and legal problems associated with its application in healthcare. There are manifold stakeholders in the legal and ethical issues revolving around AI and medicine. Thus, a multifaceted approach involving policymakers, developers, healthcare providers and patients is crucial to arrive at a feasible solution for mitigating the legal and ethical problems pertaining to AI in healthcare. Full article

(This article belongs to the Topic eHealth and mHealth: Challenges and Prospects)

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9 pages, 981 KiB

Open AccessArticle

Selection of Representative Questionnaire Items from the Asthma Control Test

by Min-Seok Chang, Iseul Yu, Sunmin Park, Ji-Ho Lee, Seok Jeong Lee, Won-Yeon Lee, Suk Joong Yong, Meounggun Jo and Sang-Ha Kim

J. Pers. Med. 2022, 12(11), 1913; https://doi.org/10.3390/jpm12111913 - 16 Nov 2022

Viewed by 1605

Abstract

Asthma is a disease characterized by the appearance of transient or persistent symptoms in response to allergens, viral upper respiratory infections, and cold air. Asthma treatment aims to control, rather than cure, and digital systems can be useful in this regard. However, conventional [...] Read more.

Asthma is a disease characterized by the appearance of transient or persistent symptoms in response to allergens, viral upper respiratory infections, and cold air. Asthma treatment aims to control, rather than cure, and digital systems can be useful in this regard. However, conventional assessment methods for asthma control are not suitable for digital healthcare. Therefore, we aimed to select representative questionnaire items suitable for digitally assessing the asthma control status. We analyzed the Asthma Control Test (ACT) and selected representative items. Throughout the year 2020, ACT results (2019 in total) collected from patients (>18 years old) with a principal diagnosis of asthma were analyzed. Individual questionnaire items were tested using Pearson’s correlation and receiver operating characteristic curves. Of the five questionnaire items, Q1, Q2, Q3, and Q5 yielded significant findings. Among these questionnaires, Q2 was the most descriptive and correlated questionnaire. Q5 was also significant but it was excluded since it was unable to apply to the digital health care system for asthma assessment method. The remaining three questionnaire items were selected and their sensitivity and specificity were assessed. Eight methods were analyzed, and the sum of scores of Q1–Q3 had the highest sensitivity and specificity (97% and 91%, respectively). The results suggested that, instead of the full items of ACT, the sum of Q1–Q3 can be used to assess the asthma control status. These findings will serve as the foundation for developing digital asthma control assessment tools. Full article

(This article belongs to the Topic eHealth and mHealth: Challenges and Prospects)

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7 pages, 520 KiB

Open AccessArticle

Risk and Influence Factors of Fall in Immobilization Period after Arthroscopic Interventions

by Johannes Rüther, Luka Boban, Christoph Paus, Kim Loose, Maximilian Willauschus, Hermann Josef Bail and Michael Millrose

J. Pers. Med. 2022, 12(11), 1912; https://doi.org/10.3390/jpm12111912 - 16 Nov 2022

Viewed by 1794

Abstract

Knee injuries are one of the most common injuries. Falls during the immobilization period can deteriorate the postoperative outcome. The risk factors causing falls after initial injury and the question of whether a rigid orthosis serves as a protective factor remain unclear. The [...] Read more.

Knee injuries are one of the most common injuries. Falls during the immobilization period can deteriorate the postoperative outcome. The risk factors causing falls after initial injury and the question of whether a rigid orthosis serves as a protective factor remain unclear. The primary aim of the study was to record the fall rate in the first six weeks after arthroscopic intervention. The secondary aim was to assess the influences of risk factors and protective factors on these fall ratios. Different scores were examined and compared in the groups ‘fall event’ and ‘no fall’. Data from 51 patients (39 males, 12 females) with a mean age of 31.2 years (19–57 years) were collected. A total of 20 patients suffered at least one fall event within the observation period. A total of 18 of 23 fall events happened within the first three weeks postoperatively. The Extra Short Musculoskeletal Function Assessment Questionnaire (XSMFA) showed a significant difference between the groups (p = 0.02). People with multiple injuries to the knee joint were more likely to suffer fall events. Conclusively, patients with limited knee functions appeared to fall more frequently within the first three weeks postoperatively. Therefore, appropriate measures should be taken to protect the postoperative outcome. Physical therapy and patient behavioural training should be practiced perioperatively in patients at risk. Full article

(This article belongs to the Special Issue Personalized Management in Orthopedics and Traumatology)

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21 pages, 624 KiB

Open AccessEditor’s ChoiceReview

Multimorbidity, Frailty and Diabetes in Older People–Identifying Interrelationships and Outcomes

by Alan J. Sinclair and Ahmed H. Abdelhafiz

J. Pers. Med. 2022, 12(11), 1911; https://doi.org/10.3390/jpm12111911 - 16 Nov 2022

Cited by 18 | Viewed by 3257

Abstract

Multimorbidity and frailty are highly prevalent in older people with diabetes. This high prevalence is likely due to a combination of ageing and diabetes-related complications and other diabetes-associated comorbidities. Both multimorbidity and frailty are associated with a wide range of adverse outcomes in [...] Read more.

Multimorbidity and frailty are highly prevalent in older people with diabetes. This high prevalence is likely due to a combination of ageing and diabetes-related complications and other diabetes-associated comorbidities. Both multimorbidity and frailty are associated with a wide range of adverse outcomes in older people with diabetes, which are proportionally related to the number of morbidities and to the severity of frailty. Although, the multimorbidity pattern or cluster of morbidities that have the most adverse effect are not yet well defined, it appears that mental health disorders enhance the multimorbidity-related adverse outcomes. Therefore, comprehensive diabetes guidelines that incorporate a holistic approach that includes screening and management of mental health disorders such as depression is required. The adverse outcomes predicted by multimorbidity and frailty appear to be similar and include an increased risk of health care utilisation, disability and mortality. The differential effect of one condition on outcomes, independent of the other, still needs future exploration. In addition, prospective clinical trials are required to investigate whether interventions to reduce multimorbidity and frailty both separately and in combination would improve clinical outcomes. Full article

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Open AccessArticle

Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research

by Amy A. Blumling, Cynthia A. Prows, Margaret H. Harr, Wendy K. Chung, Ellen Wright Clayton, Ingrid A. Holm, Georgia L. Wiesner, John J. Connolly, John B. Harley, Hakon Hakonarson, Michelle L. McGowan, Erin M. Miller and Melanie F. Myers

J. Pers. Med. 2022, 12(11), 1910; https://doi.org/10.3390/jpm12111910 - 16 Nov 2022

Cited by 3 | Viewed by 2011

Abstract

Purpose: The electronic Medical Records and Genomics (eMERGE) Phase III study was undertaken to assess clinical utility of returning medically actionable genomic screening results. We assessed pediatric clinical outcomes following return of pathogenic/likely pathogenic (P/LP) variants in autosomal dominant conditions with available effective [...] Read more.

Purpose: The electronic Medical Records and Genomics (eMERGE) Phase III study was undertaken to assess clinical utility of returning medically actionable genomic screening results. We assessed pediatric clinical outcomes following return of pathogenic/likely pathogenic (P/LP) variants in autosomal dominant conditions with available effective interventions. Methods: The two eMERGE III pediatric sites collected outcome data and assessed changes in medical management at 6 and 12 months. Results: We returned P/LP results to 29 participants with outcome data. For 23 of the 29 participants, the P/LP results were previously unknown. Five of the 23 participants were already followed for conditions related to the P/LP variant. Of those receiving novel results and not being followed for the condition related to the P/LP result (n = 18), 14 (77.8%) had a change in healthcare after return of results (RoR). Following RoR, cascade testing of family members occurred for 10 of 23 (43.5%). Conclusions: The most common outcomes post-RoR included imaging/laboratory testing and health behavior recommendations. A change in healthcare was documented in 77.8% of those receiving results by 6 months. Our findings demonstrate how return of genomic screening results impacts healthcare in pediatric populations. Full article

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J. Pers. Med., Volume 12, Issue 11 (November 2022) – 186 articles

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