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J. Pers. Med., Volume 13, Issue 7 (July 2023) – 163 articles

Cover Story (view full-size image): Precision medicine programs aim to utilize novel technologies to identify personalized treatments for children with cancer. Delivering these programs requires interdisciplinary efforts, yet the many groups involved are understudied. This study explored the experiences of a broad range of professionals delivering Australia’s first precision medicine trial for children with poor-prognosis cancer: the PRecISion Medicine for Children with Cancer (PRISM) national clinical trial of the Zero Childhood Cancer Program. We conducted semi-structured interviews with 85 PRISM professionals from eight professional groups, including oncologists, surgeons, clinical research associates, scientists, genetic professionals, pathologists, animal care technicians, and nurses. View this paper
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14 pages, 251 KiB  
Review
Pharmacogenomics and the Management of Mood Disorders—A Review
J. Pers. Med. 2023, 13(7), 1183; https://doi.org/10.3390/jpm13071183 - 24 Jul 2023
Cited by 1 | Viewed by 1347
Abstract
Due to the chronic relapsing nature of mental disorders and increased life expectancy, the societal burden of these non-communicable diseases will increase even further. Treatments for mental disorders, such as depression, are available, but their effect is limited due to patients’ (genetic) heterogeneity, [...] Read more.
Due to the chronic relapsing nature of mental disorders and increased life expectancy, the societal burden of these non-communicable diseases will increase even further. Treatments for mental disorders, such as depression, are available, but their effect is limited due to patients’ (genetic) heterogeneity, low treatment compliance and frequent side effects. In general, only one-third of the patients respond to treatment. Today, medication selection in psychiatry relies on a trial-and-error approach based mainly on physicians’ experience. Pharmacogenetic (PGx) testing can help in this process by determining the person-specific genetic factors that may predict clinical response and side effects associated with genetic variants that impact drug-metabolizing enzymes, drug transporters or drug targets. PGxis a discipline that investigates genetic factors that affect the absorption, metabolism, and transport of drugs, thereby affecting therapy outcome. These genetic factors can, among other things, lead to differences in the activity of enzymes that metabolize drugs. Studies in depressed patients show that genotyping of drug-metabolizing enzymes can increase the effectiveness of treatment, which could benefit millions of patients worldwide. This review highlights these studies, gives recommendations and provides future perspectives on how to proceed with PGx testing. Finally, it is recommended to consider genotyping for CYP2D6 and CYP2C19, when there is an indication (side effects or inefficacy). Full article
17 pages, 3529 KiB  
Article
Early MRI Predictors of Relapse in Primary Central Nervous System Lymphoma Treated with MATRix Immunochemotherapy
J. Pers. Med. 2023, 13(7), 1182; https://doi.org/10.3390/jpm13071182 - 24 Jul 2023
Viewed by 876
Abstract
Primary Central Nervous System Lymphoma (PCNSL) is a highly malignant brain tumour. We investigated dynamic changes in tumour volume and apparent diffusion coefficient (ADC) measurements for predicting outcome following treatment with MATRix chemotherapy in PCNSL. Patients treated with MATRix (n = 38) [...] Read more.
Primary Central Nervous System Lymphoma (PCNSL) is a highly malignant brain tumour. We investigated dynamic changes in tumour volume and apparent diffusion coefficient (ADC) measurements for predicting outcome following treatment with MATRix chemotherapy in PCNSL. Patients treated with MATRix (n = 38) underwent T1 contrast-enhanced (T1CE) and diffusion-weighted imaging (DWI) before treatment, after two cycles and after four cycles of chemotherapy. Response was assessed using the International PCNSL Collaborative Group (IPCG) imaging criteria. ADC histogram parameters and T1CE tumour volumes were compared among response groups, using one-way ANOVA testing. Logistic regression was performed to examine those imaging parameters predictive of response. Response after two cycles of chemotherapy differed from response after four cycles; of the six patients with progressive disease (PD) after four cycles of treatment, two (33%) had demonstrated a partial response (PR) or complete response (CR) after two cycles. ADCmean at baseline, T1CE at baseline and T1CE percentage volume change differed between response groups (0.005 < p < 0.038) and were predictive of MATRix treatment response (area under the curve: 0.672–0.854). Baseline ADC and T1CE metrics are potential biomarkers for risk stratification of PCNSL patients early during remission induction therapy with MATRix. Standard interim response assessment (after two cycles) according to IPCG imaging criteria does not reliably predict early disease progression in the context of a conventional treatment approach. Full article
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24 pages, 9118 KiB  
Article
Validation of Gait Measurements on Short-Distance Walkways Using Azure Kinect DK in Patients Receiving Chronic Hemodialysis
J. Pers. Med. 2023, 13(7), 1181; https://doi.org/10.3390/jpm13071181 - 24 Jul 2023
Viewed by 809
Abstract
Muscle dysfunction, skeletal muscle fibrosis, and disability are associated with weakness in patients with end-stage renal disease. The main purpose of this study was to validate the effectiveness of a proposed system for gait monitoring on short-distance 1.5 m walkways in a dialysis [...] Read more.
Muscle dysfunction, skeletal muscle fibrosis, and disability are associated with weakness in patients with end-stage renal disease. The main purpose of this study was to validate the effectiveness of a proposed system for gait monitoring on short-distance 1.5 m walkways in a dialysis center. Gaits with reduced speed and stride length, long sit-to-stand time (SST), two forward angles, and two unbalanced gait regions are defined in the proposed Kinect v3 gait measurement and analysis system (K3S) and have been considered clinical features in end-stage renal disease (ESRD) associated with poor dialysis outcomes. The stride and pace calibrations of the Kinect v3 system are based on the Zeno Walkway. Its single rating intraclass correlation (ICC) for the stride is 0.990, and its single rating ICC for the pace is 0.920. The SST calibration of Kinect v3 is based on a pressure insole; its single rating ICC for the SST is 0.871. A total of 75 patients on chronic dialysis underwent gait measurement and analysis during walking and weighing actions. After dialysis, patients demonstrated a smaller stride (p < 0.001) and longer SST (p < 0.001). The results demonstrate that patients’ physical fitness was greatly reduced after dialysis. This study ensures patients’ adequate physical gait strength to cope with the dialysis-associated physical exhaustion risk by tracing gait outliers. As decreased stride and pace are associated with an increased risk of falls, further studies are warranted to evaluate the clinical benefits of monitoring gait with the proposed reliable and valid system in order to reduce fall risk in hemodialysis patients. Full article
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14 pages, 3610 KiB  
Article
Influence of the Bile Acid Transporter Genes ABCB4, ABCB8, and ABCB11 and the Farnesoid X Receptor on the Response to Ursodeoxycholic Acid in Patients with Nonalcoholic Steatohepatitis
J. Pers. Med. 2023, 13(7), 1180; https://doi.org/10.3390/jpm13071180 - 24 Jul 2023
Viewed by 969
Abstract
The prevalence of NAFLD and NASH is increasing worldwide, and there is no approved medical treatment until now. Evidence has emerged that interfering with bile acid metabolism may lead to improvement in NASH. In this study, 28 patients with elevated cholestatic liver function [...] Read more.
The prevalence of NAFLD and NASH is increasing worldwide, and there is no approved medical treatment until now. Evidence has emerged that interfering with bile acid metabolism may lead to improvement in NASH. In this study, 28 patients with elevated cholestatic liver function tests (especially GGT) were screened for bile acid gene polymorphisms and treated with UDCA. All patients had a bile acid gene polymorphism in ABCB4 or ABCB11. Treatment with UDCA for 12 months significantly reduced GGT in all patients and ALT in homozygous patients. No difference in fibrosis was observed using FIb-4, NFS, and transient elastography (TE). PNPLA3 and TM6SF2 were the most common NASH-associated polymorphisms, and patients with TM6SF2 showed a significant reduction in GGT and ALT with the administration of UDCA. In conclusion, NASH patients with elevated GGT should be screened for bile acid gene polymorphisms, as UDCA therapy may improve liver function tests. However, no difference in clinical outcomes, such as progression to cirrhosis, has been observed using non-invasive tests (NITs). Full article
(This article belongs to the Special Issue Novel Challenges and Therapeutic Options for Liver Diseases)
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13 pages, 2101 KiB  
Article
Analysis of the Comorbid Course of Chronic Obstructive Pulmonary Disease
J. Pers. Med. 2023, 13(7), 1179; https://doi.org/10.3390/jpm13071179 - 24 Jul 2023
Cited by 1 | Viewed by 920
Abstract
(1) Background. Chronic obstructive pulmonary disease (COPD) has a heterogeneous natural history, manifested both in the variability of clinical features and in association with various comorbid pathologies. Atherosclerotic cardiovascular disease (ASCVD) is of great clinical importance and contributes significantly to the natural history [...] Read more.
(1) Background. Chronic obstructive pulmonary disease (COPD) has a heterogeneous natural history, manifested both in the variability of clinical features and in association with various comorbid pathologies. Atherosclerotic cardiovascular disease (ASCVD) is of great clinical importance and contributes significantly to the natural history and prognosis of COPD. The present study aimed to evaluate the nature of the comorbid course of COPD during a 15-year follow-up. (2) Methods: A total of 170 male COPD patients were included in this study. Spirometry values, symptom severity, presence of risk factors, and comorbidities were considered. Prognostic factors were evaluated using the Kaplan–Meier method. (3) Results: ASCVD was the most common comorbidity and the main cause of death in patients with COPD. Patients with comorbid COPD and ASCVD had more severe dyspnea, higher frequency of COPD exacerbations, and worse survival than patients without ASCVD (p < 0.01). Among patients with COPD, the risk of death from ASCVD was higher in those older than 60 years (OR 3.23, 95% CI [1.72, 6.07]), those with rapidly declining FEV1 (OR 4.35, 95% CI [2.28, 8.30]), those with more than two exacerbations per year (OR 3.21, 95% CI [1.71, 6.11]), and those with a pack year index greater than 30 (OR 2.75, 95% CI [1.38, 5.51]. High Charlson comorbidity index scores in patients with COPD were associated with a more severe disease course, including severity of dyspnea, frequency of exacerbations, and multivariate index scores. A high Charlson comorbidity index score was an adverse prognostic factor. (4) Conclusions: ASCVD influences the course of the disease and is a major cause of mortality in COPD patients. Full article
(This article belongs to the Special Issue Current Challenges and Advances in Chronic Respiratory Diseases)
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9 pages, 623 KiB  
Article
Feasibility and Surgical Outcomes of Hybrid Robotic Single-Site Hysterectomy Compared with Single-Port Access Total Laparoscopic Hysterectomy
by , , and
J. Pers. Med. 2023, 13(7), 1178; https://doi.org/10.3390/jpm13071178 - 24 Jul 2023
Viewed by 827
Abstract
We compared surgical outcomes between single-port access total laparoscopic hysterectomy (SPA-TLH) and hybrid robotic single-site hysterectomy (RSSH), a new technique of combining the benefits of SPA-TLH with RSSH in this study. A total of 64 patients were retrospectively analyzed. They underwent either hybrid [...] Read more.
We compared surgical outcomes between single-port access total laparoscopic hysterectomy (SPA-TLH) and hybrid robotic single-site hysterectomy (RSSH), a new technique of combining the benefits of SPA-TLH with RSSH in this study. A total of 64 patients were retrospectively analyzed. They underwent either hybrid RSSH or SPA-TLH for benign gynecologic disease between December 2018 and August 2021. To assess the feasibility of hybrid RSSH, the clinical characteristics and surgical outcomes were compared between the hybrid RSSH group (n = 29) and the SPA-TLH group (n = 35). All of the surgeries were completed without requiring additional ports or conversion to laparotomy. The surgical outcomes including total operative time, uterine weight, estimated blood loss, hemoglobin changes, length of hospital stay, and postoperative pain scores were not significantly different between the two groups. The colpotomy time, including the detachment of the uterosacral and cardinal ligaments, was shorter in the hybrid RSSH group than in the SPA-TLH group (8.0 min vs. 14.0 min; p = 0.029). However, the vaginal cuff closure time was longer in the hybrid RSSH group than in the SPA-TLH group (15.0 min vs.10.0 min; p = 0.001). No difference was observed with regards to intraoperative and postoperative complications. Hybrid RSSH appears to be a feasible procedure for hysterectomy in patients with benign gynecologic diseases. Full article
(This article belongs to the Section Methodology, Drug and Device Discovery)
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10 pages, 2775 KiB  
Case Report
Transesophageal Echocardiography Guidance to Prevent and Manage Pitfalls from Abdominal Normothermic Regional Perfusion and Optimize Timing during Organ Retrieval from a Donor after Circulatory Death
J. Pers. Med. 2023, 13(7), 1177; https://doi.org/10.3390/jpm13071177 - 24 Jul 2023
Viewed by 890
Abstract
An essential means of collecting more abdominal donor organs is controlled donation after circulatory death (cDCD). The organs are typically preserved during cDCD using the abdominal normothermic regional perfusion (A-NRP) technique to recirculate oxygenated blood flow following cardiac arrest and the withdrawal of [...] Read more.
An essential means of collecting more abdominal donor organs is controlled donation after circulatory death (cDCD). The organs are typically preserved during cDCD using the abdominal normothermic regional perfusion (A-NRP) technique to recirculate oxygenated blood flow following cardiac arrest and the withdrawal of life support. One of the challenges of A-NRP is ensuring the correct vascular devices’ positionings, specifically extracorporeal membrane oxygenation cannulae and aortic balloons, typically achieved through fluoroscopy with or without contrast agents. Here, we present a case report in which transesophageal echocardiography (TEE) helped the transplant team to effectively procure viable abdominal organs from a cDCD donor in the shortest time frame, as minimizing time is one of the most crucial factors in maintaining organ viability. TEE use leads to a more effective and efficient A-NRP procedure with limited complications. In addition, it allows us to observe the circulation of both the thoracic and part of the abdominal organs using one fast exam. This case is the first report describing TEE as a primary guide and useful tool for DCD donors. However, prospective studies are needed to confirm that TEE could be used as standard practice during all DCD organ retrieval procedures. Full article
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16 pages, 1400 KiB  
Review
Immune Biomarkers in Triple-Negative Breast Cancer: Improving the Predictivity of Current Testing Methods
J. Pers. Med. 2023, 13(7), 1176; https://doi.org/10.3390/jpm13071176 - 23 Jul 2023
Cited by 4 | Viewed by 1712
Abstract
Triple-negative breast cancer (TNBC) poses a significant challenge in terms of prognosis and disease recurrence. The limited treatment options and the development of resistance to chemotherapy make it particularly difficult to manage these patients. However, recent research has been shifting its focus towards [...] Read more.
Triple-negative breast cancer (TNBC) poses a significant challenge in terms of prognosis and disease recurrence. The limited treatment options and the development of resistance to chemotherapy make it particularly difficult to manage these patients. However, recent research has been shifting its focus towards biomarker-based approaches for TNBC, with a particular emphasis on the tumor immune landscape. Immune biomarkers in TNBC are now a subject of great interest due to the presence of tumor-infiltrating lymphocytes (TILs) in these tumors. This characteristic often coincides with the presence of PD-L1 expression on both neoplastic cells and immune cells within the tumor microenvironment. Furthermore, a subset of TNBC harbor mismatch repair deficient (dMMR) TNBC, which is frequently accompanied by microsatellite instability (MSI). All of these immune biomarkers hold actionable potential for guiding patient selection in immunotherapy. To fully capitalize on these opportunities, the identification of additional or complementary biomarkers and the implementation of highly customized testing strategies are of paramount importance in TNBC. In this regard, this article aims to provide an overview of the current state of the art in immune-related biomarkers for TNBC. Specifically, it focuses on the various testing methodologies available and sheds light on the immediate future perspectives for patient selection. By delving into the advancements made in understanding the immune landscape of TNBC, this study aims to contribute to the growing body of knowledge in the field. The ultimate goal is to pave the way for the development of more personalized testing strategies, ultimately improving outcomes for TNBC patients. Full article
(This article belongs to the Special Issue Cancer Biomarkers and Therapy)
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15 pages, 904 KiB  
Review
The Role of Matrix Metalloproteinases in Hemorrhagic Transformation in the Treatment of Stroke with Tissue Plasminogen Activator
J. Pers. Med. 2023, 13(7), 1175; https://doi.org/10.3390/jpm13071175 - 23 Jul 2023
Viewed by 1195
Abstract
Ischemic stroke is a leading cause of disability and mortality worldwide. The only approved treatment for ischemic stroke is thrombolytic therapy with tissue plasminogen activator (tPA), though this approach often leads to a severe complication: hemorrhagic transformation (HT). The pathophysiology of HT in [...] Read more.
Ischemic stroke is a leading cause of disability and mortality worldwide. The only approved treatment for ischemic stroke is thrombolytic therapy with tissue plasminogen activator (tPA), though this approach often leads to a severe complication: hemorrhagic transformation (HT). The pathophysiology of HT in response to tPA is complex and not fully understood. However, numerous scientific findings suggest that the enzymatic activity and expression of matrix metalloproteinases (MMPs) in brain tissue play a crucial role. In this review article, we summarize the current knowledge of the functioning of various MMPs at different stages of ischemic stroke development and their association with HT. We also discuss the mechanisms that underlie the effect of tPA on MMPs as the main cause of the adverse effects of thrombolytic therapy. Finally, we describe recent research that aimed to develop new strategies to modulate MMP activity to improve the efficacy of thrombolytic therapy. The ultimate goal is to provide more targeted and personalized treatment options for patients with ischemic stroke to minimize complications and improve clinical outcomes. Full article
(This article belongs to the Special Issue Neurological Diseases: From Molecular Mechanisms to Clinical Practice)
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10 pages, 4587 KiB  
Article
Immune Status of Cervical Lymph Nodes in Head and Neck Cancer—A Surgical Oncology Perspective
J. Pers. Med. 2023, 13(7), 1174; https://doi.org/10.3390/jpm13071174 - 22 Jul 2023
Cited by 1 | Viewed by 1146
Abstract
Neck dissection for cervical lymph node metastasis is an established procedure for head and neck cancer (HNC). However, with the advent of immunotherapy, head and neck surgical oncologists need to rethink removing all lymph nodes, including those with immune function. We investigated the [...] Read more.
Neck dissection for cervical lymph node metastasis is an established procedure for head and neck cancer (HNC). However, with the advent of immunotherapy, head and neck surgical oncologists need to rethink removing all lymph nodes, including those with immune function. We investigated the anti-cancer immune response of the cervical lymph nodes in four patients with human papillomavirus type 16 (HPV16)-positive head and neck squamous cell carcinoma. Using lymphocytes extracted from local, metastatic, and non-metastatic lymph nodes and peripheral blood from these patients, we performed an intracellular flow cytometric cytokine assay using anti-IFNγ and anti-TNF-α monoclonal antibodies to detect HPV16 E6- and E7-specific T cells. HPV status and p16 immunostaining were determined by in situ detection using the HPV RNAscope method and immunohistochemistry. In one case, E6-specific and E7-specific CD8+ T cells were detected in proximal metastatic nodes and distal non-metastatic nodes. This finding suggests that non-metastatic nodes should be preserved for their immune function during neck dissection and that the immune function of non-metastatic lymph nodes is important when administering immunotherapy. In this context, head and neck surgical oncologists treating HNC should consider the place of immunotherapy and neck dissection in the treatment of HNC. Full article
(This article belongs to the Special Issue Head and Neck Cancer—Diagnostics, Prevention and Management)
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16 pages, 1131 KiB  
Article
Characterization and Factors Associated with Poor Asthma Control in Adults with Severe Eosinophilic Asthma
J. Pers. Med. 2023, 13(7), 1173; https://doi.org/10.3390/jpm13071173 - 22 Jul 2023
Cited by 2 | Viewed by 777
Abstract
A study was conducted in 98 adult patients diagnosed with severe eosinophilic asthma (73.5% women, mean age 47.2 years) and followed prospectively for 1 year. The aim of the study was to characterize this population and to identify factors associated with poor prognosis [...] Read more.
A study was conducted in 98 adult patients diagnosed with severe eosinophilic asthma (73.5% women, mean age 47.2 years) and followed prospectively for 1 year. The aim of the study was to characterize this population and to identify factors associated with poor prognosis at 1 year of follow-up. At the initial visit, uncontrolled severe asthma was diagnosed in 87.7% of patients. Allergic sensitization was observed in 81.7% (polysensitization in 17.3%), with clinically significant allergic asthma in 45%. The mean percentage of sputum eosinophils was 4.7% (standard deviation(SD) 6.3%) and the mean (SD) blood eosinophil count 467 (225) cells/µL. Almost half of the patients (48.3%) had sputum eosinophilia (>3% eosinophils). Sputum eosinophils correlated significantly with peripheral eosinophilia (p = 0.004) and, to a lesser extent, with fractional exhaled nitric oxide (FeNO) (p = 0.04). After 1 year, 48 patients (49%) had uncontrolled asthma in all visits, and 50 (51%) had controlled asthma in some visits. Airway obstruction (FEV1 < 80% predicted) was the main reason for uncontrolled asthma. In the multivariate analysis, an obstructive pattern (odds ratio (OR) 7.45, 95% confidence interval (CI) 2.41–23.03, p < 0.0001) and the patient’s age (OR 1.045, 95% CI 1.005–1.086, p = 0.026) were independent predictors of poor asthma control. In adult-onset and long-standing asthma, serum interleukin (IL) IL-17 was higher in the uncontrolled asthma group. This study contributes to characterizing patients with severe eosinophilic asthma in real-world clinical practice. Full article
(This article belongs to the Section Mechanisms of Diseases)
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22 pages, 4892 KiB  
Article
Stability of Multi-Parametric Prostate MRI Radiomic Features to Variations in Segmentation
J. Pers. Med. 2023, 13(7), 1172; https://doi.org/10.3390/jpm13071172 - 22 Jul 2023
Cited by 2 | Viewed by 1065
Abstract
Stability analysis remains a fundamental step in developing a successful imaging biomarker to personalize oncological strategies. This study proposes an in silico contour generation method for simulating segmentation variations to identify stable radiomic features. Ground-truth annotation provided for the whole prostate gland on [...] Read more.
Stability analysis remains a fundamental step in developing a successful imaging biomarker to personalize oncological strategies. This study proposes an in silico contour generation method for simulating segmentation variations to identify stable radiomic features. Ground-truth annotation provided for the whole prostate gland on the multi-parametric MRI sequences (T2w, ADC, and SUB-DCE) were perturbed to mimic segmentation differences observed among human annotators. In total, we generated 15 synthetic contours for a given image-segmentation pair. One thousand two hundred twenty-four unfiltered/filtered radiomic features were extracted applying Pyradiomics, followed by stability assessment using ICC(1,1). Stable features identified in the internal population were then compared with an external population to discover and report robust features. Finally, we also investigated the impact of a wide range of filtering strategies on the stability of features. The percentage of unfiltered (filtered) features that remained robust subjected to segmentation variations were T2w—36% (81%), ADC—36% (94%), and SUB—43% (93%). Our findings suggest that segmentation variations can significantly impact radiomic feature stability but can be mitigated by including pre-filtering strategies as part of the feature extraction pipeline. Full article
(This article belongs to the Special Issue Precision Medicine in Radiomics and Radiogenomics)
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12 pages, 957 KiB  
Review
The Use of Radio and Telemedicine by TMAS Centers in Provision of Medical Care to Seafarers: A Systematic Review
J. Pers. Med. 2023, 13(7), 1171; https://doi.org/10.3390/jpm13071171 - 22 Jul 2023
Viewed by 1235
Abstract
Objective: From medicine via radio to telemedicine, personalized medical care at sea has improved significantly over the years. Currently, very little research has been conducted on telemedicine services and tools at sea. This study aims to review real-time case studies of seafarers’ [...] Read more.
Objective: From medicine via radio to telemedicine, personalized medical care at sea has improved significantly over the years. Currently, very little research has been conducted on telemedicine services and tools at sea. This study aims to review real-time case studies of seafarers’ personalized treatment via telemedical devices published in medical journals. Methods: A literature search was conducted using three libraries such as PubMed (Medline), Cumulative Index to Nursing and Allied Health Literature (CINAHL), BioMed Central, and Google Scholar. The Medical Subject Headings (MeSH) were used for information retrieval and document selection was conducted based on the guidelines of preferred reporting items for systematic reviews and meta-analyses (PRISMA) 2020 flowchart. Selected articles were subjected to quality checks using the Newcastle–Ottawa scale (NOS). Results: The literature search produced 785 papers and documents. The selection was conducted in three stages such as selection, screening, and inclusion. After applying predefined inclusion and exclusion criteria, only three articles on real-time medical assistance with telemedical tools were identified. It is reported that medical attention is delivered to seafarers in real time thanks to advancements in telemedicine, satellite technology, and video conferencing. Conclusions: By improving the quality of medical care and reducing response times for medical emergencies at sea, lives have been saved. There are still several gaps despite these advancements. Medical assistance at sea should therefore be improved to address many of the still unsolved issues. Full article
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17 pages, 1383 KiB  
Review
Chlamydial and Gonococcal Genital Infections: A Narrative Review
J. Pers. Med. 2023, 13(7), 1170; https://doi.org/10.3390/jpm13071170 - 21 Jul 2023
Cited by 1 | Viewed by 1588
Abstract
Sexually transmitted infections (STIs) constitute one of the leading causes of disease burden worldwide, leading to considerable morbidity, mortality, health expenditures, and stigma. Of note are the most common bacterial STIs, chlamydial and gonococcal infections, whose etiological agents are Chlamydia trachomatis (CT) and [...] Read more.
Sexually transmitted infections (STIs) constitute one of the leading causes of disease burden worldwide, leading to considerable morbidity, mortality, health expenditures, and stigma. Of note are the most common bacterial STIs, chlamydial and gonococcal infections, whose etiological agents are Chlamydia trachomatis (CT) and Neisseria gonorrhoeae (NG), respectively. Despite being usually asymptomatic, in some cases these infections can be associated with long-term severe complications, such as pelvic inflammatory disease, chronic pelvic pain, infertility, ectopic pregnancy, and increased risk of other STIs acquisition. As the symptoms, when present, are usually similar in both infections, and in most of the cases these infections co-occur, the dual-test strategy, searching for both pathogens, should be preferred. In line with this, herein we focus on the main aspects of CT and NG infections, the clinical symptoms as well as the appropriate state-of-the-art diagnostic tests and treatment. Cost-effective strategies for controlling CT and NG infections worldwide are addressed. The treatment for both infections is based on antibiotics. However, the continuing global rise in the incidence of these infections, concomitantly with the increased risk of antibiotics resistance, leads to difficulties in their control, particularly in the case of NG infections. We also discuss the potential mechanism of tumorigenesis related to CT infections. The molecular bases of CT and NG infections are addressed, as they should provide clues for control or eradication, through the development of new drugs and/or effective vaccines against these pathogens. Full article
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12 pages, 1902 KiB  
Article
Accuracy of Computed Tomography Angiography for Diagnosing Extracranial Mural Lesions in Patients with Acute Internal Carotid Artery Occlusion: Correlation with Digital Subtraction Angiography
J. Pers. Med. 2023, 13(7), 1169; https://doi.org/10.3390/jpm13071169 - 21 Jul 2023
Viewed by 839
Abstract
Extracranial carotid mural lesions (CML), caused by atherosclerosis or dissection, are frequently observed in acute internal carotid artery (ICA) occlusion, often requiring angioplasty or stenting. This study aimed to assess the diagnostic accuracy of computed tomography angiography (CTA) in differentiating extracranial CML from [...] Read more.
Extracranial carotid mural lesions (CML), caused by atherosclerosis or dissection, are frequently observed in acute internal carotid artery (ICA) occlusion, often requiring angioplasty or stenting. This study aimed to assess the diagnostic accuracy of computed tomography angiography (CTA) in differentiating extracranial CML from thromboembolic etiology in acute ICA occlusion in patients eligible for endovascular treatment. Two neuroradiologists retrospectively studied patients with apparent extracranial ICA occlusion on CTA. Patients were divided into two groups: thromboembolism and CML, based on findings from CTA and digital subtraction angiography (DSA). CTA sensitivity and specificity were calculated using DSA as the gold standard. Occlusive patterns and cervical segment widening were evaluated for atherosclerosis, dissection, and thromboembolism etiologies. CTA had a sensitivity of 84.91% (74.32–95.49%) and a specificity of 95.12% (87.31–100%) in detecting extracranial CML. Atherosclerosis was the most common cause, distinguishable with high accuracy using CTA (p < 0.001). No significant differences were found in occlusive patterns between dissection and thromboembolism (p = 0.568). Cervical segment widening was only observed in dissection cases due to mural hematoma. Conclusions: CTA accurately differentiates extracranial CML from thromboembolic etiology in acute ICA occlusion. The pattern of the occlusion and the artery widening help to establish the location and the etiology of the occlusion. Full article
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11 pages, 1198 KiB  
Review
Surgical Approaches to Pancoast Tumors
J. Pers. Med. 2023, 13(7), 1168; https://doi.org/10.3390/jpm13071168 - 21 Jul 2023
Cited by 1 | Viewed by 1575
Abstract
Pancoast tumors, also defined as superior sulcus tumors, still represent a complex clinical condition requiring high technical surgical skills within more articulated multimodality treatment. The morbidity and mortality rates after Pancoast tumor treatments range from 10 to 55% and 0 to 7%, respectively, [...] Read more.
Pancoast tumors, also defined as superior sulcus tumors, still represent a complex clinical condition requiring high technical surgical skills within more articulated multimodality treatment. The morbidity and mortality rates after Pancoast tumor treatments range from 10 to 55% and 0 to 7%, respectively, and the 5-year survival rate has significantly improved in recent years thanks to the advancement of treatments. Although a multimodality approach combining chemotherapy, radiotherapy, and surgery allows for radical resection and effective local control in the vast majority of patients, many patients cannot receive surgical resection or complete the whole programmed therapeutic regimen. Systemic relapse, particularly cerebral recurrence, still poses a significant issue in this cohort of patients. Surgical resection still plays a pivotal role within the multimodality approach. Here, we focus on surgical approaches to both anterior and posterior Pancoast tumors: the anterior transclavicular approach (Dartevelle); the anterior transmanubrial approach (Grunenwald–Spaggiari); the anterior trap-door approach (Masaoka, Nomori); the posterior approach (Shaw–Paulson); the hemiclamshell approach; and hybrid approaches. Global clinical condition, tumor histology, and long-term perspectives should always be taken into consideration when embarking on such a demanding oncologic scenario. Full article
(This article belongs to the Special Issue Innovative Approaches in Lung Cancer Treatment)
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15 pages, 1483 KiB  
Article
Age-Related Changes in Epilepsy Characteristics and Response to Antiepileptic Treatment in Autism Spectrum Disorders
J. Pers. Med. 2023, 13(7), 1167; https://doi.org/10.3390/jpm13071167 - 21 Jul 2023
Cited by 1 | Viewed by 2637
Abstract
Despite the high prevalence of epilepsy in individuals with autism spectrum disorder (ASD), there is little information regarding whether seizure characteristics and treatment effectiveness change across age. Using an online survey, seizure characteristics, effectiveness of antiepileptic treatments, comorbidities, potential etiologies, and ASD diagnosis [...] Read more.
Despite the high prevalence of epilepsy in individuals with autism spectrum disorder (ASD), there is little information regarding whether seizure characteristics and treatment effectiveness change across age. Using an online survey, seizure characteristics, effectiveness of antiepileptic treatments, comorbidities, potential etiologies, and ASD diagnosis were collected from individuals with ASD and seizures. We previously reported overall general patterns of treatment effectiveness but did not examine the effect of seizure characteristics or age on antiepileptic treatment effectiveness. Such information would improve the personalized medicine approach to the treatment of seizures in ASD. Survey data from 570 individuals with ASD and clinical seizures were analyzed. Seizure severity (seizure/week) decreased with age of onset of seizures, plateauing in adolescence, with a greater reduction in generalized tonic–clonic (GTC) seizures with age. Seizure severity was worse in those with genetic disorders, neurodevelopmental regression (NDR) and poor sleep maintenance. Carbamazepine and oxcarbazepine were reported to be more effective when seizures started in later childhood, while surgery and the Atkins/modified Atkins Diet (A/MAD) were reported to be more effective when seizures started early in life. A/MAD and the ketogenic diet were reported to be more effective in those with NDR. Interestingly, atypical Landau–Kleffner syndrome was associated with mitochondrial dysfunction and NDR, suggesting a novel syndrome. These interesting findings need to be verified in independent, prospectively collected cohorts, but nonetheless, these data provide insights into novel relationships that may assist in a better understanding of epilepsy in ASD and provide insight into personalizing epilepsy care in ASD. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder and Epilepsy)
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7 pages, 814 KiB  
Case Report
Full Endoscopic Treatment for a Fibrosis Complication after Psoas Abscess
J. Pers. Med. 2023, 13(7), 1166; https://doi.org/10.3390/jpm13071166 - 20 Jul 2023
Viewed by 716
Abstract
Background: Psoas abscess is a challenging disease that may sometimes lead to a devastating prognosis. Early diagnosis and treatment are mandatory for better results in their treatments and to avoid complications. Purpose: There is no article regarding a fibrosis treatment of the psoas [...] Read more.
Background: Psoas abscess is a challenging disease that may sometimes lead to a devastating prognosis. Early diagnosis and treatment are mandatory for better results in their treatments and to avoid complications. Purpose: There is no article regarding a fibrosis treatment of the psoas muscle with a psoas abscess that is treated with full endoscopic debridement (FED). Study design: a case report and literature review. Result: we successfully treated this case, who suffered from psoas fibrosis with a clinical and MRI diagnosis, with full endoscopic debridement. Conclusions: FED is a viable alternative to open debridement for this rare complication of a psoas muscle abscess. Full article
(This article belongs to the Special Issue The Path to Personalized Pain Management)
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11 pages, 298 KiB  
Article
The Occurrence of Gluten-Related Antibodies, Sensitization to Selected Food Allergens, and Antibodies against Intrinsic Factor in Adult Patients with Diarrhea-Predominant Irritable Bowel Syndrome
J. Pers. Med. 2023, 13(7), 1165; https://doi.org/10.3390/jpm13071165 - 20 Jul 2023
Viewed by 1002
Abstract
Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. Due to the possible overlap of IBS clinical symptoms with gluten-related diseases, food allergies, and autoimmune gastritis (AIG), the aim of this study was to present the frequency of anti-tissue transglutaminase 2 (TTG2) [...] Read more.
Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. Due to the possible overlap of IBS clinical symptoms with gluten-related diseases, food allergies, and autoimmune gastritis (AIG), the aim of this study was to present the frequency of anti-tissue transglutaminase 2 (TTG2) autoantibodies, anti-deamidated gluten peptide (DGP) antibodies, specific immunoglobulin E antibodies (sIgE) to selected food allergens, and anti-intrinsic factor (IF) autoantibodies in adult patients with diarrhea-predominant IBS (IBS-D). The study involved 244 patients (170 women) aged 18–75 years. The antibodies were measured with the use of multiparametric immunoassays. Elevated antibody concentrations, irrespective of the class of tested antibody, occurred in 44 patients (17.6%), including 11 patients (4.5%) with positive DGP antibodies, four patients (1.6%) with TTG2 autoantibodies, six patients (2.5%) with IF autoantibodies, and 31 patients (12.7%) with sIgE to food allergens. Sensitization to gluten, proteins from cow’s milk, and bovine serum albumin was found in 2.1%, 5.3%, and 9.0% of patients, respectively. Our study showed a high percentage of positive results for the tested antibodies in the IBD-D patients, which indicates the need to perform serological tests for CD, food allergies, and AIG in this group of patients. Full article
(This article belongs to the Special Issue Biomarkers for Inflammatory and Metabolic Disorders)
17 pages, 2450 KiB  
Perspective
The First Exploratory Personalized Medicine Approach to Improve Bariatric Surgery Outcomes Utilizing Psychosocial and Genetic Risk Assessments: Encouraging Clinical Research
J. Pers. Med. 2023, 13(7), 1164; https://doi.org/10.3390/jpm13071164 - 20 Jul 2023
Cited by 2 | Viewed by 1126
Abstract
It is predicted that by 2030, globally, an estimated 2.16 billion adults will be overweight, and 1.12 billion will be obese. This study examined genetic data regarding Reward Deficiency Syndrome (RDS) to evaluate their usefulness in counselling patients undergoing bariatric surgery and gathered [...] Read more.
It is predicted that by 2030, globally, an estimated 2.16 billion adults will be overweight, and 1.12 billion will be obese. This study examined genetic data regarding Reward Deficiency Syndrome (RDS) to evaluate their usefulness in counselling patients undergoing bariatric surgery and gathered preliminary data on the potential use in predicting short term (6-month) weight loss outcomes. Methods: Patients undergoing bariatric surgery (n = 34) were examined for Genetic Addiction Risk Severity (GARS) [measures the presence of risk alleles associated with RDS]; as well as their psychosocial traits (questionnaires). BMI changes and sociodemographic data were abstracted from Electronic Health Records. Results: Subjects showed ∆BMI (M = 10.0 ± 1.05 kg/m2) and a mean % excess weight loss (56 ± 13.8%). In addition, 76% of subjects had GARS scores above seven. The homozygote risk alleles for MAO (rs768062321) and DRD1 (rs4532) showed a 38% and 47% prevalence among the subjects. Of the 11 risk alleles identified by GARS, the DRD4 risk allele (rs1800955), was significantly correlated with change in weight and BMI six months post-surgery. We identified correlations with individual risk alleles and psychosocial trait scores. The COMT risk allele (rs4680) showed a negative correlation with EEI scores (r = −0.4983, p < 0.05) and PSQI scores (r = −0.5482, p < 0.05). The GABRB3 risk allele (rs764926719) correlated positively with EEI (r = 0.6161, p < 0.01) and FCQ scores (r = 0.6373, p < 0.01). The OPRM1 risk allele showed a positive correlation with the DERS score (r = 0.5228, p < 0.05). We also identified correlations between DERS and BMI change (r = 0.61; p < 0.01). Conclusions: These data support the potential benefit of a personalized medicinal approach inclusive of genetic testing and psychosocial trait questionnaires when counselling patients with obesity considering bariatric surgery. Future research will explore epigenetic factors that contribute to outcomes of bariatric surgery. Full article
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11 pages, 783 KiB  
Article
A Validation Study of cT-Categories in the Swedish National Urinary Bladder Cancer Register—Norrland University Hospital
J. Pers. Med. 2023, 13(7), 1163; https://doi.org/10.3390/jpm13071163 - 20 Jul 2023
Viewed by 837
Abstract
Background: In Sweden, all patients with urinary bladder cancer (UBC) are recorded in the Swedish National Register for Urinary Bladder Cancer (SNRUBC). The purpose of this study was to validate the registered clinical tumour categories (cT-categories) in the SNRUBC for Norrland University Hospital, [...] Read more.
Background: In Sweden, all patients with urinary bladder cancer (UBC) are recorded in the Swedish National Register for Urinary Bladder Cancer (SNRUBC). The purpose of this study was to validate the registered clinical tumour categories (cT-categories) in the SNRUBC for Norrland University Hospital, Sweden, from 2009 to 2020, inclusive. Methods: The medical records of all 295 patients who underwent radical cystectomy for the treatment of UBC were reviewed retrospectively. Possible factors impacting the cT-categories were identified. To optimise cT-classification, computed tomography urography of all patients with suspected tumour-associated hydronephrosis (TAH) or suspected tumour in bladder diverticulum (TIBD) were retrospectively reviewed by a radiologist. Discrepancy was tested with a logistic regression model. Results: cT-categories differed in 87 cases (29.5%). Adjusted logistic regression analysis found TIBD and TAH as significant predictors for incorrect registration; OR = 7.71 (p < 0.001), and OR = 17.7, (p < 0.001), respectively. In total, 48 patients (68.6%) with TAH and 12 patients (52.2%) with TIBD showed discrepancy regarding the cT-category. Incorrect registration was mostly observed during the years 2009–2012. Conclusion: The study revealed substantial incorrect registration of cT-categories in SNRUBC. A major part of the misclassifications was related to TAH and TIBD. Registration of these variables in the SNRUBC might be considered to improve correct cT-classification. Full article
(This article belongs to the Special Issue Advances in Treatment of Urinary Bladder Cancer)
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10 pages, 2005 KiB  
Case Report
A Single Intradermal Injection of Autologous Adipose-Tissue-Derived Stem Cells Rejuvenates Aged Skin and Sharpens Double Eyelids
J. Pers. Med. 2023, 13(7), 1162; https://doi.org/10.3390/jpm13071162 - 20 Jul 2023
Viewed by 1266
Abstract
Facial skin aging is the most visible manifestation of aging in the body. In this study, we aimed to rejuvenate aging skin via a one-time intradermal injection of autologous adipose-derived stem cells (ADSCs). Eight patients were enrolled for study. Photographs of patients taken [...] Read more.
Facial skin aging is the most visible manifestation of aging in the body. In this study, we aimed to rejuvenate aging skin via a one-time intradermal injection of autologous adipose-derived stem cells (ADSCs). Eight patients were enrolled for study. Photographs of patients taken immediately before and 1, 3, 6, and 12 months after ADSC injections were comparatively evaluated for visible skin manifestations. ADSCs were cultured from the abdominal-skin-derived subcutaneous fat tissue, and 1 × 108 cultured ADSCs were injected intradermally into the facial skin. Cultured myoblasts were incubated with the supernatant derived from ADSCs, and the effect was evaluated via glucose consumption and lactic acid production in the medium. Eight cases showed the shallowing and disappearance of wrinkles, including those of the glabella, lower eyelids, crow`s feet, and forehead and nasolabial grooves, a month to several months after treatment. Double eyelids became prominent, and facial pores significantly reduced in size. These effects lasted for over one year. Myoblasts cultured in the presence of an ADSC-derived exosome were activated compared to that of ADSCs cultured without supernatant. The result supports the role of muscle in ADSC skin rejuvenation. The present study first reports that a single intradermal administration of cultured ADSCs rejuvenates aged facial skin over the course of one year. Further, patients exhibited definite double eyelids and pore shrinkage, strongly indicating the active involvement of muscle, which was supported by an in vitro study. Our study also suggested the important role of biological factors delivered from injected stem cells, although the detailed mechanism of rejuvenation effects of ADSC skin injection remains to be clarified. Full article
(This article belongs to the Special Issue Stem Cells-Based Approaches in Regenerative Medicine)
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16 pages, 3698 KiB  
Article
Evaluation of microRNA Expression Features in Patients with Various Types of Arterial Damage: Thoracic Aortic Aneurysm and Coronary Atherosclerosis
J. Pers. Med. 2023, 13(7), 1161; https://doi.org/10.3390/jpm13071161 - 20 Jul 2023
Cited by 2 | Viewed by 1024
Abstract
Circulating serum miRNA are increasingly used as biomarkers and potential treatment targets in several clinical scenarios, including cardiovascular diseases. However, the current data on circulating miRNA in thoracic aorta aneurism (TAA) patients are inconclusive. The aim of the present study is to compare [...] Read more.
Circulating serum miRNA are increasingly used as biomarkers and potential treatment targets in several clinical scenarios, including cardiovascular diseases. However, the current data on circulating miRNA in thoracic aorta aneurism (TAA) patients are inconclusive. The aim of the present study is to compare the levels of several circulating miRNA in patients with degenerative TAA, coronary artery disease (CAD), and controls for special profile identification. We have identified several candidates for the role of new biomarkers: miR-143-3p, miR-181-5p, miR-126-3p, miR-126-5p, miR-145-5p, miR-150-5p, and miR-195-5p. Materials and methods: Serum samples of 100 patients were analyzed, including 388 TAA patients scheduled for elective surgery, 67 patients with stable CAD and 17 controls, were used for miRNA isolation and identification. Results: More specific for TAA with very high predictive ability in ROC analysis was an increase in the levels of miR-21-5p, miR-29b-5p, miR-126-5p/-3p, miR-181b-5p, and miR-92a-3p, with the latter microRNA being investigated as a novel potential marker of TAA for the first time. Conclusion: TAA and CAD patients demonstrated a significant increase in the levels of circulating miR-126-5p/-3p, miR-181b-5p, and miR-29b-3p. More specific for TAA with very high predictive ability in ROC analysis was an increase in the levels of miR-21-5p, -29b-5p, -126-5p/-3p, 181b-5p, and -92a-3p, with the latter microRNA being investigated as a potential marker of TAA for the first time. Full article
(This article belongs to the Special Issue Precision Medicine in Coronary Artery Disease)
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14 pages, 2151 KiB  
Article
Randomized Clinical Trial to Evaluate the Efficacy and Tolerability of Nebulized Hyaluronic Acid and Xylitol Based Solution after Septoturbinoplasty
J. Pers. Med. 2023, 13(7), 1160; https://doi.org/10.3390/jpm13071160 - 20 Jul 2023
Viewed by 1114
Abstract
Septoplasty and turbinate surgery are among the most frequent surgical procedures to improve nasal obstruction and quality of life. These procedures usually imply the presence of congestion, secretions, and crusting related to the movement of the instruments during surgery. However, the use of [...] Read more.
Septoplasty and turbinate surgery are among the most frequent surgical procedures to improve nasal obstruction and quality of life. These procedures usually imply the presence of congestion, secretions, and crusting related to the movement of the instruments during surgery. However, the use of nasal lavage may reduce this situation. The addition of Hyaluronic acid or Xylitol offers advantages in these washes. This study was a randomized, double-blind, controlled trial. All patients underwent endoscopic septoplasty with inferior turbinate submucosal resection without posterior nasal packing. SNOT-22, main VAS, NOSE, Modified Lund-Kennedy endoscopic scale, number of crusts and adhesions were quantified before and on the day of the surgery, visit three (seven days), visit four (fourteen days), and visit five (twenty-eight days). Forty-seven patients completed the study, divided into a standard saline arm (group 1, 22 patients) and normal saline plus HA and Xylitol arm (group 2, 27 patients). Both treatment groups improved their quality of life and objective parameters during the four weeks of the study. All patients tolerated the nasal irrigations well, and none discontinued the treatments. The study concludes that nasal washes of Aluneb Isotónico® offer several benefits to patients as a protective and preventative agent. Full article
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12 pages, 555 KiB  
Article
Bari Shoulder Telemedicine Examination Protocol (B-STEP): A Standard Protocol for Personalized Remote Shoulder Examination
J. Pers. Med. 2023, 13(7), 1159; https://doi.org/10.3390/jpm13071159 - 20 Jul 2023
Viewed by 722
Abstract
The COVID-19 pandemic drastically changed many aspects of the traditional functioning of health systems all around the world. In Italy, as reported by the CIO, compared to the previous year, there was a significant reduction in 2020 in overall outpatient activities by up [...] Read more.
The COVID-19 pandemic drastically changed many aspects of the traditional functioning of health systems all around the world. In Italy, as reported by the CIO, compared to the previous year, there was a significant reduction in 2020 in overall outpatient activities by up to 75%. These data support the need for telemedicine, which represents a current challenge and can no longer be postponed in the future. This study aims to elaborate on a possible model for remote shoulder examination based on traditional tests to improve the quality of telemedicine in orthopedic and rehabilitation. Between May 2020 and November 2020, ten orthopedic surgeons individually examined six patients with a known shoulder disorder, both in hospital and via webcam according to the previously shared protocol (B-STEP). According to the 10 observers, completing 100% of the ASES score and at least 87.5% of the Constant score is possible. Shoulder ROM and many specific tests are also reproducible via webcam, but with less sensitivity, according to the subjective opinion of observers. The B-STEP is a useful protocol for the standardization of the objective examination of the shoulder via webcam. Further studies are necessary to determine if the B-STEP protocol is useful for diagnosing pathology in unknown patients and evaluating its sensitivity and specificity for each pathology. Full article
(This article belongs to the Special Issue Personalized Management in Orthopedics and Traumatology)
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8 pages, 998 KiB  
Case Report
Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development
J. Pers. Med. 2023, 13(7), 1158; https://doi.org/10.3390/jpm13071158 - 19 Jul 2023
Viewed by 1153
Abstract
In patients with 46,XY disorders of sex development (DSDs), next-generation sequencing (NGS) has high diagnostic efficiency. One contribution to this diagnostic approach is the possibility of applying reverse phenotyping when a variant in a gene associated with multiple organ hits is found. Our [...] Read more.
In patients with 46,XY disorders of sex development (DSDs), next-generation sequencing (NGS) has high diagnostic efficiency. One contribution to this diagnostic approach is the possibility of applying reverse phenotyping when a variant in a gene associated with multiple organ hits is found. Our aim is to report a case of a patient with 46,XY DSDs in whom the identification of a novel variant in MYRF led to the detection of a clinically inapparent congenital heart defect. A full-term newborn presented with ambiguous genitalia, as follows: a 2 cm phallus, penoscrotal hypospadias, partially fused labioscrotal folds, an anogenital distance of 1.2 cm, and non-palpable gonads. The karyotype was 46,XY, serum testosterone and AMH were low, whereas LH and FSH were high, leading to the diagnosis of dysgenetic DSD. Whole exome sequencing identified a novel, heterozygous, nonsense variant in MYRF, classified as pathogenic according to the ACMG criteria. MYRF encodes a membrane-bound transcriptional factor expressed in several tissues associated with OCUGS syndrome (ophthalmic, cardiac, and urogenital anomalies). In the patient, oriented clinical assessment ruled out ophthalmic defects, but ultrasonography confirmed meso/dextrocardia. We report a novel MYRF variant in a patient with 46,XY DSDs, allowing us to identify a clinically inapparent congenital heart defect by reverse phenotyping. Full article
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16 pages, 2377 KiB  
Article
Prognostic Survival Significance of Signet Ring Cell (SRC) Gastric Cancer: Retrospective Analysis from a Single Western Center
J. Pers. Med. 2023, 13(7), 1157; https://doi.org/10.3390/jpm13071157 - 19 Jul 2023
Viewed by 3682
Abstract
Introduction: Signet ring cell carcinoma accounts for 35% to 45% of all gastric cancer. Despite the acknowledgment of its more aggressive pathological features, various controversies surrounding this topic still exist. Thus, we investigate the clinical pathological characteristics and survival prognostic significance of signet [...] Read more.
Introduction: Signet ring cell carcinoma accounts for 35% to 45% of all gastric cancer. Despite the acknowledgment of its more aggressive pathological features, various controversies surrounding this topic still exist. Thus, we investigate the clinical pathological characteristics and survival prognostic significance of signet ring cell components in patients affected by gastric cancer. Methods: From January 2004 to December 2020, in a retrospective study, we enrolled 404 patients with gastric cancer who were curatively treated in our department. The male-to-female ratio was 249/142, and the median age was 75 (range 37–94). We dichotomized patients into two groups (75 patients vs. 316 patients) based on the signet ring cell presence; according to preoperative, operative, and postoperative characteristics, we performed a univariate and multivariate analysis for overall survival. Results: Signet ring cell carcinoma indicated an increasing incidence trend over the time analyzed. Overall median survival of signet ring cell and non-signet ring cell carcinoma were, respectively, 16 vs. 35 months, p < 0.05. In early gastric cancer, the prognosis of the signet ring cell is better than that of the non-signet ring cell, as opposed to advanced cancer. Among the entire population in the multivariate analysis, the only independent factors were preoperative serum albumin level, complete surgical resection, level of lymphadenectomy, and pathological stage. Recurrence occurred more frequently in patients affected by signet ring cell, but in our data, we could not identify a peculiar site of recurrence. Conclusions: Signet ring cell carcinoma has a specific oncogenetic phenotype and treatment resistance heterogeneity; however, it is not always associated with poor prognosis. According to our results, a radical surgical procedure associated with an adequate lymphadenectomy should be advocated to improve patients survival. Gastric cancer patients with signet ring cell components should draw clinicians’ attention. Full article
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10 pages, 730 KiB  
Article
Ultrasound as a Method for Early Diagnosis of Breast Pathology
J. Pers. Med. 2023, 13(7), 1156; https://doi.org/10.3390/jpm13071156 - 18 Jul 2023
Viewed by 1220
Abstract
Introduction: Ultrasound is a non-invasive, low-cost technique that does not use ionising radiation and provides a “real-time” image, and for these reasons, this method is ideal in several situations. Purpose: To demonstrate breast ultrasound evaluation as a first-line diagnostic method and to evaluate [...] Read more.
Introduction: Ultrasound is a non-invasive, low-cost technique that does not use ionising radiation and provides a “real-time” image, and for these reasons, this method is ideal in several situations. Purpose: To demonstrate breast ultrasound evaluation as a first-line diagnostic method and to evaluate the variation of breast characteristics with age. Material and Methods: A total of 105 women with a mean age of 30 years participated and were divided into three age groups: 18–39, 40–59, and 60–79 years, excluding participants subject to mastectomy. After completing the informed consent, all participants answered personal and sociodemographic questions, such as personal and family history, menstrual cycle, pregnancy, ultrasound, and mammography, among others. They were then submitted to a bilateral breast ultrasound examination. Subsequently, all the images and their data were analysed, and a technical report of the examination was given to all the participants. Results: A total of 105 women with a mean age of 30 years participated, 58 of whom underwent the examination for the first time. In 31, changes (of which only 7 were known) were diagnosed. It was verified that, according to age group, the density of the breast stroma varied; older women have less breast density. Conclusions: Ultrasound is a good method for breast evaluation and can be considered important for the early evaluation of breast pathology and follow-up of the pathology. Full article
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17 pages, 3434 KiB  
Article
Mid-Regional Pro-Adrenomedullin and N-Terminal Pro-B-Type Natriuretic Peptide Measurement: A Multimarker Approach to Diagnosis and Prognosis in Acute Heart Failure
J. Pers. Med. 2023, 13(7), 1155; https://doi.org/10.3390/jpm13071155 - 18 Jul 2023
Cited by 3 | Viewed by 1143
Abstract
Background: Acute heart failure (AHF) is a major cause of hospitalization and mortality worldwide. Early and accurate diagnosis, as well as effective risk stratification, are essential for optimizing clinical management and improving patient outcomes. In this context, biomarkers have gained increasing interest in [...] Read more.
Background: Acute heart failure (AHF) is a major cause of hospitalization and mortality worldwide. Early and accurate diagnosis, as well as effective risk stratification, are essential for optimizing clinical management and improving patient outcomes. In this context, biomarkers have gained increasing interest in recent years as they can provide important diagnostic and prognostic information in patients with AHF. Aim and Methods: The primary objective of the present study was to compare the levels of N-terminal pro-B-type natriuretic peptide (NT-proBNP), mid-regional pro-adrenomedullin (MR-proADM), and C-reactive protein (CRP) between patients diagnosed with acute heart failure (AHF) and those without AHF and sepsis. Furthermore, the study aimed to assess the diagnostic and prognostic value of the use of a multimarker approach in AHF patients. To achieve these objectives, a total of 145 patients with AHF and 127 patients without AHF and sepsis, serving as the control group, were consecutively enrolled in the study. Results: Levels of MR-proADM (median: 2.07; (25th–75th percentiles: 1.40–3.02) vs. 1.11 (0.83–1.71) nmol/L, p < 0.0001), and NT-proBNP (5319 (1691–11,874) vs. 271 (89–931.5) pg/mL, p < 0.0001) were significantly higher in patients with AHF compared to controls, whereas CRP levels did not show significant differences. The mortality rate in the AHF group during in-hospital stay was 12%, and the rate of new re-admission for AHF within 30 days after discharge was 10%. During in-hospital follow-up, Cox regression analyses showed that levels of NT-proBNP > 10,132 pg/mL (hazard ratio (HR) 2.97; 95% confidence interval (CI): 1.13–7.82; p = 0.0284) and levels of MR-proADM > 2.8 nmol/L (HR: 8.57; CI: 2.42–30.28; p = 0.0009) predicted mortality. The combined use of MR-proADM and NT-proBNP provided significant additive predictive value for mortality and new re-admission for AHF at 30 days after discharge. A logistic regression analysis showed that the presence of NT-proBNP pg/mL > 12,973 pg mL and/or MR-proADM > 4.2 nmol/L predicted hospital re-admission within 30 days (OR: 3.23; CI: 1.05–9.91; p = 0.041). Conclusion: The combined assay of MR-proADM and NT-proBNP could be helpful in accurately identifying AHF and in defining prognosis and re-admission for AHF. The complementary use of these biomarkers can provide a useful clinical evaluation of AHF while also orienting clinicians to the pathophysiology underlying heart damage and assisting them in tailoring therapy. Full article
(This article belongs to the Section Disease Biomarker)
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14 pages, 2568 KiB  
Article
Glissonean Pedicle Isolation Focusing on the Laennec’s Capsule for Minimally Invasive Anatomical Liver Resection
J. Pers. Med. 2023, 13(7), 1154; https://doi.org/10.3390/jpm13071154 - 18 Jul 2023
Cited by 2 | Viewed by 1530
Abstract
Background: Inflow control is one of the most important procedures during anatomical liver resection (ALR), and Glissonean pedicle isolation (GPI) is one of the most efficacious methods used in laparoscopic anatomical liver resection (LALR). Recognition of the Laennec’s capsule covering the liver parenchyma [...] Read more.
Background: Inflow control is one of the most important procedures during anatomical liver resection (ALR), and Glissonean pedicle isolation (GPI) is one of the most efficacious methods used in laparoscopic anatomical liver resection (LALR). Recognition of the Laennec’s capsule covering the liver parenchyma is essential for safe and precise GPI. The purpose of this study was to verify identification of the Laennec’s capsule, to confirm the validity of GPI in minimally invasive surgery, and to demonstrate the value of GPI focusing on the Laennec’s capsule using a robotic system that has been developed in recent years. Methods: We used a cadaveric model to simulate the Glissonean pedicle and the surrounding liver parenchyma for pathologic verification of the layers. We performed 60 LALRs and 39 robotic anatomical liver resections (RALRs) using an extrahepatic Glissonean approach, from April 2020 to April 2023, and verified the layers of the specimens removed during LALR and RALR based on pathologic examination. In addition, the surgical outcomes of LALR and RALR were compared. Results: Histologic examination facilitated by Elastica van Gieson staining revealed the presence of Laennec’s capsule covering the liver parenchyma in a cadaveric model. Similar findings were obtained following LALR and RALR, thus confirming that the gap between the Glissonean pedicle and the Laennec’s capsule can be dissected without injury to the parenchyma. The mean GPI time was 32.9 and 27.2 min in LALR and RALR, respectively. The mean blood loss was 289.7 and 131.6 mL in LALR and RALR, respectively. There was no significant difference in the incidence of Clavien–Dindo grade ≥III complications between the two groups. Conclusions: Laennec’s capsule is the most important anatomical landmark in performing a safe and successful extrahepatic GPI. Based on this concept, it is possible for LALR and RALR to develop GPI focusing on the Laennec’s capsule. Furthermore, a robotic system has the potential to increase the safety and decrease the difficulty of this challenging procedure. Full article
(This article belongs to the Special Issue Minimally Invasive Liver Resection)
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