Journal Description
Journal of Personalized Medicine
Journal of Personalized Medicine
is an international, peer-reviewed, open access journal on personalized medicine, published monthly online by MDPI.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, SCIE (Web of Science), PubMed, PMC, Embase, and other databases.
- Journal Rank: JCR - Q2 (Medicine, General & Internal) CiteScore - Q2 (Medicine (miscellaneous))
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 17.8 days after submission; acceptance to publication is undertaken in 2.6 days (median values for papers published in this journal in the second half of 2023).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
Impact Factor:
3.4 (2022);
5-Year Impact Factor:
3.5 (2022)
Latest Articles
Code Stroke Alert: Focus on Emergency Department Time Targets and Impact on Door-to-Needle Time across Day and Night Shifts
J. Pers. Med. 2024, 14(6), 596; https://doi.org/10.3390/jpm14060596 (registering DOI) - 2 Jun 2024
Abstract
Background and objectives: To minimize stroke-related deaths and maximize the likelihood of cerebral reperfusion, medical professionals developed the “code stroke” emergency protocol, which allows for the prompt evaluation of patients with acute ischemic stroke symptoms in pre-hospital care and the emergency department (ED).
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Background and objectives: To minimize stroke-related deaths and maximize the likelihood of cerebral reperfusion, medical professionals developed the “code stroke” emergency protocol, which allows for the prompt evaluation of patients with acute ischemic stroke symptoms in pre-hospital care and the emergency department (ED). This research will outline our experience in implementing the stroke code protocol for acute ischemic stroke patients and its impact on door-to-needle time (DTN) in the ED. Methods: Our study included patients with a “code stroke alert” upon arrival at the emergency department. The final sample of this study consisted of 258 patients eligible for intravenous (IV) thrombolysis with an onset-to-door time < 4.5 h. ED admissions were categorized into two distinct groups: “day shift” (from 8 a.m. to 8 p.m.) (n = 178) and “night shift” (from 8 p.m. to 8 a.m.) (n = 80) groups. Results: An analysis of ED time targets showed an increased median during the day shift for onset-to-ED door time of 310 min (IQR, 190–340 min), for door-to-physician (emergency medicine doctor) time of 5 min (IQR, 3–9 min), for door-to-physician (emergency medicine doctor) time of 5 min (IQR, 3–9 min), and for door-to-physician (neurologist) time of 7 min (IQR, 5–10 min), also during the day shift. During the night shift, an increased median was found for door-to-CT time of 21 min (IQR, 16.75–23 min), for door-to-CT results of 40 min (IQR, 38–43 min), and for door-to-needle time of 57.5 min (IQR, 46.25–60 min). Astonishingly, only 17.83% (n = 46) of these patients received intravenous thrombolysis, and the proportion of patients with thrombolysis was significantly higher during the night shift (p = 0.044). A logistic regression analysis considering the door-to-needle time (minutes) as the dependent variable demonstrated that onset-to-ED time (p < 0.001) and door-to-physician (emergency medicine physicians) time (p = 0.021) are predictors for performing thrombolysis in our study. Conclusions: This study identified higher door-to-CT and door-to-emergency medicine physician times associated with an increased DTN, highlighting further opportunities to improve acute stroke care in the emergency department. Further, door-to-CT and door-to-CT results showed statistically significant increases during the night shift.
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(This article belongs to the Special Issue Emergency Medicine: Clinical Advances and Challenges in Diagnosis and Treatment, 2nd Edition)
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A Study on the Effects of a Self-Administered Eye Exercise Program on the Balance and Gait Ability of Chronic Stroke Patients: A Randomized Controlled Trial
by
Chung-Hyun Son, Geon-Woo Sim and Kyoung Kim
J. Pers. Med. 2024, 14(6), 595; https://doi.org/10.3390/jpm14060595 (registering DOI) - 2 Jun 2024
Abstract
This study investigates the effects of a self-administered eye exercise (SEE) program on the balance and gait ability of chronic stroke patients hospitalized due to hemiplegia. This study includes 42 patients diagnosed with stroke-related hemiplegia and hospitalized at D Rehabilitation Hospital. The researcher
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This study investigates the effects of a self-administered eye exercise (SEE) program on the balance and gait ability of chronic stroke patients hospitalized due to hemiplegia. This study includes 42 patients diagnosed with stroke-related hemiplegia and hospitalized at D Rehabilitation Hospital. The researcher randomly allocated 42 patients into two groups: the experimental group (EG, n = 21, mean age = 58.14 ± 7.69 years, mean BMI = 22.83 ± 2.19 kg/m2) and the control group (CG, n = 21, mean age = 58.57 ± 6.53 years, mean BMI = 22.81 ± 2.36 kg/m2). The SEE program was applied to the EG and the general self-administered exercise (SE) program was applied to the CG. After 4 weeks of intervention, weight distribution of the affected side, the Timed Up and Go test (TUG), step length of the affected side, step length of the unaffected side, gait speed, and cadence were analyzed and compared. In the within-group comparison, both groups showed significant differences in weight distribution (p < 0.05), TUG (p < 0.05), step length of the affected side (p < 0.05), step length of the unaffected side (p < 0.05), gait speed (p < 0.05), and cadence (p < 0.05). In the between-group comparison, a significant difference in the TUG (p < 0.05) was observed. The SEE program had an overall similar effect to the SE program in improving the balance and gait ability of chronic stroke patients, and had a greater effect on dynamic balance ability. Therefore, the SEE program can be proposed as a self-administered exercise program to improve balance and gait ability in stroke patients who are too weak to perform the SE program in a clinical environment or have a high risk of falling.
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(This article belongs to the Section Methodology, Drug and Device Discovery)
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Open AccessArticle
Intraoperative Oxygen Consumption and Postoperative Immune Response in Colorectal Oncological Surgery: A Prospective, Monocentric Pilot Study
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Robert Ivascu, Madalina Dutu, Sandica Bucurica, Dan Corneci and Cornelia Nitipir
J. Pers. Med. 2024, 14(6), 594; https://doi.org/10.3390/jpm14060594 (registering DOI) - 1 Jun 2024
Abstract
Surgical resection is the key treatment for colorectal cancer, but the extent of surgical trauma has been implied as a key factor for the oncologic outcome. The immune stress response to surgical trauma generates a cascade of immunological events implying neutrophils’ perioperative change
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Surgical resection is the key treatment for colorectal cancer, but the extent of surgical trauma has been implied as a key factor for the oncologic outcome. The immune stress response to surgical trauma generates a cascade of immunological events implying neutrophils’ perioperative change generating NETosis, N killer decrease, and platelets’ activation that may influence postoperative surgical outcome, tumor cell growth, and future oncogenesis. The present study aimed to investigate the correlation between intraoperative oxygen consumption (VO2) and the dynamic variation of neutrophils, lymphocytes, and platelets in the perioperative period to identify an intraoperative tool that could predict the postoperative immune response. Twenty-six colorectal oncological surgical patients were enrolled in an observational, prospective, monocentric study, over 18 months. Serum neutrophils, lymphocytes, and thrombocytes values were collected in the preoperative period and on the third postoperative day, oxygen consumption was measured and recorded every 15 min during surgery using indirect calorimetry. We compared oxygen consumption measurements registered 30 min after induction of anesthesia (VO2a) and the first value registered after abdominal wall closure (VO2b) to perioperative variation of absolute neutrophils (VNC), lymphocytes (VLC), and platelets (VPC) count. Our results proved a significant correlation between VO2 variation and neutrophils’ perioperative dynamic assessed by VNC (correlation coefficient = 0.547, p < 0.01, 95% confidence interval (CI) =0.175, 0.783). We also noticed a correlation between VPC and VO2 (correlation coefficient = −0.603, p < 0.01, 95% CI = −0.815, −0.248). No correlation could be shown between VO2 and VLC variation (p = 0.39). In conclusion, intraoperative VO2 variation measured by indirect calorimetry correlates well with perioperative neutrophils and platelets count dynamic variations and can be used as an early prognosis marker of postoperative immune response and surgical outcome in colorectal oncological surgery.
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(This article belongs to the Section Methodology, Drug and Device Discovery)
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Open AccessArticle
Perspectives on Clinical Adoption Barriers to Blood-Based Multi-Cancer Early Detection Tests across Stakeholders
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Monica M. Schroll, Elissa Quinn, Daryl Pritchard, Allina Chang, Kristen Garner Amanti, Omar Perez, Arushi Agarwal and Gary Gustavsen
J. Pers. Med. 2024, 14(6), 593; https://doi.org/10.3390/jpm14060593 (registering DOI) - 1 Jun 2024
Abstract
Current United States Preventive Services Task Force (USPSTF) recommendations include routine screening for breast, cervical, colorectal, and lung cancer; however, two out of every three cancer cases occur in other indications, leading to diagnoses in advanced stages of the disease and a higher
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Current United States Preventive Services Task Force (USPSTF) recommendations include routine screening for breast, cervical, colorectal, and lung cancer; however, two out of every three cancer cases occur in other indications, leading to diagnoses in advanced stages of the disease and a higher likelihood of mortality. Blood-based multi-cancer early detection (MCED) tests can impact cancer screening and early detection by monitoring for multiple different cancer types at once, including indications where screening is not performed routinely today. We conducted a survey amongst healthcare providers (HCPs), payers, and patients within the U.S. health system to understand the current utilization of cancer screening tests and the anticipated barriers to widespread adoption of blood-based MCED tests. The results indicated that the community favors the adoption of blood-based MCED tests and that there is broad agreement on the value proposition. Despite this recognition, the survey highlighted that there is limited use today due to the perceived lack of clinical accuracy and utility data, high out-of-pocket patient costs, and lack of payer coverage. To overcome the hurdles for future widespread adoption of blood-based MCED tests, increased investment in data generation, education, and implementation of logistical support for HCPs will be critical.
Full article
(This article belongs to the Section Disease Biomarker)
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The Characterization of Normal Male and Female Voice from Surface Electromyographic Parameters
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Clara Puig-Herreros, José Luis Sanz, Luz Barona-Lleó, Leopoldo Forner and Vicent Rosell-Clari
J. Pers. Med. 2024, 14(6), 592; https://doi.org/10.3390/jpm14060592 (registering DOI) - 1 Jun 2024
Abstract
Currently, there is no consensus on the characterization of the human voice. The objective of the present study is to describe the myoelectric behavior of the extrinsic musculature of the larynx in 146 people with normal voice (Spanish speakers), aged between 20 and
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Currently, there is no consensus on the characterization of the human voice. The objective of the present study is to describe the myoelectric behavior of the extrinsic musculature of the larynx in 146 people with normal voice (Spanish speakers), aged between 20 and 50 years old. Different vocal tasks were recorded using a surface electromyograph (SEMG). In all vocal tasks, it was observed that women had higher activation (µV) in the suprahyoid and sternocleidomastoid muscles than men, while men had higher activation in the infrahyoid muscles. SEMG is a valid procedure to help define normal vocal characteristics in the studied population, providing reference values during clinical examination. However, it is necessary to adopt a universal system of assessment tasks and standardized measurement techniques to allow for comparisons with future studies.
Full article
(This article belongs to the Special Issue Personalized Medicine for Otolaryngology (ENT))
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Long-Term Prognostic Impact of Stress Hyperglycemia in Non-Diabetic Patients Treated with Successful Primary Percutaneous Coronary Intervention
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Lidija Savic, Igor Mrdovic, Milika Asanin, Sanja Stankovic, Ratko Lasica, Gordana Krljanac, Damjan Simic and Dragan Matic
J. Pers. Med. 2024, 14(6), 591; https://doi.org/10.3390/jpm14060591 - 31 May 2024
Abstract
Background: stress hyperglicemia (SH) is common in patients with ST-elevation myocardial infraction (STEMI). The aims of this study were to analyze the impact of SH on the incidence of all-cause mortality and major adverse cardiovascular events (MACE-cardiovascular death, nonfatal reinfarction, target vessel revascularization,
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Background: stress hyperglicemia (SH) is common in patients with ST-elevation myocardial infraction (STEMI). The aims of this study were to analyze the impact of SH on the incidence of all-cause mortality and major adverse cardiovascular events (MACE-cardiovascular death, nonfatal reinfarction, target vessel revascularization, and stroke) in STEMI patients without diabetes mellitus (DM) who have been treated successfully with primary PCI (pPCI). Method: we analyzed 2362 STEMI patients treated with successful pPCI (post-procedural flow TIMI = 3) and without DM and cardiogenic shock at admission. Stress hyperglycemia was defined as plasma glucose level above 7.8 mmol/L at admission. The follow-up period was 8 years. Results: incidence of SH was 26.9%. Eight-year all-cause mortality and MACE rates were significantly higher in patients with SH, as compared to patients without SH (9.7% vs. 4.2%, p < 0.001, and 15.7% vs. 9.4%, p < 0.001). SH was an independent predictor of short- and long-term all-cause mortality (HR 2.19, 95%CI 1.16–4.18, and HR 1.99, 95%CI 1.03–3.85) and MACE (HR 1.49, 95%CI 1.03–2.03, and HR 1.35, 95%CI 1.03–1.89). Conclusion: despite successful revascularization, SH at admission was an independent predictor of short-term and long-term (up to eight years) all-cause mortality and MACE, but its negative prognostic impact was stronger in short-term follow-up.
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(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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Open AccessReview
Drinking from the Holy Grail—Does a Perfect Triage System Exist? And Where to Look for It?
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Anna Ingielewicz, Piotr Rychlik and Mariusz Sieminski
J. Pers. Med. 2024, 14(6), 590; https://doi.org/10.3390/jpm14060590 - 31 May 2024
Abstract
The Emergency Department (ED) is a facility meant to treat patients in need of medical assistance. The choice of triage system hugely impactsed the organization of any given ED and it is important to analyze them for their effectiveness. The goal of this
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The Emergency Department (ED) is a facility meant to treat patients in need of medical assistance. The choice of triage system hugely impactsed the organization of any given ED and it is important to analyze them for their effectiveness. The goal of this review is to briefly describe selected triage systems in an attempt to find the perfect one. Papers published in PubMed from 1990 to 2022 were reviewed. The following terms were used for comparison: “ED” and “triage system”. The papers contained data on the design and function of the triage system, its validation, and its performance. After studies comparing the distinct means of patient selection were reviewed, they were meant to be classified as either flawed or non-ideal. The validity of all the comparable segregation systems was similar. A possible solution would be to search for a new, measurable parameter for a more accurate risk estimation, which could be a game changer in terms of triage assessment. The dynamic development of artificial intelligence (AI) technologies has recently been observed. The authors of this study believe that the future segregation system should be a combination of the experience and intuition of trained healthcare professionals and modern technology (artificial intelligence).
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(This article belongs to the Special Issue Emergency Medicine: Clinical Advances and Challenges in Diagnosis and Treatment, 2nd Edition)
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Robotic Total Knee Arthroplasty: An Update
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Gennaro Pipino, Alessio Giai Via, Marco Ratano, Marco Spoliti, Riccardo Maria Lanzetti and Francesco Oliva
J. Pers. Med. 2024, 14(6), 589; https://doi.org/10.3390/jpm14060589 - 30 May 2024
Abstract
Total knee arthroplasty (TKA) is a gold standard surgical procedure to improve pain and restore function in patients affected by moderate-to-severe severe gonarthrosis refractory to conservative treatments. Indeed, millions of these procedures are conducted yearly worldwide, with their number expected to increase in
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Total knee arthroplasty (TKA) is a gold standard surgical procedure to improve pain and restore function in patients affected by moderate-to-severe severe gonarthrosis refractory to conservative treatments. Indeed, millions of these procedures are conducted yearly worldwide, with their number expected to increase in an ageing and more demanding population. Despite the progress that has been made in optimizing surgical techniques, prosthetic designs, and durability, up to 20% of patients are dissatisfied by the procedure or still report knee pain. From this perspective, the introduction of robotic TKA (R-TKA) in the late 1990s represented a valuable instrument in performing more accurate bone cuts and improving clinical outcomes. On the other hand, prolonged operative time, increased complications, and high costs of the devices slow down the diffusion of R-TKA. The advent of newer technological devices, including those using navigation systems, has made robotic surgery in the operatory room more common since the last decade. At present, many different robots are available, representing promising solutions to avoid persistent knee pain after TKA. We hereby describe their functionality, analyze potential benefits, and hint at future perspectives in this promising field.
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(This article belongs to the Special Issue New Trends for Arthroplasty in Personalized Treatment)
Open AccessArticle
Effects of Biodanza® SRT on Motor, Cognitive, and Behavioral Symptoms in Patients with Parkinson’s Disease: A Randomized Controlled Study
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Carmine Vitale, Roberta Rosa, Valeria Agosti, Mattia Siciliano, Giuseppe Barra, Gianpaolo Maggi and Gabriella Santangelo
J. Pers. Med. 2024, 14(6), 588; https://doi.org/10.3390/jpm14060588 - 30 May 2024
Abstract
Rolando Toro’s Biodanza (SRT) is a therapeutic strategy that uses movement, music, and emotions to induce integrative living experiences. The present study aims to explore the efficacy of a three-month SRT intervention on motor, cognitive, and behavioral symptoms in patients with Parkinson’s disease
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Rolando Toro’s Biodanza (SRT) is a therapeutic strategy that uses movement, music, and emotions to induce integrative living experiences. The present study aims to explore the efficacy of a three-month SRT intervention on motor, cognitive, and behavioral symptoms in patients with Parkinson’s disease (PD). This study employed a randomized between-group design. Twenty-eight non-demented PD patients were enrolled in this study. Out of these, fourteen patients were assigned to the active treatment group using the Biodanza SRT system and fourteen to the untreated control group. The study group attended 2 h SRT classes once a week, completing twelve lessons in twelve weeks. All patients underwent: (i) a neurological examination to measure the severity of motor symptoms, balance, mobility, and risk of falls, and (ii) a neuropsychological battery to assess cognitive status, apathy, depressive symptomatology, and perceived quality of life (QoL), at study entry (T0) and at twelve weeks (T1, end of dance training). At T1, we observed a significant improvement in motor (i.e., severity of motor symptoms and balance) and cognitive parameters (i.e., working memory and delayed verbal memory) in all treated patients compared with the controls. Furthermore, a significant improvement in the social support dimension was found in all treated patients compared to the controls. A trend toward increased apathy was found in untreated patients at T1. The three-month Biodanza intervention significantly ameliorated the motor parameters of PD patients, with a parallel improvement in cognitive and QoL status. Hence, Biodanza intervention can, in the short term, represent a useful personalized medical intervention for the management of Parkinson’s disease.
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(This article belongs to the Section Personalized Therapy and Drug Delivery)
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Internal and External Validation of Machine Learning Models for Predicting Acute Kidney Injury Following Non-Cardiac Surgery Using Open Datasets
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Sang-Wook Lee, Jaewon Jang, Woo-Young Seo, Donghee Lee and Sung-Hoon Kim
J. Pers. Med. 2024, 14(6), 587; https://doi.org/10.3390/jpm14060587 - 30 May 2024
Abstract
This study developed and validated a machine learning model to accurately predict acute kidney injury (AKI) after non-cardiac surgery, aiming to improve patient outcomes by assessing its clinical feasibility and generalizability. We conducted a retrospective cohort study using data from 76,032 adults who
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This study developed and validated a machine learning model to accurately predict acute kidney injury (AKI) after non-cardiac surgery, aiming to improve patient outcomes by assessing its clinical feasibility and generalizability. We conducted a retrospective cohort study using data from 76,032 adults who underwent non-cardiac surgery at a single tertiary medical center between March 2019 and February 2021, and used data from 5512 patients from the VitalDB open dataset for external model validation. The predictive variables for model training consisted of demographic, preoperative laboratory, and intraoperative data, including calculated statistical values such as the minimum, maximum, and mean intraoperative blood pressure. When predicting postoperative AKI, our gradient boosting machine model incorporating all the variables achieved the best results, with AUROC values of 0.868 and 0.757 for the internal and external validations using the VitalDB dataset, respectively. The model using intraoperative data performed best in internal validation, while the model with preoperative data excelled in external validation. In this study, we developed a predictive model for postoperative AKI in adult patients undergoing non-cardiac surgery using preoperative and intraoperative data, and external validation demonstrated the efficacy of open datasets for generalization in medical artificial modeling research.
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(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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Shoulder Dystocia: A Comprehensive Literature Review on Diagnosis, Prevention, Complications, Prognosis, and Management
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Panagiotis Tsikouras, Sonia Kotanidou, Konstantinos Nikolettos, Nektaria Kritsotaki, Anastasia Bothou, Sotiris Andreou, Theopi Nalmpanti, Kyriaki Chalkia, Vlassios Spanakis, Panagiotis Peitsidis, George Iatrakis and Nikolaos Nikolettos
J. Pers. Med. 2024, 14(6), 586; https://doi.org/10.3390/jpm14060586 - 30 May 2024
Abstract
The term dystocia refers to labor characterized by a slow progression with delayed rates or even pauses in the dilation of the cervix or the descent of the fetus. Dystocia describes the deviation from the limits that define a normal birth and is
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The term dystocia refers to labor characterized by a slow progression with delayed rates or even pauses in the dilation of the cervix or the descent of the fetus. Dystocia describes the deviation from the limits that define a normal birth and is often used as a synonym for the term pathological birth. Shoulder dystocia, also known as the manual exit of the shoulders during vaginal delivery on cephalic presentation, is defined as the “failure of the shoulders to spontaneously traverse the pelvis after delivery of the fetal head”. This means that obstetric interventions are necessary to deliver the fetus’s body after the head has been delivered, as gentle traction has failed. Abnormal labor (dystocia) is expressed and represented in partograms or by the prolongation of the latent phase or by slowing and pausing in the phases of cervical dilatation and fetal descent. While partograms are helpful in visualizing the progress of labor, regular use of them has not been shown to enhance obstetric outcomes considerably, and no partogram has been shown to be superior to others in comparative trials. Dystocia can, therefore, appear in any phase of the evolution of childbirth, so it is necessary to simultaneously assess all the factors that may contribute to its abnormal evolution, that is, the forces exerted, the weight, the shape, the presentation and position of the fetus, the integrity and morphology of the pelvis, and its relation to the fetus. When this complication occurs, it can result in an increased incidence of maternal morbidity, as well as an increased incidence of neonatal morbidity and mortality. Although several risk factors are associated with shoulder dystocia, it has proven impossible to recognize individual cases of shoulder dystocia in practice before they occur during labor. Various guidelines have been published for the management of shoulder dystocia, with the primary goal of educating the obstetrician and midwife on the importance of a preplanned sequence of maneuvers, thereby reducing maternal and neonatal morbidity and mortality.
Full article
(This article belongs to the Special Issue Clinical Updates on Reproductive Medicine)
Open AccessArticle
Proposed Radiographic Parameters to Optimize Clinical Outcomes in Trapezio-Metacarpal Prosthesis Placement Using CT Imaging, with 1-Year Follow-Up
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Eleonora Piccirilli, Matteo Primavera, Chiara Salvati, Francesco Oliva and Umberto Tarantino
J. Pers. Med. 2024, 14(6), 585; https://doi.org/10.3390/jpm14060585 - 29 May 2024
Abstract
Purpose: Addressing trapezio-metacarpal (TMC) osteoarthritis often involves considering TMC joint replacement. Utilizing TMC prostheses offers advantages such as preserving the thumb length and more accurately replicating the thumb’s range of motion (ROM). TMC prostheses have an intrinsic risk of dislocation and aseptic loosening.
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Purpose: Addressing trapezio-metacarpal (TMC) osteoarthritis often involves considering TMC joint replacement. Utilizing TMC prostheses offers advantages such as preserving the thumb length and more accurately replicating the thumb’s range of motion (ROM). TMC prostheses have an intrinsic risk of dislocation and aseptic loosening. Analyzing pre- and postoperative imaging can mitigate complications and improve prosthetic placement, providing insights into both successes and potential challenges, refining overall clinical outcomes. Materials and methods: We conducted a prospective analysis of 30 patients with severe TMC arthritis treated with a Touch© (Kerimedical, Geneva, Switzerland) prosthesis in 2021–2023: X-ray and CT protocols were developed to analyze A) the correct prosthesis placement and B) its correlation with clinical outcomes (VAS, Kapandji and QuickDASH scores) by performing Spearman correlation analysis. Results: The average differences in trapezium height and M1-M2 ratio pre- and post-surgery were, respectively, 1.8 mm (SD ± 1.7; p < 0.001) and 0.04 mm (SD ± 0.04; p = 0.017). Pre-to-postoperative M1 axis length increased by an average of 2.98 mm (SD ± 3.84; p = 0.017). Trapezial cup sinking, indicated by the trapezium index, measured 4.6 mm (SD ± 1.2). The metacarpal index averaged at 11.3 mm (SD ± 3.3). The distance between the centers of the trapezium distal surface and the prosthesis cup was 2.23 mm (SD ± 1.4). The Spearman correlation analysis gave the following results: negative correlations were highlighted between postoperative VAS scores and the M1/M2 ratio and residual trapezium height (correlation coefficient: −0.7, p = 0.03 and −0.064, p = 0.03, respectively) at 6 months; a negative correlation was found at the 3-month mark between QuickDASH and the trapezium residual height (correlation coefficient: −0.07, p = 0.01); and a positive correlation was found for the trapezium index at 1 month (correlation coefficient: 0.07, p = 0.03) and 3 months (p = 0.04) using the Kapandji score. Similarly, we found a positive correlation between the distance between the prosthesis and trapezium centers and QuickDASH score at 1 and 3 months (correlation coefficient: 0.066, p = 0.03; correlation coefficient: 0.07, p = 0.05, respectively) and a positive correlation between prosthesis axis and the residual first metacarpal angle with QuickDASH score at 3 months (correlation coefficient: 0.07, p = 0.02). Conclusions: Pre- and postoperative systematic imaging analysis should become a method for predicting complications and guiding recovery in TMC prosthesis: CT imaging could provide us with radiographical landmarks that are intrinsically linked to clinical outcomes. Further research is necessary to fuel a protocol for the correct intraoperative TMC prosthesis implantation.
Full article
(This article belongs to the Special Issue New Trends for Arthroplasty in Personalized Treatment)
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Open AccessArticle
Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients
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Maria Valeria Freire, Marie Martin, Karin Segers, Edith Sepulchre, Natacha Leroi, Jérôme Coupier, Hassan Rezaei Kalantari, Pascal Wolter, Joëlle Collignon, Marc Polus, Olivier Plomteux, Claire Josse and Vincent Bours
J. Pers. Med. 2024, 14(6), 584; https://doi.org/10.3390/jpm14060584 - 29 May 2024
Abstract
Background/Objectives: BRCA1, BRCA2, ATM, and CHEK2 are known cancer predisposition genes (CPGs), but tumor risk in patients with simultaneous pathogenic variants (PVs) in CPGs remains largely unknown. In this study, we describe six patients from five families with multiple cancers
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Background/Objectives: BRCA1, BRCA2, ATM, and CHEK2 are known cancer predisposition genes (CPGs), but tumor risk in patients with simultaneous pathogenic variants (PVs) in CPGs remains largely unknown. In this study, we describe six patients from five families with multiple cancers who coinherited a combination of PVs in these genes. Methods: PVs were identified using NGS DNA sequencing and were confirmed by Sanger. Results: Families 1, 2, and 3 presented PVs in BRCA2 and ATM, family 4 in BRCA2 and BRCA1, and family 5 in BRCA2 and CHEK2. PVs were identified using NGS DNA sequencing and were confirmed by Sanger. The first family included patients with kidney, prostate, and breast cancer, in addition to pancreatic adenocarcinomas. In the second family, a female had breast cancer, while a male from the third family had prostate, gastric, and pancreatic cancer. The fourth family included a male with pancreatic cancer, and the fifth family a female with breast cancer. Conclusions: The early age of diagnosis and the development of multiple cancers in the reported patients indicate a very high risk of cancer in double-heterozygous patients associated with PVs in HR-related CPGs. Therefore, in families with patients who differ from other family members in terms of phenotype, age of diagnosis, or type of cancer, the cascade testing needs to include the study of other CPGs.
Full article
(This article belongs to the Section Omics/Informatics)
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Open AccessReview
Red-Haired People’s Altered Responsiveness to Pain, Analgesics, and Hypnotics: Myth or Fact?—A Narrative Review
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Annelie Augustinsson, Elisabeth Franze, Martina Almqvist, Margareta Warrén Stomberg, Carina Sjöberg and Pether Jildenstål
J. Pers. Med. 2024, 14(6), 583; https://doi.org/10.3390/jpm14060583 - 29 May 2024
Abstract
Red hair has been linked to altered sensitivity to pain, analgesics, and hypnotics. This alteration may be impacted by variants in the melanocortin-1 receptor (MC1R) gene, which are mainly found in redheads. The aim of this narrative review was to explore
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Red hair has been linked to altered sensitivity to pain, analgesics, and hypnotics. This alteration may be impacted by variants in the melanocortin-1 receptor (MC1R) gene, which are mainly found in redheads. The aim of this narrative review was to explore and present the current state of knowledge on red hair and its plausible associations with altered responsiveness to pain, analgesics, and hypnotics. Structured searches in the PubMed, CINAHL Complete, and Scopus electronic databases were conducted. Evidence suggests that women with red hair have an increased sensitivity to pain. Conversely, data also indicate a higher pain tolerance in homozygous carriers of MC1R variant alleles. Varied responses to analgesia have been reported, with both increased analgesic responsiveness in homozygous carriers of MC1R variant alleles and less analgesia in redheads. Data indicate an increased need for hypnotics in redheads. However, failed attempts to find statistical associations between red hair and altered responsiveness to hypnotics are also evident. Even though there seems to be an association between red hair and an altered responsiveness to pain, analgesics, and/or hypnotics, the results of this narrative review are inconclusive. Further research studies with larger populations and MC1R testing are needed.
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(This article belongs to the Special Issue Review Special Issue: Recent Advances in Personalized Medicine)
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Prediction of the Hamstring Graft Size for ACL Reconstruction Using Different Axial Layers in Preoperative MRI
by
Moritz Florian Mayr, Markus Siegel, Elham Taghizadeh, Peter Obid, Hagen Schmal and Kaywan Izadpanah
J. Pers. Med. 2024, 14(6), 582; https://doi.org/10.3390/jpm14060582 - 29 May 2024
Abstract
Background: In ACL reconstruction, it is desirable to assess preoperatively whether a sufficient graft diameter can be achieved with the planned tendon graft. The present study investigated the effect of the location of the cross-sectional area (CSA) measurement of the hamstring tendons in
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Background: In ACL reconstruction, it is desirable to assess preoperatively whether a sufficient graft diameter can be achieved with the planned tendon graft. The present study investigated the effect of the location of the cross-sectional area (CSA) measurement of the hamstring tendons in preoperative MRI on the correlation of the CSA with the intraoperative graft diameter. In addition, we analyzed whether the measurement results of examiners with different skill levels were comparable. Methods: A total of 32 subjects undergoing a single bundle ACL reconstruction using an autologous ipsilateral quadrupled hamstring graft (STGT) were included. The CSA of the semitendinosus and gracilis tendon was determined in preoperative MRI on six defined levels by three examiners. The intraclass correlation coefficient between the measurements of these observers was determined. The correlation between the sum of the CSA of both tendons (CSA STGT) and the graft diameter was investigated. Results: The interrater reliability was excellent on most of the investigated levels. A significant correlation between CSA STGT and the graft diameter was seen on all levels. The strongest correlation was found on the level 10 mm above the joint line. Conclusions: The measurement of the CSA STGT in the preoperative MRI 10 mm above the joint line enabled a good assessment of the achievable graft diameter in ACL reconstruction, independent of the examiners’ training level.
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(This article belongs to the Special Issue Personalized Management in Orthopedics and Traumatology)
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The Immunomodulatory Potential of Concurrent High-Dose Radiotherapy and Immune Checkpoint Inhibitor Cemiplimab in Advanced Cutaneous Squamous Cell Carcinoma: Initial Results
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Maria Chiara Lo Greco, Giorgia Marano, Roberto Milazzotto, Rocco Luca Emanuele Liardo, Irene Finocchiaro, Madalina La Rocca, Antonio Basile, Pietro Valerio Foti, Stefano Palmucci, Emanuele David, Stefano Pergolizzi and Corrado Spatola
J. Pers. Med. 2024, 14(6), 581; https://doi.org/10.3390/jpm14060581 - 29 May 2024
Abstract
In this retrospective case series, we investigate the synergistic effect and the immunomodulatory potential of combination radiotherapy and immunotherapy on 11 patients affected by locally advanced or metastatic cutaneous squamous cell carcinoma (CSCC), treated at our institution between 2020 and 2023. The primary
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In this retrospective case series, we investigate the synergistic effect and the immunomodulatory potential of combination radiotherapy and immunotherapy on 11 patients affected by locally advanced or metastatic cutaneous squamous cell carcinoma (CSCC), treated at our institution between 2020 and 2023. The primary endpoints of this study are objective tumor response, assessed by Immunotherapy Response Evaluation Criteria in Solid Tumors (iRECIST), and time to treatment failure (disease progression). In all patients, surgery was deemed not amenable, due to its potential functional and aesthetic impact. Therefore, upon multidisciplinary agreement, radiotherapy and immunotherapy with cemiplimab were alternatively administered. After 6 months, an early objective tumor response was observed in 9/11 patients, with 17/20 cutaneous lesions (85%) presenting either a complete or partial response. Only 2/11 patients, with a total of 3/20 cutaneous lesions (15%), had stable disease. These benefits persisted at a longer follow-up (21.4 ± 9.7 months), with no patients presenting disease progression. Despite the retrospective nature of this study and small sample size, our experience highlights the ability of concomitant radiotherapy and cemiplimab to promote an early objective response in patients with advanced CSCC. Moreover, in our population, the clinical benefits were also related to a longer progression-free survival, without any safety alert reported.
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(This article belongs to the Special Issue Cancer Immunotherapy: Current Advancements and Future Perspectives)
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Open AccessReview
Current Management of Acute Severe Ulcerative Colitis: New Insights on the Surgical Approaches
by
Sara Lauricella, Francesco Brucchi, Federica Cavalcoli, Emanuele Rausa, Diletta Cassini, Michelangelo Miccini, Marco Vitellaro, Roberto Cirocchi and Gianluca Costa
J. Pers. Med. 2024, 14(6), 580; https://doi.org/10.3390/jpm14060580 - 28 May 2024
Abstract
Acute severe ulcerative colitis (ASUC) is a life-threatening medical emergency with considerable morbidity. Despite recent advances in medical IBD therapy, colectomy rates for ASUC remain high. A scoping review of published articles on ASUC was performed. We collected data, such as general information
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Acute severe ulcerative colitis (ASUC) is a life-threatening medical emergency with considerable morbidity. Despite recent advances in medical IBD therapy, colectomy rates for ASUC remain high. A scoping review of published articles on ASUC was performed. We collected data, such as general information of the disease, diagnosis and initial assessment, and available medical and surgical treatments focusing on technical aspects of surgical approaches. The most relevant articles were considered in this scoping review. The management of ASUC is challenging; currently, personalized treatment for it is unavailable. Sequential medical therapy should be administrated, preferably in high-volume IBD centers with close patient monitoring and indication for surgery in those cases with persistent symptoms despite medical treatment, complications, and clinical worsening. A total colectomy with end ileostomy is typically performed in the acute setting. Managing rectal stump is challenging, and all individual and technical aspects should be considered. Conversely, when performing elective colectomy for ASUC, a staged surgical procedure is usually preferred, thus optimizing the patients’ status preoperatively and minimizing postoperative complications. The minimally invasive approach should be selected whenever technically feasible. Robotic versus laparoscopic ileal pouch–anal anastomosis (IPAA) has shown similar outcomes in terms of safety and postoperative morbidity. The transanal approach to ileal pouch–anal anastomosis (Ta-IPAA) is a recent technique for creating an ileal pouch–anal anastomosis via a transanal route. Early experiences suggest comparable short- and medium-term functional results of the transanal technique to those of traditional approaches. However, there is a need for additional comparative outcomes data and a better understanding of the ideal training and implementation pathways for this procedure. This manuscript predominantly explores the surgical treatment of ASUC. Additionally, it provides an overview of currently available medical treatment options that the surgeon should reasonably consider in a multidisciplinary setting.
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(This article belongs to the Section Personalized Therapy and Drug Delivery)
Open AccessBrief Report
Correlation between Genomic Variants and Worldwide COVID-19 Epidemiology
by
Ana Caroline Alves da Costa, Laura Patrícia Albarello Gellen, Marianne Rodrigues Fernandes, Rita de Cássia Calderaro Coelho, Natasha Monte, Francisco Cezar Aquino de Moraes, Maria Clara Leite Calderaro, Lilian Marques de Freitas, Juliana Aires Matos, Thamara Fernanda da Silva Fernandes, Kaio Evandro Cardoso Aguiar, Lui Wallacy Morikawa Souza Vinagre, Sidney Emanuel Batista dos Santos and Ney Pereira Carneiro dos Santos
J. Pers. Med. 2024, 14(6), 579; https://doi.org/10.3390/jpm14060579 - 28 May 2024
Abstract
COVID-19 is a systemic disease caused by the etiologic agent SARS-CoV-2, first reported in Hubei Province in Wuhan, China, in late 2019. The SARS-CoV-2 virus has evolved over time with distinct transmissibility subvariants from ancestral lineages. The clinical manifestations of the disease vary
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COVID-19 is a systemic disease caused by the etiologic agent SARS-CoV-2, first reported in Hubei Province in Wuhan, China, in late 2019. The SARS-CoV-2 virus has evolved over time with distinct transmissibility subvariants from ancestral lineages. The clinical manifestations of the disease vary according to their severity and can range from asymptomatic to severe. Due to the rapid evolution to a pandemic, epidemiological studies have become essential to understand and effectively combat COVID-19, as the incidence and mortality of this disease vary between territories and populations. This study correlated epidemiological data on the incidence and mortality of COVID-19 with frequencies of important SNPs in GWAS studies associated with the susceptibility and mortality of this disease in different populations. Our results indicated significant correlations for 11 genetic variants (rs117169628, rs2547438, rs2271616, rs12610495, rs12046291, rs35705950, rs2176724, rs10774671, rs1073165, rs4804803 and rs7528026). Of these 11 variants, 7 (rs12046291, rs117169628, rs1073165, rs2547438, rs2271616, rs12610495 and rs35705950) were positively correlated with the incidence rate, these variants were more frequent in EUR populations, suggesting that this population is more susceptible to COVID-19. The rs2176724 variant was inversely related to incidence rates; therefore, the higher the frequency of the allele is, the lower the incidence rate. This variant was more frequent in the AFR population, which suggests a protective factor against SARS-CoV-2 infection in this population. The variants rs10774671, rs4804803, and rs7528026 showed a significant relationship with mortality rates. SNPs rs10774671 and rs4804803 were inversely related to mortality rates and are more frequently present in the AFR population. The rs7528026 variant, which is more frequent in the AMR population, was positively related to mortality rates. The study has the potential to identify and correlate the genetic profile with epidemiological data, identify populations that are more susceptible to severe forms of COVID-19, and relate them to incidence and mortality.
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(This article belongs to the Special Issue Personalized Medicine for COVID-19)
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Self-Reported Sleep Duration Is a Useful Tool to Predict Sarcopenia in Chilean Older Adults: Evidence from the ALEXANDROS Longitudinal Study
by
Myriam Gutiérrez, Carlos Márquez, Lydia Lera, Patricio Peirano, Felipe Salech and Cecilia Albala
J. Pers. Med. 2024, 14(6), 578; https://doi.org/10.3390/jpm14060578 - 28 May 2024
Abstract
Age-related sleep disorders share common pathways with sarcopenia. Prospective data from Latin American populations are scarce, and the association between sleep disorders and sarcopenia in Chileans remains unknown. Thus, we aimed to study the longitudinal association between sleep disorders and sarcopenia in a
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Age-related sleep disorders share common pathways with sarcopenia. Prospective data from Latin American populations are scarce, and the association between sleep disorders and sarcopenia in Chileans remains unknown. Thus, we aimed to study the longitudinal association between sleep disorders and sarcopenia in a cohort study of 1116 community-dwelling Chilean older people ≥60 years old from the ALEXANDROS cohorts. After the exclusion criteria, 318 subjects were followed. Sociodemographic data, self-reported chronic diseases, sedentarism, sleep characteristics, anthropometric measurements, handgrip strength, and muscle performance were assessed. Results indicated that at baseline, the prevalence of sarcopenia was 24.10% without gender differences, and the prevalence of self-reported sleep problems was 23.3%, higher in women (26.46% versus 17.15% in men). The adjusted Cox regression models for sarcopenia showed an association between sarcopenia, sleep disorders (HR = 2.08, 95% IC 1.14–3.80), and long sleep duration (HR = 2.42, 95% IC 1.20–4.91). After 8.24 years of follow-up, there were 2.2 cases of sarcopenia per 100 person-years. This study demonstrates that sleep disorders are an independent risk factor for sarcopenia in Chilean older people. The identification of sleep disorders through self-reported data provides an opportunity for early identification of risk and cost-effective sarcopenia prevention.
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(This article belongs to the Special Issue Precision Medicine for Epidemiology and Public Health)
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Consecutive Dual-Session Transcranial Direct Current Stimulation in Chronic Subjective Severe to Catastrophic Tinnitus with Normal Hearing
by
Sung Jun Han, Ji Hye Lee, Yeso Choi, Seok Min Hong, Jun Hee Kim and Sung Kyun Kim
J. Pers. Med. 2024, 14(6), 577; https://doi.org/10.3390/jpm14060577 - 28 May 2024
Abstract
Transcranial direct current stimulation (tDCS) is emerging as a promising non-invasive intervention for tinnitus by aiming to modulate abnormal brain activity. This study investigated the efficacy of dual-session tDCS for the relief of perception, distress, and loudness in patients with severe chronic subjective
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Transcranial direct current stimulation (tDCS) is emerging as a promising non-invasive intervention for tinnitus by aiming to modulate abnormal brain activity. This study investigated the efficacy of dual-session tDCS for the relief of perception, distress, and loudness in patients with severe chronic subjective tinnitus and assessed the duration of tinnitus suppression effects compared to single-session and control groups over a 2-month follow-up. In a prospective, randomized, single-blind, placebo-controlled trial, 30 participants with severe chronic subjective tinnitus underwent bifrontal tDCS. The control group (n = 9), single-session group (n = 10), and dual-session group (n = 11) received 2 mA stimulation for 20 min per session, twice a week for one month. The treatment response was monitored weekly using the Visual Analogue Scale (VAS), with additional assessments using the Tinnitus Handicap Inventory (THI) and Beck Depression Inventory (BDI) at the fourth and eighth weeks. The single- and dual-session groups showed statistically significant improvements in VAS, THI, and BDI scores compared to the control group. THI and BDI scores showed a significant difference between the single- and dual-session groups. The dual-session group demonstrated a more sustained tinnitus suppression effect than the single-session group. tDCS has been validated as an effective intervention for the suppression of tinnitus, with the dual-session protocol showing longer-term benefits. These findings support the potential of tDCS as a treatment for tinnitus, particularly in dual-session applications.
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(This article belongs to the Special Issue Personalized Medicine in Otolaryngology: Special Topic Otology—2nd Edition)
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