Journal of Personalized Medicine

11 pages, 2076 KiB

Open AccessArticle

Anatomical Reference of the Femur after Distal Resection Is Reliable for Rotational Alignment in Total Knee Arthroplasty

by Seong Hwan Kim, Yong-Beom Park, Gil-Won Choi and Han-Jun Lee

J. Pers. Med. 2024, 14(6), 663; https://doi.org/10.3390/jpm14060663 - 20 Jun 2024

Viewed by 1083

Abstract

The rotational alignment of the femoral component in total knee arthroplasty (TKA) is considered an important factor, but it is still difficult to assess intraoperatively. This study was conducted to identify anatomical parameters for femoral rotational alignment. A total of 204 patients who [...] Read more.

The rotational alignment of the femoral component in total knee arthroplasty (TKA) is considered an important factor, but it is still difficult to assess intraoperatively. This study was conducted to identify anatomical parameters for femoral rotational alignment. A total of 204 patients who underwent primary TKA between 2015 and 2019 were enrolled. The femoral lateral (FLAP) and femoral medial anteroposterior (FMAP) lengths were measured as the widest lengths in the anteroposterior (AP) axis after distal femoral resection. The difference between FLAP and FMAP was defined as dFAP. The concordance correlation coefficient (CCC) was assessed for agreement between the cTEA-PCA and the value of femoral rotation using the linear regression analysis equation. HKA, FLAP, FMAP, and dFAP were significantly associated with femoral rotational alignment. The prediction equation combining the novel intraoperative anatomical references showed improved association with rotational alignment. If dFAP was 6.0 mm, the femoral rotation angle was calculated as 4.9° using this univariate regression equation. The CCC was 0.483, indicating moderate agreement. The dFAP showed an association with distal femoral rotational alignment. A 6 mm dFAP could be a reference for around 5° of femoral rotation. The equation developed in this study may be a reliable tool for intraoperative distal femoral rotational alignment. Full article

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

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15 pages, 2350 KiB

Open AccessReview

Repetitive Transcranial Magnetic Stimulation in Fibromyalgia: Exploring the Necessity of Neuronavigation for Targeting New Brain Regions

by Zoran Velickovic and Goran Radunovic

J. Pers. Med. 2024, 14(6), 662; https://doi.org/10.3390/jpm14060662 - 20 Jun 2024

Viewed by 2184

Abstract

Fibromyalgia and osteoarthritis are among the most prevalent rheumatic conditions worldwide. Nonpharmacological interventions have gained scientific endorsements as the preferred initial treatments before resorting to pharmacological modalities. Repetitive transcranial magnetic stimulation (rTMS) is among the most widely researched neuromodulation techniques, though it has [...] Read more.

Fibromyalgia and osteoarthritis are among the most prevalent rheumatic conditions worldwide. Nonpharmacological interventions have gained scientific endorsements as the preferred initial treatments before resorting to pharmacological modalities. Repetitive transcranial magnetic stimulation (rTMS) is among the most widely researched neuromodulation techniques, though it has not yet been officially recommended for fibromyalgia. This review aims to summarize the current evidence supporting rTMS for treating various fibromyalgia symptoms. Recent findings: High-frequency rTMS directed at the primary motor cortex (M1) has the strongest support in the literature for reducing pain intensity, with new research examining its long-term effectiveness. Nonetheless, some individuals may not respond to M1-targeted rTMS, and symptoms beyond pain can be prominent. Ongoing research aims to improve the efficacy of rTMS by exploring new brain targets, using innovative stimulation parameters, incorporating neuronavigation, and better identifying patients likely to benefit from this treatment. Summary: Noninvasive brain stimulation with rTMS over M1 is a well-tolerated treatment that can improve chronic pain and overall quality of life in fibromyalgia patients. However, the data are highly heterogeneous, with a limited level of evidence, posing a significant challenge to the inclusion of rTMS in official treatment guidelines. Research is ongoing to enhance its effectiveness, with future perspectives exploring its impact by targeting additional areas of the brain such as the medial prefrontal cortex, anterior cingulate cortex, and inferior parietal lobe, as well as selecting the right patients who could benefit from this treatment. Full article

(This article belongs to the Special Issue Musculoskeletal Diseases: Aetiology, Clinical Implications, Rehabilitation and Treatment)

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10 pages, 3541 KiB

Open AccessArticle

Chronic Pelvic Pain in Congestion Pelvic Syndrome: Clinical Impact and Electromyography Pelvic Floor Activity Prior to and after Endovascular Treatment

by Fabio Corvino, Francesco Giurazza, Milena Coppola, Antonio Tomasello, Francesco Coletta, Crescenzo Sala, Romolo Villani, Bernardo Maria de Martino, Antonio Corvino and Raffaella Niola

J. Pers. Med. 2024, 14(6), 661; https://doi.org/10.3390/jpm14060661 - 20 Jun 2024

Cited by 1 | Viewed by 1799

Abstract

Background: This study aims to characterize the clinical impact of endovascular treatment in Chronic Pelvic Pain (CPP) patients due to Pelvic Congestion Syndrome (PCS) and to assess the diagnostic value of surface electromyography (sEMG) studies of pelvic floor musculature (PFM) in PCS patients [...] Read more.

Background: This study aims to characterize the clinical impact of endovascular treatment in Chronic Pelvic Pain (CPP) patients due to Pelvic Congestion Syndrome (PCS) and to assess the diagnostic value of surface electromyography (sEMG) studies of pelvic floor musculature (PFM) in PCS patients pre- and post-endovascular treatment. Between January 2019 and July 2023, we studied consecutive patients who were referred for interventional radiology assessment and treatment to a tertiary trauma care hospital, had evidence of non-obstructive PCS from Magnetic Resonance Imaging (MRI), had sEMG of PFM and who had undergone endovascular treatment. The primary outcome was clinical, defined as a change in symptom severity after endovascular treatment. The secondary outcome was a difference in the sEMG values pre- and post-endovascular therapy. Results: We included 32 women (mean age 38 years). CPP was the leading symptom in 100% patients, followed by dysmenorrhea (75%) and post-coital pain (68.7%). Endovascular therapy included ovarian vein embolization in 28 patients (87.5%) and internal iliac vein embolization in only 2 patients (6.2%). After a median of 8 (range 6–10) months from endovascular treatment, 29 (90%) of patients reported an improvement of the main symptoms, and 15 (46%) were symptom-free. The sEMG values did not show a statistical difference pre- and post-PCS endovascular treatment. Conclusions: Endovascular treatment appeared to be highly effective in CPP due to PCS and was associated with a low rate of complication. sEMG study could be useful in revealing alterations of PFM electrophysiology, but a difference pre- and post-embolization in PCS patients was not demonstrated. Full article

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

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10 pages, 1331 KiB

Open AccessArticle

Calcium-Free Dialysate Hemodialysis: A Simplified Approach

by Alexandra Corbu, Florian Terrec, Paolo Malvezzi, Arnaud Jouzier, Thomas Jouve, Lionel Rostaing and Hamza Naciri Bennani

J. Pers. Med. 2024, 14(6), 660; https://doi.org/10.3390/jpm14060660 - 20 Jun 2024

Cited by 1 | Viewed by 1361

Abstract

Intermittent hemodialysis (HD) in high-bleeding-risk patients presents a challenge as circuit anticoagulation using heparin is contraindicated in such cases. Recently, the use of calcium-free citrate-containing dialysate with calcium supplementation emerged as a viable alternative to heparin-circuit anticoagulation. This is a retrospective, monocentric study [...] Read more.

Intermittent hemodialysis (HD) in high-bleeding-risk patients presents a challenge as circuit anticoagulation using heparin is contraindicated in such cases. Recently, the use of calcium-free citrate-containing dialysate with calcium supplementation emerged as a viable alternative to heparin-circuit anticoagulation. This is a retrospective, monocentric study to evaluate dialysis efficacy using calcium-free citrate-containing dialysate with calcium reinjection into the venous line in hemodialysis patients at risk of bleeding. A total of 53 patients were analyzed: 52 had a temporary contraindication to systemic anticoagulation (active bleeding or surgical intervention), and 1 chronic HD patient had prolonged bleeding time due to inoperable arteriovenous fistula stenosis. Only 7 out of 79 dialysis sessions performed were prematurely terminated (vascular access dysfunction). The median dialysis time was 240 min (range: 150–300). The chronic dialysis patient had 108 sessions with no premature termination. Frequent monitoring of ionized calcium was performed throughout the dialysis sessions: levels remained stable at T0 and T + 60 min (1.08 ± 0.08 mmol/L) and slightly increased at the end of the dialysis session (1.19 ± 0.13 mmol/L), remaining within normal limits. Target postfilter ionized calcium <0.4 mmol/L was achieved in all sessions (0.31 ± 0.07 mmol/L). There were no cases of symptomatic hypo-/hypercalcemia and no need for calcium infusion rate adjustment throughout the sessions. Hemodialysis with calcium-free citrate-containing dialysate and calcium reinjection into the venous line is efficient and safe in HD patients with contraindications to systemic anticoagulation. Full article

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

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11 pages, 1222 KiB

Open AccessArticle

Effect of Surgeon-Performed Thoracic Paravertebral Block on Postoperative Pain in Adolescent Idiopathic Scoliosis Surgery: A Prospective Randomized Controlled Trial

by Bora Lee, Eun Jung Kim, Jin Ha Park, Kun-Bo Park and Yong Seon Choi

J. Pers. Med. 2024, 14(6), 659; https://doi.org/10.3390/jpm14060659 - 20 Jun 2024

Cited by 1 | Viewed by 1915

Abstract

Posterior spinal fusion for adolescent idiopathic scoliosis (AIS) causes severe postoperative pain. Thoracic paravertebral block (PVB) provides excellent analgesia during various surgeries. We examined the effects of PVB on postoperative analgesia in children undergoing AIS surgery. In this study, 32 children scheduled for [...] Read more.

Posterior spinal fusion for adolescent idiopathic scoliosis (AIS) causes severe postoperative pain. Thoracic paravertebral block (PVB) provides excellent analgesia during various surgeries. We examined the effects of PVB on postoperative analgesia in children undergoing AIS surgery. In this study, 32 children scheduled for AIS surgery were randomly assigned to receive either PVB (PVB group) or no block (control group). The PVB group underwent surgeon-performed PVB with 0.5 mL/kg of adrenalized 0.2% ropivacaine on each side. The primary outcome was the pain score at rest at 6 h postoperatively. Secondary outcomes included pain scores both at rest and during movement and analgesic use for 48 h postoperatively. The postoperative resting pain scores at 6 h were comparable between the control and PVB groups (5.2 ± 2.0 and 5.1 ± 1.8, respectively), with no significant differences. However, at 1 h postoperatively, the control group showed significantly higher resting and mean moving pain scores than the PVB group (p < 0.05). The pain scores at other time points and analgesic use were comparable between the groups. Initial benefits of surgeon-performed bilateral PVB were observed but diminished at 6 h postoperatively. Future research using various anesthetics is needed to extend the effects of PVB. Full article

(This article belongs to the Special Issue Anesthesiology and Pain Management in Clinical Medicine)

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12 pages, 1047 KiB

Open AccessArticle

Prediction of Cesarean Section for Intrapartum Fetal Compromise: A Multivariable Model from a Prospective Observational Approach

by Blanca Novillo-Del Álamo, Alicia Martínez-Varea, Mar Nieto-Tous, Carmen Padilla-Prieto, Fernando Modrego-Pardo, Silvia Bello-Martínez de Velasco, María Victoria García-Florenciano and José Morales-Roselló

J. Pers. Med. 2024, 14(6), 658; https://doi.org/10.3390/jpm14060658 - 20 Jun 2024

Cited by 1 | Viewed by 1095

Abstract

Objective: A cesarean section for intrapartum fetal compromise (IFC) is performed to avoid potential damage to the newborn. It is, therefore, crucial to develop an accurate prediction model that can anticipate, prior to labor, which fetus may be at risk of presenting this [...] Read more.

Objective: A cesarean section for intrapartum fetal compromise (IFC) is performed to avoid potential damage to the newborn. It is, therefore, crucial to develop an accurate prediction model that can anticipate, prior to labor, which fetus may be at risk of presenting this condition. Material and Methods: To calculate a prediction model for IFC, the clinical, epidemiological, and ultrasonographic variables of 538 patients admitted to the maternity of La Fe Hospital were studied and evaluated using univariable and multivariable logistic regression analysis, using the area under the curve (AUC) and the Akaike Information Criteria (AIC). Results: In the univariable analysis, CPR MoM was the best single parameter for the prediction of CS for IFC (OR 0.043, p < 0.0001; AUC 0.72, p < 0.0001). Concerning the multivariable analysis, for the general population, the best prediction model (lower AIC) included the CPR multiples of the median (MoM), the maternal age, height, and parity, the smoking habits, and the type of labor onset (spontaneous or induction) (AUC 0.80, p < 0.0001). In contrast, for the pregnancies undergoing labor induction, the best prediction model included the CPR MoM, the maternal height and parity, and the smoking habits (AUC 0.80, p < 0.0001). None of the models included estimated fetal weight (EFW). Conclusions: CS for IFC can be moderately predicted prior to labor using maternal characteristics and CPR MoM. A validation study is pending to apply these models in daily clinical practice. Full article

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

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11 pages, 550 KiB

Open AccessArticle

Clinical Characteristics and Prognosis of Older Patients with Coronavirus Disease 2019 Requiring Mechanical Ventilation

by Green Hong, Da Hyun Kang, Sunghoon Park, Su Hwan Lee, Onyu Park, Taehwa Kim, Hye Ju Yeo, Jin Ho Jang, Woo Hyun Cho and Song I Lee

J. Pers. Med. 2024, 14(6), 657; https://doi.org/10.3390/jpm14060657 - 19 Jun 2024

Cited by 1 | Viewed by 1239

Abstract

An older age is associated with severe progression and poor prognosis in coronavirus disease 2019 (COVID-19), and mechanical ventilation is often required. The specific characteristics of older patients undergoing mechanical ventilation and their prognostic factors are largely unknown. We aimed to identify potential [...] Read more.

An older age is associated with severe progression and poor prognosis in coronavirus disease 2019 (COVID-19), and mechanical ventilation is often required. The specific characteristics of older patients undergoing mechanical ventilation and their prognostic factors are largely unknown. We aimed to identify potential prognostic factors in this group to inform treatment decisions. This retrospective cohort study collected data from patients with COVID-19 at 22 medical centers. Univariate and multivariate Cox regression analyses were performed to assess factors that influence mortality. We allocated 434 patients in geriatric (≥80 years) and elderly (65–79 years) groups. The former group scored significantly higher than the elderly group in the clinical frailty scale and sequential organ failure assessment, indicating more severe organ dysfunction. Significantly lower administration rates of tocilizumab and extracorporeal membrane oxygenation and higher intensive care unit (ICU) and in-hospital mortality were noted in the geriatric group. The factors associated with ICU and in-hospital mortality included high creatinine levels, the use of continuous renal replacement therapy, prone positioning, and the administration of life-sustaining treatments. These results highlight significant age-related differences in the management and prognosis of critically ill older patients with COVID-19. Increased mortality rates and organ dysfunction in geriatric patients undergoing mechanical ventilation necessitate age-appropriate treatment strategies to improve their prognoses. Full article

(This article belongs to the Special Issue Respiratory and Emergency Medicine)

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15 pages, 921 KiB

Open AccessReview

Future Horizons: The Potential Role of Artificial Intelligence in Cardiology

by Octavian Stefan Patrascanu, Dana Tutunaru, Carmina Liana Musat, Oana Maria Dragostin, Ana Fulga, Luiza Nechita, Alexandru Bogdan Ciubara, Alin Ionut Piraianu, Elena Stamate, Diana Gina Poalelungi, Ionut Dragostin, Doriana Cristea-Ene Iancu, Anamaria Ciubara and Iuliu Fulga

J. Pers. Med. 2024, 14(6), 656; https://doi.org/10.3390/jpm14060656 - 19 Jun 2024

Cited by 3 | Viewed by 4099

Abstract

Cardiovascular diseases (CVDs) are the leading cause of premature death and disability globally, leading to significant increases in healthcare costs and economic strains. Artificial intelligence (AI) is emerging as a crucial technology in this context, promising to have a significant impact on the [...] Read more.

Cardiovascular diseases (CVDs) are the leading cause of premature death and disability globally, leading to significant increases in healthcare costs and economic strains. Artificial intelligence (AI) is emerging as a crucial technology in this context, promising to have a significant impact on the management of CVDs. A wide range of methods can be used to develop effective models for medical applications, encompassing everything from predicting and diagnosing diseases to determining the most suitable treatment for individual patients. This literature review synthesizes findings from multiple studies that apply AI technologies such as machine learning algorithms and neural networks to electrocardiograms, echocardiography, coronary angiography, computed tomography, and cardiac magnetic resonance imaging. A narrative review of 127 articles identified 31 papers that were directly relevant to the research, encompassing a broad spectrum of AI applications in cardiology. These applications included AI models for ECG, echocardiography, coronary angiography, computed tomography, and cardiac MRI aimed at diagnosing various cardiovascular diseases such as coronary artery disease, hypertrophic cardiomyopathy, arrhythmias, pulmonary embolism, and valvulopathies. The papers also explored new methods for cardiovascular risk assessment, automated measurements, and optimizing treatment strategies, demonstrating the benefits of AI technologies in cardiology. In conclusion, the integration of artificial intelligence (AI) in cardiology promises substantial advancements in diagnosing and treating cardiovascular diseases. Full article

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

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20 pages, 753 KiB

Open AccessEditor’s ChoiceReview

Analysis of the Use of Sample Size and Effect Size Calculations in a Temporomandibular Disorders Randomised Controlled Trial—Short Narrative Review

by Grzegorz Zieliński and Piotr Gawda

J. Pers. Med. 2024, 14(6), 655; https://doi.org/10.3390/jpm14060655 - 19 Jun 2024

Cited by 14 | Viewed by 2594

Abstract

Background/Objectives: Temporomandibular disorder (TMD) is the term used to describe a pathology (dysfunction and pain) in the masticatory muscles and temporomandibular joint (TMJ). There is an apparent upward trend in the publication of dental research and a need to continually improve the quality [...] Read more.

Background/Objectives: Temporomandibular disorder (TMD) is the term used to describe a pathology (dysfunction and pain) in the masticatory muscles and temporomandibular joint (TMJ). There is an apparent upward trend in the publication of dental research and a need to continually improve the quality of research. Therefore, this study was conducted to analyse the use of sample size and effect size calculations in a TMD randomised controlled trial. Methods: The period was restricted to the full 5 years, i.e., papers published in 2019, 2020, 2021, 2022, and 2023. The filter article type—“Randomized Controlled Trial” was used. The studies were graded on a two-level scale: 0–1. In the case of 1, sample size (SS) and effect size (ES) were calculated. Results: In the entire study sample, SS was used in 58% of studies, while ES was used in 15% of studies. Conclusions: Quality should improve as research increases. One factor that influences quality is the level of statistics. SS and ES calculations provide a basis for understanding the results obtained by the authors. Access to formulas, online calculators and software facilitates these analyses. High-quality trials provide a solid foundation for medical progress, fostering the development of personalized therapies that provide more precise and effective treatment and increase patients’ chances of recovery. Improving the quality of TMD research, and medical research in general, helps to increase public confidence in medical advances and raises the standard of patient care. Full article

(This article belongs to the Special Issue Personalized Medicine in Dental and Oral Health)

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28 pages, 2995 KiB

Open AccessSystematic Review

The Long Journey towards Personalized Targeted Therapy in Poorly Differentiated Thyroid Carcinoma (PDTC): A Case Report and Systematic Review

by Odysseas Violetis, Panagiota Konstantakou, Ariadni Spyroglou, Antonios Xydakis, Panagiotis B. Kekis, Sofia Tseleni, Denise Kolomodi, Manousos Konstadoulakis, George Mastorakos, Maria Theochari, Javier Aller and Krystallenia I. Alexandraki

J. Pers. Med. 2024, 14(6), 654; https://doi.org/10.3390/jpm14060654 - 18 Jun 2024

Cited by 2 | Viewed by 2643

Abstract

Background: Poorly differentiated thyroid carcinoma (PDTC) has an intermediate prognosis between indolent well-differentiated thyroid carcinoma (TC) and anaplastic carcinoma. Herein, we present a case report with a PDTC component, along with a systematic review of the literature. Case Report: We report a case [...] Read more.

Background: Poorly differentiated thyroid carcinoma (PDTC) has an intermediate prognosis between indolent well-differentiated thyroid carcinoma (TC) and anaplastic carcinoma. Herein, we present a case report with a PDTC component, along with a systematic review of the literature. Case Report: We report a case of a 45-year-old man diagnosed with a PDTC component, along with hobnail and tall-cell variant features positive for BRAFV600E mutation, after a total thyroidectomy and neck dissection. Radioactive iodine (RAI)-131 therapy was applied, but an early recurrence led to complementary surgeries. The anti-Tg rise, the presence of new lymph nodes, and the negative whole-bodyradioiodine scan were suggestive of a radioiodine-resistant tumor. Lenvatinib, sorafenib, dabrafenib/trametinib, cabozantinib and radiotherapy were all administered, controlling the tumor for a period of time before the patient ultimately died post-COVID infection. Systematic Review: We searched PubMed, Scopus, and WebofScience to identify studies reporting clinicopathological characteristics, molecular marker expression, and management of non-anaplastic TC with any proportion of PDTC in adult patients. Of the 2007 records retrieved, 82were included in our review (PROSPERO-ID545847). Conclusions: Our case, together with the systematic review, imply that a combination of molecular-targetedtreatments may be safe and effective in patients with RAI-resistantBRAF-mutated advanced PDTC when surgery has failed to control tumor progression. Full article

(This article belongs to the Section Molecular Targeted Therapy)

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21 pages, 1773 KiB

Open AccessReview

The Role of Oral Supplementation for the Management of Age-Related Macular Degeneration: A Narrative Review

by Angela D’Angelo, Livio Vitiello, Vincenzo Gagliardi, Giulio Salerno, Ilaria De Pascale, Alessia Coppola, Giulia Abbinante, Alfonso Pellegrino and Giuseppe Giannaccare

J. Pers. Med. 2024, 14(6), 653; https://doi.org/10.3390/jpm14060653 - 18 Jun 2024

Cited by 5 | Viewed by 2330

Abstract

The majority of neurodegenerative eye disorders occur with aging and significantly impair quality of life. Age-related macular degeneration (AMD) is the third most common cause of visual impairment and blindness worldwide. One of the most important elements in the pathophysiology of neurodegenerative eye [...] Read more.

The majority of neurodegenerative eye disorders occur with aging and significantly impair quality of life. Age-related macular degeneration (AMD) is the third most common cause of visual impairment and blindness worldwide. One of the most important elements in the pathophysiology of neurodegenerative eye disease is certainly oxidative stress, with neuroinflammation and ocular ischemia which may also be significant factors. Antioxidants, either by food or oral supplementation, may be able to mitigate the deleterious effects of reactive oxygen species that build as a result of oxidative stress, ischemia, and inflammation. Over the past few decades, a number of research works examining the potential adjuvant impact of antioxidants in AMD have been published. In fact, there is not only more and more interest in already known molecules but also in new molecules that can help clinicians in the management of this complex multifactorial disease, such as astaxanthin and melatonin. However, while some studies showed encouraging outcomes, others were conflicting. In addition, more and more attention is also being paid to nutrition, considered a pivotal key point, especially to prevent AMD. For this reason, the purpose of this review is to analyze the main antioxidant molecules currently used as oral supplements for AMD treatment, as well as the role of diet and food intake in this ocular disease, to better understand how all these factors can improve the clinical management of AMD patients. Full article

(This article belongs to the Special Issue New Advances and Perspectives in Ophthalmology: Progress and Modern Challenges)

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16 pages, 1086 KiB

Open AccessArticle

The Role of the Gut Microbiome in Inflammatory Bowel Disease: The Middle East Perspective

by Ahmed El-Sayed, Diya Kapila, Rama Sami Issa Taha, Sherif El-Sayed, Mohd Rafiw Ahmed Mahen, Roa’a Taha and Laith Alrubaiy

J. Pers. Med. 2024, 14(6), 652; https://doi.org/10.3390/jpm14060652 - 18 Jun 2024

Cited by 2 | Viewed by 3280

Abstract

The gut microbiome is of paramount importance in preserving internal balance in the gastrointestinal tract; therefore, disruptions in its regulation have been linked to the development of inflammatory bowel disease (IBD). This article explores the intricate details of the gastrointestinal microbiome as it [...] Read more.

The gut microbiome is of paramount importance in preserving internal balance in the gastrointestinal tract; therefore, disruptions in its regulation have been linked to the development of inflammatory bowel disease (IBD). This article explores the intricate details of the gastrointestinal microbiome as it pertains to inflammatory bowel disease (IBD), with an emphasis on the Middle East. The study reviews the typical gut microbiome, modifications in inflammatory bowel disease (IBD), determinants impacting the gut microbiome of the Middle East, and prospective therapeutic interventions. Full article

(This article belongs to the Special Issue The Gut Microbiome as a Target for the Treatment of Inflammatory Bowel Diseases)

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15 pages, 2873 KiB

Open AccessArticle

Mobile App for Enhanced Anterior Cruciate Ligament (ACL) Assessment in Conscious Subjects: “Pivot-Shift Meter”

by Edmundo Berumen-Nafarrate, Ivan Rene Ramos-Moctezuma, Luis Raúl Sigala-González, Fatima Norely Quintana-Trejo, Jesus Javier Tonche-Ramos, Nadia Karina Portillo-Ortiz, Carlos Eduardo Cañedo-Figueroa and Arturo Aguirre-Madrid

J. Pers. Med. 2024, 14(6), 651; https://doi.org/10.3390/jpm14060651 - 18 Jun 2024

Cited by 1 | Viewed by 1067

Abstract

Anterior cruciate ligament (ACL) instability poses a considerable challenge in traumatology and orthopedic medicine, demanding precise diagnostics for optimal treatment. The pivot-shift test, a pivotal assessment tool, relies on subjective interpretation, emphasizing the need for supplementary imaging. This study addresses this limitation by [...] Read more.

Anterior cruciate ligament (ACL) instability poses a considerable challenge in traumatology and orthopedic medicine, demanding precise diagnostics for optimal treatment. The pivot-shift test, a pivotal assessment tool, relies on subjective interpretation, emphasizing the need for supplementary imaging. This study addresses this limitation by introducing a machine learning classification algorithm integrated into a mobile application, leveraging smartphones’ built-in inertial sensors for dynamic rotational stability assessment during knee examinations. Orthopedic specialists conducted knee evaluations on a cohort of 52 subjects, yielding valuable insights. Quantitative analyses, employing the Intraclass Correlation Coefficient (ICC), demonstrated robust agreement in both intraobserver and interobserver assessments. Specifically, ICC values of 0.94 reflected strong concordance in the timing between maneuvers, while signal amplitude exhibited consistency, with the ICC ranging from 0.71 to 0.66. The introduced machine learning algorithms proved effective, accurately classifying 90% of cases exhibiting joint hypermobility. These quantifiable results underscore the algorithm’s reliability in assessing knee stability. This study emphasizes the practicality and effectiveness of implementing machine learning algorithms within a mobile application, showcasing its potential as a valuable tool for categorizing signals captured by smartphone inertial sensors during the pivot-shift test. Full article

(This article belongs to the Topic Orthopaedic Diseases and Innovative Intervention Strategies, 2nd Volume)

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13 pages, 300 KiB

Open AccessEditor’s ChoiceArticle

Assessing Nutritional Deficiencies in Bariatric Surgery Patients: A Comparative Study of Roux-en-Y Gastric Bypass versus Sleeve Gastrectomy

by José P. Vieira de Sousa, Hugo Santos-Sousa, Sofia Vieira, Rita Nunes, Jorge Nogueiro, André Pereira, Fernando Resende, André Costa-Pinho, John Preto, Bernardo Sousa-Pinto, Silvestre Carneiro and Eduardo Lima-da-Costa

J. Pers. Med. 2024, 14(6), 650; https://doi.org/10.3390/jpm14060650 - 18 Jun 2024

Cited by 9 | Viewed by 3731

Abstract

Obesity is a worldwide epidemic, and bariatric surgery is considered the primary treatment for long-term weight loss and managing obesity-related health issues. Sleeve gastrectomy (SG) and Roux-en-Y gastric bypass (RYGB) are the most performed procedures. Nutritional deficiencies are a significant concern following bariatric [...] Read more.

Obesity is a worldwide epidemic, and bariatric surgery is considered the primary treatment for long-term weight loss and managing obesity-related health issues. Sleeve gastrectomy (SG) and Roux-en-Y gastric bypass (RYGB) are the most performed procedures. Nutritional deficiencies are a significant concern following bariatric surgery and can have serious consequences. This study aims to compare the incidence of nutritional deficiencies in patients undergoing RYGB and SG. A retrospective analysis was conducted on the nutritional status of 505 consecutive patients who underwent either RYGB or SG between January and December 2019. Data were collected regarding vitamin B12, folic acid, vitamin D, calcium, PTH, magnesium, hemoglobin, iron, ferritin, and transferrin at preoperative, 6-month, and 12-month intervals post-surgery. The RYGB group showed significantly higher excess weight loss. Vitamin B12, hemoglobin, and ferritin levels were consistently higher in the SG group throughout the study. Vitamin D deficiency was prevalent, with no significant difference between the groups. Vitamin B12 deficiency was significantly more common in the RYGB group (6 months: 17.46% vs. 4.69%, p < 0.001; 12 months: 16.74% vs. 0.93%, p < 0.001). Despite differences in their mechanisms, bariatric surgeries were associated with nutritional deficiencies. It is crucial to efficiently assess, prevent, and manage these deficiencies tailored to each surgical procedure. Full article

(This article belongs to the Special Issue New Advances and Challenges in Metabolic and Bariatric Surgery)

11 pages, 1290 KiB

Open AccessArticle

A Genome-Wide Association Study of Oxypurinol Concentrations in Patients Treated with Allopurinol

by Maxime Meloche, Marc-Olivier Pilon, Sylvie Provost, Grégoire Leclair, Essaïd Oussaïd, Isabelle St-Jean, Martin Jutras, Marie-Josée Gaulin, Louis-Philippe Lemieux Perreault, Diane Valois, Ian Mongrain, David Busseuil, Jean-Lucien Rouleau, Jean-Claude Tardif, Marie-Pierre Dubé and Simon de Denus

J. Pers. Med. 2024, 14(6), 649; https://doi.org/10.3390/jpm14060649 - 18 Jun 2024

Viewed by 1526

Abstract

Cohort studies have identified several genetic determinants that could predict the clinical response to allopurinol. However, they have not been commonly used for genome-wide investigations to identify genetic determinants on allopurinol metabolism and concentrations. We conducted a genome-wide association study of a prior [...] Read more.

Cohort studies have identified several genetic determinants that could predict the clinical response to allopurinol. However, they have not been commonly used for genome-wide investigations to identify genetic determinants on allopurinol metabolism and concentrations. We conducted a genome-wide association study of a prior cross-sectional investigation of patients from the Montreal Heart Institute Biobank undergoing allopurinol therapy. Four endpoints were investigated, namely plasma concentrations of oxypurinol, the active metabolite of allopurinol, allopurinol, and allopurinol-riboside, as well as allopurinol daily dosing. A total of 439 participants (mean age 69.4 years; 86.4% male) taking allopurinol (mean daily dose 194.5 mg) and who had quantifiable oxypurinol concentrations were included in the genome-wide analyses. Participants presented with multiple comorbidities and received concomitant cardiovascular medications. No association achieved the predefined genome-wide threshold values for any of the endpoints (all p > 5 × 10⁻⁸). Our results are consistent with prior findings regarding the difficulty in identifying genetic determinants of drug concentrations or pharmacokinetics of allopurinol and its metabolites, as well as allopurinol daily dosing. Given the size of this genome-wide study, collaborative investigations involving larger and diverse cohorts may be required to further identify pharmacogenomic determinants of allopurinol and measure their clinical relevance to personalize allopurinol therapy. Full article

(This article belongs to the Special Issue Pharmacogenomics of Drug Metabolism and Pharmacokinetics)

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15 pages, 7265 KiB

Open AccessCommunication

SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland

by Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié and Anita Rauch

J. Pers. Med. 2024, 14(6), 648; https://doi.org/10.3390/jpm14060648 - 17 Jun 2024

Viewed by 1519

Abstract

Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and time-consuming evidence curation. The scale of the interpretation problem is massive, and variants of uncertain significance [...] Read more.

Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and time-consuming evidence curation. The scale of the interpretation problem is massive, and variants of uncertain significance (VUSs) are a challenge to personalized medicine. This challenge is further compounded by the complexity and heterogeneity of the standards used to describe genetic variants and the associated phenotypes when searching for relevant information to support clinical decision making. To address this, all five Swiss academic institutions for Medical Genetics joined forces with the Swiss Institute of Bioinformatics (SIB) to create SwissGenVar as a user-friendly nationwide repository and sharing platform for genetic variant data generated during routine diagnostic procedures and research sequencing projects. Its aim is to provide a protected environment for expert evidence sharing about individual variants to harmonize and upscale their significance interpretation at the clinical grade according to international standards. To corroborate the clinical assessment, the variant-related data will be combined with consented high-quality clinical information. Broader visibility will be achieved by interfacing with international databases, thus supporting global initiatives in personalized healthcare. Full article

(This article belongs to the Topic Public Health and Healthcare in the Context of Big Data)

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15 pages, 1403 KiB

Open AccessReview

Artificial Intelligence Used for Diagnosis in Facial Deformities: A Systematic Review

by Victor Ravelo, Julio Acero, Jorge Fuentes-Zambrano, Henry García Guevara and Sergio Olate

J. Pers. Med. 2024, 14(6), 647; https://doi.org/10.3390/jpm14060647 - 17 Jun 2024

Cited by 1 | Viewed by 2404

Abstract

AI is included in a lot of different systems. In facial surgery, there are some AI-based software programs oriented to diagnosis in facial surgery. This study aims to evaluate the capacity and training of models for diagnosis of dentofacial deformities in class II [...] Read more.

AI is included in a lot of different systems. In facial surgery, there are some AI-based software programs oriented to diagnosis in facial surgery. This study aims to evaluate the capacity and training of models for diagnosis of dentofacial deformities in class II and class III patients using artificial intelligence and the potential use for indicating orthognathic surgery. The search strategy is from 1943 to April 2024 in PubMed, Embase, Scopus, Lilacs, and Web of Science. Studies that used imaging to assess anatomical structures, airway volume, and craniofacial positions using the AI algorithm in the human population were included. The methodological quality of the studies was assessed using the Effective Public Health Practice Project instrument. The systematic search identified 697 articles. Eight studies were obtained for descriptive analysis after exclusion according to our inclusion and exclusion criteria. All studies were retrospective in design. A total of 5552 subjects with an age range between 14.7 and 56 years were obtained; 2474 (44.56%) subjects were male, and 3078 (55.43%) were female. Six studies were analyzed using 2D imaging and obtained highly accurate results in diagnosing skeletal features and determining the need for orthognathic surgery, and two studies used 3D imaging for measurement and diagnosis. Limitations of the studies such as age, diagnosis in facial deformity, and the included variables were observed. Concerning the overall analysis bias, six studies were at moderate risk due to weak study designs, while two were at high risk of bias. We can conclude that, with the few articles included, using AI-based software allows for some craniometric recognition and measurements to determine the diagnosis of facial deformities using mainly 2D analysis. However, it is necessary to perform studies based on three-dimensional images, increase the sample size, and train models in different populations to ensure accuracy of AI applications in this field. After that, the models can be trained for dentofacial diagnosis Full article

(This article belongs to the Special Issue State-of-the-Art in Precision Medicine of Plastic Surgery)

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16 pages, 275 KiB

Open AccessArticle

The Relationship between the Laboratory Biomarkers of SARS-CoV-2 Patients with Type 2 Diabetes at Discharge and the Severity of the Viral Pathology

by Patricia-Andrada Reștea, Ștefan Țigan, Laura Grațiela Vicaș, Luminita Fritea, Mariana Eugenia Mureșan, Felicia Manole and Daniela Elisabeta Berdea

J. Pers. Med. 2024, 14(6), 646; https://doi.org/10.3390/jpm14060646 - 17 Jun 2024

Viewed by 1345

Abstract

In this study, we evaluated the discharge status of patients with type 2 diabetes mellitus and SARS-CoV-2 infection, focusing on the inflammatory profile through biomarkers such as procalcitonin, CRP, LDH, fibrinogen, ESR, and ferritin, as well as electrolyte levels and the prior diagnosis [...] Read more.

In this study, we evaluated the discharge status of patients with type 2 diabetes mellitus and SARS-CoV-2 infection, focusing on the inflammatory profile through biomarkers such as procalcitonin, CRP, LDH, fibrinogen, ESR, and ferritin, as well as electrolyte levels and the prior diagnosis of diabetes or its identification at the time of hospitalization. We assessed parameters at discharge for 45 patients admitted to the Clinical Hospital “Gavril Curteanu” Oradea between 21 October 2021, and 31 December 2021, randomly selected, having as the main inclusion criteria the positive RT-PCR rapid antigen test for viral infection and the diagnosis of type 2 diabetes. At discharge, patients with type 2 diabetes registered significantly lower mean procalcitonin levels among those who survived compared to those who died from COVID-19. In our study, ferritin and hemoglobin values in individuals with type 2 diabetes were outside the reference range at discharge and correlated with severe or moderate forms of COVID-19 infection. Additionally, elevated ferritin levels at discharge were statistically associated with hypokalemia and elevated levels of ESR at discharge. Another strong statistically significant correlation was identified between high CRP levels at discharge, strongly associated (p < 0.001) with elevated LDH and fibrinogen levels in patients with type 2 diabetes and SARS-CoV-2 viral infection. The increase in CRP was inversely statistically associated with the tendency of serum potassium to decrease at discharge in patients with type 2 diabetes and COVID-19. Identifying type 2 diabetes metabolic pathology at the time of hospitalization for SARS-CoV-2 infection, compared to pre-infection diabetes diagnosis, did not significantly influence the laboratory parameter status at the time of discharge. At the discharge of patients with type 2 diabetes and viral infection with the novel coronavirus, procalcitonin was significantly reduced in those who survived COVID-19 infection, and disease severity was significantly correlated with hyperferritinemia and decreased hemoglobin at discharge. Hyperferritinemia in patients with type 2 diabetes and COVID-19 at discharge was associated with hypokalemia and persistent inflammation (quantified by ESR at discharge). The low number of erythrocytes at discharge is associated with maintaining inflammation at discharge (quantified by the ESR value). Full article

(This article belongs to the Section Disease Biomarker)

11 pages, 2492 KiB

Open AccessBrief Report

Effects of NF-κB Inhibitor on Sepsis Depend on the Severity and Phase of the Animal Sepsis Model

by Ye Jin Park, Jinkun Bae, Jae-Kwang Yoo, So-Hee Ahn, Seon Young Park, Yun-Seok Kim, Min Ji Lee, Seon Young Moon, Tae Nyoung Chung, Chulhee Choi and Kyuseok Kim

J. Pers. Med. 2024, 14(6), 645; https://doi.org/10.3390/jpm14060645 - 17 Jun 2024

Viewed by 1503

Abstract

Hyperinflammation occurs in sepsis, especially in the early phase, and it could have both positive and negative effects on sepsis. Previously, we showed that a new concept of NF-κB inhibitor, exosome-based super-repressor IκBα (Exo-srIκB) delivery, has a beneficial effect on sepsis. Here, we [...] Read more.

Hyperinflammation occurs in sepsis, especially in the early phase, and it could have both positive and negative effects on sepsis. Previously, we showed that a new concept of NF-κB inhibitor, exosome-based super-repressor IκBα (Exo-srIκB) delivery, has a beneficial effect on sepsis. Here, we further investigate the therapeutic effects of Exo-srIκB at different severities and phases of sepsis using an animal polymicrobial intra-abdominal infection model. We used a rat model of fecal slurry polymicrobial sepsis. First, we determined the survival effects of Exo-srIκB on sepsis according to the severity. We used two different severities of the animal sepsis model. The severe model had a mortality rate of over 50%. The mild/moderate model had a less than 30% mortality rate. Second, we administered the Exo-srIκB at various time points (1 h, 6 h, and 24 h after fecal slurry administration) to determine the therapeutic effect of Exo-srIκB at different phases of sepsis. Lastly, we determined the effects of the Exo-srIκB on cytokine production, arterial blood gas, electrolyte, and lactate. The survival gain was statistically significant in the severe sepsis model when Exo-srIκB was administered 6 h after sepsis. Interleukin 6 and interleukin-10 were significantly decreased in the kidney when administered with Exo-srIκB. The laboratory data showed that lactate, glucose, and potassium levels were significantly lowered in the NF-κB inhibitor group. In conclusion, Exo-srIκB exhibited a beneficial therapeutic effect when administered 6 h post fecal slurry administration in a severe sepsis model. Full article

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

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10 pages, 228 KiB

Open AccessReview

Unveiling the Hidden Perils: A Comprehensive Review of Fungal Infections in Inflatable Penile Prosthesis Surgery

by Anastasios Natsos, Vasileios Tatanis, Alexandra Lekkou, Stavros Kontogiannis, Athanasios Vagionis, Theodoros Spinos, Angelis Peteinaris, Mohammed Obaidat, Konstantinos Pagonis, Panagiotis Kallidonis, Evangelos Liatsikos and Petros Drettas

J. Pers. Med. 2024, 14(6), 644; https://doi.org/10.3390/jpm14060644 - 16 Jun 2024

Viewed by 1322

Abstract

Inflatable penile prosthesis (IPP) surgery is an effective treatment for erectile dysfunction (ED), but infections pose a significant threat to its success. Current guidelines lack antifungal recommendations, despite rising fungal infection rates post-IPP surgery. This review examines epidemiology, risk factors (including diabetes mellitus, [...] Read more.

Inflatable penile prosthesis (IPP) surgery is an effective treatment for erectile dysfunction (ED), but infections pose a significant threat to its success. Current guidelines lack antifungal recommendations, despite rising fungal infection rates post-IPP surgery. This review examines epidemiology, risk factors (including diabetes mellitus, immunosuppression, and obesity), and pathogenesis, highlighting the role of biofilm formation in device contamination. Clinical manifestations vary from acute to delayed, with fungal biofilms presenting challenges in diagnosis. Prophylactic strategies, including broad-spectrum antibiotics and antifungals, are crucial, with evidence suggesting a 92% reduction in infections. With fungal infections showing lower salvage rates, management involves culture-guided treatment, irrigation, and oral antibiotics. Future research aims to understand biofilm mechanisms and develop biomaterials to reduce infection rates. Implementing antifungal therapy, along with standard practices like the no-touch technique and antibiotic dips, is crucial in preventing IPP infections. Full article

(This article belongs to the Special Issue Advances in Treatment of Urinary Bladder Cancer)

12 pages, 810 KiB

Open AccessArticle

Development of a Simple Scoring System for Predicting Discharge Safety from the Medical ICU to Low-Acuity Wards: The Role of the Sequential Organ Failure Assessment Score, Albumin, and Red Blood Cell Distribution Width

by Chang Hwan Seol, Min Dong Sung, Shihwan Chang, Bo Ra Yoon, Yun Ho Roh, Ji Eun Park and Kyung Soo Chung

J. Pers. Med. 2024, 14(6), 643; https://doi.org/10.3390/jpm14060643 - 16 Jun 2024

Cited by 1 | Viewed by 1422

Abstract

Despite advancements in artificial intelligence-based decision-making, transitioning patients from intensive care units (ICUs) to low-acuity wards is challenging, especially in resource-limited settings. This study aimed to develop a simple scoring system to predict ICU discharge safety. We retrospectively analyzed patients admitted to a [...] Read more.

Despite advancements in artificial intelligence-based decision-making, transitioning patients from intensive care units (ICUs) to low-acuity wards is challenging, especially in resource-limited settings. This study aimed to develop a simple scoring system to predict ICU discharge safety. We retrospectively analyzed patients admitted to a tertiary hospital’s medical ICU (MICU) between July 2016 and December 2021. This period was divided into two phases for model development and validation. We identified risk factors associated with unexpected death within 14 days of MICU discharge and developed a predictive scoring system that incorporated these factors. We verified the system’s performance using validation data. In the development cohort, 522 patients were discharged from the MICU, and 42 (8.04%) died unexpectedly. In multivariate analysis, the Sequential Organ Failure Assessment (SOFA) score (odds ratio [OR] 1.26, 95% confidence interval [CI] 1.13–1.41), red blood cell distribution width (RDW) (OR 1.20, 95% CI 1.07–1.36), and albumin (OR 0.37, 95% CI 0.16–0.84) were predictors of unexpected death. Each variable was assigned a weighted point in the scoring system, and the area under the curve (AUC) was 0.788 (95% CI 0.714–0.855). The scoring system was performed using an AUC of 0.738 (95% CI 0.653–0.822) in the validation cohort of 343 patients with 9.62% of unexpected deaths. When a cut-off of 0.032 was applied, a sensitivity and a specificity of 81.8% and 55.2%, respectively, were achieved. This simple bedside predictive score for ICU discharge uses the SOFA score, albumin level, and RDW to aid in timely decision-making and optimize critical care facility allocation in resource-limited settings. Full article

(This article belongs to the Special Issue New Perspectives of Critical Care Medicine)

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11 pages, 921 KiB

Open AccessArticle

Predictive Value of Ultrasound-Measured Quadriceps Depth and Frailty Status for Hypotension in Older Patients Undergoing Reverse Total Shoulder Arthroplasty in the Beach Chair Position under General Anesthesia

by Sang-Mee An, Hyun Jung Lee, Jae Hee Woo, Ji Seon Chae and Sang-jin Shin

J. Pers. Med. 2024, 14(6), 642; https://doi.org/10.3390/jpm14060642 - 16 Jun 2024

Cited by 1 | Viewed by 1271

Abstract

The beach chair position (BCP) is widely used in shoulder surgery; however, it frequently leads to hypotension. Hypotension in BCP is prevalent among older patients who are at risk of secondary complications such as ischemic injuries. Therefore, this prospective study aimed to investigate [...] Read more.

The beach chair position (BCP) is widely used in shoulder surgery; however, it frequently leads to hypotension. Hypotension in BCP is prevalent among older patients who are at risk of secondary complications such as ischemic injuries. Therefore, this prospective study aimed to investigate the association and predictive value of frailty, as assessed by ultrasound-measured quadriceps depth and questionnaire, in patients aged ≥65 years undergoing elective shoulder surgery under general anesthesia. A multivariable logistic regression analysis was performed to identify independent risk factors for hypotension in BCP under general anesthesia. Receiver operating characteristic curves were constructed to assess the predictive values of various parameters. The results indicated that a quadriceps depth < 2.3 cm and BCP for an extended period significantly increased the risk of hypotension. The combined consideration of quadriceps depth < 2.3 cm and frailty demonstrated markedly superior predictive power compared with each factor individually. In conclusion, the study findings facilitate the screening and identification of risk factors for older patients undergoing surgery in BCP, thereby enhancing perioperative management. Full article

(This article belongs to the Special Issue Anesthesiology and Pain Management in Clinical Medicine)

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16 pages, 931 KiB

Open AccessCase Report

Reversal of Autism Symptoms among Dizygotic Twins through a Personalized Lifestyle and Environmental Modification Approach: A Case Report and Review of the Literature

by Christopher R. D’Adamo, Josephine L. Nelson, Sara N. Miller, Maria Rickert Hong, Elizabeth Lambert and Heather Tallman Ruhm

J. Pers. Med. 2024, 14(6), 641; https://doi.org/10.3390/jpm14060641 - 15 Jun 2024

Cited by 1 | Viewed by 57834

Abstract

The prevalence of autism has been increasing at an alarming rate. Even accounting for the expansion of autism spectrum disorder diagnostic (ASD) criteria throughout the 1990’s, there has been an over 300% increase in ASD prevalence since the year 2000. The often debilitating [...] Read more.

The prevalence of autism has been increasing at an alarming rate. Even accounting for the expansion of autism spectrum disorder diagnostic (ASD) criteria throughout the 1990’s, there has been an over 300% increase in ASD prevalence since the year 2000. The often debilitating personal, familial, and societal sequelae of autism are generally believed to be lifelong. However, there have been several encouraging case reports demonstrating the reversal of autism diagnoses, with a therapeutic focus on addressing the environmental and modifiable lifestyle factors believed to be largely underlying the condition. This case report describes the reversal of autism symptoms among dizygotic, female twin toddlers and provides a review of related literature describing associations between modifiable lifestyle factors, environmental exposures, and various clinical approaches to treating autism. The twins were diagnosed with Level 3 severity ASD “requiring very substantial support” at approximately 20 months of age following concerns of limited verbal and non-verbal communication, repetitive behaviors, rigidity around transitions, and extensive gastrointestinal symptoms, among other common symptoms. A parent-driven, multidisciplinary, therapeutic intervention involving a variety of licensed clinicians focusing primarily on addressing environmental and modifiable lifestyle factors was personalized to each of the twin’s symptoms, labs, and other outcome measures. Dramatic improvements were noted within several months in most domains of the twins’ symptoms, which manifested in reductions of Autism Treatment Evaluation Checklist (ATEC) scores from 76 to 32 in one of the twins and from 43 to 4 in the other twin. The improvement in symptoms and ATEC scores has remained relatively stable for six months at last assessment. While prospective studies are required, this case offers further encouraging evidence of ASD reversal through a personalized, multidisciplinary approach focusing predominantly on addressing modifiable environmental and lifestyle risk factors. Full article

(This article belongs to the Special Issue A Personalized Medicine Approach to the Diagnosis and Management of Autism Spectrum Disorder: Beyond Genetic Syndromes)

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8 pages, 1697 KiB

Open AccessCommunication

Therapeutic Apheresis Using a β2-Microglobulin Removal Column Reduces Circulating Tumor Cell Count

by Yasuo Komura, Shintarou Kimura, Ayana Takaura, Yumi Hirasawa, Katsunori Segawa, Hiromi Muranishi, Osamu Imataki, Yoshihisa Kumayama and Koichiro Homma

J. Pers. Med. 2024, 14(6), 640; https://doi.org/10.3390/jpm14060640 - 15 Jun 2024

Viewed by 1981

Abstract

An elevated serum β2-microglobulin (β2M) level is indicative of impaired glomerular filtration and prerenal diseases, such as malignant tumors, autoimmune disorders, and liver diseases. An elevated serum β2M level has been shown to promote metastasis via the induction of epithelial–mesenchymal transition (EMT) in [...] Read more.

An elevated serum β2-microglobulin (β2M) level is indicative of impaired glomerular filtration and prerenal diseases, such as malignant tumors, autoimmune disorders, and liver diseases. An elevated serum β2M level has been shown to promote metastasis via the induction of epithelial–mesenchymal transition (EMT) in cancer cells. However, the therapeutic potential of targeting β2M remains unclear. Here, we aimed to investigate the efficacy of Filtor, a small polymethyl methacrylate fiber-based β2M removal column, in reducing the β2M level and suppressing cancer cell-induced EMT and metastasis. We assessed the effects of Filtor on the changes in metastasis based on the number of circulating tumor cells (CTCs), which reflects the post-EMT cancer cell population. We performed therapeutic apheresis using Filtor on a male patient with sinonasal neuroendocrine carcinoma, a female patient with a history of colorectal cancer, and another female patient with a history of pancreatic ductal adenocarcinoma. Significantly low serum β2M levels and CTC counts were observed immediately and 4 weeks after treatment compared with those in the pretreatment phase. Moreover, the CTC count immediately after therapeutic intervention was markedly reduced, likely because Filtor had trapped CTCs directly. These findings suggest that therapeutic apheresis with Filtor can prevent cancer metastasis and recurrence by directly removing CTCs. Full article

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

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8 pages, 1054 KiB

Open AccessCase Report

Genomic and Transcriptomic Analysis of a Patient with Early-Onset Colorectal Cancer and Therapy-Induced Focal Nodular Hyperplasia: A Case Report

by Mary O’Reilly, Aleksandar Krstic, Luis F. Iglesias-Martinez, Éanna J. Ryan, Bruce Moran, Des Winter, Kieran Sheahan, Ray McDermott and Walter Kolch

J. Pers. Med. 2024, 14(6), 639; https://doi.org/10.3390/jpm14060639 - 15 Jun 2024

Cited by 2 | Viewed by 1858

Abstract

Early-onset colorectal cancer (EOCRC), defined as colorectal cancer in individuals under 50 years of age, has shown an alarming increase in incidence worldwide. We report a case of a twenty-four-year-old female with a strong family history of colorectal cancer (CRC) but without an [...] Read more.

Early-onset colorectal cancer (EOCRC), defined as colorectal cancer in individuals under 50 years of age, has shown an alarming increase in incidence worldwide. We report a case of a twenty-four-year-old female with a strong family history of colorectal cancer (CRC) but without an identified underlying genetic predisposition syndrome. Two years after primary surgery and adjuvant chemotherapy, the patient developed new liver lesions. Extensive diagnostic imaging was conducted to investigate suspected liver metastases, ultimately leading to a diagnosis of focal nodular hyperplasia. The young age of the patient has prompted comprehensive genomic and transcriptomic profiling in order to identify potential oncogenic drivers and inform further clinical management of the patient. Besides a number of oncogenic mutations identified in the patient’s tumour sample, including KRAS G12D, TP53 R248W and TTN L28470V, we have also identified a homozygous deletion of 24.5 MB on chromosome 8. A multivariate Cox regression analysis of this patient’s mutation profile conferred a favourable prognosis when compared with the TCGA COADREAD database. Notably, the identified deletion on chromosome 8 includes the WRN gene, which could contribute to the patient’s overall positive response to chemotherapy. The complex clinical presentation, including the need for emergency surgery, early age at diagnosis, strong family history, and unexpected findings on surveillance imaging, necessitated a multidisciplinary approach involving medical, radiation, and surgical oncologists, along with psychological support and reproductive medicine specialists. Molecular profiling of the tumour strongly indicates that patients with complex mutational profile and rare genomic rearrangements require a prolonged surveillance and personalised informed interventions. Full article

(This article belongs to the Special Issue Genetics, Genomics, and Precision Medicine in Colorectal Cancer)

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19 pages, 676 KiB

Open AccessCase Report

The Weight of Bariatric Surgery: Wernicke–Korsakoff Syndrome after Vertical Sleeve Gastrectomy—A Case Series

by Melissa Gutiérrez-Rey, Lily Castellar-Visbal, Kaleb Acevedo-Vergara, José Vargas-Manotas, Diego Rivera-Porras, Gloria Londoño-Juliao, Brenda Castillo-Guerrero, María-Camila Perdomo-Jiménez and Valmore Bermúdez

J. Pers. Med. 2024, 14(6), 638; https://doi.org/10.3390/jpm14060638 - 14 Jun 2024

Cited by 3 | Viewed by 1842

Abstract

In this case series, the simultaneous occurrence of Wernicke’s encephalopathy (WE) and dry beriberi was reported in three patients who underwent vertical sleeve gastrectomy (VSG) between May 2021 and May 2023. All patients were obese women who underwent vertical sleeve gastrectomy (VSG) without [...] Read more.

In this case series, the simultaneous occurrence of Wernicke’s encephalopathy (WE) and dry beriberi was reported in three patients who underwent vertical sleeve gastrectomy (VSG) between May 2021 and May 2023. All patients were obese women who underwent vertical sleeve gastrectomy (VSG) without immediate postoperative complications, but two weeks later, hyperemesis and subsequent encephalopathy with ocular movement abnormalities and weakness were observed over the following thirty days. Patients were referred to neurology, where due to the high suspicion of WE, thiamine replacement therapy was initiated; meanwhile, diagnostic neuroimaging and blood tests were conducted. Neurological and psychiatric evaluations and neuroconduction studies were performed to assess the clinical evolution and present sequelae. One year after diagnosis, all patients exhibited affective and behavioral sequelae, anterograde memory impairment, and executive functioning deficits. Two patients met the criteria for Korsakoff syndrome. Additionally, peripheral nervous system sequelae were observed, with all patients presenting with sensorimotor polyneuropathy. In conclusion, Wernicke’s encephalopathy requires a high diagnostic suspicion for timely intervention and prevention of irreversible sequelae, which can be devastating. Therefore, raising awareness among medical professionals regarding the significance of this disease is essential. Full article

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

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13 pages, 1727 KiB

Open AccessArticle

Clinical High-Resolution Imaging of the Inner Ear by Using Magnetic Resonance Imaging (MRI) and Cone Beam Computed Tomography (CBCT)

by Tomislav Santek, Erich Hofmann, Christian Milewski, Konrad Schwager and Andreas Prescher

J. Pers. Med. 2024, 14(6), 637; https://doi.org/10.3390/jpm14060637 - 14 Jun 2024

Viewed by 1822

Abstract

Purpose: Imaging of the delicate inner ear morphology has become more and more precise owing to the rapid progress in magnetic resonance imaging (MRI). However, in clinical practice, the interpretation of imaging findings is hampered by a limited knowledge of anatomical details which [...] Read more.

Purpose: Imaging of the delicate inner ear morphology has become more and more precise owing to the rapid progress in magnetic resonance imaging (MRI). However, in clinical practice, the interpretation of imaging findings is hampered by a limited knowledge of anatomical details which are frequently obscured by artifacts. Corresponding review articles are as rare in journals as they are in reference books. This shortness prompted us to perform a direct comparison of imaging with anatomical whole-mount sections as a reference. It was the intention of this paper to compare the microscopic anatomy of a human inner ear as shown on anatomical whole-mount sections with high-resolution MRI and cone beam computed tomography (CBCT). Both are available in clinical routine and depict the structures with maximum spatial resolution. It was also a goal of this work to clarify if structures that were observed on MRI in a regular manner correlate with factual inner ear anatomy or correspond with artifacts typical for imaging. Methods: A fresh human anatomical specimen was examined on a clinical 3-Tesla MRI scanner using a dedicated surface coil. The same specimen was then studied with CBCT. In each imaging modality, high-resolution 3D data sets which enabled multiplanar reformatting were created. In the second step, anatomical whole-mount sections of the specimen were cut and stained. This process enabled a direct comparison of imaging with anatomical conditions. Results: Clinical MRI was able to depict the inner ear with remarkable anatomical precision. Strongly T2-weighted imaging protocols are exquisitely capable of showing the fluid-filled components of the inner ear. The macular organs, ampullar crests and cochlear aqueduct were clearly visible. Truncation artifacts are prone to be confused with the delicate membrane separating the endolymphatic from the perilymphatic compartment. However, it was not possible to directly depict this borderline. Conclusions: With the maximum resolution of magnetic resonance tomography, commonly used in everyday clinical practice, even the smallest details of the inner ear structures can be reliably displayed. However, it is important to distinguish between truncation artifacts and true anatomical structures. Therefore, this study can be useful as a reference for image analysis. Full article

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

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15 pages, 1094 KiB

Open AccessReview

ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia

by John O. Ogunbileje, Neil Harris, Tung Wynn, Reema Kashif, Brian Stover and Bremansu Osa-Andrews

J. Pers. Med. 2024, 14(6), 636; https://doi.org/10.3390/jpm14060636 - 14 Jun 2024

Viewed by 1851

Abstract

The ATP-binding cassette (ABC) transporters are a vast group of 48 membrane proteins, some of which are of notable physiological and clinical importance. Some ABC transporters are involved in functions such as the transport of chloride ions, bilirubin, reproductive hormones, cholesterol, and iron. [...] Read more.

The ATP-binding cassette (ABC) transporters are a vast group of 48 membrane proteins, some of which are of notable physiological and clinical importance. Some ABC transporters are involved in functions such as the transport of chloride ions, bilirubin, reproductive hormones, cholesterol, and iron. Consequently, genetic or physiological disruption in these functions is manifested in various disease processes like cystic fibrosis, Tangier disease, and sideroblastic anemia. Among other etiologies, primary sideroblastic anemia results from a genetic mutation in the ATP-binding cassette-7 (ABCB7), a member of the ABC transporter family. There are not many articles specifically tackling the disease processes caused by ABC transporters in detail. Some testing methodologies previously reported in the available literature for investigating sideroblastic anemia need updating. Here, we expound on the relevance of ABCB7 as a clinically important ABC transporter and a rare participant in the disease process of Sideroblastic anemia. The other genetic and secondary etiologies of sideroblastic anemia, which do not involve mutations in the ABCB7 protein, are also described. We review the pathophysiology, clinical course, symptoms, diagnosis, and treatment of sideroblastic anemia with a focus on modern technologies for laboratory testing. Full article

(This article belongs to the Special Issue Pharmacogenomics from Research to Current Practice)

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15 pages, 1426 KiB

Open AccessArticle

Low-Carbon Monoxide Diffusing Capacity, Patient-Reported Measures and Reduced Nailfold Capillary Density Are Associated with Interstitial Lung Disease in Systemic Sclerosis

by Rossella De Angelis, Edoardo Cipolletta, Francesca Francioso, Marina Carotti, Sonia Farah, Andrea Giovagnoni and Fausto Salaffi

J. Pers. Med. 2024, 14(6), 635; https://doi.org/10.3390/jpm14060635 - 14 Jun 2024

Viewed by 1002

Abstract

The aim of this paper is to identify factors associated with interstitial lung disease (ILD) in patients with systemic sclerosis (SSc) and build an algorithm to better define this association for a personalised application in clinical practice. Methods. A total of 78 SSc [...] Read more.

The aim of this paper is to identify factors associated with interstitial lung disease (ILD) in patients with systemic sclerosis (SSc) and build an algorithm to better define this association for a personalised application in clinical practice. Methods. A total of 78 SSc patients underwent HRCT to assess ILD. Demographic, clinical and laboratory variables were collected, focusing on those associated either directly or indirectly with lung involvement. The discriminant value of each variable was determined using the operating characteristic curves (ROC) and included in a model to estimate the strength of ILD association in SSc. Results. Thirty-three (42.31%) patients showed ILD on HRCT. DLco, M-Borg, GERD-Q and capillary density were significantly associated with the presence of ILD-SSc. A model including these variables had a coefficient of determination (R²) of 0.697. DLco had an AUC of 0.861 (p < 0.001) with a cut-off of ≤72.3% (sensitivity 78.8%, specificity 91.1%, +LR 8.86). The m-Borg Scale showed an AUC of 0.883 (p < 0.001) with a cut-off >2 (sensitivity 84.8%, specificity 82.2%, +LR 4.77), GERD-Q had an AUC of 0.815 (p < 0.001) with a cut-off >7 (sensitivity 72.7%, specificity 86.7%, +LR 5.45). The capillary density showed an AUC of 0.815 (p < 0.001) with a cut-off of ≤4.78 (sensitivity 87.9%, specificity 68.9%, +LR 2.82). Based on the pre-test probability values, these four variables were applied to Fagan’s nomogram to calculate the post-test probability of this association. Conclusions. Our study identified four associated clinical factors of ILD in SSc patients. Moreover, their inclusion in an algorithm for the post-test probability, tailored to the specific patients’ characteristics, significantly increases the ability to find out the presence of SSc-ILD. Full article

(This article belongs to the Special Issue Personalized Medicine for Rheumatic Diseases)

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18 pages, 2584 KiB

Open AccessReview

Value-Based Health Care Implementation: The Case Study of mTBI Biomarkers

by Martina Zibetti, Chiara Di Resta, Giuseppe Banfi and Rossella Tomaiuolo

J. Pers. Med. 2024, 14(6), 634; https://doi.org/10.3390/jpm14060634 - 14 Jun 2024

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Abstract

Traumatic brain injury is a significant global health issue, affecting approximately 69 million people annually. Early diagnosis is crucial for effective management, and biomarkers provide a promising approach to identifying traumatic brain injury in various settings. This study investigates the perceived usefulness of [...] Read more.

Traumatic brain injury is a significant global health issue, affecting approximately 69 million people annually. Early diagnosis is crucial for effective management, and biomarkers provide a promising approach to identifying traumatic brain injury in various settings. This study investigates the perceived usefulness of biomarker testing in two distinct contexts: emergency departments and sports settings. Comprehensive interviews were conducted among healthcare professionals in emergency departments and sports-related medical staff. The interviews assessed their perceptions of the diagnostic accuracy, practicality, and overall value of traumatic brain injury biomarker testing. The findings indicate that the perceived usefulness of biomarker testing is high among professionals in both settings. However, significant differences emerged in the perceived barriers to implementation, with emergency department staff citing logistical issues and sports professionals expressing cost concerns. Addressing identified barriers could enhance the adoption and effectiveness of these tests, ultimately improving patient outcomes. Future research should focus on optimizing testing protocols and reducing implementation challenges. This study aims to evaluate the implementation of mild traumatic brain injury biomarkers within the framework of value-based health care, focusing on diagnostic accuracy and patient outcomes. Full article

(This article belongs to the Special Issue Advances in Diagnosis, Pathophysiology, and Therapy of Brain Injury)

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J. Pers. Med., Volume 14, Issue 6 (June 2024) – 118 articles

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