Medicina

31 pages, 370 KiB

Open AccessReview

The Adverse Effects of Tuberculosis Treatment: A Comprehensive Literature Review

by Rūta Mereškevičienė and Edvardas Danila

Medicina 2025, 61(5), 911; https://doi.org/10.3390/medicina61050911 (registering DOI) - 17 May 2025

Tuberculosis remains a significant public health challenge globally. The emergence of multidrug-resistant Mycobacterium tuberculosis strains presents one of the biggest hurdles in tuberculosis management. Both first- and second-line tuberculosis drugs are associated with common adverse reactions, which can lead to treatment interruptions and [...] Read more.

Tuberculosis remains a significant public health challenge globally. The emergence of multidrug-resistant Mycobacterium tuberculosis strains presents one of the biggest hurdles in tuberculosis management. Both first- and second-line tuberculosis drugs are associated with common adverse reactions, which can lead to treatment interruptions and decreased adherence. In this article, we review the most commonly used drugs for the treatment of tuberculosis, focusing on the adverse reactions they may cause. We will examine the frequency and timeline of adverse drug reactions involving gastrointestinal, cardiac, neurological, nephrological, and cutaneous systems. Identifying patients at risk of developing those reactions is crucial for healthcare providers to implement monitoring strategies and manage complications effectively. In the review, we present the data about risk factors, management recommendations, and drug discontinuation rates as a result of side effects. Full article

(This article belongs to the Special Issue Chronic Respiratory Diseases: Updates on Pathophysiology, Symptoms, Diagnosis and Treatment)

17 pages, 658 KiB

Open AccessArticle

Trends in Myocardial Infarction Morbidity and Mortality from Ischemic Heart Disease in Middle-Aged Lithuanian Population from 2000 to 2023: Data from Population-Based Kaunas Ischemic Heart Disease Register

by Ricardas Radisauskas, Lolita Sileikiene, Daina Kranciukaite-Butylkiniene, Sarunas Augustis, Erika Jasukaitiene, Dalia Luksiene, Abdonas Tamosiunas, Karolina Marcinkeviciene, Dalia Virviciute, Diana Zaliaduonyte and Gintare Sakalyte

Medicina 2025, 61(5), 910; https://doi.org/10.3390/medicina61050910 (registering DOI) - 17 May 2025

Abstract

Background and Objectives: Over the past decades, various epidemiological analyses have reported a significant decrease in the number of deaths related to cardiovascular diseases (CVDs). Trends in acute myocardial infarction (AMI) morbidity and mortality from ischemic heart disease (IHD) were less studied [...] Read more.

Background and Objectives: Over the past decades, various epidemiological analyses have reported a significant decrease in the number of deaths related to cardiovascular diseases (CVDs). Trends in acute myocardial infarction (AMI) morbidity and mortality from ischemic heart disease (IHD) were less studied in Eastern and Central Europe. This study aimed to determine and evaluate changes in AMI morbidity and mortality from IHD among the middle-aged urban Lithuanian population during 2000–2023. Materials and Methods: The data source was the Kaunas ischemic heart disease registry for residents aged 25–64. The diagnosis of AMI was based on the proposed epidemiological criteria used in the WHO MONICA project protocol. Age-standardized morbidity and mortality rates were calculated per 100,000 population. The changes in morbidity and mortality rates were calculated using the Joinpoint regression analysis method, and changes presented as a percentage estimate per year. Results: During 2000–2023, it was observed that age-standardized AMI morbidity significantly changed in the 25–64-year-old male and female population (−1.3%/yr., p = 0.006 and −2.3%/yr., p < 0.001, respectively). In males aged 25–54, a significant decrease in AMI morbidity rates by an average of 2.2%/yr. (p < 0.001) was found, contrary to the males aged 55–64, where morbidity was without substantial changes. We found a significant decrease in AMI morbidity in both age groups (the younger and older) of females, by 2.1%/yr. (p = 0.002) and 2.4%/yr. (p < 0.001), respectively. In the 25–64-year-old male population mortality from IHD significantly decreased (−2.0%/yr., p < 0.001), whereas in females it did not significantly change. Mortality from IHD in males aged 25–54 and 55–64 years significantly decreased by an average of 3.3%/yr. (p = 0.002) and 1.2%/yr., (p = 0.004), respectively. No significant trends in mortality from IHD in both age groups of females over the past 24 years were observed. Conclusions: During the study period, the age-standardized AMI morbidity among Kaunas middle-aged males and females significantly decreased. The age-standardized mortality from IHD decreased significantly among Kaunas middle-aged males, but there were no significant changes among females. Full article

(This article belongs to the Section Epidemiology & Public Health)

8 pages, 241 KiB

Open AccessArticle

Selective Versus Non-Selective Thoracic Fusion for Adolescent Idiopathic Scoliosis Lenke 1B/1C Curves: Multi-Center Clinical and Radiographic Analysis at 2-Year Follow-Up

by Yoshinari Miyaoka, Masashi Uehara, Tomohiro Banno, Shoji Seki, Tetsuro Ohba, Hiroki Oba, Shota Ikegami, Terue Hatakenaka, Daisuke Kurogochi, Takuma Fukuzawa, Tetsuhiko Mimura, Shinji Sasao, Hirotaka Haro, Yoshiharu Kawaguchi, Yukihiro Matsuyama and Jun Takahashi

Medicina 2025, 61(5), 909; https://doi.org/10.3390/medicina61050909 (registering DOI) - 17 May 2025

Abstract

Background and Objectives: This retrospective cohort study compared selective thoracic fusion (STF) and non-STF for adolescent idiopathic scoliosis (AIS) Lenke 1B/1C curves. Although STF is considered an attractive option for patients with a compensatory lumbar curve, direct clinical comparisons between STF and [...] Read more.

Background and Objectives: This retrospective cohort study compared selective thoracic fusion (STF) and non-STF for adolescent idiopathic scoliosis (AIS) Lenke 1B/1C curves. Although STF is considered an attractive option for patients with a compensatory lumbar curve, direct clinical comparisons between STF and non-STF remain limited. Materials and Methods: AIS patients (≥2 years follow-up) undergoing posterior spinal fusion were divided into STF (57 cases) and non-STF (21 cases) groups. The correction rates of their main thoracic (MT) and thoracolumbar/lumbar (TL/L) curves, coronal balance, and SRS-22r scores were statistically compared. Results: Two years after the operation, while MT curve correction and coronal balance showed no significant differences, TL/L curve correction was significantly higher in the non-STF group. In contrast, the STF group had a significantly higher SRS-22r function score, with comparable results for self-image and satisfaction. Conclusions: Both STF and non-STF present distinct characteristics that should be considered to optimize surgical decision-making. Full article

(This article belongs to the Section Orthopedics)

35 pages, 1085 KiB

Open AccessReview

Multimodal Prehabilitation in Major Abdominal Surgery—Rationale, Modalities, Results and Limitations

by George Andrei Popescu, Dana Galieta Minca, Nader Mugurel Jafal, Cristian Valentin Toma, Sorin Tiberiu Alexandrescu, Radu Virgil Costea and Catalin Vasilescu

Medicina 2025, 61(5), 908; https://doi.org/10.3390/medicina61050908 (registering DOI) - 17 May 2025

Abstract

Recent evidence revealed that an adequate preoperative physiological reserve is crucial to overcome surgical stress response. Consequently, a new concept, called prehabilitation, emerged, aiming to improve the preoperative functional reserve of patients who will undergo major abdominal surgery. During the interval between diagnosis [...] Read more.

Recent evidence revealed that an adequate preoperative physiological reserve is crucial to overcome surgical stress response. Consequently, a new concept, called prehabilitation, emerged, aiming to improve the preoperative functional reserve of patients who will undergo major abdominal surgery. During the interval between diagnosis and surgery, a multimodal approach consisting of physical exercise and nutritional and psychological support could be employed to enhance physiologic reserve. Physical activity interventions aim to improve aerobic capacity, muscle strength and endurance. Nutritional support addressing malnutrition and sarcopenia also contributes to the achievement of the above-mentioned goals, particularly in patients undergoing cancer-related procedures. Psychological interventions targeting anxiety, depression and self-efficacy, as well as risk behavior modification (e.g., smoking cessation) seem to enhance recovery. However, there is a lack of standardization regarding these interventions, and the evidence about the impact of this multidisciplinary approach on the postoperative outcomes is still contradictory. This narrative review focuses on the physiological basis of surgical stress response and on the efficacy of prehabilitation, reflected mainly in the length of hospitalization and rates of postoperative complications. Multidisciplinary collaboration between surgeons, nutritionists, psychologists and physiotherapists was identified as the key to the success of prehabilitation programs. Synergizing prehabilitation and ERAS protocols significantly improves short-term surgical outcomes. Recent well-designed, randomized clinical trials revealed that this approach not only enhanced functional reserve, but also decreased the rates of postoperative complications and enhanced patient’s overall quality of life, emphasizing the importance of its implementation in routine, elective, surgical care. Full article

(This article belongs to the Section Surgery)

12 pages, 672 KiB

Open AccessArticle

Longitudinal Observational Study on Quality of Life in Patients with Chronic Wounds Using DLQI and EQ-5D

by David Palomar-Albert, Jorge Zamora-Ortiz, Federico Palomar-Llatas, Marta Escudero-Martínez, Alba Naranjo-Cuellar and Maria Isabel Pastor-Orduña

Medicina 2025, 61(5), 907; https://doi.org/10.3390/medicina61050907 (registering DOI) - 17 May 2025

Abstract

Background and Objectives: Chronic wounds severely impair patients’ quality of life (QoL), impacting physical, emotional, and functional well-being. Understanding the multidimensional effects of treatment is key to implementing effective, patient-centered care strategies. This study aimed to assess changes in QoL among patients [...] Read more.

Background and Objectives: Chronic wounds severely impair patients’ quality of life (QoL), impacting physical, emotional, and functional well-being. Understanding the multidimensional effects of treatment is key to implementing effective, patient-centered care strategies. This study aimed to assess changes in QoL among patients with chronic wounds using the Dermatology Life Quality Index (DLQI) and EuroQol-5D (EQ-5D), comparing outcomes across treatment modalities. Materials and Methods: A longitudinal observational study was conducted between 2019 and 2024 across three hospitals in the Valencian Community. A total of 278 patients with venous lower-limb ulcers of more than six weeks’ duration were included. Quality-of-life assessments were performed at baseline, one-month follow-up, and discharge. Treatments included alginate, foam, moist wound healing (MWH), compression therapy, and negative-pressure wound therapy (NPWT). Statistical analysis involved Friedman’s test and repeated-measures ANOVA. Results: Significant improvements were observed in overall QoL across most treatment modalities. EQ-5D scores progressively increased, while DLQI scores decreased. Pain, embarrassment, and limitations in daily life (e.g., shopping and social activities) showed marked reductions. MWH and foam demonstrated the most favorable impact on QoL, while NPWT showed more modest improvements, possibly due to patient complexity. Notably, the variable “sexuality” remained unchanged (mean = 0.00), possibly due to underreporting or communication barriers. Conclusions: Chronic wound treatments significantly improve patients’ quality of life, particularly in terms of pain and social functioning. The use of combined tools (DLQI and EQ-5D) allows for a more comprehensive understanding of these outcomes. These findings highlight the importance of tailoring wound care to individual needs and addressing psychosocial domains, including sexuality. Community nursing, nutritional support, and long-term follow-up should be incorporated into care plans to optimize results, especially in older adults. Full article

(This article belongs to the Topic Impacts of Air Quality on Environment and Human Health)

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10 pages, 2658 KiB

Open AccessArticle

Retinal Hemorrhages and Long-Term Ocular Outcomes in Neonatal Hypoxic-Ischemic Encephalopathy

by Emrah Utku Kabataş, Seda Aydoğan, Ahmet Alp Bilgiç, Nurdan Dinlen Fettah, Naciye Kabataş, Dilek Dilli and Ayşegül Zenciroğlu

Medicina 2025, 61(5), 906; https://doi.org/10.3390/medicina61050906 (registering DOI) - 16 May 2025

Abstract

Background and Objective: This study aims to investigate the clinical significance and risk factors of retinal hemorrhages (RH) and white-centered retinal hemorrhages (Roth spots, RS) in neonates with hypoxic-ischemic encephalopathy (HIE), as well as their long-term ophthalmologic outcomes. Materials and Methods: Neonates diagnosed [...] Read more.

Background and Objective: This study aims to investigate the clinical significance and risk factors of retinal hemorrhages (RH) and white-centered retinal hemorrhages (Roth spots, RS) in neonates with hypoxic-ischemic encephalopathy (HIE), as well as their long-term ophthalmologic outcomes. Materials and Methods: Neonates diagnosed with HIE were classified into three stages according to the Sarnat classification. A comprehensive ophthalmologic assessment was performed within the first three days of life and at two years of age. Retinal hemorrhages were staged based on the Egge classification, and the presence of RS was also documented. The clinical characteristics and risk factors associated with RH and RS were systematically recorded. Results: Retinal hemorrhages were identified in 178 eyes (42.3%), and RS were observed in 180 eyes (42.8%). The prevalence of both RH and RS was significantly higher in neonates with Stage 2 and Stage 3 HIE (p < 0.001). The resolution time for both RH and RS was significantly prolonged in neonates with Stage 3 HIE compared to those with lower grades (p < 0.001). Furthermore, the frequency of grade 3 RH increased with advancing HIE stages (p < 0.001). Logistic regression analysis revealed that Stage 2 HIE (OR: 5.41, 95% CI: 1.19–24.54, p = 0.03) and Stage 3 HIE (OR: 27.17, 95% CI: 5.38–137.25, p < 0.001) were significantly associated with RS. Similarly, Stage 2 HIE (OR: 4.54, 95% CI: 1.00–20.68, p = 0.05) and Stage 3 HIE (OR: 40.88, 95% CI: 7.75–215.68, p < 0.001) were significantly associated with RH. At the age of two, strabismus was identified in 34 (18.4%) patients, while refractive errors were detected in 68 (37.4%) patients. Conclusions: The prevalence of RH and RS increases in correlation with the severity of HIE. While these hemorrhages generally resolve spontaneously, the risk of refractive errors and strabismus remains elevated. Full article

(This article belongs to the Section Pediatrics)

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18 pages, 5392 KiB

Open AccessSystematic Review

Autogenous Periosteal Graft Along with Open Flap Debridement Versus Open Flap Debridement Alone for the Treatment of Grade II Furcation Defect in Chronic Periodontitis Patients: A Systematic Review and Meta-Analysis

by Swapna A. Mahale, Prasad Dhadse, Sumedha Thosar, Vedant Bhandari, Akhil Patil, Sadatullah Syed, Ranjeet Ajit Bapat, Tanay Chaubal, Sumaiya Zabin Eusufzai and Shahabe Saquib Abullais

Medicina 2025, 61(5), 905; https://doi.org/10.3390/medicina61050905 - 16 May 2025

Abstract

Background and Objectives: Periodontal regeneration involves techniques intended at restoring the lost supporting tissue around a periodontally weakened tooth. These regenerative methods frequently utilize periosteal grafts to stimulate the evolvement of vital adjacent tissues. This paper intended to evaluate the use of [...] Read more.

Background and Objectives: Periodontal regeneration involves techniques intended at restoring the lost supporting tissue around a periodontally weakened tooth. These regenerative methods frequently utilize periosteal grafts to stimulate the evolvement of vital adjacent tissues. This paper intended to evaluate the use of autogenous periosteal grafts in treating grade II furcation defects (Glickman Classification 1953) in patients with chronic periodontitis. Materials and Methods: The databases MEDLINE (via PubMed), Cochrane, EBSCO, and Google Scholar were searched for papers published in English from January 1991 till December 2022. Three individuals examined the reclaimed articles according to the inclusion norms. Randomized controlled trials (RCTs) assessing the efficacy of autogenous periosteal grafts for treating Grade II furcation defects in chronic periodontitis patients were involved. Only four related studies were identified for data extraction, involving 80 patients aged 18 to 52 years. Outcome variables measured included horizontal bone loss (HD), vertical bone loss (VD), pocket depth (PD), clinical attachment level (CAL), bone height (BH), gingival recession (GR), plaque index (PI), and gingival index (GI). Data were examined using RevMan 5.4.1 software. Mean differences and 95% confidence intervals were employed to estimate effect sizes. Results: Both groups showed similar results for reductions in PI, GI, and BOP. However, The periosteal graft also yielded better outcomes for CAL gain, BH, and GR. The meta-analysis showed a significant overall effect of Periosteal Barrier Membrane (PBM) on horizontal and vertical bony change levels, but subgroup differences between unilateral and bilateral applications were not statistically significant due to high heterogeneity. Although the bilateral subgroup demonstrated significant benefits of PBM treatment, the overall findings across the clinical attachment level group remain inconclusive. Conclusion: Current evidence suggests that while PBM may benefit bilateral mandibular sites, and autogenous periosteal grafts offer no added advantage over OFD alone in Grade II furcation defects, the overall findings remain inconclusive. Full article

(This article belongs to the Special Issue Current and Future Trends in Dentistry and Oral Health)

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13 pages, 568 KiB

Open AccessArticle

Impact of Institutional Monthly Volume of Transcatheter Edge-to-Edge Repair Procedures for Significant Mitral Regurgitation: Evidence from the GIOTTO-VAT Study

by Nicola Corcione, Paolo Ferraro, Filippo Finizio, Michele Cimmino, Michele Albanese, Alberto Morello, Giuseppe Biondi-Zoccai, Paolo Denti, Antonio Popolo Rubbio, Francesco Bedogni, Antonio L. Bartorelli, Annalisa Mongiardo, Salvatore Giordano, Francesco De Felice, Marianna Adamo, Matteo Montorfano, Francesco Maisano, Giuseppe Tarantini, Francesco Giannini, Federico Ronco, Emmanuel Villa, Maurizio Ferrario, Luigi Fiocca, Fausto Castriota, Angelo Squeri, Martino Pepe, Corrado Tamburino and Arturo Giordano Show full author list Hide full author list

Medicina 2025, 61(5), 904; https://doi.org/10.3390/medicina61050904 - 16 May 2025

Abstract

Background and Objectives: Mitral valve transcatheter edge-to-edge repair (TEER) is a widely adopted therapeutic approach for managing significant mitral regurgitation (MR) in high-risk surgical candidates. While procedural safety and efficacy have been demonstrated, the impact of institutional expertise on outcomes remains unclear. [...] Read more.

Background and Objectives: Mitral valve transcatheter edge-to-edge repair (TEER) is a widely adopted therapeutic approach for managing significant mitral regurgitation (MR) in high-risk surgical candidates. While procedural safety and efficacy have been demonstrated, the impact of institutional expertise on outcomes remains unclear. We aimed at evaluating whether the institutional monthly volume of TEER influences short- and long-term clinical results. Materials and Methods: This analysis from the multicenter, prospective GIOTTO trial study evaluated the impact of institutional monthly volume on outcomes of TEER to remedy significant mitral regurgitation. Centers were stratified into tertiles based on monthly volumes (≤2.0 cases/month, 2.1–3.5 cases/month, >3.5 cases/month), and key clinical, echocardiographic, and procedural outcomes were analyzed. Statistical analysis was based on standard bivariate tests as well as unadjusted and multivariable adjusted Cox models. Results: A total of 2213 patients were included, stratified into tertiles based on institutional procedural volume: 645 (29.1%) patients in the first tertile, 947 (42.8%) patients in the second tertile, and 621 (28.1%) patients in the third tertile. Several baseline differences were found, with some features disfavoring less busy centers (e.g., functional class and surgical risk, both p < 0.05), and others suggesting a worse risk profile in those treated in busier institutions (e.g., frailty and history of prior mitral valve intervention, both p < 0.05). Procedural success rates were higher in busier centers (p < 0.001), and hospital stay was also shorter there (p < 0.001). Long-term follow-up (median 14 months) suggested worse outcomes in patients treated in less busy centers at unadjusted analysis (e.g., p = 0.018 for death, p = 0.015 for cardiac death, p = 0.014 for death or hospitalization for heart failure, p < 0.001 for cardiac death or hospitalization for heart failure), even if these associations proved no longer significant after multivariable adjustment, except for cardiac death or hospitalization for heart failure, which appeared significantly less common in the busiest centers (p < 0.05). Similar trends were observed when focusing on tertiles of overall center volume and when comparing for each center the first 50 cases with the following ones. Conclusions: High institutional monthly volume of TEER mitral valve repair appears to correlate with an improved procedural success rate and shorter hospitalizations. Similarly favorable results were found for long-term rates of cardiac death or hospitalization for heart failure. These findings inform on the importance of operator experience and center expertise in achieving state-of-the-art results with TEER, while confirming the usefulness of the proctoring approach when naïve centers begin a TEER program. Full article

(This article belongs to the Special Issue Transcatheter Therapies for Valvular Heart Disease)

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11 pages, 452 KiB

Open AccessArticle

Does Body Mass Index Impact Outcomes in Patients Undergoing Minimally Invasive Mitral Valve Surgery?

by Mariafrancesca Fiorentino, Elisa Mikus, Diego Sangiorgi, Alberto Tripodi, Simone Calvi, Elena Tenti, Antonino Costantino and Carlo Savini

Medicina 2025, 61(5), 903; https://doi.org/10.3390/medicina61050903 - 16 May 2025

Abstract

Background: This study examines the impact of Body Mass Index (BMI) on outcomes after mitral valve surgery via right minithoracotomy, an approach that may reduce wound complications in obese patients. Methods: Between January 2010 and December 2024, 1773 adult patients underwent minimally invasive [...] Read more.

Background: This study examines the impact of Body Mass Index (BMI) on outcomes after mitral valve surgery via right minithoracotomy, an approach that may reduce wound complications in obese patients. Methods: Between January 2010 and December 2024, 1773 adult patients underwent minimally invasive mitral valve surgery at our institution. They were categorized into three groups: normal weight (BMI < 25, n = 942), overweight (BMI 25–30, n = 661), and obese (BMI > 30, n = 170). Results: The three groups exhibited significant differences, with a higher prevalence of hypertension, dyslipidemia, and diabetes (p < 0.001) in overweight and obese patients. Further-more, they had a greater incidence of preoperative atrial fibrillation (p < 0.001), prior stroke (p = 0.023), chronic obstructive pulmonary disease (p = 0.002), and elevated preoperative creatinine levels (p < 0.001). and their euroscore II was significantly higher (p = 0.040). In-hospital mortality and major complications were similar across groups, except for drainage output in the first 24 h (p = 0.002) and ICU stay (p = 0.022), both resulting higher in the overweight and obese patients. We employed inverse probability of treatment weighting (IPTW) to create three well-matched groups. Following IPTW, postoperative outcomes remained comparable across groups. However, obese patients exhibited a higher incidence of postoperative atrial fibrillation (p = 0.037) and required pacemaker implantation more frequently (p < 0.001). Conclusions: Our findings suggest that obesity does not increase the risk of mortality or major adverse events after minimally in-vasive mitral valve surgery. This approach may offer a less invasive alternative for obese patients, potentially reducing the risk of wound complications associated with conventional surgery. Full article

(This article belongs to the Section Cardiology)

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12 pages, 720 KiB

Open AccessArticle

Ultrasonography of the Vagus Nerve for ALS Patients: Correlations with Clinical Data and Dysfunction of the Autonomic Nervous System

by Ovidijus Laucius, Justinas Drūteika, Tadas Vanagas, Renata Balnytė, Andrius Radžiūnas and Antanas Vaitkus

Medicina 2025, 61(5), 902; https://doi.org/10.3390/medicina61050902 - 16 May 2025

Abstract

Background and Objectives: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the degeneration of both upper and lower motor neurons, leading to the rapid decline of motor function. In recent years, dysfunction of the autonomic nervous system (ANS) has also [...] Read more.

Background and Objectives: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the degeneration of both upper and lower motor neurons, leading to the rapid decline of motor function. In recent years, dysfunction of the autonomic nervous system (ANS) has also been increasingly recognized as a contributing factor in various neurodegenerative diseases, including ALS. This study is the second publication from our ALS research cohort at Kaunas Clinics. Our previous work examined ultrasonographic changes in the phrenic nerve as a supplementary diagnostic approach for ALS. Materials and Methods: In the present study, we investigated ultrasonographic alterations of the vagus nerve within the same ALS cohort, aiming to explore correlations with ANS involvement. We performed high-resolution ultrasonography of the vagus nerve (VN), collected clinical data, conducted heart rate monitoring, and evaluated respiratory function. Results: We prospectively included 32 ALS patients meeting “Gold Coast” criteria and 64 age- and sex-matched control patients. The average onset of ALS was 57.97 ± 9.22 years, and the duration of the disease was15.41 ± 9.04 months. For ALS patients, we found significantly reduced vagus nerve cross-sectional area (CSA) at the level of the carotid artery bifurcation bilaterally compared to controls (right VN 1.86 ± 0.21 vs. 2.07 ± 0.18 mm², p < 0.001; left VN 1.69 ± 0.21 vs. 1.87 ± 0.21 mm², p < 0.001). Reduced values of the left VN positively correlated with the reduced values of FEV1% and sO₂. Conclusions: Our findings revealed a significant bilateral reduction in vagus nerve size in ALS patients compared to controls, suggesting that vagal atrophy may serve as a potential marker of autonomic dysfunction in ALS. Full article

(This article belongs to the Special Issue Neuromuscular Disorders: Diagnostical Approaches and Treatments)

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13 pages, 1256 KiB

Open AccessArticle

Serial Changes in Vitamin D Status in Patients During Severe Acute Respiratory Distress Syndrome and Extracorporeal Membrane Oxygenation

by Martina Hermann, Jelena Poslussny, Gernot Gerger, Helmuth Haslacher, Georg Mayrhofer, Verena Eva Tretter, Mathias Maleczek and Cem Ekmekcioglu

Medicina 2025, 61(5), 901; https://doi.org/10.3390/medicina61050901 - 16 May 2025

Abstract

Background and Objectives: Therapeutic interventions, such as extracorporeal membrane oxygenation (ECMO) therapy, in patients suffering from severe acute respiratory distress syndrome (ARDS) may reduce their vitamin D levels. Many observational studies have shown associations between poor outcomes and low vitamin D levels [...] Read more.

Background and Objectives: Therapeutic interventions, such as extracorporeal membrane oxygenation (ECMO) therapy, in patients suffering from severe acute respiratory distress syndrome (ARDS) may reduce their vitamin D levels. Many observational studies have shown associations between poor outcomes and low vitamin D levels in critically ill patients. This retrospective study primarily aimed to investigate the time-dependent changes in vitamin D levels and the correlation of vitamin D levels with disease severity and inflammatory markers in patients suffering from ARDS receiving ECMO therapy. Materials and Methods: This study used a longitudinal approach to assess the serial changes and the correlations of vitamin D levels (25-hydroxyvitamin D (25(OH)D) and 1,25-dihydroxyvitamin D (1,25(OH)2D)) with disease severity and inflammatory markers in 24 invasively mechanically ventilated (IMV) patients treated using ECMO over a period of 17 days. Most of the patients in this study were suffering from severe coronavirus disease 2019 (COVID-19) (n = 19; 79%). Serial blood samples collected during routine blood draws were retrospectively analyzed to assess the dynamics of their vitamin D levels over 17 days of ICU therapy. Results: Hypovitaminosis D (25(OH)D ≤ 50 nmol/L) was prevalent in 18 (75%) patients, while values of 25(OH)D lower than 30 nmol/L were measured in 5 patients (21%), indicating severe deficiency. Additionally, 1,25(OH)2D showed a significant decrease within the first 11 days of intensive care unit (ICU) treatment (these levels dropped by 28%; p = 0.03) and then remained at similar levels throughout the observational period; 25(OH)D levels remained largely unchanged during the observation period. We observed that 25(OH)D showed a significant negative correlation with C-reactive protein (CRP) (p = 0.04), and that 25(OH)D and 1,25(OH)2D levels did not show correlations with disease severity. Conclusions: Patients suffering from severe COVID-19 ARDS showed a significant decrease in their 1,25(OH)2D levels from day 0 to day 11 in the ICU. Therefore, routine vitamin D substitution and monitoring in critically ill patients, especially for patients suffering from ARDS treated with ECMO, should be carried out to prevent hypovitaminosis D. In addition, vitamin D may be associated with inflammation. Further studies are necessary to elucidate the mechanisms behind these retrospective observations. Full article

(This article belongs to the Special Issue Intensive Care and Life Support)

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14 pages, 1034 KiB

Open AccessArticle

Prevalence of Genetic Variants Associated with Atrial Fibrillation Risk in the Asymptomatic Young Adult Population

by Manoranjani Murugan, Sambandam Ravikumar, Irisappan Ganesh, Yogesh Vetriselvan, Arunagiri Priyadharshini and Vishnu Bhat Ballambattu

Medicina 2025, 61(5), 900; https://doi.org/10.3390/medicina61050900 - 15 May 2025

Abstract

Background and Objectives: Atrial fibrillation (AF) is the most common cardiac arrhythmia globally, leading to a high risk of stroke and heart failure. Genetic factors are known to play an essential role in AF risk. However, studies on genetic predisposition in asymptomatic [...] Read more.

Background and Objectives: Atrial fibrillation (AF) is the most common cardiac arrhythmia globally, leading to a high risk of stroke and heart failure. Genetic factors are known to play an essential role in AF risk. However, studies on genetic predisposition in asymptomatic young populations remain limited. This study aimed to investigate the prevalence of genetic variants in the PITX2 (rs2200733, rs10033464, and rs13143308), TBX5 (rs883079), PRRX1 (rs3903239), ZFHX3 (rs2106261), and HAND2 (rs7698692) polymorphisms and to assess their correlation with susceptibility to AF in a young adult population in India. Materials and Methods: This cross-sectional study included 250 subjects aged 18–29. Detailed lifestyle and family histories were collected for each participant. Genetic variation was determined using a specific TaqMan SNP genotyping assay. Hardy–Weinberg equilibrium (HWE) analysis and chi-square tests were employed to assess genotype frequencies, and statistical associations with lifestyle factors (body mass index, alcohol consumption, and smoking) were evaluated using t-tests and descriptive statistics. Results: Minor allele frequencies were varied across the study population, with notable frequencies in rs2200733 T (16%), rs10033464 T (27%), rs13143308 T (32%), rs883079 T (46%), rs3903239 G (25%), rs2106261 T (26%), and rs7698692 G (14%). HWE analysis confirmed that all SNPs were in equilibrium (p > 0.05). Approximately 15% of individuals carried six or more risk alleles, indicating a significant genetic predisposition to AF despite the absence of clinical symptoms. Conclusions: This study provides new insights into the genetic predisposition to AF among young adults in India. The high prevalence of risk alleles in asymptomatic young adults highlights the necessity of early genetic screening for AF risk and the role of genetic counseling in preventing cardiac complications. Full article

(This article belongs to the Section Genetics and Molecular Medicine)

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11 pages, 564 KiB

Open AccessReview

Mpox Infection and Endocrine Health: Bridging the Knowledge Gap

by Christos Savvidis, Manfredi Rizzo and Ioannis Ilias

Medicina 2025, 61(5), 899; https://doi.org/10.3390/medicina61050899 - 15 May 2025

Abstract

Mpox (MPX), caused by the Monkeypox virus (MPXV), is a zoonotic orthopoxvirus infection with increasing global relevance due to sustained human-to-human transmission. While primarily known for cutaneous and systemic involvement, emerging evidence suggests that MPX may also disrupt endocrine function. This narrative review [...] Read more.

Mpox (MPX), caused by the Monkeypox virus (MPXV), is a zoonotic orthopoxvirus infection with increasing global relevance due to sustained human-to-human transmission. While primarily known for cutaneous and systemic involvement, emerging evidence suggests that MPX may also disrupt endocrine function. This narrative review aims to synthesize current clinical, experimental, and epidemiological findings on MPX-related endocrine complications. We explore the potential impact of MPXV on the thyroid, adrenal glands, and gonads, and discuss the underlying mechanisms, clinical manifestations, and implications for patient management. MPX has been implicated in viral-induced subacute thyroiditis, with cases exhibiting thyrotoxicosis followed by hypothyroidism, likely mediated by direct viral infiltration or immune dysregulation. Additionally, MPX may contribute to adrenal insufficiency through viral invasion, immune-mediated destruction, or hypothalamic–pituitary–adrenal (HPA) axis dysfunction, exacerbating metabolic and inflammatory complications. MPXV’s persistence in testicular tissue raises concerns about reproductive health, with potential implications for fertility, hormone production, and viral transmission. The virus may also modulate host steroid pathways through interactions with glucocorticoid, androgen, and estrogen receptors, influencing immune responses and disease severity. Given these findings, clinicians should maintain vigilance for endocrine dysfunction in MPX patients, particularly in immunocompromised individuals. The role of steroid therapy in MPX remains complex, requiring careful balancing of its anti-inflammatory benefits against potential risks of viral persistence and immune suppression. Further research is essential to clarify MPX’s endocrine impact and optimize management strategies. Full article

(This article belongs to the Section Endocrinology)

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12 pages, 639 KiB

Open AccessArticle

Elevated Leukocyte Glucose Index (LGI) Is Associated with Diabetic Ketoacidosis (DKA) Severity and Presence of Microvascular Complications

by Mircea Cătălin Coșarcă, Raluca Maria Tilinca, Nicolae Alexandru Lazăr, Suzana Vasilica Șincaru, Bogdan Corneliu Bandici, Cosmin Carașca, Ráduly Gergő, Adrian Vasile Mureșan and Mariana Cornelia Tilinca

Medicina 2025, 61(5), 898; https://doi.org/10.3390/medicina61050898 - 15 May 2025

Abstract

Background and Objectives: Diabetic ketoacidosis (DKA) represents the most prevalent hyperglycemic emergency and poses a significant life-threatening metabolic risk for individuals with diabetes. The present study examines the predictive role of the leukocyte glucose index (LGI) values at baseline in diagnosing the [...] Read more.

Background and Objectives: Diabetic ketoacidosis (DKA) represents the most prevalent hyperglycemic emergency and poses a significant life-threatening metabolic risk for individuals with diabetes. The present study examines the predictive role of the leukocyte glucose index (LGI) values at baseline in diagnosing the severity of DKA and their correlation with the presence of diabetes-related microvascular complications. Materials and Methods: A retrospective observational study was conducted involving a total of 94 patients who had previously confirmed diagnoses of either Type I or Type II diabetes mellitus and presented with ketoacidosis upon emergency admission to the Department of Diabetology, Nutrition, and Metabolic Disease. Demographic information, values of arterial systolic and diastolic pressure, known duration and type of diabetes, severity of ketoacidosis, routine laboratory results, and blood gas analyses were retrieved from the hospital’s electronic database. Results: Higher diastolic blood pressure (DBP) values were observed in both mild (p = 0.021) and severe DKA (p = 0.035) compared to moderate DKA. When examining laboratory data, elevated white blood cell (WBC) counts were observed in severe DKA when compared to mild DKA (p = 0.009), as well as increased neutrophil counts in both moderate (p = 0.038) and severe (p = 0.011) DKA relative to mild DKA. Furthermore, patients with severe DKA exhibited lower values of venous blood pH, partial pressure of carbon dioxide (pvCO₂), base excess (BE), and bicarbonate than the other groups (all p < 0.05), alongside higher levels of lactate, anion gap, and LGI (all p < 0.05). Regarding the parameters of arterial blood gas, we identified a negative correlation between LGI values and venous blood pH (r = −0.383, p < 0.001), serum bicarbonate (r = −0.352, p < 0.001), pCO₂ (r = −0.271, p = 0.009), and BE (r = −0.330, p < 0.001). At univariate analysis, elevated LGI values are associated with the severity of DKA (OR: 1.87, p = 0.016) and diabetes-related microvascular complications (OR: 2.16, p = 0.010). Conclusions: The positive correlation between LGI and DKA severity and between LGI and diabetes microvascular complications highlights the potential utility of LGI as a predictive marker, facilitating early risk stratification and clinical decision-making. Full article

(This article belongs to the Section Endocrinology)

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12 pages, 1115 KiB

Open AccessArticle

Breathless Strength: Ultrasonographic Insights into Expiratory Muscle Dysfunction in Spinal Cord Injury

by Burak Kutuk, Kadriye Ones and Yunus Emre Dogan

Medicina 2025, 61(5), 897; https://doi.org/10.3390/medicina61050897 - 15 May 2025

Abstract

Background and Objectives: This study aimed to evaluate the predictive value of ultrasonographic abdominal muscle thickness and thickening ratios for expiratory muscle strength in SCI patients. Materials and Methods: A case-controlled, cross-sectional study was conducted with 36 SCI patients and 30 age- and [...] Read more.

Background and Objectives: This study aimed to evaluate the predictive value of ultrasonographic abdominal muscle thickness and thickening ratios for expiratory muscle strength in SCI patients. Materials and Methods: A case-controlled, cross-sectional study was conducted with 36 SCI patients and 30 age- and sex-matched healthy controls. Ultrasonographic measurements of the rectus abdominis (RA), external oblique (EO), internal oblique (IO), and transversus abdominis (TrA) were performed at rest and during forced expiration. Maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP) were measured to assess respiratory muscle strength. Correlation and regression analyses were performed to determine the relationship between ultrasonography (USG) parameters and expiratory muscle function. Results: SCI patients exhibited significantly lower MIP (76.27 ± 29 cmH₂O vs. 91.63 ± 17.3 cmH₂O, p = 0.007) and MEP (64.52 ± 21.55 cmH₂O vs. 119.1 ± 26.48 cmH₂O, p < 0.001) compared to healthy individuals. Ultrasonographic measurements revealed a significant reduction in forced thickness and thickening ratios of EO, IO, and TrA muscles in SCI patients (p < 0.001). MEP was positively correlated with EO forced thickness (r = 0.333, p = 0.047), IO forced thickness (r = 0.501, p = 0.002), and TrA forced thickness (r = 0.530, p = 0.001). Multiple linear regression analysis identified TrA forced thickness as the strongest predictor of MEP (β = 0.49, p = 0.001). Conclusions: Ultrasonographic measurements of abdominal muscle thickness and thickening ratios provide valuable insights into expiratory muscle dysfunction in SCI patients. TrA forced thickness demonstrated the strongest association with MEP, suggesting its potential as a novel, non-invasive biomarker for expiratory muscle weakness. These results support the use of USG as a practical clinical tool for guiding respiratory assessment and rehabilitation strategies in patients with spinal cord injury. Full article

(This article belongs to the Section Neurology)

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7 pages, 1118 KiB

Open AccessArticle

Optimal Localization of the Foramen Ovale for Transseptal Puncture Using the Vertebral Body Units

by Dong Hoon Kang, Sung Eun Park, Jong Woo Kim, Seong Ho Moon, Ho Jeong Cha, Jong Hwa Ahn and Joung Hun Byun

Medicina 2025, 61(5), 896; https://doi.org/10.3390/medicina61050896 - 15 May 2025

Abstract

Background and Objectives: Although transesophageal or intracardiac echocardiography and radiofrequency needles are employed to guide transseptal puncture, their routine utilization is associated with substantial expense. No reports have analyzed the use of the foramen ovale position to effectively guide transseptal punctures on [...] Read more.

Background and Objectives: Although transesophageal or intracardiac echocardiography and radiofrequency needles are employed to guide transseptal puncture, their routine utilization is associated with substantial expense. No reports have analyzed the use of the foramen ovale position to effectively guide transseptal punctures on chest X-rays or computed tomography scout views, which are more cost-effective approaches to safely and effectively guide the procedure. We aimed to find the foramen ovale position on chest computed tomography scout views to effectively guide percutaneous transseptal punctures. Materials and Methods: The study population included 31 patients treated with extracorporeal membrane oxygenation (ECMO) for cardiogenic shock, 32 patients diagnosed with atrial fibrillation (AF) who underwent MDCT, and 197 patients who underwent MDCT for non-cardiac conditions. Vertebral body units, defined as the distance between two adjacent vertebral bodies (the sixth and seventh thoracic spines) inclusive of the intervertebral disk space, were used to express the distance from the carina to the foramen ovale on computed tomography scout views. Results: The mean vertebral body units, distance from the carina to the foramen ovale (carina–foramen ovale), and distance from the carina to the foramen ovale on chest computed tomography scout views (carina–foramen ovale vertebral body units⁻¹) were 2.3 ± 0.2 cm, 6.9 ± 0.9 cm, and 3.0 ± 0.3, respectively. Multivariate analysis showed significant correlations between the carina–foramen ovale vertebral body units⁻¹ and sex (β = 0.080; p = 0.028), body mass index (β = −0.020; p < 0.001), age (β = 0; p = 0.013), and the application of extracorporeal membrane oxygenation or the presence of atrial fibrillation (β = 0.130; p = 0.004). Conclusions: Although a three-dimensional approach was not employed, the foramen ovale position may serve as a radiologic guide in various clinical settings where transseptal punctures are required. This technique may be an effective aid in transseptal puncture procedures. Full article

(This article belongs to the Section Cardiology)

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15 pages, 911 KiB

Open AccessSystematic Review

Beyond Diagnosis: Exploring Residual Autonomy in Dementia Through a Systematic Review

by Anna Anselmo, Francesco Corallo, Maria Pagano, Davide Cardile, Angela Marra, Giuseppa Maresca, Rosaria De Luca, Antonella Alagna, Angelo Quartarone, Rocco Salvatore Calabrò and Irene Cappadona

Medicina 2025, 61(5), 895; https://doi.org/10.3390/medicina61050895 - 14 May 2025

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Abstract

Background and Objectives: The connection between cognitive decline and autonomy represents a complex and multifactorial area of research. Cognitive decline manifests as a progressive impairment of higher mental functions and is typical of neurodegenerative conditions such as dementia. Autonomy, on the other [...] Read more.

Background and Objectives: The connection between cognitive decline and autonomy represents a complex and multifactorial area of research. Cognitive decline manifests as a progressive impairment of higher mental functions and is typical of neurodegenerative conditions such as dementia. Autonomy, on the other hand, is defined as an individual’s ability to independently manage activities of daily living and make informed decisions. The objective of this study was to investigate whether certain daily living skills can persist despite the advancement of dementia, and what factors contribute to their preservation in maintaining autonomy. Materials and Methods: A literature review was conducted using the databases PubMed, Web of Science, Scopus, Cochrane Library, Embase, and PsycInfo. Out of an initial pool of 12,113 studies, only 19 met the inclusion criteria and were selected for analysis. Results: The findings indicate that, in non-institutionalized settings, some daily living abilities may remain preserved despite cognitive deterioration. In contrast, within institutionalized environments, a significant correlation emerged between cognitive decline and the progressive loss of personal autonomy. Conclusions: This study highlights the importance of assessing residual abilities in individuals with dementia. Recognizing and supporting these remaining skills can play a crucial role in enhancing quality of life, delaying institutionalization, and promoting autonomy even in the presence of advanced cognitive decline. Full article

(This article belongs to the Section Neurology)

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14 pages, 4013 KiB

Open AccessArticle

Platelet-Rich Plasma Provides Superior Clinical Outcomes Without Radiologic Differences in Lateral Epicondylitis: Randomized Controlled Trial

by Taha Kizilkurt, Ahmet Serhat Aydin, Taha Furkan Yagci, Ali Ersen, Celal Caner Ercan and Artür Salmaslioglu

Medicina 2025, 61(5), 894; https://doi.org/10.3390/medicina61050894 - 14 May 2025

Viewed by 70

Abstract

Background and Objectives: Lateral epicondylitis, commonly known as tennis elbow, is a prevalent condition characterized by pain and tenderness over the lateral epicondyle. Various treatment options, including corticosteroids, platelet-rich plasma (PRP), and saline injections, are utilized, yet their comparative efficacy remains unclear. Hypothesis: [...] Read more.

Background and Objectives: Lateral epicondylitis, commonly known as tennis elbow, is a prevalent condition characterized by pain and tenderness over the lateral epicondyle. Various treatment options, including corticosteroids, platelet-rich plasma (PRP), and saline injections, are utilized, yet their comparative efficacy remains unclear. Hypothesis: This study hypothesizes that PRP injections result in superior functional and clinical outcomes compared to corticosteroid and saline treatments, as assessed by clinical scoring systems and radiological findings. Materials and Methods: The study enrolled patients aged 18 years and older with pain and tenderness over the lateral epicondyle persisting for at least three months and no prior treatment. Patients with comorbidities affecting the upper extremity were excluded. Fifty-five elbows from 50 patients were randomized into three groups (glucocorticoid, PRP, and saline). Functional outcomes were assessed using the Visual Analog Scale (VAS), Patient-Rated Tennis Elbow Evaluation (PRTEE), and Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire. Radiological evaluations included vascularity and superb microvascular imaging (SMI) indices via ultrasonography before injection and three months post-injection. Results: Fourteen patients were lost to follow-up, leaving 36 patients (36 elbows, 16 males and 20 females; mean age 42.4 ± 6.15 years) for analysis. The glucocorticoid group included 13 elbows, PRP group 14 elbows, and saline group 14 elbows. Baseline functional and radiological scores were similar across groups. At three months, PRP and glucocorticoid groups showed no significant differences in VAS scores (p = 0.7), but PRP outperformed both of the other groups in DASH and PRTEE scores, with the saline group performing the worst (p < 0.001). PRP consistently achieved the best outcomes at both three and six months. Radiological assessments revealed no significant group differences in vascularity or SMI indices (p = 0.3 and p = 0.2, respectively). Conclusions: PRP treatment demonstrated superior functional outcomes in early and mid-term evaluations compared to glucocorticoid and saline. However, ultrasonographic measures of vascularity and SMI did not correlate with functional outcomes. Clinical Relevance: PRP offers a promising treatment option for lateral epicondylitis, with superior functional improvements over other commonly used injections. Radiological assessments of vascularity and SMI may not reliably predict clinical outcomes. Full article

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

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13 pages, 1102 KiB

Open AccessArticle

Impacts of an Oral Appliance on Snoring in Adults with Varying Degrees of Snoring Severity: A Preliminary Study

by Yu-Hsiang Cheng, Jui-Kun Chiang, Yen-Chang Lin, Hsueh-Hsin Kao and Yee-Hsin Kao

Medicina 2025, 61(5), 893; https://doi.org/10.3390/medicina61050893 - 14 May 2025

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Abstract

Background and Objectives: Oral appliances (OAs) are commonly used to manage sleep-disordered breathing conditions, including primary snoring, and offer an alternative treatment for individuals with obstructive sleep apnea (OSA) who cannot tolerate continuous positive airway pressure (CPAP) therapy. Our study analyzed the [...] Read more.

Background and Objectives: Oral appliances (OAs) are commonly used to manage sleep-disordered breathing conditions, including primary snoring, and offer an alternative treatment for individuals with obstructive sleep apnea (OSA) who cannot tolerate continuous positive airway pressure (CPAP) therapy. Our study analyzed the possible factors associated with higher snoring rates compared with those associated with lower snoring rates. Materials and Methods: A customized dental brace with a tongue compressor was the essential part of the Lin OA (LOA). The compressor is available in various lengths, ranging from 0.5 to 3.0 cm across different versions. The participants wore the LOA throughout the night while sleeping. Their snoring rates were recorded using the SnoreClock app on their cell phones. Results: The analysis included 36 participants, comprising 30 males and 6 females. The participants had a mean age of 44.91 ± 9.96 years, a mean BMI of 26.18 ± 3.50 kg/m², and an average recording duration of 398.27 ± 77.56 min per session. In total, 4052 sleep recordings were analyzed. The number of files for females was less than that for males (563 vs. 3489). In this study, individuals belonging to the highest one-third based on the baseline snoring rate (H group) experienced a significant reduction in snoring, approximately 84.8%, when using the LOA-3 cm device equipped with a 3 cm tongue compressor. The individuals who belonged to the lower two-thirds based on the baseline snoring rate were classified as the L group. Among male participants, snoring decreased by approximately 66.4%. Similarly, among female participants in the L group, snoring decreased by approximately 69.3% when using the LOA-3 cm. Conclusions: In this study, we observed a significant reduction in snoring for the two groups of participants wearing the LOA-3 cm, with the rate decrements ranging from 66.4% to 84.8%. This reduction was more pronounced in the H group than in the male participants in the L group. Further studies are needed to explore the reasons for these findings. Full article

(This article belongs to the Section Dentistry and Oral Health)

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7 pages, 1422 KiB

Open AccessArticle

Exploring the Potential of a P2X3 Receptor Antagonist: Gefapixant in the Management of Persistent Cough Associated with Interstitial Lung Disease

by Tomoyuki Takahashi, Atsushi Saito, Takafumi Yorozuya, Hirotaka Nishikiori, Koji Kuronuma and Hirofumi Chiba

Medicina 2025, 61(5), 892; https://doi.org/10.3390/medicina61050892 - 14 May 2025

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Abstract

Background: Interstitial lung disease (ILD) is characterized by pulmonary inflammation and fibrosis associated with persistent and refractory cough that significantly hinders quality of life. Conventional treatments for ILD-associated cough have shown limited efficacy, necessitating alternative therapeutic approaches. Gefapixant, a P2X3 receptor antagonist, can [...] Read more.

Background: Interstitial lung disease (ILD) is characterized by pulmonary inflammation and fibrosis associated with persistent and refractory cough that significantly hinders quality of life. Conventional treatments for ILD-associated cough have shown limited efficacy, necessitating alternative therapeutic approaches. Gefapixant, a P2X3 receptor antagonist, can potentially alleviate chronic cough by inhibiting the ATP-mediated activation of sensory C-fibers, but its efficacy in ILD-associated cough remains unclear. This study observed the effects of gefapixant on ILD-associated refractory chronic cough. Methods: This prospective study enrolled patients with ILD-associated refractory chronic cough who received gefapixant at Sapporo Medical University Hospital between July 2022 and November 2023. Cough frequency, Leicester Cough Questionnaire (LCQ) score, cough severity visual analog scale (Cough VAS), and taste VAS were evaluated at baseline and at 2, 4, and 8 weeks after gefapixant administration. Results: Six patients completed the study. Their ILD subtypes included idiopathic pulmonary fibrosis (IPF), nonspecific interstitial pneumonia (NSIP), and connective tissue disease-associated ILDs (CTD-ILDs). After 8 weeks, the cough frequency decreased from 88.5 to 44.3 episodes per 30 min, LCQ scores increased from 8.3 to 13.6, and cough VAS scores decreased from 75.8 to 40.2. However, statistical significance was not reached due to high interindividual variability, with gefapixant being effective in some and ineffective in others. The most common adverse event was taste disorder, leading to discontinuation in one patient, but symptoms tended to lessen over the course of treatment. Conclusions: Gefapixant appears to be effective in reducing refractory cough related to ILD, although these results were not statistically significant because its effectivity widely varied across individuals. Further investigation is needed to identify patient subgroups with the greatest potential for treatment responsiveness. Full article

(This article belongs to the Special Issue Diagnosis and Treatment of Interstitial Lung Disease)

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7 pages, 490 KiB

Open AccessArticle

Sex Differences in the In-Hospital Mortality of Patients with Acute Myocardial Infarction: A Cross-Sectional Study in 36 Hospitals Across Germany

by Karel Kostev, Nimran Kaur, Sabine Kluge, Marcel Konrad, Jamschid Sedighi and Mark Lüdde

Medicina 2025, 61(5), 891; https://doi.org/10.3390/medicina61050891 - 14 May 2025

Viewed by 321

Abstract

Background and Objectives: Acute myocardial infarction (AMI) is one of the leading causes of mortality worldwide and caused ~1.8 million deaths in the European Union from 2012 to 2020. This study aimed to analyze and quantify sex-based disparities, identifying both clinical and systemic [...] Read more.

Background and Objectives: Acute myocardial infarction (AMI) is one of the leading causes of mortality worldwide and caused ~1.8 million deaths in the European Union from 2012 to 2020. This study aimed to analyze and quantify sex-based disparities, identifying both clinical and systemic contributors to in-hospital mortality differences between male and female patients. Materials and Methods: This multicenter cross-sectional study from 36 hospitals across Germany included all hospitalized patients aged ≥18 years with admissions between January 2019 and December 2023 and a primary diagnosis of AMI. The primary outcome of the study was the prevalence of in-hospital mortality as a function of sex. Multivariable logistic regression analyses were conducted to assess the associations between female sex as compared with male sex and in-hospital mortality. Results: The present study included 9142 male and 4128 female patients with AMI. Women were significantly older than men (74.4 years versus 67.7 years). The proportion of non-ST elevation (NSTE-MI)-MI was higher in women than in men (70.7% versus 66.7%). Overall, in-hospital mortality was higher in women than in men (8.5% versus 7.1%). In a multivariable regression model, female sex was not significantly associated with in-hospital mortality (OR: 0.89; 95% CI: 0.77–1.04) irrespective of the MI type. Conclusions: There were no significant sex-based differences observed in the in-hospital mortality among patients suffering from AMI in Germany. Full article

(This article belongs to the Special Issue Advances in Acute Myocardial Infarction)

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16 pages, 1847 KiB

Open AccessSystematic Review

Lower Urinary Tract Symptoms in Uterine Myoma: A Systematic Review and Meta-Analysis

by Lek-Hong Tan and Li-Hsien Tsai

Medicina 2025, 61(5), 890; https://doi.org/10.3390/medicina61050890 - 14 May 2025

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Abstract

Background and Objectives: Lower urinary tract symptoms (LUTSs) are prevalent among patients with uterine myoma (UM); however, these health issues have not been systematically evaluated. To address this research gap, this systematic review and meta-analysis synthesizes existing findings on the prevalence estimates [...] Read more.

Background and Objectives: Lower urinary tract symptoms (LUTSs) are prevalent among patients with uterine myoma (UM); however, these health issues have not been systematically evaluated. To address this research gap, this systematic review and meta-analysis synthesizes existing findings on the prevalence estimates and odds ratios for LUTSs in patients with UM. Materials and Methods: A systematic literature search using PubMed and Embase was conducted for articles published between 1 January 2000 and 24 September 2023. The search and review processes followed the PRISMA and MOOSE guidelines. This study was registered in PROSPERO (CRD42023474156). Data on the prevalence and odds ratios of LUTSs—including storage symptoms (frequency, urgency, nocturia), voiding symptoms, and urinary incontinence (UI) subtypes such as stress incontinence (SUI), urgency urinary incontinence (UUI), and mixed urinary incontinence (MUI)—were extracted. Pooled prevalence estimates and odds ratios were calculated using random-effects meta-analysis. Subgroup analyses and univariate meta-regression were conducted to examine associations with age, BMI, parity, WHO region, and risk of bias. The impact of UM size was assessed using standardized mean differences. Results: Of the 572 articles screened, 20 met the inclusion criteria. The overall pooled prevalence of LUTSs in UM patients was 49% (95% CI, 26–72%), with substantial heterogeneity across studies (I² = 99.8%). The pooled prevalence for urinary frequency, urgency, nocturia, voiding dysfunction, and overall UI, SUI, UUI, and MUI ranged from 15% to 54%. SUI and UUI were significantly associated with UM (OR = 2.0, 95% CI: 1.2–3.3; OR = 1.5, 95% CI: 1.1–2.0, respectively). Hysterectomy was not associated with an improvement in overactive bladder (OAB) symptoms (OR = 1.9, 95% CI: 0.6–5.7). A larger UM size was not linked to worsening LUTS. Fourteen studies (70%) had some concerns about the risk of bias, while six studies (30%) had a low risk of bias. Egger’s test showed no significant publication bias (p = 0.19). Conclusions: Approximately half of patients with UM experience LUTSs or UI. The findings emphasize the need to consider urinary symptoms in UM management. Further research is warranted to reduce heterogeneity and explore treatment-specific outcomes. Full article

(This article belongs to the Section Urology & Nephrology)

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12 pages, 299 KiB

Open AccessArticle

Prospective Evaluation of Clinical and Laboratory Profiles of Febrile and Afebrile Immunosuppressed Patients Presenting to the Emergency Department

by Tuğrul Topal, Esra Pamukçu, Muhammet Gökhan Turtay, Gülşen Yalçın, Harun Kürşat Şahingil and Mehmet Sezer

Medicina 2025, 61(5), 889; https://doi.org/10.3390/medicina61050889 - 14 May 2025

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Abstract

Background and Objectives: Immunosuppressed patients are at higher risk of delayed diagnosis and atypical presentations in the emergency department (ED), requiring prompt management. This study compares febrile (≥37.5 °C) and afebrile (<37.5 °C) immunosuppressed patients admitted to the ED regarding clinical and [...] Read more.

Background and Objectives: Immunosuppressed patients are at higher risk of delayed diagnosis and atypical presentations in the emergency department (ED), requiring prompt management. This study compares febrile (≥37.5 °C) and afebrile (<37.5 °C) immunosuppressed patients admitted to the ED regarding clinical and laboratory parameters, including blood and urine tests, vital signs, final diagnoses, outcomes, and mortality. Materials and Methods: Eighty immunosuppressed patients aged 18–82 were prospectively evaluated from May 2019 to May 2020. Data on blood and urine tests, final diagnoses, outcomes, and mortality were recorded using a standardized form. Results: Among the 80 patients, 44 (55%) were female and 36 (45%) were male, with a mean age of 58.5 ± 14.72 years. The febrile patients showed higher admission levels of lactate dehydrogenase (LDH), interleukin-6 (IL-6), procalcitonin (PCT), and longer hospital stays than the afebrile patients. Mortality correlated with low albumin, oxygen saturation, platelet count, and total protein levels and elevated PCT and lipase levels. ICU admissions were linked to low albumin, total protein, and systolic blood pressure levels and elevated LDH, blood urea nitrogen, neutrophil count, and PCT levels. The fever status (febrile versus afebrile) had no significant relationship with the immunosuppression type, complaints, diagnoses, outcomes, or mortality. Final diagnoses varied by immunosuppression type: cholangitis in liver transplant recipients, respiratory infections in cancer patients, and urinary tract infections in kidney transplant recipients. Conclusions: Immunosuppressed patients can present with severe conditions, even without fever. Based on our findings, our study emphasizes that measuring PCT in immunosuppressed patients presenting to the emergency department with various complaints but without fever may help reduce the risk of delayed diagnosis. Full article

(This article belongs to the Special Issue Advances and Challenges in Prehospital Emergency Care)

16 pages, 1454 KiB

Open AccessArticle

Meta-Analysis of 16S rRNA Sequencing Reveals Altered Fecal but Not Vaginal Microbial Composition and Function in Women with Endometriosis

by Astrid Torraco, Sara Di Nicolantonio, Martina Cardisciani, Eleonora Ortu, Davide Pietropaoli, Serena Altamura and Rita Del Pinto

Medicina 2025, 61(5), 888; https://doi.org/10.3390/medicina61050888 - 14 May 2025

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Abstract

Background and Objectives: Dysbiosis of the oral–gut axis is related to several extraintestinal inflammatory diseases, including endometriosis. This study aims to assess the microbial landscape and pathogenic potential of distinct biological niches during endometriosis. Materials and Methods: A microbiome meta-analysis was [...] Read more.

Background and Objectives: Dysbiosis of the oral–gut axis is related to several extraintestinal inflammatory diseases, including endometriosis. This study aims to assess the microbial landscape and pathogenic potential of distinct biological niches during endometriosis. Materials and Methods: A microbiome meta-analysis was conducted on 182 metagenomic sequences (79 of fecal and 103 of vaginal origin) from women with and without endometriosis. Fecal and vaginal microbial diversity, differential abundance, and functional analysis based on disease status were assessed. Random forest, gradient boosting, and generalized linear modeling were used to predict endometriosis based on differentially enriched bacteria. Results: Only intestinal microbes displayed distinctive taxonomic and functional characteristics in women with endometriosis compared to control women. Taxonomic differences were quantified using the microbial endometriosis index (MEI), which effectively distinguished between individuals with and without the disease. The observed functional enrichment pointed to proinflammatory pathways previously related to endometriosis development. Conclusions: Dysbiosis in the oral–gut microbial community appears to play a prevalent role in endometriosis. Our findings pave the ground for future studies exploring the potential mechanistic involvement of the oral–gut axis in disease pathogenesis. Full article

(This article belongs to the Section Obstetrics and Gynecology)

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Graphical abstract

13 pages, 303 KiB

Open AccessArticle

Prevalence of Sleep Apnea in Patients with Syncope of Unclear Cause: SINCOSAS Study

by María-José Muñoz-Martínez, Alberto Fernández-Villar, Manuel Casal-Guisande, Enrique García-Campo, Dolores Corbacho-Abelaira, Ana Souto-Alonso and Bernardo Sopeña

Medicina 2025, 61(5), 887; https://doi.org/10.3390/medicina61050887 - 13 May 2025

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Abstract

Background and Objectives: The association between syncope and sleep apnea (SA) has been scarcely investigated. Dysfunction of the autonomic nervous system (ANS) may represent a shared pathophysiological mechanism. This study aimed to determine the prevalence of SA in patients with syncope of unclear [...] Read more.

Background and Objectives: The association between syncope and sleep apnea (SA) has been scarcely investigated. Dysfunction of the autonomic nervous system (ANS) may represent a shared pathophysiological mechanism. This study aimed to determine the prevalence of SA in patients with syncope of unclear cause (SUC), identify potential associated factors, and evaluate nocturnal heart rate variability (HRV) as a marker of ANS function. Materials and Methods: A prospective cohort study was conducted in adult patients diagnosed with SUC. Nocturnal cardiorespiratory polygraphy was performed to detect the presence of SA. A range of variables potentially associated with SA was collected. Both SA diagnosis and HRV parameters were assessed using the Embletta^® MPR polygraph system. Results: A total of 156 patients were enrolled (57% male), with a mean age of 64 years and a mean body mass index of 27.5 kg/m² (range: 24.8–32.2). Hypertension was present in 46% of the cohort. The overall prevalence of SA was 78.2% (95% CI: 71.7–84.4%), with 28.7% classified as severe. Age (OR = 1.04; 95% CI: 1.01–1.07) and BMI (OR = 1.17; 95% CI: 1.06–1.28) were independent predictors of SA. Mean RR interval was significantly lower in patients with SA compared to those without (942 ms vs. 995 ms; p = 0.04). No significant differences in HRV parameters were observed between the two groups. Conclusions: This study found a high prevalence (nearly 78%) of SA among adult patients with SUC, particularly in individuals over 50 years of age and those who were overweight. However, this association could not be predicted based on clinical variables alone. No significant differences in nocturnal HRV were detected between patients with SUC with and without SA. Full article

(This article belongs to the Section Pulmonology)

11 pages, 516 KiB

Open AccessArticle

Occurrence and Impact of Intraoperative Anastomotic Leakage in Retzius-Sparing Robot-Assisted Radical Prostatectomy

by Jian-Kai Chen, Yu-Jun Chang, Chi-Bo Lin, Yueh Pan and Pai-Fu Wang

Medicina 2025, 61(5), 886; https://doi.org/10.3390/medicina61050886 - 13 May 2025

Viewed by 161

Abstract

Background and Objectives: The limited literature on the significance and risk factors of intraoperative anastomotic leakage (IAL) following Retzius-sparing robot-assisted radical prostatectomy (Rs-RARP) highlights the need for further investigation. This study aimed to assess the incidence of IAL, identify its associated risk [...] Read more.

Background and Objectives: The limited literature on the significance and risk factors of intraoperative anastomotic leakage (IAL) following Retzius-sparing robot-assisted radical prostatectomy (Rs-RARP) highlights the need for further investigation. This study aimed to assess the incidence of IAL, identify its associated risk factors, and evaluate its clinical implications. Materials and Methods: Patients with prostate adenocarcinoma who underwent Rs-RARP performed by a single surgeon between February 2015 and August 2023 were included in this study. Positive IAL was defined as the presence of anastomotic leakage identified through a water injection test performed immediately after vesicourethral anastomosis (VUA). Postoperative urinary continence was defined as the use of no pads or only a safety pad. Patients were categorized into two groups: those with positive IAL and those without. Immediate repair was performed in cases of positive IAL, and cystography was conducted approximately 10–14 days postoperatively. Chi-square test, Fisher’s exact test, Mann–Whitney U test, as well as univariable and multivariable logistic regression analyses, were used to evaluate the risk factors associated with IAL. Additionally, we analyzed the continence rate and the time to achieve continence following surgery. Results: A total of 230 patients underwent Rs-RARP for prostate adenocarcinoma performed by a single surgeon at our center during the aforementioned period. A water injection test was performed in all patients immediately after the VUA. IAL was observed in 32 patients (14%) during the water injection test. Postoperative cystography revealed very mild contrast medium leakage in only two patients (0.9%), with no impact on clinical recovery. No major IAL cases were identified on postoperative cystography. Patients with positive IAL required a significantly longer time to achieve continence compared to those without IAL (2.13 vs. 0.46 months, p = 0.008). Univariable analysis showed that a locally advanced T stage (>T2), longer console time, and absence of nerve-sparing were significantly associated with positive IAL. In multivariable analysis, a longer console time and a locally advanced T stage remained significant predictors of IAL. Conclusions: IAL detected by the water injection test was associated with the development of postoperative urinary incontinence and delayed recovery of continence. A tumor stage greater than T2 and longer console time were significant predictors of IAL. Further prospective randomized studies with larger sample sizes are required to validate our findings. Full article

(This article belongs to the Section Urology & Nephrology)

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15 pages, 801 KiB

Open AccessArticle

Does MYO and ALA Supplementation Improve PCOS Outcomes?

by Selma Firat, Koray Elter, Sinan Ateş and Mehmet Fisunoğlu

Medicina 2025, 61(5), 885; https://doi.org/10.3390/medicina61050885 - 13 May 2025

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Abstract

Background and Objectives: This study aimed to evaluate the impact of myoinositol (MYO) and α-lipoic acid (ALA) supplementation on hormonal and metabolic markers in women diagnosed with polycystic ovary syndrome (PCOS). Materials and Methods: A retrospective case–control study was conducted with 58 [...] Read more.

Background and Objectives: This study aimed to evaluate the impact of myoinositol (MYO) and α-lipoic acid (ALA) supplementation on hormonal and metabolic markers in women diagnosed with polycystic ovary syndrome (PCOS). Materials and Methods: A retrospective case–control study was conducted with 58 women aged between 18–40 years who met the Rotterdam criteria for PCOS. The case group (n = 29) received MYO (2000 mg/day) and ALA (400 mg/day) supplements, while the control group (n = 29) did not receive any treatment. Data on the subjects’ anthropometric measures, glycemic indices, sex hormones, and lipid profiles were collected. Results: The results demonstrated that, following three months of MYO + ALA supplementation, the case group exhibited steady body weight (p = 0.484) and BMI (p = 0.405), whereas the control group demonstrated a significant increase in both (p = 0.029; p = 0.026, respectively). A stratified analysis based on BMI, waist circumference, and waist-to-height ratio revealed that HbA1c (%) was significantly lower in the “normal” subgroup compared to the “risky” subgroup within the case group (p < 0.05). Although the mean HbA1c, insulin, and HOMA-IR values were comparable between the two groups, the LH/FSH ratio significantly increased in the control group (p = 0.010). No significant differences were observed in the lipid profiles between the two groups; however, LDL levels decreased significantly in the case group (p = 0.024). Across all classifications, the “normal” subgroup consistently exhibited lower HbA1c and TG/HDL ratios than the “risky” subgroup. Conclusions: Adding MYO + ALA supplementation to standard PCOS treatment may offer metabolic benefits, particularly in maintaining glycemic control, body weight, and BMI. Supplementation also reduces LDL. Full article

(This article belongs to the Section Obstetrics and Gynecology)

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13 pages, 939 KiB

Open AccessArticle

The Efficacy and Tolerability of Colistin Versus Non-Colistin Antimicrobial Regimens Among Hospitalized COVID-19 Patients with Multidrug-Resistant Bacterial Superinfection: An Observational Multicenter Study

by Alzahraa M. Fahmy, Marwa O. Elgendy, Alaa Aboud Mohamed, Mohamed S. Imam, Abdullah Nasser Alharbi, Muhammad Husayn Al-Anezi, Omar Mana Aldhafeeri, Saif Mamdouh Aldhafeeri, Jawaher A. Ajeebi, Marwa Kamal and Hasnaa Osama

Medicina 2025, 61(5), 884; https://doi.org/10.3390/medicina61050884 - 13 May 2025

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Abstract

Background and Objectives: Bacterial infections amongst COVID-19 patients could be associated with worsened outcomes. This study aimed to investigate the efficacy of colistin antibiotic in multidrug-resistant (MDR) Gram-negative (-ve) secondary bacterial infections among hospitalized COVID-19 patients. Materials and Methods: In this [...] Read more.

Background and Objectives: Bacterial infections amongst COVID-19 patients could be associated with worsened outcomes. This study aimed to investigate the efficacy of colistin antibiotic in multidrug-resistant (MDR) Gram-negative (-ve) secondary bacterial infections among hospitalized COVID-19 patients. Materials and Methods: In this multicentered retrospective study, we analyzed data from the medical records of 116 patients diagnosed with COVID-19 infection and secondary Gram-negative MDR bacterial respiratory infections. Results: We compared those assigned to colistin versus non-colistin-based antimicrobial therapy. The two arms of the study were similar in baseline clinical features, demographics, and Gram-negative pathogens’ distribution. Acinetobacter baumannii (51.7%) was the major pathogen, followed by Klebsiella pneumonia (26.7%). Patients who received colistin-based antimicrobial regimen showed a non-significant difference compared to non-colistin antimicrobial (NCA) therapy (p > 0.05) in the main outcomes. Nephrotoxicity was significantly higher in the IV colistin group, compared to the control (34.1% and 15.3%, p = 0.018). There were substantial differences observed in the levels of serum creatinine and urea among the study arms (p = 0.029 and <0.001, respectively). Conclusions: The combination of colistin with other antimicrobial agents showed comparable results to that of NCA regimens in hospitalized COVID-19 patients with superinfections with multidrug-resistant bacterial isolates; however, there was a notably elevated incidence of nephrotoxicity with colistin antimicrobial therapy. Further randomized controlled trials are needed to assess the therapeutic benefits and tolerability of colistin antimicrobial therapy. Full article

(This article belongs to the Special Issue Advances in Infectious Diseases and Clinical Microbiology during and after the COVID-19 Pandemic: 2nd Edition)

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12 pages, 1043 KiB

Open AccessArticle

Analyzing Key Predictors of Postoperative Delirium Following Coronary Artery Bypass Grafting and Aortic Valve Replacement: A Machine Learning Perspective

by Marija Stošić, Velimir Perić, Dragan Milić, Milan Lazarević, Jelena Živadinović, Vladimir Stojiljković, Aleksandar Kamenov, Aleksandar Nikolić and Mlađan Golubović

Medicina 2025, 61(5), 883; https://doi.org/10.3390/medicina61050883 - 13 May 2025

Viewed by 198

Abstract

Background and Objectives: Postoperative delirium (POD) is a frequent and severe complication following cardiac surgery, particularly in high-risk patients undergoing coronary artery bypass grafting (CABG) and aortic valve replacement (AVR). Despite extensive research, predicting POD remains challenging due to the multifactorial and [...] Read more.

Background and Objectives: Postoperative delirium (POD) is a frequent and severe complication following cardiac surgery, particularly in high-risk patients undergoing coronary artery bypass grafting (CABG) and aortic valve replacement (AVR). Despite extensive research, predicting POD remains challenging due to the multifactorial and often non-linear nature of its risk factors. This study aimed to improve POD prediction using an interpretable machine learning approach and to explore the combined effects of clinical, biochemical, and perioperative variables. Materials and Methods: This study included 131 patients who underwent CABG or AVR. POD occurrence was assessed using standard diagnostic criteria. Clinical, biochemical, and perioperative variables were collected, including patient age, sedation type, and mechanical ventilation status. Machine learning analysis was performed using an XGBoost classifier, with model interpretation achieved through SHapley Additive exPlanations (SHAP). Univariate logistic regression was applied to identify significant predictors, while SHAP analysis revealed variable interactions. Results: POD occurred in 34.3% of patients (n = 45). Patients who developed POD were significantly older (67.7 ± 6.5 vs. 64.5 ± 8.7 years, p = 0.020). Sedation with mechanical ventilation and the type of sedative used were strongly associated with POD (both p < 0.001). Sedation during mechanical ventilation showed the strongest association (OR = 2520.0; 95% CI: 80.9–78,506.7; p < 0.00001). XGBoost classifier achieved excellent performance (AUC = 0.998, accuracy = 97.6%, F1 score = 0.976). SHAP analysis identified sedation, mechanical ventilation, and their interactions with fibrinogen, troponin I, leukocyte parameters, and lung infection as key predictors. Conclusions: This study demonstrates that an interpretable machine learning approach can enhance POD prediction, providing insights into the combined impact of multiple clinical, biochemical, and perioperative factors. Integration of such models into perioperative workflows may enable early identification of high-risk patients and support individualized preventive strategies. Full article

(This article belongs to the Section Intensive Care/ Anesthesiology)

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14 pages, 774 KiB

Open AccessSystematic Review

Association of VDR Polymorphisms (FokI, ApaI, and TaqI) with Susceptibility to Lumbar Disc Herniation: Systematic Review, Meta-Analysis, Trial Sequential Analysis, and Transcriptional Prediction

by Alireza Sheikhi, Mohsen Nabiuni, Soha Zia, Masoud Sadeghi, Annette B. Brühl and Serge Brand

Medicina 2025, 61(5), 882; https://doi.org/10.3390/medicina61050882 - 12 May 2025

Viewed by 132

Abstract

Background and Objectives: Lumbar disc herniation (LDH) is influenced by genetic, mechanical, and behavioral factors, with genetic predisposition playing a key role. Vitamin D receptor (VDR) polymorphisms have been implicated in LDH susceptibility, warranting further investigation. This study aimed to [...] Read more.

Background and Objectives: Lumbar disc herniation (LDH) is influenced by genetic, mechanical, and behavioral factors, with genetic predisposition playing a key role. Vitamin D receptor (VDR) polymorphisms have been implicated in LDH susceptibility, warranting further investigation. This study aimed to assess the association between VDR polymorphisms (FokI, ApaI, and TaqI) and LDH risk through a systematic review, meta-analysis, and trial sequential analysis (TSA). Materials and Methods: A systematic literature search was conducted across PubMed, Web of Science, Scopus, Cochrane Library, and CNKI, up until 30 January 2025. A meta-analysis was performed using Review Manager 5.3, with odds ratios (ORs) and 95% confidence intervals (CIs), and heterogeneity assessed via the I² statistic. The publication bias and TSA were evaluated using CMA 3.0 and TSA software to ensure the reliability of the results. The FATHMM-XF method was applied to predict the functional effect of coding and non-coding polymorphisms. Results: From 79 records, 10 studies were entered into the meta-analysis. The meta-analysis results showed no significant association of FokI and ApaI polymorphisms with LDH, while TaqI exhibited a protective effect, particularly in Asian populations and larger studies. The subgroup analysis revealed significant ethnicity-specific associations for TaqI, with stronger effects observed in Asian compared to Caucasian individuals. The trial sequential analysis indicated that additional studies are required to confirm the findings for FokI, while the recessive model of TaqI polymorphism showed a near-sufficient sample size for reliable conclusions. Conclusions: The TaqI polymorphism, particularly the tt genotype, appears to have a protective effect against LDH, especially in Asian populations and larger studies. However, further large-scale, multi-ethnic research is needed to confirm these findings and explore underlying biological mechanisms. Full article

(This article belongs to the Special Issue Neuromuscular Disorders: Diagnostical Approaches and Treatments)

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Medicina, Volume 61, Issue 5 (May 2025) – 141 articles

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