Medicina

18 pages, 476 KiB

Open AccessArticle

Clinical and Genetic Characteristics of Patients with Essential Tremor Who Develop Parkinson’s Disease

by Gulseren Buyukserbetci, Hilmi Bolat, Ummu Serpil Sari, Gizem Turan, Ayla Solmaz Avcikurt and Figen Esmeli

Medicina 2025, 61(7), 1184; https://doi.org/10.3390/medicina61071184 (registering DOI) - 29 Jun 2025

Abstract

Background and Objectives: Essential tremor (ET) is a common neurological disorder, typically presenting as bilateral, rhythmic, and symmetric kinetic or postural tremors. In contrast, Parkinson’s disease (PD) is a progressive neurodegenerative disorder, characterized by resting tremor, rigidity, bradykinesia, and postural instability. Although [...] Read more.

Background and Objectives: Essential tremor (ET) is a common neurological disorder, typically presenting as bilateral, rhythmic, and symmetric kinetic or postural tremors. In contrast, Parkinson’s disease (PD) is a progressive neurodegenerative disorder, characterized by resting tremor, rigidity, bradykinesia, and postural instability. Although both disorders involve tremor, ET and PD differ in clinical presentation and pathophysiology: ET generally involves action tremor and has a strong familial component, while PD more commonly presents with resting tremor and a weaker family history. A subset of ET patients may develop Parkinsonian features over time, although the relationship between ET and subsequent PD remains unclear. Genetic studies have identified only a few pathogenic variants in ET, suggesting it develops as a result of multifactorial genetic and environmental influences rather than simple Mendelian inheritance. ET is also recognized as a risk factor for developing PD, although the underlying mechanisms remain poorly understood. This study aimed to clarify potential genetic overlaps and distinctions in patients diagnosed with both ET and PD. Materials and Methods: We retrospectively analyzed 40 patients with a family history of ET or PD who were initially diagnosed with ET and later developed PD. Genetic screening and clinical assessments were conducted to investigate associated variants and clinical features. Results: Among these 40 patients, 17 different mutations were detected in 16 individuals. Three pathogenic or likely pathogenic variants were identified. The clinical characteristics and treatment responses of these patients were reviewed in relation to their genetic findings. Notably, none of the identified variants had previously been reported in association with PD following ET. Conclusions: A comprehensive clinical and genetic evaluation of ET patients who develop PD may offer insights into the underlying pathophysiology and inform future therapeutic strategies. Our findings support the need for further studies to explore the genetic landscape of patients with overlapping ET and PD features. Full article

(This article belongs to the Section Neurology)

9 pages, 398 KiB

Open AccessArticle

The Manchester Procedure as a Uterine-Preserving Alternative for Uterine Prolapse Due to Cervical Elongation: A Short- and Mid-Term Clinical Analysis

by Claudia Liger Guerra, Lorena Sabonet Morente, Juan Manuel Hidalgo Fernandez, Manuel Navarro Romero, Cristina Espada Gonzalez and Jesus S. Jimenez-Lopez

Medicina 2025, 61(7), 1183; https://doi.org/10.3390/medicina61071183 (registering DOI) - 29 Jun 2025

Abstract

Background and Objectives: Pelvic organ prolapse (POP) is a prevalent condition that negatively impacts women’s quality of life. Uterine-preserving procedures are increasingly demanded by patients with uterine prolapse, particularly when associated with true cervical elongation. The Manchester procedure, historically used for uterine preservation, [...] Read more.

Background and Objectives: Pelvic organ prolapse (POP) is a prevalent condition that negatively impacts women’s quality of life. Uterine-preserving procedures are increasingly demanded by patients with uterine prolapse, particularly when associated with true cervical elongation. The Manchester procedure, historically used for uterine preservation, has regained interest due to its effectiveness and low morbidity. This study aims to evaluate the anatomical and functional outcomes of the Manchester procedure in women with uterine prolapse due to cervical elongation, assessing patient satisfaction and associated clinical factors. Materials and Methods: We conducted a retrospective, observational, single-center study at the Regional University Hospital of Málaga, Spain, including patients undergoing the Manchester procedure between January 2017 and December 2022. Inclusion criteria required a diagnosis of uterine prolapse due to clinically confirmed true cervical elongation. Surgical details, complications, and postoperative outcomes were recorded. Patient satisfaction was assessed using a Likert scale during follow-up visits. Results: A total of 38 patients were included, with a mean age of 48.7 years. All presented with symptomatic uterine prolapse and elongated cervix (>5 cm). The anatomical success rate was 97%, with only one case of symptomatic recurrence. The most common early postoperative complication was urinary tract infection (10.5%). The average follow-up duration was 18.6 months. A high level of satisfaction was recorded: 94.8% of patients were either “very satisfied” (73.7%) or “satisfied” (21.1%), and only 5.3% reported dissatisfaction. Multicompartmental repair (anterior and/or posterior colporrhaphy) improved satisfaction outcomes. Conclusions: The Manchester procedure is a safe, effective uterine-sparing surgical option for patients with cervical elongation-related uterine prolapse. It demonstrates a high anatomical success rate and low morbidity, with excellent patient satisfaction. Comprehensive preoperative assessment and addressing modifiable risk factors such as obesity and smoking are key to optimizing results. Further prospective studies are needed to assess long-term durability and quality-of-life outcomes. Full article

(This article belongs to the Special Issue Outcomes After Surgical Treatment of Pelvic Organ Prolapse)

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15 pages, 1225 KiB

Open AccessArticle

Pneumothorax and Pneumomediastinum in SARS-CoV-2 Infection

by Cătălina Aldea, Irina Mihaela Abdulan, Bogdan Mihnea Ciuntu, Robert Negru and Cătălina Mihaela Luca

Medicina 2025, 61(7), 1182; https://doi.org/10.3390/medicina61071182 (registering DOI) - 29 Jun 2025

Abstract

Background and Objectives: Infection with SARS-CoV-2, the etiologic agent of Coronavirus 2019, spread rapidly globally after the first case was reported in Wuhan, China. Multiple respiratory complications, including pneumothorax and pneumomediastinum, have been observed. This study presents an analysis of 100 patients diagnosed [...] Read more.

Background and Objectives: Infection with SARS-CoV-2, the etiologic agent of Coronavirus 2019, spread rapidly globally after the first case was reported in Wuhan, China. Multiple respiratory complications, including pneumothorax and pneumomediastinum, have been observed. This study presents an analysis of 100 patients diagnosed with these conditions in the context of SARS-CoV-2 infection. Materials and Methods: This study was conducted between March 2020 and February 2021 and included patients from two hospital units designated for the management of patients with SARS-CoV-2 infection. Demographic data, laboratory investigation results, imaging assessments, medical-surgical management strategies, and survival data were recorded. Results: The study included 100 patients with confirmed SARS-CoV-2 infection (mechanically ventilated and non-ventilated). Of these, 57 patients presented with pneumothorax, 26 of whom also had associated pneumomediastinum and 43 of whom were diagnosed with pneumomediastinum alone. There was a higher incidence of pneumothorax among male patients. Also, 22 patients had concomitant subcutaneous emphysema. Regarding therapeutic management, 36 pleural drains were performed. Bilateral pneumothorax was identified in five patients. Conclusions: The presence of pneumothorax was correlated with a decreased survival rate among patients diagnosed with COVID-19. Also, performing pleural drainage in patients with pneumothorax and COVID-19 pneumonia did not significantly influence the prognosis of the underlying disease. Full article

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

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13 pages, 470 KiB

Open AccessArticle

The Relationship Between Chest Wall Muscle Thickness, Pulmonary Function, and Prognostic Markers in Idiopathic Pulmonary Fibrosis

by Pelin Pınar Deniz, Sevgül Köse, İsmail Hanta, Pelin Duru Çetinkaya, Merisa Sinem Arslan and Erolcan Datlı

Medicina 2025, 61(7), 1181; https://doi.org/10.3390/medicina61071181 (registering DOI) - 29 Jun 2025

Abstract

Background and Objectives: Idiopathic pulmonary fibrosis (IPF) is a specific form of chronic, progressive interstitial lung disease with an unknown etiology. It is often accompanied by skeletal muscle mass loss. Chest wall muscles play a crucial role in respiratory movements and form [...] Read more.

Background and Objectives: Idiopathic pulmonary fibrosis (IPF) is a specific form of chronic, progressive interstitial lung disease with an unknown etiology. It is often accompanied by skeletal muscle mass loss. Chest wall muscles play a crucial role in respiratory movements and form part of the skeletal muscles. The aim of this study is to evaluate the relationship between chest wall muscle thickness and pulmonary function test (PFT) results, as well as other prognostic markers, in patients with IPF. Materials and Methods: A retrospective analysis was conducted on 108 patients diagnosed with IPF and 53 control subjects. Chest wall muscle thickness was measured on thoracic computed tomography (CT) images at specific anatomical levels. PFT parameters, the Gender-Age-Physiology (GAP) index, number of acute exacerbations, and mortality data were evaluated in relation to muscle thickness. Results: IPF patients had significantly reduced thickness in the bilateral external scapular muscles at both the aortic and pulmonary trunk levels compared to controls. Bilateral pectoral muscle thickness at the aortic level was positively correlated with forced vital capacity (FVC) and negatively correlated with the number of exacerbations. Internal scapular muscle thickness at the aortic level showed a significant positive correlation with diffusion capacity of the lung for carbon monoxide (DLCO) and a negative correlation with both GAP scores and exacerbation frequency. External scapular muscle thickness at the pulmonary trunk level was positively associated with PFT parameters and inversely correlated with the GAP index, exacerbations, and mortality. Conclusions: In patients with IPF, the bilateral external scapular muscle thickness at the aortic and pulmonary trunk levels was significantly reduced compared to controls. Significant associations were found between some chest wall muscle thicknesses and the GAP index, pulmonary function, acute exacerbations, and mortality, underscoring the prognostic value of baseline muscle measurements. Measurement of chest wall muscle thickness using routine thoracic CT scans may offer additional prognostic value in IPF. Incorporating this parameter into clinical evaluation may help identify patients who could benefit from supportive interventions, such as nutritional therapy or pulmonary rehabilitation. Full article

(This article belongs to the Section Pulmonology)

31 pages, 1395 KiB

Open AccessReview

Salivary Interleukins as Non-Invasive Biomarkers for Psoriasis: Advances and Challenges in Diagnosis and Monitoring

by Anna Sora, Tony Hangan, Sergiu Ioachim Chirila, Leonard Gurgas, Mihaela Botnarciuc, Lavinia Carmen Daba, Ana Maria Cretu, Ionut Burlacu, Mihaela Zamfirescu, Adina Petcu, Adrian Cosmin Rosca, Ramona Mihaela Stoicescu and Lucian Cristian Petcu

Medicina 2025, 61(7), 1180; https://doi.org/10.3390/medicina61071180 (registering DOI) - 29 Jun 2025

Abstract

Background and Objectives: Psoriasis is a chronic immune-mediated inflammatory disease requiring reliable diagnostic and monitoring tools. Salivary interleukins have emerged as promising non-invasive biomarkers, reflecting systemic inflammation and offering practical advantages such as ease of collection and improved patient compliance. Materials and [...] Read more.

Background and Objectives: Psoriasis is a chronic immune-mediated inflammatory disease requiring reliable diagnostic and monitoring tools. Salivary interleukins have emerged as promising non-invasive biomarkers, reflecting systemic inflammation and offering practical advantages such as ease of collection and improved patient compliance. Materials and Methods: This review synthesizes the current evidence on key salivary cytokines—IL-1β, IL-6, TNF-α, and IL-17—in relation to psoriasis pathogenesis, diagnosis, and treatment monitoring. It also compares saliva to blood-based diagnostics, emphasizing benefits like cost-effectiveness and suitability for repeated sampling. Methodological challenges, including heterogeneity in collection protocols and limited longitudinal data, are critically examined. Results: Advances in biologic therapies have deepened the understanding of psoriasis immunopathogenesis, highlighting interleukins as central biomarkers. Recent findings identify IL-37 and IL-38 as novel regulatory cytokines with anti-inflammatory roles. While elevated serum TNF-α levels in psoriatic patients are well documented, some inconsistencies persist. Notably, saliva has proven to be a viable alternative diagnostic fluid, supporting large-scale screening and routine clinical monitoring. Conclusions: Salivary interleukins—particularly IL-1β, IL-6, TNF-α, and IL-17—represent valuable, non-invasive biomarkers for early detection, disease severity assessment, and therapeutic response monitoring in psoriasis. Standardizing saliva-based methods and conducting large-scale studies are essential next steps to support their integration into personalized clinical practice. Full article

(This article belongs to the Special Issue Chronic Inflammatory Skin Diseases: Where We Are and Where We Are Going: 2nd Edition)

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20 pages, 343 KiB

Open AccessReview

Retinitis Pigmentosa: From Genetic Insights to Innovative Therapeutic Approaches—A Literature Review

by Ricardo A. Murati Calderón, Andres Emanuelli and Natalio Izquierdo

Medicina 2025, 61(7), 1179; https://doi.org/10.3390/medicina61071179 (registering DOI) - 29 Jun 2025

Abstract

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration and vision loss. While current management is largely supportive—relying on visual aids, orientation training, and nutritional supplementation—these interventions offer only symptomatic relief and do not halt disease [...] Read more.

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration and vision loss. While current management is largely supportive—relying on visual aids, orientation training, and nutritional supplementation—these interventions offer only symptomatic relief and do not halt disease progression. Advances in molecular genetics have led to the development of targeted treatments, including gene replacement therapy, RNA-based therapies, and CRISPR/Cas9 gene editing, offering promising strategies for disease modification. The approval of voretigene neparvovec for RPE65-associated RP marked a milestone in gene therapy, while ongoing trials targeting mutations in RPGR, USH2A, and CEP290 are expanding therapeutic options. Optogenetic therapy and stem cell transplantation represent additional strategies, particularly for patients with advanced disease. Challenges persist in delivery efficiency, immune responses, and treating large or dominant-negative mutations. Non-viral vectors, nanoparticle systems, and artificial intelligence-guided diagnostics are being explored to address these limitations and support personalized care. This review summarizes the current and emerging therapeutic landscape for RP, highlighting the shift toward precision medicine and the need for continued innovation to overcome genetic and phenotypic variability. Full article

(This article belongs to the Special Issue Ophthalmology: New Diagnostic and Treatment Approaches)

16 pages, 468 KiB

Open AccessArticle

Factors Associated with Suicide Attempts in Adults with ADHD: Findings from a Clinical Study

by Camilla Perotti, Gianluca Rosso, Camilla Garrone, Valerio Ricci, Giuseppe Maina and Gabriele Di Salvo

Medicina 2025, 61(7), 1178; https://doi.org/10.3390/medicina61071178 (registering DOI) - 29 Jun 2025

Abstract

Background and Objectives: Suicidality in adults with Attention-Deficit/Hyperactivity Disorder (ADHD) is an emerging clinical concern, yet its mechanisms and risk factors are not fully understood. Specifically, little is known about the characteristics of suicide attempts (SAs), including the use of violent/nonviolent methods. This [...] Read more.

Background and Objectives: Suicidality in adults with Attention-Deficit/Hyperactivity Disorder (ADHD) is an emerging clinical concern, yet its mechanisms and risk factors are not fully understood. Specifically, little is known about the characteristics of suicide attempts (SAs), including the use of violent/nonviolent methods. This study aimed to investigate the prevalence and methods of SA in adults with ADHD and to identify associated sociodemographic and clinical factors. Materials and Methods: The sample included 211 adult outpatients with ADHD. Patients were grouped based on the presence/absence of a lifetime SA. Among attempters, those who used a violent method (e.g., hanging, shooting, or jumping from a height) were compared with those who used a nonviolent method (e.g., poisoning). Statistical analyses included χ² tests, Kruskal–Wallis tests, and logistic regression. Results: In total, 9.9% (n = 21; 95% CI: 4.5–10.4) of participants reported a lifetime SA, with 23.8% (n = 5; 95% CI: 4.8–41.9) using violent methods. SA was significantly associated with comorbid personality disorders (p = 0.006, OR: 6.613, 95% CI: 0.537–5.812) and a higher number of hospitalizations (p = 0.008, OR: 1.980, 95% CI: 0.296–2.675). Nonviolent methods were linked to low self-esteem (p = 0.008). No significant associations with ADHD features or other psychiatric comorbidities emerged. Conclusions: Adults with ADHD are at risk for SA, showing patterns similar to other psychiatric populations. Unlike suicidal ideation, which has been directly linked to ADHD in previous studies, the transition to an SA appeared to be associated with comorbid personality disorders. Full article

(This article belongs to the Section Psychiatry)

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9 pages, 641 KiB

Open AccessArticle

Long-Term Outcomes of Pediatric Cerebral Arteriovenous Malformations: A Ten-Year Single-Center Retrospective Study

by Mei-Cheng Hsiao, Yuang-Seng Tsuei, Hung-Chuan Pan, Ming-Hsi Sun, Wen-Hsien Chen, Hung-Chieh Chen, Chiung-Chyi Shen, Chi-Ruei Li and Yu-Cheng Chou

Medicina 2025, 61(7), 1177; https://doi.org/10.3390/medicina61071177 (registering DOI) - 29 Jun 2025

Abstract

Background and Objectives: Pediatric cerebral arteriovenous malformations (AVMs) are associated with significant morbidity and mortality. The aim of this study was to assess the long-term outcomes of surgical excision and stereotactic radiosurgery (SRS) of cerebral AVMs in pediatric patients. Materials and Methods [...] Read more.

Background and Objectives: Pediatric cerebral arteriovenous malformations (AVMs) are associated with significant morbidity and mortality. The aim of this study was to assess the long-term outcomes of surgical excision and stereotactic radiosurgery (SRS) of cerebral AVMs in pediatric patients. Materials and Methods: A single-center retrospective analysis was conducted using data obtained from a single medical center between January 2012 and July 2022. The Modified Rankin Scale (mRS) at admission and discharge and the Spetzler–Martin (SM) scores were analyzed. Results: Among 45 patients (mean age 11.8 years), 19 patients (42.2%) received surgical resection, with good outcomes (mRS 0–2) in 16 patients and complete obliteration in all patients. In total, 26 patients (57.8%) were managed with SRS. After 36.3 months on average, complete obliteration in 19 of 26 patients (69.2%) was confirmed. Among the 7 SRS patients without complete obliteration, 6 had residual cerebral AVMs at the last follow-up, and 1 had recurrence. All patients receiving SRS had favorable outcomes (mRS 0–1) and no apparent radiosurgery-related complications. Conclusions: In our study, the surgical resection or SRS was selected based on individual patient conditions, and the overall outcomes were satisfactory. Both surgical resection and SRS proved to be effective treatment options. Microsurgical resection demonstrated a high rate of obliteration and remains a favorable therapeutic choice with acceptable risks for pediatric AVMs. Full article

(This article belongs to the Section Neurology)

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12 pages, 449 KiB

Open AccessFeature PaperReview

Combined Cataract and Vitrectomy Surgery in Pediatric Patients

by Armando J. Ruiz-Justiz, Vanessa Cruz-Villegas, Stephen G. Schwartz, Victor M. Villegas and Timothy G. Murray

Medicina 2025, 61(7), 1176; https://doi.org/10.3390/medicina61071176 (registering DOI) - 29 Jun 2025

Abstract

Purpose: To review the current literature on the combined use of cataract surgery (or lensectomy) and vitrectomy in pediatric patients, with a focus on clinical indications, surgical techniques, outcomes, and complications across various pediatric ocular pathologies. Methods: A narrative review of published studies [...] Read more.

Purpose: To review the current literature on the combined use of cataract surgery (or lensectomy) and vitrectomy in pediatric patients, with a focus on clinical indications, surgical techniques, outcomes, and complications across various pediatric ocular pathologies. Methods: A narrative review of published studies addressing the use of combined lensectomy and vitrectomy (LV) in pediatric patients was conducted. Conditions discussed include congenital cataracts, ectopia lentis, retinopathy of prematurity (ROP), retinal detachment (RD), and persistent fetal vasculature (PFV). Key surgical considerations, visual and anatomical outcomes, and postoperative complications were examined. Results: The literature search yielded a total of 160 articles, of which 43 met the inclusion criteria and were included in this review. Although lens-sparing vitrectomy (LSV) is preferred in many pediatric cases to preserve accommodation and reduce complications, combined LV is often necessary in advanced or complex diseases. Studies have shown that combined LV can achieve favorable anatomical outcomes, but functional visual recovery remains variable and is affected by factors such as patient age, baseline ocular anatomy, and disease severity. Postoperative complications such as glaucoma, visual axis opacification (VAO), and intraocular lens (IOL) dislocation are more frequent with combined procedures and require long-term follow-up and rehabilitation. Conclusions: Combined cataract surgery (or lensectomy) and vitrectomy may represent a valuable strategy in the management of complex pediatric ocular conditions, particularly when individualized to the clinical context. Tailored surgical approaches are essential to optimize anatomic and functional outcomes. Further prospective studies and harmonized multicenter registries are needed to develop evidence-based principles that can guide individualized surgical decision-making in this unique patient population. Full article

(This article belongs to the Special Issue Ophthalmology: New Diagnostic and Treatment Approaches)

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21 pages, 624 KiB

Open AccessReview

Integrated Hospital–Territory Organizational Models and the Role of Family and Community Nurses in the Management of Chronic Conditions: A Scoping Review

by Gianluca Azzellino, Patrizia Vagnarelli, Mauro Passamonti, Luca Mengoli, Lia Ginaldi and Massimo De Martinis

Medicina 2025, 61(7), 1175; https://doi.org/10.3390/medicina61071175 (registering DOI) - 28 Jun 2025

Abstract

Background and Objectives: One of the challenges of modern healthcare systems, in terms of economic and organizational sustainability and the impact on patients’ quality of life, is the progressive increase in chronicity and care complexity. In this scenario, hospital–community integration models represent [...] Read more.

Background and Objectives: One of the challenges of modern healthcare systems, in terms of economic and organizational sustainability and the impact on patients’ quality of life, is the progressive increase in chronicity and care complexity. In this scenario, hospital–community integration models represent possible strategies to ensure the continuity of care, reduce readmission rates, and improve clinical outcomes. This study aims to map integrated care models for patients with chronic diseases, with active involvement of the family and community nurse, describing their functions and associated clinical, organizational, and economic outcomes, as well as barriers and facilitators to their implementation. Materials and Methods: The review was conducted using the JBI methodology and the PRISMA-ScR protocol and identified 26 studies with a publication range from 2000 to 2025. Results: The emerging results highlight the use of integrated and personalized organizational models in the post-discharge phases, with a leading role for the family and community nurse in the assessment, planning, and coordination of various steps. Conclusions: The interventions are associated with an increase in patient and caregiver satisfaction, a reduction in outcomes such as the rehospitalization rate, and greater continuity of care. Full article

(This article belongs to the Special Issue Advances in Public Health and Healthcare Management for Chronic Care)

13 pages, 418 KiB

Open AccessArticle

Association of Helicobacter pylori with Serum HIF-1α, HIF-2α, and Human Transmembrane Prolyl 4-Hydroxylase Activity in Patients with Chronic Gastritis

by Sefa Ergün, Fadime Kutluk, Basar Can Turgut, Seyma Dumur, Uğurcan Sayılı, Dilek Duzgun Ergun and Hafize Uzun

Medicina 2025, 61(7), 1174; https://doi.org/10.3390/medicina61071174 (registering DOI) - 28 Jun 2025

Abstract

Background and Objectives: Chronic mucosal infection with Helicobacter pylori (H. pylori) plays a key role in the development of gastroduodenal disorders such as chronic gastritis, peptic ulcers, gastric lymphoma, and gastric cancer by triggering local immune responses and inducing hypoxic [...] Read more.

Background and Objectives: Chronic mucosal infection with Helicobacter pylori (H. pylori) plays a key role in the development of gastroduodenal disorders such as chronic gastritis, peptic ulcers, gastric lymphoma, and gastric cancer by triggering local immune responses and inducing hypoxic and inflammatory conditions in the gastric mucosa. This study aims to evaluate the potential diagnostic value of hypoxia-inducible factors HIF-1α and HIF-2α, along with transmembrane prolyl 4-hydroxylase (P4H-TM), as biomarkers in H. pylori-positive patients. Additionally, the study investigates the association between these markers and alterations in lipid profiles, as well as their involvement in the molecular mechanisms underlying gastric conditions like gastritis, particularly in the context of H. pylori infection. Materials and Methods: This study was conducted at Istanbul Avcılar Murat Kölük State Hospital’s General Surgery Outpatient Clinic. A total of 60 participants were included: 40 patients diagnosed with chronic gastritis (20 H. pylori-positive and 20 H. pylori-negative) and 20 healthy controls confirmed negative by 13C-urea breath test. Blood samples were collected for ELISA analysis of HIF-1α, HIF-2α, and P4H-TM levels. Additionally, lipid profiles were measured and compared among the groups. Results: No significant differences were found among the groups in terms of demographic factors such as age, sex, or body mass index (BMI). However, significant variations were observed in the levels of HIF-1α, HIF-2α, and P4H-TM across all groups (p < 0.001 for each marker). These markers were substantially elevated in the H. pylori-positive gastritis group compared to both the H. pylori-negative and healthy control groups. Receiver Operating Characteristic (ROC) curve analysis revealed that all evaluated markers exhibited strong diagnostic accuracy in differentiating H. pylori-positive individuals from other groups. HIF-1α (AUC: 0.983) and HIF-2α (AUC: 0.981) both achieved 100% sensitivity with specificities of 93.3% and 91.1%, respectively. P4H-TM showed an AUC of 0.927, with 85% sensitivity and 95.6% specificity. Conclusions: These findings indicate that HIF-1α, HIF-2α, and P4H-TM may serve as effective biomarkers for diagnosing H. pylori-positive patients and may be linked to changes in lipid metabolism. The elevated expression of these markers in response to H. pylori infection highlights their potential roles in the inflammatory and hypoxic pathways that contribute to the pathogenesis of gastric diseases such as gastritis. Full article

(This article belongs to the Section Gastroenterology & Hepatology)

15 pages, 503 KiB

Open AccessArticle

Pre-Exercise Ingestion of Hydrogen-Rich Cold Water Enhances Endurance Performance and Lactate Response in Heat

by Mariem Khlifi, Nidhal Jebabli, Nejmeddine Ouerghi, Fatma Hilal Yagin, Ashit Kumar Dutta, Reem Alwhaibi and Anissa Bouassida

Medicina 2025, 61(7), 1173; https://doi.org/10.3390/medicina61071173 (registering DOI) - 28 Jun 2025

Abstract

Background and Objectives: Hyperthermia significantly limits endurance performance in hot environments. To enhance heat loss and optimize athletic performance, pre-cooling interventions can be employed to accelerate body cooling. Therefore, the aim of this study was to evaluate the effects of an internal pre-cooling [...] Read more.

Background and Objectives: Hyperthermia significantly limits endurance performance in hot environments. To enhance heat loss and optimize athletic performance, pre-cooling interventions can be employed to accelerate body cooling. Therefore, the aim of this study was to evaluate the effects of an internal pre-cooling intervention combined with external pre-cooling or hydrogen-rich water on endurance performance in the heat. Materials and Methods: In a double-blind crossover with counterbalanced trials, all participants underwent a shuttle run test after 30 min under the following conditions: (1) hydrogen-rich cold water ingestion (HRCW); (2) cold water ingestion and external pre-cooling (IEPC); and (3) cold-water ingestion (control). Maximal aerobic speed (MAS), number of shuttle run repetitions, dehydration, temperature, heart rate (HR), rate of perceived exertion (RPE), blood lactate, and feeling scale (FS) were measured during the 20 m shuttle run test. Results: Our results revealed a significant variation in dehydration, MAS, number of shuttle run repetitions, blood lactate, RPE, and FS (p = [0.001–0.036]); additionally, a significant group × time interaction was found for body temperature (p = 0.021). Post hoc tests revealed a significant change for MAS (HRCW: p < 0.001), number of shuttle run repetitions (HRCW: p < 0.001), dehydration (HRCW: p= 0.009; IEPC: p = 0.008), blood lactate (HRCW: p < 0.001; IEPC: p < 0.001), RPE (HRCW: p = 0.05; IEPC: p = 0.004), and FS (HRCW: p = 0.05; IEPC: p = 0.004), as well as a significant decrease in body temperature (IEPC: p < 0.001; HRCW: p = 0.028) compared to the control condition after the test. However, no significant differences were reported in HR among the different conditions. Conclusions: In conclusion, findings from this study suggest that ingesting hydrogen-rich cold water effectively mitigates the effects of heat stress, thereby improving endurance performance, enhancing mood, and reducing ratings of perceived exertion. Full article

(This article belongs to the Section Sports Medicine and Sports Traumatology)

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19 pages, 737 KiB

Open AccessReview

by Maurizio Marchesini, Diego Fornasari, Silvia Natoli, Elena Vegni and Arturo Cuomo

Medicina 2025, 61(7), 1172; https://doi.org/10.3390/medicina61071172 (registering DOI) - 28 Jun 2025

Abstract

Background and Objectives: Chronic pain (CP), defined as pain persisting for over 3 months, is a significant cause of global disability and affects more than 20% of individuals in Western countries, including Italy. Substantial evidence indicates a higher prevalence of CP among women, [...] Read more.

Background and Objectives: Chronic pain (CP), defined as pain persisting for over 3 months, is a significant cause of global disability and affects more than 20% of individuals in Western countries, including Italy. Substantial evidence indicates a higher prevalence of CP among women, who also experience greater sensitivity, increased frequency, and a longer duration of pain. The impact of CP on quality of life, daily functioning, and employment is profound, particularly for women. However, chronic pain research has insufficiently addressed sex and gender differences, contributing to suboptimal and inequitable care. This neglect limits the development of personalized treatment strategies and, when combined with an aging population and women’s longer life expectancy, highlights an increasing societal and economic burden. Materials and Methods: The authors conducted a narrative review of studies examining biological, psychological, or social determinants of sex-related differences in CP perception or treatment. Each thematic area was reviewed by at least two authors, who critically appraised the literature. Their analyses were refined through iterative group discussions to develop concise, evidence-informed recommendations for personalized and equitable pain management. Results: Sex differences in CP arise from a range of factors, including biological mechanisms such as hormonal and genetic influences, psycho-social factors such as depression and anxiety, and socio-economic determinants, such as income and education levels. These factors also affect sex-specific outcomes of analgesic treatments currently available. Identifying these risk factors and tailoring treatment strategies to sex differences can significantly improve CP management. Such a personalized approach is essential for advancing precision medicine in CP management. Even in the absence of molecular or genomic biomarkers, adopting a biopsychosocial model that considers sex and gender differences, symptoms, physiological indicators, medical history, lifestyle, and psychological aspects may substantially enhance patient outcomes. Conclusions: This review provides a comprehensive analysis of sex differences in CP perception, stressing the importance of individualized, interdisciplinary approaches in pain management. Addressing both the biological and psycho-social contributors to pain in men and women is critical for guiding healthcare professionals in implementing precision pain medicine strategies, ultimately fostering more equitable and effective care. Full article

(This article belongs to the Special Issue Treatment in Patients with Chronic Pain Syndrome)

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16 pages, 727 KiB

Open AccessArticle

Outcome of Preterm Neonates > 32 Weeks Gestation in Relation to Three-Tiered Fetal Heart Rate Categorization

by Jelena Sabljić, Klara Čogelja, Edita Runjić, Blagoja Markoski, Marijana Barbača, Toni Modrić and Boris Bačić

Medicina 2025, 61(7), 1171; https://doi.org/10.3390/medicina61071171 (registering DOI) - 28 Jun 2025

Abstract

Background and Objectives: Electronic fetal heart rate monitoring is mandatory for preterm labor. Moderate to late preterm neonates have an increased risk of overall morbidity, neonatal intensive care (NICU) admission, and consequently, medication use. The outcome of preterm neonates > 32 weeks of [...] Read more.

Background and Objectives: Electronic fetal heart rate monitoring is mandatory for preterm labor. Moderate to late preterm neonates have an increased risk of overall morbidity, neonatal intensive care (NICU) admission, and consequently, medication use. The outcome of preterm neonates > 32 weeks of gestation in relation to three-tiered fetal heart rate (FHR) categorization was analyzed. Materials and Methods: This was a single-center, retrospective case-control study conducted from January 2021 to December 2023. The study included 25 FGR and 131 control cases born from 33 to 36 6/7 gestational weeks. Outcome was defined as the need for assistance after birth in first 15 min of life, respiratory outcome, and first day dopamine use and fresh frozen plasma transfusion. Maternal characteristics as risk factors for non-normal categories within three-tiered FHR categorization were also analyzed. Results: There was no significant difference in neonatal outcome among groups, except significantly lower 1 min APGAR and longer LOS in the FGR group. An increasing category within the three-tiered FHR categorization positively correlated with the need for assistance after birth, respiratory outcome, dopamine use, fresh frozen plasma transfusion, and length of hospital stay. Negative correlations were revealed between the increasing category within the three-tiered FHR categorization and first and fifth minute APGAR scores. Oligohydramnios and male sex were risk factors for non-normal categories within three-tiered FHR categorization. The correlation was tested using the Spearman correlation coefficient. A logistic regression model was employed to identify maternal risk factors for the non-normal category within three-tiered FHR categorization. All differences were statistically significant (p < 0.05). Conclusions: The increasing category within three-tiered FHR categorization may alert neonatologists to be highly suspicious of RDS, respiratory support, dopamine use, and fresh frozen plasma transfusion in neonates born from 33 to 36 6/7 gestational weeks. Oligohydramnios and male sex increase the probability for non-normal categories in the three-tiered FHR categorization. Full article

(This article belongs to the Section Obstetrics and Gynecology)

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16 pages, 909 KiB

Open AccessSystematic Review

Systematic Review and Meta-Analysis of AI-Assisted Mammography and the Systemic Immune-Inflammation Index in Breast Cancer: Diagnostic and Prognostic Perspectives

by Sebastian Ciurescu, Maria Ciupici-Cladovan, Victor Bogdan Buciu, Diana Gabriela Ilaș, Cosmin Cîtu and Ioan Sas

Medicina 2025, 61(7), 1170; https://doi.org/10.3390/medicina61071170 (registering DOI) - 27 Jun 2025

Abstract

Background and Objectives: Breast cancer remains a significant global health burden, demanding continuous innovation in diagnostic and prognostic tools. This meta-analysis and systematic review aims to synthesize evidence from 2015 to 2025 regarding the diagnostic utility of artificial intelligence (AI) in mammography [...] Read more.

Background and Objectives: Breast cancer remains a significant global health burden, demanding continuous innovation in diagnostic and prognostic tools. This meta-analysis and systematic review aims to synthesize evidence from 2015 to 2025 regarding the diagnostic utility of artificial intelligence (AI) in mammography and the prognostic value of the Systemic Immune-Inflammation Index (SII) in breast cancer patients. Materials and Methods: A systematic literature search was conducted in PubMed, Google Scholar, EMBASE, Web of Science, and Scopus. Studies evaluating AI performance in mammographic breast cancer detection and those assessing the prognostic significance of SII (based on routine hematologic parameters) were included. The risk of bias was assessed using QUADAS-2 and the Newcastle–Ottawa Scale. Meta-analyses were conducted using bivariate and random-effects models, with subgroup analyses by clinical and methodological variables. Results: Twelve studies were included, five assessing AI and seven assessing SII. AI demonstrated high diagnostic accuracy, frequently matching or surpassing that of human radiologists, with AUCs of up to 0.93 and notable reductions in radiologist reading times (17–91%). Particularly in dense breast tissue, AI improved detection rates and workflow efficiency. SII was significantly associated with poorer outcomes, including reduced overall survival (HR ~1.97) and disease-free survival (HR ~2.07). However, variability in optimal cut-off values for SII limits its immediate clinical standardization. Conclusions: AI enhances diagnostic precision and operational efficiency in mammographic screening, while SII offers a cost-effective prognostic biomarker for systemic inflammation in breast cancer. Their integration holds promise for more personalized care. Nevertheless, challenges persist regarding prospective validation, standardization, and equitable access, which must be addressed through future translational research. Full article

(This article belongs to the Special Issue New Developments in Diagnosis and Management of Breast Cancer)

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16 pages, 2000 KiB

Open AccessArticle

The Impact of Frailty Indices on Predicting Complications and Functional Recovery in Proximal Humerus Fractures: A Comparative Study

by Ekrem Özdemir, Oya Olcay Özdeş, Fatih Emre Topsakal, Nasuhi Altay and Esra Demirel

Medicina 2025, 61(7), 1169; https://doi.org/10.3390/medicina61071169 (registering DOI) - 27 Jun 2025

Abstract

Background and Objectives: This retrospective cohort study aimed to evaluate the predictive validity of four frailty indices—Modified Frailty Index-5 (mFI-5), Edmonton Frail Scale (EFS), Clinical Frailty Scale (CFS), and Trauma-Specific Frailty Index (TSFI)—in forecasting postoperative complications and functional outcomes in elderly patients with [...] Read more.

Background and Objectives: This retrospective cohort study aimed to evaluate the predictive validity of four frailty indices—Modified Frailty Index-5 (mFI-5), Edmonton Frail Scale (EFS), Clinical Frailty Scale (CFS), and Trauma-Specific Frailty Index (TSFI)—in forecasting postoperative complications and functional outcomes in elderly patients with proximal humerus fractures (PHFs) treated either surgically or conservatively. Materials and Methods: A total of 244 patients aged ≥60 years with PHFs treated at Erzurum Hospital between January 2018 and January 2023 were included. Patients were categorized into surgical (n = 110) and conservative (n = 134) groups. Surgical procedures included open reduction and internal fixation (n = 88), hemiarthroplasty (n = 10), and reverse shoulder arthroplasty (n = 12). Frailty was retrospectively assessed using mFI-5, EFS, CFS, and TSFI based on 24-month follow-up data. Outcomes included complications, reoperations, rehospitalizations, and functional results measured by the American Shoulder and Elbow Surgeons (ASES) score. Results: The overall complication rate was 13.1%, with nonunion being the most common. Reoperation and rehospitalization rates were 10.6% and 20%, respectively. The mean ASES score was 71.3 ± 15.2, with 60% of patients achieving good or excellent outcomes. Frailty scores, particularly mFI-5 and EFS, were significantly higher in the conservatively treated group compared to the surgical group (p < 0.01). Across both treatment modalities, patients with higher frailty scores had significantly increased complication rates; however, this effect was more pronounced in the surgical group. Multivariate logistic regression revealed that mFI-5 significantly predicted complications, reoperations, and rehospitalizations (p < 0.001). EFS was associated with reoperation risk (p = 0.018), while CFS and TSFI were not significantly correlated with any of the outcomes. Conclusions: Among the evaluated indices, mFI-5 showed the strongest predictive accuracy for adverse outcomes in elderly PHF patients. Notably, the negative impact of frailty was more evident among surgically treated patients. Routine frailty assessment may facilitate better risk stratification and individualized treatment planning in this population. Full article

(This article belongs to the Section Orthopedics)

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11 pages, 3071 KiB

Open AccessArticle

Pathologic Response and Survival Outcomes on HER2-Low vs. HER2-Zero in Breast Cancer Receiving Neoadjuvant Chemotherapy

by Rumeysa Colak, Caner Kapar, Ezgi Degerli, Seher Yildiz Tacar, Aysegul Akdogan Gemici, Nursadan Gergerlioglu, Serdar Altinay and Mesut Yilmaz

Medicina 2025, 61(7), 1168; https://doi.org/10.3390/medicina61071168 (registering DOI) - 27 Jun 2025

Abstract

Background and Objectives: The clinical value of HER2-low breast cancer (BC), defined by immunohistochemistry (IHC) scores of 1+ or 2+/ISH-negative without HER2 amplification, remains unclear in the neoadjuvant setting. This study aimed to determine whether HER2-low and HER2-zero tumors differ in pathological [...] Read more.

Background and Objectives: The clinical value of HER2-low breast cancer (BC), defined by immunohistochemistry (IHC) scores of 1+ or 2+/ISH-negative without HER2 amplification, remains unclear in the neoadjuvant setting. This study aimed to determine whether HER2-low and HER2-zero tumors differ in pathological complete response (pCR) rates and disease-free survival (DFS) among early-stage breast cancer patients undergoing neoadjuvant chemotherapy (NAC). Materials and Methods: We retrospectively analyzed 134 early BC patients treated with NAC between 2017 and 2023. Patients were categorized as HER2-zero (IHC 0) or HER2-low (IHC 1+ or 2+/ISH–). The primary endpoint was total pCR (tpCR); secondary endpoints included breast (bpCR), nodal (npCR), and radiologic complete response (rCR), alongside DFS analysis stratified by hormone receptor (HR) status. Results: Of the cohort, 91 patients (67.9%) were HER2-zero and 43 (32.1%) were HER2-low. There was no statistically significant difference in tpCR (26.4% vs. 27.9%, p = 0.852), bpCR (28.6% vs. 30.2%, p = 0.843), npCR (37.4% vs. 32.6%, p = 0.588), and rCR (23.1% vs. 30.2%, p = 0.374) between HER2-zero and HER2-low groups. DFS did not significantly differ between HER2-zero and HER2-low groups overall (p = 0.714), nor within HR-positive (p = 0.540) or TNBC (p = 0.523) subgroups. Conclusions: HER2-low tumors demonstrated similar pathological responses and survival outcomes compared to HER2-zero tumors. While a HER2-low status does not appear to define a distinct biological subtype in early BC, it remains a relevant classification for emerging HER2-targeted therapies, needing further investigation in prospective studies. Full article

(This article belongs to the Section Oncology)

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35 pages, 2186 KiB

Open AccessReview

Exercise Interventions in Breast Cancer: Molecular Mechanisms, Physical Benefits, and Practical Recommendations

by Vasiliki Michou, Stefanos Zervoudis, Panagiotis Eskitzis, Georgios Tsamos, Dimitra Vasdeki, Andriani Vouxinou, Anisa Markja and Georgios Iatrakis

Medicina 2025, 61(7), 1167; https://doi.org/10.3390/medicina61071167 (registering DOI) - 27 Jun 2025

Abstract

Exercise interventions are increasingly recognized as effective non-pharmacological strategies to improve clinical outcomes in patients with breast cancer. This review provides a comprehensive framework linking physical activity with breast cancer risk reduction, disease progression, and survivorship. We first outline the robust epidemiological evidence [...] Read more.

Exercise interventions are increasingly recognized as effective non-pharmacological strategies to improve clinical outcomes in patients with breast cancer. This review provides a comprehensive framework linking physical activity with breast cancer risk reduction, disease progression, and survivorship. We first outline the robust epidemiological evidence demonstrating that regular exercise significantly reduces breast cancer incidence, recurrence, and disease-specific mortality. The review then delves into the molecular mechanisms by which exercise exerts its protective effects, including modulation of sex hormones, metabolic hormones, systemic inflammation, oxidative stress, circulating microRNAs, and breast cancer-related DNA methylation. Furthermore, we summarize findings from clinical trials evaluating the effects of exercise on cardiorespiratory fitness, functional capacity, and quality of life in breast cancer patients. Emerging research on the synergistic potential of exercise with conventional cancer treatments and bioactive dietary components, particularly polyphenols such as saffron and curcumin, is also discussed. Finally, we present evidence-based exercise recommendations tailored to breast cancer patients, emphasizing the importance of individualized prescriptions to optimize safety and therapeutic benefit. Collectively, this review highlights the multifaceted role of exercise in breast cancer prevention, treatment, and survivorship. Full article

(This article belongs to the Special Issue Recent Advances in Diagnosis and Therapy of Gynecologic and Breast Cancers)

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14 pages, 2139 KiB

Open AccessArticle

Cross-Sectional Study: Associations of A20 and Cezanne with Leukocyte Accumulation in B-Cell Acute Lymphoblastic Leukemia

by Le Thuy Ha, Nguyen Hoang Giang, Nguyen Linh Toan, Nguyen Van Giang, Can Van Mao, Nguyen Quoc Nhat, Tran Dang Quan, Nguyen Huy Hoang, Ngo Thu Hang and Nguyen Thi Xuan

Medicina 2025, 61(7), 1166; https://doi.org/10.3390/medicina61071166 (registering DOI) - 27 Jun 2025

Abstract

Background and Objectives: Acute lymphoblastic leukemia (ALL) is a hematologic malignancy characterized by the aberrant proliferation of immature lymphoid cells. Lymphoblasts derived from the B-cell lymphoid lineage are identified as B-ALL. A20, CYLD and Cezanne are deubiquitinase genes that inhibit inflammatory response and [...] Read more.

Background and Objectives: Acute lymphoblastic leukemia (ALL) is a hematologic malignancy characterized by the aberrant proliferation of immature lymphoid cells. Lymphoblasts derived from the B-cell lymphoid lineage are identified as B-ALL. A20, CYLD and Cezanne are deubiquitinase genes that inhibit inflammatory response and tumor progression. Age-related increases in tumor necrosis factor (TNF)-α are associated with poor outcomes in ALL. Little is known about the associations of A20, CYLD and Cezanne with leukocyte accumulation in B-ALL. Materials and Methods: Blood samples of 147 patients with B-ALL and 144 healthy subjects were examined. Gene expression profiles were determined by quantitative PCR, gene polymorphisms by direct DNA sequencing, immunophenotype by flow cytometry and secretion of inflammatory cytokines by an ELISA. Results: Genetic analysis of the A20 gene identified six nucleotide changes in exon 7. Sequencing of the Cezanne gene identified three variants in intron 10. The results indicated that B-ALL patients carrying the A20 p.P348L and Cezanne rs1230581026 variants had higher variant frequencies and lower expression levels than healthy controls. Importantly, carriers of the A20 p.P348L variant had a higher numbers of CD20⁺ and HLA DR⁺ cells than those with a normal genotype, and carriers of the Cezanne rs1230581026 variant had increases in neutrophil, basophil, monocyte, lymphocyte, and CD38⁺ cell counts as well as age-related increases in the levels of TNF-α. Conclusions: The results indicate that the A20 p.P348L and Cezanne rs1230581026 variants are associated with low expression levels of A20/Cezanne, leukocyte expansion and poor outcomes in B-ALL patients. Full article

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

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