Diseases

10 pages, 1086 KiB

Open AccessArticle

Clinical Practice Patterns of Assessment and Interventions for Elderly Patients with a Hip Fracture Who Are at Risk of Dysphagia—A Survey

by Stine Mølgaard Kristoffersen, Signe Westmark and Dorte Melgaard

Diseases 2025, 13(8), 253; https://doi.org/10.3390/diseases13080253 - 8 Aug 2025

Abstract

Objective: Dysphagia is common among elderly patients after hip fracture surgery and can lead to aspiration pneumonia, malnutrition, and delayed rehabilitation. This study aims to present current clinical practice patterns of assessment and intervention for dysphagia in this patient group. Methods: The study [...] Read more.

Objective: Dysphagia is common among elderly patients after hip fracture surgery and can lead to aspiration pneumonia, malnutrition, and delayed rehabilitation. This study aims to present current clinical practice patterns of assessment and intervention for dysphagia in this patient group. Methods: The study was conducted through a two-round online questionnaire targeting Danish occupational therapists with expertise in dysphagia post hip fracture. Results: A total of 71 therapists participated in round one, and 44 (62%) completed round two. Triggers for assessment included coughing, recurrent pneumonia, voice changes, altered eating habits, unplanned weight loss, functional decline, and comorbidities; age was rarely used. Frequently used assessment tools were Facio-Oral Tract Therapy (57.1%), the Minimal Eating Observation Form—Version II (40%) and the Volume–Viscosity Swallow Test (41.4%). Key interventions included texture modification, posture correction, patient education, oral hygiene optimization, compensatory strategies, and dysphagia training; oral screens and electrical stimulation were less common. Conclusions: This study provides a descriptive overview of current dysphagia assessment triggers, tools, and interventions used for elderly hip fracture patients in Denmark. The findings highlight clinical practice patterns that can inform future research on patient outcomes and the effectiveness of specific interventions in this population. Full article

► Show Figures

Figure 1

14 pages, 1388 KiB

Open AccessReview

Cardiovascular Complications of COVID-19 Disease: A Narrative Review

by Andrea Denegri, Valeria Dall’Ospedale, Marco Covani, Michal Pruc, Lukasz Szarpak and Giampaolo Niccoli

Diseases 2025, 13(8), 252; https://doi.org/10.3390/diseases13080252 - 8 Aug 2025

Abstract

Background: The coronavirus disease 2019 (COVID-19), caused by SARS-CoV-2, has had a profound impact on global health, extending beyond pulmonary complications. Cardiovascular involvement in COVID-19 is multifactorial and may be influenced by viral load, inflammatory response, and pre-existing comorbidities. Discussion: Acute complications include [...] Read more.

Background: The coronavirus disease 2019 (COVID-19), caused by SARS-CoV-2, has had a profound impact on global health, extending beyond pulmonary complications. Cardiovascular involvement in COVID-19 is multifactorial and may be influenced by viral load, inflammatory response, and pre-existing comorbidities. Discussion: Acute complications include myocardial injury, arrhythmias, acute coronary syndromes (ACS), heart failure, Takotsubo cardiomyopathy, myopericarditis, and cardiac arrest. Notably, atrial fibrillation (AF) emerges as a frequent arrhythmic complication, particularly among critically ill patients, and is associated with increased mortality. COVID-19-patients with concomitant ACS present more severe clinical profiles and higher rates of thrombotic events, including stent thrombosis. Cardiac arrest predominantly presents with non-shockable rhythms and is associated with dismal outcomes. COVID-19 also exacerbates heart failure, both by aggravating existing cardiac dysfunction or by precipitating de novo heart failure. Takotsubo cardiomyopathy and myocarditis, although less frequent, have been reported and are often underdiagnosed due to subtle clinical presentations. Right ventricular dysfunction, linked to pulmonary involvement, has emerged as a key prognostic marker. Post-COVID-19 syndrome include persistent cardiac abnormalities such as reduced ventricular function and myocardial inflammation. Cardiac magnetic resonance imaging and strain echocardiography have proven useful in identifying subclinical cardiac involvement. Conclusions: Early recognition and monitoring of cardiovascular complications are crucial for improving outcomes in patients affected by COVID-19. This review summarizes current evidence regarding cardiovascular manifestations associated with COVID-19. Full article

► Show Figures

Figure 1

12 pages, 1524 KiB

Open AccessCase Report

An Uncharted Path of Metastasis: A Case Report of Sigmoid Colon Cancer with Synchronous Vaginal and Urethral Spread

by John Fernando Montenegro, Giovanna Patricia Rivas Tafur, Miguel Diaz, Diego Fernando Alzate, María Camila Faria, Daniel Florez, Richard Andrés Acuña, Cesar Eduardo and Yamil Liscano

Diseases 2025, 13(8), 251; https://doi.org/10.3390/diseases13080251 - 8 Aug 2025

Abstract

Background and Objective: Colorectal cancer (CRC) most commonly metastasizes to the liver and lungs; however, synchronous metastases to pelvic structures such as the vagina and urethra are extremely rare, posing a significant diagnostic and therapeutic challenge. This report describes an unusual case of [...] Read more.

Background and Objective: Colorectal cancer (CRC) most commonly metastasizes to the liver and lungs; however, synchronous metastases to pelvic structures such as the vagina and urethra are extremely rare, posing a significant diagnostic and therapeutic challenge. This report describes an unusual case of sigmoid colon adenocarcinoma with synchronous metastases to the vagina and urethra, highlighting its diagnostic evaluation and the value of a multidisciplinary approach. Methods: A 59-year-old woman with a history of deep vein thrombosis treated with apixaban presented with chronic constipation and pelvic bleeding. A gynecological evaluation revealed a vaginal lesion. A colonoscopy, biopsy, pelvic magnetic resonance imaging, and molecular profiling were performed. Treatment included chemotherapy (capecitabine and oxaliplatin), panitumumab, and pelvic radiotherapy. Results: The biopsy confirmed a moderately differentiated invasive adenocarcinoma in the sigmoid colon with synchronous metastases to the vagina and urethra. Molecular profiling identified a rat sarcoma virus oncogene and BRAF (B-Raf proto-oncogene), allowing for the use of targeted therapy. The patient achieved a complete response according to RECIST 1.1 criteria and significant symptomatic improvement, including pain reduction, although dosages were adjusted for thrombocytopenia. She is currently continuing palliative treatment with good tolerance and durable symptomatic improvement. Conclusions: This case underscores the need to consider unusual metastatic sites in patients with colorectal cancer presenting with gynecological symptoms. Early diagnosis, based on imaging and histology, alongside molecular characterization, is crucial for effective personalized therapy. Multidisciplinary coordination is key to optimizing clinical outcomes in these rare metastatic presentations. Full article

(This article belongs to the Section Gastroenterology)

► Show Figures

Figure 1

24 pages, 1523 KiB

Open AccessReview

Host–Microbiome Interaction in the Intensive Care Unit

by Maria Adriana Neag, Andrei Otto Mitre, Irina Georgiana Pomana, Maria Amalia Velescu, Claudia Militaru, Georgiana Nagy and Carmen Stanca Melincovici

Diseases 2025, 13(8), 250; https://doi.org/10.3390/diseases13080250 - 7 Aug 2025

Abstract

Critical illness profoundly disrupts the gut microbiota leading to a state of dysbiosis characterized by reduced microbial diversity and overrepresentation of pathogenic taxa such as Enterobacteriaceae and Proteobacteria. This dysbiotic shift compromises gut barrier integrity and modulates immune responses, contributing to systemic inflammation [...] Read more.

Critical illness profoundly disrupts the gut microbiota leading to a state of dysbiosis characterized by reduced microbial diversity and overrepresentation of pathogenic taxa such as Enterobacteriaceae and Proteobacteria. This dysbiotic shift compromises gut barrier integrity and modulates immune responses, contributing to systemic inflammation and increasing susceptibility to nosocomial infections and multi-organ dysfunction. Nutritional strategies in the ICU significantly influence the composition and function of the gut microbiota. Enteral nutrition supports the maintenance of microbial diversity and gut mucosal health, whereas parenteral nutrition is associated with mucosal atrophy and further microbial imbalance. Emerging interventions, including the administration of probiotics, prebiotics, synbiotics, and fermented products like kefir, show promise in restoring microbial equilibrium and improving patient outcomes. This review presents current evidence on the alterations of the gut microbiota in critically ill patients, explores the systemic consequences of dysbiosis, and evaluates the impact of nutritional and microbiota-targeted therapies in improving patient outcomes. Full article

(This article belongs to the Special Issue Microbiota in Human Disease)

► Show Figures

Figure 1

25 pages, 1689 KiB

Open AccessReview

Practical Considerations in the Management of Frail Older People with Diabetes

by Dima Abdelhafiz and Ahmed Abdelhafiz

Diseases 2025, 13(8), 249; https://doi.org/10.3390/diseases13080249 - 6 Aug 2025

Abstract

With increasing life expectancy, the number of older people living with comorbid diabetes and frailty is increasing. The development of frailty accelerates diabetes-related adverse outcomes. Frailty is a multidimensional syndrome with physical, mental and social aspects which is associated with increased risk of [...] Read more.

With increasing life expectancy, the number of older people living with comorbid diabetes and frailty is increasing. The development of frailty accelerates diabetes-related adverse outcomes. Frailty is a multidimensional syndrome with physical, mental and social aspects which is associated with increased risk of hypoglycaemia, dementia and hospitalisation. Therefore, regular screening for all aspects of frailty should be an integrated part of the care plans of older people with diabetes. In addition, every effort should be made for prevention, which includes adequate nutrition combined with regular resistance exercise training. In already frail older people with diabetes, metabolic targets should be relaxed and hypoglycaemic agents should be of low hypoglycaemic risk potential. Furthermore, the metabolic phenotype of frailty should be considered when choosing hypoglycaemic agents and determining targets. With increasing severity of frailty, proactive chronological plans of de-escalation, palliation and end-of-life care should be considered. These plans should be undertaken in a shared decision-making manner which involves patients and their families. This ensures that patients’ views, wishes and preferences are in the heart of these plans. Full article

► Show Figures

Figure 1

22 pages, 2029 KiB

Open AccessArticle

Regulatory Effects of Endometriosis-Associated Genetic Variants: A Multi-Tissue eQTL Analysis

by Asbiel Felipe Garibaldi-Ríos, Perla Graciela Rodríguez-Gutiérrez, Jesús Magdiel García-Díaz, Guillermo Moisés Zúñiga-González, Luis E. Figuera, Belinda Claudia Gómez-Meda, Ana María Puebla-Pérez, Ingrid Patricia Dávalos-Rodríguez, Blanca Miriam Torres-Mendoza, Itzae Adonai Gutiérrez-Hurtado and Martha Patricia Gallegos-Arreola

Diseases 2025, 13(8), 248; https://doi.org/10.3390/diseases13080248 - 6 Aug 2025

Abstract

Backgroud. Endometriosis is a chronic, estrogen-dependent inflammatory disease characterized by the ectopic presence of endometrial-like tissue. Although genome-wide association studies (GWAS) have identified susceptibility variants, their tissue-specific regulatory impact remains poorly understood. Objective. To functionally characterize endometriosis-associated variants by exploring their regulatory effects [...] Read more.

Backgroud. Endometriosis is a chronic, estrogen-dependent inflammatory disease characterized by the ectopic presence of endometrial-like tissue. Although genome-wide association studies (GWAS) have identified susceptibility variants, their tissue-specific regulatory impact remains poorly understood. Objective. To functionally characterize endometriosis-associated variants by exploring their regulatory effects as expression quantitative trait loci (eQTLs) across six physiologically relevant tissues: peripheral blood, sigmoid colon, ileum, ovary, uterus, and vagina. Methods. GWAS-identified variants were cross-referenced with tissue-specific eQTL data from the GTEx v8 database. We prioritized genes either frequently regulated by eQTLs or showing the strongest regulatory effects (based on slope values, which indicate the direction and magnitude of the effect on gene expression). Functional interpretation was performed using MSigDB Hallmark gene sets and Cancer Hallmarks gene collections. Results. A tissue specificity was observed in the regulatory profiles of eQTL-associated genes. In the colon, ileum, and peripheral blood, immune and epithelial signaling genes predominated. In contrast, reproductive tissues showed the enrichment of genes involved in hormonal response, tissue remodeling, and adhesion. Key regulators such as MICB, CLDN23, and GATA4 were consistently linked to hallmark pathways, including immune evasion, angiogenesis, and proliferative signaling. Notably, a substantial subset of regulated genes was not associated with any known pathway, indicating potential novel regulatory mechanisms. Conclusions. This integrative approach highlights the com-plexity of tissue-specific gene regulation mediated by endometriosis-associated variants. Our findings provide a functional framework to prioritize candidate genes and support new mechanistic hypotheses for the molecular pathophysiology of endometriosis. Full article

► Show Figures

Figure 1

11 pages, 468 KiB

Open AccessArticle

Association of Therapeutic Plasma Exchange-Treated Thrombotic Thrombocytopenic Purpura with Improved Mortality Outcome in End-Stage Renal Disease

by Brenna S. Kincaid, Kiana Kim, Jennifer L. Waller, Stephanie L. Baer, Wendy B. Bollag and Roni J. Bollag

Diseases 2025, 13(8), 247; https://doi.org/10.3390/diseases13080247 - 5 Aug 2025

Abstract

Background/Objectives: Thrombotic thrombocytopenic purpura (TTP) is a microangiopathic hemolytic anemia exhibiting 90% mortality without prompt treatment. The aim of this study was to investigate the association of therapeutic plasma exchange (TPE)-treated TTP in end-stage renal disease (ESRD) patients with mortality, demographics, and [...] Read more.

Background/Objectives: Thrombotic thrombocytopenic purpura (TTP) is a microangiopathic hemolytic anemia exhibiting 90% mortality without prompt treatment. The aim of this study was to investigate the association of therapeutic plasma exchange (TPE)-treated TTP in end-stage renal disease (ESRD) patients with mortality, demographics, and clinical comorbidities. We queried the United States Renal Data System for ESRD patients starting dialysis between 1 January 2005 and 31 December 2018, using International Classification of Diseases (ICD)-9 and ICD-10 codes for thrombotic microangiopathy, with a TPE procedure code entered within 7 days. Methods: Cox proportional hazards models were used to assess mortality, adjusting for demographic and clinical factors. Results: Among 1,155,136 patients, increased age [adjusted odds ratio (OR) = 0.96, 95% confidence interval (CI): 0.94–0.96]; black race (OR = 0.67, CI: 0.51–0.89); and Hispanic ethnicity (OR = 0.43, CI: 0.28–0.66) were associated with a lower risk of TPE-treated TTP diagnosis, whereas female sex (OR = 1.59, CI: 1.25–2.02) and tobacco use (OR = 2.08, CI: 1.58–2.75) had a higher risk. A claim for TPE-treated TTP carried a lower risk of death (adjusted hazard ratio = 0.024, CI: 0.021–0.028). Female sex, black race, Hispanic ethnicity, and hypothyroidism were also associated with decreased all-cause mortality. Conclusions: These findings suggest that ESRD patients with TPE-treated TTP are significantly protected from mortality compared with ESRD patients without this diagnosis. Full article

► Show Figures

Figure 1

23 pages, 11168 KiB

Open AccessArticle

Persistent Inflammation, Maladaptive Remodeling, and Fibrosis in the Kidney Following Long COVID-like MHV-1 Mouse Model

by Rajalakshmi Ramamoorthy, Anna Rosa Speciale, Emily M. West, Hussain Hussain, Nila Elumalai, Klaus Erich Schmitz Abe, Madesh Chinnathevar Ramesh, Pankaj B. Agrawal, Arumugam R. Jayakumar and Michael J. Paidas

Diseases 2025, 13(8), 246; https://doi.org/10.3390/diseases13080246 - 5 Aug 2025

Abstract

Background: Accumulating evidence indicates that SARS-CoV-2 infection results in long-term multiorgan complications, with the kidney being a primary target. This study aimed to characterize the long-term transcriptomic changes in the kidney following coronavirus infection using a murine model of MHV-1-induced SARS-like illness and [...] Read more.

Background: Accumulating evidence indicates that SARS-CoV-2 infection results in long-term multiorgan complications, with the kidney being a primary target. This study aimed to characterize the long-term transcriptomic changes in the kidney following coronavirus infection using a murine model of MHV-1-induced SARS-like illness and to evaluate the therapeutic efficacy of SPIKENET (SPK). Methods: A/J mice were infected with MHV-1. Renal tissues were collected and subjected to immunofluorescence analysis and Next Generation RNA Sequencing to identify differentially expressed genes associated with acute and chronic infection. Bioinformatic analyses, including PCA, volcano plots, and GO/KEGG pathway enrichment, were performed. A separate cohort received SPK treatment, and comparative transcriptomic profiling was conducted. Gene expression profile was further confirmed using real-time PCR. Results: Acute infection showed the upregulation of genes involved in inflammation and fibrosis. Long-term MHV-1 infection led to the sustained upregulation of genes involved in muscle regeneration, cytoskeletal remodeling, and fibrotic responses. Notably, both expression and variability of SLC22 and SLC22A8, key proximal tubule transporters, were reduced, suggesting a loss of segment-specific identity. Further, SLC12A1, a critical regulator of sodium reabsorption and blood pressure, was downregulated and is associated with the onset of polyuria and hydronephrosis. SLC transporters exhibited expression patterns consistent with tubular dysfunction and inflammation. These findings suggest aberrant activation of myogenic pathways and structural proteins in renal tissues, consistent with a pro-fibrotic phenotype. In contrast, SPK treatment reversed the expression of most genes, thereby restoring the gene profiles to those observed in control mice. Conclusions: MHV-1-induced long COVID is associated with persistent transcriptional reprogramming in the kidney, indicative of chronic inflammation, cytoskeletal dysregulation, and fibrogenesis. SPK demonstrates robust therapeutic potential by normalizing these molecular signatures and preventing long-term renal damage. These findings underscore the relevance of the MHV-1 model and support further investigation of SPK as a candidate therapy for COVID-19-associated renal sequelae. Full article

(This article belongs to the Special Issue COVID-19 and Global Chronic Disease 2025: New Challenges)

► Show Figures

Figure 1

23 pages, 5695 KiB

Open AccessArticle

Impact of miR-181a on SIRT1 Expression and Senescence in Hutchinson–Gilford Progeria Syndrome

by Eva-Maria Lederer, Felix Quirin Fenzl, Peter Krüger, Moritz Schroll, Ramona Hartinger and Karima Djabali

Diseases 2025, 13(8), 245; https://doi.org/10.3390/diseases13080245 - 4 Aug 2025

Abstract

Background/Objectives: Hutchinson–Gilford progeria syndrome (HGPS) is a rare and fatal genetic disease caused by a silent mutation in the LMNA gene, leading to the production of progerin, a defective prelamin A variant. Progerin accumulation disrupts nuclear integrity, alters chromatin organization, and drives systemic [...] Read more.

Background/Objectives: Hutchinson–Gilford progeria syndrome (HGPS) is a rare and fatal genetic disease caused by a silent mutation in the LMNA gene, leading to the production of progerin, a defective prelamin A variant. Progerin accumulation disrupts nuclear integrity, alters chromatin organization, and drives systemic cellular dysfunction. While autophagy and inflammation are key dysregulated pathways in HGPS, the role of microRNAs (miRNAs) in these processes remains poorly understood. Methods: We performed an extensive literature review to identify miRNAs involved in autophagy and inflammation. Through stem-loop RT-qPCR in aging HGPS and control fibroblast strains, we identified significant miRNAs and focused on the most prominent one, miR-181a-5p, for in-depth analysis. We validated our in vitro findings with miRNA expression studies in skin biopsies from an HGPS mouse model and conducted functional assays in human fibroblasts, including immunofluorescence staining, β-Galactosidase assay, qPCR, and Western blot analysis. Transfection studies were performed using an miR-181a-5p mimic and its inhibitor. Results: We identified miR-181a-5p as a critical regulator of premature senescence in HGPS. miR-181a-5p was significantly upregulated in HGPS fibroblasts and an HGPS mouse model, correlating with Sirtuin 1 (SIRT1) suppression and induction of senescence. Additionally, we demonstrated that TGFβ1 induced miR-181a-5p expression, linking inflammation to miRNA-mediated senescence. Inhibiting miR-181a-5p restored SIRT1 levels, increased proliferation, and alleviated senescence in HGPS fibroblasts, supporting its functional relevance in disease progression. Conclusions: These findings highlight the important role of miR-181a-5p in premature aging and suggest its potential as a therapeutic target for modulating senescence in progeroid syndromes. Full article

(This article belongs to the Section Rare Syndrome)

► Show Figures

Figure 1

19 pages, 1179 KiB

Open AccessReview

Ophthalmic Complications After Dental Procedures: Scoping Review

by Xingao C. Wang, Cindy Zhao, Kevin Y. Wu and Michael Marchand

Diseases 2025, 13(8), 244; https://doi.org/10.3390/diseases13080244 - 4 Aug 2025

Abstract

Introduction: Ocular complications associated with dental procedures are diverse but have been primarily reported through case reports and series, with no comprehensive reviews to date. The underlying mechanisms of these complications are often poorly understood by medical professionals, partly due to limited interdisciplinary [...] Read more.

Introduction: Ocular complications associated with dental procedures are diverse but have been primarily reported through case reports and series, with no comprehensive reviews to date. The underlying mechanisms of these complications are often poorly understood by medical professionals, partly due to limited interdisciplinary education. This review aims to bridge this gap by summarizing the relevant anatomical connections between the oral and ocular regions, exploring the mechanisms through which dental procedures may lead to ophthalmic complications, and detailing their clinical presentations, progression, and potential management and preventive strategies. Methods: Published case reports and case series from 1950 to October 2024 that described ophthalmic complications in human patients following dental procedures were included in this scoping review. Results: Dental procedures can give rise to a variety of ophthalmological complications, whether neuro–ophthalmic (e.g., diplopia, ptosis, or vision loss), vascular (e.g., retrobulbar hemorrhage or cervical artery dissection), infectious (e.g., orbital cellulitis or abscess), mechanical (e.g., orbital trauma or fractures), or air-related (e.g., orbital and subcutaneous emphysema). Conclusions: Most of the ophthalmological complications following dental procedures are often reversible, but some can be vision-threatening or lead to permanent sequelae if not promptly recognized and managed. Prevention through precise technique and anatomical awareness, early identification of symptoms, and timely multidisciplinary collaboration are crucial to minimizing risks and ensuring better patient outcomes. Full article

► Show Figures

Figure 1

12 pages, 1164 KiB

Open AccessCase Report

Chronic Hyperplastic Candidiasis—An Adverse Event of Secukinumab in the Oral Cavity: A Case Report and Literature Review

by Ana Glavina, Bruno Špiljak, Merica Glavina Durdov, Ivan Milić, Marija Ana Perko, Dora Mešin Delić and Liborija Lugović-Mihić

Diseases 2025, 13(8), 243; https://doi.org/10.3390/diseases13080243 - 3 Aug 2025

Abstract

Secukinumab (SEC) is a recombinant, fully human monoclonal antibody that is selective for interleukin-17A (IL-17A). SEC may increase the risk of developing infections such as oral herpes and oral candidiasis. The aim of this case report and literature review was to describe chronic [...] Read more.

Secukinumab (SEC) is a recombinant, fully human monoclonal antibody that is selective for interleukin-17A (IL-17A). SEC may increase the risk of developing infections such as oral herpes and oral candidiasis. The aim of this case report and literature review was to describe chronic hyperplastic candidiasis (CHC) in a patient with psoriasis (PsO) and psoriatic arthritis (PsA) treated with SEC. CHC is a rare and atypical clinical entity. A definitive diagnosis requires biopsy of the oral mucosa for histopathological diagnosis (PHD). The differential diagnosis includes hairy tongue, hairy leukoplakia, oral lichen planus (OLP), oral lichenoid reaction (OLR), leukoplakia, frictional keratosis, morsication, oral psoriasis, syphilis, and oral lesions associated with coronavirus disease (COVID-19). In addition to the usual factors (xerostomia, smoking, antibiotics, vitamin deficiency, immunosuppression, comorbidities), the new biological therapies/immunotherapies are a predisposing factor for oral candidiasis. The therapeutic approach must be multidisciplinary and in consultation with a clinical immunologist. Dentists and specialists (oral medicine, dermatologists, rheumatologists) must be familiar with the oral adverse events of the new biological therapies. Simultaneous monitoring of patients by clinical immunology and oral medicine specialists is crucial for timely diagnosis and therapeutic intervention to avoid possible adverse events and improve quality of life (QoL). Full article

(This article belongs to the Special Issue Oral Health and Care)

► Show Figures

Figure 1

13 pages, 3776 KiB

Open AccessArticle

Focused View CT Urography: Towards a Randomized Trial Investigating the Relevance of Incidental Findings in Patients with Hematuria

by Tim E. Sluijter, Christian Roest, Derya Yakar and Thomas C. Kwee

Diseases 2025, 13(8), 242; https://doi.org/10.3390/diseases13080242 - 1 Aug 2025

Abstract

Background: Computed tomography urography (CTU) is routinely used to evaluate the upper urinary tract in patients with hematuria. CTU may detect incidental findings outside the urinary tract, but it remains unclear if this adds value. This study aimed to develop a deep learning [...] Read more.

Background: Computed tomography urography (CTU) is routinely used to evaluate the upper urinary tract in patients with hematuria. CTU may detect incidental findings outside the urinary tract, but it remains unclear if this adds value. This study aimed to develop a deep learning algorithm that automatically segments and selectively visualizes the urinary tract on CTU. Methods: The urinary tract (kidneys, ureters, and urinary bladder) was manually segmented on 2 mm dual-phase CTU slices of 111 subjects. With this dataset, a deep learning-based AI was trained to automatically segment and selectively visualize the urinary tract on CTU scans (including accompanying unenhanced CT scans), which we dub “focused view CTU”. Focused view CTU was technically optimized and tested in 39 subjects with hematuria. Results: The technically optimized focused view CTU algorithm provided complete visualization of 97.4% of kidneys, 80.8% of ureters, and 94.9% of urinary bladders. All urinary tract organs were completely visualized in 66.6% of cases. In these cases (excluding 33.3% of cases with incomplete visualization), focused view CTU intrinsically achieved a sensitivity, specificity, positive predictive value, and negative predictive value of 100.0%, 92.3%, 92.9%, and 100.0% for lesions in the urinary tract compared to unmodified CT, although interrater agreement was moderate (κ = 0.528). All incidental findings were successfully hidden by focused view CTU. Conclusions: Focused view CTU provides adequate urinary tract segmentation in most cases, but further research is needed to optimize the technique (segmentation does not succeed in about one-third of cases). It offers selective urinary tract visualization, potentially aiding in assessing relevance and cost-effectiveness of detecting incidental findings in hematuria patients through a prospective randomized trial. Full article

► Show Figures

Figure 1

25 pages, 7131 KiB

Open AccessArticle

Spatiotemporal Patterns of Non-Communicable Disease Mortality in the Metropolitan Area of the Valley of Mexico, 2000–2019

by Constantino González-Salazar, Kathia Gasca-Gómez and Omar Cordero-Saldierna

Diseases 2025, 13(8), 241; https://doi.org/10.3390/diseases13080241 - 1 Aug 2025

Abstract

Background: Non-communicable diseases (NCDs) are a leading cause of mortality globally, contributing significantly to the burden on healthcare systems. Understanding the spatiotemporal patterns of NCD mortality is crucial for identifying vulnerable populations and regions at high risk. Objectives: Here, we evaluated the spatiotemporal [...] Read more.

Background: Non-communicable diseases (NCDs) are a leading cause of mortality globally, contributing significantly to the burden on healthcare systems. Understanding the spatiotemporal patterns of NCD mortality is crucial for identifying vulnerable populations and regions at high risk. Objectives: Here, we evaluated the spatiotemporal patterns of NCD mortality in the Metropolitan Area of the Valley of Mexico (MAVM) from 2000 to 2019 for five International Classification of Diseases chapters (4, 5, 6, 9, and 10) at two spatial scales: the municipal level and metropolitan region. Methods: Mortality rates were calculated for the total population and stratified by sex and age groups at both spatial scales. In addition, the relative risk (RR) of mortality was estimated to identify vulnerable population groups and regions with a high risk of mortality, using women and the 25–34 age group as reference categories for population-level analysis, and the overall MAVM mortality rate as the reference for municipal-level analysis. Results: Mortality trends showed that circulatory-system diseases (Chapter 9) are emerging as a concerning health issue, with 45 municipalities showing increasing mortality trends, especially among older adults. Respiratory-system diseases (Chapter 10), mental and behavioral disorders (Chapter 5) and nervous-system diseases (Chapter 6) predominantly did not exhibit a consistent general mortality trend. However, upon disaggregating by sex and age groups, specific negative or positive trends emerged at the municipal level for some of these chapters or subgroups. Endocrine, nutritional, and metabolic diseases (Chapter 4) showed a complex pattern, with some age groups presenting increasing mortality trends, and 52 municipalities showing increasing trends overall. The RR showed men and older age groups (≥35 years) exhibiting higher mortality risks. The temporal trend of RR allowed us to identify spatial mortality hotspots mainly in chapters related to circulatory, endocrine, and respiratory diseases, forming four geographical clusters in Mexico City that show persistent high risk of mortality. Conclusions: The spatiotemporal analysis highlights municipalities and vulnerable populations with a consistently elevated mortality risk. These findings emphasize the need for monitoring NCD mortality patterns at both the municipal and metropolitan levels to address disparities and guide the implementation of health policies aimed at reducing mortality risk in vulnerable populations. Full article

► Show Figures

Figure 1

18 pages, 323 KiB

Open AccessReview

Pancreatic Stone Protein as a Versatile Biomarker: Current Evidence and Clinical Applications

by Federica Arturi, Gabriele Melegari, Riccardo Mancano, Fabio Gazzotti, Elisabetta Bertellini and Alberto Barbieri

Diseases 2025, 13(8), 240; https://doi.org/10.3390/diseases13080240 - 31 Jul 2025

Abstract

Background: The identification and clinical implementation of robust biomarkers are essential for improving diagnosis, prognosis, and treatment across a wide range of diseases. Pancreatic stone protein (PSP) has recently emerged as a promising candidate biomarker. Objective: This narrative review aims to provide an [...] Read more.

Background: The identification and clinical implementation of robust biomarkers are essential for improving diagnosis, prognosis, and treatment across a wide range of diseases. Pancreatic stone protein (PSP) has recently emerged as a promising candidate biomarker. Objective: This narrative review aims to provide an updated and comprehensive overview of the clinical applications of PSP in infectious, oncological, metabolic, and surgical contexts. Methods: We conducted a structured literature search using PubMed^®, applying the SANRA framework for narrative reviews. Boolean operators were used to retrieve relevant studies on PSP in a wide range of clinical conditions, including sepsis, gastrointestinal cancers, diabetes, and ventilator-associated pneumonia. Results: PSP has shown strong diagnostic and prognostic potential in sepsis, where it may outperform traditional markers such as CRP and PCT. It has also demonstrated relevance in gastrointestinal cancers, type 1 and type 2 diabetes, and perioperative infections. PSP levels appear to rise earlier than other inflammatory markers and may be less affected by sterile inflammation. Conclusion: PSP represents a versatile and clinically valuable biomarker. Its integration into diagnostic protocols could enhance early detection and risk stratification in critical care and oncology settings. However, widespread adoption is currently limited by the availability of point-of-care assay platforms. Full article

► Show Figures

Graphical abstract

20 pages, 407 KiB

Open AccessArticle

Metabotype Risk Clustering Based on Metabolic Disease Biomarkers and Its Association with Metabolic Syndrome in Korean Adults: Findings from the 2016–2023 Korea National Health and Nutrition Examination Survey (KNHANES)

by Jimi Kim

Diseases 2025, 13(8), 239; https://doi.org/10.3390/diseases13080239 - 28 Jul 2025

Abstract

Background: Metabolic syndrome (MetS) is a multifactorial condition involving central obesity, dyslipidemia, hypertension, and impaired glucose metabolism, significantly increasing the risk of type 2 diabetes and cardiovascular disease. Objectives: Given the clinical heterogeneity of MetS, this study aimed to identify distinct metabolic phenotypes, [...] Read more.

Background: Metabolic syndrome (MetS) is a multifactorial condition involving central obesity, dyslipidemia, hypertension, and impaired glucose metabolism, significantly increasing the risk of type 2 diabetes and cardiovascular disease. Objectives: Given the clinical heterogeneity of MetS, this study aimed to identify distinct metabolic phenotypes, referred to as metabotypes, using validated biomarkers and to examine their association with MetS. Materials and Methods: A total of 1245 Korean adults aged 19–79 years were selected from the 2016–2023 Korea National Health and Nutrition Examination Survey. Metabotype risk clusters were derived using k-means clustering based on five biomarkers: body mass index (BMI), uric acid, fasting blood glucose (FBG), high-density lipoprotein cholesterol (HDLc), and non-HDL cholesterol (non-HDLc). Multivariable logistic regression was used to assess associations with MetS. Results: Three distinct metabotype risk clusters (low, intermediate, and high risk) were identified. The high-risk cluster exhibited significantly worse metabolic profiles, including elevated BMI, FBG, HbA1c, triglyceride, and reduced HDLc. The prevalence of MetS increased progressively across metabotype risk clusters (OR: 5.46, 95% CI: 2.89–10.30, p < 0.001). In sex-stratified analyses, the high-risk cluster was strongly associated with MetS in both men (OR: 9.22, 95% CI: 3.49–24.36, p < 0.001) and women (OR: 3.70, 95% CI: 1.56–8.75, p = 0.003), with notable sex-specific differences in lipid profiles, particularly in HDLc. Conclusion: These findings support the utility of metabotyping using routine biomarkers as a tool for early identification of high-risk individuals and the development of personalized prevention strategies in clinical and public health settings. Full article

► Show Figures

Figure 1

11 pages, 1442 KiB

Open AccessArticle

The Prognostic Value of Amplification of the MYCC and MYCN Oncogenes in Russian Patients with Medulloblastoma

by Alexander Chernov, Ekaterina Batotsyrenova, Sergey Zheregelya, Sarng Pyurveev, Vadim Kashuro, Dmitry Ivanov and Elvira Galimova

Diseases 2025, 13(8), 238; https://doi.org/10.3390/diseases13080238 - 27 Jul 2025

Abstract

Background. Medulloblastoma (MB) prognosis and response to therapy depend largely on genetic changes in tumor cells. Many genes and chromosomal abnormalities have been identified as prognostic factors, including amplification of MYC oncogenes, gains in 1q and 17q, deletions in 10q and 21p, or [...] Read more.

Background. Medulloblastoma (MB) prognosis and response to therapy depend largely on genetic changes in tumor cells. Many genes and chromosomal abnormalities have been identified as prognostic factors, including amplification of MYC oncogenes, gains in 1q and 17q, deletions in 10q and 21p, or isochromosomes 17 (i(17)(q10)). The frequency of these abnormalities varies greatly between ethnic populations, but the frequency of specific abnormalities, such as MYCC and MYCN amplification, 17q gain, and deletions, in the Russian population is unknown. Objective: The aim is to study the frequency of MYCC and MYCN amplifications, 17q gain, and 17p deletion and determine their prognostic value in Russian patients with MB. Methods. This study was performed on MB cells obtained from 18 patients (12 boys and 6 girls, aged between 3 months and 17 years, with a median age of 6.5 years). Determination of cytogenetic aberrations was carried out using FISH assays with MYCC-SO, MYCN-SO, and MYCN-SG/cen2 probes, as well as cen7/p53 dual color probes and PML/RARα dual color probes (Abbott Molecular, USA). One-way ANOVA and Fisher’s F-test were used to compare the two groups. The differences were considered significant when p < 0.05. Results. In 77.7% of patients (14/18), the classical type of MB was present; in 16.7% (3/18), desmoplastic type; and in 5.6% (1/18), nodular desmoplasic types of neoplasms. Amplification of MYC genes was detected in 22.2% of Russian patients (n = 4 out of 18). Patients with MYC amplification had the worst overall survival (OS: 0% vs. 68%, p = 0.0004). Changes on the 17th chromosome were found in 58.3% of patients. Deletion of 17p occurred in 23.1%, and gain of 17q occurred in 46.2%. There were no significant differences in OS, clinical signs, or the presence of additional 17q material or 17p deletion among patients with MB. Conclusions: Amplification of the MYC gene is a predictor of poor overall survival to therapy and a high risk of metastatic relapse. This allows us to more accurately stratify patients into risk groups in order to determine the intensity and duration of therapy. Full article

(This article belongs to the Section Oncology)

► Show Figures

Graphical abstract

13 pages, 543 KiB

Open AccessArticle

Subclinical Hypothyroidism in Moderate-to-Severe Psoriasis: A Cross-Sectional Study of Prevalence and Clinical Implications

by Ricardo Ruiz-Villaverde, Marta Cebolla-Verdugo, Carlos Llamas-Segura, Pedro José Ezomo-Gervilla, Jose Molina-Espinosa and Jose Carlos Ruiz-Carrascosa

Diseases 2025, 13(8), 237; https://doi.org/10.3390/diseases13080237 - 25 Jul 2025

Abstract

Background: Psoriasis is a chronic inflammatory skin disease linked to systemic comorbidities, including metabolic, cardiovascular, and autoimmune disorders. Thyroid dysfunction, particularly hypothyroidism, has been observed in patients with moderate-to-severe psoriasis, suggesting possible shared inflammatory pathways. Objectives: This study aims to explore [...] Read more.

Background: Psoriasis is a chronic inflammatory skin disease linked to systemic comorbidities, including metabolic, cardiovascular, and autoimmune disorders. Thyroid dysfunction, particularly hypothyroidism, has been observed in patients with moderate-to-severe psoriasis, suggesting possible shared inflammatory pathways. Objectives: This study aims to explore the relationship between psoriasis and thyroid dysfunction in adults with moderate-to-severe psoriasis undergoing biologic therapy to determine whether psoriasis predisposes individuals to thyroid disorders and to identify demographic or clinical factors influencing this association. Materials and Methods: A cross-sectional study included adult patients with moderate-to-severe psoriasis receiving biologic therapy, recruited from the Psoriasis Unit at the Dermatology Department of Hospital Universitario San Cecilio in Granada, Spain, from 2017 to 2023. Patients with mild psoriasis or those treated with conventional systemic therapies were excluded. The data collected included demographics and clinical characteristics, such as age, sex, BMI (body mass index), and psoriasis severity (psoriasis severity was evaluated using the Psoriasis Area Severity Index (PASI), body surface area (BSA) involvement, Investigator’s Global Assessment (IGA), pruritus severity using the Numerical Rating Scale (NRS), and impact on quality of life through the Dermatology Life Quality Index (DLQI)). Thyroid dysfunction, including hypothyroidism and subclinical hypothyroidism, was assessed based on records from the Endocrinology Department. Results: Thyroid dysfunction was found in 4.2% of patients, all classified as hypothyroidism, primarily subclinical. The affected patients were generally older, with a mean age of 57.4 years. No significant differences in psoriasis severity (PASI, BSA) or treatment response were observed between patients with and without thyroid dysfunction. Conclusion: Our findings suggest hypothyroidism is the main thyroid dysfunction in psoriatic patients, independent of psoriasis severity. The lack of impact on psoriasis severity suggests hypothyroidism may be an independent comorbidity, warranting further research into shared inflammatory mechanisms. Full article

► Show Figures

Figure 1

14 pages, 1245 KiB

Open AccessArticle

Anthropometric, Nutritional, and Lifestyle Factors Involved in Predicting Food Addiction: An Agnostic Machine Learning Approach

by Alejandro Díaz-Soler, Cristina Reche-García and Juan José Hernández-Morante

Diseases 2025, 13(8), 236; https://doi.org/10.3390/diseases13080236 - 24 Jul 2025

Abstract

Food addiction (FA) is an emerging psychiatric condition that presents behavioral and neurobiological similarities with other addictions, and its early identification is essential to prevent the development of more severe disorders. The aim of the present study was to determine the ability of [...] Read more.

Food addiction (FA) is an emerging psychiatric condition that presents behavioral and neurobiological similarities with other addictions, and its early identification is essential to prevent the development of more severe disorders. The aim of the present study was to determine the ability of anthropometric measures, eating habits, symptoms related to eating disorders (ED), and lifestyle features to predict the symptoms of food addiction. Methodology: A cross-sectional study was conducted in a sample of 702 university students (77.3% women; age: 22 ± 6 years). The Food Frequency Questionnaire (FFQ), the Yale Food Addiction Scale 2.0 (YFAS 2.0), the Eating Attitudes Test (EAT-26), anthropometric measurements, and a set of self-report questions on substance use, physical activity level, and other questions were administered. A total of 6.4% of participants presented symptoms compatible with food addiction, and 8.1% were at risk for ED. Additionally, 26.5% reported daily smoking, 70.6% consumed alcohol, 2.9% used illicit drugs, and 29.4% took medication; 35.3% did not engage in physical activity. Individuals with food addiction had higher BMI (p = 0.010), waist circumference (p = 0.001), and body fat (p < 0.001) values, and a higher risk of eating disorders (p = 0.010) compared to those without this condition. In the multivariate logistic model, non-dairy beverage consumption (such as coffee or alcohol), vitamin D deficiency, and waist circumference predicted food addiction symptoms (R²_Nagelkerke = 0.349). Indeed, the machine learning approaches confirmed the influence of these variables. Conclusions: The prediction models allowed an accurate prediction of FA in the university students; moreover, the individualized approach improved the identification of people with FA, involving complex dimensions of eating behavior, body composition, and potential nutritional deficits not previously studied. Full article

(This article belongs to the Special Issue Body Composition, Energy Expenditure and Lifestyle During Obesity Management)

► Show Figures

Figure 1

13 pages, 2372 KiB

Open AccessArticle

PTEN and ERG Biomarkers as Predictors of Biochemical Recurrence Risk in Patients Undergoing Radical Prostatectomy

by Mihnea Bogdan Borz, Bogdan Fetica, Maximilian Cosma Gliga, Tamas-Csaba Sipos, Bogdan Adrian Buhas and Vlad Horia Schitcu

Diseases 2025, 13(8), 235; https://doi.org/10.3390/diseases13080235 - 24 Jul 2025

Abstract

Background/Objectives: Prostate cancer (PCa) remains a major global health issue, associated with significant mortality and morbidity. Despite advances in diagnosis and treatment, predicting biochemical recurrence (BCR) after radical prostatectomy remains challenging, highlighting the need for reliable biomarkers to guide prognosis and therapy. [...] Read more.

Background/Objectives: Prostate cancer (PCa) remains a major global health issue, associated with significant mortality and morbidity. Despite advances in diagnosis and treatment, predicting biochemical recurrence (BCR) after radical prostatectomy remains challenging, highlighting the need for reliable biomarkers to guide prognosis and therapy. The study aimed to evaluate the prognostic significance of the PTEN and ERG biomarkers in predicting BCR and tumor progression in PCa patients who underwent radical prostatectomy. Methods: This study consisted of a cohort of 91 patients with localized PCa who underwent radical prostatectomy between 2016 and 2022. From this cohort, 77 patients were selected for final analysis. Tissue microarrays (TMAs) were constructed from paraffin blocks, and immunohistochemical (IHC) staining for PTEN and ERG was performed using specific antibodies on the Ventana BenchMark ULTRA system (Roche Diagnostics, Indianapolis, IN, USA). Stained sections were evaluated and correlated with clinical and pathological data. Results: PTEN expression showed a significant negative correlation with BCR (r = −0.301, p = 0.014), indicating that reduced PTEN expression is associated with increased recurrence risk. PTEN was not significantly linked to PSA levels, tumor stage, or lymph node involvement. ERG expression correlated positively with advanced pathological tumor stage (r = 0.315, p = 0.005) but was not associated with BCR or other clinical parameters. Conclusions: PTEN appears to be a valuable prognostic marker for recurrence in PCa, while ERG may indicate tumor progression. These findings support the potential integration of PTEN and ERG into clinical practice to enhance risk stratification and personalized treatment, warranting further validation in larger patient cohorts. Full article

(This article belongs to the Section Oncology)

► Show Figures

Figure 1

Journal Description

Diseases

Latest Articles

Journal Menu

Journal Browser

Highly Accessed Articles

Latest Books

E-Mail Alert

News

Topics

Conferences

Special Issues

Topical Collections

Further Information

Guidelines

MDPI Initiatives

Follow MDPI