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Nutritional Status of Adult People Living with HIV: A Narrative Review
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The Role of Cortisol and Dehydroepiandrosterone in Obesity, Pain, and Aging
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Oxidative Stress in Benign Prostatic Hyperplasia: Mechanisms, Clinical Relevance and Therapeutic Perspectives
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Managing Depressive Symptoms in Breast Cancer
Journal Description
Diseases
Diseases
is an international, peer-reviewed, open access, multidisciplinary journal which focuses on the latest and outstanding research on diseases and conditions published monthly online by MDPI. The first issue is released in 2013.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, ESCI (Web of Science), PubMed, PMC, CAPlus / SciFinder, and other databases.
- Journal Rank: JCR - Q2 (Medicine, Research and Experimental)
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 22.7 days after submission; acceptance to publication is undertaken in 2.5 days (median values for papers published in this journal in the first half of 2025).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
- Sections: published in 8 topical sections.
Impact Factor:
3.0 (2024);
5-Year Impact Factor:
3.4 (2024)
Latest Articles
Descriptive Analysis of Reported Adverse Events Associated with Vitiligo Medications Using FDA Adverse Event Reporting System (FAERS) Databases 2013–2023
Diseases 2025, 13(7), 208; https://doi.org/10.3390/diseases13070208 - 2 Jul 2025
Abstract
Vitiligo, an autoimmune disorder causing depigmented skin patches, includes two types, segmental (SV) and non-segmental (NSV). Previously, NSV was off-label treated using Calcineurine inhibitors (Tacrolimus and Pimecrolimus). In 2022, the FDA approved Ruxolitinib cream, targeting the JAK/STAT pathway for NSV treatment based on
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Vitiligo, an autoimmune disorder causing depigmented skin patches, includes two types, segmental (SV) and non-segmental (NSV). Previously, NSV was off-label treated using Calcineurine inhibitors (Tacrolimus and Pimecrolimus). In 2022, the FDA approved Ruxolitinib cream, targeting the JAK/STAT pathway for NSV treatment based on promising results. This research conducts a retrospective descriptive safety assessment of Tacrolimus, Pimecrolimus, and Ruxolitinib safety in vitiligo treatment, utilizing the FDA Adverse Event Reporting System (FAERS) database spanning the period from 2013 to 2023 and including patients aged 2 years and above, encompassing both brand and generic names. A total of 844 adverse event reports involving 388 patients were extracted and categorized into dermatological and systemic groups for analysis. Tacrolimus resulted in 12 hospitalizations, two life-threatening events, and four disabilities. Pimecrolimus exhibited urticaria and pigmentation disorders, with tooth fracture as the primary systemic event. Pericarditis was the predominant systemic side effect of Ruxolitinib, followed by anemia, headache, and urosepsis. Local dermatological side effects reported were generally mild, not warranting treatment cessation. In conclusion, vitiligo significantly impacts patients’ psychological well-being, necessitating continuous post-marketing safety monitoring for topical medications.
Full article
Open AccessReview
Hepatocellular Carcinoma: A Comprehensive Review
by
Nisar Amin, Javaria Anwar, Abdullahi Sulaiman, Nadia Nikolaeva Naumova and Nadeem Anwar
Diseases 2025, 13(7), 207; https://doi.org/10.3390/diseases13070207 - 2 Jul 2025
Abstract
Hepatocellular carcinoma (HCC) is the sixth most common malignancy globally and remains one of the leading causes of cancer-related mortality. Its incidence continues to rise worldwide, and it is currently the fastest-growing cancer by incidence in the United States. HCC most often arises
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Hepatocellular carcinoma (HCC) is the sixth most common malignancy globally and remains one of the leading causes of cancer-related mortality. Its incidence continues to rise worldwide, and it is currently the fastest-growing cancer by incidence in the United States. HCC most often arises in the context of chronic liver disease, particularly cirrhosis. While chronic viral hepatitis (hepatitis B and C) has traditionally been the primary etiologic factor, recent advances in antiviral therapies and prevention strategies have shifted the epidemiological landscape. Metabolic dysfunction-associated steatotic liver disease (MASLD) and alcohol-related liver disease are increasingly prominent risk factors, especially in Western populations. This shift underscores the need for targeted risk factor modification, improved early detection, and enhanced surveillance protocols. The management of HCC necessitates a multidisciplinary approach, incorporating locoregional therapies, surgical resection, liver transplantation, and systemic therapies for advanced-stage disease. Recent advances in systemic treatments, including immune checkpoint inhibitors and combination therapies, have transformed the therapeutic landscape. Despite these developments, significant challenges persist in optimizing treatment, identifying predictive biomarkers, and personalizing therapy. Ongoing research is focused on refining molecular classifications and advancing precision medicine strategies to improve outcomes. This review provides a comprehensive overview of the etiology, surveillance strategies, diagnostic approaches, molecular features, and current treatment modalities for HCC.
Full article
(This article belongs to the Special Issue Viral Hepatitis: Diagnosis, Treatment and Management)
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Open AccessArticle
CD79A and IL7R mRNA Levels in the Cerebrospinal Fluid of Adults with Acute B-Cell Lymphoblastic Leukemia: A Pilot Study
by
Andrea Iracema Milán Salvatierra, Juan Carlos Bravata Alcántara, Víctor Manuel Alvarado Castro, Estibeyesbo Said Plascencia Nieto, Faustino Cruz Leyto, Mónica Tejeda Romero, Jorge Cruz Rico, Bogar Pineda Terreros, Sandra López Palafox, Adriana Jiménez, Juan Ramón Padilla Mendoza, José Bonilla Delgado, Catalina Flores-Maldonado and Enoc Mariano Cortés Malagón
Diseases 2025, 13(7), 206; https://doi.org/10.3390/diseases13070206 - 1 Jul 2025
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Background/Objectives: In adults with B-cell acute lymphoblastic leukemia (B-ALL), central nervous system (CNS) involvement represents a significant clinical challenge due to its association with adverse outcomes. Infiltration of blast cells into the CNS is primarily detected via cerebrospinal fluid (CSF) microscopy, the current
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Background/Objectives: In adults with B-cell acute lymphoblastic leukemia (B-ALL), central nervous system (CNS) involvement represents a significant clinical challenge due to its association with adverse outcomes. Infiltration of blast cells into the CNS is primarily detected via cerebrospinal fluid (CSF) microscopy, the current gold standard diagnostic method, although it has limitations in terms of sensitivity. Quantitative polymerase chain reaction (qPCR) offers higher sensitivity and can support the diagnosis of CNS infiltration. This study assessed the mRNA expression levels of CD79A and IL7R in CSF to evaluate their potential for detecting CNS involvement in adults with B-ALL. Methods: CSF samples were collected from adults with B-ALL. The classification criteria for CNS Leukemia (CNS status) were used to evaluate CNS involvement. RNA was extracted from the CSF, and quantitative reverse transcription PCR (RT-qPCR) was used to measure the CD79A and IL7R mRNA expression levels. Results: A total of 19 treatment-naïve adult patients with B-ALL were enrolled over a 19-month period. Four (21%) patients had CNS3 status. Four (21%) patients had CNS3 status. The results also showed that the expression levels of CD79A and IL7R mRNA were significantly higher (median fold change = 0.62 and 2.12, p < 0.05, respectively) in the group with CNS3. Furthermore, using the Haldane-Anscombe correction and Fisher’s exact test, we demonstrated an association between IL7R and CNS3 expression (odds ratio = ∞, due to zero CNS+ in the IL7R group, p < 0.05). Conclusions: CD79A and IL7R mRNA levels in CSF could be potential biomarkers for detecting CNS involvement in adult patients with B-ALL.
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Open AccessArticle
Salmonella Typhi-Exposed Placentae: Chorionic Villi Histomorphology and Neonatal Birthweight
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Patience B. Tetteh-Quarcoo, Joana Twasam, Kevin Kofi Adutwum-Ofosu, John Ahenkorah, Bismarck Afedo Hottor, Nicholas T. K. D. Dayie, Peter Ofori Appiah, Emmanuel Afutu, Fleischer C. N. Kotey, Emilia Asuquo Udofia, Nii Koney-Kwaku Koney, Benjamin Arko-Boham and Eric S. Donkor
Diseases 2025, 13(7), 205; https://doi.org/10.3390/diseases13070205 - 30 Jun 2025
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Background: Salmonella infections impose a substantial global health burden, with an estimated 95.1 million cases occurring annually. Pregnant women exhibit a heightened vulnerability due to pregnancy-specific immune adaptations and dietary habits that increase their risk of Salmonella exposure, facilitating possible damage to the
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Background: Salmonella infections impose a substantial global health burden, with an estimated 95.1 million cases occurring annually. Pregnant women exhibit a heightened vulnerability due to pregnancy-specific immune adaptations and dietary habits that increase their risk of Salmonella exposure, facilitating possible damage to the placental barrier. Despite this significant burden, Salmonella-associated placental pathology remains poorly understood, particularly its impact on foetal development through microstructural alterations. Aim: This study utilised stereology to assess histomorphological and functional alterations in term placentae of Salmonella Typhi-exposed placentae, compared to unexposed controls. Methods: A hospital-based case-control study was conducted in Ghana. Of 237 screened women, 62 placentae were selected for analysis, comprising 31 Salmonella-exposed cases (IgG/IgM-positive in placental and cord blood) and 31 gestational age-matched controls (IgG/IgM-negative). Placental tissues were processed for histology and stereology. Neonatal birthweights were also compared. Results: Stereological assessment revealed significantly higher mean volume densities of syncytial knots in the study group (0.4755 ± 0.04) compared to the controls (0.3342 ± 0.04, p = 0.0219). Syncytial denudation was increased in the study group (0.8113 ± 0.09) relative to the controls (0.1975 ± 0.08, p < 0.0001). Foetal capillary volume density was also significantly elevated in the study group (5.1010 ± 0.32) compared to the controls (3.562 ± 0.47, p < 0.0001). In contrast, intervillous space volume was significantly reduced in the study group (9.5810 ± 0.05) compared to the controls (11.593 ± 0.26, p = 0.0053). Neonates of exposed mothers showed a non-significant reduction in birthweight. Conclusion: Salmonella Typhi exposure in pregnancy induces subtle, yet significant alterations in placental architecture, compromising villous integrity and vascular organisation. Although birthweight may appear unaffected, the observed changes point to reduced placental efficiency and merit further research into their developmental consequences and long-term effects on babies.
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Open AccessHypothesis
Vaxtherapy, a Multiphase Therapeutic Protocol Approach for Longvax, the COVID-19 Vaccine-Induced Disease: Spike Persistence as the Core Culprit and Its Downstream Effects
by
Jose Crespo-Barrios
Diseases 2025, 13(7), 204; https://doi.org/10.3390/diseases13070204 - 30 Jun 2025
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Background/Objectives: Chronic illness after COVID-19 vaccination (longvax) lacks a therapeutic protocol anchored in pathophysiology. Persistent vaccine derived spike protein appears to trigger microvascular fibrin amyloid microclots, immune dysfunction, pathogen reactivation and multisystem injury. This article proposes an integrative approach, Vaxtherapy, to tackle these
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Background/Objectives: Chronic illness after COVID-19 vaccination (longvax) lacks a therapeutic protocol anchored in pathophysiology. Persistent vaccine derived spike protein appears to trigger microvascular fibrin amyloid microclots, immune dysfunction, pathogen reactivation and multisystem injury. This article proposes an integrative approach, Vaxtherapy, to tackle these mechanisms. Methods: A narrative synthesis of peer reviewed literature from 2021 to 2025 on spike related injury and vaccine adverse events was conducted, supplemented by clinical case series and mechanistic observations from long COVID. The findings were arranged into a four stage therapeutic sequence ordered by pathophysiological precedence. Results: Stage one aims to reopen hypoperfused tissue through oral fibrinolytics that degrade fibrin amyloid resistant microclots; stage two intends to neutralise circulating or tissue bound spike via a receptor binding domain monoclonal antibody cocktail; stage three seeks to eliminate reactivated viral or microbial reservoirs with targeted antivirals or antimicrobials once perfusion is improved; and stage four aspires to support tissue repair with mitochondrial supplements and, when indicated, cell based therapies. Omitting or reordering stages may reduce efficacy or foster resistance. Conclusions: This hypothesis driven framework outlines a biologically plausible roadmap for longvax research. By matching interventions to specific mechanisms (fibrinolysis, spike neutralisation, pathogen clearance and regeneration), it aims to guide controlled trials and compassionate pilot programs directed at durable recovery rather than chronic symptom management.
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Open AccessCase Report
Pancreatic Endometriosis Coexisting with a Splenic Mesothelial Cyst: A Rare Case Report and Review of the Literature
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Daniel Paramythiotis, Antonia Syrnioti, Dimitrios Tsavdaris, Aikaterini Smprini, Alexandros Mekras, Athanasios Apostolidis and Angeliki Cheva
Diseases 2025, 13(7), 203; https://doi.org/10.3390/diseases13070203 - 30 Jun 2025
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Endometriosis is a clinical entity affecting up to 10% of women of reproductive age, characterized by ectopic endometrial tissue outside the uterine cavity. While extrapelvic endometriosis has been documented, pancreatic endometriosis remains extremely rare and poses significant diagnostic challenges due to its similarity
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Endometriosis is a clinical entity affecting up to 10% of women of reproductive age, characterized by ectopic endometrial tissue outside the uterine cavity. While extrapelvic endometriosis has been documented, pancreatic endometriosis remains extremely rare and poses significant diagnostic challenges due to its similarity to other pancreatic diseases. At the same time, splenic mesothelial cysts are also rare and typically benign. This report presents a unique case of pancreatic endometriosis coexisting with a splenic mesothelial cyst in a 31-year-old woman. The patient presented to the emergency department with complaints of persistent epigastric and low back pain. She noted having similar symptoms approximately a year prior. Her past medical history was otherwise unremarkable, and there was no known family history of pancreatic disease or neoplasms. Initial imaging revealed a 3.8 cm cystic lesion in the pancreatic tail, with features suggestive of mucinous cystadenoma. Following clinical evaluation and confirmation of the cyst’s nature through endoscopic ultrasound-guided biopsy, the patient subsequently underwent laparoscopic distal pancreatectomy and splenectomy due to worsening symptoms. Gross examination revealed a multilocular pancreatic cyst with a smooth, hemorrhagic wall. Microscopic analysis showed the cyst to be lined by cuboidal to columnar epithelium, consistent with pancreatic endometriosis, confirmed by immunohistochemical staining. The spleen showed cystic formations, diagnosed as a multifaceted mesothelial cyst. In conclusion, this report is the first to document the coexistence of pancreatic endometriosis and splenic mesothelial cysts, highlighting the importance of accurate imaging and pathologic evaluation in the diagnosis of these rare conditions. Early diagnosis and surgical intervention lead to favorable outcomes, reinforcing the importance of comprehensive diagnostic strategies.
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Open AccessArticle
Microsatellite Instability and BAT-26 Marker Expression in a Mexican Prostate Cancer Population with Different Gleason Scores
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Ana K. Flores-Islas, Manuel A. Rico-Méndez, Marisol Godínez-Rubí, Martha Arisbeth Villanueva-Pérez, Erick Sierra-Díaz, Ana Laura Pereira-Suárez, Saul A. Beltrán-Ontiveros, Perla Y. Gutiérrez-Arzapalo, José M. Moreno-Ortiz and Adrián Ramírez-de-Arellano
Diseases 2025, 13(7), 202; https://doi.org/10.3390/diseases13070202 - 30 Jun 2025
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Background/Objectives: Prostate cancer (PCa) is one of the most common cancers in men worldwide. While standard treatments often provide good initial results, many patients eventually develop resistance and experience a more aggressive relapse. Microsatellite instability (MSI) involves variations in the lengths of microsatellite
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Background/Objectives: Prostate cancer (PCa) is one of the most common cancers in men worldwide. While standard treatments often provide good initial results, many patients eventually develop resistance and experience a more aggressive relapse. Microsatellite instability (MSI) involves variations in the lengths of microsatellite base repeats in cells. Assessing the frequency of MSI is essential, as it may identify candidates for immune checkpoint inhibitors, which have shown promising outcomes. This study focuses on evaluating the MSI frequency in Mexican PCa patients and exploring its potential relationship with tumor aggressiveness. Methods: In this study, 116 formalin-fixed paraffin-embedded tumoral tissue biopsies from Mexican patients with PCa were collected from Hospital Civil de Culiacán and Pathology and Nephropathology, Diagnosis and Research Center, in the period from 2021 to 2024. The Gleason score was assessed, and the MSI was performed by multiplex PCR with a panel of five markers (NR-27, NR-21, NR-24, BAT-25, and BAT-26). High microsatellite instability (MSI-H) was defined as two or more unstable markers, low microsatellite instability (MSI-L) as an unstable marker, and microsatellite stability (MSS) as no unstable marker. Results: We found 19.83% (23/116) MSI PCa patients, of which 21.74% (5/23) were MSI-H, and 78.26% (18/23) were MSI-L. We found a major distribution of MSI-positive cases (50% (11/22)) in Gleason score 9 patients, corresponding to prognostic group 5. In addition, we found most of the instability in the BAT-26 marker in MSI PCa patients (60.87% (14/23)). Conclusions: This study is the first to evaluate the frequency of MSI in PCa within the Mexican population. Among the Mexican patients with MSI-positive PCa, there was a predominant Gleason score 9 and a majority instability of the BAT-26 marker.
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Open AccessCase Report
Subcutaneous Panniculitis-like T-Cell Lymphoma: Diagnostic Challenge and Successful Multimodal Management with Integra® Dermal Matrix—Case Report and Review of the Literature
by
Daniel Pit, Teodora Hoinoiu, Bogdan Hoinoiu, Simona Cerbu, Maria Iordache, Adrian Vaduva, Diana Szilagyi, Claudia Ramona Bardan, Panche Taskov, Zorin Petrisor Crainiceanu, Miruna Samfireag and Razvan Bardan
Diseases 2025, 13(7), 201; https://doi.org/10.3390/diseases13070201 - 30 Jun 2025
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Background/Objectives: Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare and aggressive cutaneous lymphoma, often misdiagnosed due to nonspecific clinical features. Early diagnosis and treatment remain challenging. Methods: We report the case of a 31-year-old female with a chronic non-healing gluteal wound initially treated
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Background/Objectives: Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare and aggressive cutaneous lymphoma, often misdiagnosed due to nonspecific clinical features. Early diagnosis and treatment remain challenging. Methods: We report the case of a 31-year-old female with a chronic non-healing gluteal wound initially treated as an abscess. The lack of improvement prompted repeated investigations, culminating in the diagnosis of SPTCL with an alpha–beta T-cell phenotype. Results: Management involved combined chemotherapy and surgical wound reconstruction. Six cycles of CHOEP-21 chemotherapy led to complete clinical remission. A soft tissue defect superinfected with multidrug-resistant organisms was successfully reconstructed using Integra Dermal Regeneration Template followed by split-thickness skin grafting. Conclusions: This case highlights the diagnostic complexity of SPTCL and the therapeutic potential of dermal matrix application in complex wound management, especially in immuno-compromised patients.
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Open AccessArticle
Hypovitaminosis D Does Not Aggravate the Progression of Gentamicin-Induced Kidney Injury in Rats
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Ana Lívia D. Maciel, Amanda L. Deluque, Beatriz M. Oliveira, Cláudia S. Souza, Heloísa D. C. Francescato, Cleonice Giovanini, Francisco J. A. de Paula, Terezila M. Coimbra and Rildo A. Volpini
Diseases 2025, 13(7), 200; https://doi.org/10.3390/diseases13070200 - 28 Jun 2025
Abstract
Background/Objectives: Gentamicin is one of the most effective and widely used antibiotics to treat serious infections. In addition to its bactericidal properties, gentamicin has a nephrotoxic effect that results in acute kidney injury (AKI). AKI may be intensified by hypovitaminosis D. This
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Background/Objectives: Gentamicin is one of the most effective and widely used antibiotics to treat serious infections. In addition to its bactericidal properties, gentamicin has a nephrotoxic effect that results in acute kidney injury (AKI). AKI may be intensified by hypovitaminosis D. This study evaluated the effect of hypovitaminosis D in the progression of gentamicin-induced renal injury. Methods: Male Wistar Hannover rats received a standard (SD) or a vitamin D-free diet (VitD—) before gentamicin treatment. After that, we divided the animals into four groups: Ctrl VitD, SD diet, and saline injection; Ctrl VitD—, VitD— diet, and saline injection; Genta VitD, SD diet, and gentamicin injection (40 mg/kg; IM); Genta VitD—, VitD— diet, and gentamicin injection (40 mg/kg; IM). After the end of gentamicin treatment, we followed the animals for 5 days (protocol 1) and 30 days (protocol 2). Results: The Genta VitD group (protocol 1) presented impaired renal function. Regarding morphological analyses, the Genta VitD group presented necrotic tubules (protocol 1) and atrophied tubules (protocol 2). In the inflammatory scenario, the Genta VitD group presented an increase in the number of CD68+ cells, as well as in the levels of interleukin 1β (protocols 1 and 2). In addition, gentamicin-treated animals (protocols 1 and 2) presented an increased renal expression of vimentin and fibronectin. Despite the notable changes in functional, inflammatory, and structural parameters induced by gentamicin, hypovitaminosis D did not aggravate the renal injury in this experimental model. Conclusion: Hypovitaminosis D did not aggravate the progression of gentamicin-induced renal injury in rats.
Full article
Open AccessArticle
Self-Efficacy in Breast Cancer Patients: A Pre–Post Study of a Brief Digital Psychosocial Intervention
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Dimitrios Charos, Maria Andriopoulou, Giannoula Kyrkou, Anna Deltsidou, Glykeria Vaina and Victoria Vivilaki
Diseases 2025, 13(7), 199; https://doi.org/10.3390/diseases13070199 - 28 Jun 2025
Abstract
Background: Breast cancer significantly impacts the social relationships and self-efficacy of affected patients. Purpose: To investigate the role of self-efficacy and the ability to maintain social relationships in breast cancer patients during the postoperative period. Method: This study is a brief intervention study
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Background: Breast cancer significantly impacts the social relationships and self-efficacy of affected patients. Purpose: To investigate the role of self-efficacy and the ability to maintain social relationships in breast cancer patients during the postoperative period. Method: This study is a brief intervention study in the same population group (within-subjects intervention study), in two measurements (pre-test and post-test), conducted in 58 breast cancer patients hospitalized in oncology hospitals in Athens (February 2021–November 2021). The following validated scales were used: the Social Relationship Coping Efficacy Scale (SRCE), the Family Support Scale (FS-12), and the Family Problem Solving Communication Scale (FPSC). Results: The mean age of the participants was 52 years. No statistically significant differences were observed in the scales after the intervention. The degree of change in the scales had minimal differences across all types of treatment. However, there was a statistically significant correlation between the change in the SRCE and the FPSC (p = 0.043), which suggests that the improvement in the ability to maintain social relationships is related to the strengthening of family communication. Conclusions: The intervention had a positive effect on maintaining social relationships and improving communication for problemsolving ability, although the overall changes in the scales were not statistically significant.
Full article
Open AccessArticle
Dramatic Deterioration of Subclinical Hyperparathyroidism in Children and Adolescents During the Post-COVID-19 Period
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Maria Loutsou, Eleni Dermitzaki, Rodis D. Paparodis, Aspasia N. Michoula, Nicholas Angelopoulos, Panagiotis Christopoulos, Stavros Diamantopoulos, George Mastorakos, Ioanna N. Grivea and Dimitrios T. Papadimitriou
Diseases 2025, 13(7), 198; https://doi.org/10.3390/diseases13070198 - 27 Jun 2025
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Background: Vitamin D is a steroid hormone, essential for the immune system and bone health. Since the sun is meant to provide at least 80% of daily vitamin D requirements, the COVID-19 pandemic is likely to have induced a considerable influence on calcium
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Background: Vitamin D is a steroid hormone, essential for the immune system and bone health. Since the sun is meant to provide at least 80% of daily vitamin D requirements, the COVID-19 pandemic is likely to have induced a considerable influence on calcium metabolism. Methods: We analyzed data from 1138 children, seen in an outpatient pediatric endocrinology clinic from 2022–2023. Vitamin D status was classified as deficiency if 25(OH)D ≤ 20 ng/mL, insufficiency < 30 ng/mL, and sufficiency ≥ 30 ng/mL. Results: Overall, 60.8% of children had vitamin D deficiency or insufficiency worsened with age (p < 0.005), and with adolescent males having higher 25(OH)D concentrations than females (p < 0.05). A negative correlation was found between 25(OH)D and BMI SDS (R2 = 0.02, p < 0.001), and 25(OH)D concentrations varied seasonally, decreasing in winter. Subclinical hyperparathyroidism [parathyroid hormone (PTH) > 45 pg/mL) and normal calcium] was found in 21.5% of children, with 73.5% of them being vitamin D deficient or insufficient. A negative correlation between PTH and 25(OH)D was observed, with PTH plateauing at 25(OH)D above 40 ng/mL (p < 0.001). Conclusions: Compared to the pre-pandemic data (2016–2018), with only 5.1% of children having subclinical hyperparathyroidism (p < 0.001), these findings suggest a marked deterioration in vitamin D status and calcium metabolism in children, with possible unforeseen consequences for bone, immune, and general health.
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Open AccessReview
Revisiting Fat Content in Bone Lesions: Paradigms in Bone Lesion Detection
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Ali Shah, Neel R. Raja, Hasaam Uldin, Sonal Saran and Rajesh Botchu
Diseases 2025, 13(7), 197; https://doi.org/10.3390/diseases13070197 - 27 Jun 2025
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Bone lesions encountered as part of radiology practice can bring diagnostic challenges, both when encountered incidentally or suspected as a primary bone lesion, and in patients at risk of metastases or marrow-based malignancies. Differentiating benign from malignant bone marrow lesions is critical, yet
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Bone lesions encountered as part of radiology practice can bring diagnostic challenges, both when encountered incidentally or suspected as a primary bone lesion, and in patients at risk of metastases or marrow-based malignancies. Differentiating benign from malignant bone marrow lesions is critical, yet can be challenging due to overlapping imaging characteristics. One key imaging feature that can assist with diagnosis is the presence of fat within the lesion. Fat can be present either macroscopically (i.e., visible on radiographs, computed tomography (CT), and conventional magnetic resonance imaging (MRI)), or microscopically, detected through specialised MRI techniques such as chemical shift imaging (CSI). This comprehensive review explores the diagnostic significance of both macroscopic and microscopic fat in bone lesions and discusses how its presence can point towards benignity. We illustrate the spectrum of fat-containing bone lesions, encompassing both typical and atypical presentations, and provide practical imaging strategies to increase diagnostic accuracy by utilising radiographs, CT, and MRI in characterising these lesions. Specifically, CSI is highlighted as a non-invasive method for evaluating intralesional fat content, to distinguish benign marrow entities from malignant marrow-replacing conditions based on quantifiable signal drop-off. Furthermore, we detail imaging pitfalls with a focus on conditions that can mimic malignancy (such as aggressive haemangiomas) and collision lesions. Through a detailed discussion and illustrative examples, we aim to guide radiologists and clinicians in recognising reassuring imaging features while also identifying scenarios where further investigation may be warranted.
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Open AccessArticle
Lipoprotein(a) and Blood Monocytes as Factors for Progression of Carotid Atherosclerosis in Patients with Premature Coronary Heart Disease
by
Alexandra V. Tyurina, Olga I. Afanasieva, Marat V. Ezhov, Elena A. Klesareva, Tatiana V. Balakhonova and Sergei N. Pokrovsky
Diseases 2025, 13(7), 196; https://doi.org/10.3390/diseases13070196 - 26 Jun 2025
Abstract
Background. Elevated lipoprotein(a) [Lp(a)] levels are a key factor in the early formation and progression of atherosclerosis. Monocytes in individuals with an elevated Lp(a) level are represented by an activated inflammatory phenotype and have an increased ability for transendothelial migration. This work studies
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Background. Elevated lipoprotein(a) [Lp(a)] levels are a key factor in the early formation and progression of atherosclerosis. Monocytes in individuals with an elevated Lp(a) level are represented by an activated inflammatory phenotype and have an increased ability for transendothelial migration. This work studies the association between Lp(a), monocytes, and the progression of carotid atherosclerosis in patients with premature coronary heart disease (CHD). Methods. This study included 102 patients with CHD manifested before 55 in men and 60 in women who underwent two carotid duplex scans with an interval of 5 [3; 8] years. The criteria for the progression of carotid atherosclerosis were the appearance of new plaque and an increase in stenosis by >10% in any of the six segments. The lipid profile, Lp(a), and hematology with the calculation of the lymphocyte–monocyte ratio (LMR) were determined in all the patients. Results. The median blood monocyte count was 0.54 × 109/L, and the median LMR was 4.18. In 70 patients, we revealed the criteria for carotid atherosclerosis progression. The groups did not differ by demographics, risk factors, or the blood lipid and lipoprotein levels, except for Lp(a); this concentration was higher in the patients with carotid atherosclerosis progression. The odds of atherosclerosis progression were highest in the patients with an elevated Lp(a) level and a blood monocyte count above the median (16.8, 3.4–83.0, p < 0.001). Carotid atherosclerosis progression was associated with LMR < 4.18 and an elevated Lp(a) level (OR = 4.3, 1.1–17.2, p = 0.04) and not associated with the patients with Lp(a) levels < 30 mg/dL and an LMR above the median. Conclusions. An elevated Lp(a) level and monocyte count provide the highest probability of the progression of carotid atherosclerosis in patients with premature CHD.
Full article
(This article belongs to the Section Cardiology)
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Open AccessReview
Hematopoietic Stem Cell Transplant in Adult Patients with Fanconi Anemia: A Review
by
Bradley Rockwell, Prakriti Ramamurthy, Jhannine Alyssa Verceles, Amanda Lombardo, Amit Verma and Dennis L. Cooper
Diseases 2025, 13(7), 195; https://doi.org/10.3390/diseases13070195 - 25 Jun 2025
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Fanconi anemia (FA) is characterized by faulty DNA repair and is associated with bone marrow failure, acute myeloid leukemia (AML), and myelodysplastic syndrome (MDS). Because of the more widespread use of next-generation sequencing (NGS) and increased testing for germline mutations in young patients
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Fanconi anemia (FA) is characterized by faulty DNA repair and is associated with bone marrow failure, acute myeloid leukemia (AML), and myelodysplastic syndrome (MDS). Because of the more widespread use of next-generation sequencing (NGS) and increased testing for germline mutations in young patients with MDS and AML, FA is increasingly being first diagnosed in adults, many of whom lack classical physical stigmata. Hematopoietic stem cell transplant is the only cure for the hematologic manifestations of FA but there are several unique considerations in FA patients, including first maintaining a high index of suspicion for the diagnosis in patients with minimal phenotypic abnormalities, second an exaggerated sensitivity to alkylating agents and radiation, precluding the use of standard myeloablative conditioning regimens despite the young age of most of the patients, and lastly a marked propensity for squamous cell cancers of the upper aerodigestive tract and anogenital region, likely further increased by the drugs used in conditioning and by chronic inflammation in patients who develop graft-versus-host disease. Despite a growing number of FA patients surviving into adulthood or first being diagnosed with FA as an adult, there is minimal literature describing transplant methodology and outcomes. In the following case-based review of a patient, we incorporate recent findings from the literature on the care of this challenging patient population.
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Open AccessCase Report
First Report from Colombia of a Urinary Tract Infection Caused by Kluyvera ascorbata Exhibiting an AmpC Resistance Pattern: A Case Report
by
Esteban Artunduaga-Cañas, Sinthia Vidal-Cañas, Valentina Pérez-Garay, Johnny Valencia-Ibarguen, Diego Fernando Lopez-Muñoz and Yamil Liscano
Diseases 2025, 13(7), 194; https://doi.org/10.3390/diseases13070194 - 25 Jun 2025
Abstract
Background: Urinary tract infections represent a significant healthcare burden, particularly among vulnerable patients with chronic comorbidities. In this case report, we describe a UTI caused by Kluyvera ascorbata exhibiting an AmpC resistance pattern in an 85-year-old male with stage IV chronic kidney
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Background: Urinary tract infections represent a significant healthcare burden, particularly among vulnerable patients with chronic comorbidities. In this case report, we describe a UTI caused by Kluyvera ascorbata exhibiting an AmpC resistance pattern in an 85-year-old male with stage IV chronic kidney disease and a history of ESBL-positive infection. Methods: A comprehensive diagnostic workup was performed, including clinical evaluation, laboratory tests (urinalysis, complete blood count, renal function tests), and microbiological cultures with antibiogram analysis using the MicroScan WalkAway (Beckman Coulter, Brea, United States) and VITEK2 Compact systems (bioMérieux, Marcy L’Étoile or Craponne, France). Results: The initial urine culture revealed a Gram-negative bacillus and subsequent identification confirmed K. ascorbata, which demonstrated resistance to ampicillin and cefazolin while remaining susceptible to meropenem. The patient received intravenous meropenem therapy for 10 days, resulting in clinical improvement and a subsequent negative urine culture. Conclusions: This case reports a complicated urinary tract infection caused by K. ascorbata with an AmpC resistance pattern, highlighting the importance of considering this infrequently reported pathogen and its resistance profile in vulnerable patients. Its multidrug-resistant profile underscores the necessity for vigilant antimicrobial stewardship and further research to develop standardized treatment protocols for managing infections caused by this organism.
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(This article belongs to the Section Infectious Disease)
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Open AccessArticle
Age-Onset-Related Particularities of Pediatric MS—Understanding the Spectrum: A Tertiary Center Experience
by
Alice Denisa Dică, Dana Craiu, Florentina Ionela Linca, Magdalena Budișteanu, Catrinel Iliescu, Carmen Sandu, Cristina Pomeran, Diana Bârcă, Niculina Butoianu, Carmen Burloiu, Ioana Minciu, Ina Ofelia Focșa, Dana Surlică, Oana Tarța-Arsene, Cristina Cazacu, Andreea Badea, Alexandru Stefan Niculae and Daniela Adriana Ion
Diseases 2025, 13(7), 193; https://doi.org/10.3390/diseases13070193 - 25 Jun 2025
Abstract
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Background: Pediatric-onset multiple sclerosis (POMS) is a rare and heterogeneous condition, with clinical features, progression, and therapeutic response varying significantly according to age at onset. Early-onset MS (<10 years) presents particular diagnostic and management challenges due to atypical presentations and more active inflammatory
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Background: Pediatric-onset multiple sclerosis (POMS) is a rare and heterogeneous condition, with clinical features, progression, and therapeutic response varying significantly according to age at onset. Early-onset MS (<10 years) presents particular diagnostic and management challenges due to atypical presentations and more active inflammatory profiles. Objectives: To identify age-related clinical, radiological, and therapeutic characteristics of pediatric MS, with a specific focus on early-onset cases, and to compare them with intermediate (10–12 years) and late-onset (>12 years) forms. Methods: We conducted a retrospective analysis of medical records from 120 pediatric patients diagnosed with MS at a tertiary neurology center between 2018 and 2024. Patients were grouped by age at onset and assessed for clinical presentation, number and timing of relapses, EDSS scores, imaging findings, and treatment patterns. Results: Early-onset MS was associated with atypical symptoms, delayed diagnosis, more frequent relapses, and multifocal brainstem and cerebellar involvement. The diagnosis was significantly delayed in younger children compared to adolescents. EDSS scores tended to remain stable in the first 2–3 years, but early-onset patients showed a notable decline after the fourth year. While most patients received disease-modifying therapies, high-efficacy agents were underused due to age-related restrictions. Intermediate-onset patients presented overlapping features of both early and late-onset MS and had the highest proportion of fully preserved motor function (EDSS 0) at the end of follow-up. MRI findings revealed more extensive and confluent lesions in younger patients, particularly in the first two years after onset. Conclusions: Age at disease onset is a key determinant of clinical course and treatment response in pediatric MS. Early recognition and timely initiation of appropriate therapy—especially high-efficacy agents—may improve outcomes and reduce long-term disability. Further multicenter studies with standardized imaging and cognitive assessment protocols are needed to optimize care for this vulnerable population.
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Open AccessCase Report
Newborn with Hypoglossia and Micrognathia with Situs Inversus Totalis Born to Mothers with SARS-CoV-2 Infection: A Case Report
by
Gordana M. Velisavljev-Filipovic and Ognjen Jovanov
Diseases 2025, 13(7), 192; https://doi.org/10.3390/diseases13070192 - 24 Jun 2025
Abstract
Hypoglossia and micrognathia are rare congenital malformations. They are most likely to occur after disruption of blastogenesis during embryonic development and formation of the first pharyngeal arch. They may be associated with other malformations such as otocephaly or hypogenesis syndrome of the oromandibular
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Hypoglossia and micrognathia are rare congenital malformations. They are most likely to occur after disruption of blastogenesis during embryonic development and formation of the first pharyngeal arch. They may be associated with other malformations such as otocephaly or hypogenesis syndrome of the oromandibular limb. We present the case of a female infant with hypoglossia, micrognathia, and situs inversus as a very rare triadic combination. This clinical presentation does not correspond to the description of existing syndromes. In the available literature, we were able to find only a small number of described cases that are somewhat similar to ours. The etiology of hypoglossia with micrognathia and situs inversus is unknown and has been attributed to both genetic and teratogenic causes. It is also unclear whether the combination of these three malformations can be classified as its own syndrome or not. Here, we present a child born from a pregnancy exposed to the SARS-CoV-2 virus in the first weeks of embryonic development, whose whole genome sequencing confirmed normality, as a contribution to elucidating the etiology of these congenital malformations. The possible influence of the SARS-CoV-2 virus on the occurrence of these anomalies and the exact mechanism of action should be confirmed in subsequent research.
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(This article belongs to the Section Rare Syndrome)
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Open AccessArticle
Sex Differences in Newly Diagnosed Severe Aortic Stenosis in British Columbia (B.C.)
by
Aishwarya Roshan, Jeffrey Yim, Shamikh Lakhani, Jennifer Wang, Aamiya Sidhu, Eric C. Sayre, Karin Humphries, Janarthanan Sathananthan, David Wood, Michael Y. C. Tsang, Darwin F. Yeung, Christina Luong, Parvathy Nair, Kenneth Gin, John Jue, John G. Webb and Teresa S. M. Tsang
Diseases 2025, 13(7), 191; https://doi.org/10.3390/diseases13070191 - 22 Jun 2025
Abstract
Background: Despite its high prevalence, little is known about the effect of sex on the management and outcomes of aortic stenosis (AS). We sought to characterize the effect of sex on the clinical evaluation for and provision of aortic valve replacement (AVR), including
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Background: Despite its high prevalence, little is known about the effect of sex on the management and outcomes of aortic stenosis (AS). We sought to characterize the effect of sex on the clinical evaluation for and provision of aortic valve replacement (AVR), including surgical (SAVR) and transcatheter aortic valve replacement (TAVR), and the subsequent morbidity and mortality outcomes. Methods: A comprehensive chart review was conducted on all patients with a first diagnosis of severe aortic stenosis (AS) at Vancouver General and University of British Columbia hospitals from 2012 to 2022. Exact chi-square and Kruskal–Wallis tests were used to evaluate the variables of interest. Results: A total of 1794 studies met the inclusion criteria, comprising 782 females (44%) and 1012 males (56%). Females were significantly older than males at the time of the first diagnosis (79 versus 75 years, p < 0.001). Females were significantly less likely to be evaluated by the TAVR clinic or cardiac surgeon or to receive aortic valve intervention (p-value ≤ 0.001). Females were significantly more likely to be rejected for TAVR due to older age (OR 0.23 (0.07, 0.59)), comorbid conditions (OR 0.68 (0.47, 0.97)), and frailty (OR 0.23 (0.07, 0.59)). Females were significantly more likely to be rejected for SAVR on the basis of frailty (OR 0.66 (0.46, 0.94)). Females also had significantly higher rates of 1-year mortality, hospitalization, and heart failure hospitalization compared to males (p-values < 0.05). Conclusions: Our data suggest significant sex-based discrepancies in the management of AS. Females with severe AS are diagnosed later in life and are less likely to be evaluated for valve intervention. They are less likely to receive intervention due to older age, frailty, and multimorbid conditions. Further research is warranted for a more effective identification and follow up of aortic stenosis, as well as timely referral for AVR, where appropriate, especially for females.
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(This article belongs to the Section Cardiology)
Open AccessArticle
Profile of Users and Adequacy of Hospital Emergency Services in Response to Healthcare Demand Among Population Aged 65 Years and over
by
Rafael Gómez-Galán, José Francisco López-Gil, María Mendoza-Muñoz, Jorge Carlos-Vivas, Julián Carvajal-Gil and Laura Muñoz-Bermejo
Diseases 2025, 13(7), 190; https://doi.org/10.3390/diseases13070190 - 21 Jun 2025
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Objectives: This study aimed to describe the profile and identify the clinical and sociodemographic factors associated with emergency department (ED) use among patients aged ≥65 years. Methods: This was a retrospective cross-sectional study of patients aged ≥65 years who were seen
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Objectives: This study aimed to describe the profile and identify the clinical and sociodemographic factors associated with emergency department (ED) use among patients aged ≥65 years. Methods: This was a retrospective cross-sectional study of patients aged ≥65 years who were seen in the emergency department of the Hospital de Mérida (Spain) in 2019, the year before the Coronavirus Disease 2019 (COVID-19) pandemic. Descriptive statistics were calculated for dependent variables such as hours of ED stay, total number of visits, reasons for discharge, and diagnostic specialty, disaggregated by gender, season, age group, day type (work or holiday), shift, and population area (rural or urban). Results: Significant differences in ED hours were found according to gender (p < 0.001), season (p = 0.024), age group (p < 0.001), attention shift (p < 0.001), and population area (p = 0.003). Discharge to home was the most common destination (63.5%), followed by hospital admission (25.7%). Admissions for gastrointestinal surgery and neurology were predominant in men, and admissions for internal medicine and trauma were predominant in women. Patients aged 65–79 years were admitted to internal medicine, and those over 80 years were admitted to cardiology. Among patients who presented to the hospital’s emergency department and required admission, 51.5% were men aged ≥ 75 years, rising to 53.3% among those aged 65 to 74 years. The clinical areas were related to cardiology (27.67%) and pneumology (20.63%). Conclusions: Demands for ED care in those over 65 years of age are associated with sociodemographic and clinical characteristics, which can be used to better plan and manage resources and improve user satisfaction.
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Open AccessArticle
Effects of a Food Supplement Containing Hydrolyzed Collagen on Pain Perception, Joint Range, and Quality of Life in People with Chronic Knee Pain
by
Juan Carlos Salinas-Camargo, Cristian Marín-Pagán, Rosario Victoria Álvarez-Gil, Francisco Javier Martínez-Noguera, María Cabrera-Cabrera, Josep Manuel Llabrés-Laguarda, María Isabel Vasallo-Morillas and Pedro E. Alcaraz
Diseases 2025, 13(7), 189; https://doi.org/10.3390/diseases13070189 - 20 Jun 2025
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Background: Joint pain can impair joint function and limit a person’s ability to perform basic tasks and quality of life. The most used treatment is the pharmacological one. An alternative is the use of collagen-based food supplements. However, it remains a challenge to
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Background: Joint pain can impair joint function and limit a person’s ability to perform basic tasks and quality of life. The most used treatment is the pharmacological one. An alternative is the use of collagen-based food supplements. However, it remains a challenge to continue to develop new formulations to improve their efficacy. Objectives: The aim was to evaluate the long-term effectiveness of a food supplement based on hydrolyzed collagen alongside other active ingredients on knee joint pain, range of motion, and quality of life questionnaires in a moderately active population. Methods: A randomized, double-blind, and controlled study with two arms was completed with 80 participants, who took the prescribed supplementation (Curarti® Selectium) or placebo for 40 days. Results: The supplement group showed a reduction of pain felt just after waking up in the morning. A statistically significant reduction in felt pain 3 h after exercise was observed at week 6 for the new product formula group compared to the placebo group. The symptoms associated with knee problems (KOOS) showed significant differences between groups. In functional capacity (WOMAC), it was found that the improvement was greater in the group treated with investigational formula (IF) than in the placebo group. The 36-item short form health survey (SF-36) about quality of life showed that the individuals who took IF improved with respect to those who took a placebo. Conclusions: The intake of Curarti® Selectium for 40 days is effective in reducing joint pain at rest and after physical exercise, as well as maintaining the perception of quality of life, while allowing the physical functionality of the joint.
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