Diseases

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

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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)

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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)

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15 pages, 1231 KiB

Open AccessReview

Endoscopic Ultrasound (EUS) in Gastric Cancer: Current Applications and Future Perspectives

by Dimitrios I. Ziogas, Nikolaos Kalakos, Anastasios Manolakis, Theodoros Voulgaris, Ioannis Vezakis, Mario Tadic and Ioannis S. Papanikolaou

Diseases 2025, 13(8), 234; https://doi.org/10.3390/diseases13080234 - 24 Jul 2025

Abstract

Gastric cancer remains the fourth leading cause of cancer-related mortality worldwide. Advanced disease is associated with a poor prognosis, emphasizing the critical importance of early diagnosis through endoscopy. In addition to prognosis, disease extent also plays a pivotal role in guiding management strategies. [...] Read more.

Gastric cancer remains the fourth leading cause of cancer-related mortality worldwide. Advanced disease is associated with a poor prognosis, emphasizing the critical importance of early diagnosis through endoscopy. In addition to prognosis, disease extent also plays a pivotal role in guiding management strategies. Therefore, accurate locoregional staging (T and N staging) is vital for optimal prognostic and therapeutic planning. Endoscopic ultrasound (EUS) has long been an essential tool in this regard, with computed tomography (CT) and, more recently, positron emission tomography–computed tomography (PET–CT) serving as alternative imaging modalities. EUS is particularly valuable in the assessment of early gastric cancer, defined as tumor invasion confined to the mucosa or submucosa. These tumors are increasingly managed by endoscopic resection techniques offering improved post-treatment quality of life. EUS has also recently been utilized in the restaging process after neoadjuvant chemotherapy, aiding in the evaluation of tumor resectability and prognosis. Its performance may be further enhanced through the application of emerging techniques such as contrast-enhanced endosonography, EUS elastography, and artificial intelligence systems. In advanced, unresectable disease, complications such as gastric outlet obstruction (GOO) severely impact patient quality of life. In this setting, EUS-guided gastroenterostomy (EUS-GE) offers a less invasive alternative to surgical gastrojejunostomy. This review summarizes and critically analyzes the role of EUS in the context of gastric cancer, highlighting its applications across different stages of the disease and evaluating its performance relative to other diagnostic modalities. Full article

(This article belongs to the Section Gastroenterology)

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9 pages, 242 KiB

Open AccessArticle

Short Stem vs. Standard Stem in Primary Total Hip Replacement: A Perioperative Prospective Invasiveness Study with Serum Markers

by Marco Senarighi, Carlo Ciccullo, Luca de Berardinis, Leonard Meco, Nicola Giampaolini, Simone Domenico Aspriello, Luca Farinelli and Antonio Pompilio Gigante

Diseases 2025, 13(8), 233; https://doi.org/10.3390/diseases13080233 - 23 Jul 2025

Abstract

Background: Total hip arthroplasty (THA) is a well-established surgical procedure for end-stage hip arthrosis. Innovations such as minimally invasive approaches and new technologies have improved outcomes and reduced invasiveness. The introduction of short-stem prostheses, which offer potential benefits in bone preservation, has been [...] Read more.

Background: Total hip arthroplasty (THA) is a well-established surgical procedure for end-stage hip arthrosis. Innovations such as minimally invasive approaches and new technologies have improved outcomes and reduced invasiveness. The introduction of short-stem prostheses, which offer potential benefits in bone preservation, has been a significant development in recent years. This prospective case series study aims to compare invasiveness of the short-stem (SS) and conventional-stem (CS) prostheses in THA with a posterolateral approach (PLA) by assessing perioperative serum markers. Methods: A prospective case series was conducted involving consecutive patients who underwent primary THA from January 2022 to December 2023. Demographics and preoperative, postoperative day 1 (POD1), and postoperative day 2 (POD2) serum levels of C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), procalcitonin (PCT), and white blood cells (WBCs) were measured. Results: The study included 21 patients with CS and 19 with SS, with no significant differences between groups in demographic. No statistically significant differences were found in serum markers between SS and CS groups at any time point. Both groups showed significant increases in ESR, CRP, and PCT from preoperative levels to POD2 (p < 0.001), while WBC values increased from preoperative to POD1 but decreased between POD1 and POD2. Conclusion: The short-stem prosthesis does not exhibit significantly different perioperative serum marker profiles compared to the conventional stem, suggesting similar levels of surgical invasiveness between the two implants. Further studies with larger sample sizes are needed to validate these findings and explore other aspects of short-stem THA. Full article

15 pages, 302 KiB

Open AccessReview

Pruritus in Palliative Care: A Narrative Review of Essential Oil-Based Strategies to Alleviate Cutaneous Discomfort

by Sara Diogo Gonçalves

Diseases 2025, 13(8), 232; https://doi.org/10.3390/diseases13080232 - 23 Jul 2025

Abstract

Pruritus is a common and distressing symptom in palliative care, often resulting from complex underlying conditions such as cancer, chronic kidney disease, and liver failure. Conventional pharmacological treatments frequently offer limited relief and may produce undesirable side effects in this medically fragile population. [...] Read more.

Pruritus is a common and distressing symptom in palliative care, often resulting from complex underlying conditions such as cancer, chronic kidney disease, and liver failure. Conventional pharmacological treatments frequently offer limited relief and may produce undesirable side effects in this medically fragile population. Despite the high prevalence and impact of pruritus in palliative care, there is a lack of consolidated evidence on integrative non-pharmacological approaches. This narrative review explores the potential role of essential oils as a complementary approach to managing pruritus in palliative settings. A review of the literature was conducted to examine the mechanisms of action, safety considerations, and clinical outcomes associated with the use of essential oils, with a particular focus on their anti-inflammatory, neuromodulatory, and soothing properties. Evidence suggests that essential oils may provide symptom relief and enhance quality of life when integrated into multidisciplinary care; however, small sample sizes, heterogeneity, and methodological weaknesses often limit the findings of these studies. Furthermore, the long-term safety and antigenotoxic potential of essential oils remain underexplored. This narrative review concludes that while essential oils appear promising as adjunct therapies for pruritus, further rigorous research, particularly well-designed clinical trials and toxicological assessments, is needed to support their safe and effective use in palliative care. Full article

31 pages, 4277 KiB

Open AccessArticle

Optimizing Perioperative Care in Esophageal Surgery: The EUropean PErioperative MEdical Networking (EUPEMEN) Collaborative for Esophagectomy

by Orestis Ioannidis, Elissavet Anestiadou, Angeliki Koltsida, Jose M. Ramirez, Nicolò Fabbri, Javier Martínez Ubieto, Carlo Vittorio Feo, Antonio Pesce, Kristyna Rosetzka, Antonio Arroyo, Petr Kocián, Luis Sánchez-Guillén, Ana Pascual Bellosta, Adam Whitley, Alejandro Bona Enguita, Marta Teresa-Fernandéz, Stefanos Bitsianis and Savvas Symeonidis

Diseases 2025, 13(8), 231; https://doi.org/10.3390/diseases13080231 - 22 Jul 2025

Abstract

Background/Objectives: Despite advancements in surgery, esophagectomy remains one of the most challenging and complex gastrointestinal surgical procedures, burdened by significant perioperative morbidity and mortality rates, as well as high financial costs. Recognizing the need for standardized care provided by a multidisciplinary healthcare team, [...] Read more.

Background/Objectives: Despite advancements in surgery, esophagectomy remains one of the most challenging and complex gastrointestinal surgical procedures, burdened by significant perioperative morbidity and mortality rates, as well as high financial costs. Recognizing the need for standardized care provided by a multidisciplinary healthcare team, the EUropean PErioperative MEdical Networking (EUPEMEN) initiative developed a dedicated protocol for perioperative care of patients undergoing esophagectomy, aiming to enhance recovery, reduce morbidity, and homogenize care delivery across European healthcare systems. Methods: Developed through a multidisciplinary European collaboration of five partners, the protocol incorporates expert consensus and the latest scientific evidence. It addresses the entire perioperative pathway, from preoperative preparation to hospital discharge and postoperative recovery, emphasizing patient-centered care, risk mitigation, and early functional restoration. Results: The implementation of the EUPEMEN esophagectomy protocol is expected to improve patient outcomes through a day-by-day structured prehabilitation plan, meticulous intraoperative management, and proactive postoperative rehabilitation. The approach promotes reduced postoperative complications, earlier return to oral intake, and shorter hospital stays, while supporting multidisciplinary coordination. Conclusions: The EUPEMEN protocol for esophagectomy provides a comprehensive guideline framework for optimizing perioperative care in esophageal surgery. In addition, it serves as a practical guide for healthcare professionals committed to advancing surgical recovery and standardizing clinical practice across diverse care environments across Europe. Full article

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22 pages, 1241 KiB

Open AccessSystematic Review

Safety and Efficacy of Immune Checkpoint Inhibitors in Human Immunodeficiency Virus-Associated Cancer: A Systematic Scoping Review

by Ahmed D. Alatawi, Amirah B. Alaqyl, Reema J. Alalawi, Rahaf S. Alqarni, Razan A. Sufyani, Ghadi S. Alqarni, Raghad S. Alqarni, Jumana H. Albalawi, Raghad A. Alsharif, Ghada I. Alatawi, Elaf N. Albalawi, Danah A. Alanazi, Sultanah A. Naitah, Reem Sayad and Helal F. Hetta

Diseases 2025, 13(8), 230; https://doi.org/10.3390/diseases13080230 - 22 Jul 2025

Abstract

Background/Objective: People living with human immunodeficiency virus (PHIV) are at increased risk for malignancies, yet their access to immunotherapy remains limited due to concerns about safety and efficacy. This systematic scoping review evaluates the use of immune checkpoint inhibitors (ICIs) in HIV-associated cancers, [...] Read more.

Background/Objective: People living with human immunodeficiency virus (PHIV) are at increased risk for malignancies, yet their access to immunotherapy remains limited due to concerns about safety and efficacy. This systematic scoping review evaluates the use of immune checkpoint inhibitors (ICIs) in HIV-associated cancers, analyzing patient outcomes, safety profiles, and the impact on HIV status. Methods: A comprehensive literature search was conducted in databases including PubMed, Scopus, Web of Science (WoS), and Medline, up to January 2025. Studies included assessing the efficacy of ICIs in cancer patients with HIV. The primary outcomes were (a) the efficacy of immune ICIs on prognosis, progression-free survival (PFS), and overall survival (OS). Secondary outcomes were the immune-related adverse events (irAEs) and the survival rate of cancer patients receiving ICIs. Results: A total of 107 cases from 19 studies published between 2011 and 2024 were reviewed. Responses to programmed death 1 (PD-1) inhibitors varied, with 27.1% achieving partial response, 23.36% experiencing stable disease, and 6.54% achieving complete response, while 34.57% had disease progression. Adverse events, including hematologic and endocrine toxicities, were common but mostly manageable. HIV viral loads remained stable in most cases. Conclusions: PD-1 inhibitors demonstrated potential efficacy in HIV-associated malignancies with a safety profile comparable to the general population. However, disease progression remained a concern, highlighting the need for optimized patient selection. Further well-controlled trials are essential to establish treatment guidelines and ensure equitable access to immunotherapy for PHIV. Full article

(This article belongs to the Special Issue Cancer Inhibitory Receptors and Related Cancer Immunotherapy)

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15 pages, 392 KiB

Open AccessSystematic Review

Functional Status in Elderly Kidney Transplant Recipients: A Systematic Review Evaluating Physical Function, Frailty, and Cognitive Impairment as Predictors of Post-Transplant Outcomes

by Hachem Araji, Yazan A. Al-Ajlouni, Jana Nusier, Walid Sange, Elie El-Charabaty and Suzanne El-Sayegh

Diseases 2025, 13(7), 229; https://doi.org/10.3390/diseases13070229 - 21 Jul 2025

Abstract

Background: The management of end-stage renal disease (ESRD) is undergoing a paradigm shift, with increasing emphasis on kidney transplantation as a preferred treatment modality for elderly patients (≥65 years), who constitute a substantial portion of new ESRD cases. Transplantation offers markedly superior survival [...] Read more.

Background: The management of end-stage renal disease (ESRD) is undergoing a paradigm shift, with increasing emphasis on kidney transplantation as a preferred treatment modality for elderly patients (≥65 years), who constitute a substantial portion of new ESRD cases. Transplantation offers markedly superior survival and quality of life (QoL) advantages compared to dialysis for this demographic. Nevertheless, key determinants such as frailty, physical functionality, and cognitive function have emerged as critical predictors of post-transplant success. Despite their relevance, standardized methodologies for evaluating these parameters in transplantation candidacy remain absent. This systematic review examines the influence of frailty, physical functionality, and cognitive function on outcomes in elderly kidney transplant recipients. Methods: Adhering to PRISMA guidelines, a rigorous literature search was conducted across PubMed, CINAHL, Embase, PsycINFO, and the Web of Science for studies published up to October 31, 2024. Relevant studies focused on elderly transplant candidates and examined correlations between frailty, physical functionality, or cognitive function and post-transplant outcomes. The Newcastle–Ottawa Scale was employed to evaluate studies quality. Results: Seven studies met the inclusion criteria. Five explored physical functionality, demonstrating that better pre-transplant physical performance predicts enhanced survival. Two studies addressed frailty, utilizing the Fried frailty phenotype, and linked frailty to elevated mortality and diminished QoL recovery. Notably, no studies explored cognitive function in elderly kidney transplant candidates or recipients and its association with post-transplant outcomes, exposing a salient gap in the literature. The included studies’ varied methodologies, reliance on single time-point assessments, and exclusive focus on kidney transplant recipients restrict both comparability among studies and the generalizability of findings to the broader end-stage renal disease (ESRD) population. Conclusions: These findings underscore the profound impact of physical functionality and frailty on transplant outcomes in the growing elderly kidney transplant population, illuminating the necessity for standardized assessment protocols and targeted pre-transplant interventions. The critical gap in cognitive function research underscores a vital direction for future investigation. This research received no external funding. This review is registered with PROSPERO under registration ID CRD42025645838. Full article

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8 pages, 530 KiB

Open AccessCase Report

An Unusual Case of Anuric Acute Kidney Injury Secondary to the Use of Low-Dose Acetazolamide as Preventive Management for Acute Mountain Sickness

by Marco Dominguez Davalos, Raúl Valenzuela Córdova, Celia Rodríguez Tudero, Elena Jiménez Mayor, Carlos Bedia Castillo, José C. De La Flor, Roger Leon Montesinos, Cristian León Rabanal, Michael Cieza Terrones and Javier A. Neyra

Diseases 2025, 13(7), 228; https://doi.org/10.3390/diseases13070228 - 21 Jul 2025

Abstract

Background/Objectives: Acetazolamide is widely used for acute mountain sickness (AMS) prophylaxis. Whilst generally safe, acute kidney injury (AKI) is a rare but serious adverse event. We present a case of anuric AKI following minimal exposure to acetazolamide, contributing to the limited literature [...] Read more.

Background/Objectives: Acetazolamide is widely used for acute mountain sickness (AMS) prophylaxis. Whilst generally safe, acute kidney injury (AKI) is a rare but serious adverse event. We present a case of anuric AKI following minimal exposure to acetazolamide, contributing to the limited literature on its nephrotoxicity at prophylactic doses. Methods: A 54-year-old previously healthy male ingested 250 mg/day of oral acetazolamide for two days. He developed acute anuria and lumbar pain. Diagnostic evaluation included laboratory tests, imaging, microbiological cultures, autoimmune panels, and diuretic response. No signs of infection, urinary tract obstruction, or systemic disease were found. Results: The patient met KDIGO 2012 criteria for stage 3 AKI, with peak serum creatinine of 10.6 mg/dL and metabolic acidosis. Imaging confirmed non-obstructive nephrolithiasis. Conservative treatment failed; intermittent hemodialysis was initiated. Renal function recovered rapidly, with the normalization of serum creatinine and urinary output by day 4. Conclusions: This case represents the lowest cumulative dose of acetazolamide reported to cause stage 3 AKI. The findings support a pathophysiological mechanism involving sulfonamide-induced crystalluria and intratubular obstruction. Physicians should consider acetazolamide in the differential diagnosis of AKI, even with short-term prophylactic use. Full article

(This article belongs to the Section Respiratory Diseases)

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15 pages, 427 KiB

Open AccessReview

Therapeutic Implications of Menin Inhibitors in the Treatment of Acute Leukemia: A Critical Review

by Martina Canichella, Cristina Papayannidis, Carla Mazzone and Paolo de Fabritiis

Diseases 2025, 13(7), 227; https://doi.org/10.3390/diseases13070227 - 19 Jul 2025

Abstract

Menin inhibitors are a class of targeted agents that exemplify how a deeper understanding of leukemia pathogenesis can unify seemingly distinct genetic acute leukemia subgroups under a common therapeutic strategy. In particular, acute leukemia with NPM1 mutations (NPM1m) and KMT2A rearrangements ( [...] Read more.

Menin inhibitors are a class of targeted agents that exemplify how a deeper understanding of leukemia pathogenesis can unify seemingly distinct genetic acute leukemia subgroups under a common therapeutic strategy. In particular, acute leukemia with NPM1 mutations (NPM1m) and KMT2A rearrangements (KMT2Ar) represent the primary targets of this emerging drug class. Acute myeloid leukemia (AML) with NPM1m—which accounts for approximately 30% of AML cases and AML or acute lymphoblastic leukemia (ALL) with KMT2Ar—and is present in 5–10% of cases, shares a common pathogenetic mechanism: the aberrant activation of the MEIS1–HOXA axis. These leukemic subsets are associated with poor prognosis, particularly in the relapsed/refractory (R/R) setting. For KMT2Ar AML, the prognosis is especially dismal, with a median overall survival (OS) of 2.4 months and a complete remission (CR) rate of only 5%. In NPM1m AML, intensive chemotherapy achieves remission in approximately 80% of cases, but relapse remains a major challenge, occurring in nearly 50% of patients. Relapsed NPM1m AML is linked to a poor prognosis, with a median OS of 6.1 months (12-month OS: 30%) and a median relapse-free survival (RFS) of 5.5 months (12-month RFS: 34%). Menin inhibitors directly target the leukemogenic transcriptional program driven by HOX and MEIS1, disrupting oncogenic signaling and offering a promising therapeutic approach for these high-risk patients. This class of agents has rapidly progressed through clinical development, showing promising antileukemic activity in both treatment-naïve and R/R AML. Currently, six menin inhibitors are in clinical evaluation as monotherapy or in combination regimens: revumenib, ziftomenib, bleximenib (previously JNJ-75276617), enzomenib (previously DSP-5336), DS-1594, and BMF-219. In this review, we critically analyze the clinical development and therapeutic potential of the four most extensively studied menin inhibitors—revumenib, ziftomenib, bleximenib, and enzomenib. We discuss their efficacy, safety profiles, and potential roles within the current treatment algorithm. The continued clinical evaluation of menin inhibitors may redefine treatment paradigms for NPM1m and KMT2Ar AML and other acute leukemia with the aberrant MEIS1-HOXA axis, offering new hope for patients with limited therapeutic options. Full article

(This article belongs to the Special Issue Targeted Therapies for Acute Leukemias)

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8 pages, 482 KiB

Open AccessCase Report

Endovascular Treatment of a Symptomatic Vertebral Artery Aneurysm in a Puerperal Patient with Neurofibromatosis Type 1—A Case Report and Review of the Literature

by Nikola Mirkovic, Marko Prokic, Nikola Prodanovic, Tamara Nikolic Turnic, Nikola Andric, Tijana Prodanovic, Neda Arsenijevic, Ivan Simic, Dragan Knezevic and Aleksandar Matic

Diseases 2025, 13(7), 226; https://doi.org/10.3390/diseases13070226 - 18 Jul 2025

Abstract

Introduction: Primary extracranial vertebral artery aneurysms are sporadic in the general population. They are uncommon in individuals with neurofibromatosis type 1. During pregnancy or in the puerperium, the risk of aneurysm rupture in individuals with neurofibromatosis type 1 and extracranial aneurysms is elevated. [...] Read more.

Introduction: Primary extracranial vertebral artery aneurysms are sporadic in the general population. They are uncommon in individuals with neurofibromatosis type 1. During pregnancy or in the puerperium, the risk of aneurysm rupture in individuals with neurofibromatosis type 1 and extracranial aneurysms is elevated. Rupture of a vertebral artery aneurysm is an emergency condition and can be fatal. Case presentation: We present the case of a 33-year-old woman in the puerperium with neurofibromatosis type 1 who had a vertebral symptomatic artery aneurysm. During a previous hospitalization, two months before the treatment of the vertebral aneurysm, a same-sided aneurysm of the thyrocervical trunk was successfully treated with endovascular coiling because of aneurysm rupture. In this case report, the vertebral artery aneurysm was successfully managed using a flow diverter stent graft. Conclusions: This is the first reported case of a successfully treated symptomatic vertebral artery aneurysm with a flow diverter stent graft in a patient with neurofibromatosis type 1 during the early puerperium. Endovascular treatment with a stent graft is a minimally invasive, safe, and effective treatment for patients with vertebral artery aneurysms. Early diagnosis of non-ruptured vertebral artery aneurysms is a crucial as well as appropriate treatment, which should be undertaken in a timely manner to prevent serious complications or a fatal outcome. Full article

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13 pages, 3385 KiB

Open AccessReview

Efficacy of Dupilumab in a Young Woman with Refractory Cutaneous Lichen Planus: A Case-Based Review

by Cristina Guerriero, Luisa Boeti, Francesco Mastellone, Giulia Coscarella, Gennaro Marco Falco, Gerardo Palmisano, Helena Pelanda, Ketty Peris and Donato Rigante

Diseases 2025, 13(7), 225; https://doi.org/10.3390/diseases13070225 - 18 Jul 2025

Abstract

Background: Cutaneous lichen planus (CLP) is a chronic inflammatory T cell-mediated disease driven by a mixed Th1 and Th2 lymphocyte population, for which many of the currently available treatments have poor efficacy. Aim: The aim of this study was to indicate the clinical [...] Read more.

Background: Cutaneous lichen planus (CLP) is a chronic inflammatory T cell-mediated disease driven by a mixed Th1 and Th2 lymphocyte population, for which many of the currently available treatments have poor efficacy. Aim: The aim of this study was to indicate the clinical success of dupilumab administration after two years of treatment in a case of longstanding CLP and to perform a review of the medical literature related to the use of dupilumab in different dermatologic settings and in CLP. Case presentation: One 26-year-old woman with a previous history of atopic dermatitis had a long-lasting skin condition, referred to as a suspected lichen, which started when she was 7 years old. Her disease exhibited a relapsing–remitting course with severe bouts of pruritus over a very long period. The final histological diagnosis of CLP was confirmed at the age of 26. Starting dupilumab (injected subcutaneously at a dose of 600 mg followed by a maintenance dose of 300 mg every two weeks) resolved the skin scenery of this patient, who is currently in full remission. Conclusions: The remarkable recovery from CLP obtained via treatment with dupilumab in this single-patient case study emphasizes the potential therapeutic implications of targeting the Th2 pathway in this skin disorder. Full article

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9 pages, 215 KiB

Open AccessArticle

Psychotic Symptoms in Cataract Patients Without Overt Psychosis Are Ameliorated Following Successful Cataract Surgery

by Georgios D. Floros, Ioanna Mylona and Stylianos Kandarakis

Diseases 2025, 13(7), 224; https://doi.org/10.3390/diseases13070224 - 18 Jul 2025

Abstract

Background: Cataract is the leading cause of severe, non-traumatic vision loss worldwide, leading to multiple adverse outcomes in mental health, including depression, anxiety, and cognitive decline; however, the relationship to psychotic symptoms remains unclear. While congenital vision loss appears protective against psychosis, acquired [...] Read more.

Background: Cataract is the leading cause of severe, non-traumatic vision loss worldwide, leading to multiple adverse outcomes in mental health, including depression, anxiety, and cognitive decline; however, the relationship to psychotic symptoms remains unclear. While congenital vision loss appears protective against psychosis, acquired vision loss or acute deprivation are inducing psychotic symptoms. Methods: This study of 200 consecutive cataract patients, with severe vision loss, compares Paranoid Ideation and Psychoticism symptoms pre surgery, measured with the SCL-90-R scale, to those symptoms that persisted two months post-surgery. Results: The results confirm the hypothesis that cataract surgery is associated with a reduction in those symptoms (Wilcoxon Z = 5.425, p < 0.001 for Paranoid Ideation and Wilcoxon Z = 6.478, p < 0.001 for Psychoticism). Higher improvement in those variables was associated with higher improvement in visual acuity while controlling for age, gender and stressful life events during the past six months. Conclusions: Those results point to the importance of addressing loss of visual function especially in patients with pre-existing psychotic symptoms or signs of cognitive decline. Full article

8 pages, 1541 KiB

Open AccessCase Report

Atypical Rapid Onset of Olmesartan-Induced Enteropathy with Recurrence After Rechallenging

by Lila Bekkai, Aymen Ibn Majah, Laurine Verset, Lucas Jacobs, Charline Danneel, Okyay Elkilic, Frédéric Collart, Joëlle Nortier and Maxime Taghavi

Diseases 2025, 13(7), 223; https://doi.org/10.3390/diseases13070223 - 18 Jul 2025

Abstract

Background: Olmesartan-induced enteropathy is a rare complication of a widely used angiotensin II receptor blocker. Patients usually present with chronic diarrhea and weight loss. Histologically, villous atrophy and intraepithelial lymphocyte infiltrates within the duodenum confirm the diagnosis. The prognosis is usually good after [...] Read more.

Background: Olmesartan-induced enteropathy is a rare complication of a widely used angiotensin II receptor blocker. Patients usually present with chronic diarrhea and weight loss. Histologically, villous atrophy and intraepithelial lymphocyte infiltrates within the duodenum confirm the diagnosis. The prognosis is usually good after withdrawal of the offending drug. Case presentation: Here, we report the case of a 76-year-old woman who developed a severe form of Olmesartan-induced enteropathy complicated by acute kidney injury and acute recurrence after drug rechallenge. After definite cessation of the drug, the patient did not experience any gastrointestinal (GI) symptom recurrence after 6 months of follow-up. However, she experienced chronic kidney disease stage G3b. Histological analysis did not show any villous atrophy or intraepithelial lymphocyte infiltrates within the duodenum or the colon biopsy. Discussion and conclusion: This case highlights the broad spectrum of clinical manifestations and histological findings in Olmesartan-induced enteropathy. It also highlights the importance of rapid diagnosis in order to limit organ damage such as chronic kidney disease. Full article

(This article belongs to the Special Issue ‘Rare Syndromes: Diagnosis and Treatment’ in 2024–2026)

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14 pages, 1342 KiB

Open AccessArticle

Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications

by Robert de Deugd, Julián Camilo Riano, Esther de Vries, Andrés F. Cardona, July Rodriguez, Ana Fidalgo-Zapata, Yesid Sanchez, Santiago Sanchez, Justo Olaya, Daniel de Leon, Carlos Andrés Ossa, Humberto Reynales, Paula Quintero, Elizabeth Vargas, Ute Hamann and Diana Torres

Diseases 2025, 13(7), 222; https://doi.org/10.3390/diseases13070222 - 18 Jul 2025

Abstract

Background: Genetic insights from diverse populations are key to advancing cancer detection, treatment, and prevention. Unlike other Latin American countries, Colombia lacks a centralized registry for germline and somatic mutations in breast and ovarian cancer. This study describes the country’s first national variant [...] Read more.

Background: Genetic insights from diverse populations are key to advancing cancer detection, treatment, and prevention. Unlike other Latin American countries, Colombia lacks a centralized registry for germline and somatic mutations in breast and ovarian cancer. This study describes the country’s first national variant registry, and the occurrence of recurrent mutations and potential founder effects in Colombia. Methods: To address this gap, we implemented the first capturing protocol using the REDCap system. In a group of 213 breast and/or ovarian cancer patients harboring genetic mutations, we collected genetic, clinical, and demographic data from 13 regional centers across Colombia. Statistical analyses assessed variant distribution and patient demographics. Results: Among 229 identified variants (105 germline, 124 somatic), most were classified as pathogenic or likely pathogenic (72.4% germline, 87% somatic). BRCA1 and BRCA2 accounted for the majority of recurrent mutations. Germline recurrent variants (seen >3 times) were recorded for BRCA1 (77.7%; 21/27) and BRCA2 (22.3%; 6/27). Similarly, recurrent somatic variants were identified for BRCA1 (82.6%; 38/46) and BRCA2 (17.4%; 8/46). Notably, four recurrent variants were previously reported as founder mutations: BRCA1 c.1674del (14.3% germline and 23.7% somatic), BRCA1 c.3331_3334del (33.3% germline and 52.6% somatic), BRCA1 c.5123C>A (52.4% germline and 23.7% somatic), and BRCA2 c.2808_2811del (50% germline and 50% somatic). Most cases originated from the Andean region, highlighting regional disparities. Conclusions: This registry offers the first overview of genetic variants in Colombian breast and ovarian cancer patients. Recurrent and region-specific mutations highlight the need for population-focused data to guide targeted screening and personalized care strategies. Full article

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25 pages, 821 KiB

Open AccessReview

Cellular and Molecular Bases for the Application of Polyphenols in the Prevention and Treatment of Cardiovascular Disease

by Carlo Caiati and Emilio Jirillo

Diseases 2025, 13(7), 221; https://doi.org/10.3390/diseases13070221 - 15 Jul 2025

Abstract

Background: Cardiovascular disease (CVD) is very widespread in countries with a Western-style diet, representing one of the major causes of morbidity. Genetic factors, obesity, diabetes, dyslipidemia, smoking, and ageing are risk factors for CVD outcomes. From a pathogenic point of view, the condition [...] Read more.

Background: Cardiovascular disease (CVD) is very widespread in countries with a Western-style diet, representing one of the major causes of morbidity. Genetic factors, obesity, diabetes, dyslipidemia, smoking, and ageing are risk factors for CVD outcomes. From a pathogenic point of view, the condition of low-grade inflammation of the arteries leads to endothelial damage and atherosclerosis development. Nowadays, a broad range of drugs is available to treat CVD, but many of them are associated with side effects. Therefore, alternative therapeutic remedies need to be discovered in combination with conventional drugs. A balanced diet rich in fruits and vegetables, e.g., the Mediterranean diet, has been shown to lower the incidence of CVD. Plant-derived polyphenols are ingested in food, and these compounds can exert beneficial effects on human health, such as antioxidant and anti-inflammatory activities. Objective: In the present review, the cellular and molecular bases of the beneficial effects of polyphenols in the prevention and treatment of CVD will be pointed out. Methods: This review has been conducted on the basis of a literature review spanning mainly the last two decades. Results: We found that an increased dietary intake of polyphenols is associated with a parallel decrease in chronic disease incidence, including CVD. Conclusion: Despite a plethora of preclinical studies, more clinical trials are needed for a more appropriate treatment of CVD with polyphenols. Full article

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Graphical abstract

11 pages, 1319 KiB

Open AccessBrief Report

Myxoid Liposarcoma of the Thigh in Early Puerperium—Rare Case Report and Narrative Review

by Tomasz Machałowski, Piotr Gutowski, Edyta Zagrodnik, Aleksandra Godlewska, Katarzyna Śmieja, Oliwia Kawałek, Anna Grzymała-Figura, Sylwester Michał Ciećwież, Katarzyna Gross-Kępińska, Małgorzata Szczuko and Maciej Ziętek

Diseases 2025, 13(7), 220; https://doi.org/10.3390/diseases13070220 - 14 Jul 2025

Abstract

Background: Liposarcoma (LPS) is a rare malignant tumor, but it is also one of the most common adult soft-tissue sarcomas. Myxoid liposarcoma (MLPS) accounts for 30% of all LPS cases. Diagnosis during pregnancy and the puerperium is very rarely reported, and only a [...] Read more.

Background: Liposarcoma (LPS) is a rare malignant tumor, but it is also one of the most common adult soft-tissue sarcomas. Myxoid liposarcoma (MLPS) accounts for 30% of all LPS cases. Diagnosis during pregnancy and the puerperium is very rarely reported, and only a few cases have been reported in the thigh. Case presentation: We report the case of a 36-year-old female patient on the 11th day of the puerperium after a cesarean section. The patient presented to the gynecology ward owing to the sudden appearance of a tumor in the medial part of her right thigh. The lesion was non-painful, mobile, soft, approximately 20 cm in diameter, and protruded above the level of the rest of the thigh surface. A suspicion of hematoma was raised. The final diagnosis was high-grade MLPS. Conclusions: An MLPS diagnosis is uncommon in female patients and even rarer during pregnancy. This case represents a novel occurrence, as the first instance in which symptoms manifested during the puerperium. Proper treatment and early detection could improve disease outcomes. Full article

(This article belongs to the Special Issue ‘Rare Syndromes: Diagnosis and Treatment’ in 2024–2026)

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20 pages, 2523 KiB

Open AccessArticle

The Association of VDR, CYP2R1, and GC Gene Polymorphisms, Dietary Intake, and BMI in Regulating Vitamin D Status

by Carmina Mariana Stroia, Annamaria Pallag, Maria Vrânceanu, David de Lorenzo, Keith Anthony Grimaldi, Csaba Robert Pallag, Kinga Vindis, Diana Bei, Cristina Burlou-Nagy (Fati) and Timea Claudia Ghitea

Diseases 2025, 13(7), 219; https://doi.org/10.3390/diseases13070219 - 14 Jul 2025

Abstract

Vitamin D plays a crucial role in bone health and immune function, with serum 25(OH)D levels influenced by genetic, dietary, and metabolic factors. Background/Objectives: This study investigated the impact of VDR rs731236, CYP2R1 rs10741657, and GC rs2282679 polymorphisms, body mass index (BMI), and [...] Read more.

Vitamin D plays a crucial role in bone health and immune function, with serum 25(OH)D levels influenced by genetic, dietary, and metabolic factors. Background/Objectives: This study investigated the impact of VDR rs731236, CYP2R1 rs10741657, and GC rs2282679 polymorphisms, body mass index (BMI), and dietary vitamin D intake on vitamin D status. Methods: A total of 230 adults were classified into four BMI categories: normal weight (NW), overweight (OW), obesity class I (OB), and obesity class II/III (OP). Participants completed a Food Frequency Questionnaire (FFQ) and a 7-day Food Frequency Diary (FFD). Genotyping was performed using TaqMan assays, and serum 25(OH)D was quantified via spectrophotometry. Statistical analyses included ANOVA and multiple linear regression. Results: The VDR rs731236 CC genotype, CYP2R1 rs10741657 AG/GG, and GC rs2282679 AC/CC were associated with lower serum vitamin D levels. A higher BMI was significantly correlated with reduced serum 25(OH)D (p < 0.001), with BMI emerging as the strongest predictor of vitamin D status. FFQ-based dietary intake showed a modest positive correlation with 25(OH)D (r = 0.47, p < 0.001). Conclusions: BMI and genetic variants in VDR, CYP2R1, and GC significantly influence vitamin D metabolism. Personalized interventions addressing genetic predispositions and weight management may improve vitamin D status. Full article

(This article belongs to the Special Issue Metabolic Disorders: Insights into Pathogenesis and Novel Therapeutic Strategies)

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