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A special issue of Diseases (ISSN 2079-9721).

Deadline for manuscript submissions: 1 May 2026 | Viewed by 5639

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Prof. Dr. Omar Cauli

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Frailty and Cognitive Impairment—FROG Research Group, University of Valencia, 46010 Valencia, Spain
Interests: cognitive impairment; frailty syndrome; neurodevelopemntal disorders; depression; neuropathy; sleep; envirnomental factors; comorbidty; immune alterations; metabolic alterations; biomarkers
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Special Issue Information

Dear Colleagues,

We are glad to announce the 1st International Online Conference on Diseases: From Molecular to the Clinical Perspectives, which is part of the International Online Conference on Diseases series.

This conference aims to provide leading scientists working in the field of diseases, from molecular to clinical perspectives, with a robust common platform through which to share and discuss the latest research and promote the advancement of this exciting and rapidly changing field. The website of IOCD-2025 is https://sciforum.net/event/IOCD2025.

We hope to encourage discovery across the discipline as we cover, in this Special Issue, the following themes in a broader way, from molecular to clinical perspectives:

Infectious diseases;
Nutrition and dietetics;
Immune and inflammatory diseases;
Geriatrics;
Cardiovascular diseases;
Neuropsychiatric disorders;
Endocrine and metabolic disorders.

Our journal Diseases (ISSN: 2079-9721) provides an advanced forum for studies related to human diseases and conditions. The aim of Diseases is to encourage scientists to publish their experimental and theoretical results in as much detail as possible. Diseases' actual metrics (2024): current impact factor of 3.0, listed within the JCR category rank Q2: Medicine, Research and Experimental; and a CiteScore of 3.7, within the CiteScore category rank Q1: General Medicine.

We look forward to receiving your contributions.

Prof. Dr. Omar Cauli
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diseases is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

cardiovascular diseases
gastrointestinal and urological diseases
endocrine diseases
nutritional diseases
infectious diseases
neurodegenerative diseases
chronic diseases
hereditary diseases
cancer
neuropsychiatric conditions and mental disorders
immunology
rare syndromes
pathology, therapy, and pathogenesis of human diseases
diseases and society, including patient care

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Published Papers (7 papers)

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Research

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15 pages, 279 KB

Open AccessArticle

Preoperative Systemic Inflammatory Indices and Their Association with Tumor Burden and Surgical Outcomes in High-Grade Serous Ovarian Cancer

by Alexandru Marius Petrusan, Catalin Vladut Ionut Feier, Calin Muntean, Vasile Gaborean, Andrei Stefan Petrusan, Dragos Stefan Morariu, Ionut Flaviu Faur, Alaviana Monique Faur and Patriciu Achimas-Cadariu

Diseases 2026, 14(4), 131; https://doi.org/10.3390/diseases14040131 - 3 Apr 2026

Viewed by 248

Abstract

Background/Objectives: High-grade serous ovarian cancer (HGSOC) represents the most aggressive subtype of epithelial ovarian cancer and is frequently diagnosed at advanced stages. Increasing evidence suggests that systemic inflammation plays an important role in tumor progression and clinical outcomes. This study aimed to evaluate the association between preoperative systemic inflammatory indices and tumor burden, perioperative outcomes, and recurrence risk in patients with HGSOC undergoing primary debulking surgery. Methods: We conducted a retrospective study including 125 patients with histopathologically confirmed HGSOC who underwent primary debulking surgery between January 2020 and December 2025. Preoperative hematological parameters obtained within 24 h before surgery were used to calculate inflammatory indices including the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), lymphocyte-to-monocyte ratio (LMR), systemic immune-inflammation index (SII), systemic inflammation response index (SIRI), and aggregate index of systemic inflammation (AISI). Associations between inflammatory markers, clinicopathological characteristics, perioperative outcomes, and recurrence were analyzed using non-parametric tests and logistic regression models. Results: The mean patient age was 53.66 ± 9.14 years, and most patients presented with advanced disease (FIGO III–IV: 70.4%). Patients with T3 tumors showed significantly higher monocyte (0.66 vs. 0.50 × 10⁹/L, p = 0.003), neutrophil (5.43 vs. 4.99 × 10⁹/L, p = 0.042), and platelet counts (325 vs. 280 × 10⁹/L, p = 0.006) and lower lymphocyte counts (1.79 vs. 1.96 × 10⁹/L, p = 0.009). Composite inflammatory indices were also increased in advanced disease, including PLR (177 vs. 153, p = 0.009), AISI (492 vs. 341, p = 0.002), and SIRI (1.65 vs. 1.18, p = 0.018). Patients requiring postoperative blood transfusion had higher neutrophil counts (7.65 vs. 4.97 × 10⁹/L, p < 0.001) and elevated SIRI (2.56 vs. 1.55, p < 0.001). Patients with recurrence had significantly higher platelet counts (339 vs. 293 × 10⁹/L, p = 0.001) and SII values (2849 vs. 2586, p = 0.012). In multivariate analysis, SII remained independently associated with recurrence (OR 1.022 per 100-unit increase; 95% CI 1.002–1.043; p = 0.033) together with advanced FIGO stages (OR 2.863; 95% CI 1.011–8.104; p = 0.048). Conclusions: Preoperative systemic inflammatory markers are significantly associated with tumor burden, surgical outcomes, and recurrence risk in HGSOC. An elevated SII appears to be an independent predictor of recurrence and may represent a practical biomarker for improving preoperative risk stratification and postoperative surveillance. Full article

(This article belongs to the Special Issue Diseases: From Molecular to the Clinical Perspectives)

13 pages, 370 KB

Open AccessArticle

Pharmacological Management of Delirium in Older Adults in the Emergency Department: Clinical Outcomes

by Angela Soler-Sanchis, Francisco Miguel Martínez-Arnau and Pilar Pérez-Ros

Diseases 2026, 14(2), 68; https://doi.org/10.3390/diseases14020068 - 12 Feb 2026

Viewed by 831

Abstract

Background/Objectives: Delirium is frequent and serious in older adults attending the emergency department (ED), but evidence on its pharmacological management in this setting is limited. This study aimed to quantify the pharmacological treatment of delirium in older adults in the ED and examine its association with subsequent hospital admission. Methods: A cross-sectional study was conducted between November 2021 and June 2022 in a Spanish ED. The sample included 153 adults aged 65 years or older with clinician-diagnosed delirium. Clinical, triage, and medication data were obtained from electronic medical records, and associations with hospital admission were analysed using multivariable logistic regression. Results: Ninety-one participants (59.5%) were hospitalised. Antipsychotic, analgesic, and benzodiazepine use was associated with hospitalisation. Absence of an underlying cause was a protective factor. The logistic regression model was significant. Conclusions: By identifying the most frequently administered pharmacological treatments for delirium in older adults in the ED and describing their association with hospitalisation, this study provides key insights into real-world clinical practice patterns in this setting. Full article

(This article belongs to the Special Issue Diseases: From Molecular to the Clinical Perspectives)

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15 pages, 1287 KB

Open AccessArticle

Colorectal Cancer in the U.S., 1999–2021: Declining Rates, Rising Concerns, and Persistent Disparities

by Qais Bin Abdul Ghaffar, Sayed Maisum Mehdi Naqvi, Garrett Shields, Ebubekir Daglilar and Harleen Chela

Diseases 2025, 13(12), 392; https://doi.org/10.3390/diseases13120392 - 4 Dec 2025

Viewed by 1123

Abstract

Background: Colorectal cancer (CRC) incidence and mortality have declined in the United States over the past two decades, yet disparities persist by age, sex, race/ethnicity, and geography. To characterize population-level survival signals, we examined trends in age-adjusted incidence rates (AAIR), mortality rates (AAMR), and the mortality-to-incidence ratio (AAMIR) from 1999 to 2021, stratified by key subgroups. Methods: This retrospective analysis utilized de-identified data from the CDC WONDER United States Cancer Statistics database, encompassing incident CRC cases (SEER codes 21041–21052) and deaths (ICD-10 codes C18–C20) in adults aged 20 years and older. Age-adjusted rates (per 100,000, 2000 U.S. standard population) and AAMIR were calculated using Stata 17.0. Joinpoint regression identified trends (annual or average annual percent change [APC/AAPC], p < 0.05). Results: Among 3,489,881 cases and 1,225,986 deaths, AAIR decreased from 78.24 (1999) to 50.79 (2021; AAPC: −2.20%, 95% CI: −2.52 to −1.89), AAMR decreased from 29.34 to 17.92 (AAPC: −2.33%, −2.46 to −2.20), and AAMIR from 0.375 to 0.353 (AAPC: −0.08%, −0.47 to 0.30; p = 0.669). Women showed a significant AAMIR decline (AAPC: −0.29%), unlike men (AAPC: 0.07%). Young adults (20–39 years) had rising AAIR (AAPC: 2.42%) and AAMR (0.87%) but improving AAMIR (AAPC: −1.71%). Non-Hispanic Black individuals had the highest AAMIR (0.400 in 2021; AAPC: −0.54%). The Northeast had the most favorable AAMIR trend (AAPC: −0.40%), while the Midwest, South, and West were stable. States like New Jersey and Massachusetts achieved low AAMIR (0.292 and 0.304 in 2021), contrasting with Nebraska and Arizona (0.402 in both). Conclusions: Although colorectal cancer incidence and mortality have declined substantially in the United States from 1999 to 2021, the mortality-to-incidence ratio improved only marginally and remained markedly uneven across subgroups. Targeted interventions—enhancing screening and treatment access for men, racial/ethnic minorities, younger adults, and high-burden regions and states—can promote equitable outcomes. Full article

(This article belongs to the Special Issue Diseases: From Molecular to the Clinical Perspectives)

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13 pages, 3681 KB

Open AccessArticle

T Helper and Cytotoxic T Cells Play an Important Role in Acute Gastric Injury

by Irfan F. Corovic, Jelena M. Pantic, Isidora A. Stanisavljevic, Sladjana M. Pavlovic, Nemanja U. Jovicic, Ivan P. Jovanovic, Gordana D. Radosavljevic and Bojana J. Simovic Markovic

Diseases 2025, 13(11), 374; https://doi.org/10.3390/diseases13110374 - 15 Nov 2025

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Abstract

Background: Inflammation plays a central role in the formation of peptic ulcers, yet the contribution of cellular immunity remains poorly defined. This study aimed to clarify the contribution of cellular immunity to acute gastric mucosal injury. Methods: BALB/c mice received 80% ethanol via oral gavage to induce acute gastric injury. Stomachs were examined macroscopically and histologically, and gastric tissues were analyzed by qPCR, ELISA, and flow cytometry for cytokine expression, immune cell infiltration, and apoptosis. Results: Administration of ethanol exacerbated acute gastric injury in mice, as evidenced by extensive macroscopic lesions and severe disruption of mucosal architecture. This damage was accompanied by marked infiltration of CD11c⁺ dendritic cells, together with an increased frequency of CD86-expressing and IL-12-producing dendritic cells. In addition, there was greater accumulation of both CD4⁺ and CD8⁺ T lymphocytes, including elevated numbers of CD4⁺ and CD8⁺ cells producing IFN-γ and IL-17, as well as CD8⁺CD107a⁺ cytotoxic cells. Alongside these cellular alterations, ethanol exposure was accompanied by elevated levels of pro-inflammatory cytokines (IL-1β, TNF-α, IL-17, and IFN-γ) in gastric tissue. In parallel, ethanol exposure also promoted epithelial cell apoptosis, further contributing to mucosal deterioration. Conclusions: Our findings reveal for the first time that both CD4⁺ and CD8⁺ T cells participate in sterile ethanol-induced acute gastric injury, emphasizing cellular immunity as an important yet insufficiently studied contributor to mucosal damage and highlighting the necessity for further mechanistic and translational research. Full article

(This article belongs to the Special Issue Diseases: From Molecular to the Clinical Perspectives)

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Review

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17 pages, 786 KB

Open AccessReview

First Reported Use of Recombinant Parathyroid Hormone in Kenny–Caffey Syndrome Type 2: A Case Report and Literature Review

by Maja Djordjevic Milosevic, Anita Skakic, Marina Andjelkovic, Angelica Maria Delgado-Vega, Håkan Thonberg, Kristel Klaassen, Jovana Komazec, Bozica Kecman, Nikola Jocic, Erik Björck, Anna Lindstrand and Maja Stojiljkovic

Diseases 2026, 14(3), 91; https://doi.org/10.3390/diseases14030091 - 3 Mar 2026

Viewed by 522

Abstract

Background/Objectives: Hypoparathyroidism (HPT) is a disorder caused by the insufficient production of parathyroid hormone (PTH). Its main features include decreased serum calcium, increased serum phosphorus, and abnormal bone modeling. In children, HPT is most commonly due to genetic disorders. Among rare genetic syndromes that can include HPT in their clinical spectrum is Kenny–Caffey syndrome (KCS) type 2. Conventional therapy for HPT primarily consists of oral calcium and active vitamin D metabolites. The major limitation of conventional therapy is hypercalciuria with an increased risk of nephrocalcinosis. However, a subset of patients fails to achieve the desired therapeutic response to conventional treatment; the reasons for this remain incompletely understood in some cases. The failure to achieve therapeutic targets and persistent hypercalciuria are the main indications for considering therapy with recombinant human parathyroid hormone (rhPTH). Methods: In addition to the review of the literature on rhPTH use in pediatric hypoparathyroidism, the first application of rhPTH in the treatment of genetically caused HPT in a child with Kenny–Caffey syndrome type 2 (KCS2) was described. Results: In this paper, we present a two-month-old infant who received rhPTH for 14 months. A heterozygous de novo p.Ser541Pro variant in the FAM111A gene was identified through whole-genome sequencing, indicating a diagnosis of KCS2. A biological mechanism linking FAM111A protein function with a more profound disruption of parathyroid development or function was proposed, suggesting that rhPTH therapy may be particularly beneficial in KCS2 cases. Conclusions: This is the first reported use of rhPTH in a child in Serbia and the first reported use in KCS type 2. By reviewing the literature, we analyzed the conditions in which rhPTH has been used, dosing approaches and durations, requirements for concomitant conventional therapy during rhPTH treatment, and the effects of rhPTH on calciuria. We provide an overview of rhPTH use in children. Additionally, based on the pathogenic genetic variant responsible for KCS2 in our patient, we propose possible etiologic explanations. This work aims to encourage a consideration of rhPTH use in children following its official approval. Full article

(This article belongs to the Special Issue Diseases: From Molecular to the Clinical Perspectives)

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Other

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20 pages, 1287 KB

Open AccessSystematic Review

Neuromodulatory Interventions in Experimental Acute Pancreatitis: A Systematic Review of Rodent Studies

by Maxim Rantsev, Alexey Sarapultsev and Valeriy Chereshnev

Diseases 2026, 14(4), 145; https://doi.org/10.3390/diseases14040145 - 16 Apr 2026

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Abstract

Background/Objectives: Acute pancreatitis (AP) lacks disease-modifying pharmacotherapy. Neuroimmune, serotonergic, and redox-regulated pathways may modulate inflammatory amplification and acinar injury, although pharmacovigilance data link some psychotropic drug classes to AP risk. This review synthesized controlled rodent studies evaluating neuromodulatory interventions with serotonergic, stress-axis, or ferroptosis-linked targets in experimental AP. Methods: PubMed, Scopus, eLIBRARY.ru, and Elicit were searched in January 2026, supplemented by Google Scholar audit and citation chasing. Eligible studies were controlled in vivo rodent experiments using validated AP models with quantitative outcomes. Intervention timing was classified a priori as a primary analytic variable. Risk of bias was assessed with SYRCLE. A prespecified audit showed that no subset met the criteria for quantitative pooling because of heterogeneity in model class, compounds, timing, outcome definitions, units, and sampling timepoints. Mechanism-stratified qualitative synthesis was therefore performed. The protocol was registered on OSF (doi: 10.17605/OSF.IO/CZXDJ). Results: Nine studies (1992–2023) yielded 410 outcome rows across three mechanistic strands. Serotonergic modulation (5-HT₂/5-HT₂A-focused; six studies) reduced serum amylase/lipase (−37% to −65% vs. disease controls) and histological injury, with receptor-selectivity data supporting 5-HT₂A-mediated mechanisms. Stress-axis modulation with thiadiazine L-17 reduced 7-day mortality in two severe models (from 50–70% to 30%). Olanzapine attenuated ferroptosis-linked injury via off-target antioxidant activity independent of serotonergic receptors. All interventions were prophylactic, peri-induction, or very early post-induction; no delayed therapeutic-window studies were identified. Most SYRCLE domains were unclear, particularly allocation concealment and blinding-related procedures. Conclusions: Neuromodulatory pathways modulate experimental AP in rodents, but evidentiary strength differs across mechanistic strands. Inference is constrained by absent therapeutic-window testing, heterogeneous endpoints, and reporting deficits. The findings support mechanism-level target prioritization rather than clinical repurposing. Full article

(This article belongs to the Special Issue Diseases: From Molecular to the Clinical Perspectives)

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23 pages, 2391 KB

Open AccessSystematic Review

Regional Cerebral Oxygen Saturation and Risk of Delirium: A Systematic Review and Meta-Analysis

by Begoña Rochina-Rodríguez, Francisco Miguel Martínez-Arnau and Pilar Pérez-Ros

Diseases 2025, 13(12), 383; https://doi.org/10.3390/diseases13120383 - 25 Nov 2025

Cited by 1 | Viewed by 1389

Abstract

Background: Delirium onset is associated with increased comorbidity and mortality. Identifying reliable delirium biomarkers remains challenging. Regional cerebral oxygen saturation (rSO₂) offers an objective, easily obtainable measure suitable for hospital monitoring. Objective: We aimed to analyse the relationship between regional cerebral oxygen saturation (rSO₂) values obtained by near-infrared spectroscopy (NIRS) and the subsequent development of delirium. Methods: Studies eligible for inclusion in our systematic review evaluated rSO₂ values obtained by NIRS or a used a similar method to study hospitalised patients aged 18 years or older, some of whom subsequently developed delirium. We searched MEDLINE, Scopus and Web of Science without restrictions to 24 March 2024. Two review authors independently assessed the methodological quality of the included studies using Joanna Briggs Institute Critical Appraisal tools. Using a random-effects model in RevMan v 5.4.0 (Cochrane Collaboration, Oxford, UK), we analysed baseline and minimum rSO₂ values. Results were presented as means and mean differences (MDs) with their 95% confidence intervals (CIs). We followed PRISMA guidelines and registered our review protocol in PROSPERO (CRD42024523573). Results (or Findings): We included 22 studies (20 in the meta-analysis) published between 2009 and 2024 and involving 5757 participants. The delirium group had a lower mean baseline rSO₂ value (62.47%, 95% CI 58.40 to 66.55) compared with the non-delirium group (64.24%, 95% CI 61.33 to 67.15). Meta-analysis of effect estimates confirmed this result (MD −2.92%, 95% CI −4.38 to −1.47). The MD between the delirium and non-delirium group was larger among patients assessed with the INVOS device and patients who underwent cardiac surgery. Studies that analysed baseline values according to sensor location showed a larger MD in rSO₂ values obtained via a right-sided sensor. Conclusions: Our results show lower baseline and minimum rSO₂ in hospitalised patients who subsequently developed delirium. The difference varies according to the type of surgery and type of NIRS monitor. Full article

(This article belongs to the Special Issue Diseases: From Molecular to the Clinical Perspectives)

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