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.
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 18.8 days after submission; acceptance to publication is undertaken in 2.6 days (median values for papers published in this journal in the second half of 2023).
- 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 7 topical sections.
Impact Factor:
3.7 (2022)
Latest Articles
Innovative Drug Modalities for the Treatment of Advanced Prostate Cancer
Diseases 2024, 12(5), 87; https://doi.org/10.3390/diseases12050087 - 02 May 2024
Abstract
Prostate cancer, a prevalent malignancy affecting the prostate gland, is a significant global health concern. Androgen-deprivation therapy (ADT) has proven effective in controlling advanced disease, with over 50% of patients surviving at the 10-year mark. However, a diverse spectrum of responses exists, and
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Prostate cancer, a prevalent malignancy affecting the prostate gland, is a significant global health concern. Androgen-deprivation therapy (ADT) has proven effective in controlling advanced disease, with over 50% of patients surviving at the 10-year mark. However, a diverse spectrum of responses exists, and resistance to ADT may emerge over time. This underscores the need to explore innovative treatment strategies for effectively managing prostate cancer progression. Ongoing research endeavors persist in unraveling the complexity of prostate cancer and fostering the development of biologic and innovative approaches, including immunotherapies and targeted therapies. This review aims to provide a valuable synthesis of the dynamic landscape of emerging drug modalities in this context. Interestingly, the complexities posed by prostate cancer not only present a formidable challenge but also serve as a model and an opportunity for translational research and innovative therapies in the field of oncology.
Full article
Open AccessCase Report
Surgical Treatment of Lithiasis of the Main Pancreatic Duct: A Challenging Case and a Literature Review
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Dan Brebu, Cătălin Prodan-Bărbulescu, Vlad Braicu, Paul Pașca, George Borcean, Sabrina Florea, Clarisa Bîrlog, Amadeus Dobrescu, Mărioara Cornianu, Fulger Lazăr, Bogdan Totolici, Ciprian Duță and Flaviu Ionuț Faur
Diseases 2024, 12(5), 86; https://doi.org/10.3390/diseases12050086 - 30 Apr 2024
Abstract
Pancreaticolithiasis represents a rare phenomenon, being superimposed most of the time on a form of chronic pancreatitis of multifactorial etiology. Pancreaticolithiasis is a late complication of the phenomenon of chronic pancreatitis. The reverberant inflammatory process, followed by the fibrotic degeneration of the pancreatic
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Pancreaticolithiasis represents a rare phenomenon, being superimposed most of the time on a form of chronic pancreatitis of multifactorial etiology. Pancreaticolithiasis is a late complication of the phenomenon of chronic pancreatitis. The reverberant inflammatory process, followed by the fibrotic degeneration of the pancreatic parenchyma, and pancreatic fluid stasis at the ductal level are factors that contribute to the phenomenon of calcium precipitation. This article describes the case of a patient with a diagnosis of pancreaticolithiasis (Wirsung duct lithiasis), a phenomenon superimposed on chronic pancreatitis of ethanolic cause (Rosemont classification). It was decided to perform surgery via the classical approach with the perfection of corporeo-caudal pancreatectomy and preservation of the splenic vessels (Kimura procedure) with pancreatico-jejunal anastomosis on the Roux-en-Y loop. The aim of this study is to identify the best method of treatment for pancreaticolithiasis. To enhance the case and provide a basis for standardization, a literature review was carried out, which included a total of six articles. The results of this study highlight that, currently, the management of symptomatic pancreaticolithiasis encompasses medical therapy (enzyme replacement therapy), interventional therapy (ESWL (extracorporeal shock wave lithotripsy) ± ERCP (endoscopic retrograde cholangiopancreatography), ERCP + sphincterotomy + stent insertion, and POP (oral pancreatoscopy)), and surgical treatment. In conclusion, based on the analysis conducted in this study, the size of the calculi present determines which is the suitable therapeutic care. Unlike stones over 0.5 cm, when surgery is explicitly advised for therapeutic purposes in the absence of endoscopic techniques, stones under 0.5 cm should be treated using endoscopic procedures.
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(This article belongs to the Section Gastroenterology)
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Open AccessArticle
Effects of High-Dose Cyclophosphamide on Ultrastructural Changes and Gene Expression Profiles in the Cardiomyocytes of C57BL/6J Mice
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Takuro Nishikawa, Emiko Miyahara, Ieharu Yamazaki, Kazuro Ikawa, Shunsuke Nakagawa, Yuichi Kodama, Yoshifumi Kawano and Yasuhiro Okamoto
Diseases 2024, 12(5), 85; https://doi.org/10.3390/diseases12050085 - 27 Apr 2024
Abstract
The pathogenesis of cyclophosphamide (CY)-induced cardiotoxicity remains unknown, and methods for its prevention have not been established. To elucidate the acute structural changes that take place in myocardial cells and the pathways leading to myocardial damage under high-dose CY treatments, we performed detailed
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The pathogenesis of cyclophosphamide (CY)-induced cardiotoxicity remains unknown, and methods for its prevention have not been established. To elucidate the acute structural changes that take place in myocardial cells and the pathways leading to myocardial damage under high-dose CY treatments, we performed detailed pathological analyses of myocardial tissue obtained from C57BL/6J mice subjected to a high-dose CY treatment. Additionally, we analysed the genome-wide cardiomyocyte expression profiles of mice subjected to the high-dose CY treatment. Treatment with CY (400 mg/kg/day intraperitoneally for two days) caused marked ultrastructural aberrations, as observed using electron microscopy, although these aberrations could not be observed using optical microscopy. The expansion of the transverse tubule and sarcoplasmic reticulum, turbulence in myocardial fibre travel, and a low contractile protein density were observed in cardiomyocytes. The high-dose CY treatment altered the cardiomyocyte expression of 1210 genes (with 675 genes upregulated and 535 genes downregulated) associated with cell–cell junctions, inflammatory responses, cardiomyopathy, and cardiac muscle function, as determined using microarray analysis (|Z-score| > 2.0). The expression of functionally important genes related to myocardial contraction and the regulation of calcium ion levels was validated using real-time polymerase chain reaction analysis. The results of the gene expression profiling, functional annotation clustering, and Kyoto Encyclopedia of Genes and Genomes pathway functional-classification analysis suggest that CY-induced cardiotoxicity is associated with the disruption of the Ca2+ signalling pathway.
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(This article belongs to the Section Oncology)
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Open AccessBrief Report
Immunohistochemistry as a Reliable Tool for the Diagnosis of Cystic Echinococcosis in Patients from Sardinia, Italy—A Confirmatory Study
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Cinzia Santucciu, Angela Peruzzu, Antonella Maria Fara, Antonio Cossu, Philipp A. Kronenberg, Peter Deplazes and Giovanna Masala
Diseases 2024, 12(5), 84; https://doi.org/10.3390/diseases12050084 - 26 Apr 2024
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Cystic Echinococcosis (CE) is a zoonotic disease caused by the larval stage of the tapeworm Echinococcus granulosus sensu lato (s.l.). This study aims to investigate the use of two monoclonal antibodies (mAbEmG3 and mAbEm2G11) by immunohistochemistry (IHC) to confirm the diagnosis of
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Cystic Echinococcosis (CE) is a zoonotic disease caused by the larval stage of the tapeworm Echinococcus granulosus sensu lato (s.l.). This study aims to investigate the use of two monoclonal antibodies (mAbEmG3 and mAbEm2G11) by immunohistochemistry (IHC) to confirm the diagnosis of CE in human patients, in particular in those cases in which other techniques fail to provide a correct or conclusive diagnosis. For this purpose, a survey on 13 patients was performed. These subjects were referred to Sardinian hospitals (Italy) from 2017 to 2022 and were suspected to be affected by CE. Our findings from these 13 patients showed the detection of E. granulosus sensu stricto by IHC in 12 of 13 echinococcal cysts, as one sample was of a non-parasitological origin. The results confirmed that IHC, by means of the mAbEmG3 and mAbEm2G11, is a reliable diagnostic tool that showed a very high performances when tested on strain of E. granulosus s.l. from Sardinia.
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Open AccessArticle
Ocular Tics and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS)
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Stefano Dore, Daniele Satta, Angelo Zinellu, Giacomo Boscia, Arturo Carta, Mario Fruschelli, Rita Serra and Antonio Pinna
Diseases 2024, 12(5), 83; https://doi.org/10.3390/diseases12050083 - 25 Apr 2024
Abstract
Little is known about ocular tics in Pediatric Autoimmune Neuropsychiatric Disorders associated with Streptococcal infections (PANDAS). In this retrospective study, we examined the clinical records of children with motor tics referred to the Ophthalmology Unit, Azienda Ospedaliero-Universitaria di Sassari, Italy, in 2010–2019. The
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Little is known about ocular tics in Pediatric Autoimmune Neuropsychiatric Disorders associated with Streptococcal infections (PANDAS). In this retrospective study, we examined the clinical records of children with motor tics referred to the Ophthalmology Unit, Azienda Ospedaliero-Universitaria di Sassari, Italy, in 2010–2019. The presence of ocular tics was investigated. Data about antistreptolysin O (ASO) and anti-DNase B antibody titers, erythrocyte sedimentation rate (ESR), plasma C-reactive protein (CRP), and antibiotic use were recorded. Forty children (thirty-four boys and six girls; mean age: 7.65 ± 2.5 years) with motor tics were identified; thirty-three (82.5%) showed ocular tics. Children with ocular tics had significantly higher titers of anti-DNase B antibodies (p = 0.04) and CRP (p = 0.016) than those with extraocular tics. A diagnosis of PANDAS was made in 24 (60%) children. PANDAS children with oculomotor tics had significantly higher titers of anti-DNase B antibodies (p = 0.05) than those with extraocular tics. Oral antibiotics were given to 25/33 (76%) children with ocular tics and 21/24 (87.5%) with PANDAS. All treated patients showed marked improvement/complete resolution of symptoms. Results suggest that higher titers of anti-DNase B antibodies may be implicated in the pathogenesis of ocular tics in PANDAS. Oral antibiotics may be beneficial in improving ocular tics. Further research is necessary to confirm our findings.
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(This article belongs to the Topic Children’s Diseases, Family Management, and Quality of Life)
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Open AccessSystematic Review
The Influence of Personality Traits on Postpartum Depression: A Systematic Review Based on the NEO-FFI Scale
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Oana Neda-Stepan, Cătălina Giurgi-Oncu, Andreea Sălcudean, Elena Bernad, Brenda-Cristiana Bernad and Virgil Radu Enătescu
Diseases 2024, 12(5), 82; https://doi.org/10.3390/diseases12050082 - 25 Apr 2024
Abstract
Postpartum depression (PPD) is a significant global health concern with profound implications for mothers, families, and societies. This systematic review aims to synthesize current research findings to understand better how personality traits, as assessed by the NEO Five-Factor Inventory (NEO-FFI), contribute to the
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Postpartum depression (PPD) is a significant global health concern with profound implications for mothers, families, and societies. This systematic review aims to synthesize current research findings to understand better how personality traits, as assessed by the NEO Five-Factor Inventory (NEO-FFI), contribute to the development and progression of PPD. Conducted in January 2024, this review searched major databases like PubMed, PsycINFO, and Scopus up to December 2023, focusing on the NEO-FFI’s role in evaluating PPD. Following PRISMA guidelines, studies were selected based on strict criteria, including the exclusive use of NEO-FFI for personality assessment and a focus on postpartum women. A total of seven studies were included after a rigorous two-step screening process, and their data were qualitatively synthesized. The review covered a total of 4172 participants, with a prevalence of clinically significant postpartum depression symptoms ranging from 10.6% to 51.7%. Notably, Neuroticism emerged as a significant predictor of PPD, with odds ratios ranging from 1.07 (95% CI: 0.96–1.20) in some studies to as high as 1.87 (95% CI: 1.53–2.27) in others. In contrast, traits like Extraversion and Conscientiousness generally showed protective effects, with lower scores associated with reduced PPD risk. For instance, Extraversion scores correlated negatively with PPD risk (Beta = −0.171) in one study. However, the impact of other traits such as Openness and Agreeableness on PPD risk was less clear, with some studies indicating negligible effects. The review highlights Neuroticism as a consistent and significant predictor of PPD risk, with varying impacts from other personality traits. The findings suggest potential pathways for targeted interventions in maternal mental health care, emphasizing the need for comprehensive personality evaluations in prenatal and postnatal settings.
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(This article belongs to the Special Issue Multidisciplinarity and Interdisciplinary Basics in Mental Health)
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Open AccessReview
Target Role of Monocytes as Key Cells of Innate Immunity in Rheumatoid Arthritis
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Diana I. Salnikova, Nikita G. Nikiforov, Anton Y. Postnov and Alexander N. Orekhov
Diseases 2024, 12(5), 81; https://doi.org/10.3390/diseases12050081 - 25 Apr 2024
Abstract
Rheumatoid arthritis (RA) is a chronic, systemic, and inflammatory autoimmune condition characterized by synovitis, pannus formation (with adjacent bone erosion), and joint destruction. In the perpetuation of RA, fibroblast-like synoviocytes (FLSs), macrophages, B cells, and CD4+ T-cells—specifically Th1 and Th17 cells—play crucial
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Rheumatoid arthritis (RA) is a chronic, systemic, and inflammatory autoimmune condition characterized by synovitis, pannus formation (with adjacent bone erosion), and joint destruction. In the perpetuation of RA, fibroblast-like synoviocytes (FLSs), macrophages, B cells, and CD4+ T-cells—specifically Th1 and Th17 cells—play crucial roles. Additionally, dendritic cells, neutrophils, mast cells, and monocytes contribute to the disease progression. Monocytes, circulating cells primarily derived from the bone marrow, participate in RA pathogenesis. Notably, CCR2 interacts with CCL2, and CX3CR1 (expressed by monocytes) cooperates with CX3CL1 (produced by FLSs), facilitating the migration involved in RA. Canonical “classical” monocytes predominantly acquire the phenotype of an “intermediate” subset, which differentially expresses proinflammatory cytokines (IL-1β, IL-6, and TNF) and surface markers (CD14, CD16, HLA-DR, TLRs, and β1- and β2-integrins). However, classical monocytes have greater potential to differentiate into osteoclasts, which contribute to bone resorption in the inflammatory milieu; in RA, Th17 cells stimulate FLSs to produce RANKL, triggering osteoclastogenesis. This review aims to explore the monocyte heterogeneity, plasticity, antigenic expression, and their differentiation into macrophages and osteoclasts. Additionally, we investigate the monocyte migration into the synovium and the role of their cytokines in RA.
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(This article belongs to the Topic Inflammation: The Cause of all Diseases 2.0)
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Open AccessCommunication
Role of B Cells beyond Antibodies in HBV-Induced Oncogenesis: Fulminant Cancer in Common Variable Immunodeficiency—Clinical and Immunotransplant Implications with a Review of the Literature
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Przemyslaw Zdziarski and Andrzej Gamian
Diseases 2024, 12(5), 80; https://doi.org/10.3390/diseases12050080 - 23 Apr 2024
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Although lymphoma is the most frequent malignancy in common variable immunodeficiency (CVID), solid tumors, especially affected by oncogenic viruses, are not considered. Furthermore, in vitro genetic studies and cell cultures are not adequate for immune system and HBV interaction. We adopted a previously
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Although lymphoma is the most frequent malignancy in common variable immunodeficiency (CVID), solid tumors, especially affected by oncogenic viruses, are not considered. Furthermore, in vitro genetic studies and cell cultures are not adequate for immune system and HBV interaction. We adopted a previously introduced clinical model of host–virus interaction (i.e., infectious process in immunodeficiency) for analysis of B cells and the specific IgG role (an observational study of a CVID patient who received intravenous immunoglobulin (IVIG). Suddenly, the patient deteriorated and a positive results of for HBs and HBV-DNA (369 × 106 copies) were detected. Despite lamivudine therapy and IVIG escalation (from 0.3 to 0.4 g/kg), CT showed an 11 cm intrahepatic tumor (hepatocellular carcinoma). Anti-HBs were positive in time-lapse analysis (range 111–220 IU/mL). Replacement therapy intensification was complicated by an immune complex disease with renal failure. Fulminant HCC in CVID and the development of a tumor as the first sign is of interest. Unfortunately, treatment with hepatitis B immune globulins (HBIG) plays a major role in posttransplant maintenance therapy. Anti-HB substitution has not been proven to be effective, oncoprotective, nor safe. Therefore, immunosuppression in HBV-infected recipients should be carefully minimized, and patient selection more precise with the exclusion of HBV-positive donors. Our clinical model showed an HCC pathway with important humoral host factors, contrary to epidemiological/cohort studies highlighting risk factors only (e.g., chronic hepatitis). The lack of cell cooperation as well as B cell deficiency observed in CVID play a crucial role in high HBV replication, especially in carcinogenesis.
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Graphical abstract
Open AccessSystematic Review
Impact of Systemic Treatments on Outcomes and Quality of Life in Patients with RAS-Positive Stage IV Colorectal Cancer: A Systematic Review
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Vlad Braicu, Pantea Stelian, Lazar Fulger, Gabriel Verdes, Dan Brebu, Ciprian Duta, Camelia Fizedean, Flavia Ignuta, Alexandra Ioana Danila and Gabriel Veniamin Cozma
Diseases 2024, 12(4), 79; https://doi.org/10.3390/diseases12040079 - 20 Apr 2024
Abstract
This systematic review critically evaluates the impact of systemic treatments on outcomes and quality of life (QoL) in patients with RAS-positive stage IV colorectal cancer, with studies published up to December 2023 across PubMed, Scopus, and Web of Science. From an initial pool
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This systematic review critically evaluates the impact of systemic treatments on outcomes and quality of life (QoL) in patients with RAS-positive stage IV colorectal cancer, with studies published up to December 2023 across PubMed, Scopus, and Web of Science. From an initial pool of 1345 articles, 11 relevant studies were selected for inclusion, encompassing a diverse range of systemic treatments, including panitumumab combined with FOLFOX4 and FOLFIRI, irinotecan paired with panitumumab, regorafenib followed by cetuximab ± irinotecan and vice versa, and panitumumab as a maintenance therapy post-induction. Patient demographics predominantly included middle-aged to elderly individuals, with a slight male predominance. Racial composition, where reported, showed a majority of Caucasian participants, highlighting the need for broader demographic inclusivity in future research. Key findings revealed that the addition of panitumumab to chemotherapy (FOLFOX4 or FOLFIRI) did not significantly compromise QoL while notably improving disease-free survival, with baseline EQ-5D HSI mean scores ranging from 0.76 to 0.78 and VAS mean scores from 70.1 to 74.1. Improvements in FACT-C scores and EQ-5D Index scores particularly favored panitumumab plus best supportive care in KRAS wild-type mCRC, with early dropout rates of 38–42% for panitumumab + BSC. Notably, cetuximab + FOLFIRI was associated with a median survival of 25.7 months versus 16.4 months for FOLFIRI alone, emphasizing the potential benefits of integrating targeted therapies with chemotherapy. In conclusion, the review underscores the significant impact of systemic treatments, particularly targeted therapies and their combinations with chemotherapy, on survival outcomes and QoL in patients with RAS-positive stage IV colorectal cancer, and the need for personalized treatment.
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(This article belongs to the Special Issue Multidisciplinarity and Interdisciplinary Basics in Mental Health)
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Open AccessArticle
An Exploratory Assessment of Pre-Treatment Inflammatory Profiles in Gastric Cancer Patients
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Catalin Vladut Ionut Feier, Calin Muntean, Alaviana Monique Faur, Razvan Constantin Vonica, Andiana Roxana Blidari, Marius-Sorin Murariu and Sorin Olariu
Diseases 2024, 12(4), 78; https://doi.org/10.3390/diseases12040078 - 16 Apr 2024
Abstract
Gastric cancer ranks as the fifth most common cancer, and the assessment of inflammatory biomarkers in these patients holds significant promise in predicting prognosis. Therefore, data from patients undergoing surgical intervention for gastric cancer over a 7-year period were analyzed. This study was
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Gastric cancer ranks as the fifth most common cancer, and the assessment of inflammatory biomarkers in these patients holds significant promise in predicting prognosis. Therefore, data from patients undergoing surgical intervention for gastric cancer over a 7-year period were analyzed. This study was retrospective and involved a preoperative investigation of six inflammatory parameters derived from complete blood counts. Statistical analysis revealed a significant increase in the leucocyte-to-monocyte ratio (LMR) (p = 0.048), along with a significant decrease in the number of lymphocytes and monocytes compared to patients with successful discharge. Taking into consideration patients undergoing emergency surgery, a significant increase in the LMR (p = 0.009), neutrophil-to-lymphocyte ratio (NLR) (p = 0.004), Aggregate Index of Systemic Inflammation (AISI) (p = 0.01), and Systemic Immune-Inflammation Index (SII) (p = 0.028) was observed. Regarding relapse, these patients exhibited significant increases in AISI (p = 0.032) and SII (p = 0.047). Inflammatory biomarkers represent a valuable tool in evaluating and predicting the prognosis of patients with gastric cancer.
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(This article belongs to the Section Oncology)
Open AccessSystematic Review
Systematic Review on the Effectiveness and Outcomes of Nivolumab Treatment Schemes in Advanced and Metastatic Cervical Cancer
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Ion Petre, Corina Vernic, Izabella Petre, Cristian Sebastian Vlad, Simona Ioana Sipos, Anca Bordianu, Marc Luciana, Radu Dumitru Dragomir, Camelia Melania Fizedean and Cristina Vlad Daliborca
Diseases 2024, 12(4), 77; https://doi.org/10.3390/diseases12040077 - 15 Apr 2024
Abstract
Advanced and metastatic cervical cancer remains a formidable challenge in oncology, with immune checkpoint inhibitors such as the PD-1 inhibitor nivolumab emerging as a potential therapeutic option. This systematic review rigorously assesses the effectiveness and outcomes of various nivolumab treatment regimens within this
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Advanced and metastatic cervical cancer remains a formidable challenge in oncology, with immune checkpoint inhibitors such as the PD-1 inhibitor nivolumab emerging as a potential therapeutic option. This systematic review rigorously assesses the effectiveness and outcomes of various nivolumab treatment regimens within this patient cohort, drawing from clinical trials and real-world evidence up to December 2023. Following a comprehensive search across PubMed, Scopus, and Embase, four studies were deemed eligible, involving a collective total of 80 patients. One preliminary trial data were excluded from the final analysis, as well as four other proceedings and abstracts on the efficacy and safety of nivolumab on advanced cervical cancer. The patients’ average age across these studies was 48 years, with an average of 38% having an Eastern Cooperative Oncology Group (ECOG) performance status of 1. Notably, 64% of all patients were positive for high-risk HPV, and 71% exhibited PD-L1 positivity, indicating a substantial target population for nivolumab. The analysis revealed a pooled objective response rate (ORR) of 48%, with a disease control rate (DCR) averaging 71%. Moreover, progression-free survival (PFS) at 6 months was observed at an average rate of 50%, reflecting the significant potential of nivolumab in managing advanced stages of the disease. The review highlights the influence of PD-L1 status on response rates and underscores the enhanced outcomes associated with combination therapy approaches. By delineating the variability in treatment efficacy and pinpointing key factors affecting therapeutic response and survival, this systematic review calls for further investigations to refine nivolumab’s clinical application, aiming to improve patient outcomes in advanced and metastatic cervical cancer.
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(This article belongs to the Section Oncology)
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Open AccessArticle
Efficacy and Safety of Plasma Rich in Growth Factor in Patients with Congenital Aniridia and Dry Eye Disease
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Javier Lozano-Sanroma, Alberto Barros, Ignacio Alcalde, Rosa Alvarado-Villacorta, Ronald M. Sánchez-Ávila, Juan Queiruga-Piñeiro, Luis Fernández-Vega Cueto, Eduardo Anitua and Jesús Merayo-Lloves
Diseases 2024, 12(4), 76; https://doi.org/10.3390/diseases12040076 - 11 Apr 2024
Abstract
Congenital aniridia is a rare bilateral ocular malformation characterized by the partial or complete absence of the iris and is frequently associated with various anomalies, including keratopathy, cataract, glaucoma, and foveal and optic nerve hypoplasia. Additionally, nearly 50% of individuals with congenital aniridia
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Congenital aniridia is a rare bilateral ocular malformation characterized by the partial or complete absence of the iris and is frequently associated with various anomalies, including keratopathy, cataract, glaucoma, and foveal and optic nerve hypoplasia. Additionally, nearly 50% of individuals with congenital aniridia experience symptoms of ocular dryness. Traditional treatment encompasses artificial tears and autologous serum. This study aimed to assess the effectiveness and safety of using platelet rich in growth factors (PRGF) plasma in patients with congenital aniridia and ocular dryness symptoms. Methods: The included patients underwent two cycles of a 3-month PRGF treatment. At 6 months, symptomatology was evaluated using the OSDI and SANDE questionnaires, and ocular surface parameters were analyzed. Results: The OSDI and SANDE values for frequency and severity demonstrated statistically significant improvements (p < 0.05). Ocular redness, corneal damage (corneal staining), and tear volume (Schirmer test) also exhibited statistically significant improvements (p < 0.05). No significant changes were observed in visual acuity or in the grade of meibomian gland loss. Conclusion: The use of PRGF in patients with congenital aniridia and ocular dryness symptoms led to significant improvements in symptomatology, ocular redness, and ocular damage. No adverse effects were observed during the use of PRGF.
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(This article belongs to the Section Rare Syndrome)
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Open AccessCase Report
Negative Outcomes of Blepharoplasty and Thyroid Disorders: Is Compensation Always Due? A Case Report with a Literature Review
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Beatrice Defraia, Martina Focardi, Simone Grassi, Giulia Chiavacci, Simone Faccioli, Gianmaria Federico Romano, Ilenia Bianchi, Vilma Pinchi and Alessandro Innocenti
Diseases 2024, 12(4), 75; https://doi.org/10.3390/diseases12040075 - 10 Apr 2024
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Background: Plastic surgery is one of the medical specialties with the highest risk of recurrent medical malpractice claims. The frequency of civil lawsuits represents an issue for the micro- and macro-economy of practitioners of these health treatments. This paper aims to discuss the
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Background: Plastic surgery is one of the medical specialties with the highest risk of recurrent medical malpractice claims. The frequency of civil lawsuits represents an issue for the micro- and macro-economy of practitioners of these health treatments. This paper aims to discuss the medico-legal aspects and claim path in a case of a cosmetic blepharoplasty complicated by lagophthalmos wrongly related to the procedure but due to missed hyperthyroidism. Case Description and Literature Review: A 48-year-old woman who underwent cosmetic blepharoplasty with undiagnosed hyperthyroidism claimed that the lagophthalmos that occurred some months after the procedure was due to medical malpractice, due to an over-resection of the exuberant lower eyelid tissue. The review question was, “Are thyroid disfunctions usually considered contraindications to be communicated to patients who undergo blepharoplasty?”, and the databases MEDLINE via PubMed, Embase, Scopus, Ovid, ISI Web of Science, Cochrane, and Google Scholar were used. Results and Discussion: There were 21 eligible papers. The case highlights the importance and complexity of causal inference (such as unknown thyroid dysfunctions), related informed consent involving information on possible complications unrelated to malpractice, and guidelines recommending endocrinological consultation for cosmetic/functional blepharoplasty in patients at risk (e.g., female patients with a known history of thyroid disease).
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Open AccessSystematic Review
The Impact of COVID-19 on Amputation and Mortality Rates in Patients with Acute Limb Ischemia: A Systematic Review and Meta-Analysis
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Lelio Crupi, Alessio Ardizzone, Fabrizio Calapai, Sarah Adriana Scuderi, Filippo Benedetto, Emanuela Esposito and Anna Paola Capra
Diseases 2024, 12(4), 74; https://doi.org/10.3390/diseases12040074 - 07 Apr 2024
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Since the inception of the SARS-CoV-2 pandemic, healthcare systems around the world observed an increased rate of Acute Limb Ischemia (ALI) in patients with a COVID-19 infection. Despite several pieces of evidence suggesting that COVID-19 infection may also worsen the prognosis associated with
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Since the inception of the SARS-CoV-2 pandemic, healthcare systems around the world observed an increased rate of Acute Limb Ischemia (ALI) in patients with a COVID-19 infection. Despite several pieces of evidence suggesting that COVID-19 infection may also worsen the prognosis associated with ALI, only a small number of published studies include a direct comparison regarding the outcomes of both COVID-19 and non-COVID-19 ALI patients. Based on the above, a systematic review and a meta-analysis of the literature were conducted, evaluating differences in the incidence of two major outcomes (amputation and mortality rate) between patients concurrently affected by COVID-19 and negative ALI subjects. PubMed (MEDLINE), Web of Science, and Embase (OVID) databases were scrutinized from January 2020 up to 31 December 2023, and 7906 total articles were recovered. In total, 11 studies (n: 15,803 subjects) were included in the systematic review, and 10 of them (15,305 patients) were also included in the meta-analysis. Across all the studies, COVID-19-positive ALI patients experienced worse outcomes (mortality rates ranging from 6.7% to 47.2%; amputation rates ranging from 7.0% to 39.1%) compared to non-infected ALI patients (mortality rates ranging from 3.1% to 16.7%; amputation rates ranging from 2.7% to 18%). Similarly, our meta-analysis shows that both the amputation rate (OR: 2.31; 95% CI: 1.68–3.17; p < 0.00001) and mortality (OR: 3.64; 95% CI: 3.02–4.39; p < 0.00001) is significantly higher in COVID-19 ALI patients compared to ALI patients.
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Open AccessArticle
A Framework for Assessing the Impact of Outbreak Response Immunization Programs
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Dominic Delport, Ben Sanderson, Rachel Sacks-Davis, Stefanie Vaccher, Milena Dalton, Rowan Martin-Hughes, Tewodaj Mengistu, Dan Hogan, Romesh Abeysuriya and Nick Scott
Diseases 2024, 12(4), 73; https://doi.org/10.3390/diseases12040073 - 04 Apr 2024
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The impact of outbreak response immunization (ORI) can be estimated by comparing observed outcomes to modelled counterfactual scenarios without ORI, but the most appropriate metrics depend on stakeholder needs and data availability. This study developed a framework for using mathematical models to assess
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The impact of outbreak response immunization (ORI) can be estimated by comparing observed outcomes to modelled counterfactual scenarios without ORI, but the most appropriate metrics depend on stakeholder needs and data availability. This study developed a framework for using mathematical models to assess the impact of ORI for vaccine-preventable diseases. Framework development involved (1) the assessment of impact metrics based on stakeholder interviews and literature reviews determining data availability and capacity to capture as model outcomes; (2) mapping investment in ORI elements to model parameters to define scenarios; (3) developing a system for engaging stakeholders and formulating model questions, performing analyses, and interpreting results; and (4) example applications for different settings and pathogens. The metrics identified as most useful were health impacts, economic impacts, and the risk of severe outbreaks. Scenario categories included investment in the response scale, response speed, and vaccine targeting. The framework defines four phases: (1) problem framing and data sourcing (identification of stakeholder needs, metrics, and scenarios); (2) model choice; (3) model implementation; and (4) interpretation and communication. The use of the framework is demonstrated by application to two outbreaks, measles in Papua New Guinea and Ebola in the Democratic Republic of the Congo. The framework is a systematic way to engage with stakeholders and ensure that an analysis is fit for purpose, makes the best use of available data, and uses suitable modelling methodology.
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Open AccessReview
Sepsis-Related Lung Injury and the Complication of Extrapulmonary Pneumococcal Pneumonia
by
Samuel Darkwah, Fleischer C. N. Kotey, John Ahenkorah, Kevin Kofi Adutwum-Ofosu and Eric S. Donkor
Diseases 2024, 12(4), 72; https://doi.org/10.3390/diseases12040072 - 03 Apr 2024
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Globally, sepsis and pneumonia account for significant mortality and morbidity. A complex interplay of immune-molecular pathways underlies both sepsis and pneumonia, resulting in similar and overlapping disease characteristics. Sepsis could result from unmanaged pneumonia. Similarly, sepsis patients have pneumonia as a common complication
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Globally, sepsis and pneumonia account for significant mortality and morbidity. A complex interplay of immune-molecular pathways underlies both sepsis and pneumonia, resulting in similar and overlapping disease characteristics. Sepsis could result from unmanaged pneumonia. Similarly, sepsis patients have pneumonia as a common complication in the intensive care unit. A significant percentage of pneumonia is misdiagnosed as septic shock. Therefore, our knowledge of the clinical relationship between pneumonia and sepsis is imperative to the proper management of these syndromes. Regarding pathogenesis and etiology, pneumococcus is one of the leading pathogens implicated in both pneumonia and sepsis syndromes. Growing evidence suggests that pneumococcal pneumonia can potentially disseminate and consequently induce systemic inflammation and severe sepsis. Streptococcus pneumoniae could potentially exploit the function of dendritic cells (DCs) to facilitate bacterial dissemination. This highlights the importance of pathogen-immune cell crosstalk in the pathophysiology of sepsis and pneumonia. The role of DCs in pneumococcal infections and sepsis is not well understood. Therefore, studying the immunologic crosstalk between pneumococcus and host immune mediators is crucial to elucidating the pathophysiology of pneumonia-induced lung injury and sepsis. This knowledge would help mitigate clinical diagnosis and management challenges.
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Open AccessReview
Effect of Different Exercise Interventions on Grip Strength, Knee Extensor Strength, Appendicular Skeletal Muscle Index, and Skeletal Muscle Index Strength in Patients with Sarcopenia: A Meta-Analysis of Randomized Controlled Trials
by
Xinxiang Wang, Lijuan Wang, Yu Wu, Ming Cai and Liyan Wang
Diseases 2024, 12(4), 71; https://doi.org/10.3390/diseases12040071 - 02 Apr 2024
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Sarcopenia is a systemic skeletal muscle disease that is more prevalent in older adults. The role of exercise in improving the disease has been demonstrated. However, due to the variety of exercise modalities, it is not clear what type of exercise provides the
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Sarcopenia is a systemic skeletal muscle disease that is more prevalent in older adults. The role of exercise in improving the disease has been demonstrated. However, due to the variety of exercise modalities, it is not clear what type of exercise provides the best benefit. The aim of this meta-analysis was to analyze the effects of different exercise modalities on grip strength, appendicular skeletal muscle index, skeletal muscle index, and knee extensor strength in elderly patients with sarcopenia. The protocol for this evaluation was registered on the PROSPERO website and the databases PubMed, WOS, Cochrane Library, and Embase were searched. Thirteen studies were included in the analysis. The results showed that exercise interventions had positive effects on grip strength and knee extension muscle strength, with resistance training being the most effective. There was no significant improvement in appendicular skeletal muscle index or skeletal muscle index. This study still has limitations. For example, age group and exercise duration were not considered. Future studies should further explore benefits in age groups as well as other relevant outcome indicators.
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Open AccessArticle
Aggressiveness in Italian Children with ADHD: MAOA Gene Polymorphism Involvement
by
Ludovico Neri, Beatrice Marziani, Pierluigi Sebastiani, Tiziana Del Beato, Alessia Colanardi, Maria Pia Legge and Anna Aureli
Diseases 2024, 12(4), 70; https://doi.org/10.3390/diseases12040070 - 31 Mar 2024
Abstract
ADHD is a neurodevelopmental disorder that children and adults can develop. A complex interplay of genetic and environmental factors may underlie interindividual variability in ADHD and potentially related aggressive behavior. Using high-resolution molecular biology techniques, we investigated the impact of some MAOA and
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ADHD is a neurodevelopmental disorder that children and adults can develop. A complex interplay of genetic and environmental factors may underlie interindividual variability in ADHD and potentially related aggressive behavior. Using high-resolution molecular biology techniques, we investigated the impact of some MAOA and SLC6A4 variations on ADHD and aggressive behavior in a group of 80 Italian children with ADHD and in 80 healthy controls. We found that homozygous genotypes of MAOA rs6323 and rs1137070 were associated with an increased risk of ADHD (p = 0.02 and p = 0.03, respectively), whereas the heterozygous genotypes (GT of rs6323 and CT of rs1137030) (p = 0.0002 and p = 0.0006) were strongly linked to a lower risk of developing this disorder. In patients with aggressive behavior, we highlighted only a weak negative association of both MAOA polymorphisms (heterozygous genotypes) with aggressiveness, suggesting that these genotypes may be protective towards specific changes in behavior (p = 0.05). Interestingly, an increase in the GG genotype of rs6323 (p = 0.01) and a decrease in GT genotype (p = 0.0005) was also found in patients without aggressive behavior compared to controls. Regarding 5HTT gene genotyping, no allele and genotype differences have been detected among patients and controls. Our work shows that defining a genetic profile of ADHD may help in the early detection of patients who are more vulnerable to ADHD and/or antisocial and aggressive behavior and to design precision-targeted therapies.
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(This article belongs to the Topic Children’s Diseases, Family Management, and Quality of Life)
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The Role of Cytokines in the Pathogenesis and Treatment of Alcoholic Liver Disease
by
Giuseppe Guido Maria Scarlata, Carmen Colaci, Marialaura Scarcella, Marcello Dallio, Alessandro Federico, Luigi Boccuto and Ludovico Abenavoli
Diseases 2024, 12(4), 69; https://doi.org/10.3390/diseases12040069 - 29 Mar 2024
Abstract
Alcoholic liver disease (ALD) is a major cause of chronic liver disease. This term covers a broad spectrum of liver lesions, from simple steatosis to alcoholic hepatitis and cirrhosis. The pathogenesis of ALD is multifactorial and not fully elucidated due to complex mechanisms
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Alcoholic liver disease (ALD) is a major cause of chronic liver disease. This term covers a broad spectrum of liver lesions, from simple steatosis to alcoholic hepatitis and cirrhosis. The pathogenesis of ALD is multifactorial and not fully elucidated due to complex mechanisms related to direct ethanol toxicity with subsequent hepatic and systemic inflammation. The accumulation of pro-inflammatory cytokines and the reduction of anti-inflammatory cytokines promote the development and progression of ALD. To date, there are no targeted therapies to counter the progression of chronic alcohol-related liver disease and prevent acute liver failure. Corticosteroids reduce mortality by acting on the hepatic-systemic inflammation. On the other hand, several studies analyzed the effect of inhibiting pro-inflammatory cytokines and stimulating anti-inflammatory cytokines as potential therapeutic targets in ALD. This narrative review aims to clarify the role of the main cytokines involved in the pathogenesis and treatment of ALD.
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(This article belongs to the Section Gastroenterology)
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Lipid Profile, Eating Habit, and Physical Activity in Children with Down Syndrome: A Prospective Study
by
Luca Pecoraro, Melissa Zadra, Francesco Cavallin, Silvana Lauriola, Giorgio Piacentini and Angelo Pietrobelli
Diseases 2024, 12(4), 68; https://doi.org/10.3390/diseases12040068 - 29 Mar 2024
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Children with Down Syndrome (DS) frequently undergo health challenges, including a higher prevalence of overweight and obesity. We aimed to evaluate the impact of dietary and physical advice provided by a specialized pediatrician over two years. In this prospective study, 44 children with
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Children with Down Syndrome (DS) frequently undergo health challenges, including a higher prevalence of overweight and obesity. We aimed to evaluate the impact of dietary and physical advice provided by a specialized pediatrician over two years. In this prospective study, 44 children with DS, aged 2 to 17, underwent outpatient follow-up visits every six months between December 2020 and May 2023. Dietary habits, physical activities, anthropometric data, and laboratory results were recorded at baseline and 2-year follow-up. Adherence to the Mediterranean diet and physical activity were investigated using the ‘KIDMED’ and ‘Godin–Shepard Leisure-Time’ questionnaires, respectively, completed by the parents of the children. Venous blood samples were taken to determine the lipid profile. A significant reduction in BMI z-scores (p = 0.006) and an improvement in Godin–Shepard questionnaire scores (p = 0.0004) were observed. On the other hand, the lipid profile worsened, with an increase in LDL-c (p = 0.04) and a decrease in HDL-c (p = 0.03). Children with DS may benefit from an educational program on nutrition and physical activity to optimize weight control. Different interventions should target the lipid profile. Preventive intervention and follow-up by the pediatrician are essential for DS, which should continue into adulthood.
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