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
Long COVID in Children, Adults, and Vulnerable Populations: A Comprehensive Overview for an Integrated Approach
Diseases 2024, 12(5), 95; https://doi.org/10.3390/diseases12050095 - 06 May 2024
Abstract
Long COVID affects both children and adults, including subjects who experienced severe, mild, or even asymptomatic SARS-CoV-2 infection. We have provided a comprehensive overview of the incidence, clinical characteristics, risk factors, and outcomes of persistent COVID-19 symptoms in both children and adults, encompassing
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Long COVID affects both children and adults, including subjects who experienced severe, mild, or even asymptomatic SARS-CoV-2 infection. We have provided a comprehensive overview of the incidence, clinical characteristics, risk factors, and outcomes of persistent COVID-19 symptoms in both children and adults, encompassing vulnerable populations, such as pregnant women and oncological patients. Our objective is to emphasize the critical significance of adopting an integrated approach for the early detection and appropriate management of long COVID. The incidence and severity of long COVID symptoms can have a significant impact on the quality of life of patients and the course of disease in the case of pre-existing pathologies. Particularly, in fragile and vulnerable patients, the presence of PASC is related to significantly worse survival, independent from pre-existing vulnerabilities and treatment. It is important try to achieve an early recognition and management. Various mechanisms are implicated, resulting in a wide range of clinical presentations. Understanding the specific mechanisms and risk factors involved in long COVID is crucial for tailoring effective interventions and support strategies. Management approaches involve comprehensive biopsychosocial assessments and treatment of symptoms and comorbidities, such as autonomic dysfunction, as well as multidisciplinary rehabilitation. The overall course of long COVID is one of gradual improvement, with recovery observed in the majority, though not all, of patients. As the research on long-COVID continues to evolve, ongoing studies are likely to shed more light on the intricate relationship between chronic diseases, such as oncological status, cardiovascular diseases, psychiatric disorders, and the persistent effects of SARS-CoV-2 infection. This information could guide healthcare providers, researchers, and policymakers in developing targeted interventions.
Full article
(This article belongs to the Special Issue COVID-19 and Global Chronic Disease 2024: The Post-pandemic Era)
Open AccessCase Report
Lichen Amyloidosis in an Atopic Patient Treated with Dupilumab: A New Therapeutic Option
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Benedetta Tirone, Gerardo Cazzato, Francesca Ambrogio, Caterina Foti and Marco Bellino
Diseases 2024, 12(5), 94; https://doi.org/10.3390/diseases12050094 - 06 May 2024
Abstract
Lichen amyloidosis (LA) is a type of cutaneous amyloidosis characterized by brownish hyperkeratotic and itchy papules on the lower leg, back, forearm, or thigh. It is associated with itching and atopic dermatitis (AD) according to an etiopathogenetic mechanism that has not yet been
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Lichen amyloidosis (LA) is a type of cutaneous amyloidosis characterized by brownish hyperkeratotic and itchy papules on the lower leg, back, forearm, or thigh. It is associated with itching and atopic dermatitis (AD) according to an etiopathogenetic mechanism that has not yet been fully elucidated. Currently, the available therapies for this condition include oral antihistamines, laser, cyclosporine, topical corticosteroids, and phototherapy, but, in light of the overlap with AD, Dupilumab may also be indicated. We report the case of a female, 52 years old, who had been suffering from AD and LA for about 27 years. She had lesions attributable to both diseases on the trunk and lower limbs associated with severe itching and had proved resistant to cyclosporine therapy. It was decided to opt for Dupilumab with the induction of 2 fl of 300 mg and maintenance with 1 fl every other week. The therapy proved to be effective, returning a total resolution of both diseases one year after the beginning of the treatment. Dupilumab demonstrated efficacy and safety in the LA related to AD and led to clinical and quality of life improvements in this patient. Therefore, Dupilumab should be considered when treating LA. Further studies should be conducted focusing on the efficacy of the drug on LA (whether or not related to AD), changes in the skin lesions after discontinuation, and the safety of long-term application.
Full article
Open AccessReview
Unravelling the Triad of Lung Cancer, Drug Resistance, and Metabolic Pathways
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Pratik Mohanty, Babita Pande, Rakesh Acharya, L V K S Bhaskar and Henu Kumar Verma
Diseases 2024, 12(5), 93; https://doi.org/10.3390/diseases12050093 - 06 May 2024
Abstract
Lung cancer, characterized by its heterogeneity, presents a significant challenge in therapeutic management, primarily due to the development of resistance to conventional drugs. This resistance is often compounded by the tumor’s ability to reprogram its metabolic pathways, a survival strategy that enables cancer
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Lung cancer, characterized by its heterogeneity, presents a significant challenge in therapeutic management, primarily due to the development of resistance to conventional drugs. This resistance is often compounded by the tumor’s ability to reprogram its metabolic pathways, a survival strategy that enables cancer cells to thrive in adverse conditions. This review article explores the complex link between drug resistance and metabolic reprogramming in lung cancer, offering a detailed analysis of the molecular mechanisms and treatment strategies. It emphasizes the interplay between drug resistance and changes in metabolic pathways, crucial for developing effective lung cancer therapies. This review examines the impact of current treatments on metabolic pathways and the significance of considering metabolic factors to combat drug resistance. It highlights the different challenges and metabolic alterations in non-small-cell lung cancer and small-cell lung cancer, underlining the need for subtype-specific treatments. Key signaling pathways, including PI3K/AKT/mTOR, MAPK, and AMPK, have been discussed for their roles in promoting drug resistance and metabolic changes, alongside the complex regulatory networks involved. This review article evaluates emerging treatments targeting metabolism, such as metabolic inhibitors, dietary management, and combination therapies, assessing their potential and challenges. It concludes with insights into the role of precision medicine and metabolic biomarkers in crafting personalized lung cancer treatments, advocating for metabolic targeting as a promising approach to enhance treatment efficacy and overcome drug resistance. This review underscores ongoing advancements and hurdles in integrating metabolic considerations into lung cancer therapy strategies.
Full article
(This article belongs to the Section Respiratory Diseases)
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Open AccessArticle
The Effect of Trabecular Aspiration on Intraocular Pressure, Medication and the Need for Further Glaucoma Surgery in Eyes with Pseudoexfoliation Glaucoma
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Verena Prokosch, Sarah B. Zwingelberg, Desislava V. Efremova, Francesco Buonfiglio, Norbert Pfeiffer and Adrian Gericke
Diseases 2024, 12(5), 92; https://doi.org/10.3390/diseases12050092 - 06 May 2024
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Purpose: To investigate whether trabecular aspiration (TA) has an effective medium-term intraocular pressure (IOP)-lowering and medication-saving effect in patients with pseudoexfoliation glaucoma (PEG). In addition, a subgroup analysis of patients with or without a previous trabeculectomy was performed. Methods: Records of 290 consecutive
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Purpose: To investigate whether trabecular aspiration (TA) has an effective medium-term intraocular pressure (IOP)-lowering and medication-saving effect in patients with pseudoexfoliation glaucoma (PEG). In addition, a subgroup analysis of patients with or without a previous trabeculectomy was performed. Methods: Records of 290 consecutive eyes with PEG that underwent TA between 2006 and 2012 at the Department of Ophthalmology, Mainz, Germany, were retrospectively analyzed with a follow-up period of 3 years. The main outcomes were IOP and the need for further medical treatment. Results: Of the 290 eyes with PEG that received TA, 167 eyes from 127 patients met the inclusion criteria. Among these eyes, 128 received TA and cataract surgery (Phaco-TA) without having had a trabeculectomy (group I) before, 29 had Phaco-TA after a previous trabeculectomy (group II) and 10 underwent stand-alone TA after a previous trabeculectomy (group III). In the whole cohort, the median IOP decreased immediately after TA and remained significantly lower compared to the baseline throughout the period of 36 months. Likewise, the median number of antiglaucoma drugs was reduced over the whole period. At the same time, in group I, the median IOP and the number of antiglaucoma drugs were reduced over 36 months. In contrast, in the post-trabeculectomy groups (group II and III), the median IOP and the number of antiglaucoma drugs could not be reduced. While most of the patients that received Phaco-TA with or without a previous trabeculectomy (group I and II) did not require further surgical intervention during the follow-up period, almost all patients receiving stand-alone TA after a previous trabeculectomy (group III) needed surgical therapy, most of them between the second and the third year following TA. Conclusions: Phaco-TA has an effective medium-term pressure-lowering and medication-saving effect, especially in patients without a previous trabeculectomy. In trabeculectomized eyes, the effect of TA is limited but still large enough to delay more invasive surgical interventions in some patients.
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Open AccessCase Report
Giant Sublingual, Submental, and Lingual Dermoid Cyst Restricting Tongue Movement Undiagnosed for Several Years
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Jakub Bargiel, Michał Gontarz, Krzysztof Gąsiorowski, Tomasz Marecik, Paweł Szczurowski, Jan Zapała and Grażyna Wyszyńska-Pawelec
Diseases 2024, 12(5), 91; https://doi.org/10.3390/diseases12050091 - 06 May 2024
Abstract
(1) Background: Dermoid cysts occurring in the sublingual space are uncommon, typically manifesting as painless, gradually enlarging masses, usually not exceeding 3 cm in diameter. These cysts can resemble various conditions due to their clinical presentation, with a relatively low occurrence rate in
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(1) Background: Dermoid cysts occurring in the sublingual space are uncommon, typically manifesting as painless, gradually enlarging masses, usually not exceeding 3 cm in diameter. These cysts can resemble various conditions due to their clinical presentation, with a relatively low occurrence rate in the oral cavity, accounting for about 1.6% of all dermoid cysts. (2) Methods: We present the case of a 17-year-old female with a giant dermoid cyst involving the submental, sublingual, and lingual areas, undiagnosed for several years. Diagnosis was achieved through MRI and fine-needle aspiration, leading to the decision for surgical removal through a cervical approach. (3) Results: The healing process was uneventful. From the first day post-surgery, the patient began myofunctional therapy, successfully regaining proper tongue functions. Throughout a 24-month follow-up, the patient remained symptom-free. (4) Conclusions: A cervical approach can successfully treat giant oral dermoid cysts involving submental, sublingual, and lingual spaces. Tongue function can be successfully regained through myofunctional therapy after surgical treatment.
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(This article belongs to the Section Rare Syndrome)
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Open AccessReview
A Review of the CACNA Gene Family: Its Role in Neurological Disorders
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Oliwia Szymanowicz, Artur Drużdż, Bartosz Słowikowski, Sandra Pawlak, Ewelina Potocka, Ulyana Goutor, Mateusz Konieczny, Małgorzata Ciastoń, Aleksandra Lewandowska, Paweł P. Jagodziński, Wojciech Kozubski and Jolanta Dorszewska
Diseases 2024, 12(5), 90; https://doi.org/10.3390/diseases12050090 - 05 May 2024
Abstract
Calcium channels are specialized ion channels exhibiting selective permeability to calcium ions. Calcium channels, comprising voltage-dependent and ligand-gated types, are pivotal in neuronal function, with their dysregulation is implicated in various neurological disorders. This review delves into the significance of the CACNA genes,
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Calcium channels are specialized ion channels exhibiting selective permeability to calcium ions. Calcium channels, comprising voltage-dependent and ligand-gated types, are pivotal in neuronal function, with their dysregulation is implicated in various neurological disorders. This review delves into the significance of the CACNA genes, including CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, and CACNA1H, in the pathogenesis of conditions such as migraine, epilepsy, cerebellar ataxia, dystonia, and cerebellar atrophy. Specifically, variants in CACNA1A have been linked to familial hemiplegic migraine and epileptic seizures, underscoring its importance in neurological disease etiology. Furthermore, different genetic variants of CACNA1B have been associated with migraine susceptibility, further highlighting the role of CACNA genes in migraine pathology. The complex relationship between CACNA gene variants and neurological phenotypes, including focal seizures and ataxia, presents a variety of clinical manifestations of impaired calcium channel function. The aim of this article was to explore the role of CACNA genes in various neurological disorders, elucidating their significance in conditions such as migraine, epilepsy, and cerebellar ataxias. Further exploration of CACNA gene variants and their interactions with molecular factors, such as microRNAs, holds promise for advancing our understanding of genetic neurological disorders.
Full article
(This article belongs to the Section Rare Syndrome)
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Open AccessArticle
Factors Affecting Sleep Quality among University Medical and Nursing Students: A Study in Two Countries in the Mediterranean Region
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Fadila Bousgheiri, Ali Allouch, Karima Sammoud, Rut Navarro-Martínez, Vanessa Ibáñez-del Valle, Meftaha Senhaji, Omar Cauli, Nisrin El Mlili and Adil Najdi
Diseases 2024, 12(5), 89; https://doi.org/10.3390/diseases12050089 - 05 May 2024
Abstract
Poor sleep quality, a global public health concern, poses a significant burden on individuals, particularly health care university students facing intense academic stress. A three-center cross-sectional study was conducted at the Higher Institute of Nursing and Health Sciences in Tetouan (Morocco), Faculty of
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Poor sleep quality, a global public health concern, poses a significant burden on individuals, particularly health care university students facing intense academic stress. A three-center cross-sectional study was conducted at the Higher Institute of Nursing and Health Sciences in Tetouan (Morocco), Faculty of Medicine in Tangier (Morocco) and Faculty of Nursing in Valencia (Spain). We collected various data using a sociodemographic questionnaire, the Pittsburgh sleep quality questionnaire, the international physical activity questionnaire (IPAQ) and the smartphone addiction questionnaire short-version (SAS-SV). A total of 1210 students were included in our study (mean age 20.4 years, 67.2% female, nursing students (66.2%) and medical students (33.8%), 76.1% students from Morocco and 33.9% from Spain). Analysis revealed a higher prevalence of poor sleep quality among Moroccans students compared to Spanish ones (p < 0.001), that nursing students showed less favorable sleep quality than medical students (p < 0.011) and that living with a chronic disease was linked to less favorable sleep quality (p < 0.001). Lastly, intense or weak physical activity and smartphone addiction were correlated with poor sleep quality (p < 0.001). In the multivariate analysis, an association persisted between poor sleep quality and factors such as the country of study (Odds ratio (OR): 6.25 [95% Confidence Interval (CI): 4.34–9.09]), involvement in nursing studies (OR: 3.50 [95% CI: 2.36–5.27]), and the presence of chronic diseases (OR: 2.70 [95% CI: 1.72–4.16]), (p < 0.01 each). Our findings highlight the multifaceted factors affecting sleep quality in young university students. The implications underscore the imperative of interventions tailored to this demographic group.
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(This article belongs to the Section Neuro-psychiatric Disorders)
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Open AccessArticle
Elevated IL-6 and Tumor Necrosis Factor-α in Immune Checkpoint Inhibitor Myocarditis
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Abdelrahman Ali, Rebecca Caldwell, Gaspar Pina, Noah Beinart, Garrett Jensen, Syed Wamique Yusuf, Efstratios Koutroumpakis, Ihab Hamzeh, Shaden Khalaf, Cezar Iliescu, Anita Deswal and Nicolas L. Palaskas
Diseases 2024, 12(5), 88; https://doi.org/10.3390/diseases12050088 - 03 May 2024
Abstract
Introduction: The impact of peripheral cytokine levels on the prognosis and treatment of immune checkpoint inhibitor (ICI) myocarditis has not been well studied. Objectives: This study aimed to identify cytokines that can prognosticate and direct the treatment of ICI myocarditis. Methods: This was
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Introduction: The impact of peripheral cytokine levels on the prognosis and treatment of immune checkpoint inhibitor (ICI) myocarditis has not been well studied. Objectives: This study aimed to identify cytokines that can prognosticate and direct the treatment of ICI myocarditis. Methods: This was a single-center, retrospective cohort study of patients with ICI myocarditis who had available peripheral cytokine levels between January 2011 and May 2022. Major adverse cardiovascular events (MACEs) were defined as a composite of heart failure with/without cardiogenic shock, arterial thrombosis, life-threatening arrhythmias, pulmonary embolism, and sudden cardiac death. Results: In total, 65 patients with ICI myocarditis had cytokine data available. Patients were mostly males (70%), with a mean age of 67.8 ± 12.7 years. Interleukin (IL)-6 and tumor necrosis factor-α (TNF-α) were the most common cytokines to be elevated with 48/65 (74%) of patients having a peak IL-6 above normal limits (>5 pg/mL) and 44/65 (68%) of patients with peak TNF-α above normal limits (>22 pg/mL). Patients with elevated peak IL-6 had similar 90-day mortality and MACE outcomes compared to those without (10.4% vs. 11.8%, p = 0.878 and 8.8% vs. 17.7%, p = 0.366, respectively). Similarly, those with elevated peak TNF-α had similar 90-day mortality and MACEs compared to those without (29.6% vs. 14.3%, p = 0.182 and 13.6% vs. 4.8%, p = 0.413, respectively). Kaplan–Meier survival analysis also showed that there was not a significant difference between MACE-free survival when comparing elevated and normal IL-6 and TNF-α levels (p = 0.182 and p = 0.118, respectively). MACEs and overall survival outcomes were similar between those who received infliximab and those who did not among all patients and those with elevated TNF-α (p-value 0.70 and 0.83, respectively). Conclusion: Peripheral blood levels of IL-6 and TNF-α are the most commonly elevated cytokines in patients with ICI myocarditis. However, their role in the prognostication and guidance of immunomodulatory treatment is currently limited.
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(This article belongs to the Section Cardiology)
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Open AccessReview
Innovative Drug Modalities for the Treatment of Advanced Prostate Cancer
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Maurizio Capuozzo, Mariachiara Santorsola, Monica Ianniello, Francesco Ferrara, Andrea Zovi, Nadia Petrillo, Rosa Castiello, Maria Rosaria Fantuz, Alessandro Ottaiano and Giovanni Savarese
Diseases 2024, 12(5), 87; https://doi.org/10.3390/diseases12050087 - 02 May 2024
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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
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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.
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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
by
Przemyslaw Zdziarski and Andrzej Gamian
Diseases 2024, 12(5), 80; https://doi.org/10.3390/diseases12050080 - 23 Apr 2024
Abstract
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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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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
by
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
by
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
by
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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Efficacy and Safety of Plasma Rich in Growth Factor in Patients with Congenital Aniridia and Dry Eye Disease
by
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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