Journal Description
Diseases
Diseases
is an international, peer-reviewed, open access, multidisciplinary journal which focuses on the latest and outstanding research on diseases and conditions published monthly online by MDPI. The first issue is released in 2013.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, ESCI (Web of Science), PubMed, PMC, CAPlus / SciFinder, and other databases.
- Journal Rank: JCR - Q2 (Medicine, Research and Experimental)
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 18.9 days after submission; acceptance to publication is undertaken in 2.6 days (median values for papers published in this journal in the first half of 2024).
- 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:
2.9 (2023)
Latest Articles
Mitochondrial Dysfunction in Systemic Lupus Erythematosus: Insights and Therapeutic Potential
Diseases 2024, 12(9), 226; https://doi.org/10.3390/diseases12090226 (registering DOI) - 23 Sep 2024
Abstract
Systemic lupus erythematosus (SLE) is a complex autoimmune disorder characterized by the presence of various serum autoantibodies and multi-system effects, predominantly affecting young female patients. The pathogenesis of SLE involves a combination of genetic factors, environmental triggers, and pathogen invasions that disrupt immune
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Systemic lupus erythematosus (SLE) is a complex autoimmune disorder characterized by the presence of various serum autoantibodies and multi-system effects, predominantly affecting young female patients. The pathogenesis of SLE involves a combination of genetic factors, environmental triggers, and pathogen invasions that disrupt immune cell activation, leading to the release of autoantibodies and chronic inflammation. Mitochondria, as the primary cellular powerhouses, play a crucial role in SLE development through their control of energy generation, reactive oxygen species (ROS) production, and cellular apoptotic pathways. Dysregulation of mitochondrial structure and function can contribute to the immune dysregulation, oxidative stress, and inflammation seen in SLE. Recent research has highlighted the impact of mitochondrial dysfunction on various immune cells involved in SLE pathogenesis, such as T-lymphocytes, B-lymphocytes, neutrophils, and plasmacytoid dendritic cells. Mitochondrial dysfunction in these immune cells leads to increased ROS production, disrupted mitophagy, and alterations in energy metabolism, contributing to immune dysregulation and inflammation. Moreover, genetic variations in mitochondrial DNA (mtDNA) and abnormalities in mitochondrial dynamics have been linked to the pathogenesis of SLE, exacerbating oxidative stress and immune abnormalities. Targeting mitochondrial function has emerged as a promising therapeutic approach for SLE. Drugs such as sirolimus, N-acetylcysteine, coenzyme Q10, and metformin have shown potential in restoring mitochondrial homeostasis, reducing oxidative stress, and modulating immune responses in SLE. These agents have demonstrated efficacy in preclinical models and clinical studies by improving disease activity, reducing autoantibody titers, and ameliorating organ damage in SLE patients. In conclusion, this review underscores the critical role of mitochondria in the pathogenesis of SLE and the potential of targeting mitochondrial dysfunction as a novel therapeutic strategy for improving outcomes in SLE patients. Further investigation into the mechanisms underlying mitochondrial involvement in SLE and the development of targeted mitochondrial therapies hold promise for advancing SLE treatment and enhancing patient care.
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(This article belongs to the Special Issue Treatment Strategies and Immune Responses in Rheumatic Diseases)
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Open AccessBrief Report
Whole Exome Sequencing of Adult Indians with Apparently Acquired Aplastic Anaemia: Initial Experience at Tertiary Care Hospital
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Sudhir Mehta, Krishna Mohan Medicherla, Sandhya Gulati, Nidhi Sharma, Rabia Parveen, Ashwani Kumar Mishra, Sonal Gupta and Prashanth Suravajhala
Diseases 2024, 12(9), 225; https://doi.org/10.3390/diseases12090225 (registering DOI) - 23 Sep 2024
Abstract
Aplastic anaemia (AA) is a rare hypocellular bone marrow disease with a large number of mutations in the telomerase reverse transcriptase gene (TERT), leading to bone marrow failure. We used our benchmarked whole exome sequencing (WES) pipeline to identify variants in adult Indian
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Aplastic anaemia (AA) is a rare hypocellular bone marrow disease with a large number of mutations in the telomerase reverse transcriptase gene (TERT), leading to bone marrow failure. We used our benchmarked whole exome sequencing (WES) pipeline to identify variants in adult Indian subjects with apparently acquired AA. For 36 affected individuals, we sequenced coding regions to a mean coverage of 100× and a sufficient depth was achieved. Downstream validation and filtering to call mutations in patients treated with Cyclosporin A (CsA) identified variants associated with AA. We report four mutations across the genes associated with the AA, TERT and CYP3A5, in addition to other genes, viz., IFNG, PIGA, NBS/NBN, and MPL. We demonstrate the application of WES to discover the variants associated with CsA responders and non-responders in an Indian cohort.
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Open AccessReview
Therapeutic Potential of Glucagon-like Peptide-1 Receptor Agonists in Obstructive Sleep Apnea Syndrome Management: A Narrative Review
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Silvano Dragonieri, Andrea Portacci, Vitaliano Nicola Quaranta, Pierluigi Carratu, Zsofia Lazar, Giovanna Elisiana Carpagnano and Andras Bikov
Diseases 2024, 12(9), 224; https://doi.org/10.3390/diseases12090224 (registering DOI) - 23 Sep 2024
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Background: Obstructive Sleep Apnea (OSA) is a prevalent disorder characterized by repetitive upper airway obstructions during sleep, leading to intermittent hypoxia and sleep fragmentation. Current treatments, particularly Continuous Positive Airway Pressure (CPAP), face adherence challenges, necessitating novel therapeutic approaches. Methods: This review
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Background: Obstructive Sleep Apnea (OSA) is a prevalent disorder characterized by repetitive upper airway obstructions during sleep, leading to intermittent hypoxia and sleep fragmentation. Current treatments, particularly Continuous Positive Airway Pressure (CPAP), face adherence challenges, necessitating novel therapeutic approaches. Methods: This review explores the potential of Glucagon-like Peptide-1 receptor agonists (GLP-1RA), commonly used for type 2 diabetes and obesity, in managing OSA. GLP-1RA promotes weight loss, enhances insulin sensitivity, and exhibits anti-inflammatory and neuroprotective properties, potentially addressing key pathophysiological aspects of OSA. Results: Emerging evidence suggests that these agents may reduce OSA severity by decreasing upper airway fat deposition and improving respiratory control. Clinical trials have demonstrated significant reductions in the Apnea-Hypopnea Index (AHI) and improvements in sleep quality with GLP-1 therapy. Conclusions: Future research should focus on elucidating the mechanisms underlying GLP-1 effects on OSAS, optimizing combination therapies, and identifying patient subgroups that may benefit the most. Integrating GLP-1RA into OSAS management could revolutionize treatment by addressing both the metabolic and respiratory components of the disorder, ultimately enhancing patient outcomes.
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Open AccessArticle
The Effect of Organic Vegetable Mixed Juice on Blood Circulation and Intestine Flora: Randomized, Double-Blinded, Placebo-Controlled Clinical Trial
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Yun-Ha Lee, Jae-Ho Lee, Soo-Min Jeon, Il-Kyu Park, Hyun-Bin Jang, Soo-A Kim, Soo-Dong Park, Jae-Jung Shim, Seong-Soo Hong and Jae-Hwan Lee
Diseases 2024, 12(9), 223; https://doi.org/10.3390/diseases12090223 (registering DOI) - 23 Sep 2024
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Epidemiological evidence suggests that fruit and vegetable intake significantly positively affects cardiovascular health. Since vegetable juice is more accessible than raw vegetables, it attracts attention as a health functional food for circulatory diseases. Therefore, this study measured blood lipids, antioxidants, blood circulation indicators,
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Epidemiological evidence suggests that fruit and vegetable intake significantly positively affects cardiovascular health. Since vegetable juice is more accessible than raw vegetables, it attracts attention as a health functional food for circulatory diseases. Therefore, this study measured blood lipids, antioxidants, blood circulation indicators, and changes in the microbiome to confirm the effect of organic vegetable mixed juice (OVJ) on improving blood circulation. This 4-week, randomized, double-blinded, placebo-controlled study involved adult men and women with borderline total cholesterol (TC) and low-density lipoprotein (LDL) levels. As a result, blood lipid profile indicators, such as TC, triglycerides, LDL cholesterol, and apolipoprotein B, decreased (p < 0.05) in the OVJ group compared with those in the placebo group. Additionally, the antioxidant biomarker superoxide dismutase increased (p < 0.05). In contrast, systolic and diastolic blood viscosities, as blood circulation-related biomarkers, decreased (p < 0.05) in the OVJ group compared with those in the placebo group. After the intervention, a fecal microbiome analysis confirmed differences due to changes in the intestinal microbiome composition between the OVJ and placebo groups. In conclusion, our research results confirmed that consuming OVJ improves blood circulation by affecting the blood lipid profile, antioxidant enzymes, and microbiome changes.
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Open AccessArticle
Effectiveness of Defocus Incorporated Multiple Segments in Slowing Myopia Progression in Pediatric Patients as a Function of Age: Three-Year Follow-Up
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Luca Buzzonetti, Sergio Petroni, Matteo Federici, Paola Valente and Giancarlo Iarossi
Diseases 2024, 12(9), 222; https://doi.org/10.3390/diseases12090222 - 18 Sep 2024
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Background: The purpose of this study is to evaluate the effectiveness of Defocus Incorporated Multiple Segments (DIMSs) in slowing myopia progression in pediatric patients as a function of age. Methods: This was a non-randomized experimenter-masked retrospective controlled observational study of European
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Background: The purpose of this study is to evaluate the effectiveness of Defocus Incorporated Multiple Segments (DIMSs) in slowing myopia progression in pediatric patients as a function of age. Methods: This was a non-randomized experimenter-masked retrospective controlled observational study of European individuals aged 6–16 years with progressive myopia but no ocular pathology. We retrospectively reviewed the charts of the participants allocated to receive DIMS spectacles (Hoya® MiyoSmart®) or single-vision spectacle lenses (control group). Cycloplegic spherical equivalent (SE) and axial length (AL) were measured at baseline and at 12-, 24-, and 36-month follow-ups. The results were stratified by age into four groups: patients wearing DIMS spectacles older or younger than 10 years of age (group A, 20 patients mean age 13.6 ± 2.2, and group C, 20 patients mean age 9.0 ± 1.2) and age-matched control groups (group B, 18 patients mean age 13.2 ± 2.5, and group D, 22 patients mean age 8.5 ± 0.9). Results: At 36 months, SE and AL increase were significantly reduced in groups A and C, respectively, compared to groups B and D (p < 0.05). Linear regression analysis showed a significant correlation (p < 0.05) between patient age and myopia progression for SE in groups A and C, but only in group A for AL. Groups B and D did not show any significant correlation (p > 0.05). Conclusions: DIMS spectacles seem to slow myopia progression in pediatric patients; however, their effectiveness shows the greatest results in children older than 10 years of age. Moreover, our findings suggest that AL may be the more reliable parameter for evaluating myopia progression.
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Open AccessArticle
Circulating Interleukins as Biomarkers in Non-Small Cell Lung Cancer Patients: A Pilot Study Compared to Normal Individuals
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Wei-Wen Lim, Jason H. Leung, Chen Xie, Angelina W. T. Cheng, Liping Su, Luh-Nah Lum, Aishah Toh, Siew-Ching Kong, Angela M. Takano, Derek J. Hausenloy and Yang C. Chua
Diseases 2024, 12(9), 221; https://doi.org/10.3390/diseases12090221 - 18 Sep 2024
Abstract
Identifying biomarkers in non-small cell lung cancer (NSCLC) can improve diagnosis and patient stratification. We evaluated plasmas and sera for interleukins (IL)-11, IL-6, IL-8, IL-17A, and IL-33 as biomarkers in primary NSCLC patients undergoing surgical treatment against normal volunteers. Exhaled-breath condensates (EBCs), a
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Identifying biomarkers in non-small cell lung cancer (NSCLC) can improve diagnosis and patient stratification. We evaluated plasmas and sera for interleukins (IL)-11, IL-6, IL-8, IL-17A, and IL-33 as biomarkers in primary NSCLC patients undergoing surgical treatment against normal volunteers. Exhaled-breath condensates (EBCs), a potential source without invasive procedures, were explored in normal individuals. Due to separate recruitment criteria and intrinsic cohort differences, the NSCLC and control cohorts were not well matched for age (median age: 65 vs. 40 years; p < 0.0001) and smoking status (p = 0.0058). Interleukins were first assessed through conventional ELISA. IL-11 was elevated in NSCLC plasma compared to controls (49.71 ± 16.90 vs. 27.67 ± 14.06 pg/mL, respectively, p < 0.0001) but undetectable in sera and EBCs by conventional ELISA. Therefore, high-sensitivity PCR-based IL-11 ELISA was repeated, albeit with concentration discrepancies. IL11 gene and protein upregulation by RT-qPCR and immunohistochemistry, respectively, were validated in NSCLC tumors. The lack of detection sensitivity across IL-6, IL-8, IL-17A, and IL-33 suggests the need for further, precise assays. Surprisingly, biomarker concentrations can be dissimilar across paired plasmas and sera. Our results identified a need to optimize detection limits for biomarker detection and caution against over-reliance on just one form of blood sample for biomarker assessment.
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(This article belongs to the Section Oncology)
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Open AccessReview
Neurobiological Implications of Chronic Stress and Metabolic Dysregulation in Inflammatory Bowel Diseases
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Aleksandar Sic, Kiana Cvetkovic, Eshanika Manchanda and Nebojsa Nick Knezevic
Diseases 2024, 12(9), 220; https://doi.org/10.3390/diseases12090220 - 18 Sep 2024
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Chronic stress is a significant factor affecting modern society, with profound implications for both physical and mental health. Central to the stress response is cortisol, a glucocorticoid hormone produced by the adrenal glands. While cortisol release is adaptive in acute stress, prolonged exposure
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Chronic stress is a significant factor affecting modern society, with profound implications for both physical and mental health. Central to the stress response is cortisol, a glucocorticoid hormone produced by the adrenal glands. While cortisol release is adaptive in acute stress, prolonged exposure to elevated levels can result in adverse effects. This manuscript explores the neurobiological implications of chronic stress and its impact on metabolic dysregulation, particularly in the context of inflammatory bowel diseases (IBDs). The hypothalamic–pituitary–adrenal (HPA) axis regulates cortisol production, which influences metabolism, immune response, and neurobiology. Elevated cortisol levels are associated with the development and exacerbation of metabolic disorders like IBD and contribute to neurodegenerative processes, including cognitive impairments and increased susceptibility to psychiatric conditions. The interaction between cortisol and its receptors, particularly glucocorticoid receptors, underscores the complexity of these effects. This review aims to elucidate the mechanisms through which chronic stress and cortisol dysregulation impact metabolic health and neurobiological function, providing insights into potential therapeutic strategies for mitigating these effects.
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Open AccessArticle
The Simultaneous Use of Bladder Epicheck® and Urinary Cytology Can Improve the Sensitivity and Specificity of Diagnostic Follow-Up of Urothelial Lesions: Up-to-Date Data from a Multi-Institutional Cohort
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Ludovica Pepe, Vincenzo Fiorentino, Cristina Pizzimenti, Giuseppe Riganati, Mariausilia Franchina, Marina Micali, Fernanda Russotto, Antonio Ieni, Giovanni Tuccari, Guido Fadda, Francesco Pierconti and Maurizio Martini
Diseases 2024, 12(9), 219; https://doi.org/10.3390/diseases12090219 - 18 Sep 2024
Abstract
Background/Objectives: Bladder cancer is a prevalent urinary system malignancy and urinary cytology is widely used for its screening and follow-up. A novel diagnostic tool called Bladder Epicheck® (BE) is increasingly being used for monitoring the recurrence of non-muscle-invasive bladder cancer (NMIBC). The
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Background/Objectives: Bladder cancer is a prevalent urinary system malignancy and urinary cytology is widely used for its screening and follow-up. A novel diagnostic tool called Bladder Epicheck® (BE) is increasingly being used for monitoring the recurrence of non-muscle-invasive bladder cancer (NMIBC). The simultaneous use of BE and urinary cytology can increase the diagnostic performances in the follow-up of bladder neoplasms. Methods: In this multicenter study, we retrospectively evaluated the data of 322 patients in follow-up for a high-grade bladder carcinoma over a six-year period (from January 2018 to March 2024). The diagnostic performances of both cytology and BE and their combination were calculated using histology as gold standard. Results: Recurrences were diagnosed as high-grade urothelial carcinoma NMIBC in 18 cases, low-grade papillary NMIBC in 8 cases, and carcinoma in situ (CIS) in 4 cases. Cytological analysis correctly identified 26 out of 30 carcinomas, while 286 were correctly diagnosed as negative results. BE correctly identified 25 out of 30 carcinomas, 285 were correctly diagnosed as negative results. The combination of BE and urinary cytology correctly identified 29 out of 30 carcinomas, while 289 were correctly diagnosed as negative results. Conclusions: The combination of BE and cytology could be the most effective approach for follow-up diagnosis in patients with high-grade NMIBC, reducing unnecessary invasive procedures.
Full article
(This article belongs to the Special Issue Cancers of the Genitourinary System: Pathophysiology, Modeling, and Treatment)
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Open AccessArticle
Comparison of Superselective Renal Artery Embolization versus Retroperitoneal Laparoscopic Partial Nephrectomy in Ruptured Hemorrhagic Renal Angiomyolipoma: A Single-Center Study
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Zhaoyang Li, Lu Yang, Huitang Yang, Tonghe Zhang, Yandong Cai, Zhan Jiang, Guoju Fan, Kaiqiang Wang, Bo Chen, Hongwei Zhang, Hailong Hu and Yankui Li
Diseases 2024, 12(9), 218; https://doi.org/10.3390/diseases12090218 - 16 Sep 2024
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Purpose: To analyze the clinical efficacy of superselective renal artery embolization and retroperitoneal laparoscopic partial nephrectomy for the treatment of ruptured hemorrhagic renal angiomyolipoma and to provide a reference for the selection of treatment methods for ruptured hemorrhagic renal angiomyolipoma. Methods: A retrospective
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Purpose: To analyze the clinical efficacy of superselective renal artery embolization and retroperitoneal laparoscopic partial nephrectomy for the treatment of ruptured hemorrhagic renal angiomyolipoma and to provide a reference for the selection of treatment methods for ruptured hemorrhagic renal angiomyolipoma. Methods: A retrospective analysis was conducted on the clinical data of 24 patients who were diagnosed with ruptured hemorrhagic renal angiomyolipoma at the Second Hospital of Tianjin Medical University between January 2019 and December 2021. Among them, 10 patients were treated with superselective arterial embolization (SAE), and 14 patients were treated with retroperitoneal laparoscopic part nephrectomy (RLPN). The differences between the two treatment methods in terms of hospital stay, hospital costs, anesthesia method, operation time, intraoperative blood loss, postoperative bed rest time, antibiotic dosage, postoperative complication rate, tumor diameter changes, creatinine value changes, hemoglobin value changes, tumor recurrence rate, and reoperation rate were compared. Results: All patients completed the treatment and were discharged. There were no significant differences in length of hospital stay, hospital costs, creatinine change values, or postoperative complication rates between the two groups (p > 0.05). However, there were statistically significant differences (p < 0.05) in surgical time (85.50 ± 19.94 min vs. 141.07 ± 76.33 min), intraoperative blood loss (21.50 ± 14.72 mL vs. 153.57 ± 97.00 mL), postoperative bed rest time (22.7 ± 1.56 h vs. 41.21 ± 3.57 h), preoperative hemoglobin levels (94.7 ± 23.62 g/L vs. 113.79 ± 17.83 g/L), and hemoglobin changes (−6.60 ± 10.36 g/L vs. −15.21 ± 8.79 g/L) between the two groups. Both groups of patients had an average follow-up period of 22 months, and patients in the SAE group had a mean reduction of 3.33 cm in tumor diameter within the follow-up period compared with the pre-embolization period (p < 0.05). None of the patients in the SAE group experienced rebleeding, and there was no tumor recurrence in either group. Conclusion: SAE and RLPN are effective treatments for ruptured renal angiomyolipoma with good outcomes. Furthermore, compared to RLPN, SAE offers advantages such as simplicity of operation, minimal trauma, shorter surgical time, minimal impact on hemoglobin levels, shorter bed rest time, faster postoperative recovery, and maximal preservation of renal units.
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Open AccessArticle
Increased Distress in Neurooncological Patients, a Monocentric Longitudinal Study: When to Screen Which Patient?
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Franziska Staub-Bartelt, Julia Steinmann, Maren Wienand, Michael Sabel and Marion Rapp
Diseases 2024, 12(9), 217; https://doi.org/10.3390/diseases12090217 - 16 Sep 2024
Abstract
Objective: Neurooncological patients are well-known to experience an increased psycho-oncological burden with a negative impact on distress, therapy adherence, quality of life, and finally survival. But still, psycho-oncological screening and support is rare, with ongoing discussion about specific screening time points and impact
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Objective: Neurooncological patients are well-known to experience an increased psycho-oncological burden with a negative impact on distress, therapy adherence, quality of life, and finally survival. But still, psycho-oncological screening and support is rare, with ongoing discussion about specific screening time points and impact factors. Therefore, we analysed the psycho-oncologic treatment demand at specific disease-related time points throughout therapy. Methods: In this longitudinal, prospective, single-centre study, patients with malignant brain tumours were screened for increased distress (using the Distress Thermometer), anxiety, depression (Hospital Anxiety and Depression Scale questionnaire), and health-related quality of life interference (EORTC QLQ C30-BN20 questionnaire) at specific longitudinal time points during therapy. The results were correlated with sociodemographic and clinical data. Results: From 2013 to 2017, 2500 prospective screening data points from 512 malignant brain tumour patients were analysed. DT was identified as a significant predictor for psycho-oncological treatment demand (p < 0.001). Particularly significant time points concerning psycho-oncological burden were primary diagnosis and tumour recurrence. Next to these known factors, here, patients < 65 years old and female patients (p = 0.018 and p = 0.017) reflected increased screening results, whereas partnership and professional activity (p = 0.043; p = 0.017) were identified as contributing factors to a significantly decreased treatment demand. Conclusions: The increased need for psycho-oncological support for neurooncological patients is underlined. Psycho-oncological support should particularly be offered at the time points of primary diagnosis and tumour recurrence. To support the positive effect of caregivers, they should be involved at an early stage.
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Open AccessReview
Beyond Pharmacology: A Narrative Review of Alternative Therapies for Anxiety Disorders
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Zuzanna Antos, Klaudia Zackiewicz, Natalia Tomaszek, Stefan Modzelewski and Napoleon Waszkiewicz
Diseases 2024, 12(9), 216; https://doi.org/10.3390/diseases12090216 - 16 Sep 2024
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Background: Anxiety disorders significantly reduce patients’ quality of life. Current pharmacological treatments, primarily benzodiazepines and antidepressants, are associated with numerous side effects. Consequently, there is a continual search for alternative methods to traditional therapies that are less burdensome for patients and broaden their
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Background: Anxiety disorders significantly reduce patients’ quality of life. Current pharmacological treatments, primarily benzodiazepines and antidepressants, are associated with numerous side effects. Consequently, there is a continual search for alternative methods to traditional therapies that are less burdensome for patients and broaden their therapeutic options. Our objective was to determine the role of selected alternative methods in the treatment of anxiety disorders. Methods: In this review, we examined recent evidence on alternative treatments for anxiety disorders, including physical activity, mindfulness, virtual reality (VR) technology, biofeedback, herbal remedies, transcranial magnetic stimulation (TMS), cryotherapy, hyperbaric therapy, vagus nerve stimulation (VNS), 3,4-methylenedioxymethamphetamine (MDMA), electroconvulsive therapy (ECT), and eye movement desensitization and reprocessing (EMDR) therapy. For this purpose we reviewed PubMed and after initial search, we excluded works unrelated to our aim, non-orginal data and animal studies. We conducted second search to cover all minor methods. Results: We included 116 studies, which data is presented in Tables. We have investigated which methods can support treatment and which can be used as a stand-alone treatment. We assessed the risks to benefits of using alternative treatments. Conclusion: Alternative treatments significantly expand the options available to patients and clinicians, with many serving as adjuncts to traditional therapies. Among the methods presented, mindfulness has the most significant therapeutic potential.
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Open AccessArticle
Identifying Childhood Risk Factors for Hepatitis B with a Focus on Vertical Transmission
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Lorenza Forna, Ancuta Lupu, Laura Bozomitu, Gabriela Paduraru, Camelia Cojocariu, Carmen Anton, Irina Girleanu, Cristina Maria Muzica and Anca Trifan
Diseases 2024, 12(9), 215; https://doi.org/10.3390/diseases12090215 - 16 Sep 2024
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Background: Despite worldwide vaccination efforts, Hepatitis B virus (HBV) infection remains a significant global health burden, particularly in regions where vertical transmission is prevalent. Given Romania’s history as an endemic area for hepatitis B from the 1990s until the early 2000s and the
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Background: Despite worldwide vaccination efforts, Hepatitis B virus (HBV) infection remains a significant global health burden, particularly in regions where vertical transmission is prevalent. Given Romania’s history as an endemic area for hepatitis B from the 1990s until the early 2000s and the previously high infection rates among children, it is crucial to continually evaluate HBV infection in this population to monitor current trends, assess the long-term impact of vaccination programs, and address any remaining gaps in prevention and treatment efforts. This study aims to identify childhood risk factors associated with HBV acquisition, examining the role of maternal HBV status in child HBV infection, focusing on vertical transmission among a cohort of 654 children, with maternal infection as the independent variable and child infection as the dependent variable. Methods: We assessed potential risk factors and vaccination coverage among these children. The cohort included 148 children who tested positive for chronic hepatitis B from those 654 tested for HBsAg. Anamnestic data and vaccination history were analyzed, with particular attention to birth type and surgical interventions. Results: Of the 148 HBV-positive children, 80.4% were delivered naturally. Among these, 130 had received hepatitis B vaccination, and 5 were also given hepatitis B immunoglobulin at birth, 4 of whom were born via cesarean section. In the control group, comprising 418 vaccinated children, a lesser proportion were unvaccinated (2.2%). Documented surgical interventions included general and dental surgeries, as well as a single blood transfusion. Conclusions: The study emphasizes the need for comprehensive vaccination strategies and illuminates potential correlations between birth type and vaccination status with childhood HBV infection. Crucially, it highlights the necessity of diligent monitoring and treatment of pregnant women with HBV to prevent vertical transmission as effectively as possible.
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Open AccessCommunication
The Impact of Human Papillomavirus Infections on Recurrent Pregnancy Loss: A Review of the Literature
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Dimitra Dedousi, Anastasios Potiris, Athanasios Zikopoulos, Theodoros Karampitsakos, Spyridon Topis, Charikleia Skentou, Angeliki Gerede, Panagiotis Christopoulos, Athanasios Zachariou, Ekaterini Domali, Peter Drakakis and Sofoklis Stavros
Diseases 2024, 12(9), 214; https://doi.org/10.3390/diseases12090214 - 13 Sep 2024
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Human papillomavirus (HPV) infections are significantly associated with multiple adverse reproductive outcomes such as miscarriages. Pregnant women are more susceptible to an HPV infection and its prevalence increases as pregnancy progresses. In this present review, we summarize the existing evidence indicating the potential
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Human papillomavirus (HPV) infections are significantly associated with multiple adverse reproductive outcomes such as miscarriages. Pregnant women are more susceptible to an HPV infection and its prevalence increases as pregnancy progresses. In this present review, we summarize the existing evidence indicating the potential impact of an HPV infection on the occurrence of recurrent pregnancy loss (RPL). Comprehensive research of the literature was performed in the Medline/PubMed and Scopus databases. A total of 185 articles were identified and 40 full-text articles were assessed. Four studies were eligible to be included in this literature review. To our knowledge, this is the first review aiming to summarize the current state of evidence regarding the possible association of HPV infections and RPL. Recurrent pregnancy loss constitutes a distressing reproductive event and scientific research has made significant efforts to determine the causes and mechanisms that could lead to RPL. It is still unclear whether the papillomavirus infection is associated with an increased risk for recurrent miscarriages. Research in the field revealed conflicting results and their deductions are limited by methodological limitations. Given the high prevalence of HPV infections and their potential role in the occurrence of adverse outcomes during pregnancy, further research is required to clarify the possibility of an HPV infection being a potential risk factor for recurrent miscarriages.
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Open AccessArticle
A Multi-Pathogen Retrospective Study in Patients Hospitalized for Acute Gastroenteritis
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Antonella Zizza, Marcello Guido, Raffaella Sedile, Marzia Benelli, Milva Nuzzo, Pasquale Paladini, Anacleto Romano and Pierfrancesco Grima
Diseases 2024, 12(9), 213; https://doi.org/10.3390/diseases12090213 - 12 Sep 2024
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Acute gastroenteritis (AGE) is a gastrointestinal tract disease often caused by consuming food or water contaminated by bacteria, viruses, or parasites, that can lead to severe symptoms requiring hospitalization. A retrospective study on patients admitted for AGE between 2021 and 2023 at the
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Acute gastroenteritis (AGE) is a gastrointestinal tract disease often caused by consuming food or water contaminated by bacteria, viruses, or parasites, that can lead to severe symptoms requiring hospitalization. A retrospective study on patients admitted for AGE between 2021 and 2023 at the Pediatrics and Infectious Diseases Departments of Lecce Hospital was conducted. Demographic characteristics, year and month of admission, length of hospital stay, etiological agents, co-infections, and blood chemistry data of patients were collected. The study included 103 patients ranging in age from 0 to 15 years, with 58.25% being male. A total of 78 bacterial, 35 viral, and 7 parasitic infections were identified. The most commonly detected pathogens were Escherichia coli (38.83%), Norovirus (28.16%), Campylobacter jejuni (22.33%), and Salmonella typhi/paratyphi (10.68%). Only a few cases of Cryptosporidium (5.83%) were identified. Additionally, 17 co-infections (16.50%) were detected. Viral infections are the primary cause of hospitalization for AGE in children <5 years, while bacterial infections are more common among older patients. The significantly higher number of children <5 years old with elevated creatinine compared to children ≥5 years suggested that young children are more susceptible to dehydration than older children. Few cases of AGE were attributed to pathogens for which a vaccine has already been licensed. AGE is a serious health concern that could be effectively prevented by implementing food-based and community-level sanitation systems, as well as by increasing vaccination coverage of available vaccines and developing new effective and safe vaccines.
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Open AccessArticle
Health-Related Quality of Life among Elderly Patients in Urban Bangladesh: A Cross-Sectional Study
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Joynal Abedin Imran, Amal K. Mitra, Marzana Afrooj Ria, Tumpa Mitra, Jannatul Ferdous Konok, Sadia Akter Shuchi and Pradip Kumar Saha
Diseases 2024, 12(9), 212; https://doi.org/10.3390/diseases12090212 - 11 Sep 2024
Abstract
Quality of life (QoL) focuses on a person’s ability to live a fulfilling life. It helps in determining successful aging in the elderly population. Because of a scarcity of information regarding predictors of QoL in the elderly population in developing countries, this study
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Quality of life (QoL) focuses on a person’s ability to live a fulfilling life. It helps in determining successful aging in the elderly population. Because of a scarcity of information regarding predictors of QoL in the elderly population in developing countries, this study was undertaken to assess the overall QoL and its predictors in the elderly population in an urban setting of Bangladesh. In this cross-sectional study, 275 participants were enrolled by systematic sampling at the outpatient department of a tertiary care hospital in Dhaka, Bangladesh. Data were collected by using a pretested semi-structured standard questionnaire for QoL (OPQOL-35). Pearson’s correlation was used to assess the association between QoL and sociodemographic factors. Multivariate linear regression was conducted to identify predictors of QoL, after controlling for potential confounders. The median age of the participants (n = 275) was 65 years (range, 60 to 85; 25th and 75th percentile, 60 and 68, respectively). The majority (78%) of them were married, and 20% were widowed or divorced. The median score of QoL was 113 (25th and 75th percentile, 101 and 124, respectively). Most of the participants had very poor (bad as can be) or poor (bad) QoL. Only 7.3% were observed to have “good” QoL (scores 140 or more). Females had significantly poorer QoL scores compared to males (p < 0.001). Age, gender, educational status, smoking, and sleep duration significantly predicted QoL in a multiple regression analysis. In conclusion, the QoL of the elderly individuals in Bangladesh was very poor or poor. Future research should focus on service-oriented interventions, especially targeting women. Counseling elderly people to enhance their quality of life may include improving sleep patterns, healthy diets, regular exercise, and caring for their mental health.
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Open AccessArticle
The Use of Kidney Biomarkers, Nephrin and KIM-1, for the Detection of Early Glomerular and Tubular Damage in Patients with Acromegaly: A Case–Control Pilot Study
by
Iulia Stefania Plotuna, Melania Balas, Ioana Golu, Daniela Amzar, Roxana Popescu, Ligia Petrica, Adrian Vlad, Daniel Luches, Daliborca Cristina Vlad and Mihaela Vlad
Diseases 2024, 12(9), 211; https://doi.org/10.3390/diseases12090211 - 11 Sep 2024
Abstract
Background: Acromegaly is a rare disorder caused by excessive growth hormone (GH) secreted from a pituitary tumor. High levels of GH and insulin growth factor-1 can lead to renal hypertrophy, as well as to diabetes mellitus and hypertension, which negatively impact kidney function.
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Background: Acromegaly is a rare disorder caused by excessive growth hormone (GH) secreted from a pituitary tumor. High levels of GH and insulin growth factor-1 can lead to renal hypertrophy, as well as to diabetes mellitus and hypertension, which negatively impact kidney function. It is believed that high GH may also be involved in the onset of diabetic nephropathy, the main cause of end-stage kidney disease in developed countries. Material and methods: This case–control study was conducted on 23 acromegalic patients and on a control group represented by 21 healthy subjects. The following parameters were determined for all the subjects: serum creatinine, serum urea, estimated glomerular filtration rate (eGFR), urinary albumin/creatinine ratio (UACR), nephrin and kidney injury molecule 1 (KIM-1). Results: Patients with acromegaly showed higher levels of UACR and lower levels of eGFR as compared to healthy subjects. No significant correlations were found between clinical or biochemical parameters associated with acromegaly and nephrin or KIM-1. Conclusions: There was no glomerular or proximal tubular damage at the time of the study, as proven by the normal levels of the biomarkers nephrin and KIM-1. Studies including more patients with uncontrolled disease are needed to clarify the utility of nephrin and KIM-1 for the detection of early kidney involvement in acromegalic patients.
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Open AccessCase Report
Modified Prophylactic Donor Lymphocyte Infusion (DLI) in an Adult T Cell Lymphoma/Leukemia (ATLL) Patient—Modality of Relapse Prevention
by
Alexandra Ionete, Alexandru Bardas, Zsofia Varady, Madalina Vasilica, Orsolya Szegedi and Daniel Coriu
Diseases 2024, 12(9), 210; https://doi.org/10.3390/diseases12090210 - 11 Sep 2024
Abstract
Adult T-cell Leukemia/Lymphoma (ATLL) is a rare but aggressive malignancy associated with the human T-cell lymphotropic virus type 1 (HTLV-1). ATLL is a challenging malignancy characterized by its aggressive nature and poor prognosis. Despite advancements in treatment, relapse rates remain high. Donor lymphocyte
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Adult T-cell Leukemia/Lymphoma (ATLL) is a rare but aggressive malignancy associated with the human T-cell lymphotropic virus type 1 (HTLV-1). ATLL is a challenging malignancy characterized by its aggressive nature and poor prognosis. Despite advancements in treatment, relapse rates remain high. Donor lymphocyte infusion (DLI) is a promising therapeutic option post-hematopoietic stem cell transplantation (HSCT) to prevent relapse. However, the prophylactic use of DLI in ATLL patients remains underexplored. We report the case of a 45-year-old female diagnosed with ATLL. Following induction chemotherapy and successful HSCT, a modified prophylactic DLI regimen was administered, consisting of gradually increasing doses of donor lymphocytes. The patient demonstrated a favorable response with no significant graft-versus-host disease (GVHD) and maintained remission over a 40-month follow-up period, suggesting a potential benefit of this approach. This case highlights the potential efficacy and safety of modified prophylactic DLI in ATLL patients, warranting further investigation. Our findings suggest that modified prophylactic DLI is a viable option for ATLL patients post-HSCT, offering a balance between efficacy and safety. Future research should focus on optimizing DLI protocols and exploring biomarkers for response prediction.
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(This article belongs to the Section Oncology)
Open AccessReview
Empirical Treatments for Male Infertility: A Focus on Lifestyle Modifications and Medicines
by
Aris Kaltsas, Athanasios Zachariou, Fotios Dimitriadis, Michael Chrisofos and Nikolaos Sofikitis
Diseases 2024, 12(9), 209; https://doi.org/10.3390/diseases12090209 - 11 Sep 2024
Abstract
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Background/Objectives: Male infertility is a prevalent issue impacting numerous couples worldwide. This review aims to evaluate the effectiveness of empirical therapies for male infertility, focusing on both lifestyle modifications and medical treatments. This study provides a comprehensive overview of interventions aimed at improving
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Background/Objectives: Male infertility is a prevalent issue impacting numerous couples worldwide. This review aims to evaluate the effectiveness of empirical therapies for male infertility, focusing on both lifestyle modifications and medical treatments. This study provides a comprehensive overview of interventions aimed at improving male fertility outcomes. Methods: A thorough review of the existing literature was conducted, encompassing studies on lifestyle changes such as dietary changes, smoking cessation, alcohol moderation, and exercise. Additionally, medical treatments including selective estrogen receptor modulators, gonadotropins, aromatase inhibitors, phosphodiesterase-5 inhibitors, antioxidants, dopamine agonists, kallikrein, indomethacin, low-dose corticosteroids, alpha-blockers, and nitric oxide donors were evaluated. The study population included males diagnosed with infertility, focusing on various underlying causes. Results: Lifestyle modifications were found to have a positive impact on sperm quality. Evidence shows that a healthy diet, smoking cessation, moderate alcohol consumption, and regular exercise improve fertility outcomes. Medical treatments demonstrated significant improvements in sperm production and quality. Selective estrogen receptor modulators and gonadotropins enhanced sperm parameters. Aromatase inhibitors and phosphodiesterase-5 inhibitors specifically improved sperm motility and increased pregnancy rates. Antioxidants, such as vitamins E and C and coenzyme Q10, reduced oxidative stress and enhanced sperm counts, motility, and morphology. Dopamine agonists, particularly cabergoline, normalized prolactin levels and improved fertility outcomes. Kallikrein therapy improved sperm parameters and increased pregnancy rates. Indomethacin treatment was associated with increased sperm concentrations and motility. Low-dose corticosteroids and alpha-blockers showed variable results, and nitric oxide donors like L-arginine enhanced sperm counts and motility. Conclusions: Empirical therapies, including lifestyle modifications and medical treatments, significantly enhance sperm quality and reproductive potential. These integrated approaches are essential in improving fertility outcomes in males. However, further extensive randomized trials are necessary to definitively establish the most effective treatments.
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Open AccessSystematic Review
Prevalence and Risk Factors of Renal Artery Stenosis in Patients Undergoing Simultaneous Coronary and Renal Artery Angiography: A Systematic Review and Meta-Analysis of 31,689 Patients from 31 Studies
by
Konstantin Schwarz, Ida Straume Bah, Maximilian Will, Chun Shing Kwok, Julia Mascherbauer, Marko Kumric, Josko Bozic and Josip A. Borovac
Diseases 2024, 12(9), 208; https://doi.org/10.3390/diseases12090208 - 11 Sep 2024
Abstract
Background/Objectives: Renal artery stenosis (RAS) is associated with coronary artery disease (CAD), exacerbation of arterial hypertension, and progression to heart failure, but remains frequently unrecognized in clinical practice. Methods: We conducted a systematic review and meta-analysis of studies by pooling data
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Background/Objectives: Renal artery stenosis (RAS) is associated with coronary artery disease (CAD), exacerbation of arterial hypertension, and progression to heart failure, but remains frequently unrecognized in clinical practice. Methods: We conducted a systematic review and meta-analysis of studies by pooling data of patients undergoing CAG due to suspected or stable CAD that received a bilateral renal artery angiography. Results: A total of 31 studies with 31,689 patients were included (mean age 63.2 ± 8.7 years, 20.9% were female). Overall, 13.4% (95%CI 10.5–16.7%) of patients undergoing coronary angiography had significant RAS, with 6.5% (95% CI 4.5–8.9%) and 3.7% (95%CI 2.5–5.2%) having severe and bilateral RAS. The mean weighted proportion of patients with three-vessel coronary disease (3VD) was 25.1 (95%CI 19.6–30.9%) while 4.2% (95%CI 2.6–6.2%) had left main (LM) coronary disease. Patients with RAS compared to those without RAS were significantly older (mean difference, MD 4.2 years (95%CI 3.8–4.6)). The relative risk of RAS was greater for the female sex (risk ratio, 95%CI; RR 1.3, 1.03–1.57), presence of diabetes (RR 1.2, 1.10–1.36), arterial hypertension (RR 1.3, 1.21–1.46), dyslipidemia (RR 1.1, 1.06–1.14), peripheral artery disease (PAD) (RR 2.1, 1.40–3.16), chronic kidney disease (CKD) (RR 2.6, 2.04–3.37), 3VD (RR 1.6, 1.30–1.87), and LM disease (RR 1.8, 1.28–2.47). Smoking had a neutral effect on the risk of RAS occurrence (RR 1.0, 0.94–1.06). Conclusions: RAS is common in patients undergoing coronary angiography. CKD, PAD, older age, and severe CAD were among the strongest predictors for the presence of significant RAS.
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(This article belongs to the Section Cardiology)
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Open AccessArticle
Evaluation of the Use of Cell Lines in Studies of Selenium-Dependent Glutathione Peroxidase 2 (GPX2) Involvement in Colorectal Cancer
by
R. Steven Esworthy
Diseases 2024, 12(9), 207; https://doi.org/10.3390/diseases12090207 - 10 Sep 2024
Abstract
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Hydroperoxides (ROOHs) are known as damaging agents capable of mediating mutation, while a role as signaling agents through oxidation of protein sulfhydryls that can alter cancer-related pathways has gained traction. Glutathione peroxidase 2 (GPX2) is an antioxidant enzyme that reduces ROOHs at the
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Hydroperoxides (ROOHs) are known as damaging agents capable of mediating mutation, while a role as signaling agents through oxidation of protein sulfhydryls that can alter cancer-related pathways has gained traction. Glutathione peroxidase 2 (GPX2) is an antioxidant enzyme that reduces ROOHs at the expense of glutathione (GSH). GPX2 is noted for a tendency of large increases or decreases in expression levels during tumorigenesis that leads to investigators focusing on its role in cancer. However, GPX2 is only one component of multiple enzyme families that metabolize ROOH, and GPX2 levels are often very low in the context of these other ROOH-reducing activities. Colorectal cancer (CRC) was selected as a case study for examining GPX2 function, as colorectal tissues and cancers are sites where GPX2 is highly expressed. A case can be made for a significant impact of changes in expression levels. There is also a link between GPX2 and NADPH oxidase 1 (NOX1) from earlier studies that is seldom addressed and is discussed, presenting data on a unique association in colon and CRC. Tumor-derived cell lines are quite commonly used for pre-clinical studies involving the role of GPX2 in CRC. Generally, selection for this type of work is limited to identifying cell lines based on high and low GPX2 expression with the standard research scheme of overexpression in low-expressing lines and suppression in high-expressing lines to identify impacted pathways. This overlooks CRC subtypes among cell lines involving a wide range of gene expression profiles and a variety of driver mutation differences, along with a large difference in GPX2 expression levels. A trend for low and high GPX2 expressing cell lines to segregate into different CRC subclasses, indicated in this report, suggests that choices based solely on GPX2 levels may provide misleading and conflicting results by disregarding other properties of cell lines and failing to factor in differences in potential protein targets of ROOHs. CRC and cell line classification schemes are presented here that were intended to assist workers in performing pre-clinical studies but are largely unnoted in studies on GPX2 and CRC. Studies are often initiated on the premise that the transition from normal to CRC is associated with upregulation of GPX2. This is probably correct. However, the source normal cells for CRC could be almost any colon cell type, some with very high GPX2 levels. These factors are addressed in this study.
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