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Volume 12, October
 
 

Diseases, Volume 12, Issue 11 (November 2024) – 24 articles

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16 pages, 711 KiB  
Systematic Review
Is Osteopathic Manipulative Treatment Clinically Superior to Sham or Placebo for Patients with Neck or Low-Back Pain? A Systematic Review with Meta-Analysis
by Luis Ceballos-Laita, Sandra Jiménez-del-Barrio, Andoni Carrasco-Uribarren, Ricardo Medrano-de-la-Fuente, Román Robles-Pérez and Edzard Ernst
Diseases 2024, 12(11), 287; https://doi.org/10.3390/diseases12110287 (registering DOI) - 8 Nov 2024
Abstract
Objectives: The aim of this systematic review and meta-analysis was to compare whether osteopathic manipulative treatment (OMT) for somatic dysfunctions was more effective than sham or placebo interventions in improving pain intensity, disability, and quality of life for patients with neck pain [...] Read more.
Objectives: The aim of this systematic review and meta-analysis was to compare whether osteopathic manipulative treatment (OMT) for somatic dysfunctions was more effective than sham or placebo interventions in improving pain intensity, disability, and quality of life for patients with neck pain (NP) or low-back pain (LBP). Methods: A systematic review and meta-analysis was carried out. Searches were conducted in PubMed, Physiotherapy Evidence Database, Cochrane Library, and Web of Science from inception to September 2024. Studies applying a pragmatic intervention based on the diagnosis of somatic dysfunctions in patients with NP or LBP were included. The methodological quality was assessed with the PEDro scale. The quantitative synthesis was performed using random-effect meta-analysis calculating the standardized mean difference (SMD) with RevMan 5.4. The certainty of evidence was evaluated using GRADEPro. Results: Nine studies were included in the qualitative synthesis, and most of them showed no superior effect of OMTs compared to sham or placebo in any clinical outcome. The quantitative synthesis reported no statistically significant differences for pain intensity (SMD = −0.15; −0.38, 0.08; seven studies; 1173 patients) or disability (SMD = −0.09; −0.25, 0.08; six studies; 1153 patients). The certainty of evidence was downgraded to moderate, low, or very low. Conclusions: The findings of this study reveal that OMT is not superior to sham or placebo for improving pain, disability, and quality of life in patients with NP or LBP. Full article
13 pages, 1186 KiB  
Article
Association Between Frequency of Away-From-Home Meals and Prevalence of Inflammatory Sinonasal Diseases: A Population-Based Cross-Sectional Study
by Munsoo Han, Yujin Jeong, Sooun Kwak, Jaemin Shin and Taehoon Kim
Diseases 2024, 12(11), 286; https://doi.org/10.3390/diseases12110286 - 8 Nov 2024
Abstract
At the beginning of the COVID-19 pandemic, people had to stay at home due to quarantine, and the food delivery industry grew significantly. Concerns have been raised regarding the popularity of away-from-home (AFH) meals and their impact on health. In this study, we [...] Read more.
At the beginning of the COVID-19 pandemic, people had to stay at home due to quarantine, and the food delivery industry grew significantly. Concerns have been raised regarding the popularity of away-from-home (AFH) meals and their impact on health. In this study, we evaluated the association between the frequency of AFH meals and the prevalence of allergic rhinitis (AR) and chronic rhinosinusitis (CRS). In this cross-sectional study, the Korean National Health and Nutrition Examination Survey was reviewed from 2010 to 2019. The frequency of AFH meals was assessed as how often the respondents ate AFH meals in an average week. Those who ate AFH meals less than once per week were designated as group 1, one to four times as group 2, and five times or more as group 3. The diagnoses of AR and CRS were evaluated, and symptoms, endoscopic findings, and serum immunoglobulin E (IgE) levels were assessed. Logistic regression analyses were performed. A total of 48,515 participants were eligible. In multivariate logistic regression analysis for AR, when compared to group 1, the odds ratios (ORs) for AR in participants of group 2 (OR = 1.226, 95% confidence interval [CI] = 1.136–1.324) and group 3 (OR = 1.227, 95% CI = 1.126–1.337) were significantly higher (p < 0.0001). For CRS, group 2 (OR = 1.139, 95% CI = 1.029–1.260) and group 3 (OR = 1.210, 95% CI = 1.078–1.358) showed a significantly higher risk than group 1 (p = 0.0044). Individuals who consume AFH meals frequently might suffer less from AR or CRS if they change their dietary habits and prepare meals more often at home. Full article
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13 pages, 596 KiB  
Article
Prognostic Implications of Initial Radiological Findings of Pulmonary Fibrosis in Patients with Acute SARS-CoV-2 Infection: A Prospective Multicentric Study
by Roxana-Elena Cîrjaliu, Sri Vidhya Gurrala, Balaji Nallapati, Vamsi Krishna, Cristian Oancea, Emanuela Tudorache, Monica Marc, Felix Bratosin, Iulia Bogdan, Ovidiu Rosca, Paula Irina Barata, Laurentiu Tony Hangan, Sergiu Ioachim Chirilă and Ariadna-Petronela Fildan
Diseases 2024, 12(11), 285; https://doi.org/10.3390/diseases12110285 - 8 Nov 2024
Abstract
Pulmonary fibrosis detected during the acute phase of SARS-CoV-2 infection may significantly influence patient prognosis. This study aimed to evaluate the prognostic value of initial high-resolution computed tomography (HRCT) findings of pulmonary fibrosis in hospitalized COVID-19 patients and to examine how these findings [...] Read more.
Pulmonary fibrosis detected during the acute phase of SARS-CoV-2 infection may significantly influence patient prognosis. This study aimed to evaluate the prognostic value of initial high-resolution computed tomography (HRCT) findings of pulmonary fibrosis in hospitalized COVID-19 patients and to examine how these findings relate to disease severity and clinical outcomes, with a particular focus on the development and validation of predictive scoring systems. In this multicentric prospective cohort study from January 2023 to January 2024, 120 adult patients with confirmed SARS-CoV-2 infection requiring hospitalization were enrolled from two Romanian university hospitals. Patients were categorized based on the presence (n = 60) or absence (n = 60) of pulmonary fibrosis signs on admission HRCT scans, identified by reticular opacities, traction bronchiectasis, honeycombing, and architectural distortion. Biochemical analyses, severity scores (SOFA, APACHE II, NEWS 2), and novel compound scores combining clinical and radiological data were assessed. Patients with HRCT evidence of pulmonary fibrosis had significantly higher severity scores and worse clinical outcomes. The HRCT score alone was a strong predictor of severe COVID-19 (area under the ROC curve [AUC] = 0.885), with a best cutoff value of 9.72, yielding 85.7% sensitivity and 79.8% specificity. Compound Score 1, integrating SOFA, APACHE II, and HRCT scores, demonstrated excellent predictive performance with an AUC of 0.947, sensitivity of 92.5%, and specificity of 88.9%. Compound Score 2, combining systemic inflammation markers (SIRI, SII) and NEWS 2, also showed a strong predictive capability (AUC = 0.913), with 89.2% sensitivity and 85.7% specificity at the optimal cutoff. Regression analysis revealed that Compound Score 1 had the highest hazard ratio for severe COVID-19 outcomes (HR = 4.89; 95% CI: 3.40–7.05), indicating its superior prognostic value over individual markers and traditional severity scores. Initial HRCT findings of pulmonary fibrosis are significantly associated with increased disease severity in hospitalized COVID-19 patients. The HRCT score is a valuable prognostic tool, and, when combined with clinical severity scores into Compound Score 1, it enhances the prediction of severe COVID-19 outcomes with high sensitivity and specificity. These compound scores facilitate the early identification of high-risk patients, guiding clinical decision-making and optimizing patient management to improve outcomes. Full article
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13 pages, 233 KiB  
Article
Impact of Physician Specialty on Treatment Costs of Invasive Melanoma
by John P. Garcia, Olivia A. Ho, Syed Ali Haider, Sahar Borna, Cesar A. Gomez-Cabello, Antonio Jorge Forte and Aaron C. Spaulding
Diseases 2024, 12(11), 284; https://doi.org/10.3390/diseases12110284 - 8 Nov 2024
Viewed by 105
Abstract
Introduction: Melanoma is a deadly type of skin cancer that develops from melanocytes and can manifest on the skin or other regions of the body. Its incidence is increasing rapidly, with approximately 100,000 diagnoses and 7000 deaths per year in the US alone. [...] Read more.
Introduction: Melanoma is a deadly type of skin cancer that develops from melanocytes and can manifest on the skin or other regions of the body. Its incidence is increasing rapidly, with approximately 100,000 diagnoses and 7000 deaths per year in the US alone. We conducted a cross-sectional study with the aim of determining an association between the cost of care for invasive melanoma and the specialty involved in the treatment to adequately guide future treatment. Methods: We analyzed data from 3817 patients (2013–2018) using the Florida inpatient/outpatient dataset, CMS cost reports, and the National Plan and Provider Enumeration System. Covariates included age, sex, race/ethnicity, insurance type, region, county rurality, the number of procedures, the comorbidity index, obesity, metastatic cancer presence, hospital size, and physician volume. Multivariable mixed linear regression was used to analyze the data, and the cost was adjusted to the 2019 USD. Results: Dermatology had the largest decrease in the overall and outpatient costs compared to general surgery, followed by plastic surgery. The inpatient costs for dermatology and plastic surgery were lower than those for general surgery, but not significantly so. Conclusions: The costs associated with surgical procedures may vary depending on the specialty of the physician treating the patient. Dermatology was associated with lower treatment costs for invasive melanoma compared to other specialties, indicating that physician specialty influences the cost of care. Full article
9 pages, 435 KiB  
Article
Deterioration Patterns in Patients Admitted for Severe COPD Exacerbation
by Cristhian Alonso Correa-Gutiérrez, Zichen Ji, Irene Milagros Domínguez-Zabaleta, Javier Plaza-Hoz, Ion Gorrochategui-Mendigain, Ana López-de-Andrés, Rodrigo Jiménez-García, José Javier Zamorano-León, Luis Puente-Maestu and Javier de Miguel-Díez
Diseases 2024, 12(11), 283; https://doi.org/10.3390/diseases12110283 - 7 Nov 2024
Viewed by 240
Abstract
Background: Chronic obstructive pulmonary disease (COPD) exacerbations represent significant clinical events marked by worsening respiratory symptoms, often necessitating changes in medication or hospitalization. Identifying patterns of exacerbation and understanding their clinical implications are critical for improving patient outcomes. This study aimed to identify [...] Read more.
Background: Chronic obstructive pulmonary disease (COPD) exacerbations represent significant clinical events marked by worsening respiratory symptoms, often necessitating changes in medication or hospitalization. Identifying patterns of exacerbation and understanding their clinical implications are critical for improving patient outcomes. This study aimed to identify exacerbation patterns in COPD patients using variations in the COPD Assessment Test (CAT) scores and compare clinical characteristics and comorbidities among patients with different exacerbation patterns. Methods: An observational study was conducted involving COPD patients admitted for severe exacerbations. The administered CAT questionnaire referred to two periods: (1) the period during hospital admission and (2) the stable period two months prior to admission. Results: Fifty patients (60% male, mean age 70.5 years, standard deviation [SD] 9.6) were included; of these, eight (16%) were active smokers. Significant worsening in CAT scores during the exacerbation compared to the stable period was observed (25 vs. 13.5, p < 0.001). Three exacerbation patterns were identified: increased cough and sputum (cluster 1); increased dyspnea and activity limitation (cluster 2); and poorer sleep quality and lower energy (cluster 3). No significant differences were found regarding demographics and lung function. Conclusions: Three distinct exacerbation patterns were identified in COPD patients based on CAT score variations, suggesting that exacerbations are heterogeneous events. Future studies with larger sample sizes and prospective follow-up are necessary to validate these findings and explore their clinical and prognostic implications. Full article
(This article belongs to the Section Respiratory Diseases)
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8 pages, 6894 KiB  
Case Report
Cervical Mesonephric Adenocarcinoma Treated with Neoadjuvant Chemotherapy: A Case Report and a Literature Review
by Hiroaki Ishida, Megumi Manrai, Hiroki Egashira, Mizuki Nonaka, Nobuyuki Hiruta, Reiko Watanabe and Akiko Takashima
Diseases 2024, 12(11), 282; https://doi.org/10.3390/diseases12110282 - 7 Nov 2024
Viewed by 282
Abstract
Introduction: Cervical mesonephric ductal adenocarcinoma (MA) is an HPV-independent adenocarcinoma that occurs in middle-aged women. MA originates from remnants of the Wolffian duct that usually regress in females once the induction of sex differentiation is activated. MA is a rare disease that accounts [...] Read more.
Introduction: Cervical mesonephric ductal adenocarcinoma (MA) is an HPV-independent adenocarcinoma that occurs in middle-aged women. MA originates from remnants of the Wolffian duct that usually regress in females once the induction of sex differentiation is activated. MA is a rare disease that accounts for less than 1% of all cervical adenocarcinomas. Clinical Case: We report a case of MA in which abdominal radical hysterectomy (ARH) was performed after neoadjuvant chemotherapy (NAC). The patient was a 66-year-old woman with abnormal genital bleeding. A colposcopy examination revealed macroscopic invasive cancer. A pelvic MRI scan revealed a 53 × 26 mm tumor in the cervix, and the histological diagnosis of the cervix was endometrioid carcinoma, with the diagnosis being cervical adenocarcinoma cT1b3N0M0. One course of NAC with paclitaxel-carboplatin (PC) was administered to shrink the tumor and stop the bleeding, and ARH was performed. Postoperative histopathological diagnosis was MA. The surgical margins of the resected specimen were negative, and NAC had been effective, so the patient underwent five courses of PC therapy after surgery. There has been no recurrence 12 months after surgery. Conclusions: There is no established standard treatment, but there are reports that PC therapy is effective. It is necessary to search for effective treatments by following up and accumulating further cases. Full article
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12 pages, 1089 KiB  
Article
Occupational Physical Activity and Regular Exercise Are Inversely Correlated with Thyroid Function in Patients with Hashimoto’s Thyroiditis
by Marko Vuletić, Dean Kaličanin, Ana Barić Žižić, Maja Cvek, Sanda Sladić, Veselin Škrabić, Ante Punda and Vesna Boraska Perica
Diseases 2024, 12(11), 281; https://doi.org/10.3390/diseases12110281 - 6 Nov 2024
Viewed by 254
Abstract
Objective: We evaluated correlations of occupational physical activity (OPA) and recreational exercise (RE), respectively, with thyroid function in patients with Hashimoto’s thyroiditis (HT). Methods: We included 438 individuals with clinically diagnosed HT. Information on OPA and RE were collected through a self-report questionnaire. [...] Read more.
Objective: We evaluated correlations of occupational physical activity (OPA) and recreational exercise (RE), respectively, with thyroid function in patients with Hashimoto’s thyroiditis (HT). Methods: We included 438 individuals with clinically diagnosed HT. Information on OPA and RE were collected through a self-report questionnaire. We assessed correlations between clinical phenotypes (TSH, T3, T4, fT4, TgAb, TPOAb, thyroid volume, vitamin D) and physical activities (OPA and RE) in all HT patients (ALL) and in two severity-based subgroups of patients (MILD and OVERT). Results: The main novel findings are significant correlations between increase in OPA and (i) a decrease in fT4 (OVERT, r = −0.265, p = 0.0002 and ALL, r = −0.138, p = 0.006); (ii) an increase in TSH (ALL, r = 0.124, p = 0.014 and OVERT, r = 0.183, p = 0.013) and (iii) an increase in TPOAb antibodies (ALL, r = 0.101, p = 0.045). In contrast, we observed correlations between increase in RE and: (i) a decrease in TSH (OVERT, r = −0.238, p = 0.001); (ii) a decrease in TgAb antibodies (OVERT, r = −0.194, p = 0.01) and (iii) an increase in vitamin D levels (ALL, r = 0.146, p = 0.005 and OVERT, r = 0.173, p = 0.023). Conclusions: Our results suggest that, unlike RE, OPA correlates with decreased thyroid function and increased thyroid autoimmunity. Our study proposes that the PA health paradox also applies for the thyroid health. Full article
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14 pages, 952 KiB  
Article
The Wellbeing Thermometer in Patients with Colorectal Cancer: A Validation Study
by Marios Adamou, Okezie Uche-Ikonne and Konstantinos Kamposioras
Diseases 2024, 12(11), 280; https://doi.org/10.3390/diseases12110280 - 5 Nov 2024
Viewed by 292
Abstract
Background: Wellbeing is a valuable outcome with benefits for patients and the wider healthcare system. Different instruments are available to measure wellbeing; however, each has its own limitations. Existing wellbeing models focus mostly on a single aspect (e.g., social). The Wellbeing Thermometer (WbT) [...] Read more.
Background: Wellbeing is a valuable outcome with benefits for patients and the wider healthcare system. Different instruments are available to measure wellbeing; however, each has its own limitations. Existing wellbeing models focus mostly on a single aspect (e.g., social). The Wellbeing Thermometer (WbT) was developed based on a more holistic framework for wellbeing. Objective: The aim of this research was to validate the WbT on patients receiving treatments using a sample of patients with colorectal cancer in England. Methods: A survey, including GAD-7, PHQ-9, WHO-5, and WbT, was administered to two independent cohorts of adult patients diagnosed with colorectal cancer. The WbT consists of 25 questions/items: 5 for each domain of health, thoughts, emotions, spiritual, and social. We investigated the psychometric properties of the WbT to characterize item difficulty, discrimination, and reliability. Pearson’s correlation coefficient was used to compare WbT scores to those from other validated tools. A multivariable logistic model explored associations between WbT domains and other validated tools. Results: Cronbach’s alpha for WbT was 0.872 (95% confidence interval: 0.829–0.902), indicating good internal consistency. The item difficulty for WbT showed low scores for questions 6 (0.39) and 9 (0.49) and high scores for the other items. Item 3 in the health subgroup indicated weak discrimination towards the health item score (r = 0.35) and no discrimination towards the total score (r = 0.03). Item 1 in the spiritual subgroup showed weak discrimination towards the spiritual item score (r = 0.37). The WbT showed moderate to strong correlation with all other validated tools (r range: GAD-7, −0.49 to −0.77; PHQ-9, −0.69 to −0.83; WHO-5, 0.66 to 0.85). For Cohort 1, the WbT thought domain was associated with GAD-7 (p = 0.004) and WHO-5 (p = 0.002), and the health domain was associated with PHQ-9 (p = 0.014). For Cohort 2, the WbT thought domain was associated with GAD-7 (p = 0.02), the health domain was associated with WHO-5 (p = 0.02), and the emotion domain was associated with WHO-5 (p = 0.02). Conclusions: The WbT is a valid tool for assessing wellbeing in patients with colorectal cancer. The WbT may be a useful addition to both clinical practice and future research and may help shed light on a new area with regards to patients with cancer, specifically how they feel and function. This will ultimately increase wellbeing and reduce suffering. Full article
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9 pages, 3127 KiB  
Article
Anterior and Mid-Penile Hypospadias Repair with TIP Technique—Is It Possible with 20-Hour Catheterization?
by Vasileios Tatanis, Paraskevi Katsakiori, Theodoros Spinos, Angelis Peteinaris, Spyridon Polyzonis, Theofanis Vrettos, Panagiotis Kallidonis, Evangelos Liatsikos and George Zoupanos
Diseases 2024, 12(11), 279; https://doi.org/10.3390/diseases12110279 - 5 Nov 2024
Viewed by 297
Abstract
Background/Objectives: Several surgical procedures have been proposed for the treatment of hypospadias, a common and heterogeneous congenital abnormality in males. Most surgeons utilize either a urethral stent or bladder catheter for 2–14 days as a postoperative urine diversion method depending on the severity [...] Read more.
Background/Objectives: Several surgical procedures have been proposed for the treatment of hypospadias, a common and heterogeneous congenital abnormality in males. Most surgeons utilize either a urethral stent or bladder catheter for 2–14 days as a postoperative urine diversion method depending on the severity of each case and the surgeon’s preferences. The aim of the present study was to evaluate the feasibility of anterior and mid-penile hypospadias repair while placing the urethral catheter for only 20 h. Methods: A single-centre retrospective study was conducted, including all patients who underwent anterior or penile hypospadias repair from January 2012 to January 2023. All operations were performed based on the Tubularized Incised Plate (TIP) Urethroplasty. At the end of the operation, a 6 Fr 100% silicon catheter was stabilized. The catheter was removed 20 h postoperatively, and all patients were discharged on the first postoperative day. The primary endpoint of the study was the complication rate. Results: In total, 104 patients were enrolled. Eighty (76.9%) patients presented with distal penile hypospadias, while 24 patients (23.1%) had mid-penile hypospadias. The mean age at the operation was 20.8 ± 12.4 months, while the mean operative time was 114.2 ± 28.7 min. All the operations were successfully completed. During the follow-up period (mean duration 101.1 ± 44.8 months), complications were recorded in 16.3% of the patients. Conclusions: The application of 20-h catheterization seems to be an effective alternative with outcomes comparable to other conventional drainage approaches, as it reduces the discomfort of the patients without increased risk of complications. Full article
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14 pages, 1191 KiB  
Article
Service-Delivery Models to Increase the Uptake of Non-Communicable Disease Screening in South-Central Ethiopia: A Difference-In-Differences Analysis
by Bezawit Ketema, Adamu Addissie, Sarah Negash, Mosisa Bekele, Andreas Wienke, Mirgissa Kaba and Eva Johanna Kantelhardt
Diseases 2024, 12(11), 278; https://doi.org/10.3390/diseases12110278 - 5 Nov 2024
Viewed by 330
Abstract
Background: Screening for non-communicable diseases (NCDs) is a critical step for early detection and the prevention of consequent morbidity and mortality. To facilitate NCD screening, the Ethiopian Ministry of Health has developed screening guidelines. However, like other low- and middle-income countries, interventions to [...] Read more.
Background: Screening for non-communicable diseases (NCDs) is a critical step for early detection and the prevention of consequent morbidity and mortality. To facilitate NCD screening, the Ethiopian Ministry of Health has developed screening guidelines. However, like other low- and middle-income countries, interventions to increase the uptake of NCD-screening services in Ethiopia remain ineffective. Thus, this study aimed to determine the effectiveness of service delivery models to increase NCD-screening service uptake in south-central Ethiopia. Method: A health-facility-based quasi-experimental study design was employed to determine the effectiveness of providing a multiple-NCD-screening service in addition to social- and behavioral-change communication (SBCC) intervention to increase the uptake of NCD-screening services. The interviewer-administered structured questionnaire was adapted from previously published research and used to collect data during the baseline and end-line survey periods. A difference-in-differences analysis was used to determine the effectiveness of the intervention. Results: Compared with routine care, the availability of a multiple-NCD-screening service, together with SBCC intervention, was found to significantly increase the uptake of cervical cancer screening, clinical breast examination, blood pressure measurement, and blood glucose-measurement services, by 18, 9, 44 and 23 percent points, respectively. However, the availability of a multiple-NCD-screening service without SBCC intervention increased clinical breast-examination service uptake by 9% point and blood glucose-measurement service uptake by 18% point without increasing the uptake of cervical cancer-screening or blood pressure-measurement services. Conclusion: The integration of multiple-NCD-screening services accompanied by SBCC intervention that promotes them is an important approach for improving the uptake of NCD-screening services. Full article
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28 pages, 2049 KiB  
Review
Mitochondrial Dysfunction and Risk Factors for Noncommunicable Diseases: From Basic Concepts to Future Prospective
by Ganna Nevoit, Gediminas Jarusevicius, Maksim Potyazhenko, Ozar Mintser, Inga Arune Bumblyte and Alfonsas Vainoras
Diseases 2024, 12(11), 277; https://doi.org/10.3390/diseases12110277 - 2 Nov 2024
Viewed by 663
Abstract
Background/Objectives: Noncommunicable diseases (NCDs) are a very important medical problem. The key role of mitochondrial dysfunction (MD) in the occurrence and progression of NCDs has been proven. However, the etiology and pathogenesis of MD itself in many NCDs has not yet been clarified, [...] Read more.
Background/Objectives: Noncommunicable diseases (NCDs) are a very important medical problem. The key role of mitochondrial dysfunction (MD) in the occurrence and progression of NCDs has been proven. However, the etiology and pathogenesis of MD itself in many NCDs has not yet been clarified, which makes it one of the most serious medical problems in the modern world, according to many scientists. Methods: An extensive research in the literature was implemented in order to elucidate the role of MD and NCDs’ risk factors in the pathogenesis of NCDs. Results: The authors propose to take a broader look at the problem of the pathogenesis of NCDs. It is important to understand exactly how NCD risk factors lead to MD. The review is structured in such a way as to answer this question. Based on a systematic analysis of scientific data, a theoretical concept of modern views on the occurrence of MD under the influence of risk factors for the occurrence of NCDs is presented. This was done in order to update MD issues in clinical medicine. MD and NCDs progress throughout a patient’s life. Based on this, the review raised the question of the existence of an NCDs continuum. Conclusions: MD is a universal mechanism that causes organ dysfunction and comorbidity of NCDs. Prevention of MD involves diagnosing and eliminating the factors that cause it. Mitochondria are an important therapeutic target. Full article
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17 pages, 2088 KiB  
Article
Association Between the rs13306703 and rs8192288 Variants of the SOD3 Gene and Breast Cancer and an In Silico Analysis of the Variants’ Impact
by Martha Patricia Gallegos-Arreola, Asbiel Felipe Garibaldi-Ríos, María Teresa Magaña-Torres, Luis E. Figuera, Belinda Claudia Gómez-Meda, Guillermo Moisés Zúñiga-González, Ana María Puebla-Pérez, Irving Alejandro Carrillo-Dávila, Mónica Alejandra Rosales-Reynoso, Ingrid Patricia Dávalos-Rodríguez, Jorge I. Delgado-Saucedo and Marco Uriel López-Monroy
Diseases 2024, 12(11), 276; https://doi.org/10.3390/diseases12110276 - 2 Nov 2024
Viewed by 405
Abstract
Background/Objectives: This study investigated the association between the rs13306703 and rs8192288 variants of the superoxide dismutase 3 (SOD3) gene and breast cancer (BC) in the Mexican population, conducting both genetic and in silico analyses. Methods: 357 healthy women and 386 BC [...] Read more.
Background/Objectives: This study investigated the association between the rs13306703 and rs8192288 variants of the superoxide dismutase 3 (SOD3) gene and breast cancer (BC) in the Mexican population, conducting both genetic and in silico analyses. Methods: 357 healthy women and 386 BC patients were studied using TaqMan assays, qPCR, and RFLP-PCR. Results: The TT genotype and a recessive pattern of these variants were risk factors for BC (p < 0.05). Specifically, the TT genotype of rs13306703 was associated with metastatic lymph nodes, tumor progression (III–IV), luminal A, nonresponse to chemotherapy, and ki-67 ≥ 20% with diabetes mellitus (DM). Meanwhile, the GT genotype of rs8192288 was associated with menopause, luminal A, tumor progression (III–IV), ki-67 ≥ 20%, and a positive estrogen receptor with nonresponse to chemotherapy. Additionally, the TT genotype combined with DM was identified as a BC risk factor (p < 0.05). The TT haplotype was also found to be a risk factor for BC. In silico analysis suggested that these variants might influence SOD3 regulation by affecting transcription factors and active enhancer sites. Conclusions: The rs13306703 and rs8192288 variants of the SOD3 gene were associated with an increased risk of BC and may alter SOD3 regulation through effects on transcription factors, active enhancers, and transcription start sites, with modified motifs in breast epithelium cells. Full article
(This article belongs to the Section Oncology)
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11 pages, 564 KiB  
Review
Bone Mineral Density, C-Terminal Telopeptide of Type I Collagen, and Osteocalcin as Monitoring Parameters of Bone Remodeling in CML Patients Undergoing Imatinib Therapy: A Basic Science and Clinical Review
by Nurita Indarwulan, Merlyna Savitri, Ami Ashariati, Siprianus Ugroseno Yudho Bintoro, Muhammad Noor Diansyah, Putu Niken Ayu Amrita and Pradana Zaky Romadhon
Diseases 2024, 12(11), 275; https://doi.org/10.3390/diseases12110275 - 2 Nov 2024
Viewed by 396
Abstract
Background: Chronic myeloid leukemia (CML) is one of the most commonly found types of myeloproliferative neoplasms, characterized by increased proliferation of granulocytic cells without losing their differentiation ability. Imatinib, a tyrosine kinase inhibitor (TKI), can be effectively used as therapy for CML. However, [...] Read more.
Background: Chronic myeloid leukemia (CML) is one of the most commonly found types of myeloproliferative neoplasms, characterized by increased proliferation of granulocytic cells without losing their differentiation ability. Imatinib, a tyrosine kinase inhibitor (TKI), can be effectively used as therapy for CML. However, Imatinib can affect bone turnover thus having clinical implications on the bones of CML patients undergoing long-term Imatinib therapy. However, parameters that can accurately describe the bone condition in CML patients receiving Imatinib still need further study. A combination of imaging techniques such as bone mineral density (BMD) and bone turnover activity markers such as C-terminal telopeptide of type I collagen (CTX-1) and osteocalcin has the potential to be used as monitoring parameters for bone density abnormalities in CML patients receiving Imatinib. Objectives: This article explains the rationale for using BMD, CTX-1, and osteocalcin as monitoring parameters of bone remodeling in CML patients receiving Imatinib. Results: First, the physiological process of bone turnover will be explained. Then, we describe the role of tyrosine kinase in bone metabolism. Next, the impact of Imatinib on BMD, CTX-1, and osteocalcin will be explained. Conclusion: The assessment of bone health of CML patients on Imatinib should include both BMD tests and bone turnover marker assays such as CTX-1 and osteocalcin. Full article
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13 pages, 3367 KiB  
Article
The Effects of Prophylactic Laxative Use on Critically Ill Patients Requiring Mechanical Ventilation: A Retrospective Cohort Study
by Heqing Tao, Ligang Liu, Weipeng Lu, Ziyan Ni, Xueqing Chen, Milap C. Nahata and Liang Peng
Diseases 2024, 12(11), 274; https://doi.org/10.3390/diseases12110274 - 1 Nov 2024
Viewed by 350
Abstract
Objective: To investigate the effects of prophylactic use of stimulant laxatives and/or docusate on the clinical outcomes in critically ill patients who required mechanical ventilation (MV). Methods: A single-center, retrospective, cohort study was conducted. Patients who received MV in the first [...] Read more.
Objective: To investigate the effects of prophylactic use of stimulant laxatives and/or docusate on the clinical outcomes in critically ill patients who required mechanical ventilation (MV). Methods: A single-center, retrospective, cohort study was conducted. Patients who received MV in the first 24 h after intensive care unit (ICU) admission were enrolled and divided into four groups: non-laxative, stimulant laxatives, docusate, and stimulant laxatives–docusate combination. The primary outcome was in-hospital mortality. The major secondary outcomes included ICU-free days and ventilator-free days at 28 days; the other outcomes were ventilation-associated pneumonia (VAP), enterobacterial infection, diarrhea, and electrolyte disturbances. Inverse probability treatment weighting (IPTW) was used to adjust for confounders. Results: A total of 2129 patients were included in this study, 263 of whom received stimulant laxatives, 253 received docusate, 368 received a combination, and 1245 did not receive any laxative. The prophylactic use of docusate was associated with a decreased risk of in-hospital mortality (OR: 0.59, 95% CI 0.42 to 0.83, p = 0.002) and VAP (OR: 0.62, 95% CI 0.47 to 0.81, p = 0.001). It was also associated with an increase in ICU-free days at 28 days (β: 0.89, 95% CI 0.83 to 0.95, p < 0.001). Importantly, laxatives prophylaxis was not associated with increased risks of diarrhea, electrolyte disturbances, and enterobacterial infections. Conclusions: Prophylactic use of docusate may improve certain prognoses and does not demonstrate any adverse events. However, further research is necessary to determine the optimal regimen and dosage of prophylactic laxatives in this specific population. Full article
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22 pages, 2388 KiB  
Review
Frailty and Visual Impairment in Elderly Individuals: Improving Outcomes and Modulating Cognitive Decline Through Collaborative Care Between Geriatricians and Ophthalmologists
by Daniel Dinarvand, Johann Panthakey, Ahmed Hassan and Mohamed H. Ahmed
Diseases 2024, 12(11), 273; https://doi.org/10.3390/diseases12110273 - 1 Nov 2024
Viewed by 416
Abstract
Introduction: As life expectancy increases, the prevalence of frailty and eye diseases (cataracts, glaucoma, age-related macular degeneration (AMD), and diabetic retinopathy) in the elderly global population is rising. Eye diseases and visual impairment not only contribute to a high incidence of falls, [...] Read more.
Introduction: As life expectancy increases, the prevalence of frailty and eye diseases (cataracts, glaucoma, age-related macular degeneration (AMD), and diabetic retinopathy) in the elderly global population is rising. Eye diseases and visual impairment not only contribute to a high incidence of falls, fractures, depression, and social isolation but they also herald cognitive decline and frailty (vision–cognitive impairment). Methods: This narrative review explores the relationship between eye diseases, visual impairment, and frailty, their association with cognitive decline, the current approaches in identifying and managing these conditions and the potential role of interdisciplinary care models. Relevant articles were identified by searching the major databases. Result: Eye diseases are common in elderly individuals and can lead to visual impairment and subsequently contribute to falls, fractures, depression, and social isolation. Visual impairment is strongly linked to cognitive decline, which is a key component of frailty. Reduced sensory input from vision loss leads to decreased cognitive stimulation, reduced engagement in activities such as reading, problem-solving, executive function, attention, and social interactions, which are crucial for maintaining cognitive health. This can lead to a form of “sensory deprivation”, which accelerates neurodegenerative processes. As cognitive decline progresses, it creates a feedback loop where individuals may struggle to manage their health, adhere to treatment regimens, or seek timely medical care, exacerbating both cognitive impairment and frailty. Additionally, subjective cognitive decline (SCD) is common in older adults with vision loss and may precede clinical dementia. This sense of declining cognitive ability can worsen anxiety and depression, further contributing to frailty. Early intervention has the potential to mitigate the cognitive effects of vision loss (vision–cognitive impairment). Conclusions: Ophthalmologists should play an important role in detecting frailty associated with vision loss. Incorporating frailty assessments into ophthalmic practice can facilitate referrals to geriatric care and early interventions, improving patient outcomes. Geriatricians should be vigilant in identifying visual impairment and referring patients for appropriate ophthalmic investigation and management. Regular vision assessments should be part of comprehensive geriatric evaluations. Future research will assess the beneficial role of community geriatricians in detecting frailty and vision–cognitive impairment. An interdisciplinary and collaborative approach between ophthalmologists and geriatricians can lead to earlier detection, comprehensive management, and improved outcomes in frailty, eye diseases, and cognitive function. Full article
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16 pages, 1399 KiB  
Systematic Review
Impact of Coconut Oil and Its Bioactive Metabolites in Alzheimer’s Disease and Dementia: A Systematic Review and Meta-Analysis
by Duaa Bafail, Abrar Bafail, Norah Alshehri, Noura Hamdi Alhalees and Ahmad Bajarwan
Diseases 2024, 12(11), 272; https://doi.org/10.3390/diseases12110272 - 1 Nov 2024
Viewed by 366
Abstract
Background/Objectives: Alzheimer’s disease (AD) is the most common form of dementia and affects approximately 50 million individuals worldwide. Interest in coconut oil (CO) as a potential dietary intervention has surged owing to its substantial medium-chain triglyceride (MCT) content. Therefore, sustaining cognitive function [...] Read more.
Background/Objectives: Alzheimer’s disease (AD) is the most common form of dementia and affects approximately 50 million individuals worldwide. Interest in coconut oil (CO) as a potential dietary intervention has surged owing to its substantial medium-chain triglyceride (MCT) content. Therefore, sustaining cognitive function and potentially slowing the progression of AD are crucial. This systematic review and meta-analysis evaluated the effects of CO and its bioactive metabolites on AD and dementia. Methods: The review protocol is registered in PROSPERO (CRD42023450435). Relevant research articles published between January 2015 and June 2023 were systematically searched. Seven studies met the predetermined eligibility criteria. Thematic analysis was utilized to synthesis the data about the qualitative features, while meta-analysis was employed for the quantitative findings. A meta-analysis was conducted to assess the standardized mean difference (SMD) and the corresponding 95% confidence interval (CI). Forest plots were generated using Review Manager 5.3 (RevMan 5.3). Results: The analysis revealed that all studies showed consistent results regarding the effects of CO on cognitive scores, with little variability in the true effects of CO on cognitive scores across the studies included in the meta-analysis. Conclusions: CO improved cognitive scores in patients with AD compared with those in the control group (p < 0.05). The results of this study add to the increasing amount of evidence indicating that MCTs found in CO might be a way to improve abilities and potentially slow the advancement of AD. The findings of this study may encourage the development of targeted dietary strategies and interventions for individuals at risk of or diagnosed with AD. Full article
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10 pages, 6463 KiB  
Article
Kikuchi–Fujimoto Disease: A Case Series and Review of the Literature
by Arunima Deb, Vielka Fernandez, Ekim Kilinc, Hisham F. Bahmad, Nicholas S. Camps, Vathany Sriganeshan and Ana Maria Medina
Diseases 2024, 12(11), 271; https://doi.org/10.3390/diseases12110271 - 1 Nov 2024
Viewed by 373
Abstract
Kikuchi–Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a rare, self-limiting disorder characterized by fever typically lasting for 1 week up to 1 month and painful necrotizing lymphadenopathy, primarily affecting young adults of Asian ancestry. Although the exact cause remains unclear, [...] Read more.
Kikuchi–Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a rare, self-limiting disorder characterized by fever typically lasting for 1 week up to 1 month and painful necrotizing lymphadenopathy, primarily affecting young adults of Asian ancestry. Although the exact cause remains unclear, infectious and autoimmune mechanisms have been implicated in the pathogenesis of the disease. In this case series, we aim to describe the histopathological features of KFD over a ten-year period at Mount Sinai Medical Center of Florida, and review the current understanding of its pathogenesis, clinical presentation, diagnosis, and management. A retrospective review of our pathology database between January 2013 and May 2024 was performed to identify patients diagnosed with KFD at our institution. Eight cases of KFD were identified, with a mean age of 35 years (range 24–49) and slight male predilection (5:3). Three patients exhibited leukopenia, and two had concurrent HIV infection. One patient developed systemic lupus erythematosus (SLE), and another developed IgA nephropathy during follow-up. Histopathological examination revealed the characteristic features of KFD, including lymph node architectural effacement, histiocytic infiltration, and necrosis. In conclusion, KFD remains a diagnostic challenge due to its overlapping clinical features with other infectious and autoimmune diseases, particularly SLE. While most cases resolve spontaneously, long-term follow-up is warranted due to the potential for recurrence and autoimmune associations. Full article
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9 pages, 251 KiB  
Article
Changes in the Presentation and Severity of Acute Appendicitis: A Comparison of the COVID-19 Pandemic and Post-Pandemic Eras
by Mohammed Bu Bshait, Ahmed Kamal, Abdullah Almaqhawi, Ahmad Al Abdulqader, Haytham Alarfaj, Mohammed Albarqi, Nawaf Al Khashram, Nora AlMssallem, Fatimah Aljalal, Sara Aljaafari, Abtesam Alnaim, Sharifah Alzabdawi and Ahmad Odeh
Diseases 2024, 12(11), 270; https://doi.org/10.3390/diseases12110270 - 1 Nov 2024
Viewed by 383
Abstract
Background: The restrictions during the COVID-19 pandemic, along with people’s avoidance of hospital exposure, led to a reduction in medical consultations and delays in care seeking. Numerous reports have shown a decrease in the number of appendectomies performed and an increased incidence of [...] Read more.
Background: The restrictions during the COVID-19 pandemic, along with people’s avoidance of hospital exposure, led to a reduction in medical consultations and delays in care seeking. Numerous reports have shown a decrease in the number of appendectomies performed and an increased incidence of complicated appendicitis during the pandemic. We aimed to investigate these findings during and after the cessation of COVID-19-related restrictions. Methods: This retrospective cohort study was conducted in a single centre, including consecutive adult patients who underwent appendectomy for acute appendicitis during three different periods: the pandemic cohort (7 March–30 June 2020), the post-pandemic cohort (7 March–30 June 2022) and the pre-pandemic control cohort (7 March–30 June 2019). A total of 103 patients were included and divided into the three cohorts. The patients’ demographics, clinical presentation, investigations, and operative data were compared. Results: The three groups did not differ significantly regarding demographics, clinical characteristics, or the number of appendectomies. However, a duration of symptoms at presentation of less than 2 days was significantly more frequent in the pre-pandemic and post-pandemic groups than the pandemic group (p = 0.001). The interval between admission and operation was significantly shorter in the post-pandemic group than in the pandemic group. The pandemic group also showed a higher incidence of complicated appendicitis compared to the others (p = 0.025). Conclusions: The termination of the COVID-19 pandemic and its related restrictions promoted the earlier presentation of acute appendicitis cases and lowered the incidence of complicated appendicitis. This emphasises the impact of the COVID-19 pandemic on acute appendicitis. Full article
(This article belongs to the Special Issue COVID-19 and Global Chronic Disease 2024: The Post-pandemic Era)
16 pages, 1971 KiB  
Review
Molecular Mechanisms Responsible for Mesenchymal Stem Cell-Dependent Attenuation of Tear Hyperosmolarity and Immune Cell-Driven Inflammation in the Eyes of Patients with Dry Eye Disease
by Carl Randall Harrell, Valentin Djonov, Ana Volarevic, Aleksandar Arsenijevic and Vladislav Volarevic
Diseases 2024, 12(11), 269; https://doi.org/10.3390/diseases12110269 - 26 Oct 2024
Viewed by 588
Abstract
Background: Dry eye disease (DED) is a chronic condition characterized by a decrease in tear production or an increase in tear evaporation, leading to inflammation and damage of the ocular surface. Dysfunction of ion channels, tear hyperosmolarity and immune cell-driven inflammation create a [...] Read more.
Background: Dry eye disease (DED) is a chronic condition characterized by a decrease in tear production or an increase in tear evaporation, leading to inflammation and damage of the ocular surface. Dysfunction of ion channels, tear hyperosmolarity and immune cell-driven inflammation create a vicious circle responsible for the pathological changes in the eyes of DED patients. Mesenchymal stem cells (MSCs) are adult, rapidly proliferating stem cells that produce a large number of immunoregulatory, angiomodulatory, and growth factors that efficiently reduce tear hyperosmolarity-induced pathological changes, inhibit harmful immune response, and provide trophic support to the injured corneal and conjuctival epithelial cells, goblet cells and acinar cells in lacrimal glands of DED patients. Methods: An extensive research in the literature was implemented in order to elucidate the role of MSCs in the attenuation of tear hyperosmolarity and eye inflammation in patients suffering from DED. Results: Findings obtained in preclinical and pilot clinical studies demonstrated that MSCs reduced tear hyperomsolaity-induced pathological changes and suppressed immune cell-driven eye inflammation. Additionally, MSC-based therapy managed to successfully address the most severe DED-related conditions and complications. Conclusions: MSCs should be considered as potentially new therapeutic agents for the treatment of severe DED. Full article
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11 pages, 2770 KiB  
Article
The Change in Public Perception and Knowledge Acquisition Methods of Chronic Kidney Disease Among General Population in Okayama Prefecture, Japan
by Ryoko Umebayashi, Natsumi Matsuoka-Uchiyama, Hitoshi Sugiyama, Kenichi Shikata, Naoki Kashihara, Hirofumi Makino, Jun Wada and Haruhito A. Uchida
Diseases 2024, 12(11), 268; https://doi.org/10.3390/diseases12110268 - 25 Oct 2024
Viewed by 462
Abstract
CKD public education plays a very important role in effective chronic kidney disease (CKD) countermeasure. We have been conducting CKD public education programs in Okayama Prefecture since 2007. Here, we aimed to examine the actual status of CKD perceptance and changes in CKD [...] Read more.
CKD public education plays a very important role in effective chronic kidney disease (CKD) countermeasure. We have been conducting CKD public education programs in Okayama Prefecture since 2007. Here, we aimed to examine the actual status of CKD perceptance and changes in CKD perceptance due to these education programs. The study was conducted on individuals who underwent health checkups at 12 medical institutions across five medical regions in Okayama Prefecture between 1 October and 30 November in 2015, 2019, and 2023. The results showed that overall CKD perceptance has improved over time (perceptance of “CKD” 4% to 7%, “chronic kidney disease” 27% to 34%, 2015 vs. 2023). “Chronic kidney disease” was more commonly recognized than “CKD”, and the elderly were more aware of the disease than younger people. The CKD perceptance improved across all age groups. However, the rate of CKD perceptance is still low, especially among young people. Previously, newspapers were the second most common resource of information about CKD after television. However, the Internet has recently replaced newspapers as the second most common source of information, especially among younger people. Understanding of the exact diagnosis of CKD also remains insufficient. It is necessary to continue more effective CKD public education programs through more intelligible terminology and information sources that match the demographics of target population. Full article
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14 pages, 712 KiB  
Article
Relationship Between Altered Plasma-Free Amino Acid Levels and Hyperuricemia in Dyslipidemia Without and With Hypertension
by Rie Watanabe, M. H. Mahbub, Natsu Yamaguchi, Ryosuke Hase, Sunao Wada and Tsuyoshi Tanabe
Diseases 2024, 12(11), 267; https://doi.org/10.3390/diseases12110267 - 24 Oct 2024
Viewed by 461
Abstract
Background: Investigating the association between plasma-free amino acids (PFAAs) and hyperuricemia (HU) in dyslipidemia (DL) and dyslipidemia with hypertension (DH) is crucial, as it could provide valuable insights into the pathophysiology of these conditions and contribute to the development of targeted prevention and [...] Read more.
Background: Investigating the association between plasma-free amino acids (PFAAs) and hyperuricemia (HU) in dyslipidemia (DL) and dyslipidemia with hypertension (DH) is crucial, as it could provide valuable insights into the pathophysiology of these conditions and contribute to the development of targeted prevention and management strategies. Therefore, in this study, we aimed to elucidate the associations between PFAAs and HU in individuals with DL and DH. Methods: We quantified PFAAs and uric acid levels among Japanese healthy subjects (n = 1311; HU, n = 57), subjects with DL (n = 1483; HU, n = 219), and subjects with DH (n = 1159; HU, n = 237). Results: The concentrations of most PFAAs showed significant differences between subjects without and with HU across all groups (p < 0.05 to 0.001). Adjusted logistic regression analyses revealed that certain PFAAs were consistently positively or negatively associated with HU across all groups. Specifically, in the DL group, alanine, tryptophan, and tyrosine showed significant positive associations with HU, while in the DH group, citrulline and glutamate exhibited similar positive associations (p < 0.05 to 0.001). Conversely, threonine in the healthy group (p < 0.05) and glutamine in the DL group (p < 0.05) demonstrated significant inverse associations with HU. Conclusions: This study revealed a potential close relationship between alterations in PFAA profiles and HU in dyslipidemia, without and with hypertension. The findings warrant further research to elucidate the role of altered amino acid and uric acid levels as potential disease biomarkers and therapeutic targets. Full article
(This article belongs to the Section Gastroenterology)
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9 pages, 230 KiB  
Review
Exploring the Relationship Between Hypertension and Cerebral Microvascular Disease
by Vasiliki Katsi, Andreas Mavroudis, Ioannis Liatakis, Manousiadis Konstantinos and Konstantinos Tsioufis
Diseases 2024, 12(11), 266; https://doi.org/10.3390/diseases12110266 - 23 Oct 2024
Viewed by 469
Abstract
Background/Objectives: Hypertension exerts negative effects on the vasculature representing a key risk factor for cardiovascular disorders, cerebral and Cerebral Small Vessel Disease (CSVD). Methods: An extensive research in the literature was implemented in order to elucidate the role of hypertension in the pathogenesis [...] Read more.
Background/Objectives: Hypertension exerts negative effects on the vasculature representing a key risk factor for cardiovascular disorders, cerebral and Cerebral Small Vessel Disease (CSVD). Methods: An extensive research in the literature was implemented in order to elucidate the role of hypertension in the pathogenesis of CSVD. Results: Hypertension-mediated vascular dysfunction and chronic cerebral hypoperfusion are closely linked to CSVD. CSVD encompasses a wide range of lesions depicted on brain Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) scans. The presenting symptoms and clinical course are highly variable, as a significant proportion of patients remain asymptomatic. Nevertheless, CSVD is associated with an increased risk of stroke, dementia and mobility disorders. Various randomised controlled trials have been implemented trying to shed light on the effect of vascular risk-modifying agents and lifestyle interventions on the prevention and treatment of small vessel disease. Conclusions: Hypertension has a pivotal role in the pathogenesis of CSVD. However, further research is required for a better understanding of the relationship between blood pressure levels and CSVD progression. Full article
16 pages, 1948 KiB  
Article
Assessment of Kidney Function Discrepancies in Pediatric CAKUT Patients Using Bedside Schwartz Equation and Renal Scintigraphy
by Ruxandra Maria Steflea, Geethiikha Jammula, Akhila Kanka, Caius Glad Streian, Felix Bratosin, Avram Cecilia Roberta, Monica Susan, Octavia Oana Harich, Casiana Boru, Sonia Tanasescu, Dan-Mihai Cristescu, Andreea-Mihaela Banta, Gabriela Doros and Bogdan Feciche
Diseases 2024, 12(11), 265; https://doi.org/10.3390/diseases12110265 - 23 Oct 2024
Viewed by 413
Abstract
Background and Objectives: This research explores the correlation between estimated glomerular filtration rates (eGFR) obtained using the bedside Schwartz equation, and renal scintigraphy in children with congenital kidney and urinary tract abnormalities (CAKUT). The objective is to enhance understanding and management of renal [...] Read more.
Background and Objectives: This research explores the correlation between estimated glomerular filtration rates (eGFR) obtained using the bedside Schwartz equation, and renal scintigraphy in children with congenital kidney and urinary tract abnormalities (CAKUT). The objective is to enhance understanding and management of renal health in this demographic by analyzing kidney size-function relationships. Methods: A retrospective observational analysis was performed on 94 pediatric CAKUT patients at the “Louis Turcanu” Emergency Hospital for Children, Timisoara. Kidney function data, extracted from medical records, were evaluated using the Schwartz equation, renal scintigraphy, and the gold standard iohexol clearance. Ethical approval was secured for the study, which employed descriptive and inferential statistical methods, including t-tests and correlation coefficients, to compare eGFR values. Results: Significant variances were found in eGFRs across different body surface area (BSA) percentiles. For instance, the eGFR for the right kidney in the 25th–50th BSA percentile (102.02 ± 41.52 mL/min/BSA) was notably higher than that of the left (35.60 ± 26.05 mL/min/BSA; p = 0.01). The overall sample reflected a higher eGFR in the right kidney (76.03 ± 40.91 mL/min/BSA) compared to the left (57.46 ± 35.91 mL/min/BSA; p = 0.02). Additionally, a strong positive Pearson correlation (r = 0.80, p = 0.02) was found between scintigraphy and ultrasound measures in the 50th–75th percentiles for left renal percentiles, demonstrating consistent patterns across different evaluations of kidney function. Conclusions: This comparison indicates a complex relationship between eGFR values and kidney size, suggesting potential inaccuracies in standard bedside eGFR measurements for pediatric CAKUT patients. The findings underscore the necessity for accurate diagnostic tools specifically designed for pediatric applications and advocate for the integration of multiple diagnostic techniques to improve clinical management. Full article
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15 pages, 290 KiB  
Review
Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine
by Cecilia Salzillo and Andrea Marzullo
Diseases 2024, 12(11), 264; https://doi.org/10.3390/diseases12110264 - 23 Oct 2024
Viewed by 470
Abstract
Hereditary aortopathies are a group of rare genetic diseases affecting the aorta and its major branches, and they represent a cause of sudden cardiac death. These pathologies are classified into syndromic hereditary aortopathies and non-syndromic hereditary aortopathies. The epidemiology of hereditary aortopathies varies [...] Read more.
Hereditary aortopathies are a group of rare genetic diseases affecting the aorta and its major branches, and they represent a cause of sudden cardiac death. These pathologies are classified into syndromic hereditary aortopathies and non-syndromic hereditary aortopathies. The epidemiology of hereditary aortopathies varies according to the specific genetic condition involved; however, these disorders are believed to account for a significant proportion of sudden cardiac death in young individuals with a family history of inherited cardiovascular conditions. The causes of hereditary aortopathies are primarily genetic, with pathogenic variants in various genes encoding structural proteins of the vascular wall, leading to dissection, aneurysms, rupture, and ultimately sudden cardiac death. When the cause of death remains unknown after an autopsy, it is referred to as sudden unexplained death, and post-mortem genetic testing, known as a molecular autopsy, is crucial to confirm hereditary aortopathies and assess the genetic risk in the patient’s relatives. This helps to facilitate diagnostic and therapeutic pathways and/or implement monitoring strategies to prevent sudden cardiac death. In this state-of-the-art review, we focus on syndromic and non-syndromic hereditary aortopathies causing sudden cardiac death in the young and explore preventive strategies for affected family members. Full article
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