Journal Description
Diseases
Diseases
is an international, peer-reviewed, open access, multidisciplinary journal which focuses on the latest and outstanding research on diseases and conditions published monthly online by MDPI. The first issue is released in 2013.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High visibility: indexed within Scopus, ESCI (Web of Science), PubMed, PMC, CAPlus / SciFinder, and other databases.
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 18.8 days after submission; acceptance to publication is undertaken in 2.6 days (median values for papers published in this journal in the second half of 2023).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
- Sections: published in 7 topical sections.
Impact Factor:
3.7 (2022)
Latest Articles
Feasibility of Provision and Vaccine Hesitancy at a Central Hospital COVID-19 Vaccination Site in South Africa after Four Waves of the Pandemic
Diseases 2024, 12(6), 113; https://doi.org/10.3390/diseases12060113 - 24 May 2024
Abstract
Background: As mortality declined significantly during the fourth and fifth waves compared to previous waves, the question of the future role of COVID-19 vaccination arose among both experts and the public in South Africa. Turning attention away from the general public, now considered
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Background: As mortality declined significantly during the fourth and fifth waves compared to previous waves, the question of the future role of COVID-19 vaccination arose among both experts and the public in South Africa. Turning attention away from the general public, now considered to be at very low risk of severe COVID-19 disease, a commonly held view was that the vaccination campaign should focus only on those who remain highly vulnerable to severe disease and death from COVID-19. Primary amongst this group are patients with common chronic diseases attending hospital outpatient departments. We hypothesized that providing COVID-19 vaccinations on-site at a central hospital will increase uptake for the patients with co-morbid chronic conditions who need them most in the Omicron phase of the pandemic. Aim: Evaluate the acceptability, need, and uptake of a hospital-based vaccination site for patients attending the medical hospital outpatient departments. Objectives: To assess vaccination uptake, coverage, and hesitancy in people attending a central hospital, to determine factors associated with and influencing vaccination uptake, and to document implementation and assess acceptability of the vaccination project among staff and persons attending the hospital. Methods: Mixed-methods study using quantitative and qualitative methods. Results: Of the 317 participants enrolled in the study, 229 (72%) had already received at least one dose of the COVID-19 vaccine. A total of 296 participants were eligible for a first vaccination, additional vaccination, or booster vaccination according to the South African Department of Health guidelines. Of those previously vaccinated, 65% opted for an additional dose on the day it was offered (same day). Only 13 previously unvaccinated participants (15% of vaccine naïve participants) opted for vaccination, increasing vaccine coverage with at least one dose from 72% to 76%. Approximately 24% (n = 75) of all participants refused vaccination (vaccine hesitant). Variables tested for an association with vaccination status demonstrated that age reached statistical significance. Emerging themes in the qualitative analysis included perceptions of vulnerability, vaccine safety and efficacy concerns, information gaps regarding vaccinations, the value of convenience in the decision to vaccinate, and the role of health promoters. Conclusions: This study has shown that it is logistically acceptable to provide a vaccination site at a large hospital targeting patients attending outpatient services for chronic medical conditions. This service also benefits accompanying persons and hospital staff. Access and convenience of the vaccination site influence decision-making, increasing the opportunity to vaccinate. However, vaccine hesitancy is widespread with just under one-quarter of all those offered vaccinations remaining unvaccinated. Strengthening health education and patient–clinician engagement about the benefits of vaccination is essential to reach highly vulnerable populations routinely attending hospital outpatient departments with an appropriate vaccination program.
Full article
Open AccessReview
Wernicke Encephalopathy Caused by Avoidance-Restrictive Food Intake Disorder in a Child: A Case-Based Review
by
Ida Turrini, Clotilde Guidetti, Ilaria Contaldo, Silvia Pulitanò, Donato Rigante and Chiara Veredice
Diseases 2024, 12(6), 112; https://doi.org/10.3390/diseases12060112 - 24 May 2024
Abstract
Background: Wernicke encephalopathy (WE) is an acute and potentially fatal neuropsychiatric disorder resulting from thiamine deficiency: its etiology and clinical presentation can be heterogeneous and arduously recognized, especially in children and adolescents. Case presentation: An 8-year-old girl arrived to the emergency room with
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Background: Wernicke encephalopathy (WE) is an acute and potentially fatal neuropsychiatric disorder resulting from thiamine deficiency: its etiology and clinical presentation can be heterogeneous and arduously recognized, especially in children and adolescents. Case presentation: An 8-year-old girl arrived to the emergency room with ataxic gait, nystagmus, and mental confusion after a 10-day history of repeated severe vomiting; her recent clinical history was characterized by restricted nutrition due to a choking phobia, which caused substantial weight loss. Brain magnetic resonance imaging revealed a bilaterally increased T2 signal in the medial areas of the thalami and cerebral periaqueductal region. Diagnosis of WE based on clinical and neuroradiological findings was established and confirmed after labwork showing low serum thiamine. Following psychiatric evaluation, the patient was also diagnosed with avoidance-restrictive food intake disorder (ARFID), which required starting cognitive behavioral therapy and introducing aripiprazole. The patient displayed improvement of the radiological findings after one month and complete resolution of her neurological symptoms and signs. Conclusions: Eating disorders like ARFID might forerun acute signs of WE; this possibility should be considered even in pediatric patients, especially when atypical neurological pictures or feeding issues come out.
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(This article belongs to the Topic Inflammation: The Cause of all Diseases 2.0)
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Open AccessSystematic Review
Prognostic Factors Associated with Breast Cancer-Specific Survival from 1995 to 2022: A Systematic Review and Meta-Analysis of 1,386,663 Cases from 30 Countries
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Hanif Abdul Rahman, Siti Nurzaimah Nazhirah Zaim, Ummi Salwa Suhaimei and Al Amin Jamain
Diseases 2024, 12(6), 111; https://doi.org/10.3390/diseases12060111 - 23 May 2024
Abstract
Breast cancer is the fifth-ranked cancer globally. Despite early diagnosis and advances in treatment, breast cancer mortality is increasing. This meta-analysis aims to examine all possible prognostic factors that improve/deteriorate breast cancer-specific survival. MEDLINE, PubMed, ScienceDirect, Ovid, and Google Scholar were systematically searched
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Breast cancer is the fifth-ranked cancer globally. Despite early diagnosis and advances in treatment, breast cancer mortality is increasing. This meta-analysis aims to examine all possible prognostic factors that improve/deteriorate breast cancer-specific survival. MEDLINE, PubMed, ScienceDirect, Ovid, and Google Scholar were systematically searched until September 16, 2023. The retrieved studies from 1995 to 2022 accumulated 1,386,663 cases from 30 countries. A total of 13 out of 22 prognostic factors were significantly associated with breast cancer-specific survival. A random-effects model provided a pooled estimate of the top five poorest prognostic factors, including Stage 4 (HR = 12.12; 95% CI: 5.70, 25.76), followed by Stage 3 (HR = 3.42, 95% CI: 2.51, 4.67), a comorbidity index ≥ 3 (HR = 3.29; 95% CI: 4.52, 7.35), the poor differentiation of cancer cell histology (HR = 2.43; 95% CI: 1.79, 3.30), and undifferentiated cancer cell histology (HR = 2.24; 95% CI: 1.66, 3.01). Other survival-reducing factors include positive nodes, age, race, HER2-receptor positivity, and overweight/obesity. The top five best prognostic factors include different types of mastectomies and breast-conserving therapies (HR = 0.56; 95% CI: 0.44, 0.70), medullary histology (HR = 0.62; 95% CI: 0.53, 0.72), higher education (HR = 0.72; 95% CI: 0.68, 0.77), and a positive estrogen receptor status (HR = 0.78; 95% CI: 0.65, 0.94). Heterogeneity was observed in most studies. Data from developing countries are still scarce.
Full article
(This article belongs to the Section Oncology)
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Open AccessReview
Early- and Late-Onset Alzheimer’s Disease: Two Sides of the Same Coin?
by
César A. Valdez-Gaxiola, Frida Rosales-Leycegui, Abigail Gaxiola-Rubio, José Miguel Moreno-Ortiz and Luis E. Figuera
Diseases 2024, 12(6), 110; https://doi.org/10.3390/diseases12060110 - 22 May 2024
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Early-onset Alzheimer’s disease (EOAD), defined as Alzheimer’s disease onset before 65 years of age, has been significantly less studied than the “classic” late-onset form (LOAD), although EOAD often presents with a more aggressive disease course, caused by variants in the APP, PSEN1,
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Early-onset Alzheimer’s disease (EOAD), defined as Alzheimer’s disease onset before 65 years of age, has been significantly less studied than the “classic” late-onset form (LOAD), although EOAD often presents with a more aggressive disease course, caused by variants in the APP, PSEN1, and PSEN2 genes. EOAD has significant differences from LOAD, including encompassing diverse phenotypic manifestations, increased genetic predisposition, and variations in neuropathological burden and distribution. Phenotypically, EOAD can be manifested with non-amnestic variants, sparing the hippocampi with increased tau burden. The aim of this article is to review the different genetic bases, risk factors, pathological mechanisms, and diagnostic approaches between EOAD and LOAD and to suggest steps to further our understanding. The comprehension of the monogenic form of the disease can provide valuable insights that may serve as a roadmap for understanding the common form of the disease.
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Open AccessArticle
Comparing Relationship Satisfaction and Body-Image-Related Quality of Life in Pregnant Women with Planned and Unplanned Pregnancies
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Razvan-Ionut Daniluc, Marius Craina, Barkha Rani Thakur, Mihaela Prodan, Melania Lavinia Bratu, Ana-Maria Cristina Daescu, George Puenea, Bogdan Niculescu and Rodica Anamaria Negrean
Diseases 2024, 12(6), 109; https://doi.org/10.3390/diseases12060109 - 22 May 2024
Abstract
This comparative cross-sectional study conducted at the “Pius Brinzeu” healthcare center in Timisoara explored the differential impacts of pregnancy planning status on sexual function, body image, and relationship satisfaction among pregnant women. Employing the Female Sexual Function Index (FSFI), Body Esteem Scale for
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This comparative cross-sectional study conducted at the “Pius Brinzeu” healthcare center in Timisoara explored the differential impacts of pregnancy planning status on sexual function, body image, and relationship satisfaction among pregnant women. Employing the Female Sexual Function Index (FSFI), Body Esteem Scale for Adolescents and Adults (BESAQ), and the Beck Depression Inventory (BDI-II), the study analyzed responses from 107 participants divided into groups of planned (n = 59, mean age 28.5 ± 5.2) and unplanned (n = 48, mean age 27.3 ± 4.8) pregnancies. In the first trimester, unplanned pregnancies reported higher median scores in desire (4.7 vs. 3.6, p = 0.005), arousal (4.5 vs. 3.8, p = 0.001), and lubrication (4.6 vs. 3.7, p = 0.015) compared to planned pregnancies. Satisfaction scores also favored unplanned pregnancies in the first trimester (4.8 vs. 3.9, p = 0.009). Similar trends were observed in subsequent trimesters, with unplanned pregnancies consistently reporting higher FSFI scores, indicating a robust sexual function. Risk factors significantly associated with sexual dysfunction were a higher BMI in the first trimester (beta coefficient: −0.124, p = 0.019), unmarried civil status (beta coefficient: −0.323, p = 0.045), history of previous abortion (beta coefficient: −0.451, p = 0.012), irregular menstrual cycles (beta coefficient: −0.384, p = 0.026), and rural living area (beta coefficient: −0.278, p = 0.034). Notably, unplanned pregnancy itself was not a significant risk factor for sexual dysfunction (beta coefficient: −0.054, p = 0.095). Regarding relationship dynamics, planned pregnancies exhibited significantly higher satisfaction with partner support (4.1 ± 0.9 vs. 3.7 ± 1.1, p = 0.041) and communication within the couple (4.0 ± 1.0 vs. 3.5 ± 1.2, p = 0.020), whereas unplanned pregnancies reported higher satisfaction with emotional closeness (4.3 ± 0.7 vs. 3.8 ± 1.0, p = 0.004). Concerns about managing professional activities and household chores were significantly more prevalent in the unplanned pregnancy group (62.50% vs. 33.90%, p = 0.014). Unplanned pregnancies demonstrated better initial sexual function but faced greater challenges in relationship satisfaction and managing pregnancy demands. Identifying and addressing the risk factors associated with sexual dysfunction can provide targeted interventions to improve the well-being of pregnant women, regardless of pregnancy planning status.
Full article
(This article belongs to the Special Issue Multidisciplinarity and Interdisciplinary Basics in Mental Health)
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Open AccessArticle
Eating Attitudes, Stress, Anxiety, and Depression in Dietetic Students and Association with Body Mass Index and Body Fat Percent: A Cross-Sectional Study
by
Olga Magni, Paraskevi Detopoulou, Evangelia Fappa, Anastasia Perrea, Despoina Levidi, Vasilios Dedes, Milia Tzoutzou, Aristea Gioxari and Georgios Panoutsopoulos
Diseases 2024, 12(5), 108; https://doi.org/10.3390/diseases12050108 - 20 May 2024
Abstract
University students face challenges impacting psychology and dietary choices. The present work examined the association between eating attitudes, stress, anxiety, and depression to body mass index (BMI) and body fat percentage in Dietetics students. Respondents completed the Eating Attitudes Test-26 (EAT-26), the Depression
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University students face challenges impacting psychology and dietary choices. The present work examined the association between eating attitudes, stress, anxiety, and depression to body mass index (BMI) and body fat percentage in Dietetics students. Respondents completed the Eating Attitudes Test-26 (EAT-26), the Depression Anxiety Stress Scales (DASS), a validated Food Frequency Questionnaire, and the Hellenic Physical Activity Questionnaire (HPAQ). Anthropometry and a bioimpedance analysis were performed. The EAT-26 score was 11 (8–16) and the DASS score was 20 (11–36) (medians and interquartile ranges). Disordered eating was detected in 20% of men and 15% of women. Depressive symptomatology was detected in 30% of males and 23% of females, anxiety in 35% of males and 40% of females, and stress in 29% of males and 35% of females. EAT-26 and DASS scores were highly correlated (r = 0. 0.221, p = 0.001). The EAT-26 oral control subscale (B = 0.430, SE = 0.184, p = 0.026) was positively correlated with BMI in men in the models, adjusted for age, physical activity, and Mediterranean Diet Score, while no association was documented for % body fat. The DASS depression score was not related to BMI in multi-adjusted models. In conclusion, disordered eating, depression, stress, and anxiety are present in this sample of university students. The relationship between disordered eating and BMI needs consideration in programs targeting overweight or underweight in Dietetics students.
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Open AccessArticle
Clinical Outcomes among Hospitalized COVID-19 Patients Who Received Baricitinib or Tocilizumab in Addition to Standard of Care
by
Cucnhat P. Walker, Natalie P. Hurlock and Subrata Deb
Diseases 2024, 12(5), 107; https://doi.org/10.3390/diseases12050107 - 20 May 2024
Abstract
COVID-19 infection is caused by the novel severe acute respiratory syndrome coronavirus 2 (SAR-CoV-2). This novel virus has transformed into different resistant variants (e.g., omicron; delta; alpha; epsilon) since its first emergence in 2019. The National Institutes of Health and Infectious Diseases Society
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COVID-19 infection is caused by the novel severe acute respiratory syndrome coronavirus 2 (SAR-CoV-2). This novel virus has transformed into different resistant variants (e.g., omicron; delta; alpha; epsilon) since its first emergence in 2019. The National Institutes of Health and Infectious Diseases Society of America guidelines currently recommend adding either baricitinib or tocilizumab to the standard of care for severe COVID-19 treatment. An outcome comparison between baricitinib and tocilizumab is needed to determine which agent is more appropriate and safer in clinical practice when deciding treatment. We aimed to compare mortality and clinical outcomes between tocilizumab and baricitinib in the management of severe COVID-19 infection. A total of 5638 adult patients from 16 acute care hospitals in a large healthcare system in Texas were included in this multicentered retrospective cohort study. The median age of the patients was 56 years and 46.67% of them were female. Severe COVID-19 patients were treated with standard of care and either tocilizumab or baricitinib. The primary outcome of hospital admission mortality rates was found to be higher with tocilizumab (odd ratio (OR) of 1.56; p = 0.001; 95% CI 1.19 to 2.008) compared to that with baricitinib (OR 0.65; p = 0.001; 95% CI 0.50 to 0.84). For one of the secondary outcomes, patients who received tocilizumab were 3.75 times more likely to be admitted to the ICU than those receiving baricitinib (p = 0.001; 95% CI 2.89 to 4.85). Among the 1199 COVID-19 patients who were admitted to the ICU, the ICU length of stay was shorter among patients receiving baricitinib with a mean difference of 4.42 days and a median difference of 2.54 days, compared to those receiving tocilizumab (p < 0.0001; 95% CI −5.97 to −2.62) as another secondary outcome. Our large retrospective observational study showed that baricitinib reduced mortality; the likelihood of ICU admission; and the ICU length of stay compared to tocilizumab in patients with severe COVID-19 infection.
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Open AccessArticle
Frequency of the Main Human Leukocyte Antigen A, B, DR, and DQ Loci Known to Be Associated with the Clearance or Persistence of Hepatitis C Virus Infection in a Healthy Population from the Southern Region of Morocco: A Preliminary Study
by
Safa Machraoui, Khaoula Errafii, Ider Oujamaa, Moulay Yassine Belghali, Abdelmalek Hakmaoui, Saad Lamjadli, Fatima Ezzohra Eddehbi, Ikram Brahim, Yasmine Haida and Brahim Admou
Diseases 2024, 12(5), 106; https://doi.org/10.3390/diseases12050106 - 16 May 2024
Abstract
Hepatitis C Virus (HCV) infection represents a significant global health challenge, with its natural course largely influenced by the host’s immune response. Human Leukocyte Antigen (HLA) molecules, particularly HLA class I and II, play a crucial role in the adaptive immune response against
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Hepatitis C Virus (HCV) infection represents a significant global health challenge, with its natural course largely influenced by the host’s immune response. Human Leukocyte Antigen (HLA) molecules, particularly HLA class I and II, play a crucial role in the adaptive immune response against HCV. The polymorphism of HLA molecules contributes to the variability in immune response, affecting the outcomes of HCV infection. This study aims to investigate the frequency of HLA A, B, DR, and DQ alleles known to be associated with HCV clearance or persistence in a healthy Moroccan population. Conducted at the University Hospital Center Mohammed VI, Marrakech, this study spanned from 2015 to 2022 and included 703 healthy Moroccan individuals. HLA class I and II typing was performed using complement-dependent cytotoxicity and polymerase chain reaction-based methodologies. The results revealed the distinct patterns of HLA-A, B, DRB1, and DQB1 alleles in the Moroccan population. Notably, alleles linked to favorable HCV outcomes, such as HLA-DQB1*0301, DQB1*0501, and DRB1*1101, were more prevalent. Conversely, alleles associated with increased HCV susceptibility and persistence, such as HLA-DQB1*02 and DRB1*03, were also prominent. Gender-specific variations in allele frequencies were observed, providing insights into genetic influences on HCV infection outcomes. The findings align with global trends in HLA allele associations with HCV infection outcomes. The study emphasizes the role of host genetics in HCV infection, highlighting the need for further research in the Moroccan community, including HCV-infected individuals. The prevalence of certain HLA alleles, both protective and susceptibility-linked, underscores the potential for a national HLA data bank in Morocco.
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(This article belongs to the Special Issue Infectious Disease Epidemiology 2024)
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Open AccessCase Report
Electrical Storm Induced by Cardiac Resynchronization: Efficacy of the Multipoint Pacing Stimulation
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Anna Gonella, Carmelo Casile, Endrj Menardi and Mauro Feola
Diseases 2024, 12(5), 105; https://doi.org/10.3390/diseases12050105 - 15 May 2024
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Although cardiac resynchronization therapy (CRT) reduces morbidity and mortality and reverses left ventricular (LV) remodeling in heart failure patients with LV electrical dyssynchrony, induced proarrhythmia has been reported. The mechanism of CRT-induced proarrhythmia remains under debate. In this case report, a description of
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Although cardiac resynchronization therapy (CRT) reduces morbidity and mortality and reverses left ventricular (LV) remodeling in heart failure patients with LV electrical dyssynchrony, induced proarrhythmia has been reported. The mechanism of CRT-induced proarrhythmia remains under debate. In this case report, a description of how LV pacing induced polymorphic ventricular tachycardia immediately after the initiation of CRT has been reported. By changing the pacing configuration using a multipoint pacing stimulation, we can assume that induced ventricular tachycardia is related to the reentry mechanism facilitated by the unidirectional block. As a result, a multipoint pacing (MPP) configuration near the scar area can avoid the onset of a unidirectional block with the establishment of the reentry phenomenon, thus avoiding induced VTs.
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Open AccessReview
Dystrophic Epidermolysis Bullosa (DEB): How Can Pregnancy Alter the Course of This Rare Disease? An Updated Literature Review on Obstetrical Management with an Additional Italian Experience
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Antonella Vimercati, Gerardo Cazzato, Lucia Lospalluti, Stefania Foligno, Cristina Taliento, Katarzyna Beata Trojanowska, Ettore Cicinelli, Domenico Bonamonte, Dario Caliandro, Amerigo Vitagliano and Pierpaolo Nicolì
Diseases 2024, 12(5), 104; https://doi.org/10.3390/diseases12050104 - 15 May 2024
Abstract
Epidermolysis Bullosa (EB) is an extremely rare and disabling inherited genetic skin disease with a predisposition to develop bullous lesions on the skin and inner mucous membranes, occurring after mild friction or trauma, or even spontaneously. Within the spectrum of EB forms, dystrophic
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Epidermolysis Bullosa (EB) is an extremely rare and disabling inherited genetic skin disease with a predisposition to develop bullous lesions on the skin and inner mucous membranes, occurring after mild friction or trauma, or even spontaneously. Within the spectrum of EB forms, dystrophic EB (DEB) represents the most intriguing and challenging in terms of clinical management, especially with regard to pregnancy, due to the highly disabling and life-threatening phenotype. Disappointingly, in the literature little focus has been directed towards pregnancy and childbirth in DEB patients, resulting in a lack of sound evidence and guidance for patients themselves and clinicians. The current study aims to contribute to the DEB literature with an updated summary of the existing evidence regarding the obstetrical and anesthesiological management of this rare disease. Furthermore, this literature review sought to answer the question of whether, and if so, in which way, the pregnancy condition may alter the course of the underlying dermatologic skin disease. Having all this information is indispensable when counseling a patient with DEB who desires a child or is expecting one. Finally, we reported own experience with a pregnant woman with a recessive DEB whom we recently managed, with a favorable outcome.
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(This article belongs to the Section Rare Syndrome)
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Open AccessReview
Bile Acids and Bilirubin Role in Oxidative Stress and Inflammation in Cardiovascular Diseases
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Angela Punzo, Alessia Silla, Federica Fogacci, Matteo Perillo, Arrigo F. G. Cicero and Cristiana Caliceti
Diseases 2024, 12(5), 103; https://doi.org/10.3390/diseases12050103 - 14 May 2024
Abstract
Bile acids (BAs) and bilirubin, primarily known for their role in lipid metabolism and as heme catabolite, respectively, have been found to have diverse effects on various physiological processes, including oxidative stress and inflammation. Indeed, accumulating evidence showed that the interplay between BAs
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Bile acids (BAs) and bilirubin, primarily known for their role in lipid metabolism and as heme catabolite, respectively, have been found to have diverse effects on various physiological processes, including oxidative stress and inflammation. Indeed, accumulating evidence showed that the interplay between BAs and bilirubin in these processes involves intricate regulatory mechanisms mediated by specific receptors and signaling pathways under certain conditions and in specific contexts. Oxidative stress plays a significant role in the development and progression of cardiovascular diseases (CVDs) due to its role in inflammation, endothelial dysfunction, hypertension, and other risk factors. In the cardiovascular (CV) system, recent studies have suggested that BAs and bilirubin have some opposite effects related to oxidative and inflammatory mechanisms, but this area of research is still under investigation. This review aims to introduce BAs and bilirubin from a biochemical and physiological point of view, emphasizing their potential protective or detrimental effects on CVDs. Moreover, clinical studies that have assessed the association between BAs/bilirubin and CVD were examined in depth to better interpret the possible link between them.
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(This article belongs to the Section Cardiology)
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Open AccessArticle
The Effect of Fabry Disease Therapy on Bone Mineral Density
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Tess Aitken, Mark K. Tiong, Andrew S. Talbot, Irene Ruderman and Kathleen M. Nicholls
Diseases 2024, 12(5), 102; https://doi.org/10.3390/diseases12050102 - 13 May 2024
Abstract
Fabry disease (FD) is an X-linked lysosomal storage disorder, characterised by the cellular accumulation of globotriaosylceramide due to impaired alpha-galactosidase A enzyme activity. FD may manifest with multisystem pathology, including reduced bone mineral density (BMD). Registry data suggest that the introduction of Fabry-specific
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Fabry disease (FD) is an X-linked lysosomal storage disorder, characterised by the cellular accumulation of globotriaosylceramide due to impaired alpha-galactosidase A enzyme activity. FD may manifest with multisystem pathology, including reduced bone mineral density (BMD). Registry data suggest that the introduction of Fabry-specific therapies (enzyme replacement therapy or chaperone therapy) has led to significant improvements in overall patient outcomes; however, there are limited data on the impact on bone density. The aim of this study was to describe the effect of Fabry-specific therapies on longitudinal changes in bone mineral density (BMD) in FD. We performed a retrospective observational study analysing bone densitometry (DXA) in patients with genetically confirmed FD. Patients were grouped based on the use of Fabry-specific therapies. The between-group longitudinal change in BMD Z-score was analysed using linear mixed effects models. A total of 88 FD patients were analysed (50 untreated; 38 treated). The mean age at first DXA was 38.5 years in the untreated group (84% female) and 43.7 years in the treated group (34% female). There was no significant longitudinal between-group difference in the BMD Z-score at the lumbar spine. However, the Z-score per year at the total hip (β = −0.105, p < 0.001) and femoral neck (β = −0.081, p = 0.001) was significantly lower over time in the treated than the untreated group. This may reflect those receiving therapy having a more severe underlying disease. Nevertheless, this suggests that Fabry-specific therapies do not reverse all disease mechanisms and that the additional management of BMD may be required in this patient population.
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(This article belongs to the Collection Lysosomal Storage Diseases)
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Open AccessReview
Molecular Diagnostics of Cryptococcus spp. and Immunomics of Cryptococcosis-Associated Immune Reconstitution Inflammatory Syndrome
by
Irina Vlasova-St. Louis and Hesham Mohei
Diseases 2024, 12(5), 101; https://doi.org/10.3390/diseases12050101 - 13 May 2024
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Cryptococcal infection poses a significant global public health challenge, particularly in regions near the equator. In this review, we offer a succinct exploration of the Cryptococcus spp. genome and various molecular typing methods to assess the burden and genetic diversity of cryptococcal pathogens
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Cryptococcal infection poses a significant global public health challenge, particularly in regions near the equator. In this review, we offer a succinct exploration of the Cryptococcus spp. genome and various molecular typing methods to assess the burden and genetic diversity of cryptococcal pathogens in the environment and clinical isolates. We delve into a detailed discussion on the molecular pathogenesis and diagnosis of immune reconstitution inflammatory syndrome (IRIS) associated with cryptococcosis, with a specific emphasis on cryptococcal meningitis IRIS (CM-IRIS). Our examination includes the recent literature on CM-IRIS, covering host cellulomics, proteomics, transcriptomics, and genomics.
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Open AccessReview
John Cunningham Virus and Progressive Multifocal Leukoencephalopathy: A Falsely Played Diagnosis
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Dimitra S. Mouliou
Diseases 2024, 12(5), 100; https://doi.org/10.3390/diseases12050100 - 13 May 2024
Abstract
Progressive Multifocal Leukoencephalopathy (PML) is a possibly fatal demyelinating disease and John Cunningham Polyomavirus (JCPyV) is believed to cause this condition. The so-called JCPyV was initially reported in lymphoma and Human Immunodeficiency Virus (HIV) cases, whereas nowadays, its incidence is increasing in Multiple
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Progressive Multifocal Leukoencephalopathy (PML) is a possibly fatal demyelinating disease and John Cunningham Polyomavirus (JCPyV) is believed to cause this condition. The so-called JCPyV was initially reported in lymphoma and Human Immunodeficiency Virus (HIV) cases, whereas nowadays, its incidence is increasing in Multiple Sclerosis (MS) cases treated with natalizumab (Tysabri). However, there are conflicting literature data on its pathology and diagnosis, whereas some misdiagnosed reports exist, giving rise to further questions towards the topic. In reality, the so-called PML and the supposed JCPyV are not what they seem to be. In addition, novel and more frequent PML-like conditions may be reported, especially after the Coronavirus Disease 2019 (COVID-19) pandemic.
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Open AccessArticle
Evaluation of the Safety and Efficacy of Repeated Mesenchymal Stem Cell Transplantations in ALS Patients by Investigating Patients’ Specific Immunological and Biochemical Biomarkers
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Zahraa Alkhazaali-Ali, Sajad Sahab-Negah, Amir Reza Boroumand, Najmeh Kaffash Farkhad, Mohammad Ali Khodadoust and Jalil Tavakol-Afshari
Diseases 2024, 12(5), 99; https://doi.org/10.3390/diseases12050099 - 12 May 2024
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Background: Amyotrophic lateral sclerosis (ALS) is an incurable disease. There are vigorous attempts to develop treatments to reduce the effects of this disease, and among these treatments is the transplantation of stem cells. This study aimed to retrospectively evaluate a mesenchymal stem cell
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Background: Amyotrophic lateral sclerosis (ALS) is an incurable disease. There are vigorous attempts to develop treatments to reduce the effects of this disease, and among these treatments is the transplantation of stem cells. This study aimed to retrospectively evaluate a mesenchymal stem cell (MSC) therapy cohort as a promising novel treatment modality by estimating some additional new parameters, such as immunological and biochemical factors. Methods: This study was designed as an open-label, one-arm cohort retrospective study to evaluate potential diagnostic biomarkers of repeated infusions of autologous-bone marrow-derived mesenchymal stem cells (BM-MSCs) in 15 confirmed patients with ALS, administered at a dose of 1 × cells/kg BW with a one-month interval, in equal amounts in both an intravenous (IV) and intrathecal (IT) capacity simultaneously, via various biochemical (iron (Fe), ferritin, total-iron-binding capacity (TIBC), transferrin, and creatine kinase (CK)) and immunological parameters (tumor necrosis factor-alpha (TNF-α), neurofilament light chain (NFL), and glial-cell-derived neurotrophic factor (GDNF) levels, evaluated during the three-month follow-up period in serum and cerebrospinal fluid (CSF). Results: Our study indicated that, in the case of immunological biomarkers, TNF-α levels in the CSF showed a significant decrease at month three after transplantation compared with levels at month zero, and the p-value was p < 0.01. No statistically significant changes were observed for other immunological as well as biochemical parameters and a p-value of p > 0.05. Conclusions: These results can indicate the potential benefit of stem cell transfusion in patients with ALS and suggest some diagnostic biomarkers. Several studies are required to approve these results.
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A Single-Center Experience in Combined Oncological–Surgical Treatment for Resectable Locally Advanced Non-Small Cell Lung Cancer (NSCLC)
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Dan Levy Faber, Abed Agbarya, Ben Caspy, Moshe Lapidot, Shoshana Keren Rosenberg, Sonia Schneer, Erez Sharoni and Ronen Galili
Diseases 2024, 12(5), 98; https://doi.org/10.3390/diseases12050098 - 12 May 2024
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Non-small cell lung cancer (NSCLC) is the most common pulmonary malignancy, frequently diagnosed at an advanced stage (III/IV). Patients in the Locally Advanced Stage Subgroup (IIIA) are relatively few, yet compose heterogenic phenotypes, posing a diagnostic and treating challenge, leading to a lack
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Non-small cell lung cancer (NSCLC) is the most common pulmonary malignancy, frequently diagnosed at an advanced stage (III/IV). Patients in the Locally Advanced Stage Subgroup (IIIA) are relatively few, yet compose heterogenic phenotypes, posing a diagnostic and treating challenge, leading to a lack of clinical guidelines regarding the optimal standard of care. Several approaches exist, with a general agreement that a combined oncological and surgical modality approach is required. In this current retrospective descriptive study, patients with operable stage IIIA NSCLC who underwent surgery between 2013 and 2020 were evaluated on several aspects, including the initial diagnosis, neoadjuvant regimens, outcomes of surgical intervention, and overall survival at 2 years and 5 years following treatment. A total of 35 patients had neoadjuvant oncological treatment (mostly chemoradiation therapy) prior to surgery, out of which 28 patients were diagnosed with stage IIIA NSCLC. In post-operative assessment of pathological staging, downstaging was reported in 19 patients, of which 25% of cases were defined as a complete pathological response. The 2-year overall survival rate was 65% and the 5-year overall survival rate was 62%. The main pattern of disease recurrence was distant metastasis.
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Association of Calf Circumference with Clinical and Biochemical Markers in Older Adults with COVID-19 Admitted at Intensive Care Unit: A Retrospective Cross-Sectional Study
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Vanessa A. Araújo, Jefferson S. Souza, Bruna M. Giglio, Patrícia C. B. Lobo and Gustavo D. Pimentel
Diseases 2024, 12(5), 97; https://doi.org/10.3390/diseases12050097 - 8 May 2024
Abstract
Background: COVID-19 is an infectious disease characterized by a severe catabolic and inflammatory state, leading to loss of muscle mass. The assessment of muscle mass can be useful to identify nutritional risk and assist in early management, especially in older adults who have
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Background: COVID-19 is an infectious disease characterized by a severe catabolic and inflammatory state, leading to loss of muscle mass. The assessment of muscle mass can be useful to identify nutritional risk and assist in early management, especially in older adults who have high nutritional risks. The aim of this study was to evaluate the association of calf circumference (CC) with clinical and biochemical markers and mortality in older adults with COVID-19 admitted to the intensive care unit (ICU). Methods: A retrospective cross-sectional study was conducted in a public hospital. CC was adjusted for body mass index (BMI), reducing 3, 7, or 12 cm for a BMI of 25–29.9, 30–39.9, and ≥40 kg/m2, respectively, and classified as reduced when <33 cm for women and <34 cm for men. Pearson’s correlation between BMI and CC was performed to assess the association between variables. Regression analysis was adjusted for sex, age, and BMI variables. Cox regression was used to assess survival related to CC. Results: A total of 208 older adults diagnosed with COVID-19 admitted to ICU were included, of which 84% (n = 176) were classified as having reduced CC. These patients were older, with lower BMI, higher nutritional risk, malnourished, and higher concentration of urea and urea–creatinine ratio (UCR) compared with the group with normal CC. There was an association between edematous patients at nutritional risk and malnourished with reduced CC in the Cox regression, either adjusted or not for confounding. Conclusions: CC was not associated with severity, biochemical markers, or mortality in older adults with COVID-19 admitted to the ICU, but it was associated with moderately malnourished patients assessed by subjective global assessment (SGA).
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(This article belongs to the Section Infectious Disease)
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Factors Affecting Survival Outcomes in Neuroendocrine Tumor of the Appendix over the Past Two Decades
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Vignesh Krishnan Nagesh, Izage Kianifar Aguilar, Daniel Elias, Charlene Mansour, Hadrian Hoang-Vu Tran, Ruchi Bhuju, Tanni Sethi, Paranjyothy Rao Pirangi Sanjeeva, Marco Gonzalez Rivas, Emelyn Martinez, Auda Auda, Nazir Ahmed, Shawn Philip, Simcha Weissman, John Sotiriadis and Ayrton Bangolo
Diseases 2024, 12(5), 96; https://doi.org/10.3390/diseases12050096 - 8 May 2024
Abstract
Background: Appendiceal neuroendocrine tumors (NETs) rank as the third most frequent neoplasm affecting the appendix, originating from enterochromaffin cells. This study aims to evaluate the influence of various prognostic factors on the mortality rates of patients diagnosed with NETs of the appendix. Methods:
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Background: Appendiceal neuroendocrine tumors (NETs) rank as the third most frequent neoplasm affecting the appendix, originating from enterochromaffin cells. This study aims to evaluate the influence of various prognostic factors on the mortality rates of patients diagnosed with NETs of the appendix. Methods: Conducted retrospectively, the study involved 3346 patients, utilizing data sourced from the Surveillance, Epidemiology, and End Results (SEER) database. Our analysis centered on investigating demographic characteristics, clinical features, overall mortality (OM), and cancer-specific mortality (CSM) among the cohort. Variables showing a p-value < 0.1 in the univariate Cox regression were incorporated into the multivariate Cox regression analysis. A Hazard Ratio (HR) > 1 indicated an unfavorable prognosis. Results: In the multivariate analysis, higher OM and CSM were observed in males, older age groups, tumors with distant metastasis, poorly differentiated tumors, and those who underwent chemotherapy. Non-Hispanic Black individuals showed elevated mortality rates. Conclusion: Delayed diagnosis may contribute to the increased mortality in this community. Improved access to healthcare and treatment is crucial for addressing these disparities. Larger prospective studies are needed to pinpoint the underlying causes of elevated mortality in non-Hispanic Black populations, and randomized controlled trials (RCTs) are warranted to evaluate therapies for advanced-stage appendix NETs.
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(This article belongs to the Section Gastroenterology)
Open AccessReview
Long COVID in Children, Adults, and Vulnerable Populations: A Comprehensive Overview for an Integrated Approach
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Valeria Calcaterra, Sara Zanelli, Andrea Foppiani, Elvira Verduci, Beatrice Benatti, Roberto Bollina, Francesco Bombaci, Antonio Brucato, Selene Cammarata, Elisa Calabrò, Giovanna Cirnigliaro, Silvia Della Torre, Bernardo Dell’osso, Chiara Moltrasio, Angelo Valerio Marzano, Chiara Nostro, Maurizio Romagnuolo, Lucia Trotta, Valeria Savasi, Valeria Smiroldo and Gianvincenzo Zuccottiadd
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Diseases 2024, 12(5), 95; https://doi.org/10.3390/diseases12050095 - 6 May 2024
Abstract
Long COVID affects both children and adults, including subjects who experienced severe, mild, or even asymptomatic SARS-CoV-2 infection. We have provided a comprehensive overview of the incidence, clinical characteristics, risk factors, and outcomes of persistent COVID-19 symptoms in both children and adults, encompassing
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Long COVID affects both children and adults, including subjects who experienced severe, mild, or even asymptomatic SARS-CoV-2 infection. We have provided a comprehensive overview of the incidence, clinical characteristics, risk factors, and outcomes of persistent COVID-19 symptoms in both children and adults, encompassing vulnerable populations, such as pregnant women and oncological patients. Our objective is to emphasize the critical significance of adopting an integrated approach for the early detection and appropriate management of long COVID. The incidence and severity of long COVID symptoms can have a significant impact on the quality of life of patients and the course of disease in the case of pre-existing pathologies. Particularly, in fragile and vulnerable patients, the presence of PASC is related to significantly worse survival, independent from pre-existing vulnerabilities and treatment. It is important try to achieve an early recognition and management. Various mechanisms are implicated, resulting in a wide range of clinical presentations. Understanding the specific mechanisms and risk factors involved in long COVID is crucial for tailoring effective interventions and support strategies. Management approaches involve comprehensive biopsychosocial assessments and treatment of symptoms and comorbidities, such as autonomic dysfunction, as well as multidisciplinary rehabilitation. The overall course of long COVID is one of gradual improvement, with recovery observed in the majority, though not all, of patients. As the research on long-COVID continues to evolve, ongoing studies are likely to shed more light on the intricate relationship between chronic diseases, such as oncological status, cardiovascular diseases, psychiatric disorders, and the persistent effects of SARS-CoV-2 infection. This information could guide healthcare providers, researchers, and policymakers in developing targeted interventions.
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(This article belongs to the Special Issue COVID-19 and Global Chronic Disease 2024: The Post-pandemic Era)
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Open AccessCase Report
Lichen Amyloidosis in an Atopic Patient Treated with Dupilumab: A New Therapeutic Option
by
Benedetta Tirone, Gerardo Cazzato, Francesca Ambrogio, Caterina Foti and Marco Bellino
Diseases 2024, 12(5), 94; https://doi.org/10.3390/diseases12050094 - 6 May 2024
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Lichen amyloidosis (LA) is a type of cutaneous amyloidosis characterized by brownish hyperkeratotic and itchy papules on the lower leg, back, forearm, or thigh. It is associated with itching and atopic dermatitis (AD) according to an etiopathogenetic mechanism that has not yet been
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Lichen amyloidosis (LA) is a type of cutaneous amyloidosis characterized by brownish hyperkeratotic and itchy papules on the lower leg, back, forearm, or thigh. It is associated with itching and atopic dermatitis (AD) according to an etiopathogenetic mechanism that has not yet been fully elucidated. Currently, the available therapies for this condition include oral antihistamines, laser, cyclosporine, topical corticosteroids, and phototherapy, but, in light of the overlap with AD, Dupilumab may also be indicated. We report the case of a female, 52 years old, who had been suffering from AD and LA for about 27 years. She had lesions attributable to both diseases on the trunk and lower limbs associated with severe itching and had proved resistant to cyclosporine therapy. It was decided to opt for Dupilumab with the induction of 2 fl of 300 mg and maintenance with 1 fl every other week. The therapy proved to be effective, returning a total resolution of both diseases one year after the beginning of the treatment. Dupilumab demonstrated efficacy and safety in the LA related to AD and led to clinical and quality of life improvements in this patient. Therefore, Dupilumab should be considered when treating LA. Further studies should be conducted focusing on the efficacy of the drug on LA (whether or not related to AD), changes in the skin lesions after discontinuation, and the safety of long-term application.
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