Diseases最新文献_第5页

Early- and Late-Onset Alzheimer’s Disease: Two Sides of the Same Coin? 早发和晚发阿尔茨海默病：一枚硬币的两面？

Diseases Pub Date : 2024-05-22 DOI: 10.3390/diseases12060110

César A. Valdez-Gaxiola, Frida Rosales-Leycegui, Abigail Gaxiola-Rubio, J. Moreno-Ortiz, Luis E. Figuera

引用次数: 0

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 摩洛哥南部地区健康人群中已知与丙型肝炎病毒感染清除或持续相关的主要人类白细胞抗原 A、B、DR 和 DQ 基因位点的频率：初步研究

Diseases Pub Date : 2024-05-16 DOI: 10.3390/diseases12050106

Safa Machraoui, Khaoula Errafii, I. Oujamaa, Moulay Yassine Belghali, Abdelmalek Hakmaoui, Saad Lamjadli, Fatima-ezzohra Eddehbi, Ikram Brahim, Yasmine Haida, Brahim Admou

{"title":"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","authors":"Safa Machraoui, Khaoula Errafii, I. Oujamaa, Moulay Yassine Belghali, Abdelmalek Hakmaoui, Saad Lamjadli, Fatima-ezzohra Eddehbi, Ikram Brahim, Yasmine Haida, Brahim Admou","doi":"10.3390/diseases12050106","DOIUrl":"https://doi.org/10.3390/diseases12050106","url":null,"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 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.","PeriodicalId":11200,"journal":{"name":"Diseases","volume":"8 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140967526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

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 萎缩性表皮松解症（DEB）：妊娠如何改变这种罕见疾病的病程？关于产科管理的最新文献综述及意大利的最新经验

Diseases Pub Date : 2024-05-15 DOI: 10.3390/diseases12050104

Antonella Vimercati, Gerardo Cazzato, Lucia Lospalluti, Stefania Foligno, Cristina Taliento, Katarzyna Beata Trojanowska, Ettore Cicinelli, Domenico Bonamonte, Dario Caliandro, Amerigo Vitagliano, Pierpaolo Nicolì

{"title":"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","authors":"Antonella Vimercati, Gerardo Cazzato, Lucia Lospalluti, Stefania Foligno, Cristina Taliento, Katarzyna Beata Trojanowska, Ettore Cicinelli, Domenico Bonamonte, Dario Caliandro, Amerigo Vitagliano, Pierpaolo Nicolì","doi":"10.3390/diseases12050104","DOIUrl":"https://doi.org/10.3390/diseases12050104","url":null,"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 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.","PeriodicalId":11200,"journal":{"name":"Diseases","volume":"60 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140972489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Electrical Storm Induced by Cardiac Resynchronization: Efficacy of the Multipoint Pacing Stimulation 心脏再同步化诱发的电风暴：多点起搏刺激的疗效

Diseases Pub Date : 2024-05-15 DOI: 10.3390/diseases12050105

Anna Gonella, Carmelo Casile, Endrj Menardi, Mauro Feola

引用次数: 0

Bile Acids and Bilirubin Role in Oxidative Stress and Inflammation in Cardiovascular Diseases 胆汁酸和胆红素在心血管疾病的氧化应激和炎症中的作用

Diseases Pub Date : 2024-05-14 DOI: 10.3390/diseases12050103

A. Punzo, Alessia Silla, F. Fogacci, Matteo Perillo, A. Cicero, C. Caliceti

{"title":"Bile Acids and Bilirubin Role in Oxidative Stress and Inflammation in Cardiovascular Diseases","authors":"A. Punzo, Alessia Silla, F. Fogacci, Matteo Perillo, A. Cicero, C. Caliceti","doi":"10.3390/diseases12050103","DOIUrl":"https://doi.org/10.3390/diseases12050103","url":null,"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 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.","PeriodicalId":11200,"journal":{"name":"Diseases","volume":"33 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140980389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Effect of Fabry Disease Therapy on Bone Mineral Density 法布里病疗法对骨矿密度的影响

Diseases Pub Date : 2024-05-13 DOI: 10.3390/diseases12050102

Tess Aitken, M. K. Tiong, Andrew S. Talbot, I. Ruderman, Kathy Nicholls

{"title":"The Effect of Fabry Disease Therapy on Bone Mineral Density","authors":"Tess Aitken, M. K. Tiong, Andrew S. Talbot, I. Ruderman, Kathy Nicholls","doi":"10.3390/diseases12050102","DOIUrl":"https://doi.org/10.3390/diseases12050102","url":null,"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 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.","PeriodicalId":11200,"journal":{"name":"Diseases","volume":"63 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140983379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Molecular Diagnostics of Cryptococcus spp. and Immunomics of Cryptococcosis-Associated Immune Reconstitution Inflammatory Syndrome 隐球菌属的分子诊断和隐球菌病相关免疫重建炎症综合征的免疫组学研究

Diseases Pub Date : 2024-05-13 DOI: 10.3390/diseases12050101

Irina Vlasova-St. Louis, Hesham Mohei

引用次数: 0

John Cunningham Virus and Progressive Multifocal Leukoencephalopathy: A Falsely Played Diagnosis 约翰-坎宁安病毒与进行性多灶性白质脑病：误诊

Diseases Pub Date : 2024-05-13 DOI: 10.3390/diseases12050100

Dimitra S. Mouliou

引用次数: 0

Evaluation of the Safety and Efficacy of Repeated Mesenchymal Stem Cell Transplantations in ALS Patients by Investigating Patients’ Specific Immunological and Biochemical Biomarkers 通过研究患者的特异性免疫和生化生物标志物，评估间充质干细胞在渐冻症患者中重复移植的安全性和有效性

Diseases Pub Date : 2024-05-12 DOI: 10.3390/diseases12050099

Zahraa Alkhazaali-Ali, Sajad Sahab-Negah, Amir Reza Boroumand, Najmeh Kaffash Farkhad, Mohammad Ali Khodadoust, Jalil Tavakol-Afshari

{"title":"Evaluation of the Safety and Efficacy of Repeated Mesenchymal Stem Cell Transplantations in ALS Patients by Investigating Patients’ Specific Immunological and Biochemical Biomarkers","authors":"Zahraa Alkhazaali-Ali, Sajad Sahab-Negah, Amir Reza Boroumand, Najmeh Kaffash Farkhad, Mohammad Ali Khodadoust, Jalil Tavakol-Afshari","doi":"10.3390/diseases12050099","DOIUrl":"https://doi.org/10.3390/diseases12050099","url":null,"abstract":"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 × 106 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.","PeriodicalId":11200,"journal":{"name":"Diseases","volume":"106 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140987104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Single-Center Experience in Combined Oncological–Surgical Treatment for Resectable Locally Advanced Non-Small Cell Lung Cancer (NSCLC) 可切除的局部晚期非小细胞肺癌 (NSCLC) 肿瘤外科联合治疗的单中心经验

Diseases Pub Date : 2024-05-12 DOI: 10.3390/diseases12050098

D. Faber, A. Agbarya, Ben Caspy, Moshe Lapidot, Shoshana Keren Rosenberg, Sonia Schneer, Erez Sharoni, R. Galili

{"title":"A Single-Center Experience in Combined Oncological–Surgical Treatment for Resectable Locally Advanced Non-Small Cell Lung Cancer (NSCLC)","authors":"D. Faber, A. Agbarya, Ben Caspy, Moshe Lapidot, Shoshana Keren Rosenberg, Sonia Schneer, Erez Sharoni, R. Galili","doi":"10.3390/diseases12050098","DOIUrl":"https://doi.org/10.3390/diseases12050098","url":null,"abstract":"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.","PeriodicalId":11200,"journal":{"name":"Diseases","volume":"111 25","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140987020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0