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Neoadjuvant Chemohormonal Therapy Versus Pelvic Lymphadenectomy on Biochemical Recurrence in Patients with High- or Very-High-Risk Prostate Cancer Undergoing Robot-Assisted Radical Prostatectomy. 新辅助激素化疗与盆腔淋巴结切除术对机器人辅助根治性前列腺癌患者生化复发的影响。
IF 2.9
Diseases (Basel, Switzerland) Pub Date : 2025-03-23 DOI: 10.3390/diseases13040092
Makoto Kawase, Satoshi Washino, Takato Nishino, Takeshi Yamasaki, Hajime Fukushima, Kosuke Iwatani, Tomoaki Miyagawa, Masaki Shimbo, Kojiro Ohba, Jun Miki, Keita Nakane, Takuya Koie
{"title":"Neoadjuvant Chemohormonal Therapy Versus Pelvic Lymphadenectomy on Biochemical Recurrence in Patients with High- or Very-High-Risk Prostate Cancer Undergoing Robot-Assisted Radical Prostatectomy.","authors":"Makoto Kawase, Satoshi Washino, Takato Nishino, Takeshi Yamasaki, Hajime Fukushima, Kosuke Iwatani, Tomoaki Miyagawa, Masaki Shimbo, Kojiro Ohba, Jun Miki, Keita Nakane, Takuya Koie","doi":"10.3390/diseases13040092","DOIUrl":"https://doi.org/10.3390/diseases13040092","url":null,"abstract":"<p><strong>Background/objectives: </strong>The effectiveness of robot-assisted radical prostatectomy (RARP) with extended pelvic lymph node dissection (ePLND) in improving oncological outcomes for patients with high- or very-high-risk prostate cancer (HR/VHR-PCa) remains a subject of debate. This study aimed to compare the efficacy of neoadjuvant chemohormonal therapy (NCHT) and ePLND in reducing biochemical recurrence (BCR) in patients with HR/VHR-PCa undergoing RARP.</p><p><strong>Methods: </strong>This retrospective, multicenter cohort study included 1182 patients with HR/VHR-PCa who underwent RARP at six Japanese institutions. Patients were stratified into three groups: those who received NCHT followed by RARP without ePLND (Group 1), those who received neoadjuvant hormonal therapy (NHT) followed by RARP with ePLND (Group 2), and those who underwent RARP with ePLND (Group 3). The primary endpoint was the rate of BCR, while the secondary endpoint was biochemical recurrence-free survival (BRFS) following RARP.</p><p><strong>Results: </strong>Of the 1182 patients, 154 patients were included in Group 1, 97 patients were included in Group 2, and 470 patients were included in Group 3. By the end of the follow-up period, 243 patients (33.8%) had experienced BCR, 27 (3.7%) had progressed to castration-resistant prostate cancer, and 5 (0.7%) had died from PCa. Over a median follow-up period of 41.4 months, BCR occurred in 16.5% of patients in Group 1, 36.1% of patients in Group 2, and 38.9% in Group 3 (<i>p</i> < 0.001). The 3-year BRFS rate was 63.6% in Group 1, 53.1% in Group 2, and 63.9% in Group 3.</p><p><strong>Conclusions: </strong>The findings of this study indicate that NCHT in patients with HR/VHR-PCa undergoing RARP without ePLND may reduce the risk of postoperative BCR compared to those undergoing RARP with ePLND.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12026419/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Epileptic Encephalopathy Related to CAD Deleterious Variants-A Case Series. 与CAD有害变异相关的癫痫性脑病-一个病例系列。
IF 2.9
Diseases (Basel, Switzerland) Pub Date : 2025-03-22 DOI: 10.3390/diseases13040091
Adelina Glangher, Magdalena Budișteanu, Diana Bârcă, Dana Șurlică, Florentina Ionela Lincă, Doina Ioana, Laurentiu-Camil Bohîlțea, Ina-Ofelia Focșa, Catrinel Iliescu
{"title":"Epileptic Encephalopathy Related to CAD Deleterious Variants-A Case Series.","authors":"Adelina Glangher, Magdalena Budișteanu, Diana Bârcă, Dana Șurlică, Florentina Ionela Lincă, Doina Ioana, Laurentiu-Camil Bohîlțea, Ina-Ofelia Focșa, Catrinel Iliescu","doi":"10.3390/diseases13040091","DOIUrl":"https://doi.org/10.3390/diseases13040091","url":null,"abstract":"<p><strong>Background: </strong>Epilepsy, particularly early-onset and drug-resistant forms, presents a significant challenge in pediatric neurology. Inborn errors of metabolism are increasingly recognized as important contributors to these types of epilepsy. Timely diagnosis and treatment are crucial in preventing irreversible metabolic damage and improving clinical outcomes in CAD deficiency. This condition is a progressive and severe metabolic disorder caused by biallelic deleterious variants in <i>CAD</i> gene, and is characterized by long seizures, psychomotor regression, and dyserythropoietic anemia.</p><p><strong>Methods: </strong>In this paper, we present four new cases of EIEE-50, emphasizing the importance of early, specific therapeutic interventions.</p><p><strong>Results: </strong>Oral uridine 100 mg/kg/day was administrated with improvement of motor and cognitive function as well as immediate seizures control.</p><p><strong>Conclusions: </strong>Our findings underscore the potential for improved outcomes of EIEE-50 trought timely diagnosis and targeted treatment strategies, reinforcing the role of uridine supplementation as a promising therapeutic approach.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12026011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144024976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Leukocyte Dysregulation and Biochemical Alterations in End-Stage Kidney Disease Patients Under Hemodialysis. 终末期肾脏疾病血液透析患者白细胞失调和生化改变。
IF 2.9
Diseases (Basel, Switzerland) Pub Date : 2025-03-21 DOI: 10.3390/diseases13040090
Gabriela Goyoneche Linares, Daysi Zulema Diaz-Obregón, Ana Granda Alacote, Michael Bryant Castro Núñez, María Gracia Castañeda Torrico, Alexis Germán Murillo Carrasco, Cesar Liendo Liendo, Katherine Susan Rufasto Goche, Víctor Arrunátegui Correa, Joel de León Delgado
{"title":"Leukocyte Dysregulation and Biochemical Alterations in End-Stage Kidney Disease Patients Under Hemodialysis.","authors":"Gabriela Goyoneche Linares, Daysi Zulema Diaz-Obregón, Ana Granda Alacote, Michael Bryant Castro Núñez, María Gracia Castañeda Torrico, Alexis Germán Murillo Carrasco, Cesar Liendo Liendo, Katherine Susan Rufasto Goche, Víctor Arrunátegui Correa, Joel de León Delgado","doi":"10.3390/diseases13040090","DOIUrl":"https://doi.org/10.3390/diseases13040090","url":null,"abstract":"<p><strong>Background: </strong>Patients with chronic kidney disease (CKD) exhibit changes in leukocyte dynamics, leading to altered hematological and biochemical parameters and deteriorating kidney function. In this study, we aim to investigate the correlation between leukocyte subpopulations and hematological and biochemical parameters in patients with end-stage CKD undergoing hemodialysis.</p><p><strong>Methods: </strong>This descriptive, analytical, cross-sectional study included 20 end-stage CKD patients on hemodialysis. Leukocyte subpopulations, including classical monocytes (CD14<sup>++</sup>/CD16<sup>-</sup>), intermediate monocytes (CD14<sup>++</sup>/CD16<sup>+</sup>), non-classical monocytes (CD14<sup>+</sup>/CD16<sup>++</sup>), CD4 T lymphocytes (CD3<sup>+</sup>/CD4<sup>+</sup>), CD8 T lymphocytes (CD3<sup>+</sup>/CD8<sup>+</sup>), B lymphocytes (CD3<sup>-</sup>/CD19<sup>+</sup>), NK cells (CD56<sup>+</sup>/CD16<sup>+</sup>), and iNKT cells (CD3<sup>+</sup>/CD56<sup>+</sup>), were analyzed using flow cytometry.</p><p><strong>Results: </strong>Patients with end-stage CKD on hemodialysis have decreased classical monocytes and increased non-classical monocytes frequency. A positive correlation was observed between non-classical monocytes and total lymphocytes (Rho-Spearman: R = 0.495, <i>p</i> = 0.027) as well as B lymphocytes (R = 0.567, <i>p</i> < 0.05). We discerned the immunological characteristics of diabetic kidney disease (DKD) and CKD due to other causes in this balanced cohort: B lymphocytes negatively correlate with alkaline phosphatase (R = -0.764, <i>p</i> < 0.05), parathyroid hormone (R = -0.929, <i>p</i> < 0.05), and ferritin (R = -0.893, <i>p</i> < 0.05). Additionally, in DKD, non-classical monocytes positively correlate with eosinophils (R = +0.691; <i>p</i> = 0.019) and classic monocytes with neutrophils (R = +0.627, <i>p</i> = 0.039). Meanwhile, a correlation between either total T lymphocytes or helper T lymphocytes and serum albumin was detected on patients with nephropathy due to other causes.</p><p><strong>Conclusions: </strong>CKD alters classical and non-classical monocyte frequency, whilst T and B lymphocyte frequency positively correlates to the proinflammatory non-classical monocytes. In DKD patients, the uremic environment increases classic monocytes, CD16+ inflammatory monocytes, neutrophils, eosinophils, and B lymphocytes. The described leukocyte dynamic correlates with alkaline phosphatase, parathyroid hormone, iron, and serum albumin serological concentration.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12026279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Significance of LINC00261 in the Pathogenesis of Pancreatic, Colorectal, Hepatocellular, and Gallbladder Cancer. LINC00261在胰腺癌、结直肠癌、肝细胞癌和胆囊癌发病机制中的临床意义
IF 2.9
Diseases (Basel, Switzerland) Pub Date : 2025-03-20 DOI: 10.3390/diseases13030089
Sanjana Bana, Sia Daffara, Aastha Dagar, Ashutosh Kumar Tiwari, Kanupriya Medhi, Sagarika Mukherjee, Vivek Uttam, Md Rizwan Ansari, Hardeep Singh Tuli, Vikas Yadav, Aklank Jain
{"title":"Clinical Significance of <i>LINC00261</i> in the Pathogenesis of Pancreatic, Colorectal, Hepatocellular, and Gallbladder Cancer.","authors":"Sanjana Bana, Sia Daffara, Aastha Dagar, Ashutosh Kumar Tiwari, Kanupriya Medhi, Sagarika Mukherjee, Vivek Uttam, Md Rizwan Ansari, Hardeep Singh Tuli, Vikas Yadav, Aklank Jain","doi":"10.3390/diseases13030089","DOIUrl":"10.3390/diseases13030089","url":null,"abstract":"<p><p>Pancreatic (PC), colorectal (CRC), hepatocellular (HCC), and gallbladder (GC) cancers together account for nearly 20% of all cancer cases. However, specific biomarkers and therapeutic targets for these cancers are lacking. Diagnosing these cancers early and providing timely, appropriate treatment to improve patient outcomes is crucial. In this context, previous studies, including ours, have highlighted the potential of non-coding RNAs, particularly long non-coding RNAs (lncRNAs), in diagnosing and prognosis of various cancers. This review focuses on the mechanistic role of the recently identified lncRNA <i>LINC00261</i> in PC, CRC, HCC, and GC. Our comprehensive literature analysis revealed that <i>LINC00261</i> functions as a tumor suppressor, and its reduced expression is associated with larger tumor size, advanced tumor-node-metastasis (TNM) stages, lymphatic metastasis, and poorer overall survival rates. Additionally, we discovered that <i>LINC00261</i> acts as a molecular sponge for miRNAs, such as miR-550a-3p, miR-23a-3p, miR-148a, miR-324-3p, and miR-105-5p, regulating critical cancer-related signaling pathways, including PI3K/Akt/mTOR, Protein kinase B, and Mammalian target of rapamycin (mTOR). Further bioinformatic analysis revealed that <i>LINC00261</i> regulates key cellular processes, such as protein-DNA complex formation, ribonuclease complex activity, histone deacetylase complexes, and nuclear matrix interactions. Overall, we believe that <i>LINC00261</i> holds significant promise as a future biomarker and, when combined with existing treatment strategies, may enhance cancer patient care and survival.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 3","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Early Evaluation of the Short Physical Performance Battery in Hospitalized Patients with Chronic Kidney Disease Predicts Long-Term Hospitalization. 慢性肾病住院患者短期体能电池的早期评估可预测长期住院。
IF 2.9
Diseases (Basel, Switzerland) Pub Date : 2025-03-19 DOI: 10.3390/diseases13030088
Takashi Amari, Eiji Kubo, Yota Kuramochi, Shota Onoda, Kyosuke Fukuda, Emi Yokoyama, Masami Kimura, Tomoyuki Arai
{"title":"Early Evaluation of the Short Physical Performance Battery in Hospitalized Patients with Chronic Kidney Disease Predicts Long-Term Hospitalization.","authors":"Takashi Amari, Eiji Kubo, Yota Kuramochi, Shota Onoda, Kyosuke Fukuda, Emi Yokoyama, Masami Kimura, Tomoyuki Arai","doi":"10.3390/diseases13030088","DOIUrl":"10.3390/diseases13030088","url":null,"abstract":"<p><strong>Background: </strong>The relationship between hospitalization duration and physical function in patients with chronic kidney disease (CKD) has not been thoroughly investigated. This study aimed to determine whether assessment of physical function one week after hospitalization can predict the length of stay in patients with CKD.</p><p><strong>Methods: </strong>A retrospective study was conducted on hospitalized patients with CKD who underwent rehabilitation between March 2019 and March 2020. Physical function was evaluated using the Short Physical Performance Battery (SPPB), grip strength, and Barthel Index and analyzed alongside clinical data.</p><p><strong>Results: </strong>The mean age of the participants was 73.4 ± 11.9 years, with 92% having stage G4 or G5 CKD. Multivariate analysis revealed that the SPPB (β = -0.33, <i>p</i> < 0.01) at one week after admission was significantly associated with the length of hospital stay (R<sup>2</sup> = 0.11, <i>p</i> < 0.02). Notably, in the subgroup of patients who were transferred to other facilities, the SPPB alone showed a strong association with the length of stay (β = -0.66, <i>p</i> < 0.03, R<sup>2</sup> = 0.23, <i>p</i> < 0.05).</p><p><strong>Conclusions: </strong>The SPPB score in the early stages of hospitalization for patients with CKD was found to be a significant predictor of the length of stay, even after considering the eGFR and the Charlson Comorbidity Index. These findings may contribute to optimizing inpatient management and rehabilitation strategies for patients with CKD.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 3","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Immunomodulatory Effect of Rivaroxaban Nanoparticles Alone and in Combination with Sitagliptin on Diabetic Rat Model. 利伐沙班纳米颗粒单用及联合西格列汀对糖尿病大鼠模型的免疫调节作用。
IF 2.9
Diseases (Basel, Switzerland) Pub Date : 2025-03-19 DOI: 10.3390/diseases13030087
Mohamed M Elbadr, Heba A Galal, Helal F Hetta, Hassabelrasoul Elfadil, Fawaz E Alanazi, Shereen Fawzy, Hashim M Aljohani, Noura H Abd Ellah, Marwa F Ali, Ahmed K Dyab, Esraa A Ahmed
{"title":"Immunomodulatory Effect of Rivaroxaban Nanoparticles Alone and in Combination with Sitagliptin on Diabetic Rat Model.","authors":"Mohamed M Elbadr, Heba A Galal, Helal F Hetta, Hassabelrasoul Elfadil, Fawaz E Alanazi, Shereen Fawzy, Hashim M Aljohani, Noura H Abd Ellah, Marwa F Ali, Ahmed K Dyab, Esraa A Ahmed","doi":"10.3390/diseases13030087","DOIUrl":"10.3390/diseases13030087","url":null,"abstract":"<p><strong>Background: </strong>Chronic inflammation and immune dysregulation are key drivers of diabetes complications. Rivaroxaban (RX) and sitagliptin (SITA) are established therapies for thromboembolism and glycemic control, respectively. This study evaluated the novel therapeutic potential of nano-rivaroxaban (NRX) alone and in combination with sitagliptin (SITA) in mitigating inflammation and restoring immune balance in streptozotocin (STZ)-induced diabetic rats.</p><p><strong>Methods: </strong>Type 2 diabetes was induced in rats using a single injection of STZ (60 mg/kg). Animals were divided into five groups: control, STZ-diabetic, RX-treated (5 mg/kg), NRX-treated (5 mg/kg), and NRX+SITA-treated (5 mg/kg + 10 mg/kg). After 4 weeks of treatment, blood glucose, coagulation markers, pro-inflammatory cytokines (TNF-α, IL-1β, IL-6), and anti-inflammatory cytokines (IL-35, TGF-β1, IL-10) were analyzed. Histopathological examination of the liver, kidney, pancreas, and spleen was conducted. Immunohistochemistry was used to assess hepatic NF-κB expression.</p><p><strong>Results: </strong>STZ significantly elevated pro-inflammatory cytokines (IL-1β, TNF-α, IL-6) and anti-inflammatory cytokines (IL-35, TGF-β1, IL-10), along with increased hepatic NF-κB expression and histopathological abnormalities in immune organs. NRX significantly reduced inflammatory cytokines, improved histopathological changes in organs, and decreased hepatic NF-κB expression. The combination therapy (NRX + SITA) achieved superior immune modulation, with enhanced cytokine profile restoration, reduced hepatic NF-κB expression, and near-complete histopathological normalization.</p><p><strong>Conclusions: </strong>This study underscores the promise of combining nanoparticle-based drug delivery with established therapies like sitagliptin to achieve superior immune modulation and inflammation control, presenting a potential therapeutic strategy for managing diabetes complications.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 3","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genomic Landscape of Breast Cancer: Study Across Diverse Ethnic Groups. 乳腺癌的基因组景观:跨不同种族的研究。
IF 2.9
Diseases (Basel, Switzerland) Pub Date : 2025-03-17 DOI: 10.3390/diseases13030086
Asbiel Felipe Garibaldi-Ríos, Luis E Figuera, Guillermo Moisés Zúñiga-González, Belinda Claudia Gómez-Meda, Ana María Puebla-Pérez, Alicia Rivera-Cameras, María Teresa Magaña-Torres, José Elías García-Ortíz, Ingrid Patricia Dávalos-Rodríguez, Mónica Alejandra Rosales-Reynoso, Patricia Montserrat García-Verdín, Irving Alejandro Carrillo-Dávila, Blanca Miriam Torres-Mendoza, Guadalupe Ávalos-Navarro, Martha Patricia Gallegos-Arreola
{"title":"Genomic Landscape of Breast Cancer: Study Across Diverse Ethnic Groups.","authors":"Asbiel Felipe Garibaldi-Ríos, Luis E Figuera, Guillermo Moisés Zúñiga-González, Belinda Claudia Gómez-Meda, Ana María Puebla-Pérez, Alicia Rivera-Cameras, María Teresa Magaña-Torres, José Elías García-Ortíz, Ingrid Patricia Dávalos-Rodríguez, Mónica Alejandra Rosales-Reynoso, Patricia Montserrat García-Verdín, Irving Alejandro Carrillo-Dávila, Blanca Miriam Torres-Mendoza, Guadalupe Ávalos-Navarro, Martha Patricia Gallegos-Arreola","doi":"10.3390/diseases13030086","DOIUrl":"10.3390/diseases13030086","url":null,"abstract":"<p><p><b>Background</b>: Breast cancer (BC) is the most common cancer among women worldwide, with incidence and mortality rates varying across ethnic groups due to sociodemographic, clinicopathological, and genomic differences. This study aimed to characterize the genomic landscape of BC in diverse ethnic groups using computational tools to explore these variations. <b>Methodology</b>: cBioPortal was used to analyze genomic, clinicopathological, and sociodemographic data from 1084 BC samples. Mutated genes were classified based on GeneCards platform data. Enrichment analysis was performed with CancerHallmarks, and genes not found were compared with MSigDB's Hallmark Gene Sets. Genes absent from both were further analyzed using NDEx through Cytoscape.org to explore their role in cancer. <b>Results</b>: Significant differences (<i>p</i> < 0.05) were observed in sex, tumor subtypes, genetic ancestry, median of the fraction of the altered genome, mutation count, and mutation frequencies of genes across ethnic groups. We identified the most frequently mutated genes. Some of these genes were found to be associated with classic cancer hallmarks, such as replicative immortality, sustained proliferative signaling, and the evasion of growth suppressors. However, the exact role of some of these genes in cancer remains unclear, highlighting the need for further research to better understand their involvement in tumor biology. <b>Conclusions</b>: This study identified significant clinicopathological and genomic variations in BC across ethnic groups. While key genes associated with cancer hallmarks were found, the incomplete characterization of some highlights the need for further research, especially focusing on ethnic groups, to understand their role in tumor biology and improve personalized treatments.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 3","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Surgical Treatment of Enchondromas of the Hand: Our Experience in Curettage Only and Early Mobilization. 手部内生纤维瘤的手术治疗:仅刮除和早期活动的经验。
IF 2.9
Diseases (Basel, Switzerland) Pub Date : 2025-03-16 DOI: 10.3390/diseases13030084
Silvia Pietramala, Giuseppe Rovere, Camilla Ravaioli, Ciro Mignano, Amarildo Smakaj, Andrea Fidanza, Pasquale Farsetti, Lorenzo Rocchi, Camillo Fulchignoni
{"title":"Surgical Treatment of Enchondromas of the Hand: Our Experience in Curettage Only and Early Mobilization.","authors":"Silvia Pietramala, Giuseppe Rovere, Camilla Ravaioli, Ciro Mignano, Amarildo Smakaj, Andrea Fidanza, Pasquale Farsetti, Lorenzo Rocchi, Camillo Fulchignoni","doi":"10.3390/diseases13030084","DOIUrl":"10.3390/diseases13030084","url":null,"abstract":"<p><p>(1) Background: Enchondroma is one of the most common primary tumors of the hand. Usually asymptomatic, it can present with pain, deformity, and sometimes pathologic fractures. Surgical treatment is advised in these cases. Curettage is the basic treatment, but there is no consensus in the literature regarding post-void filling. The aim of our study is to present simple curettage and early mobilization as a safe and effective treatment. (2) Methods: We retrospectively analyzed patients treated at our center between 2020 and 2024. Each patient was treated with simple curettage and early mobilization. We collected demographic data and follow-up data. (3) Conclusions: We recorded no complications in our cohort, pointing out that our method is safe and reliable without any kind of immobilization. Bone grafts and other methods such as cement are good options but should be considered in specific cases.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 3","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941217/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of Personalized Recovery Interventions on Spinal Instability and Psychological Distress in Oncological Patients with Vertebral Metastases. 个体化康复干预对肿瘤转移患者脊柱不稳定和心理困扰的影响。
IF 2.9
Diseases (Basel, Switzerland) Pub Date : 2025-03-16 DOI: 10.3390/diseases13030085
Noémi Németh, Florica Voiță-Mekeres, Liviu Lazăr, Lavinia Davidescu, Călin Tudor Hozan
{"title":"Impact of Personalized Recovery Interventions on Spinal Instability and Psychological Distress in Oncological Patients with Vertebral Metastases.","authors":"Noémi Németh, Florica Voiță-Mekeres, Liviu Lazăr, Lavinia Davidescu, Călin Tudor Hozan","doi":"10.3390/diseases13030085","DOIUrl":"10.3390/diseases13030085","url":null,"abstract":"<p><strong>Background: </strong>Patients with vertebral metastases often experience spinal instability, chronic pain, and psychological distress, all of which can significantly reduce quality of life. Spinal instability, measured by the Spinal Instability Neoplastic Score (SINS), may exacerbate functional impairment and emotional distress, underscoring the potential benefit of personalized recovery interventions.</p><p><strong>Material and methods: </strong>This prospective, observational study investigated the impact of personalized recovery interventions on spinal instability, psychological distress, and quality of life in oncological patients with vertebral metastases.</p><p><strong>Results: </strong>The experimental group received tailored rehabilitation strategies, while the control group underwent standard oncological care. Spinal instability was assessed using the Spinal Instability Neoplastic Score (SINS), psychological distress was measured with the Hopelessness Depression Symptom Questionnaire (HDSQ), and quality of life was evaluated using the European Quality of Life-5 Dimensions (EQ-5D). The experimental group demonstrated significantly lower mean SINS scores, indicating reduced spinal instability, and lower HDSQ scores, suggesting decreased psychological distress. They also exhibited improvements in mobility, self-care, usual activities, and anxiety/depression dimensions of the EQ-5D. Furthermore, the experimental group had longer survival times, lower fracture rates, and reduced prevalence of osteoporosis, anemia, and vomiting. These findings underscore the potential benefits of integrating physical and psychological rehabilitation into routine oncological management.</p><p><strong>Conclusions: </strong>Personalized recovery interventions appear to enhance functional independence, emotional well-being, and overall quality of life in patients with vertebral metastases. Future research should focus on longitudinal, multicenter, randomized controlled trials to confirm these findings and further elucidate the complex interplay between spinal instability, psychological distress, and functional recovery.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 3","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An Application for Spatial Frailty Models: An Exploration with Data on Fungal Sepsis in Neonates. 空间脆弱性模型的应用:对新生儿真菌性败血症数据的探索。
IF 2.9
Diseases (Basel, Switzerland) Pub Date : 2025-03-14 DOI: 10.3390/diseases13030083
Palaniyandi Paramasivam, Nagaraj Jaganathasamy, Srinivasan Ramalingam, Vasantha Mahalingam, Selvam Nagarajan, Fayaz Ahamed Shaik, Sundarakumar Karuppasamy, Adhin Bhaskar, Padmanaban Srinivasan, Tamizhselvan Manoharan, Adalarasan Natesan, Ponnuraja Chinnaiyan
{"title":"An Application for Spatial Frailty Models: An Exploration with Data on Fungal Sepsis in Neonates.","authors":"Palaniyandi Paramasivam, Nagaraj Jaganathasamy, Srinivasan Ramalingam, Vasantha Mahalingam, Selvam Nagarajan, Fayaz Ahamed Shaik, Sundarakumar Karuppasamy, Adhin Bhaskar, Padmanaban Srinivasan, Tamizhselvan Manoharan, Adalarasan Natesan, Ponnuraja Chinnaiyan","doi":"10.3390/diseases13030083","DOIUrl":"10.3390/diseases13030083","url":null,"abstract":"<p><strong>Background: </strong>Globally, neonatal fungal sepsis (NFS) is a leading cause of neonatal mortality, particularly among vulnerable populations in neonatal intensive care units (NICU). The use of spatial frailty models with a Bayesian approach to identify hotspots and risk factors for neonatal deaths due to fungal sepsis has not been explored before.</p><p><strong>Methods: </strong>A cohort of 80 neonates admitted to the NICU at a Government Hospital in Tamil Nadu, India and diagnosed with fungal sepsis through blood cultures between 2018-2020 was considered for this study. Bayesian spatial frailty models using parametric distributions, such as Log-logistic, Log-normal, and Weibull proportional hazard (PH) models, were employed to identify associated risk factors for NFS deaths and hotspot areas using the R version 4.1.3 software and QGIS version 3.26 (Quantum Geographic Information System).</p><p><strong>Results: </strong>The spatial parametric frailty models were found to be good models for analyzing NFS data. Abnormal levels of activated thromboplastin carried a significantly higher risk of death in neonates across all PH models (Log-logistic, Hazard Ratio (HR), 95% Credible Interval (CI): 22.12, (5.40, 208.08); Log-normal: 20.87, (5.29, 123.23); Weibull: 18.49, (5.60, 93.41). The presence of hemorrhage also carried a risk of death for the Log-normal (1.65, (1.05, 2.75)) and Weibull models (1.75, (1.07, 3.12)). Villivakkam, Tiruvallur, and Poonamallee blocks were identified as high-risk areas.</p><p><strong>Conclusions: </strong>The spatial parametric frailty models proved their effectiveness in identifying these risk factors and quantifying their association with mortality. The findings from this study underline the importance of the early detection and management of risk factors to improve survival outcomes in neonates with fungal sepsis.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 3","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941533/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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