Diseases (Basel, Switzerland)最新文献

{"title":"An Analysis of Primary Hyperparathyroidism in Individuals Diagnosed with Multiple Endocrine Neoplasia Type 2.","authors":"Ana-Maria Gheorghe, Claudiu Nistor, Alexandru-Florin Florescu, Mara Carsote","doi":"10.3390/diseases13040098","DOIUrl":"https://doi.org/10.3390/diseases13040098","url":null,"abstract":"<p><p><b>Background:</b> Primary hyperparathyroidism (PHPT) represents a multi-faced disease with a wide spectrum of manifestations. Familial forms of PHPT (affecting up to 10% of the cases) involve a particular category that encompasses a large range of hereditary syndromes, including parathyroid hyper-function, frequently in the setting of a multi-glandular disease. <b>Objective</b>: The aim was to analyze the most recent findings regarding PHPT in multiple endocrine neoplasia type 2 (MEN2) to a better understanding of the timing with respect to the associated ailments, MEN2-related PHPT (MEN2-PHPT) clinical and genetic particularities, optimum diagnostic, and overall management, particularly, surgical outcomes. <b>Methods:</b> This was a PubMed-based compressive review with regard to the latest data published in English from January 2020 until January 2025, using the following keywords: \"primary hyperparathyroidism\" and \"multiple endocrine neoplasia\", \"multiple endocrine neoplasia type 2\", \"MEN2\", or \"MEN2A\". We included original full-length studies of any study design that provided clinically relevant data in MEN2-PHPT and excluded reviews, meta-analysis, and case reports/series. <b>Results:</b> A total of 3783 individuals confirmed with MEN2 or <i>RET</i> pathogenic variants carriers were analyzed across 14 studies that provided data on PHPT. The prevalence of MEN2-PHPT subjects varied between 7.84% and 31.3%, with particularly low rates in non-index patients (3.8%). PHPT was the first syndrome manifestation in 0.9% of MEN2 patients. In terms of gender distribution, females represented 42.85% or 54.9% (similar rates between women and men, and only a single cohort showed a female rate up to 80%). Most subjects were diagnosed with PHPT and underwent surgery in the third or fourth decade of life. The highest median age at MEN2 diagnosis was 42 years. The youngest patients were <i>RET</i> pathogenic variants carriers who underwent (genetic) screening with median ages of 12 or 14 years. <i>RET</i> pathogenic variants analysis (n = 10/14 studies) showed that 16.67% of patients with p.Cys634Arg and 37.5% of those with p.Cys611Tyr had symptomatic PHPT, while those with p.Cys618Phe and p.Leu790Phe were asymptomatic. Timing analysis with respect to the medullary thyroid carcinoma diagnosis showed synchronous PHPT diagnosis in 80% and metachronous in 10% of MEN2 patients; with respect to MEN2-pheochromocytoma, synchronous diagnosis of PHPT was found in 56%, while pheochromocytoma was identified before PHPT in 22% of the cases and after PHPT in 22%. Studies (n = 10/14, N = 156 subjects with MEN2-PHPT) on parathyroidectomy identified that 72.7% to 100% of the individuals underwent surgery, typically performed in adulthood, at ages spanning from a mean of 34.7 to 48.5 years. The post-surgery outcomes varied (e.g., the rate for persistent PHPT was of 0%, 8% to 16.7%; recurrent PHPT of 12.5% to 23%; permanent hypoparathyroidism of 33% to 46%; permanent unil","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999327","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}

{"title":"Impact of Cardiovascular-Kidney-Metabolic Syndrome Staging on Myocardial Infarction Outcomes: A Retrospective Analysis of 2.7 Million Patients.","authors":"Ronny Shabtai, Marlon Villaga Gatuz, Adam Folman, Maguli S Barel, Rami Abu-Fanne, Dmitry Abramov, Mamas A Mamas, Ariel Roguin, Ofer Kobo","doi":"10.3390/diseases13040097","DOIUrl":"https://doi.org/10.3390/diseases13040097","url":null,"abstract":"<p><p><b>Background</b>: Cardiovascular-kidney-metabolic (CKM) syndrome, recently defined by the American Heart Association, encompasses the interplay between obesity, diabetes, chronic kidney disease, and cardiovascular disease. This study aimed to investigate the impact of CKM syndrome severity on outcomes in patients with acute myocardial infarction (AMI). <b>Methods</b>: A retrospective analysis was conducted using the National Inpatient Sample database from 2016 to 2019. Adult patients hospitalized with AMI were stratified into CKM Stages 0-4 based on ICD-10 codes. Multivariable logistic regression models were used to examine associations between CKM stages and in-hospital procedures and outcomes. <b>Results</b>: The study analyzed 2,768,154 AMI cases. Advanced CKM stages were associated with older age and a higher proportion of males. Patients with severe CKM were more likely to undergo invasive procedures. Coronary angiography showed the strongest association in CKM Stage 4A (aOR: 6.86, 95% CI: 6.73-6.99, <i>p</i>-value < 0.001) and Stage 4B (aOR: 3.87, 95% CI: 3.80-3.95, <i>p</i>-value < 0.001). Similarly, the likelihood of PCI was highest in Stage 4A (aOR: 5.93, 95% CI: 5.79-6.08, <i>p</i>-value < 0.001) and Stage 4B (aOR: 4.14, 95% CI: 4.04-4.24, <i>p</i>-value < 0.001). Notably, patients with CKM Stage 0 demonstrated higher odds of adverse outcomes compared to other stages. <b>Conclusions</b>: This study reveals a complex relationship between CKM syndrome severity and AMI outcomes. Patients with advanced CKM stages were more likely to undergo invasive procedures, and those without CKM risk factors unexpectedly showed worse outcomes. Among Stages 1-4B, no consistently graded association emerged between the CKM stage and adverse outcomes. These findings warrant further investigation into underlying mechanisms and long-term prognosis.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12026123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059147","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}

{"title":"Effectiveness of Intraoperative Facial Nerve Monitoring in Submandibular Gland Surgery: A Retrospective Study of a Single Institution.","authors":"Maria Giulia Cristofaro, Francesco Ferragina, Giuseppe Tarallo, Angelo Ruggero Sottile, Maria Grazia Ioppolo, Antonella Arrotta, Teresa Chiara De Bartolo, Ida Barca","doi":"10.3390/diseases13040096","DOIUrl":"https://doi.org/10.3390/diseases13040096","url":null,"abstract":"<p><strong>Background: </strong>Intraoperative facial nerve monitoring (IFNM) is becoming increasingly prevalent as an established intraoperative aid in parotid gland surgery. To date, however, there are few scientific studies on the postoperative outcomes of submandibular gland surgery, particularly on the postoperative injury of the marginalis mandibulae branch (MMB) of the facial nerve (FN). This branch represents the most frequent and feared complication of this surgery, with an incidence of 1-7% of cases.</p><p><strong>Objective: </strong>This retrospective study aims to evaluate the incidence of postoperative MMB paralysis in patients undergoing submandibular sialoadenectomy for benign conditions from 2014 to 2023, focusing on the role of IFNM.</p><p><strong>Materials and methods: </strong>The patients were divided into two groups: the subjects of Group 1 (G1) had undergone submandibular sialoadenectomy after identification and clamped facial vessels, without the aid of IFNM (from 1 January 2014 to 31 December 2018). Conversely, subjects in Group 2 (G2) underwent IFNM procedures (from 1 January 2019 to 31 December 2023). The classification of any FN malfunctions was conducted following the House-Brackmann grading system. A descriptive analysis was performed, and univariate and multivariate logistic regressions were used to examine the impact of IFNM on surgical timing and the association between G2 deficit (vs. G1) corrected for age, sex, and smoking status.</p><p><strong>Results: </strong>The study population comprised a total of 101 patients with a mean age of 55 ± 16 years. The sample population comprised 50 subjects assigned to Group 1 (49.5%, 24 females and 26 males) and 51 subjects assigned to Group 2 (50.5%, 21 males and 30 females). Postoperative paralysis of the MMB occurred in 23 subjects (22.77%), including 12 of G1 (4 had a grade II and 8 grade III dysfunction) and 11 of G2 (8 had a grade II and 3 grade III dysfunction). A six-month evaluation revealed that only five patients in G1, previously diagnosed with grade II dysfunction, exhibited a residual deficit. The mean surgical time for the entire patient cohort was 99 ± 44 min: 110 ± 43 min for Group 1 and 92 ± 42 min for Group 2 (Beta = -19; 95% CI -37 at -0.16; <i>p</i>-value = 0.048). Furthermore, a longer operative time was observed in smokers than in non-smokers (<i>p</i>-value = 0.008), suggesting that smoking affects the length of surgery (Beta = 0.32; 95% CI -0.08 to -0.55).</p><p><strong>Discussion and conclusions: </strong>MMB paralysis is one of the most prevalent complications that may arise in submandibular gland surgery. IFNM provides surgeons with a valuable tool for identifying MMB in submandibular sialoadenectomy. The efficacy of IFNM as an aid is contingent upon the expertise of the operating surgeon.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144042504","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}

{"title":"Low-Carbohydrate (Ketogenic) Diet in Children with Obesity: Part 1-Diet Impact on Anthropometric Indicators and Indicators of Metabolic Syndrome and Insulin Resistance.","authors":"Ivanka N Paskaleva, Nartsis N Kaleva, Teodora D Dimcheva, Petya P Markova, Ivan S Ivanov","doi":"10.3390/diseases13040094","DOIUrl":"https://doi.org/10.3390/diseases13040094","url":null,"abstract":"<p><strong>Background: </strong>The ketogenic diet has been successfully used in the last 100 years in the treatment of epilepsy and other neurological disorders. In recent decades, it gained wider application in the treatment of obesity, metabolic syndrome, and type 2 diabetes. However, there have been only a few studies on its use in children with obesity and associated metabolic disorders.</p><p><strong>Objectives: </strong>To determine the clinical and metabolic effects of a well-formulated low-carbohydrate (ketogenic) diet in children with obesity.</p><p><strong>Methods: </strong>One hundred children with obesity and metabolic disorders underwent initial anthropometric, laboratory, and ultrasound examinations. They were placed on a well-formulated ketogenic diet and monitored for 4 months. The 58 patients who completed the study underwent follow-up examinations to assess the effects of the diet on anthropometric, clinical, and laboratory markers of metabolic syndrome and insulin resistance, cardiovascular risk factors, and certain hormone levels. Compliance with the diet, common difficulties in adhering to it, side effects, and positive changes in the patients' health were analyzed.</p><p><strong>Results: </strong>At the end of the study, the average weight loss for the entire group was 6.45 kg, with a reduction in BMI of 3.12 kg/m². Significant improvements were also observed in insulin resistance indicators, including fasting insulin levels, HOMA-IR index, QUICKI (<i>p</i> < 0.0001), and adiponectin (<i>p</i> = 0.04). The cases of hepatosteatosis decreased twofold, the number of patients with arterial hypertension was significantly reduced, as well as the number of children receiving antihypertensive therapy. Additionally, the number of patients meeting the criteria for metabolic syndrome decreased threefold.</p><p><strong>Conclusions: </strong>A well-formulated short-term ketogenic diet is effective in treating obesity, metabolic syndrome, and related comorbidities, and can be part of a comprehensive approach for these patients.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12026416/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051615","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}

{"title":"Quality of Life and Stress-Related Psychological Distress Among Families Caring for Children with Cardiac Malformations Under Conservative Treatment: A Cross-Sectional Study Using the 36-Item Short Form Health Survey, the Perceived Stress Scale, and the Parental Burnout Assessment Scale.","authors":"Andrada Ioana Dumitru, Mirabela Dima, Marioara Boia","doi":"10.3390/diseases13040095","DOIUrl":"https://doi.org/10.3390/diseases13040095","url":null,"abstract":"<p><p>Families caring for children with congenital cardiac malformations under conservative management frequently experience psychological distress, which can compromise their overall quality of life (QoL). Despite growing recognition of the psychosocial burdens these families face, few studies have quantitatively assessed their QoL and stress-related outcomes. We aimed to evaluate the QoL, perceived stress, and parental burnout in caregivers of pediatric patients with cardiac malformations under conservative treatment.</p><p><strong>Methods: </strong>We conducted an observational, cross-sectional study of 78 caregivers (median age of 36 years) whose children (median age was 6.0 months) received conservative management for congenital cardiac malformations. Data were collected at two time points (diagnosis of congenital disease approximately at the time of birth, and six months after diagnosis) using the 36-Item Short Form Health Survey (SF-36), the Perceived Stress Scale (PSS), and the Parental Burnout Assessment (PBA). Statistical analyses included paired t-tests, chi-square tests, and Pearson correlation analyses; <i>p</i>-values < 0.05 were considered statistically significant.</p><p><strong>Results: </strong>Mean SF-36 Physical Component Summary scores significantly increased from 59.7 ± 11.7 at baseline to 63.5 ± 12.1 at six months (<i>p</i> = 0.026). PSS scores decreased from 22.9 ± 6.2 to 20.4 ± 5.9 (<i>p</i> = 0.012), indicating reduced perceived stress. Parental Burnout Assessment total scores also declined from 44.9 ± 8.5 to 40.1 ± 8.0 (<i>p</i> = 0.003). Correlation analyses revealed moderate negative correlations between SF-36 domains and both PSS (r range: -0.40 to -0.58) and PBA (r range: -0.34 to -0.52).</p><p><strong>Conclusions: </strong>Our findings highlight the multifaceted challenges faced by caregivers of children with cardiac malformations under conservative treatment. Improvements in QoL, accompanied by decreased perceived stress and parental burnout over six months, underscore the potential value of both clinical monitoring and targeted psychosocial support. Future research should explore larger, multicenter cohorts and longer follow-up durations to clarify long-term trends. Implementing interventions aimed at alleviating stress and burnout in these families may be pivotal for sustaining well-being and enhancing patient outcome.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025643/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054184","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}

{"title":"A Comprehensive Review of Candidemia and Invasive Candidiasis in Adults: Focus on the Emerging Multidrug-Resistant Fungus <i>Candida auris</i>.","authors":"Deobrat Chandra Mallick, Nayanjyoti Kaushik, Lokesh Goyal, Lipika Mallick, Prabhat Singh","doi":"10.3390/diseases13040093","DOIUrl":"https://doi.org/10.3390/diseases13040093","url":null,"abstract":"<p><p>Candidemia and invasive candidiasis represent critical healthcare-associated fungal infections that pose substantial challenges to medical systems worldwide. These conditions arise when fungi from the Candida genus infiltrate the bloodstream or deeper tissues, leading to a range of clinical manifestations. Among the various species, <i>Candida albicans</i> continues to hold its position as the most frequently encountered causative agent, largely due to its prevalence and adaptability within human hosts. However, it is far from the only significant player; other Candida species, such as <i>Candida glabrata</i>, <i>Candida parapsilosis</i>, and the particularly concerning <i>Candida auris</i>, contribute significantly to the disease burden and exhibit varying dominance depending on geographic regions. The clinical presentation of these infections can differ widely, spanning from subtle, almost imperceptible symptoms in some patients to severe, life-threatening fulminant sepsis in others, often accompanied by alarmingly high mortality rates that underscore the urgency of effective management strategies. Several well-established risk factors predispose individuals to developing invasive candidiasis and candidemia. Breaches in the body's natural barriers-such as the skin (cutaneous) or the gastrointestinal (GI) tract-provide entry points for these opportunistic pathogens. Additionally, deficiencies in the host's immune responses, whether due to medical treatments, underlying diseases, or genetic predispositions, heighten vulnerability to infection. Among the diverse Candida species, <i>Candida auris</i> has emerged as an especially troubling entity in recent years. This multidrug-resistant species is notorious for its resistance to standard antifungal therapies, which complicates treatment efforts and contributes to elevated morbidity and mortality rates. Its rapid global spread has positioned it as a formidable public health threat, prompting heightened surveillance and research into its behavior and control.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"13 4","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12026337/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057964","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}

{"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}

{"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}

{"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⁺⁺/CD16^-), intermediate monocytes (CD14⁺⁺/CD16⁺), non-classical monocytes (CD14⁺/CD16⁺⁺), CD4 T lymphocytes (CD3⁺/CD4⁺), CD8 T lymphocytes (CD3⁺/CD8⁺), B lymphocytes (CD3^-/CD19⁺), NK cells (CD56⁺/CD16⁺), and iNKT cells (CD3⁺/CD56⁺), 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}

{"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}