Background: Herpes zoster (HZ) represents a substantial public health concern among aging populations, yet regional variability in clinical patterns and risk determinants remains insufficiently documented. In southeastern Romania, epidemiological data are limited, and the combined influence of demographic, behavioral, and metabolic factors on disease severity has not been systematically evaluated.
Methods: We performed a retrospective observational study including 100 consecutive patients diagnosed with HZ between 2019 and 2023 in a dermatology department in southeastern Romania. Demographic characteristics, lifestyle behaviors, anthropometric status, clinical manifestations, and outcomes were extracted from medical records. Associations between categorical variables were assessed using Chi-square tests and Cramer's V, while interaction patterns were explored through log-linear modeling. Heatmaps were generated in Python (version 3.10) using the Matplotlib library (version 3.7.1) to visualize distribution patterns and subgroup relationships.
Results: The cohort showed a marked age dependence, with 77% of cases occurring in individuals ≥ 60 years, consistent with immunosenescence-driven reactivation. Women represented 59% of cases, and 84.7% of female patients were postmenopausal. Urban residents predominated (91%). Vesicular eruption (84%) and acute pain (79%) were the most frequent symptoms. Localized HZ was observed in 81% of cases, while ophthalmic involvement (11%) and disseminated forms (8%) were less common. Lifestyle factors significantly influenced clinical severity: smokers, alcohol consumers, and sedentary individuals exhibited higher proportions of postherpetic neuralgia (PHN) and ocular complications (p < 0.001). Overweight and obese patients demonstrated a higher burden of PHN, suggesting a role for metabolic inflammation, although BMI was not associated with incidence. No significant association between age category and complication type was detected, likely due to small subgroup sizes despite a clear descriptive trend toward increased severity with advanced age.
Conclusions: These findings support a multifactorial model of HZ severity in southeastern Romania, shaped by age, lifestyle behaviors, hormonal status, and metabolic risk. While incidence patterns align with international data, the strong impact of modifiable factors on complication rates highlights the need for targeted prevention and individualized risk assessment. Results offer a regional perspective that may inform future multicenter investigations.
{"title":"Predictors of Severe Herpes Zoster: Contributions of Immunosenescence, Metabolic Risk, and Lifestyle Behaviors.","authors":"Mariana Lupoae, Fănică Bălănescu, Caterina Nela Dumitru, Aurel Nechita, Mădălina Nicoleta Matei, Simona Claudia Ștefan, Alin Laurențiu Tatu, Elena Niculet, Alina Oana Dumitru, Andreea Lupoae, Dana Tutunaru","doi":"10.3390/diseases14010026","DOIUrl":"10.3390/diseases14010026","url":null,"abstract":"<p><strong>Background: </strong>Herpes zoster (HZ) represents a substantial public health concern among aging populations, yet regional variability in clinical patterns and risk determinants remains insufficiently documented. In southeastern Romania, epidemiological data are limited, and the combined influence of demographic, behavioral, and metabolic factors on disease severity has not been systematically evaluated.</p><p><strong>Methods: </strong>We performed a retrospective observational study including 100 consecutive patients diagnosed with HZ between 2019 and 2023 in a dermatology department in southeastern Romania. Demographic characteristics, lifestyle behaviors, anthropometric status, clinical manifestations, and outcomes were extracted from medical records. Associations between categorical variables were assessed using Chi-square tests and Cramer's V, while interaction patterns were explored through log-linear modeling. Heatmaps were generated in Python (version 3.10) using the Matplotlib library (version 3.7.1) to visualize distribution patterns and subgroup relationships.</p><p><strong>Results: </strong>The cohort showed a marked age dependence, with 77% of cases occurring in individuals ≥ 60 years, consistent with immunosenescence-driven reactivation. Women represented 59% of cases, and 84.7% of female patients were postmenopausal. Urban residents predominated (91%). Vesicular eruption (84%) and acute pain (79%) were the most frequent symptoms. Localized HZ was observed in 81% of cases, while ophthalmic involvement (11%) and disseminated forms (8%) were less common. Lifestyle factors significantly influenced clinical severity: smokers, alcohol consumers, and sedentary individuals exhibited higher proportions of postherpetic neuralgia (PHN) and ocular complications (<i>p</i> < 0.001). Overweight and obese patients demonstrated a higher burden of PHN, suggesting a role for metabolic inflammation, although BMI was not associated with incidence. No significant association between age category and complication type was detected, likely due to small subgroup sizes despite a clear descriptive trend toward increased severity with advanced age.</p><p><strong>Conclusions: </strong>These findings support a multifactorial model of HZ severity in southeastern Romania, shaped by age, lifestyle behaviors, hormonal status, and metabolic risk. While incidence patterns align with international data, the strong impact of modifiable factors on complication rates highlights the need for targeted prevention and individualized risk assessment. Results offer a regional perspective that may inform future multicenter investigations.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12840151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146055161","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}
Background: Chronically non-healing thoracic wounds after cardiac and non-cardiac thoracotomy, including cases when coronary artery bypass grafting (CABG) is performed, represent a great clinical challenge. It is often that a conservative treatment of the wounds does not provide effective regeneration of the damaged tissues. It is especially critical in patients with infected wounds, in patients owning a systemic infection, and in elderly people. Methods: The article presents a case report of successful treatment of a 63-year-old man with refractory chronic osteomyelitis of the sternum and mediastinitis four years after CABG, complicated by COVID-19 at the time of reconstructive surgery. Due to the low effectiveness of conservative treatment methods, a two-stage approach was applied: radical surgical wound debridement followed by infiltration of the wound with allogenic mesenchymal stromal cells (MSCs) of Wharton's jelly (WJ-MSCs). Results: This double-stage therapy successfully modulated the inflammatory environment and stimulated granulation, facilitating final thoracoplasty and osteosynthesis. The patient achieved complete healing of the sternum, demonstrating benefits of WJ-MSCs in treating conservative treatment-resistant infections in the surgical wound. Conclusions: The advantages of using perinatal mesenchymal stem cells, with WJ-MSCs as a type of this class of MSCs, were demonstrated in treating chronically infected sternal surgical wounds. We also compared their regenerative properties to other stem cell types like bone marrow MSCs.
{"title":"Intradermal Application of Allogenic Wharton's Jelly Mesenchymal Stem Cells for Chronic Post-Thoracotomy Wound in an Elderly Patient After Coronary Artery Bypass Grafting: Clinical Case with Brief Literature Review.","authors":"Anastassiya Ganina, Abay Baigenzhin, Elmira Chuvakova, Naizabek Yerzhigit, Anuar Zhunussov, Aizhan Akhayeva, Larissa Kozina, Oleg Lookin, Manarbek Askarov","doi":"10.3390/diseases14010027","DOIUrl":"10.3390/diseases14010027","url":null,"abstract":"<p><p><b>Background:</b> Chronically non-healing thoracic wounds after cardiac and non-cardiac thoracotomy, including cases when coronary artery bypass grafting (CABG) is performed, represent a great clinical challenge. It is often that a conservative treatment of the wounds does not provide effective regeneration of the damaged tissues. It is especially critical in patients with infected wounds, in patients owning a systemic infection, and in elderly people. <b>Methods:</b> The article presents a case report of successful treatment of a 63-year-old man with refractory chronic osteomyelitis of the sternum and mediastinitis four years after CABG, complicated by COVID-19 at the time of reconstructive surgery. Due to the low effectiveness of conservative treatment methods, a two-stage approach was applied: radical surgical wound debridement followed by infiltration of the wound with allogenic mesenchymal stromal cells (MSCs) of Wharton's jelly (WJ-MSCs). <b>Results:</b> This double-stage therapy successfully modulated the inflammatory environment and stimulated granulation, facilitating final thoracoplasty and osteosynthesis. The patient achieved complete healing of the sternum, demonstrating benefits of WJ-MSCs in treating conservative treatment-resistant infections in the surgical wound. <b>Conclusions:</b> The advantages of using perinatal mesenchymal stem cells, with WJ-MSCs as a type of this class of MSCs, were demonstrated in treating chronically infected sternal surgical wounds. We also compared their regenerative properties to other stem cell types like bone marrow MSCs.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12839787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146055130","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}
Background: Early identification of patients at risk for severe acute pancreatitis (SAP) remains a major clinical challenge. Circulating biomarkers reflecting systemic inflammation (IL-6) and endothelial dysfunction (Ang-2) have emerged as promising tools for improving early prediction of persistent organ failure and other adverse outcomes.
Objective: To systematically synthesize and compare the diagnostic and prognostic performance of IL-6 and Ang-2 as early biomarkers of severity in adult patients with acute pancreatitis.
Methods: This systematic review was conducted in accordance with PRISMA 2020 guidelines and prospectively registered in PROSPERO (CRD420251177279). PubMed, Scopus, and Web of Science were searched for studies published between 2000 and August 2025. Studies included adult patients (≥18 years) in whom IL-6 and/or Ang-2 levels were measured within 72 h of symptom onset or hospital admission, and where indices of diagnostic accuracy (AUC, sensitivity, specificity, or threshold values) were reported.
Results: Fifteen cohort studies met the inclusion criteria. IL-6 demonstrated a consistent association with SAP and persistent organ failure, with AUC values ranging from 0.69 to 0.99; the highest accuracy was observed within the first 24 h. Specificity varied substantially across studies. Ang-2 showed uniformly high prognostic accuracy (AUC 0.79-0.98), reliably predicting persistent organ failure, multiorgan dysfunction, infected necrosis, and mortality.
Conclusions: IL-6 exhibits high but heterogeneous diagnostic performance (AUC 0.69-0.99), whereas Ang-2 demonstrates consistently high accuracy (AUC 0.79-0.98) across study designs. Combined evaluation of inflammatory and endothelial pathways appears to offer the most robust strategy for early prediction of persistent organ failure in acute pancreatitis.
背景:早期识别有严重急性胰腺炎(SAP)风险的患者仍然是一个主要的临床挑战。反映全身炎症(IL-6)和内皮功能障碍(Ang-2)的循环生物标志物已成为改善持续器官衰竭和其他不良后果早期预测的有希望的工具。目的:系统合成并比较IL-6和Ang-2作为成年急性胰腺炎患者严重程度的早期生物标志物的诊断和预后价值。方法:本系统评价按照PRISMA 2020指南进行,并在PROSPERO前瞻性注册(CRD420251177279)。PubMed、Scopus和Web of Science检索了2000年至2025年8月之间发表的研究。研究纳入成年患者(≥18岁),在症状发作或入院后72小时内测量IL-6和/或Ang-2水平,并报告诊断准确性指标(AUC、敏感性、特异性或阈值)。结果:15项队列研究符合纳入标准。IL-6显示出与SAP和持续性器官衰竭的一致关联,AUC值在0.69至0.99之间;在前24小时内观察到最高的准确性。不同研究的特异性差异很大。Ang-2表现出一致的高预后准确性(AUC 0.79-0.98),可靠地预测持久性器官衰竭、多器官功能障碍、感染性坏死和死亡率。结论:IL-6具有高但异质性的诊断性能(AUC 0.69-0.99),而Ang-2在研究设计中具有一致的高准确性(AUC 0.79-0.98)。炎症和内皮通路的联合评估似乎为急性胰腺炎持续器官衰竭的早期预测提供了最有力的策略。
{"title":"Comparative Evaluation of the Prognostic Accuracy of IL-6 and Angiopoietin-2 for Early Severity Assessment in Acute Pancreatitis: A Systematic Review.","authors":"Kairat Shakeev, Dmitriy Klyuyev, Alina Ogizbayeva, Aigul Baltabayeva, Olga Avdienko, Xenia Derevyashkina","doi":"10.3390/diseases14010024","DOIUrl":"10.3390/diseases14010024","url":null,"abstract":"<p><strong>Background: </strong>Early identification of patients at risk for severe acute pancreatitis (SAP) remains a major clinical challenge. Circulating biomarkers reflecting systemic inflammation (IL-6) and endothelial dysfunction (Ang-2) have emerged as promising tools for improving early prediction of persistent organ failure and other adverse outcomes.</p><p><strong>Objective: </strong>To systematically synthesize and compare the diagnostic and prognostic performance of IL-6 and Ang-2 as early biomarkers of severity in adult patients with acute pancreatitis.</p><p><strong>Methods: </strong>This systematic review was conducted in accordance with PRISMA 2020 guidelines and prospectively registered in PROSPERO (CRD420251177279). PubMed, Scopus, and Web of Science were searched for studies published between 2000 and August 2025. Studies included adult patients (≥18 years) in whom IL-6 and/or Ang-2 levels were measured within 72 h of symptom onset or hospital admission, and where indices of diagnostic accuracy (AUC, sensitivity, specificity, or threshold values) were reported.</p><p><strong>Results: </strong>Fifteen cohort studies met the inclusion criteria. IL-6 demonstrated a consistent association with SAP and persistent organ failure, with AUC values ranging from 0.69 to 0.99; the highest accuracy was observed within the first 24 h. Specificity varied substantially across studies. Ang-2 showed uniformly high prognostic accuracy (AUC 0.79-0.98), reliably predicting persistent organ failure, multiorgan dysfunction, infected necrosis, and mortality.</p><p><strong>Conclusions: </strong>IL-6 exhibits high but heterogeneous diagnostic performance (AUC 0.69-0.99), whereas Ang-2 demonstrates consistently high accuracy (AUC 0.79-0.98) across study designs. Combined evaluation of inflammatory and endothelial pathways appears to offer the most robust strategy for early prediction of persistent organ failure in acute pancreatitis.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12839801/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146055053","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}
Background: Bone scintigraphy using technetium-99m hydroxymethylene diphosphonate (99mTc-HMDP) is extensively employed to detect bone metastases. However, incidental myocardial uptake may indicate wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM), a frequently overlooked diagnosis with important clinical implications.
Case presentation: Two elderly female patients with a history of breast cancer were subjected to 99mTc-HMDP bone scintigraphy as part of a routine evaluation for possible bone metastases. Both cases demonstrated incidental myocardial uptake (Perugini Grade 2 and Grade 3, respectively), raising suspicion for ATTRwt-CM, which was subsequently confirmed by endomyocardial biopsy.
Review of the literature: We reviewed published studies reporting cardiac uptake on bone scintigraphy, summarizing the frequency, patient demographics, and tracer types, and emphasizing the clinical relevance of this finding in cancer patients.
Conclusions: In oncology patients, bone scintigraphy performed during routine metastatic screening may facilitate early detection of ATTRwt-CM, enabling timely diagnosis and treatment initiation, potentially improving clinical outcomes.
{"title":"Incidental Cardiac Uptake on <sup>99m</sup>Tc-HMDP Bone Scintigraphy in Oncology Patients: Two Cases of Transthyretin Amyloid Cardiomyopathy with Literature Review.","authors":"Naoya Matsuki, Toru Awaya, Jin Endo, Taeko Kunimasa, Tatsuya Gomi, Yasushi Okamoto, Hidehiko Hara","doi":"10.3390/diseases14010023","DOIUrl":"10.3390/diseases14010023","url":null,"abstract":"<p><strong>Background: </strong>Bone scintigraphy using technetium-99m hydroxymethylene diphosphonate (<sup>99m</sup>Tc-HMDP) is extensively employed to detect bone metastases. However, incidental myocardial uptake may indicate wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM), a frequently overlooked diagnosis with important clinical implications.</p><p><strong>Case presentation: </strong>Two elderly female patients with a history of breast cancer were subjected to <sup>99m</sup>Tc-HMDP bone scintigraphy as part of a routine evaluation for possible bone metastases. Both cases demonstrated incidental myocardial uptake (Perugini Grade 2 and Grade 3, respectively), raising suspicion for ATTRwt-CM, which was subsequently confirmed by endomyocardial biopsy.</p><p><strong>Review of the literature: </strong>We reviewed published studies reporting cardiac uptake on bone scintigraphy, summarizing the frequency, patient demographics, and tracer types, and emphasizing the clinical relevance of this finding in cancer patients.</p><p><strong>Conclusions: </strong>In oncology patients, bone scintigraphy performed during routine metastatic screening may facilitate early detection of ATTRwt-CM, enabling timely diagnosis and treatment initiation, potentially improving clinical outcomes.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12840220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146054991","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}
Pub Date : 2026-01-06DOI: 10.3390/diseases14010022
Imran Khan, Ariel Hendin, Bernadett Kovacs, Dominic Seguin, Caitlin Richler, Christine Landry, Pierre Thabet
Background: Neuromuscular blockade (NMB) is frequently used in moderate-to-severe acute respiratory distress syndrome (ARDS) to optimize ventilatory synchrony and minimize ventilator-induced lung injury. However, comparative real-world data on different NMB strategies remain limited.
Objective: To describe patterns of neuromuscular blockade use in ARDS and describe clinical outcomes across four NMB strategies: intermittent rocuronium, continuous cisatracurium, escalation from rocuronium to cisatracurium, and de-escalation from cisatracurium to rocuronium.
Methods: A retrospective chart review was conducted in an 18-bed tertiary ICU at Hôpital Montfort (Ottawa, Canada) between November 2021 and March 2025. Adult ARDS patients who received NMB for >24 h were included. Continuous variables (age, ventilation time, ICU stay) were summarized as means ± SD and median [IQR]; categorical variables (sex, ARDS etiology, mortality) as counts and percentages. Inferential testing was limited to baseline characteristics; clinical outcomes were summarized descriptively.
Results: Fifty-one patients met inclusion criteria: rocuronium (n = 20), cisatracurium (n = 14), rocuronium→cisatracurium (n = 8), and cisatracurium→rocuronium (n = 9). Mean ventilation durations were 280, 195, 272, and 262 h, respectively; corresponding ICU stays were 245, 237, 380, and 299 h. Mortality ranged from 25% to 56%. Escalation from rocuronium to cisatracurium typically reflected persistent dyssynchrony or worsening oxygenation, whereas de-escalation occurred in improving patients with residual ventilatory drive. Variability in corticosteroid use, adjunctive proning, and epoprostenol were potential confounders.
Conclusions: Distinct NMB use patterns in ARDS reflect bedside clinical judgment rather than predefined thresholds. Patient trajectory and dyssynchrony severity appear to drive NMBA escalation decisions more than oxygenation indices alone. These findings highlight the need for prospective studies defining standardized criteria for NMB initiation, escalation, and weaning in ARDS.
{"title":"Clinical Patterns of Rocuronium and Cisatracurium Use in Acute Respiratory Distress Syndrome: A Retrospective Cohort Study.","authors":"Imran Khan, Ariel Hendin, Bernadett Kovacs, Dominic Seguin, Caitlin Richler, Christine Landry, Pierre Thabet","doi":"10.3390/diseases14010022","DOIUrl":"10.3390/diseases14010022","url":null,"abstract":"<p><strong>Background: </strong>Neuromuscular blockade (NMB) is frequently used in moderate-to-severe acute respiratory distress syndrome (ARDS) to optimize ventilatory synchrony and minimize ventilator-induced lung injury. However, comparative real-world data on different NMB strategies remain limited.</p><p><strong>Objective: </strong>To describe patterns of neuromuscular blockade use in ARDS and describe clinical outcomes across four NMB strategies: intermittent rocuronium, continuous cisatracurium, escalation from rocuronium to cisatracurium, and de-escalation from cisatracurium to rocuronium.</p><p><strong>Methods: </strong>A retrospective chart review was conducted in an 18-bed tertiary ICU at Hôpital Montfort (Ottawa, Canada) between November 2021 and March 2025. Adult ARDS patients who received NMB for >24 h were included. Continuous variables (age, ventilation time, ICU stay) were summarized as means ± SD and median [IQR]; categorical variables (sex, ARDS etiology, mortality) as counts and percentages. Inferential testing was limited to baseline characteristics; clinical outcomes were summarized descriptively.</p><p><strong>Results: </strong>Fifty-one patients met inclusion criteria: rocuronium (<i>n</i> = 20), cisatracurium (<i>n</i> = 14), rocuronium→cisatracurium (<i>n</i> = 8), and cisatracurium→rocuronium (<i>n</i> = 9). Mean ventilation durations were 280, 195, 272, and 262 h, respectively; corresponding ICU stays were 245, 237, 380, and 299 h. Mortality ranged from 25% to 56%. Escalation from rocuronium to cisatracurium typically reflected persistent dyssynchrony or worsening oxygenation, whereas de-escalation occurred in improving patients with residual ventilatory drive. Variability in corticosteroid use, adjunctive proning, and epoprostenol were potential confounders.</p><p><strong>Conclusions: </strong>Distinct NMB use patterns in ARDS reflect bedside clinical judgment rather than predefined thresholds. Patient trajectory and dyssynchrony severity appear to drive NMBA escalation decisions more than oxygenation indices alone. These findings highlight the need for prospective studies defining standardized criteria for NMB initiation, escalation, and weaning in ARDS.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12839677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146054990","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}
Pub Date : 2026-01-06DOI: 10.3390/diseases14010021
Gomavarapu Krishna Subramanyam, Kundojjala Srinivas, Veera Venkata Raghunath Indugu, Dedeepya Sai Gondi, Sai Krishna Gaduputi Subbammagari
Background: Lung cancer screening using low-dose computed tomography (LDCT) demands not only early pulmonary nodule detection but also accurate estimation of malignancy risk. This remains challenging due to subtle nodule appearances, the large number of CT slices per scan, and variability in radiological interpretation. The objective of this study is to develop a unified computer-aided detection and diagnosis framework that improves both nodule localization and malignancy assessment while maintaining clinical reliability.
Methods: We propose Seg-CADe-CADx, a dual-stage deep learning framework that integrates segmentation-guided detection and malignancy classification. In the first stage, a segmentation-guided detector with a lightweight 2.5D refinement head is employed to enhance nodule localization accuracy, particularly for small nodules with diameters of 6 mm or less. In the second stage, a hybrid 3D DenseNet-Swin Transformer classifier is used for malignancy prediction, incorporating probability calibration to improve the reliability of risk estimates.
Results: The proposed framework was evaluated on established public benchmarks. On the LUNA16 dataset, the system achieved a competitive performance metric (CPM) of 0.944 for nodule detection. On the LIDC-IDRI dataset, the malignancy classification module achieved a ROC-AUC of 0.988, a PR-AUC of 0.947, and a specificity of 97.8% at 95% sensitivity. Calibration analysis further demonstrated strong agreement between predicted probabilities and true malignancy likelihoods, with an expected calibration error of 0.209 and a Brier score of 0.083.
Conclusions: The results demonstrate that hybrid segmentation-guided CNN-Transformer architectures can effectively improve both diagnostic accuracy and clinical reliability in lung cancer screening. By combining precise nodule localization with calibrated malignancy risk estimation, the proposed framework offers a promising tool for supporting radiologists in LDCT-based lung cancer assessment.
{"title":"Segmentation-Guided Hybrid Deep Learning for Pulmonary Nodule Detection and Risk Prediction from Multi-Cohort CT Images.","authors":"Gomavarapu Krishna Subramanyam, Kundojjala Srinivas, Veera Venkata Raghunath Indugu, Dedeepya Sai Gondi, Sai Krishna Gaduputi Subbammagari","doi":"10.3390/diseases14010021","DOIUrl":"10.3390/diseases14010021","url":null,"abstract":"<p><strong>Background: </strong>Lung cancer screening using low-dose computed tomography (LDCT) demands not only early pulmonary nodule detection but also accurate estimation of malignancy risk. This remains challenging due to subtle nodule appearances, the large number of CT slices per scan, and variability in radiological interpretation. The objective of this study is to develop a unified computer-aided detection and diagnosis framework that improves both nodule localization and malignancy assessment while maintaining clinical reliability.</p><p><strong>Methods: </strong>We propose Seg-CADe-CADx, a dual-stage deep learning framework that integrates segmentation-guided detection and malignancy classification. In the first stage, a segmentation-guided detector with a lightweight 2.5D refinement head is employed to enhance nodule localization accuracy, particularly for small nodules with diameters of 6 mm or less. In the second stage, a hybrid 3D DenseNet-Swin Transformer classifier is used for malignancy prediction, incorporating probability calibration to improve the reliability of risk estimates.</p><p><strong>Results: </strong>The proposed framework was evaluated on established public benchmarks. On the LUNA16 dataset, the system achieved a competitive performance metric (CPM) of 0.944 for nodule detection. On the LIDC-IDRI dataset, the malignancy classification module achieved a ROC-AUC of 0.988, a PR-AUC of 0.947, and a specificity of 97.8% at 95% sensitivity. Calibration analysis further demonstrated strong agreement between predicted probabilities and true malignancy likelihoods, with an expected calibration error of 0.209 and a Brier score of 0.083.</p><p><strong>Conclusions: </strong>The results demonstrate that hybrid segmentation-guided CNN-Transformer architectures can effectively improve both diagnostic accuracy and clinical reliability in lung cancer screening. By combining precise nodule localization with calibrated malignancy risk estimation, the proposed framework offers a promising tool for supporting radiologists in LDCT-based lung cancer assessment.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12840476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146055133","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}
Background and Objectives: On-line hemodiafiltration (OL-HDF) has been proposed as an alternative to conventional hemodialysis (HD) for patients with end-stage chronic kidney disease (CKD). Randomized controlled trials suggest that OL-HDF may reduce mortality, particularly when the convection volume (CV) exceeds 23 L/1.73 m2 per session. However, achieving this target depends on local practices and may be limited to selected populations. The CONVINCE trial reported a 97% success rate using a structured optimization protocol, but its applicability to unselected real-world populations remains uncertain. This study aimed to evaluate the incidence of high CV in OL-HDF among unselected patients managed under routine conditions with a standardized optimization protocol. Methods and Materials: This prospective cohort study (May-October 2024) included 67 unselected incident and prevalent patients undergoing HD or HDF in a hospital-based dialysis center. All patients were switched to post-dilution OL-HDF following the CONVINCE optimization protocol, which involved stepwise increases in blood flow, adjustment of filtration fraction, and optimization of session duration. Results: The mean age was 68.8 ± 14.9 years; 56.7% were male. Blood flow increased from 283 to 338 mL/min (p < 0.001), and the use of dialyzers > 2 m2 increased from 36% to 68% (p < 0.003). Kt/V improved from 1.22 to 1.6 (p < 0.01). CV increased by ~2 L from M1 onward and was sustained through M6, correlating positively with blood flow, session duration, and Kt/V (all p < 0.01). Conclusions: Stepwise optimization protocol enabled sustained achievement of high CV (23.5 L/session) in 62.3% of patients, improving dialysis adequacy.
{"title":"Optimization of the Convective Dose in On-Line Hemodiafiltration: Prospective Interventional Cohort Study-Conducted at Soissons Hospital, France.","authors":"Bedel Lukoki-Beudin, Tchilabalo Kakomkate, Wahiba Ibeghouchene, Céline Carreira, Imene Ouertani, Bruce Shinga Wembulua, Yannick Mayamba Nlandu, Yannick Mompango Engole, Marie-France Mboliasa Ingole, Augustin Luzayadio Longo, Francois Musungayi Kajingulu, Jean Robert Rissassy Makulo, Jean Bonny Nsumbu, Vieux Momeme Mokoli, Nazaire Mangani Nseka, Ernest Kiswaya Sumaili, John Bukasa-Kakamba, Hadrian Hoang-Vu Tran, Audrey Thu, Ayrton Bangolo, Izage Kianifar Aguilar, Simcha Weissman, Janette Mansour, Justine Busanga Bukabau","doi":"10.3390/diseases14010020","DOIUrl":"10.3390/diseases14010020","url":null,"abstract":"<p><p><b>Background and Objectives:</b> On-line hemodiafiltration (OL-HDF) has been proposed as an alternative to conventional hemodialysis (HD) for patients with end-stage chronic kidney disease (CKD). Randomized controlled trials suggest that OL-HDF may reduce mortality, particularly when the convection volume (CV) exceeds 23 L/1.73 m<sup>2</sup> per session. However, achieving this target depends on local practices and may be limited to selected populations. The CONVINCE trial reported a 97% success rate using a structured optimization protocol, but its applicability to unselected real-world populations remains uncertain. This study aimed to evaluate the incidence of high CV in OL-HDF among unselected patients managed under routine conditions with a standardized optimization protocol. <b>Methods and Materials:</b> This prospective cohort study (May-October 2024) included 67 unselected incident and prevalent patients undergoing HD or HDF in a hospital-based dialysis center. All patients were switched to post-dilution OL-HDF following the CONVINCE optimization protocol, which involved stepwise increases in blood flow, adjustment of filtration fraction, and optimization of session duration. <b>Results:</b> The mean age was 68.8 ± 14.9 years; 56.7% were male. Blood flow increased from 283 to 338 mL/min (<i>p</i> < 0.001), and the use of dialyzers > 2 m<sup>2</sup> increased from 36% to 68% (<i>p</i> < 0.003). Kt/V improved from 1.22 to 1.6 (<i>p</i> < 0.01). CV increased by ~2 L from M1 onward and was sustained through M6, correlating positively with blood flow, session duration, and Kt/V (all <i>p</i> < 0.01). <b>Conclusions:</b> Stepwise optimization protocol enabled sustained achievement of high CV (23.5 L/session) in 62.3% of patients, improving dialysis adequacy.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12840364/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146055143","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}
Background/Objectives: The Mediterranean diet (MD) constitutes one of the most broadly studied dietary patterns, which has been linked to the prevention of non-communicable diseases and mental health disorders. University students, a population exposed to significant psychosocial stressors and lifestyle changes, may particularly benefit from healthy eating patterns such as the MD. This study was designed to examine the potential associations of MD adherence with symptoms of depression and anxiety among Greek university students. Methods: A cross-sectional study was initially conducted among 7160 active university students from ten diverse geographic regions in Greece. After the enrollment procedure and the application of relevant exclusion criteria, 5191 university students (52.0% female; mean age: 21.3 ± 2.4 years) constituted the study population. MD adherence was assessed using the KIDMED index, while depressive and anxiety symptoms were evaluated using the Beck Depression Inventory-II (BDI-II) and State-Trait Anxiety Inventory (STAI-6), respectively. Sociodemographic and anthropometric data were collected for all the enrolled university students. All the questionnaires were completed by face-to-face interviews with expert personnel. Results: Students with low adherence to the MD were significantly more likely to report symptoms of depression (OR = 2.12; p ˂ 0.001) and anxiety (OR = 2.27; p ˂ 0.001) and to be overweight or obese (OR = 2.45; p ˂ 0.001) after adjustment for multiple confounding factors. Low MD adherence was also associated with male gender (OR = 0.73; p ˂ 0.01), living alone (OR = 0.78; p ˂ 0.01), smoking (OR = 0.75; p ˂ 0.01), low physical activity (OR = 1.84; p = 0.001), and poorer academic performance (OR = 0.83; p ˂ 0.01). Conclusions: Low adherence to the MD is significantly associated with increased likelihood of depression, anxiety, and excess body weight among university students in Greece. These findings underscore the importance of promoting healthy dietary habits and related lifestyle behaviors in young adult populations as a potential strategy for mental health prevention and intervention. Due to the presence of several limitations in the present study, future longitudinal and interventional studies should be performed to confirm the present findings.
{"title":"Mediterranean Diet Adherence Is Associated with Lower Prevalence of Depression and Anxiety in University Students: A Cross-Sectional Study in Greece.","authors":"Olga Alexatou, Gavriela Voulgaridou, Sousana K Papadopoulou, Constantina Jacovides, Aspasia Serdari, Georgia-Eirini Deligiannidou, Gerasimos Tsourouflis, Myrsini Pappa, Theophanis Vorvolakos, Constantinos Giaginis","doi":"10.3390/diseases14010019","DOIUrl":"10.3390/diseases14010019","url":null,"abstract":"<p><p><b>Background/Objectives</b>: The Mediterranean diet (MD) constitutes one of the most broadly studied dietary patterns, which has been linked to the prevention of non-communicable diseases and mental health disorders. University students, a population exposed to significant psychosocial stressors and lifestyle changes, may particularly benefit from healthy eating patterns such as the MD. This study was designed to examine the potential associations of MD adherence with symptoms of depression and anxiety among Greek university students. <b>Methods</b>: A cross-sectional study was initially conducted among 7160 active university students from ten diverse geographic regions in Greece. After the enrollment procedure and the application of relevant exclusion criteria, 5191 university students (52.0% female; mean age: 21.3 ± 2.4 years) constituted the study population. MD adherence was assessed using the KIDMED index, while depressive and anxiety symptoms were evaluated using the Beck Depression Inventory-II (BDI-II) and State-Trait Anxiety Inventory (STAI-6), respectively. Sociodemographic and anthropometric data were collected for all the enrolled university students. All the questionnaires were completed by face-to-face interviews with expert personnel. <b>Results</b>: Students with low adherence to the MD were significantly more likely to report symptoms of depression (OR = 2.12; <i>p</i> ˂ 0.001) and anxiety (OR = 2.27; <i>p</i> ˂ 0.001) and to be overweight or obese (OR = 2.45; <i>p</i> ˂ 0.001) after adjustment for multiple confounding factors. Low MD adherence was also associated with male gender (OR = 0.73; <i>p</i> ˂ 0.01), living alone (OR = 0.78; <i>p</i> ˂ 0.01), smoking (OR = 0.75; <i>p</i> ˂ 0.01), low physical activity (OR = 1.84; <i>p</i> = 0.001), and poorer academic performance (OR = 0.83; <i>p</i> ˂ 0.01). <b>Conclusions</b>: Low adherence to the MD is significantly associated with increased likelihood of depression, anxiety, and excess body weight among university students in Greece. These findings underscore the importance of promoting healthy dietary habits and related lifestyle behaviors in young adult populations as a potential strategy for mental health prevention and intervention. Due to the presence of several limitations in the present study, future longitudinal and interventional studies should be performed to confirm the present findings.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12839753/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146055123","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}
Background and Objectives: Metabolic syndrome (MetS) has been associated with reduced physical function in older adults, but the relative contributions of metabolic components, physiological responses, and functional performance to walking capacity remain unclear. Materials and Methods: This cross-sectional study included 116 community-dwelling adults aged ≥60 years (mean age 68.5 ± 5.5 years; 65.5% female). Walking capacity was evaluated using the six-minute walk test (6MWT) with associated physiological responses. Functional performance was assessed using the five-times-sit-to-stand test (FTSST), timed-up-and-go (TUG), and handgrip strength. Associations with six-minute walk distance (6MWD) were examined using hierarchical regression analyses, and discriminatory performance was evaluated using receiver operating characteristic analysis. Results: Participants with MetS demonstrated shorter 6MWD, slower FTSST and TUG performance, and higher dyspnea ratings compared to those without MetS (p < 0.05). Triglycerides were inversely associated with 6MWD in intermediate models (β = -0.33, p < 0.001), but after full adjustment, only ΔSBP (β = 0.76, p = 0.008) and FTSST (β = -24.45, p < 0.001) remained significant. The FTSST and TUG demonstrated excellent discriminatory ability, with AUC values of 0.956 (cut-off ≥ 15.5 s) and 0.925 (cut-off ≥ 13.7 s), respectively, whereas triglycerides showed moderate accuracy (AUC = 0.709) with a cut-off of ≥143 mg/dL. Conclusions: Walking capacity was more strongly associated with physiological and functional measures than with metabolic biomarkers. The FTSST and TUG showed strong discriminatory performance for low walking capacity, whereas metabolic markers provided complementary contextual information.
背景和目的:代谢综合征(MetS)与老年人身体功能下降有关,但代谢成分、生理反应和功能表现对行走能力的相对贡献尚不清楚。材料与方法:本横断面研究纳入116名≥60岁的社区居民(平均年龄68.5±5.5岁,女性65.5%)。步行能力评估采用6分钟步行测试(6MWT)与相关的生理反应。功能表现评估采用五次坐立测试(FTSST),计时起走(TUG)和握力。采用层次回归分析检验与6分钟步行距离(6MWD)的关系,并采用受试者工作特征分析评估歧视表现。结果:与没有MetS的参与者相比,MetS参与者表现出更短的6MWD,更慢的FTSST和TUG表现,以及更高的呼吸困难评分(p < 0.05)。在中间模型中,甘油三酯与6MWD呈负相关(β = -0.33, p < 0.001),但在完全调整后,只有ΔSBP (β = 0.76, p = 0.008)和FTSST (β = -24.45, p < 0.001)仍然显著。FTSST和TUG具有良好的鉴别能力,AUC分别为0.956(截止时间≥15.5 s)和0.925(截止时间≥13.7 s),而甘油三酯具有中等准确度(AUC = 0.709),截止时间≥143 mg/dL。结论:与代谢生物标志物相比,步行能力与生理和功能指标的相关性更强。FTSST和TUG对低步行能力表现出强烈的歧视性,而代谢标志物提供了互补的上下文信息。
{"title":"Associations Between Triglycerides and Walking Capacity in Community-Dwelling Older Adults with Metabolic Syndrome.","authors":"Chiraphat Kloypan, Tichanon Promsrisuk, Boonsita Suwannakul, Chonticha Kaewjoho, Arunrat Srithawong","doi":"10.3390/diseases14010018","DOIUrl":"10.3390/diseases14010018","url":null,"abstract":"<p><p><b>Background and Objectives</b>: Metabolic syndrome (MetS) has been associated with reduced physical function in older adults, but the relative contributions of metabolic components, physiological responses, and functional performance to walking capacity remain unclear. <b>Materials and Methods</b>: This cross-sectional study included 116 community-dwelling adults aged ≥60 years (mean age 68.5 ± 5.5 years; 65.5% female). Walking capacity was evaluated using the six-minute walk test (6MWT) with associated physiological responses. Functional performance was assessed using the five-times-sit-to-stand test (FTSST), timed-up-and-go (TUG), and handgrip strength. Associations with six-minute walk distance (6MWD) were examined using hierarchical regression analyses, and discriminatory performance was evaluated using receiver operating characteristic analysis. <b>Results</b>: Participants with MetS demonstrated shorter 6MWD, slower FTSST and TUG performance, and higher dyspnea ratings compared to those without MetS (<i>p</i> < 0.05). Triglycerides were inversely associated with 6MWD in intermediate models (β = -0.33, <i>p</i> < 0.001), but after full adjustment, only ΔSBP (β = 0.76, <i>p</i> = 0.008) and FTSST (β = -24.45, <i>p</i> < 0.001) remained significant. The FTSST and TUG demonstrated excellent discriminatory ability, with AUC values of 0.956 (cut-off ≥ 15.5 s) and 0.925 (cut-off ≥ 13.7 s), respectively, whereas triglycerides showed moderate accuracy (AUC = 0.709) with a cut-off of ≥143 mg/dL. <b>Conclusions</b>: Walking capacity was more strongly associated with physiological and functional measures than with metabolic biomarkers. The FTSST and TUG showed strong discriminatory performance for low walking capacity, whereas metabolic markers provided complementary contextual information.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12839763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146054977","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}
Pub Date : 2026-01-02DOI: 10.3390/diseases14010017
Hanan S Elsarraj, Karsten Evans, Sydney Graham, Shivani Golem
Background/objectives: Acute promyelocytic leukemia (APL) is a medical emergency associated with life-threatening complications such as disseminated intravascular coagulation (DIC), necessitating prompt therapeutic intervention and rapid diagnostic confirmation. APL is characterized by a translocation of the PML gene (15q24) with the RARA gene (17q21), resulting in the PML::RARA fusion gene on the derivative chromosome 15. Atypical PML::RARA rearrangements may escape detection by standard FISH probes. This study highlights limitations of commonly used probe sets and underscores the need for alternative FISH probe sets and complementary molecular testing.
Methods: Two unique APL cases with atypical PML::RARA rearrangements were identified in our laboratory. Each case was evaluated at diagnosis using two commercially available FISH probe sets from Abbott Molecular and Cytocell. Metaphase FISH was performed to characterize the atypical FISH signal pattern further, and qRT-PCR was used to confirm the presence of the PML::RARA transcript.
Results: Both cases demonstrated atypical rearrangements with a single fusion signal. In the first case, the Abbott probe detected a single fusion signal, while the Cytocell probe was negative. Metaphase FISH revealed an insertion of the PML region near RARA on chromosome 17. In the second case, the Cytocell probe was positive, and the Abbott probe was negative; metaphase FISH demonstrated insertion of the RARA region near PML on chromosome 15. qRT-PCR confirmed the presence of the PML::RARA transcript in both cases.
Conclusions: These findings reveal limitations in commonly used PML::RARA FISH probes and support reflex testing with alternative probes and molecular confirmation to ensure accurate diagnosis.
{"title":"Discrepancies in the Detection of <i>PML::RARA</i> Gene Rearrangement by Fluorescent In Situ Hybridization Using Commonly Used Dual Color Dual Fusion Probes.","authors":"Hanan S Elsarraj, Karsten Evans, Sydney Graham, Shivani Golem","doi":"10.3390/diseases14010017","DOIUrl":"10.3390/diseases14010017","url":null,"abstract":"<p><strong>Background/objectives: </strong>Acute promyelocytic leukemia (APL) is a medical emergency associated with life-threatening complications such as disseminated intravascular coagulation (DIC), necessitating prompt therapeutic intervention and rapid diagnostic confirmation. APL is characterized by a translocation of the <i>PML</i> gene (15q24) with the <i>RARA</i> gene (17q21), resulting in the <i>PML::RARA</i> fusion gene on the derivative chromosome 15. Atypical <i>PML::RARA</i> rearrangements may escape detection by standard FISH probes. This study highlights limitations of commonly used probe sets and underscores the need for alternative FISH probe sets and complementary molecular testing.</p><p><strong>Methods: </strong>Two unique APL cases with atypical <i>PML::RARA</i> rearrangements were identified in our laboratory. Each case was evaluated at diagnosis using two commercially available FISH probe sets from Abbott Molecular and Cytocell. Metaphase FISH was performed to characterize the atypical FISH signal pattern further, and qRT-PCR was used to confirm the presence of the <i>PML::RARA</i> transcript.</p><p><strong>Results: </strong>Both cases demonstrated atypical rearrangements with a single fusion signal. In the first case, the Abbott probe detected a single fusion signal, while the Cytocell probe was negative. Metaphase FISH revealed an insertion of the <i>PML</i> region near <i>RARA</i> on chromosome 17. In the second case, the Cytocell probe was positive, and the Abbott probe was negative; metaphase FISH demonstrated insertion of the <i>RARA</i> region near <i>PML</i> on chromosome 15. qRT-PCR confirmed the presence of the <i>PML::RARA</i> transcript in both cases.</p><p><strong>Conclusions: </strong>These findings reveal limitations in commonly used <i>PML::RARA</i> FISH probes and support reflex testing with alternative probes and molecular confirmation to ensure accurate diagnosis.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":"14 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12840009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146054986","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}