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Search Results (3,664)

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Keywords = abnormality detection

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19 pages, 3295 KiB  
Review
SNHG1: Redefining the Landscape of Hepatocellular Carcinoma through Long Noncoding RNAs
by Tiago S. Fonseca, Rui Miguel Martins, Anabela P. Rolo and Carlos M. Palmeira
Biomedicines 2024, 12(8), 1696; https://doi.org/10.3390/biomedicines12081696 - 30 Jul 2024
Abstract
Hepatocellular carcinoma (HCC) represents a global health concern, ranking as the sixth most common malignancy worldwide and the third leading cause of cancer-related mortality. Despite advances in research, the diagnosis and prognosis of such malignancy remain challenging. Alpha-fetoprotein, the current serum biomarker used [...] Read more.
Hepatocellular carcinoma (HCC) represents a global health concern, ranking as the sixth most common malignancy worldwide and the third leading cause of cancer-related mortality. Despite advances in research, the diagnosis and prognosis of such malignancy remain challenging. Alpha-fetoprotein, the current serum biomarker used in the management of HCC, has limited sensitivity and specificity, making early detection and effective management more difficult. Thus, new management approaches in diagnosis and prognosis are needed to improve the outcome and survival of HCC patients. SNHG1 is a long noncoding RNA mainly expressed in the cell and cytoplasm of cells and is consistently upregulated in tissues and cell lines of HCC, where it acts as an important regulator of various processes: modulation of p53 activity, sponging of microRNAs with consequent upregulation of their target mRNAs, regulation of fatty acid, iron and glucose metabolism, and interaction with immune cells. The deregulation of these processes results in abnormal cell division, angiogenesis, and apoptosis, thus promoting various aspects of tumorigenesis, including proliferation, invasion, and migration of cells. Clinically, a higher expression of SNHG1 predicts poorer clinical outcomes by significantly correlating with bigger, less differentiated, and more aggressive tumors, more advanced disease stages, and lower overall survival in HCC patients. This article comprehensively summarizes the current understanding of the multifaceted roles of SNHG1 in the pathogenesis of HCC, while also highlighting its clinicopathological correlations, therefore concluding that it has potential as a biomarker in HCC diagnosis and prognosis. Full article
(This article belongs to the Section Cancer Biology and Oncology)
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24 pages, 880 KiB  
Review
An Emerging Role of Long Noncoding RNAs as Novel Biomarkers for Breast Cancer Metastasis
by Kamila Derlatka, Marika Kulczycka, Monika Prendecka-Wróbel, Iwona Homa-Mlak and Teresa Małecka-Massalska
Appl. Sci. 2024, 14(15), 6667; https://doi.org/10.3390/app14156667 - 30 Jul 2024
Abstract
Breast cancer is a leading cause of cancer-related deaths among women both worldwide and in Poland. Consequently, ensuring equitable access to diagnostic tests for all populations is crucial, alongside the urgent need to develop new, minimally invasive methods for early cancer detection with [...] Read more.
Breast cancer is a leading cause of cancer-related deaths among women both worldwide and in Poland. Consequently, ensuring equitable access to diagnostic tests for all populations is crucial, alongside the urgent need to develop new, minimally invasive methods for early cancer detection with a particular focus on metastasis. Long noncoding RNAs (lncRNAs) have emerged as critical regulators of cancer metastasis. This review aims to investigate the potential of lncRNAs as novel biomarkers for breast cancer, focusing on their mechanisms, clinical relevance, and therapeutic implications. A comprehensive literature search was conducted using PubMed and Google Scholar databases, targeting publications from 2013 to 2024. Keywords included “lncRNA”, “biomarker”, “breast cancer”, “metastasis”, “prognosis”, and “diagnosis”. A total of 111 articles were selected based on their relevance and quality. Recent studies have identified numerous lncRNAs such as HOTAIR, MALAT1, BANCR, NEAT1, H19, and GAS5 as key regulators of various metastatic processes in breast cancer. They can be both upregulated and downregulated. Clinical studies have shown that abnormal lncRNA expression correlates with poor prognosis, higher metastatic potential, and therapy resistance in breast cancer patients. LncRNAs have significant potential as novel biomarkers for breast cancer metastasis because of their regulatory roles in metastasis-related processes and detectability in body fluids. Further research is essential to validate these findings in larger clinical studies and to develop lncRNA-based diagnostic and therapeutic tools, ultimately improving patient outcomes in breast cancer. Full article
17 pages, 5228 KiB  
Article
A Host–Guest Platform for Highly Efficient, Quantitative, and Rapid Detection of Nitroreductase
by Wen Si, Yang Jiao, Xianchao Jia, Meng Gao, Yihao Zhang, Ye Gao, Lei Zhang and Chunying Duan
Chemosensors 2024, 12(8), 145; https://doi.org/10.3390/chemosensors12080145 - 30 Jul 2024
Abstract
Nitroreductase (NTR) is an enzyme expressed at an abnormally high level in solid tumors, which is associated with the hypoxia level in tumors. The establishment of a high-performance and convenient fluorescent platform for the fast monitoring of NTR is of pivotal importance. Herein, [...] Read more.
Nitroreductase (NTR) is an enzyme expressed at an abnormally high level in solid tumors, which is associated with the hypoxia level in tumors. The establishment of a high-performance and convenient fluorescent platform for the fast monitoring of NTR is of pivotal importance. Herein, a novel host–guest complex was created by encapsulating a fluorescent substrate GP-NTR within a metal–organic capsule Zn-MPB that included a NADH mimic for the detection of hypoxia via responding to nitroreductase (NTR) with fast responsiveness and good fluorescence imaging. Notably, the double-substrate process was streamlined to a single–substrate process by the host–guest supramolecular method in the catalytic process of NTR, which enabled the reaction to be independent of the cofactor NADH supply and shortened the distance between the substrate and the active site of NTR. The increasing fluorescence intensity of Zn-MPB⊃GP-NTR exhibits a linear relationship with NTR concentration and shows a fast response toward NTR in solution in tens of seconds. Zn-MPB⊃GP-NTR also displays high sensitivity to NTR with a low detection limit of 6.4 ng/mL. Cells and in vivo studies have confirmed that Zn-MPB⊃GP-NTR could be successfully applied for the fast imaging of NTR in NTR-overexpressed tumor cells and tumor-bearing animals. The host–guest platform not only provides a new avenue for the design and optimization of a fluorescence detection platform for the rapid and quantitative detection of NTR activity, but also offers an imaging tool for the early diagnosis of hypoxia-related tumors. Full article
(This article belongs to the Special Issue Chemical and Biosensors Based on Metal-Organic Frames (MOFs))
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12 pages, 1016 KiB  
Article
Prospective Study of Non-Contrast, Abbreviated MRI for Hepatocellular Carcinoma Surveillance in Patients with Suboptimal Hepatic Visualisation on Ultrasound
by Mathew Vithayathil, Maria Qurashi, Pedro Rente Vicente, Ali Alsafi, Mitesh Naik, Alison Graham, Shahid Khan, Heather Lewis, Ameet Dhar, Belinda Smith, Nowlan Selvapatt, Pinelopi Manousou, Lucia Possamai, Hooshang Izadi, Adrian Lim, Paul Tait and Rohini Sharma
Cancers 2024, 16(15), 2709; https://doi.org/10.3390/cancers16152709 - 30 Jul 2024
Abstract
Background: Biannual ultrasound (US) is recommended for hepatocellular carcinoma (HCC) surveillance in patients with cirrhosis. However, US has limited sensitivity for early-stage HCC, particularly in overweight cohorts, where hepatic visualisation is often inadequate. Currently there are no robust imaging surveillance strategies in patients [...] Read more.
Background: Biannual ultrasound (US) is recommended for hepatocellular carcinoma (HCC) surveillance in patients with cirrhosis. However, US has limited sensitivity for early-stage HCC, particularly in overweight cohorts, where hepatic visualisation is often inadequate. Currently there are no robust imaging surveillance strategies in patients with inadequate US visualisation. We investigated the ability of non-contrast, abbreviated magnetic resonance imaging (aMRI) to adequately visualise the liver for HCC surveillance in patients with previously inadequate US. Methods: Patients undergoing US surveillance, where liver visualisation was inadequate (LI-RADS VIS-B and VIS-C), were prospectively recruited. Patients underwent non-contrast T2-weighted and diffusion-weighted aMRI. The images were reviewed and reported by an expert liver radiologist. Three independent, blinded radiologists assessed the aMRI visualisation quality using a binary score assessing five parameters (parenchymal definition, vascular definition, coverage of the liver, uniformity of liver appearance and signal-to-noise ratio). Results: Thirty patients completed the aMRI protocol. The majority (90%) had underlying cirrhosis and were overweight (93.3%), with 50% obese and 20% severely obese. A total of 93.3% of the aMRI scans were of satisfactory quality. Six patients (20%) had hepatic abnormalities detected with aMRI that were not seen on their US: one HCC, one haemangioma and three clinically insignificant lesions. For the aMRI visualisation quality assessment, the coverage of the liver, vascular definition and parenchymal definition were consistently rated to be of sufficient quality by all three radiologists. Conclusions: Non-contrast aMRI provided good visualisation of the liver and detection of abnormalities in patients with inadequate US. aMRI should be further explored in a larger, prospective study as an alternative surveillance strategy in patients with inadequate US. Full article
(This article belongs to the Collection Targeting Solid Tumors)
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14 pages, 263 KiB  
Review
Review of the Adverse Effects Associated with Dermal Filler Treatments: Part I Nodules, Granuloma, and Migration
by Gi-Woong Hong, Hyewon Hu, Kathleen Chang, Youngjin Park, Kar Wai Alvin Lee, Lisa Kwin Wah Chan and Kyu-Ho Yi
Diagnostics 2024, 14(15), 1640; https://doi.org/10.3390/diagnostics14151640 - 30 Jul 2024
Abstract
The increase in the use of filler treatments within minimally invasive cosmetic surgery has correspondingly escalated the variety and frequency of associated side effects. Initially, unregulated procedures led to primary side effects such as infections, foreign body reactions, and granuloma formation. However, severe [...] Read more.
The increase in the use of filler treatments within minimally invasive cosmetic surgery has correspondingly escalated the variety and frequency of associated side effects. Initially, unregulated procedures led to primary side effects such as infections, foreign body reactions, and granuloma formation. However, severe vascular complications like skin and tissue necrosis and blindness have emerged as recognized risks. Side effects from filler treatments can range from mild to life-threatening, including edema, pain, tenderness, numbness, bleeding, bruising, hematoma, redness, erythema, pigmentation, allergic reactions, itching, pruritus, the Tyndall effect, asymmetry, irregularity, migration, skin and soft tissue infections, nodules, granulomas, and vascular compromise. These side effects are categorized into early and delayed types. Many complications, particularly those related to vascular abnormalities, are frequently linked to procedural issues, emphasizing the importance of understanding filler properties, injection techniques, and facial anatomy. Preventing side effects is ideal, but early detection and treatment are crucial. Recognizing potential side effects based on their timing and understanding appropriate preemptive treatment methods is essential. This discussion addresses non-vascular side effects, highlighting their onset, symptoms, and management strategies. The comprehensive understanding and careful management of these side effects are vital for minimizing complications and ensuring patient safety in filler treatments. Full article
(This article belongs to the Special Issue Advances in Anatomy—Third Edition)
11 pages, 4198 KiB  
Article
Increasing Endoglin Deletion in Endothelial Cells Exacerbates the Severity of Brain Arteriovenous Malformation in Mouse
by Zahra Shabani, Leandro Barbosa Do Prado, Rui Zhang, Wan Zhu, Sonali S. Shaligram, Alka Yadav, Calvin Wang and Hua Su
Biomedicines 2024, 12(8), 1691; https://doi.org/10.3390/biomedicines12081691 - 30 Jul 2024
Abstract
Endoglin (ENG) mutation causes type 1 hereditary hemorrhagic telangiectasia (HHT1). HHT1 patients have arteriovenous malformations (AVMs) in multiple organs, including the brain. In mice, Eng deletion induced by R26RCreER or SM22αCre leads to AVM development in the brain and other organs. [...] Read more.
Endoglin (ENG) mutation causes type 1 hereditary hemorrhagic telangiectasia (HHT1). HHT1 patients have arteriovenous malformations (AVMs) in multiple organs, including the brain. In mice, Eng deletion induced by R26RCreER or SM22αCre leads to AVM development in the brain and other organs. We hypothesized that an increase in Eng- negative ECs will enhance AVM severity. To increase EC Eng deletion, we used a codon-improved cre (icre), which is more potent in recombination of the floxed alleles than the wild-type (WT) cre. R26RCreER;Engf/f mice that have a Rosa promoter driving and tamoxifen (TM)-inducible WT cre expression globally, and PdgfbiCreER;Engf/f mice that have a Pdgfb promoter driving and TM-inducible icre expression in ECs were treated with three intra-peritoneal injections of TM (2.5 mg/25 g of body weight) to delete Eng globally or in the ECs. AAV-VEGF was stereotactically injected into the brain to induce brain focal angiogenesis and brain AVM. We found that icre caused more Eng deletion in the brain, indicated by a lower level of Eng proteins (p < 0.001) and fewer Eng-positive ECs (p = 0.01) than mice with WT cre. Mice with icre-mediated Eng deletion have more abnormal vessels (p = 0.02), CD68+ macrophages (p = 0.002), and hemorrhage (p = 0.04) and less vascular pericyte and smooth muscle coverage than mice with WT cre. In addition, arteriovenous shunts were detected in the intestines of icre mice, a phenotype that has not been detected in WT cre mice before. RNA-seq analysis showed that 8 out of the 10 top upregulated pathways identified by gene ontology (GO) analysis are related to inflammation. Therefore, the increase in Eng deletion in ECs exacerbates AVM severity, which is associated with enhanced inflammation. Strategies that can reduce Eng-negative ECs could be used to develop new therapies to reduce AVM severity for HHT1 patients. Full article
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9 pages, 910 KiB  
Article
Screening Accuracy for Developmental Dysplasia of the Hip by Child Health Nurses
by Larissa Smart, William Cundy, Nicole Williams, Abigail Arnold, Jessie Childs, Lemuel Pelentsov and Adrian Esterman
Children 2024, 11(8), 915; https://doi.org/10.3390/children11080915 (registering DOI) - 29 Jul 2024
Viewed by 206
Abstract
Background: Developmental Dysplasia of the Hip (DDH) describes a spectrum of abnormalities that impact the normal function of the joint. These abnormalities are detectable during infancy using physical assessment, universal ultrasound, or a combination of both. In Australia, child health nurses predominantly screen [...] Read more.
Background: Developmental Dysplasia of the Hip (DDH) describes a spectrum of abnormalities that impact the normal function of the joint. These abnormalities are detectable during infancy using physical assessment, universal ultrasound, or a combination of both. In Australia, child health nurses predominantly screen for this disease using physical assessment. The aim of this study was to determine if child health nurses can accurately screen for DDH using physical assessment. Methods: This Australian study estimated the accuracy and utility of child health nurses using physical assessment to screen for DDH by comparing it to a handheld ultrasound device. Results: This study (N = 44) concluded that using a point prevalence study design, child health nurses in Australia are unable to accurately assess for DDH in infants using physical assessment; overall, clinicians had 50.5% sensitivity (95% CI, 15.7 to 84.3), a specificity of 75.0% (95% CI, 57.8 to 87.9), and 71.3% accuracy (95% CI, 55.6 to 83.9). Conclusion: This study suggests that child health nurses cannot screen for DDH using physical assessment. Understanding education, experience and what assessments are used suggests that the utility of nurses performing DDH screening requires further investigation. Full article
(This article belongs to the Section Pediatric Orthopedics & Sports Medicine)
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13 pages, 2243 KiB  
Article
The Association of Chronic Pulmonary Aspergillosis and Chronic Pulmonary Histoplasmosis with MDR-TB Patients in Indonesia
by Noni N. Soeroso, Lambok Siahaan, Selfi Khairunnisa, Raden Ajeng Henny Anggriani, Aida Aida, Putri C. Eyanoer, Elvita R. Daulay, Erlina Burhan, Anna Rozaliyani, Ronny Ronny, Robiatul Adawiyah, David W. Denning and Retno Wahyuningsih
J. Fungi 2024, 10(8), 529; https://doi.org/10.3390/jof10080529 - 29 Jul 2024
Viewed by 315
Abstract
In Indonesia, 2.4% of all new tuberculosis patients had multi-drug resistant disease (MDR-TB); an estimated 24,000 incidences. Historical case series of MDR-TB described a high frequency of cavitation and poor prognosis. The diagnosis of chronic pulmonary aspergillosis (CPA) relies on raised levels of [...] Read more.
In Indonesia, 2.4% of all new tuberculosis patients had multi-drug resistant disease (MDR-TB); an estimated 24,000 incidences. Historical case series of MDR-TB described a high frequency of cavitation and poor prognosis. The diagnosis of chronic pulmonary aspergillosis (CPA) relies on raised levels of Aspergillus IgG antibodies, and detectable Histoplasma IgG antibodies are suspicious for chronic pulmonary histoplasmosis (CPH). We investigated whether MDR-TB patients might have concurrent CPH or CPA. This was a cross-sectional study with 50 MDR-TB patients. ELISA was used to detect Histoplasma IgG antibodies and lateral flow assay was used to detect Aspergillus IgG/IgM antibodies. Several other possible disease determinants were assessed by multivariate analysis. Of the 50 MDR-TB patients, 14 (28%) and 16 (32%) had positive Histoplasma or Aspergillus serology; six patients (12%) had dual antibody reactivity. Radiological abnormalities in positive patients included diffuse or local infiltrates, nodules, consolidation, and apical cavities, consistent with CPH and CPA. Patients with detectable fungal antibodies tended to have worse disease, and 4 of 26 (15.3%) died in the first 5 months of dual infection (p = 0.11 compared with no deaths in those with only MDR-TB). The criteria for the diagnosis of CPH and CPA were fulfilled in those with moderately and far advanced disease (13 of 14 or 93%) and 12 of 16 (75%), respectively. Damp housing was the only determinant associated with Histoplasma antibodies (PR 2.01; 95%CI 0.56–7.19), while pets were associated with the Aspergillus antibody (PR 18.024; 95%CI 1.594–203.744). CPA or CPH are probably frequent in MDR-TB patients in Indonesia and may carry a worse prognosis. Full article
(This article belongs to the Special Issue Epidemiology of Invasive Mycosis in the Hospital)
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20 pages, 3600 KiB  
Article
Machine-Learning-Based Anomaly Detection for GOOSE in Digital Substations
by Hong Nhung-Nguyen, Mansi Girdhar, Yong-Hwa Kim and Junho Hong
Energies 2024, 17(15), 3745; https://doi.org/10.3390/en17153745 - 29 Jul 2024
Viewed by 336
Abstract
Digital substations have adopted a high amount of information and communication technology (ICT) and cyber–physical systems (CPSs) for monitoring and control. As a result, cyber attacks on substations have been increasing and have become a major concern. An intrusion-detection system (IDS) could be [...] Read more.
Digital substations have adopted a high amount of information and communication technology (ICT) and cyber–physical systems (CPSs) for monitoring and control. As a result, cyber attacks on substations have been increasing and have become a major concern. An intrusion-detection system (IDS) could be a solution to detect and identify the abnormal behaviors of hackers. In this paper, a Deep Neural Network (DNN)-based IDS is proposed to detect malicious generic object-oriented substation event (GOOSE) communication over the process and station bus network, followed by the multiclassification of the cyber attacks. For training, both the abnormal and the normal substation networks are monitored, captured, and logged, and then the proposed algorithm is applied for distinguishing normal events from abnormal ones within the network communication packets. The designed system is implemented and tested with a real-time IEC 61850 GOOSE message dataset using two different approaches. The experimental results show that the proposed system can successfully detect intrusions with an accuracy of 98%. In addition, a comparison is performed in which the proposed IDS outperforms the support vector machine (SVM)-based IDS. Full article
(This article belongs to the Section F: Electrical Engineering)
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20 pages, 4991 KiB  
Article
An Innovative Thermal Imaging Prototype for Precise Breast Cancer Detection: Integrating Compression Techniques and Classification Methods
by Khaled S. Ahmed, Fayroz F. Sherif, Mohamed S. Abdallah, Young-Im Cho and Shereen M. ElMetwally
Bioengineering 2024, 11(8), 764; https://doi.org/10.3390/bioengineering11080764 - 29 Jul 2024
Viewed by 173
Abstract
Breast cancer detection at an early stage is crucial for improving patient survival rates. This work introduces an innovative thermal imaging prototype that incorporates compression techniques inspired by mammography equipment. The prototype offers a radiation-free and precise cancer diagnosis. By integrating compression and [...] Read more.
Breast cancer detection at an early stage is crucial for improving patient survival rates. This work introduces an innovative thermal imaging prototype that incorporates compression techniques inspired by mammography equipment. The prototype offers a radiation-free and precise cancer diagnosis. By integrating compression and illumination methods, thermal picture quality has increased, and the accuracy of classification has improved. Essential components of the suggested thermography device include an equipment body, plates, motors, pressure sensors, light sources, and a thermal camera. We created a 3D model of the gadget using the SolidWorks software 2020 package. Furthermore, the classification research employed both cancer and normal images from the experimental results to validate the efficacy of the suggested system. We employed preprocessing and segmentation methods on the obtained dataset. We successfully categorized the thermal pictures using various classifiers and examined their performance. The logistic regression model showed excellent performance, achieving an accuracy of 0.976, F1 score of 0.977, precision of 1.000, and recall of 0.995. This indicates a high level of accuracy in correctly classifying thermal abnormalities associated with breast cancer. The proposed prototype serves as a highly effective tool for conducting initial investigations into breast cancer detection, offering potential advancements in early-stage diagnosis, and improving patient survival rates. Full article
(This article belongs to the Special Issue Advances in Breast Cancer Imaging)
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25 pages, 8213 KiB  
Article
Automatic Perception of Typical Abnormal Situations in Cage-Reared Ducks Using Computer Vision
by Shida Zhao, Zongchun Bai, Lianfei Huo, Guofeng Han, Enze Duan, Dongjun Gong and Liaoyuan Gao
Animals 2024, 14(15), 2192; https://doi.org/10.3390/ani14152192 - 27 Jul 2024
Viewed by 172
Abstract
Overturning and death are common abnormalities in cage-reared ducks. To achieve timely and accurate detection, this study focused on 10-day-old cage-reared ducks, which are prone to these conditions, and established prior data on such situations. Using the original YOLOv8 as the base network, [...] Read more.
Overturning and death are common abnormalities in cage-reared ducks. To achieve timely and accurate detection, this study focused on 10-day-old cage-reared ducks, which are prone to these conditions, and established prior data on such situations. Using the original YOLOv8 as the base network, multiple GAM attention mechanisms were embedded into the feature fusion part (neck) to enhance the network’s focus on the abnormal regions in images of cage-reared ducks. Additionally, the Wise-IoU loss function replaced the CIoU loss function by employing a dynamic non-monotonic focusing mechanism to balance the data samples and mitigate excessive penalties from geometric parameters in the model. The image brightness was adjusted by factors of 0.85 and 1.25, and mainstream object-detection algorithms were adopted to test and compare the generalization and performance of the proposed method. Based on six key points around the head, beak, chest, tail, left foot, and right foot of cage-reared ducks, the body structure of the abnormal ducks was refined. Accurate estimation of the overturning and dead postures was achieved using the HRNet-48. The results demonstrated that the proposed method accurately recognized these states, achieving a mean Average Precision (mAP) value of 0.924, which was 1.65% higher than that of the original YOLOv8. The method effectively addressed the recognition interference caused by lighting differences, and exhibited an excellent generalization ability and comprehensive detection performance. Furthermore, the proposed abnormal cage-reared duck pose-estimation model achieved an Object Key point Similarity (OKS) value of 0.921, with a single-frame processing time of 0.528 s, accurately detecting multiple key points of the abnormal cage-reared duck bodies and generating correct posture expressions. Full article
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12 pages, 3068 KiB  
Case Report
Medullary Thyroid Carcinoma in Patients with Graves’ Disease—A Case Series and Literature Review
by Oana Popa, Melania Balaș, Ioana Golu, Daniela Amzăr, Flore Varcuș, Mărioara Cornianu, Mihaela Iacob, Valentin-Tudor Popa and Mihaela Vlad
J. Clin. Med. 2024, 13(15), 4391; https://doi.org/10.3390/jcm13154391 - 27 Jul 2024
Viewed by 289
Abstract
Introduction: Graves’ disease (GD) is an autoimmune disorder affecting the thyroid gland, leading to systemic manifestations such as hyperthyroidism, Graves’ orbitopathy, and pretibial myxedema. Contrary to previous beliefs that hyperthyroidism protects against thyroid cancer, recent studies reveal an increased incidence of thyroid malignancies [...] Read more.
Introduction: Graves’ disease (GD) is an autoimmune disorder affecting the thyroid gland, leading to systemic manifestations such as hyperthyroidism, Graves’ orbitopathy, and pretibial myxedema. Contrary to previous beliefs that hyperthyroidism protects against thyroid cancer, recent studies reveal an increased incidence of thyroid malignancies in GD patients, particularly differentiated thyroid carcinomas and, in rare cases, medullary thyroid carcinoma (MTC). Case series: This case series presents three female GD patients diagnosed with MTC, highlighting the complexities of diagnosis and management. All patients exhibited thyroid nodules with suspicious ultrasonographic features, elevated plasma calcitonin levels, and required total thyroidectomy. Histological examination confirmed MTC. Discussion: These cases underscore the importance of routine calcitonin screening in GD patients with thyroid nodules to facilitate early detection and improve prognosis. Our findings suggest that while the coexistence of GD and MTC is likely incidental, vigilant monitoring and comprehensive evaluation are crucial for timely intervention. Conclusions: This study advocates for integrating calcitonin testing into the standard diagnostic protocol for GD patients presenting with thyroid abnormalities. Full article
(This article belongs to the Section Endocrinology & Metabolism)
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19 pages, 5332 KiB  
Article
Wolbachia Transinfection and Effect on the Biological Traits of Matsumuratettix hiroglyphicus (Matsumura), the Leafhopper Vector of Sugarcane White Leaf Disease
by Kamonrat Suwanchaisri, Jariya Roddee and Jureemart Wangkeeree
Agriculture 2024, 14(8), 1236; https://doi.org/10.3390/agriculture14081236 - 26 Jul 2024
Viewed by 280
Abstract
The bacterial genus Wolbachia induces reproductive abnormalities in its insect host, including cytoplasmic incompatibility (CI), which causes embryonic death in the crossing of infected males and uninfected females. Hence, Wolbachia-based strategies are employed to control insect pests. However, Wolbachia does not naturally [...] Read more.
The bacterial genus Wolbachia induces reproductive abnormalities in its insect host, including cytoplasmic incompatibility (CI), which causes embryonic death in the crossing of infected males and uninfected females. Hence, Wolbachia-based strategies are employed to control insect pests. However, Wolbachia does not naturally infect Matsumuratettix hiroglyphicus (Matsumura), the main vector of the phytoplasma causing the sugarcane white leaf (SCWL) disease. In this study, the wYfla Wolbachia strain, which induces strong CI in its original host, was microinjected into nymphs of M. hiroglyphicus. Molecular detection revealed that Wolbachia was successfully transinfected into the recipient host, with an infection frequency of 55–80% in up to eight generations after transinfection. Wolbachia exhibited no significant detrimental effects on the developmental time of the immature stages, adult emergences, and female longevity, whereas the lifespan of transinfected males was decreased. Reciprocal crossing revealed that Wolbachia infection did not affect the number of eggs laid per female. However, the hatching rate produced by the pairs between the transinfected males and naturally uninfected females significantly decreased. The evidence of Wolbachia transmitted through the generations tested and partial CI occurrence in transinfected M. hiroglyphicus highlights the possibility of the future development of Wolbachia-based strategies for controlling the vector of SCWL. Full article
(This article belongs to the Section Crop Protection, Diseases, Pests and Weeds)
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17 pages, 414 KiB  
Article
Multi-Class Hypersphere Anomaly Detection Based on Edge Outlier Exposure Set and Margin
by Min Gao, Xuan Liu, Di Xu and Guowei Yang
Mathematics 2024, 12(15), 2340; https://doi.org/10.3390/math12152340 - 26 Jul 2024
Viewed by 236
Abstract
Currently, the decision boundary of the multi-class anomaly detection algorithm based on deep learning does not sufficiently capture the positive class region, posing a risk of abnormal sample features falling into the domain of normal sample features and potentially leading to misleading outcomes [...] Read more.
Currently, the decision boundary of the multi-class anomaly detection algorithm based on deep learning does not sufficiently capture the positive class region, posing a risk of abnormal sample features falling into the domain of normal sample features and potentially leading to misleading outcomes in practical applications. In response to the above problems, this paper proposes a new method called multi-class hypersphere anomaly detection (MMHAD) based on the edge outlier exposure set and margin. The method aims to utilize convolutional neural networks for joint training of all normal object classes, identifying a shared set of outlier exposures, learning compact identification features, and setting appropriate edge parameters to guide the model in mapping outliers outside the hypersphere. This approach enables more comprehensive detection of various types of exceptions. The experiments demonstrate that the algorithm is superior to the most advanced baseline method, with an improvement of 26.0%, 8.2%, and 20.1% on CIFAR-10 and 14.8%, 12.0%, and 20.1% on FMNIST in the cases of (2/8), (5/5), and (9,1), respectively. Furthermore, we investigate the challenging (2/18) case on CIFAR-100, where our method achieves approximately 17.4% AUROC gain. Lastly, for a recycling waste dataset with the (4/1) case, our MMHAD yields a notable 22% enhancement in performance. Experimental results show the effectiveness of the proposed model in multi-classification anomaly detection. Full article
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14 pages, 810 KiB  
Article
Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea
by Sung Ho Cho, Sung Ho Jeong, Won Hoon Choi and Sang-Yeon Lee
Int. J. Mol. Sci. 2024, 25(15), 8149; https://doi.org/10.3390/ijms25158149 - 26 Jul 2024
Viewed by 211
Abstract
Branchio-oto-renal (BOR) and branchio-otic (BO) syndromes are characterized by anomalies affecting the ears, often accompanied by hearing loss, as well as abnormalities in the branchial arches and renal system. These syndromes exhibit a broad spectrum of phenotypes and a complex genomic landscape, with [...] Read more.
Branchio-oto-renal (BOR) and branchio-otic (BO) syndromes are characterized by anomalies affecting the ears, often accompanied by hearing loss, as well as abnormalities in the branchial arches and renal system. These syndromes exhibit a broad spectrum of phenotypes and a complex genomic landscape, with significant contributions from the EYA1 gene and the SIX gene family, including SIX1 and SIX5. Due to their diverse phenotypic presentations, which can overlap with other genetic syndromes, molecular genetic confirmation is essential. As sequencing technologies advance, whole-genome sequencing (WGS) is increasingly used in rare disease diagnostics. We explored the genomic landscape of 23 unrelated Korean families with typical or atypical BOR/BO syndrome using a stepwise approach: targeted panel sequencing and exome sequencing (Step 1), multiplex ligation-dependent probe amplification (MLPA) with copy number variation screening (Step 2), and WGS (Step 3). Integrating WGS into our diagnostic pipeline detected structure variations, including cryptic inversion and complex genomic rearrangement, eventually enhancing the diagnostic yield to 91%. Our findings expand the genomic architecture of BOR/BO syndrome and highlight the need for WGS to address the genetic diagnosis of clinically heterogeneous rare diseases. Full article
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