Search Results (45)

Background: Congenital diarrhea is persistent diarrhea that manifests during the neonatal period. Mutations in DGAT1, which is crucial for triglyceride synthesis and lipid absorption in the small intestine, are causal factors for congenital diarrhea. In this study, we aimed to determine the value of tissue RNA sequencing (RNA-seq) for assisting with the clinical diagnosis of some genetic variants of uncertain significance. Methods: We clinically evaluated a patient with watery diarrhea, vomiting, severe malnutrition, and total parenteral nutrition dependence. Possible pathogenic variants were detected using whole-exome sequencing (WES). RNA-seq was utilized to explore the transcriptional alterations in DGAT1 variants identified by WES with unknown clinical significance, according to the American College of Medical Genetics guidelines. Systemic examinations, including endoscopic and histopathological examinations of the intestinal mucosa, were conducted to rule out other potential diagnoses. Results: We successfully diagnosed a patient with congenital diarrhea and protein-losing enteropathy caused by a DGAT1 mutation and reviewed the literature of 19 cases of children with DGAT defects. The missense mutation c.620A>G, p.Lys207Arg located in exon 15, and the intronic mutation c.1249-6T>G in DGAT1 were identified by WES. RNA-seq revealed two aberrant splicing events in the DGAT1 gene of the patient’s small intestinal tissue. Both variants lead to loss-of-function consequences and are classified as pathogenic variants of congenital diarrhea. Conclusions: Rare DGAT1 variants were identified as pathogenic evidence of congenital diarrhea, and the detection of tissue-specific mRNA splicing and transcriptional effects can provide auxiliary evidence. Full article

Multi-organ medical image segmentation is essential for accurate clinical diagnosis, effective treatment planning, and reliable prognosis, yet it remains challenging due to complex backgrounds, irrelevant noise, unclear organ boundaries, and wide variations in organ size. To address these challenges, the boundary feature learning and enhancement network is proposed. This model integrates a dedicated boundary learning module combined with an auxiliary loss function to strengthen the semantic correlations between boundary pixels and regional features, thus reducing category mis-segmentation. Additionally, channel and positional compound attention mechanisms are employed to selectively filter features and minimize background interference. To further enhance multi-scale representation capabilities, the dynamic scale-aware context module dynamically selects and fuses multi-scale features, significantly improving the model’s adaptability. The model achieves average Dice similarity coefficients of 81.67% on synapse and 90.55% on ACDC datasets, outperforming state-of-the-art methods. This network significantly improves segmentation by emphasizing boundary accuracy, noise reduction, and multi-scale adaptability, enhancing clinical diagnostics and treatment planning. Full article

Background: Sickle cell disease (SCD) individuals in India are mostly identified when they become symptomatic. To provide a timely diagnosis of SCD to participants, healthcare workers should be competent in using the point-of-care test (POCT). In this study, we aimed to evaluate the competence of healthcare workers to screen infants and adult populations through POCT. Methodology: This study was conducted in pilot mode over 8 months from April to November 2023. A random sampling method was used to select ten auxiliary nursing midwives (ANMs), ten lab technicians (LTs), and five medical officers (MOs). Each selected ANM and LT was supposed to conduct ten tests and MOs to conduct five tests. The POCT used to diagnose sickle cell disease was HemoTypeSC. Results: Among the healthcare workers who participated in the study, 67% belonged to the scheduled tribes. When the ANM and LT competencies were compared for the pre-analytical phase (phase I), ANMs were more competent than the LTs. ANMs were more adept at handling people, whereas the LTs were more competent in conducting the test procedures. When the comparison was made for the analytical phase (phase II), both the ANMs and LTs were found to be equally competent. ANMs followed the standard operating procedure (SOP) more precisely than MOs and LTs. In the post-analytical phase, LTs were found to be more competent than ANMs. The approach used in this study with sub-centers and primary health centers (PHCs) appears to have encouraged the feasibility of the screening program. Conclusions: The results of this study conclude that the healthcare workers in the region are competent to perform the POCT for the diagnosis of sickle cell disease. The POCT may be introduced in the program for the diagnosis of SCD. Full article

Alzheimer’s disease (AD), a degenerative condition affecting the central nervous system, has witnessed a notable rise in prevalence along with the increasing aging population. In recent years, the integration of cutting-edge medical imaging technologies with forefront theories in artificial intelligence has dramatically enhanced the efficiency of identifying and diagnosing brain diseases such as AD. This paper presents an innovative two-stage automatic auxiliary diagnosis algorithm for AD, based on an improved 3D DenseNet segmentation model and an improved MobileNetV3 classification model applied to brain MR images. In the segmentation network, the backbone network was simplified, the activation function and loss function were replaced, and the 3D GAM attention mechanism was introduced. In the classification network, firstly, the CA attention mechanism was added to enhance the model’s ability to capture positional information of disease features; secondly, dilated convolutions were introduced to extract richer features from the input feature maps; and finally, the fully connected layer of MobileNetV3 was modified and the idea of transfer learning was adopted to improve the model’s feature extraction capability. The results of the study showed that the proposed approach achieved classification accuracies of 97.85% for AD/NC, 95.31% for MCI/NC, 93.96% for AD/MCI, and 92.63% for AD/MCI/NC, respectively, which were 3.1, 2.8, 2.6, and 2.8 percentage points higher than before the improvement. Comparative and ablation experiments have validated the proposed classification performance of this method, demonstrating its capability to facilitate an accurate and efficient automated auxiliary diagnosis of AD, offering a deep learning-based solution for it. Full article

Artificial intelligence (AI), specifically Generative Pre-trained Transformer (GPT) technology, has revolutionized various fields, including medicine and dentistry. The AI model ChatGPT, developed by OpenAI, mimics human language on a large scale, generating coherent and contextually appropriate responses. ChatGPT serves as an auxiliary resource for diagnosis and decision-making across various medical disciplines. This comprehensive narrative review aims to explore how ChatGPT can assist the dental sector, highlighting its potential to enhance various aspects of the discipline. This review includes a literature search on the application of ChatGPT in dentistry, with a focus on the differences between the free version, ChatGPT 3.5, and the more advanced subscription-based version, ChatGPT 4. Specifically, ChatGPT has proven to be effective in enhancing user interaction, providing fast and accurate information and improving the accessibility of knowledge. However, despite these advantages, several limitations are identified, including concerns regarding the accuracy of responses in complex scenarios, ethical considerations surrounding its use, and the need for improved training to handle highly specialized queries. In conclusion, while ChatGPT offers numerous benefits in terms of efficiency and scalability, further research and development are needed to address these limitations, particularly in areas requiring greater precision, ethical oversight, and specialized expertise. Full article

Objectives: Optical coherence tomography (OCT) has recently been used in gynecology to detect cervical lesions in vivo and proven more effective than colposcopy in clinical trials. However, most gynecologists are unfamiliar with this new imaging technique, requiring intelligent computer-aided diagnosis approaches to help them interpret cervical OCT images efficiently. This study aims to (1) develop a clinically-usable deep learning (DL)-based classification model of 3D OCT volumes from cervical tissue and (2) validate the DL model’s effectiveness in detecting high-risk cervical lesions, including high-grade squamous intraepithelial lesions and cervical cancer. Method: The proposed DL model, designed based on the convolutional neural network architecture, combines a feature pyramid network (FPN) with texture encoding and deep supervision. We extracted, represent, and fused four-scale texture features to improve classification performance on high-risk local lesions. We also designed an auxiliary classification mechanism based on deep supervision to adjust the weight of each scale in FPN adaptively, enabling low-cost training of the whole model. Results: In the binary classification task detecting positive subjects with high-risk cervical lesions, our DL model achieved an 81.55% (95% CI, 72.70–88.51%) F1-score with 82.35% (95% CI, 69.13–91.60%) sensitivity and 81.48% (95% CI, 68.57–90.75%) specificity on the Renmin dataset, outperforming five experienced medical experts. It also achieved an 84.34% (95% CI, 74.71–91.39%) F1-score with 87.50% (95% CI, 73.20–95.81%) sensitivity and 90.59% (95% CI, 82.29–95.85%) specificity on the Huaxi dataset, comparable to the overall level of the best investigator. Moreover, our DL model provides visual diagnostic evidence of histomorphological and texture features learned in OCT images to assist gynecologists in making clinical decisions quickly. Conclusions: Our DL model holds great promise to be used in cervical lesion screening with OCT efficiently and effectively. Full article

Nowadays, depressive disorder is spreading rapidly all over the world. Therefore, attention to the studies of the pathogenesis of the disease in order to find novel ways of early diagnosis and treatment is increasing among the scientific and medical communities. Special attention is drawn to a biomarker and therapeutic strategy through the microbiota–gut–brain axis. It is known that the symbiotic interactions between the gut microbes and the host can affect mental health. The review analyzes the mechanisms and ways of action of the gut microbiota on the pathophysiology of depression. The possibility of using knowledge about the taxonomic composition and metabolic profile of the microbiota of patients with depression to select gene compositions (metagenomic signature) as biomarkers of the disease is evaluated. The use of in silico technologies (machine learning) for the diagnosis of depression based on the biomarkers of the gut microbiota is given. Alternative approaches to the treatment of depression are being considered by balancing the microbial composition through dietary modifications and the use of additives, namely probiotics, postbiotics (including vesicles) and prebiotics as psychobiotics, and fecal transplantation. The bacterium Faecalibacterium prausnitzii is under consideration as a promising new-generation probiotic and auxiliary diagnostic biomarker of depression. The analysis conducted in this review may be useful for clinical practice and pharmacology. Full article

In the realm of medical image analysis, the cost associated with acquiring accurately labeled data is prohibitively high. To address the issue of label scarcity, semi-supervised learning methods are employed, utilizing unlabeled data alongside a limited set of labeled data. This paper presents a novel semi-supervised medical segmentation framework, DCCLNet (deep consistency collaborative learning UNet), grounded in deep consistent co-learning. The framework synergistically integrates consistency learning from feature and input perturbations, coupled with collaborative training between CNN (convolutional neural networks) and ViT (vision transformer), to capitalize on the learning advantages offered by these two distinct paradigms. Feature perturbation involves the application of auxiliary decoders with varied feature disturbances to the main CNN backbone, enhancing the robustness of the CNN backbone through consistency constraints generated by the auxiliary and main decoders. Input perturbation employs an MT (mean teacher) architecture wherein the main network serves as the student model guided by a teacher model subjected to input perturbations. Collaborative training aims to improve the accuracy of the main networks by encouraging mutual learning between the CNN and ViT. Experiments conducted on publicly available datasets for ACDC (automated cardiac diagnosis challenge) and Prostate datasets yielded Dice coefficients of 0.890 and 0.812, respectively. Additionally, comprehensive ablation studies were performed to demonstrate the effectiveness of each methodological contribution in this study. Full article

The distribution of adipose tissue in the lungs is intricately linked to a variety of lung diseases, including asthma, chronic obstructive pulmonary disease (COPD), and lung cancer. Accurate detection and quantitative analysis of subcutaneous and visceral adipose tissue surrounding the lungs are essential for effectively diagnosing and managing these diseases. However, there remains a noticeable scarcity of studies focusing on adipose tissue within the lungs on a global scale. Thus, this paper introduces a ConvBiGRU model for localizing lung slices and a multi-module UNet-based model for segmenting subcutaneous adipose tissue (SAT) and visceral adipose tissue (VAT), contributing to the analysis of lung adipose tissue and the auxiliary diagnosis of lung diseases. In this study, we propose a bidirectional gated recurrent unit (BiGRU) structure for precise lung slice localization and a modified multi-module UNet model for accurate SAT and VAT segmentations, incorporating an additive weight penalty term for model refinement. For segmentation, we integrate attention, competition, and multi-resolution mechanisms within the UNet architecture to optimize performance and conduct a comparative analysis of its impact on SAT and VAT. The proposed model achieves satisfactory results across multiple performance metrics, including the Dice Score (92.0% for SAT and 82.7% for VAT), F1 Score (82.2% for SAT and 78.8% for VAT), Precision (96.7% for SAT and 78.9% for VAT), and Recall (75.8% for SAT and 79.1% for VAT). Overall, the proposed localization and segmentation framework exhibits high accuracy and reliability, validating its potential application in computer-aided diagnosis (CAD) for medical tasks in this domain. Full article

Organ segmentation from CT images is critical in the early diagnosis of diseases, progress monitoring, pre-operative planning, radiation therapy planning, and CT dose estimation. However, data limitation remains one of the main challenges in medical image segmentation tasks. This challenge is particularly huge in pediatric CT segmentation due to children’s heightened sensitivity to radiation. In order to address this issue, we propose a novel segmentation framework with a built-in auxiliary classifier generative adversarial network (ACGAN) that conditions age, simultaneously generating additional features during training. The proposed conditional feature generation segmentation network (CFG-SegNet) was trained on a single loss function and used 2.5D segmentation batches. Our experiment was performed on a dataset with 359 subjects (180 male and 179 female) aged from 5 days to 16 years and a mean age of 7 years. CFG-SegNet achieved an average segmentation accuracy of 0.681 dice similarity coefficient (DSC) on the prostate, 0.619 DSC on the uterus, 0.912 DSC on the liver, and 0.832 DSC on the heart with four-fold cross-validation. We compared the segmentation accuracy of our proposed method with previously published U-Net results, and our network improved the segmentation accuracy by $2.7\%$, $2.6\%$, $2.8\%$, and $3.4\%$ for the prostate, uterus, liver, and heart, respectively. The results indicate that our high-performing segmentation framework can more precisely segment organs when limited training images are available. Full article

In recent years, there has been a significant increase in collaboration between medical imaging and artificial intelligence technology. The use of automated techniques for detecting medical symptoms has become increasingly prevalent. However, there has been a lack of research on the relationship between impacted teeth and the inferior alveolar nerve (IAN) in DPR images. The severe compression of teeth against the IAN may necessitate the requirement for nerve canal treatment. To reduce the occurrence of such events, this study aims to develop an auxiliary detection system capable of precisely locating the relative positions of the IAN and impacted teeth through object detection and image enhancement. This system is designed to shorten the duration of examinations for dentists while concurrently mitigating the chances of diagnostic errors. The innovations in this research are as follows: (1) using YOLO_v4 to identify impacted teeth and the IAN in DPR images achieves an accuracy of 88%. However, the developed algorithm in this study achieves an accuracy of 93%. (2) Image enhancement is utilized in this study to expand the dataset, with an accuracy of up to 2~3% enhancement in detecting diseases. (3) The segmentation technique proposed in this study surpasses previous methods by achieving 6% higher accuracy in dental diagnosis. Full article

The Internet of Medical Things (IoMT) can automate breast tumor detection and classification with the potential of artificial intelligence. However, the leakage of sensitive data can cause harm to patients. To address this issue, this study proposed an intrauterine breast cancer diagnosis method, namely “Privacy-Embedded Lightweight and Efficient Automated (PLA)”, for IoMT, which represents an approach that combines privacy-preserving techniques, efficiency, and automation to achieve our goals. Firstly, our model is designed to achieve lightweight classification prediction and global information processing of breast cancer by utilizing an advanced IoMT-friendly ViT backbone. Secondly, PLA protects patients’ privacy by federated learning, taking the classification task of breast cancer as the main task and introducing the texture analysis task of breast cancer images as the auxiliary task to train the model. For our PLA framework, the classification accuracy is 0.953, the recall rate is 0.998 for the best, the F1 value is 0.969, the precision value is 0.988, and the classification time is 61.9 ms. The experimental results show that the PLA model performs better than all of the comparison methods in terms of accuracy, with an improvement of more than 0.5%. Furthermore, our proposed model demonstrates significant advantages over the comparison methods regarding time and memory. Full article

The musculoskeletal system plays a crucial role in our daily lives, and the accurate diagnosis of musculoskeletal issues is essential for providing effective healthcare. However, the classification of musculoskeletal system radiographs is a complex task, requiring both accuracy and efficiency. This study addresses this challenge by introducing and evaluating a pyramid deep feature extraction model for the automatic classification of musculoskeletal system radiographs. The primary goal of this research is to develop a reliable and efficient solution to classify different upper extremity regions in musculoskeletal radiographs. To achieve this goal, we conducted an end-to-end training process using a pre-trained EfficientNet B0 convolutional neural network (CNN) model. This model was trained on a dataset of radiographic images that were divided into patches of various sizes, including 224 × 224, 112 × 112, 56 × 56, and 28 × 28. From the trained CNN model, we extracted a total of 85,000 features. These features were subsequently subjected to selection using the neighborhood component analysis (NCA) feature selection algorithm and then classified using a support vector machine (SVM). The results of our experiments are highly promising. The proposed model successfully classified various upper extremity regions with high accuracy rates: 92.04% for the elbow region, 91.19% for the finger region, 92.11% for the forearm region, 91.34% for the hand region, 91.35% for the humerus region, 89.49% for the shoulder region, and 92.63% for the wrist region. These results demonstrate the effectiveness of our deep feature extraction model as a potential auxiliary tool in the automatic analysis of musculoskeletal system radiographs. By automating the classification of musculoskeletal radiographs, our model has the potential to significantly accelerate clinical diagnostic processes and provide more precise results. This advancement in medical imaging technology can ultimately lead to better healthcare services for patients. However, future studies are crucial to further refine and test the model for practical clinical applications, ensuring that it integrates seamlessly into medical diagnosis and treatment processes, thus improving the overall quality of healthcare services. Full article

Epilepsy is a chronic brain disease with recurrent seizures. Mesial temporal lobe epilepsy (MTLE) is the most common pathological cause of epilepsy. With the development of computer-aided diagnosis technology, there are many auxiliary diagnostic approaches based on deep learning algorithms. However, the causes of epilepsy are complex, and distinguishing different types of epilepsy accurately is challenging with a single mode of examination. In this study, our aim is to assess the combination of multi-modal epilepsy medical information from structural MRI, PET image, typical clinical symptoms and personal demographic and cognitive data (PDC) by adopting a multi-channel 3D deep convolutional neural network and pre-training PET images. The results show better diagnosis accuracy than using one single type of medical data alone. These findings reveal the potential of a deep neural network in multi-modal medical data fusion. Full article

An evidence-based diagnostic algorithm for adult asthma is necessary for effective treatment and management. We present a diagnostic algorithm that utilizes a random forest (RF) and an optimized eXtreme Gradient Boosting (XGBoost) classifier to diagnose adult asthma as an auxiliary tool. Data were gathered from the medical records of 566 adult outpatients who visited Kindai University Hospital with complaints of nonspecific respiratory symptoms. Specialists made a thorough diagnosis of asthma based on symptoms, physical indicators, and objective testing, including airway hyperresponsiveness. We used two decision-tree classifiers to identify the diagnostic algorithms: RF and XGBoost. Bayesian optimization was used to optimize the hyperparameters of RF and XGBoost. Accuracy and area under the curve (AUC) were used as evaluation metrics. The XGBoost classifier outperformed the RF classifier with an accuracy of 81% and an AUC of 85%. A combination of symptom–physical signs and lung function tests was successfully used to construct a diagnostic algorithm on importance features for diagnosing adult asthma. These results indicate that the proposed model can be reliably used to construct diagnostic algorithms with selected features from objective tests in different settings. Full article