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International Journal of Molecular... Feb 2024Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular... (Review)
Review
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular myocardium, leading to myocardial atrophy. Although the structural changes usually affect the right ventricle, the pathology may also manifest with either isolated left ventricular myocardium or biventricular involvement. As ARVC shows an autosomal dominant pattern of inheritance with variable penetrance, the clinical presentation of the disease is highly heterogeneous, with different degrees of severity and patterns of myocardial involvement even in patients of the same familiar group with the same gene mutation: the pathology spectrum ranges from the absence of symptoms to sudden cardiac death (SCD) sustained by ventricular arrhythmias, which may, in some cases, be the first manifestation of an otherwise silent pathology. An evidence-based systematic review of the literature was conducted to evaluate the state of the art of the diagnostic techniques for the correct post-mortem identification of ARVC. The research was performed using the electronic databases PubMed and Scopus. A methodological approach to reach a correct post-mortem diagnosis of ARVC was described, analyzing the main post-mortem peculiar macroscopic, microscopic and radiological alterations. In addition, the importance of performing post-mortem genetic tests has been underlined, which may lead to the correct identification and characterization of the disease, especially in those ARVC forms where anatomopathological investigation does not show evident morphostructural damage. Furthermore, the usefulness of genetic testing is not exclusively limited to the correct diagnosis of the pathology, but is essential for promoting targeted screening programs to the deceased's family members. Nowadays, the post-mortem diagnosis of ARVC performed by forensic pathologist remains very challenging: therefore, the identification of a clear methodological approach may lead to both a reduction in under-diagnoses and to the improvement of knowledge on the disease.
Topics: Humans; Arrhythmogenic Right Ventricular Dysplasia; Autopsy; Myocardium; Databases, Factual; Death, Sudden, Cardiac
PubMed: 38473714
DOI: 10.3390/ijms25052467 -
PeerJ. Computer Science 2024Blood diseases such as leukemia, anemia, lymphoma, and thalassemia are hematological disorders that relate to abnormalities in the morphology and concentration of blood...
BACKGROUND
Blood diseases such as leukemia, anemia, lymphoma, and thalassemia are hematological disorders that relate to abnormalities in the morphology and concentration of blood elements, specifically white blood cells (WBC) and red blood cells (RBC). Accurate and efficient diagnosis of these conditions significantly depends on the expertise of hematologists and pathologists. To assist the pathologist in the diagnostic process, there has been growing interest in utilizing computer-aided diagnostic (CAD) techniques, particularly those using medical image processing and machine learning algorithms. Previous surveys in this domain have been narrowly focused, often only addressing specific areas like segmentation or classification but lacking a holistic view like segmentation, classification, feature extraction, dataset utilization, evaluation matrices, .
METHODOLOGY
This survey aims to provide a comprehensive and systematic review of existing literature and research work in the field of blood image analysis using deep learning techniques. It particularly focuses on medical image processing techniques and deep learning algorithms that excel in the morphological characterization of WBCs and RBCs. The review is structured to cover four main areas: segmentation techniques, classification methodologies, descriptive feature selection, evaluation parameters, and dataset selection for the analysis of WBCs and RBCs.
RESULTS
Our analysis reveals several interesting trends and preferences among researchers. Regarding dataset selection, approximately 50% of research related to WBC segmentation and 60% for RBC segmentation opted for manually obtaining images rather than using a predefined dataset. When it comes to classification, 45% of the previous work on WBCs chose the ALL-IDB dataset, while a significant 73% of researchers focused on RBC classification decided to manually obtain images from medical institutions instead of utilizing predefined datasets. In terms of feature selection for classification, morphological features were the most popular, being chosen in 55% and 80% of studies related to WBC and RBC classification, respectively.
CONCLUSION
The diagnostic accuracy for blood-related diseases like leukemia, anemia, lymphoma, and thalassemia can be significantly enhanced through the effective use of CAD techniques, which have evolved considerably in recent years. This survey provides a broad and in-depth review of the techniques being employed, from image segmentation to classification, feature selection, utilization of evaluation matrices, and dataset selection. The inconsistency in dataset selection suggests a need for standardized, high-quality datasets to strengthen the diagnostic capabilities of these techniques further. Additionally, the popularity of morphological features indicates that future research could further explore and innovate in this direction.
PubMed: 38435563
DOI: 10.7717/peerj-cs.1813 -
Frontiers in Oncology 2024The risk that a large polyp (≥10 mm) evolves into high-grade dysplasia (HGD) is relatively high compared with that of a small/diminutive polyp (<10 mm). Recently, the...
INTRODUCTION
The risk that a large polyp (≥10 mm) evolves into high-grade dysplasia (HGD) is relatively high compared with that of a small/diminutive polyp (<10 mm). Recently, the detection of small and diminutive polyps has been substantially improved with the advancement of endoscopy. However, further research is needed on the role of the incidence of HGD caused by the co-occurrence of small and diminutive polyps in the progression of HGD. In this study, we aim to investigate whether and how the small and diminutive polyps correlate with the incidence of HGD in the population.
METHODS
The pooled data were deeply analyzed from four published randomized controlled trials (RCTs) regarding colon polyp detection. All polyps detected were examined and confirmed by pathologists. The primary outcome was the composition ratio of the HGD polyps in each polyp size category.
RESULTS
Among a total of 3,179 patients with 2,730 polyps identified, there were 83 HGD polyps confirmed, and 68 patients had at least one polyp with HGD. The risk of development of HGD was lower for a single small and diminutive polyp than for one large polyp (2.18% vs. 22.22%, < 0.0001). On the contrary, the composition ratio for HGD from small and diminutive polyps was significantly higher than that from the large ones (68.67% vs. 31.33%, < 0.0001). The combined number of HGD presented a trend negatively correlated to size.
CONCLUSIONS
Our data demonstrated that the absolute number of HGD significantly derives more from small and diminutive polyps than from the large ones, and the collective number of small and diminutive polyps per patient is indicative of his/her HGD exposure. These findings positively provide novel perspectives on the management of polyps and may further optimize the prevention of colorectal cancer.
SYSTEMATIC REVIEW REGISTRATION
http://www.chictr.org.cn, identifier ChiCTR1900025235, ChiCTR1800017675, ChiCTR1800018058, and ChiCTR1900023086.
PubMed: 38410098
DOI: 10.3389/fonc.2024.1294745 -
Diagnostics (Basel, Switzerland) Feb 2024Digital pathology (DP) has begun to play a key role in the evaluation of liver specimens. Recent studies have shown that a workflow that combines DP and artificial... (Review)
Review
Digital pathology (DP) has begun to play a key role in the evaluation of liver specimens. Recent studies have shown that a workflow that combines DP and artificial intelligence (AI) applied to histopathology has potential value in supporting the diagnosis, treatment evaluation, and prognosis prediction of liver diseases. Here, we provide a systematic review of the use of this workflow in the field of hepatology. Based on the PRISMA 2020 criteria, a search of the PubMed, SCOPUS, and Embase electronic databases was conducted, applying inclusion/exclusion filters. The articles were evaluated by two independent reviewers, who extracted the specifications and objectives of each study, the AI tools used, and the results obtained. From the 266 initial records identified, 25 eligible studies were selected, mainly conducted on human liver tissues. Most of the studies were performed using whole-slide imaging systems for imaging acquisition and applying different machine learning and deep learning methods for image pre-processing, segmentation, feature extractions, and classification. Of note, most of the studies selected demonstrated good performance as classifiers of liver histological images compared to pathologist annotations. Promising results to date bode well for the not-too-distant inclusion of these techniques in clinical practice.
PubMed: 38396427
DOI: 10.3390/diagnostics14040388 -
Toxics Feb 2024Documented cases of sodium nitrite toxicity are almost exclusively caused by accidental ingestion; however, self-poisoning with sodium nitrite represents an increasing... (Review)
Review
Documented cases of sodium nitrite toxicity are almost exclusively caused by accidental ingestion; however, self-poisoning with sodium nitrite represents an increasing trend in nitrate-related deaths. This systematic review summarizes the most crucial evidence regarding the fatal toxicity of sodium nitrite. It identifies gaps and differences in the diagnostic forensic approaches and the detection methods of sodium nitrite intoxication. A total of eleven research articles were selected for qualitative and quantitative data. Most of the studies (6/11) were case reports. Fifty-three cases of fatal intoxication with sodium nitrite were chosen for the review. More research is required to develop cost-effective techniques and uniform cutoffs for blood nitrite and nitrate levels in the event of deadly sodium nitrite poisoning. There is still a lack of critical information on other matrices and the impact of time since death on toxicological results in such situations. The available evidence provides useful recommendations for forensic pathologists and health practitioners engaged in instances of sodium nitrite poisoning or death. The data should also set off alarm bells in the public health system, in prosecutor's offices, and for policymakers so that they may undertake preventative measures to stop and restrict the unregulated market for these substances.
PubMed: 38393219
DOI: 10.3390/toxics12020124 -
Archives of Pathology & Laboratory... Jun 2024In 2014, the College of American Pathologists developed an evidence-based guideline to address analytic validation of immunohistochemical assays. Fourteen...
CONTEXT.—
In 2014, the College of American Pathologists developed an evidence-based guideline to address analytic validation of immunohistochemical assays. Fourteen recommendations were offered. Per the National Academy of Medicine standards for developing trustworthy guidelines, guidelines should be updated when new evidence suggests modifications.
OBJECTIVE.—
To assess evidence published since the release of the original guideline and develop updated evidence-based recommendations.
DESIGN.—
The College of American Pathologists convened an expert panel to perform a systematic review of the literature and update the original guideline recommendations using the Grading of Recommendations Assessment, Development and Evaluation approach.
RESULTS.—
Two strong recommendations, 1 conditional recommendation, and 12 good practice statements are offered in this updated guideline. They address analytic validation or verification of predictive and nonpredictive assays, and recommended revalidation procedures following changes in assay conditions.
CONCLUSIONS.—
While many of the original guideline statements remain similar, new recommendations address analytic validation of assays with distinct scoring systems, such as programmed death receptor-1 and analytic verification of US Food and Drug Administration approved/cleared assays; more specific guidance is offered for validating immunohistochemistry performed on cytology specimens.
Topics: Humans; Immunohistochemistry; Reproducibility of Results; United States; Evidence-Based Medicine; Practice Guidelines as Topic; Pathology, Clinical
PubMed: 38391878
DOI: 10.5858/arpa.2023-0483-CP -
International Journal of Circumpolar... Dec 2024Telerehabilitation is proposed as a promising avenue to enhance service accessibility for Indigenous communities, yet its application for Indigenous children remains... (Review)
Review
Telerehabilitation is proposed as a promising avenue to enhance service accessibility for Indigenous communities, yet its application for Indigenous children remains relatively unexplored. This scoping review followed the PRISMA-ScR framework to explore current knowledge on the use of telerehabilitation for Indigenous children. Ten scholarly databases, seven grey literature databases, reference searches, and expert consultations were utilised to identify relevant studies. Included articles discussed the use of telerehabilitation provided by rehabilitation professionals (e.g. occupational therapist (OT), physical therapist (PT), speech and language pathologist (SLP) to Indigenous children and/or caregivers. Seven studies were included. Telerehabilitation was explored in different ways, the most common being real-time videoconferencing by SLPs. While some studies explicitly acknowledged cultural responsiveness within both the research process and the intervention, most were not designed for Indigenous children and their caregivers; rather, these participants were included with non-Indigenous participants. Successful implementation and sustainability of telerehabilitation services requires addressing technological limitations, understanding, and respecting diverse worldviews, and co-developing services to meet the unique needs of Indigenous families. Telerehabilitation has been rarely used with Indigenous children and when it was, little attention was given to cultural considerations. These findings emphasise that future telerehabilitation interventions should be truly community-led to ensure cultural relevance.
Topics: Child; Humans; Telemedicine; Videoconferencing; Caregivers
PubMed: 38320112
DOI: 10.1080/22423982.2024.2308944 -
International Journal of Molecular... Jan 2024Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, and it shows an autosomal dominant pattern of inheritance. HCM can be... (Review)
Review
Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, and it shows an autosomal dominant pattern of inheritance. HCM can be clinically silent, and sudden unexpected death due to malignant arrhythmias may be the first manifestation. Thus, the HCM diagnosis could be performed at a clinical and judicial autopsy and offer useful findings on morphological features; moreover, it could integrate the knowledge on the genetic aspect of the disease. This review aims to systematically analyze the literature on the main post-mortem investigations and the related findings of HCM to reach a well-characterized and stringent diagnosis; the review was performed using PubMed and Scopus databases. The articles on the post-mortem evaluation of HCM by gross and microscopic evaluation, imaging, and genetic test were selected; a total of 36 studies were included. HCM was described with a wide range of gross findings, and there were cases without morphological alterations. Myocyte hypertrophy, disarray, fibrosis, and small vessel disease were the main histological findings. The post-mortem genetic tests allowed the diagnosis to be reached in cases without morpho-structural abnormalities; clinical and forensic pathologists have a pivotal role in HCM diagnosis; they contribute to a better definition of the disease and also provide data on the genotype-phenotype correlation, which is useful for clinical research.
Topics: Humans; Cardiomyopathy, Hypertrophic; Genetic Testing; Arrhythmias, Cardiac; Autopsy; Fibrosis; Phenotype; Death, Sudden, Cardiac
PubMed: 38279275
DOI: 10.3390/ijms25021275 -
BMC Oral Health Jan 2024Since AI algorithms can analyze patient data, medical records, and imaging results to suggest treatment plans and predict outcomes, they have the potential to support... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Since AI algorithms can analyze patient data, medical records, and imaging results to suggest treatment plans and predict outcomes, they have the potential to support pathologists and clinicians in the diagnosis and treatment of oral and maxillofacial pathologies, just like every other area of life in which it is being used. The goal of the current study was to examine all of the trends being investigated in the area of oral and maxillofacial pathology where AI has been possibly involved in helping practitioners.
METHODS
We started by defining the important terms in our investigation's subject matter. Following that, relevant databases like PubMed, Scopus, and Web of Science were searched using keywords and synonyms for each concept, such as "machine learning," "diagnosis," "treatment planning," "image analysis," "predictive modelling," and "patient monitoring." For more papers and sources, Google Scholar was also used.
RESULTS
The majority of the 9 studies that were chosen were on how AI can be utilized to diagnose malignant tumors of the oral cavity. AI was especially helpful in creating prediction models that aided pathologists and clinicians in foreseeing the development of oral and maxillofacial pathology in specific patients. Additionally, predictive models accurately identified patients who have a high risk of developing oral cancer as well as the likelihood of the disease returning after treatment.
CONCLUSIONS
In the field of oral and maxillofacial pathology, AI has the potential to enhance diagnostic precision, personalize care, and ultimately improve patient outcomes. The development and application of AI in healthcare, however, necessitates careful consideration of ethical, legal, and regulatory challenges. Additionally, because AI is still a relatively new technology, caution must be taken when applying it to this industry.
Topics: Humans; Algorithms; Artificial Intelligence; Image Processing, Computer-Assisted; Medical Records; Mouth; Face
PubMed: 38263027
DOI: 10.1186/s12903-023-03533-7 -
Frontiers in Psychology 2023The main objective of this systematic review was to synthesize the evidence on the occurrence and characteristics of stuttering in individuals with Down syndrome and... (Review)
Review
The main objective of this systematic review was to synthesize the evidence on the occurrence and characteristics of stuttering in individuals with Down syndrome and thus contribute knowledge about stuttering in this population. Group studies reporting outcome measures of stuttering were included. Studies with participants who were preselected based on their fluency status were excluded. We searched the Eric, PsychInfo, Medline, Scopus, and Web of Science Core Collection databases on 3rd January 2022 and conducted supplementary searches of the reference lists of previous reviews and the studies included in the current review, as well as relevant speech and language journals. The included studies were coded in terms of information concerning sample characteristics, measurement approaches, and stuttering-related outcomes. The appraisal tool for cross-sectional studies (AXIS) was used to evaluate study quality. We identified 14 eligible studies, with a total of 1,833 participants (mean = 131.29, standard deviation = 227.85, median = 45.5) between 3 and 58 years of age. The estimated occurrence of stuttering ranged from 2.38 to 56%, which is substantially higher than the estimated prevalence (1%) of stuttering in the general population. The results also showed that stuttering severity most often was judged to be mild-to-moderate and that individuals with Down syndrome displayed secondary behaviors when these were measured. However, little attention has been paid to investigating the potential adverse effects of stuttering for individuals with Down syndrome. We judged the quality of the evidence to be moderate-to-low. The negative evaluation was mostly due to sampling limitations that decreased the representability and generalizability of the results. Based on the high occurrence of stuttering and the potential negative effects of this condition, individuals with Down syndrome who show signs of stuttering should be referred to a speech and language pathologist for an evaluation of their need for stuttering treatment.
PubMed: 38094702
DOI: 10.3389/fpsyg.2023.1176743