Pathologic Interpretation Research Articles

Brief Overview on Pathology of Blood and Urine

Clinical pathology is recognized as an essential component of the preclinical safety evaluation of test articles (new chemical entities, exploratory novel medicines, and xenobiotics), particularly in short- and medium-term toxicity studies. Traditionally, this evaluation includes clinical chemistry, coagulation, hematology, and urinalysis assessments. The findings of these assessments include details on the general state of health of the animals as well as target organs and general metabolic, adaptive, or harmful processes linked to test material exposure. Consequently, in the preclinical safety assessment of a test article, clinical pathology evaluations aid in the establishment of toxicological dose-response correlations. These findings hold significance and relevance for dose selection in long-term research, as well as for risk assessment and management when applied to humans. Guidance on the fundamentals of clinical pathology testing and interpretation in the species utilized in toxicological investigations is the aim of this chapter. In order to increase testing capacity and enhance its ability to identify more sensitive, early signals of drug-induced target organ toxicity or pathophysiology, the application of clinical pathology testing in preclinical safety assessment as well as the areas of development for novel biomarker implementation within the laboratory are discussed. Lastly, the significance of interpreting clinical pathology and combining the results with data from other studies is emphasized when assessing overall safety or risk assessment

Utility of digital cell imaging as an aid to enhance pathologist peripheral blood smear review for routine and on call practice: A verification study

Abstract Introduction/Objective Microscopic examination of peripheral blood smear (PBS) provides important information to support the diagnosis of hematological diseases. However, manual microscopic examination of PBS is labor-intensive and cannot be done remotely. CellaVision is digital cell imaging technology that provides pre-classification and digital imaging of the red blood cells (RBCs), white blood cells (WBCs), and platelets, myeloid, lymphoid and erythroid precursors. Several studies have evaluated the performance of this technology in the hematology laboratory as tool to assist laboratory technologists; our study evaluates its use for pathologist review of peripheral blood smears both during routine and on call practice. Methods/Case Report Our study included 30 PBS and two hematopathologists with greater than 10 years’ experience in performing PBS review. We compared pathologist’s own impression of microscopic PBS review to their own impression using CellaVision software (intraobserver comparison). Additionally, pathologist to pathologist impression was compared for both methods (interobserver comparison). All 30 cases revealed abnormal findings including, but not limited to: pancytopenia, leukocytosis, leukopenia, anemia, thrombocytopenia, and thrombocytosis. Of the 30 cases, 5 “on-call” were cases when the pathologist had to come on–site for pathologist PBS review. Results (if a Case Study enter NA) The pathologists own PBS interpretation (intraobserver) by microscopy and CellaVision had a concordance of 96.7%. The pathologist to pathologist interpretation of both methods had a concordance of 96.7%.The one discrepant case was a smear with platelet clumping and normal platelet count. On chart review of this case, this discrepancy would have minimal impact on patient care. Conclusion Pathologist use of CellaVision in their routine practice may result in speedier PBS review, particularly in cases with leukopenia, and better communication with laboratory technologists. CellaVision is less reliable in identifying platelet clumps and should not be used in isolation in evaluating thrombocytopenia. Used with other relevant data, CellaVision has the potential to preempt in person microscopic review of PBS when on-call in certain situations.

Does The Diagnostic Performance Of The Pathologist On The Indeterminate Categories Of The Bethesda System For Reporting Thyroid Cytopathology Vary Between Pediatric And Adult Patients?

The objectives of this study were to investigate the variation in the use of indeterminate categories of The Bethesda System for reporting thyroid cytopathology across age groups, particularly focusing on 'atypia of undetermined significance (AUS) category, and discern the potential role of a bias in pathologist's interpretation when dialing with pediatric patients. To highlight a more refined diagnostic pattern, thyroid fine-needle aspirations reported by a single pathologist over a span of 10 years enrolled to the study. A total of 8827 cases from patients aged between 2 and 89 were categorized for each decades of ages. For the AUS category, AUS to malignant (AUS:M) ratio was calculated, and variations in distinct age groups and across the years were noted. The rate of indeterminate categories was 19% for the pediatric cases and 11% for the adults. When compared to adults, AUS diagnosis was more common in pediatric patients (14% vs. 9%), with rates of malignancy (ROM) 54% and 45%, respectively. The AUS:M ratio during the study period ranged between 0.5 and 2.3 (mean 1.4). AUS:M ratio was highest in children below the age 11. Among AUS subtypes, AUS-nuclear predominated in both age groups, and papillary thyroid carcinoma emerged as the most common malignancy after resection. Follicular neoplasia category was higher in pediatric patients than adults (4% vs.1%), with similar ROMs (29% vs. 32%). Indeterminate cytology diagnosis and subsequent ROM is higher in pediatric patients, which might be attributable to a slightly higher use of AUS diagnosis in the youngest children.

Performance of post-mortem diagnostic tests for tuberculosis in wild ungulates at low and high prevalence assessed using Bayesian latent class models.

Animal tuberculosis (TB) is often maintained by multi-host communities, including livestock and wildlife. Quantitative studies of such communities require estimating the true prevalence of TB, correcting the apparent prevalence by the diagnostic sensitivity (Se) and specificity (Sp) of the test. The goal of this study was to lay the foundations for estimating the true prevalence of TB in wild ungulate populations (wild boar and two cervids: red deer and fallow deer). We used Bayesian latent class models to assess the Se and Sp of gross pathology, IS6110 real-time PCR in tissues, bacteriological culture, and P22 indirect ELISA. We analyzed 308 harvested wild ungulates (211 wild boar and 97 cervids: 92 red deer and 5 fallow deer). The Se of bacteriological culture (80.4%, CI95 61.0-96.3%) and gross pathology (87.9%, CI95 69.5-99.9%) was reasonably good in wild boar. These tests showed lower Se in cervids: 60.2% (CI95 38.3-82.3%) for bacteriological culture and 81.5% (CI95 63.6-96.2%) for gross pathology. The Se of the real-time PCR was low (50.7% in wild boar and 53.0% in cervids). These tests showed Sp between 95.2 and 99.1% in both taxa. The P22 ELISA performed reasonably well in wild boar (Se = 71.9%, CI95 59.2-83.4%; Sp = 98.8%, CI95 96.9-99.9%) but lacked Sp in cervids (Se = 77.1%, CI95 62.9-89.7%; Sp = 74.5%, CI95 65.7-83.3%). The real-time PCR in wild boar and cervids and bacteriological culture in cervids tended to show higher Se in low-prevalence populations, possibly due to a higher proportion of early-stage TB lesions. In cervids, the parallel interpretation of gross pathology and bacteriological culture significantly improved the diagnostic performance (Se = 93.1%, CI95 84.7-98.9%; Sp = 92.9%, CI95 86.0-98.3%). Our results allow the estimation of true prevalence from the results of a single diagnostic test applied to harvested wild boar, red deer, and fallow deer, paving the way for more precise quantitative ecological studies of the multi-host TB maintenance community.

Scaling cervical cancer screening in Mozambique: analysis of loop electrosurgical excision procedure (LEEP) specimens

ObjectivesAs cervical cancer screening programs are implemented and expanded, an increasing number of women require loop electrosurgical excision procedure (LEEP) for treatment of pre-invasive cervical disease. Our objective was to...

Educational exchange in thyroid core needle biopsy diagnosis: enhancing pathological interpretation through guideline integration and peer learning.

While fine needle aspiration cytology (FNAC) plays an essential role in the screening of thyroid nodules, core needle biopsy (CNB) acts as an alternative method to address FNAC limitations. However, diagnosing thyroid CNB samples can be challenging due to variations in background and levels of experience. Effective training is indispensable to mitigate this challenge. We aim to evaluate the impact of an educational program on improving the accuracy of CNB diagnostics. The 2-week observational program included a host mentor pathologist with extensive experience and a visiting pathologist. The CNB classification by The Practice Guidelines Committee of the Korean Thyroid Association was used for the report. Two rounds of reviewing the case were carried out, and the level of agreement between the reviewers was analyzed. The first-round assessment showed a concordance between two pathologists for 247 thyroid CNB specimens by 84.2%, with a kappa coefficient of 0.74 (indicating substantial agreement). This finding was attributed to the discordance in the use of categories III and V. After peer learning, the two pathologists evaluated 30 new cases, which showed an overall improvement in the level of agreement. The percentage of agreement between pathologists on thyroid CNB diagnosis was 86.7%, as measured by kappa coefficient of 0.80. This educational program, consisting of guided mentorship and peer learning, can substantially enhance the diagnostic accuracy of thyroid CNB. It is useful in promoting consistent diagnostic standards and contributes to the ongoing development of global pathology practices.

Development of a diagnostic support system for the fibrosis of nonalcoholic fatty liver disease using artificial intelligence and deep learning.

Liver fibrosis is a pathological condition characterized by the abnormal proliferation of liver tissue, subsequently able to progress to cirrhosis or possibly hepatocellular carcinoma. The development of artificial intelligence and deep learning have begun to play a significant role in fibrosis detection. This study aimed to develop SMART AI-PATHO, a fully automated assessment method combining quantification of histopathological architectural features, to analyze steatosis and fibrosis in nonalcoholic fatty liver disease (NAFLD) core biopsies and employ Metavir fibrosis staging as standard references and fat assessment grading measurement for comparison with the pathologist interpretations. There were 146 participants enrolled in our study. The correlation of Metavir scoring system interpretation between pathologists and SMART AI-PATHO was significantly correlated (Agreement = 68%, Kappa = 0.59, p-value <0.001), which subgroup analysis of significant fibrosis (Metavir score F2-F4) and nonsignificant fibrosis (Metavir score F0-F1) demonstrated substantial correlated results (agreement = 80%, kappa = 0.61, p-value <0.001), corresponding with the correlation of advanced fibrosis (Metavir score F3-F4) and nonadvanced fibrosis groups (Metavir score F0-F2), (agreement = 89%, kappa = 0.74, p-value <0.001). SMART AI-PATHO, the first pivotal artificially intelligent diagnostic tool for the color-based NAFLD hepatic tissue staging in Thailand, demonstrated satisfactory performance as a pathologist to provide liver fibrosis scoring and steatosis grading. In the future, developing AI algorithms and reliable testing on a larger scale may increase accuracy and contribute to telemedicine consultations for general pathologists in clinical practice.

One-stop multi-sensor fusion and multimodal precise quantified traditional Chinese medicine imaging health examination technology

Except for single-mode traditional Chinese medicine imaging techniques such as infrared thermal imaging, the one-stop multimodal whole-body imaging health examination technology and device is still blank. We focus on infrared thermal imaging as the main modality, integrated various modalities of medical imaging intelligent sensing agents such as terahertz imaging. The upper and lower computer and virtual instrument architecture are used, and the imaging data are collected by the lower computers that each is an intelligent sensing agent. The upper computer is used for image reconstruction with intelligent algorithms. Based on the core theory of traditional Chinese medicine, intelligent fusion imaging is achieved through various modalities to achieve the ‘observation, hearing, questioning, and palpation’ four diagnostic integration. We use fractional Fourier transform to filter imaging data, Laplacian pyramid for image fusion. We have proposed an implementation method and process for combining traditional Chinese medicine imaging large language model with knowledge graph, and based on deep learning, we have studied the image and report generation algorithm that combines traditional Chinese medicine pathology and four diagnostic methods with knowledge graph fusion, as well as the traditional Chinese medicine human physiological and pathological interpretation and evaluation system. We have achieved some results, and through further research and development, we can achieve commercial applications.

Cone-Beam Computed Tomography Improves Location of Transbronchial Cryobiopsy in Interstitial Lung Disease with Limited Extent

Introduction: Transbronchial lung cryobiopsy has been recommended as an acceptable alternative to surgical approach for making a histopathological diagnosis in patients with interstitial lung disease (ILD) of undetermined type. In limited diseases (especially if distributed along the subpleural region), sampling the specific area in which the pathological process is more represented could be challenging. Aim of the study was to determine the potential benefit of utilizing cone-beam computed tomography-guided cryobiopsy in patients with limited extent of ILD on CT scan and determine the single impact of each sequential biopsy progressively increasing the total number of biopsies. Methods: This study is a prospective analysis of patients with undetermined ILD and CT scan extent <15% undergoing cone-beam CT-guided cryobiopsy. Each biopsy sample was collected and processed individually and pathologic interpretations were performed sequentially with the pathologist reformulating a new report with the addition of each sample (cumulative yield). Results: Thirty six patients were enrolled. Pathological diagnostic yield was >90%, with almost 80% of diagnostic samples being the first one; when a second biopsy was performed, mean diagnostic yield increased with only a moderately significant difference. No severe adverse events were observed; pneumothorax was documented in 27.8% of the cases. Conclusion: Sequential individual collection and pathologic interpretation of each biopsy sample has confirmed the possibility of obtaining a diagnostic specimen at the first pass if transbronchial cryobiopsy is performed under cone-beam CT.

Prevalence of Squamous Cell Carcinoma of The Tongue In Dr. Hasan Sadikin General Hospital During 2017 – 2022

Introduction: Squamous cell carcinoma is the most common malignant neoplasm in the oral cavity, accounting for 90% of all malignancies in the oral cavity. Exposure of the oral epithelium to carcinogenic substances can cause squamous cell carcinoma. This study was show the prevalence of squamous cell carcinoma of the tongue in West Java which is used as education for the prevention of squamous cell carcinoma of the tongue. Purpose: This research is a descriptive study and carried out using purposive sampling method. The sample in this study were patients with a diagnosis of squamous cell carcinoma of the tongue at Dr. Hasan Sadikin Hospital Bandung during January 2017 - January 2022 who had been confirmed by histopathological examination results. Data analysis will be carried out on secondary data from collected medical records and the results of the pathologist's interpretation, then the results of the data analysis will be arranged and presented in tabular and percentage form. Methods: The data obtained were 218 cases. Based on age, the most patients were in the age group above 48 years (58%). Based on gender criteria, it shows more women (57%). Based on domicile criteria, the highest domicile was in Bandung (38%). Based on family history criteria, there were 215 patients with no family history or 99%. Based on the predisposing factor criteria, it shows more patients with a history of chronic irritation (48%). Based on the mass size criteria, it shows more patients with mass size T4 (60%). Based on KGB criteria, it shows more patient showed N1 lymph nodes involvement (63%). Based on tumor metastasis criteria, it shows more patients with Mx tumor metastasis (50%). Based on the therapy status criteria, it shows more patients with combined therapy (32%). Results: Type the result of your research, including statistical analysis. Conclusion: Patients suffering from squamous cell carcinoma in the tongue are mostly patients over 48 years old with female gender who live in Bandung City, West Java, and have no family history but have predilection factors such as irritation and infection. The size of the tumor mass in patients with squamous cell carcinoma mostly has a mass size &gt; 3 cm, with lymph node involvement mostly on the ipsilateral with a size &lt; 3 cm and metastasis to other organs is difficult to assess due to lack of supporting modalities. The therapy received was mostly combined therapy (surgery and chemotherapy or radiotherapy) Keywords: Squamous cell carcinoma of the tongue, prevalence, patient characteristics

Establishment of urinary catheter materials antibacterial efficacy evaluation platform in pigs

Urinary catheters are one of the common invasive medical catheters, mostly composed of high-polymer materials such as polyurethanes. During clinical use, the high friction between the catheter material surface and tissues can lead to tissue damage, patient discomfort, and pain during insertion or removal. Moreover, due to the hydrophobic nature of the polymer material surface, there is a risk of urinary tract infections (CTIs) caused by problems such as protein adsorption and bacterial infection upon insertion into the body. Prolonged indwelling time of urinary catheters in the body increases the probability of other complications, potentially leading to life-threatening consequences and imposing medical burdens. Therefore, the purpose of this study was focused on the insertion of the Escherichia coli (E. coli, 1 × 105 CFU/mL)-coated urinary catheter to implant into a female pig’s urethra for establishing the urinary catheter materials antibacterial efficacy evaluation platform in pigs. Results were shown that during the experimental period, the week 1 and week 2 average pig’ body temperature were 39.4 ± 0.6°C and 39.1 ± 0.2°C, respectively. The average pig’s body temperature was normal and there was no significant differences in body temperature at week 1 and week 2 urinary catheter implanted-experiment period. Moreover, the clinical observation of the pigs showed that their vitality, appetite, and excretion were all normal, and they survived until the end of the experiment without presenting any abnormal clinical symptoms. In addition, E. coli in urine culture respectively showed 0.95 ± 0.03 × 105 CFU/mL, 1.23 ± 0.03 × 105 CFU/mL, 1.43 ± 0.04 × 105 CFU/mL, 1.75 ± 0.08 × 105 CFU/mL, and 1.91 ± 0.09 × 105 CFU/mL on day 0, 3, 7, 10, and 14 of urinary catheter implantation. As time progressed after urinary catheter implantation, there was an increasing trend in E. coli counts. Staining with crystal violet for urinary catheter showed that the urinary catheter wall was positive for crystal violet staining. E. coli isolation and counts from biofilm on inside and outside of urinary catheter respectively showed 5.10 ± 0.10 × 105 CFU/mL and 7.50 ± 1.08 × 105 CFU/mL on day 14 of urinary catheter implantation. As time progressed after urinary catheter implantation, there was an increasing trend in E. coli counts. Finally, the pathological interpretation of the urinary tract indicates that in the tissue morphology of the bladder, there is observed a localized mild shedding of superficial and intermediate layer cells in the transitional epithelium of the ureteral stent group, with only basal cells remaining connected to its submucosa. There are no significant pathological changes observed in the tissue morphology of the urethra and kidneys. According to the results of this study, a urinary catheter materials antibacterial efficacy evaluation platform in pigs has successfully established, which can be provided for R&amp;D of urinary catheter antibacterial materials.

Post-blast histological changes to three animal bones exposed to close-range chemical detonation.

A range of investigative practices to aid explosive-related death investigations currently exist, although the use of histopathological bone samples to diagnose blast exposure and the distance of individuals from the blast source has not been previously reported. Forensic histopathology has been used effectively on soft tissue samples to define blast-related injuries effectively, analysing human organs such as the lungs, brain, liver, and skeletal muscles, providing important and useful forensic pathology interpretations. However, no studies currently exist examining the post-blast histological changes in human or animal bones subjected to blasts for forensic pathology practice, despite the opportunity that hard tissue bone samples present, given their significantly lower rate of decomposition over soft tissue. This study presents the first evidence-based findings on the post-blast histological changes in three animal bones when exposed to close-range chemical detonation (C4). The study's qualitative findings highlight critical changes in the tissue architecture of three different animal bone sources due to blast effects with range from the blast source. This emphasises the potential use of histopathological bone sample analysis in future blast-related death investigations, while providing ideas to further explore this work using larger-scale experiments and post-blast case studies in aid of applying this work to human samples and forensic pathology practice.

Reproducing the normal and the pathological in personalized cancer medicine clinical trials

AbstractThe medical practice termed Personalized Medicine ideally uses all the patient’s possible characteristics in predicting disease predisposition and response to therapy, but primarily employs the individual’s unique molecular make-up in the tailoring of treatment. This change in medical practice also entails an epistemic shift towards ‘molecularization’: individuals and disease are now understood and governed through life’s basic building blocks. In this paper we argue that underlying personalized medicine is a continued understanding of the pathological state as a quantitative deviation from a normal state. In this we build on the critique of French philosopher Georges Canguilhem who positioned the quantitative interpretation of the pathological in nineteenth century medical thinking. Personalized cancer medicine takes each patient’s cancer as singular, implying that there is no ‘normal’ baseline for comparing individual pathology. We analyze cases of personalized cancer clinical trials from recent years to show that each displays a quantitative understanding of the pathological reminiscent of past thinking in two main modes: a molecularized interpretation of cancer pathology and a quantitative measuring of targeted therapy efficacy. We situate the analysis in broader discussions of historical medical shifts and in current studies of personalized medicine, to outline implications of this form of continuity.

Artificial intelligence (AI) -powered H&amp;E whole-slide image (WSI) analysis of tertiary lymphoid structure (TLS) to predict response to immunotherapy in non-small cell lung cancer (NSCLC).

3135 Background: Recent data indicate that immune cells present in the TLS within the tumor microenvironment (TME) could potentially serve as a favorable predictor for immune checkpoint inhibitor (ICI) therapy. To examine this further, AI model was created to provide an assessment of TLS in H&amp;E WSI, and to determine its correlation with survival outcomes of NSCLC patients treated with ICI. Methods: We collected H&amp;E-stained WSI of primary and metastatic tumors and clinical data in a retrospective study of advanced-stage NSCLC patients treated with ICI (with or without chemotherapy) at Northwestern University from May 2015 to November 2022. When evaluating the TLS status in the biopsy specimen collected from the lymph nodes (LNs), TLSs were only considered if they were admixed with tumor cells and located distant from the residual parenchyma, ensuring the exclusion of innate lymphoid follicles. Following the assessment of the presence of TLS by a pathologist, the identical WSIs were evaluated by the AI-powered H&amp;E WSI analyzer. We used Lunit SCOPE IO, an AI-powered H&amp;E WSI analyzer developed using 21,096 H&amp;E stained WSIs, which can segment various classes of tissue area including TLS within the TME. Survival analysis was performed using Kaplan-Meier curves, and differences in survival outcomes among TLS groups were evaluated using the log-rank test. Results: In this analysis, out of a total of 73 patients, 24 (33%) cases were identified as containing TLS (TLS +) by the AI analyzer. In contrast, the pathologist classified 17 (23%) cases as TLS+. The AI model demonstrated an accuracy of 84.9% (with a sensitivity of 88.2% and specificity of 83.9%) in identifying the presence of TLS compared to the pathologist's interpretation. The median value of the proportion of TLS area within TME (TLSP) in samples containing TLS was 0.418% (Q1: 0.228%, Q3: 1.311%). TLSP was not found to be correlated with survival outcomes. The number of clusters of TLS was not found to be correlated with survival outcomes. Conclusions: AI-powered TLS analysis can be potentially utilized as a predictive biomarker of survival outcomes of NSCLC patients treated with ICI. [Table: see text]

Revolutionizing Healthcare with AI: Innovative Strategies in Cancer Medicine

By improving early detection, diagnosis, treatment planning, and patient management, artificial intelligence (AI) is transforming the way that cancer is treated. An overview of AI's function in cancer is given in this article, with special attention to how it advances precision medicine and improves patient outcomes. Numerous AI applications are discussed, such as predictive analytics, pathology interpretation, genetic profiling, and medical imaging analysis. Case studies highlight effective AI applications in cancer care, showcasing the technology's effectiveness in enhancing the precision of diagnoses, directing individualized treatment choices, and tracking treatment response. The paper delves into the possible advancements in early identification, therapy optimization, and patient engagement through an exploration of future directions and innovations in AI-driven oncology research. The conclusion emphasizes how AI has the ability to completely change the way cancer is treated and enhance the lives of cancer sufferers all over the world.

The use of telepathology in veterinary medicine: a scoping review.

Telepathology, as a subset of teleconsulting, is pathology interpretation performed at a distance. Telepathology is not a new phenomenon, but since ~2015, significant advances in information technology and telecommunications coupled with the pandemic have led to unprecedented sophistication, accessibility, and use of telepathology in human and veterinary medicine. Furthermore, telepathology can connect veterinary practices to distant laboratories and provide support for underserved animals and communities. Through our scoping review, we provide an overview of how telepathology is being used in veterinary medicine, identify gaps in the literature, and highlight future areas of research and service development. We searched MEDLINE, CAB Abstracts, and the gray literature, and included all relevant literature. Despite the widespread use of digital microscopy in large veterinary diagnostic laboratories, we identified a paucity of literature describing the use of telepathology in veterinary medicine, with a significant gap in studies addressing the validation of whole-slide imaging for primary diagnosis. Underutilization of telepathology to support postmortem examinations conducted in the field was also identified, which indicates a potential area for service development. The use of telepathology is increasing in veterinary medicine, and pathologists must keep pace with the changing technology, ensure the validation of innovative technologies, and identify novel uses to advance the profession.

The eye in forensic practice: In the dead.

Post-mortem examination of the eye provides valuable forensic information yet is often overlooked. This brief review focuses on determining the cause/manner of death and post-mortem interval. External eye findings like corneal haziness and tache noire, combined with post-mortem changes in the iris, lens, retina and vitreous humour, can help estimate time since death. Ocular biometrics (iris/retinal scans) may facilitate identification. Age-related ocular changes can provide insights. The eye offers clues into personality (corneal tattooing, trichotillomania) and cause of death (petechiae in strangulation, retinal haemorrhages in abusive head trauma). Ocular trauma and underlying eye disease may be evident. Toxicology of vitreous humour can detect drugs/poisons. As a window into systemic disease and age-related changes, the eye aids pathology interpretations and, accordingly, post-mortem examinations have value. Ocular findings should not be overlooked in forensic examinations as they provide distinct information in determining cause/manner of death and post-mortem interval.

(223) - How Well Does the Molecular Microscope Diagnostic System (MMDx) Correlate with Traditional Pathologic Biopsy Interpretation in a Pediatric Heart Transplant Population?

(223) - How Well Does the Molecular Microscope Diagnostic System (MMDx) Correlate with Traditional Pathologic Biopsy Interpretation in a Pediatric Heart Transplant Population?

Renal Sinus Pathologies Depicted by CT Imaging: A Pictorial Review.

Diverse conditions comprise the spectrum of renal sinus pathologies, which have diagnostic and therapeutic implications for patients. Using CTimaging as a lens, this exhaustive review examines the representation of these pathologies. The article begins with a concise synopsis of renal anatomy and the specialized CTmethodologies utilized to achieve excellent visualization. Transformational cell carcinoma, leiomyosarcoma, renal cell carcinoma, multilocular nephroma, and lymphoma are among the tumoral origins of the renal sinus pathologies that are investigated. Further, vascular pathologies including fistulas, hematomas, and aneurysms are included in the discourse, along with parapelvic and peripelvic cysts, and lipomatosis. In addition to urolithiasis and encrusted uretero-pyelitis, the review examines the consequences of metal toxicity and non-neoplastic conditions. With a focus on critical CT imaging findings that aid in the provision of an accurate diagnosis, every pathology is meticulously examined. With the intention of improving clinical decision-making and patient care, this article intends to function as a valuable resource for radiologists, clinicians, and researchers who are engaged in the interpretation and comprehension of renal sinus pathologies.

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.

We aim to report the ocular phenotype and molecular genetic findings in two Czech families with Sorsby fundus dystrophy and to review all the reported TIMP3 pathogenic variants. Two probands with Sorsby fundus dystrophy and three first-degree relatives underwent ocular examination and retinal imaging, including optical coherence tomography angiography. The DNA of the first proband was screened using a targeted ocular gene panel, while, in the second proband, direct sequencing of the TIMP3 coding region was performed. Sanger sequencing was also used for segregation analysis within the families. All the previously reported TIMP3 variants were reviewed using the American College of Medical Genetics and the Association for Molecular Pathology interpretation framework. A novel heterozygous variant, c.455A>G p.(Tyr152Cys), in TIMP3 was identified in both families and potentially de novo in one. Optical coherence tomography angiography documented in one patient the development of a choroidal neovascular membrane at 54 years. Including this study, 23 heterozygous variants in TIMP3 have been reported as disease-causing. Application of gene-specific criteria denoted eleven variants as pathogenic, eleven as likely pathogenic, and one as a variant of unknown significance. Our study expands the spectrum of TIMP3 pathogenic variants and highlights the importance of optical coherence tomography angiography for early detection of choroidal neovascular membranes.