Tool For Disease Assessment Research Articles

Study the Relationship of MDCT Staging in Disease Extent with the Systemic Sclerosis Disease Parameters.

The highest incidence of death in systemic sclerosis due to pulmonary disease raises the need for early detection and treatment. The study aim is the assessment of interstitial pulmonary disease by Multi Detector High Resolution CT (MDCT) and finds its relationship with the other disease parameters and the Pulmonary Function tests (PFT). A prospective cross-sectional study was performed in Assiut University Hospitals from May 2018 to January 2020 and included 62 consecutive SSc female patients. Demographic, clinical, Laboratory, PFT and MDCT assessment were conducted for all participants. The coarseness of fibrosis was 8.32 (range 0.0-17), the average proportion of ground-glass opacification was 28.3% (range, 0.0%-75%). Honey-comb pattern was seen in (52.5%). Mean Extent of disease was 46.25±3.7 (range 5-81). Restrictive deficit found in 42 patients. Significant relation was found between the extent of disease and the percentage predicted FVC (r=0.373, p 0.018) and FEV1/FVC (r=0.593, p 0.000) and coarseness of fibrosis and proportion of ground glass opacification correlated inversely with VC (r=-0.385, p=0.014, r=-0.376, p=0.017 respectively), Rayanud's phenomena, modified Rodnan Skin Score and Medsger's general are positively correlated with MDCT disease extent. Scoring of systemic sclerosis (SSc) related interstitial lung disease (SSc-ILD) could be applicable as one of the important tools for disease assessment.

Study the Relationship of MDCT Staging in Disease Extent with the Systemic Sclerosis Disease Parameters

Background and objectivesThe highest incidence of death in systemic sclerosis due to pulmonary disease raises the need for early detection and treatment. The study aim is the assessment of interstitial pulmonary disease by Multi Detector High Resolution CT (MDCT) and finds its relationship with the other disease parameters and the Pulmonary Function tests (PFT). Patients and methodsA prospective cross-sectional study was performed in Assiut University Hospitals from May 2018 to January 2020 and included 62 consecutive SSc female patients. Demographic, clinical, Laboratory, PFT and MDCT assessment were conducted for all participants. ResultsThe coarseness of fibrosis was 8.32 (range 0.0–17), the average proportion of ground-glass opacification was 28.3% (range, 0.0%–75%). Honey-comb pattern was seen in (52.5%). Mean Extent of disease was 46.25±3.7 (range 5–81). Restrictive deficit found in 42 patients. Significant relation was found between the extent of disease and the percentage predicted FVC (r=0.373, p 0.018) and FEV1/FVC (r=0.593, p 0.000) and coarseness of fibrosis and proportion of ground glass opacification correlated inversely with VC (r=−0.385, p=0.014, r=−0.376, p=0.017 respectively), Rayanud's phenomena, modified Rodnan Skin Score and Medsger's general are positively correlated with MDCT disease extent. ConclusionScoring of systemic sclerosis (SSc) related interstitial lung disease (SSc-ILD) could be applicable as one of the important tools for disease assessment.

Serum Levels of Selected IL-1 Family Cytokines in Patients with Morphea.

Morphea/localized scleroderma (LoS) represents an inflammatory-sclerotic skin disease, the pathogenesis of which is not fully understood. Given the important role of IL-1 family cytokines in the development and therapy of inflammatory diseases, including systemic sclerosis, we analyzed the clinical significance of serum levels of selected IL-1 family cytokines (IL-1α, IL-1β, IL-18, IL-33, IL-37 and IL-38) in LoS patients (n = 30) using the standardized disease assessment tools and comparison to healthy controls (n = 28). We also compared the pre- and post-treatment concentrations, i.e., before and after systemic (glucocorticosteroids and/or methotrexate) and/or topical (topical glucocorticosteroids and/or calcineurin inhibitors). Our findings did not reveal significant differences in baseline IL-1α, IL-1β, IL-18, IL-33, IL-37 and IL-38 levels between LoS group and HCs; however, after treatment, there were marked changes in concentrations of IL-1α and IL-33 within LoS group as well as in comparison to HCs. We also found significant negative correlations between PGA-A and IL-1α concentration as well as between mLoSSI and IL-1α after treatment. Furthermore, we showed an inverse correlation of baseline IL-1β levels with mLoSSI scores of borderline significance. We believe that IL-1α and IL-33, as well as Il-1β, may be potential mediators and targets of interest in LoS.

Updated Role of High-frequency Ultrasound in Assessing Dermatological Manifestations in Autoimmune Skin Diseases.

Autoimmune skin diseases are a group of disorders that arise due to the dysregulated immune system attacking self-antigens, causing multiple tissue and organ lesions. With disease progression, the physical and psychological health of patients may be seriously damaged. High-frequency ultrasound is non-invasive, reproducible, and suitable for visualizing the fine structure of external organs. The usage of high-frequency ultrasound has increased in recent years in the auxiliary diagnosis and monitoring of various skin diseases; it serves as a promising tool for dermatological disease assessment. This review summarizes the characteristics of high-frequency ultrasound imaging in common autoimmune skin diseases, including systemic lupus erythematosus, scleroderma, psoriasis, dermatomyositis, and pemphigus/pemphigoid. The objective of this review is to provide new ideas and strategies for dermatologists to diagnose and track the prognosis of autoimmune skin diseases.

Finding Waldo: The Evolving Paradigm of Circulating Tumor DNA (ctDNA)-Guided Minimal Residual Disease (MRD) Assessment in Colorectal Cancer (CRC).

Simple SummaryAfter the surgical removal of colorectal cancer (CRC), residual cancer cells undetectable by standard blood tests and imaging studies are responsible for cancer recurrence. Currently, chemotherapy is often administered after surgery to eradicate residual cancer cells, a decision guided by clinical and pathologic criteria, which are imprecise. Circulating tumor DNA (ctDNA) consists of DNA fragments in the bloodstream derived from cancer cells, and the presence of ctDNA likely indicates the presence of residual cancer cells. The current article discusses how ctDNA technology can help guide treatment in patients with CRC after curative surgery.Circulating tumor DNA (ctDNA), the tumor-derived cell-free DNA fragments in the bloodstream carrying tumor-specific genetic and epigenetic alterations, represents an emerging novel tool for minimal residual disease (MRD) assessment in patients with resected colorectal cancer (CRC). For many decades, precise risk-stratification following curative-intent colorectal surgery has remained an enduring challenge. The current risk stratification strategy relies on clinicopathologic characteristics of the tumors that lacks precision and results in over-and undertreatment in a significant proportion of patients. Consequently, a biomarker that can reliably identify patients harboring MRD would be of critical importance in refining patient selection for adjuvant therapy. Several prospective cohort studies have provided compelling data suggesting that ctDNA could be a robust biomarker for MRD that outperforms all existing clinicopathologic criteria. Numerous clinical trials are currently underway to validate the ctDNA-guided MRD assessment and adjuvant treatment strategies. Once validated, the ctDNA technology will likely transform the adjuvant therapy paradigm of colorectal cancer, supporting ctDNA-guided treatment escalation and de-escalation. The current article presents a comprehensive overview of the published studies supporting the utility of ctDNA for MRD assessment in patients with CRC. We also discuss ongoing ctDNA-guided adjuvant clinical trials that will likely shape future adjuvant therapy strategies for patients with CRC.

Correlation of clinical parameters and objective assessment tools in active thyroid eye disease – Prospective analytical study

Primary objective of this study was to identify the disease in active phase, clinically assess it and start medical management. Secondary objective was to analyze whether the objective tools like B-scan and serum levels of IL-6 and HS-CRP aid in the diagnosis of activity in thyroid eye disease. : The aim wasto analyze the correlation of clinical parameters and significance of objective assessment tools in active thyroid eye disease. Clinically diagnosed cases of TED with lid signs, soft tissue changes, restrictive myopathy and bilateral axial proptosis were included in our study. Patients in chronic stable phase were excluded from study. This was a prospective analytical study, conducted from June 2010 till June 2012. Sample size was thirty patients in the age group of 20 to 60 years. Complete ophthalmology workup and objective disease assessment tools including B scan (OTI 1000 with 7.5-10 MHz) was used in our study. All patients underwent CT scan orbit-axial and coronal view. After assessing the severity and stage of the disease, each patient was managed accordingly using different modalities. : Identifying the disease activity early and aggressive management with systemic steroids in moderately active and severe stage has decreased the morbidity associated with the disease. A- scan with orbital B-scan helps in diagnosing the activity in thyroid eye disease. This procedure is very economical with relatively short examination time and no risk of radiation .Follow up of the patients can also be performed easily. IL-6 and HS-CRP was statistically significantly elevated in patients with severe disease when compared to control group. Hence can help in assessing disease activity in patients with severe disease.

A feature fusion sequence learning approach for quantitative analysis of tremor symptoms based on digital handwriting

Essential tremor and Parkinson's disease are common movement disorders, and early diagnosis and evaluation are critical to managing these diseases. Currently, laboratory tests are the only way to diagnose and assess tremor symptoms. Analysis of a patient's fine motor control, especially handwriting, is a powerful tool for disease assessment. However, traditional visual assessment methods by neurologists typically lead to biased diagnostic results due to some subjective factors. Therefore, it is necessary to automatically identify and quantify the captured motion events with the help of artificial intelligence in combination with the various dynamic attributes encapsulated in the digital ink features, such as pen pressure, stroke speed, handwriting variability, etc. In this paper, a novel Transformer deep-learning model is developed for sequence learning of electronic handwriting to effectively evaluate its potential in aiding the diagnosis of tremor symptoms. The one-dimensional convolution with an ingenious fusion attention mechanism is applied to the original pen sensor signal sequences and derived features are used as the embedding layer of the Transformer encoder part, and the global dynamic features are fused before the decision layer. Our proposed system performs excellent on private datasets and outperforms state-of-the-art methods on the PaHaW dataset.

Inflammatory Bowel Disease-related Spondyloarthritis: The Last Unexplored Territory of Rheumatology.

The Spondyloarthritides (SpA) are a group of chronic inflammatory d iseases a ffecting th e spine, peripheral joints and entheses, as well as extra-skeletal structures, including the gastrointestinal tract. On the other hand, inflammatory b owel d isease (IBD), e ither Crohn’s d isease o r ulcerative colitis, often affects extra-intestinal sites, including the axial and/or peripheral skeleton. IBD-related arthritis is the type of SpA that occurs in patients affected by IBD, with an incidence up to 50% during the IBD course. Although both manifestations are apparently the result of a common pathogenetic process, physicians often fail to recognize the disease in its entirety: thus, IBD-SpA is managed as two separate diseases, a musculoskeletal and a gastrointestinal one, with a profound impact on patient quality of life. Moreover, the specialty of the treating physician determines the clinical and laboratory tools for disease assessment, which, in turn, guide treatment decisions that may overlook either affected system or even act in the opposite direction. Raising awareness of the intestinal and musculoskeletal manifestations among rheumatologists and gastroenterologists will lead to earlier diagnosis and a multidisciplinary approach, particularly regarding pharmacologic treatments. Given the lack of trial evidence on immunomodulatory drugs in IBD-SpA it is imperative for researchers in both medical disciplines to join efforts, in order to determine referral strategies, appropriate composite measures for disease assessment, treatment algorithms and therapeutic targets.

Differential tractography as a dynamic imaging biomarker: A methodological pilot study for Huntington’s disease

Huntington’s disease (HD) is a neurodegenerative disorder characterized by motor, psychiatric, and cognitive symptoms. Due to its diverse manifestations, the scientific community has long recognized the need for sensitive, objective, individualized, and dynamic disease assessment tools. We examined the feasibility of Differential Tractography as a biomarker to evaluate correlation of symptom severity and of HD progression at the individual level. Differential tractography is a novel tractography modality that maps pathways with axonal injury characterized by a decrease of anisotropic diffusion pattern. We recruited sixteen patients scanned at 0-, 6-, and 12-month intervals by diffusion MRI scans for differential tractography assessment and correlated its volumetric findings with the Unified Huntington’s Disease Rating Scale (UHDRS). Deterministic fiber tracking algorithm was applied. Longitudinal data was modeled using the generalized estimating equation (GEE) model and correlated with UHDRS scores, in addition to Spearman correlation for cross-sectional data. Our results show that volumes of affected pathways revealed by differential tractography significantly correlated with UHDRS scores in longitudinal data (p-value < 0.001), and chronological changes in differential tractography also correlated with the changes in UHDRS (p-value < 0.001). This technique opens new clinical avenues as a clinical translational tool to evaluate presymptomatic and symptomatic gene positive individuals. Our results provide support that differential tractography has the potential to be used as a dynamic imaging biomarker to assess at the individual level in a non-invasive manner, disease progression in HD. Critically important, differential tractography proves to be a quantitative tool for following degeneration in presymptomatic patients, with potential applications in clinical trials.

Fatty Liver Disease: Diagnosis and Stratification.

Nonalcoholic fatty liver disease (NAFLD) is a major public health crisis affecting approximately 25% of the world's population. The spectrum of NAFLD ranges from bland steatosis to steatohepatitis with fibrosis; eventual development of cirrhosis in a subgroup of patients now represents the leading indication for liver transplant in women and in individuals older than 65. The development of noninvasive liver disease assessment tools has led to substantial progress in the diagnosis of NAFLD. Patients with NAFLD are at increased risk of cardiometabolic disease, which should therefore be an important part of the therapeutic approach. This review focuses on diagnosis and risk stratification of NAFLD across the full spectrum of disease, including important considerations in the approach to patients with cirrhosis.

The feasibility of T2 mapping in the assessment of hepatic steatosis, inflammation, and fibrosis in patients with non-alcoholic fatty liver disease: a preliminary study

To determine the feasibility of magnetic resonance imaging T2 mapping in the quantification of liver steatosis in patients with biopsy-proven non-alcoholic fatty liver disease (NAFLD), and to assess the effect of inflammation and fibrosis on T2 values of the liver. Twenty-three consecutive patients with biopsy-proven NAFLD who underwent T2 mapping between December 2013 and September 2014 were included in this study. All patients underwent fast spin echo multi-echo sequence with eight echoes for T2 measurements. The mean liver T2 value and percentage of histological steatosis was 64.9±7.4 ms and 46.5±27.6%, respectively. There was a good correlation between the liver T2 value and histology-determined steatosis (r = 0.780, p<0.001) and grade of steatosis (rs=0.779, p<0.001). The mean T2 value in patients with definitive non-alcoholic steatohepatitis (NASH) was significantly higher in comparison with patients without NASH (69±7.37 versus 61.73±5.99 ms, p=0.016). The correlation between T2 value and NAFLD activity score (NAS) was significant (rs=0.443, p=0.034); however, the correlation disappeared after adjustment for hepatic steatosis and fibrosis (r=0.131, p=0.572). There was a close inverse correlation between T2 value and fibrosis stage after adjusting for hepatic steatosis (r=-0.536, p=0.012). T2 mapping can be used for quantification of hepatic steatosis, as there is a close correlation between T2 relaxation values and histology-determined steatosis. Patients with definite NASH have increased T2 values and there is an inverse correlation between the T2 value and fibrosis stage of the liver. T2 mapping in NAFLD may be a useful clinical tool for disease assessment and prognostication.

POS0039 MRI LESIONS IN SPA: A COMPARISON WITH AGE AND SEX MATCHED PARTICIPANTS WITH NON-INFLAMMATORY BACK PAIN

Background:Magnetic resonance imaging (MRI) is becoming increasingly important in axial spondyloarthritis (SpA) due to its unique role in early diagnosis, classification, and monitoring of disease (1, 2). It is the only disease assessment tool that has been validated with histological inflammatory cellularity in tissue biopsy of the sacroiliac (SI) joint (3). However, many MRI lesions are not exclusive to axial SpA and may occur in other conditions such as infection, degeneration and malignancy. Further characterization of these lesions may guide more targeted therapies.Objectives:The objective of this study was to describe, investigate associated factors, and to compare individual MRI lesions with age and sex matched controls.Methods:This was a cross-sectional observational study of MRI lesions of 431 participants with axial SpA compared with 53 age and sex matched participants with non-inflammatory back pain. Individual lesions identified included: discovertebral lesions (DVL), facet joint lesions, costovertebral joint lesions, corner inflammatory lesions (CIL), and fatty corner lesions (FCL). Associated factors of the lesions were determined by regression analyses.Results:Compared to the control group, participants with axial SpA had more costovertebral lesions (12.5% vs 1.9%; p=0.02), CIL (46.6% vs 15.1%; p=0.03), and FCL (55.5% vs 39.6%; p=0.03). Multivariate regression showed that age (OR=1.02; p=0.03), regular alcohol use (OR=0.40; p=0.04) and radiographic axial SpA (OR=1.89; p=0.01) were associated with DVL; Chinese ethnicity (OR=0.06; p=0.01) and radiographic axial SpA (OR=3.63; p=0.01) were associated with facet joint lesion; radiographic axial SpA (OR=4.26; p&lt;0.001) was associated with costovertebral joint lesion; male gender (ß=1.10; p=0.01), HLA B27 (ß=1.02; p=0.02), and radiographic axial SpA (ß=1.05; p=0.01) were associated with CIL; age (ß=0.10; p&lt;0.01), male gender (ß=1.96; p=0.01), body weight (ß=0.11; p&lt;0.01), HLA B27 (ß=3.23; p&lt;0.001), and radiographic axial SpA (ß=1.77; p=0.02) were associated with FCL.Conclusion:The individual MRI lesions more specific to axial SpA when compared to non-inflammatory back pain were costovertebral joint lesions, CIL, and FCL.

Development of an Instrument for Patient Self-assessment in Psoriatic Arthritis.

Due to the recent pandemic caused by the coronavirus disease 2019 (COVID-19), in-person scheduled rheumatology appointments in many countries have been reserved for urgent cases only. Here we report the development of a multidimensional, patient-completed disease assessment tool for use in psoriatic arthritis (PsA). A focus group development and education method was used, followed by a paired observation design to assess feasibility and validity. The Psoriatic Arthritis Disease Activity Score (PASDAS) was used as the basis for the clinical assessments, but elements of this tool were modified during the focus group sessions. A preliminary tool assessed tender and swollen joint counts, enthesitis, dactylitis, area of skin involved by psoriasis, and scores for global disease activity, fatigue, and spinal pain. In parallel assessments, good agreement was found between subject and healthcare professional (HCP) assessors, although overall disease activity was low. A self-assessment tool for disease activity in PsA has been developed in conjunction with patients, demonstrating generally good agreement between patients and HCPs; however, further validation is needed before it can be recommended for clinical practice.

Development of a high-throughput plant disease symptom severity assessment tool using machine learning image analysis and integrated geolocation

Tomato spotted wilt virus (TSWV) has the potential to cause severe yield losses in peanut (Arachis hypogaea L.), an important annual legume grown around the world. The most effective approach to manage the disease caused by TSWV is to grow disease resistant peanut varieties. One of the key challenges to breeding for disease resistance is to develop an accurate, reproducible and efficient disease assessment method. Accurate field-based assessment of disease incidence and severity is technically challenging and time-consuming. To address this challenge, a field-based, high-throughput assessment tool was developed to quantify the spatial distribution of disease symptoms over experimental peanut plots using a Real Time Kinematic Global Positioning System (RTK-GPS), consumer-grade cameras, a microcontroller, and an open-source machine learning software. A field experiment was designed to establish a range of disease incidence and severity scenarios. This field experiment was imaged for two seasons to develop and validate the tool. Using transfer learning, an existing Convolutional Neural Network (CNN) was trained from supervised training imagery to classify and quantify areas within the plot-level imagery as, symptomatic, asymptomatic, or ground. Multiple images were assessed by the machine learning model and georeferenced to individual experimental plots using RTK-GPS data. The CNN model trained to detect the symptom, “stunting and mottling”, was evaluated using Receiver Operating Characteristic (ROC) curve analysis and yielded an Area Under the Curve (AUC) of 0.97, sensitivity of 0.77, and specificity of 0.98 on the test set. Results from the disease assessment tool were compared with results from visual disease assessments, conducted by a trained plant pathologist. Field plot level means from CNN-based assessment of stunting and mottling correlated with plot level means from visual assessment of severity (r = 0.78; P < 0.0001). To further validate the CNN-based method, the TSWV field experiment was analyzed using linear mixed models with both visual severity and CNN-based severity assessments used as responses. Both models (visual or CNN-based assessment) identified the same main effects as being significant and post hoc analysis resulted in the same separation of varieties for their severity of TSWV symptoms. The results of this study demonstrate the successful application of this tool for high-throughput disease severity assessment in peanut under field conditions.

Construction of the gene expression subgroups of patients with coronary artery disease through bioinformatics approach.

Coronary artery disease (CAD) is a heterogeneous disease that has placed a heavy burden on public health due to its considerable morbidity, mortality and high costs. Better understanding of the genetic drivers and gene expression clustering behind CAD will be helpful for the development of genetic diagnosis of CAD patients. The transcriptome of 352 CAD patients and 263 normal controls were obtained from the Gene Expression Omnibus (GEO) database. We performed a modified unsupervised machine learning algorithm to group CAD patients. The relationship between gene modules obtained through weighted gene co-expression network analysis (WGCNA) and clinical features was identified by the Pearson correlation analysis. The annotation of gene modules and subgroups was done by the gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis. Three gene expression subgroups with the clustering score of greater than 0.75 were constructed. Subgroup I may experience coronary artery disease of an in-creased severity, while subgroup III is milder. Subgroup I was found to be closely related to the upregulation of the mitochondrial autophagy pathway, whereas the genes of subgroup II were shown to be related to the upregulation of the ribosome pathway. The high expression of APOE, NOS1 and NOS3 in the subgroup I suggested that the patients had more severe coronary artery disease. The construction of genetic subgroups of CAD patients has enabled clinicians to improve their understanding of CAD pathogenesis and provides potential tools for disease diagnosis, classification and assessment of prognosis.

Perspectives on the use of new diagnostic tools in the treatment of chronic lymphocytic leukemia

AbstractRecently, considerable progress has been made in the identification of molecular and cellular markers that may predict the tendency for disease progression in patients with chronic lymphocytic leukemia (CLL) or detect minimal residual disease after therapy. These developments have created uncertainty for clinicians who hope to incorporate the use of these markers and new disease-assessment tools into standard clinical practice. However, clinical trials are required to determine whether poor-prognosis leukemia-cell markers, such as expression of unmutated immunoglobulin genes or the zeta-associated protein of 70 kDa (ZAP-70), can be used as the basis for determining the time or type of therapy. Pending the outcome of such trials, treatment decisions outside the context of a clinical trial still should be based on guidelines established by the most recent National Cancer Institute-sponsored Working Group.

Eosinophilic Esophagitis: Etiology and Therapy.

Eosinophilic esophagitis (EoE) is a relatively recently identified but now frequently encountered antigen/immune-mediated disease which places significant burden on patients and the healthcare system. With its growing prevalence and recognition by healthcare providers in multiple disciplines, substantial progress has been made regarding the diagnostic criteria, clinical evaluation, tools for disease assessment, and immune pathways related to pathogenesis. Current treatment goals focus on the amelioration of inflammation and prevention of remodeling consequences using proton pump inhibitors, swallowed topical steroids, elimination diets, and esophageal dilation. Ongoing research holds promise for more efficacious and targeted therapies as well as a personalized approach to the care of patients with EoE.

Sub-clinical Detection of Left Ventricular Myocardial Dysfunction in Valvular Heart Diseases: A State-of-the-Art Review in a Speckle Tracking Echocardiography and Myocardial Performance

Purpose of the state-of-the-art review: Left ventricular (LV) global longitudinal strain (GLS) is recently recognized as a more sensitive measure of LV myocardial systolic function compared with LV ejection fraction (LVEF). In addition, left ventricular GLS , myocardial performance index (MPI) and maximum rate of LV pressure rise during isovolumetric contraction (LV dP/dtmax) are more reproducible than traditional assessment of LV systolic function by two dimensional echocardiography (2DE) LVEF. These underutilized techniques can detect preclinical myocardial dysfunction in patients who are at risk of LV failure in valvular-induced heart disease . Current guidelines for diagnosis and treatment of valvular heart disease (VHD) include LVEF as one of the parameters to take into consideration in the clinical decision-making. However, a large body of evidence has shown that left ventricular GLS, MPI and LV dP/dtmax have been classically considered as a sensitive marker of LV contractility and inotropic state. In turn GLS and myocardial performance may be a better prognosticator than LVEF in aortic and mitral valve heart diseases. This timely state-of-the-art review, appraised the evidence and role of GLS, MPI and dP/dT as clinical tools in patients with aortic and mitral valve disease. Recent findings: Left ventricular GLS has been shown to be prognostic in low-flow, low-gradient severe aortic stenosis with preserved LVEF. The role of left ventricular GLS, Tei index (MPI) and maximum rate of LV pressure rise (LV dP/dtmax) in patients with aortic regurgitation and mitral valve diseases (regurgitation and stenosis) is less well established. Summary: Echocardiography is considered the primary non-invasive imaging tool for valvular heart disease assessment and the cornerstone method in diagnosing and evaluating the morphology and severity of aortic and mitral valve diseases. Currently, diagnostic-cardiac catheterization is no more recommended except in very rare cases when echocardiographic image quality is suboptimal, non-diagnostic and when the results of 2DE are discrepant with clinical data. Once clinical decision-making is based on the 2DE and three dimensional echocardiographic in assessment of the severity of mitral and aortic valve diseases, it is crucial that standards should be adopted to maintain accuracy and consistency across echocardiographic laboratories. This illustrative review article assesses left ventricular systolic function (LVEF) employing two and/or three dimensional echocardiography in comparison to GLS, MPI and LV dP/dtmax, especially applied for aortic valve (AV) and mitral valve (MV) diseases. It is noteworthy that this document only provides echocardiographic standards rather than making recommendations for clinical management. Conclusion: It is concluded that GLS, MPI and maximum rate of LV pressure rise during isovolumetric contraction (LV dP/dtmax) are recommended and more so, they should be increasingly used to identify subclinical LV myocardial dysfunction in patients with mitral and aortic valve heart diseases, to identify optimal timing for surgery and prognosticate outcomes after surgery

Clinical impact of early minimal residual disease detection at day 15 in precursor B-childhood acute lymphoblastic leukemia: an Egyptian experience

BackgroundChromosomal abnormalities in childhood acute lymphoblastic leukemia (ALL) are well-established prognostic markers and useful tools for minimal residual disease (MRD) assessment. This study aimed to stratify high-risk precursor B-childhood ALL (pre-B-ALL) patients according to standard prognostic factors (age and total leucocytic count), fluorescence in situ hybridization (FISH) analysis for these cytogenetic abnormalities [t (9;22) BCR/ABL, t(1;19)TCF3/PBX1, and 11q23 MLL gene rearrangement], and MRD status at day 15. Besides, we aimed to demonstrate the relation of these prognostic factors (standard and cytogenetic risk groups) to patients’ outcome at day 15 of induction therapy as well as exploring the impact of early MRD assessment during remission induction compared to other prognostic factors together with the ability to tailor investigations as needed especially in places with limited health resources without compromising the outcome. Seventy-two newly-diagnosed Egyptian children with pre-B-ALL, aged 6 months to 15.5 years, registered from February 2016 to February 2018 were included. They were treated according to the modified Children’s Oncology Group (COG) protocol. Patients were classified into (a) standard and high-risk groups according to standard prognostic factors. (b) Patients with the studied cytogenetic abnormalities and patients without the studied cytogenetic abnormalities. (c) Good outcome (negative MRD) and bad outcome (positive MRD) groups according to day 15 MRD status.ResultsThe studied cytogenetic abnormalities were identified in 22.2% of patients, all of them were in the high-risk group, and 75% of them had a bad outcome (positive MRD) at day 15 of induction therapy.ConclusionPatients with favorable presenting features (standard risk) and undetectable MRD after 2 weeks remission induction therapy would not be in need to advanced molecular studies, while these studies should be considered for patients with high-risk presenting features and high levels of MRD after 2 weeks remission induction therapy. Therefore, this could provide a cost-effective guideline in countries suffering from financial challenges without affecting the outcome

One-Step Duplex Droplet Digital PCR for WT1 Overexpression

With the improvement of treatment methods in acute hematology malignancies, the development of sensitive tools for minimal residual disease assessment has become a priority. The monitoring of WT1 expression level by real-time quantitative PCR has been a standard for minimal residual disease evaluation in acute myeloid leukemia and, since 2009, has been optimized through a European LeukemiaNet effort in an established protocol with well-defined clinical end points. Building on the work of the European LeukemiaNet, this article reports the development of a novel, one-step duplex WT1/ABL1 droplet digital assay for WT1 overexpression detection. This assay provides accurate data with high precision and linearity, even at low-template concentration, while retaining strong correlation with the standardized method and therefore maintaining the framework to analyze the results in the context of acute myeloid leukemia patients.