Significant Diagnostic Information Research Articles

Does delayed phase imaging in CT angiography provide additional information in patients with suspected active bleeding?

We hypothesize that delayed phase imaging does not provide additional diagnostic information in patients who undergo multi-phasic CTA for suspected active bleeding. Data on patients who underwent multiphasic CTA (pre-contrast, arterial, porto-venous, and delayed phases) for suspected acute bleed were retrospectively collected between January 2019 and November 2021. CTA images were reviewed by a general radiologist, an interventional radiologist, and a body imaging radiologist independently. Each reader evaluated if delayed phase images provided additional information that would change the final impression of the CTA report. Additional information regarding bleeding location, time needed for delayed image acquisition, and radiation exposure were also obtained. A total of 104 patients with CTAs were analyzed with an average age of 58 years ± 22. Studies rated with absent additional findings on delayed images were 102 (98.1%) by the interventional radiologist, 101 (97.1%) by the body imaging radiologist, and 100 (96.1%) by the general radiologist with percent agreement of 96.15% (kappa 0.54, p < 0.001). All the findings were characterized as unlikely to be clinically significant. Mean time added to complete a delayed phase images was 3.61 ± 3.4min. The average CT dose length product (DLP) for the total exam was 3621.78 ± 2129.57 mGy.cm with delayed acquisition adding a mean DLP of 847.75 ± 508.8 mGy.cm. Delayed phase imaging does not provide significant additional diagnostic information in evaluating patients with suspected active bleeding but is associated with increased examination time and radiation exposure.

Flexible cellulose paper-based biosensor from inkjet printing for non-invasive glucose monitoring

Wearable glucose sensors have attracted significant attention for enabling non-invasive blood glucose measurement without discomfort and risk of infection. However, it is a challenge to simultaneously realize wearable adaptability, biodegradability, and excellent sensing performance. Herein, a cellulose paper-based non-invasive biosensor relying on reverse iontophoresis was designed to detect glucose in interstitial fluid (ISF), and two different enzyme immobilization strategies have been compared. The results showed inkjet-printed cellulose paper-based biosensor (IPB) performances better than the drop-coated cellulose paper-based biosensor (DPB). IPB has twice response current more than DPB in detection range (0–10 mM). In sensitivity, IPB is 1.170 μA/mM three times higher than the DPB (0.376 μA/mM). Besides, IPB's electron-transfer resistance (Rct) is 7.27 kΩ smaller than DPB (Rct = 10.51 kΩ) about 30 %. More importantly, IPB exhibited a good reproducibility (RSD, 4.82 %), which was much less than DPB (RSD, 18.35 %). Furthermore, the IPB realizes noninvasive continuous glucose monitoring over 6 h in volunteer experiments with great analytical performance comparable to commercial devices (Pearson correlation 0.732). Cellulose paper-based glucose sensors with inkjet printing provide non-invasive access to statistically significant diagnostic information, simple and cost-effective, which promotes the application of flexible, wearable, degradable bioelectrodes in continuous glucose monitoring at home, providing a concept for full integration in a compact and portable way in the future.

Implementation of DNA Methylation Array Profiling in Pediatric Central Nervous System Tumors: The AIM BRAIN Project: An Australian and New Zealand Children's Haematology/Oncology Group Study

DNA methylation array profiling for classifying pediatric central nervous system (CNS) tumors is a valuable adjunct to histopathology. However, unbiased prospective and interlaboratory validation studies have been lacking. The AIM BRAIN diagnostic trial involving 11 pediatric cancer centers in Australia and New Zealand was designed to test the feasibility of routine clinical testing and ran in parallel with the Molecular Neuropathology 2.0 (MNP2.0) study at Deutsches Krebsforschungszentrum (German Cancer Research Center). CNS tumors from 269 pediatric patients were prospectively tested on Illumina EPIC arrays, including 104 cases co-enrolled on MNP2.0. Using MNP classifier versions 11b4 and 12.5, we report classifications with a probability score ≥0.90 in 176 of 265 (66.4%) and 213 of 269 (79.2%) cases, respectively. Significant diagnostic information was obtained in 130 of 176 (74%) for 11b4, and 12 of 174 (7%) classifications were discordant with histopathology. Cases prospectively co-enrolled on MNP2.0 gave concordant classifications (99%) and score thresholds (93%), demonstrating excellent test reproducibility and sensitivity. Overall, DNA methylation profiling is a robust single workflow technique with an acceptable diagnostic yield that is considerably enhanced by the extensive subgroup and copy number profile information generated by the platform. The platform has excellent test reproducibility and sensitivity and contributes significantly to CNS tumor diagnosis.

Utility of the coned-down lateral view of the lumbosacral spine

ObjectiveAt certain institutions and radiology practices, a routine lumbar radiographic exam may include 3 views: AP, lateral, and coned-down lateral of the lumbosacral junction. The purpose of this study is to determine whether the third coned-down-lateral view adds significant diagnostic information regarding pathology at the L4-L5 and L5-S1 levels. Materials and methodsThis retrospective study includes patients (n = 74) who had a 3-view radiographic exam of the lumbar spine, as well as a CT or MRI within six months. The AP and lateral views were reviewed by three radiologists, both with and without the use of the third, coned-lateral view. Subsequently, the CT and MRI performed within 6 months was reviewed, and the results compared. The primary outcome was detection of abnormal alignment and disc disease at the L4-L5 and L5-S1 levels. ResultsFor the combined findings of alignment and disc disease at each L4-L5 and L5-S1, there was disagreement between the 2-view and 3-view exams on 18 (of 296) evaluations. Of these 18, the 2-view and the 3-view exam each made positive findings on 9. By the binomial test, there is no evidence that either the 2-view or the 3-view exam tends to make more findings than the other (p = 1). Compared to CT/MRI, the 2-view exam agrees on 74.7 % of evaluations and the 3-view exam agrees on 75.3 %. There is therefore no evidence that the 3-view exam is more accurate than the 2-view exam. ConclusionElimination of the coned-down lateral view could reduce radiation exposure and imaging-related costs while maintaining diagnostic quality.

Characterization of Switch/Sucrose Nonfermenting Complex Proteins and Nestin Expression in a Cohort of Pediatric Central Nervous System Tumors.

Tumors of the central nervous system (CNS) in pediatric patients have undergone significant diagnostic refinement through the use of immunohistochemistry (IHC) and molecular techniques. The utility of these novel IHC antibodies has been demonstrated with the inactivation of the switch/sucrose nonfermenting (SWI/SNF) chromatin-remodeling complex in the diagnosis of atypical teratoid/rhabdoid tumors, predominantly through the loss of integrase interactor 1 (INI1; SMARCB1 ). Alternatively, these tumors may have inactivation of brahma-related gene 1 (BRG1; SMARCA4 ) in a subset of cases. The role of other SWI/SNF component proteins and their expression in pediatric brain tumors is not well established. Nestin, an intermediate filament, has been shown to be present in some pediatric CNS tumors, but of uncertain diagnostic and prognostic significance. We sought to explore the immunohistochemical expression profile for common SWI/SNF subunits and nestin in a pediatric CNS tumor cohort. Using a 118-sample tissue microarray, we performed IHC for INI1, BRG1, brahma (BRM), ARID1A, ARID1B, polybromo 1, and nestin. In 19 cases, INI1 was lost and BRG1 was lost in 2 cases. Interestingly, 6 cases originally diagnosed as primitive neuroectodermal tumors showed isolated loss of BRM. Other SWI/SNF proteins did not provide further diagnostic resolution. Nestin was positive in 76.2% of INI1/BRG1-deficient tumors, compared with 29.1% in INI1/BRG1-intact tumors yielding a sensitivity of 76.2%, specificity of 68.0%, and a P value of <0.001, but nestin positivity did not correlate specifically with poor outcomes. In conclusion, we confirm the utility of BRG1 IHC in the workup of pediatric CNS tumors, which may facilitate a difficult diagnosis when conventional markers are inconclusive, or as a first-line marker in cases where intraoperative smears are suggestive of atypical teratoid/rhabdoid tumor. Although nestin expression was associated with SWI/SNF inactivation, it did not yield statistically significant diagnostic or prognostic information in our study. Interestingly, we identified 6 tumors with isolated BRM IHC loss, the significance of which is uncertain but warrants further investigation.

Cervical spine flexion-extension radiography versus magnetic resonance imaging in pediatric patients following blunt traumatic injury

BackgroundIn pediatric trauma patients, 60–80% of spinal cord injuries involve the cervical vertebrae. While the American College of Radiology offers guidelines for best imaging practices in the setting of acute...

An Effective Method of Detecting Characteristic Points of Impedance Cardiogram Verified in the Clinical Pilot Study.

Accurate and reliable determination of the characteristic points of the impedance cardiogram (ICG) is an important research problem with a growing range of applications in the cardiological diagnostics of patients with heart failure (HF). The shapes of the characteristic waves of the ICG signal and the temporal location of the characteristic points B, C, and X provide significant diagnostic information. On this basis, essential diagnostic cardiological parameters can be determined, such as, e.g., cardiac output (CO) or stroke volume (SV). Although the importance of this problem is obvious, we face many challenges, including noisy signals and the big variability in the morphology, which altogether make the accurate identification of the characteristic points quite difficult. The paper presents an effective method of ICG points identification intended for conducting experimental research in the field of impedance cardiography. Its effectiveness is confirmed in clinical pilot studies.

A Deep Learning Quantification Algorithm for HER2 Scoring of Gastric Cancer.

Gastric cancer is the third most common cause of cancer-related death in the world. Human epidermal growth factor receptor 2 (HER2) positive is an important subtype of gastric cancer, which can provide significant diagnostic information for gastric cancer pathologists. However, pathologists usually use a semi-quantitative assessment method to assign HER2 scores for gastric cancer by repeatedly comparing hematoxylin and eosin (H&E) whole slide images (WSIs) with their HER2 immunohistochemical WSIs one by one under the microscope. It is a repetitive, tedious, and highly subjective process. Additionally, WSIs have billions of pixels in an image, which poses computational challenges to Computer-Aided Diagnosis (CAD) systems. This study proposed a deep learning algorithm for HER2 quantification evaluation of gastric cancer. Different from other studies that use convolutional neural networks for extracting feature maps or pre-processing on WSIs, we proposed a novel automatic HER2 scoring framework in this study. In order to accelerate the computational process, we proposed to use the re-parameterization scheme to separate the training model from the deployment model, which significantly speedup the inference process. To the best of our knowledge, this is the first study to provide a deep learning quantification algorithm for HER2 scoring of gastric cancer to assist the pathologist's diagnosis. Experiment results have demonstrated the effectiveness of our proposed method with an accuracy of 0.94 for the HER2 scoring prediction.

Biochemical markers of connective tissue metabolism in the diagnostics of respiratory diseases in human and animals: retrospective analysis (1984–2010)

The aim: to analyze the literature data for the period from 1984 to 2010 on the use of biochemical markers of disorders of connective tissue metabolism in diseases of the respiratory system in humans and animals.&#x0D; Materials and methods. The research was conducted by the method of scientific literature open source analysis: PubMed, Elsevier, electronic resources of the National Library named after V.I. Vernadsky (1984–2010).&#x0D; Results. In the case of diseases of the respiratory system in humans, the pathogenesis of pneumonia is the development of inflammation in the interstitial, peribronchial, perivascular and perilobular connective tissue, lymphatic vessels of the lungs, followed by involvement of alveoli and bronchioles in the inflammation. The morphological basis of these changes may be pneumofibrosis and pneumosclerotic changes. In the chronic course of pneumonia, chronic obstructive pulmonary disease develops. This pathology is closely related to the action of inflammatory cytokines that regulate connective tissue proliferation. Similar studies were performed on eosinophilic bronchopneumonia in dogs, but the material for the study was bronchoalveolar lavage. The current method of diagnosing respiratory diseases using cytokines (interleukin-4, interferon-γ) and bronchoalveolar lavage has no diagnostic information in chronic bronchitis and bronchial asthma in cats. Fundamental studies of connective tissue biopolymers in clinically healthy and bronchopneumonia piglets have recently been conducted in veterinary medicine.&#x0D; Conclusions. Recently, in medicine of particular interest to researchers is the determination of the content in biological fluids of indicators of connective tissue metabolism (hydroxyproline, glycosaminoglycans, glycoproteins, sialic acids) to diagnose diseases of the respiratory system. To diagnose connective tissue disorders in lung diseases in medical practice use indicators of oxyproline in serum and urine. Oxyproline is one of the most important components of lung collagen. An increase in the content of free oxyproline in the blood indicates an increased rate of collagen breakdown in the lung tissue. Analysis of oxyproline fractions, as indicators of the direction of collagen metabolism, allows to assess the condition of the connective tissue of the lungs and can serve as a prognostic criterion for the course of the disease. Thus, the indicators of connective tissue metabolism showed significant diagnostic information, which allowed to recommend them for use in the practice of veterinary medicine.

Optimizing use of multi-antibody assays for Lyme disease diagnosis: A bioinformatic approach.

Multiple different recombinant and peptide antigens are now available for serodiagnosis of Lyme disease (LD), but optimizing test utilization remains challenging. Since 1995 the Centers for Disease Control and Prevention (CDC) has recommended a 2-tiered serologic approach consisting of a first-tier whole-cell enzyme immunoassay (EIA) for polyvalent antibodies to Borrelia burgdorferi followed by confirmation of positive or equivocal results by IgG and IgM immunoblots [standard 2-tiered (STT) approach]. Newer modified 2-tiered (MTT) approaches employ a second-tier EIA to detect antibodies to B. burgdorferi rather than immunoblotting. We applied modern bioinformatic techniques to a large public database of recombinant and peptide antigen-based immunoassays to improve testing strategy. A retrospective CDC collection of 280 LD samples and 559 controls had been tested using the STT approach as well as kinetic-EIAs for VlsE1-IgG, C6-IgG, VlsE1-IgM, and pepC10-IgM antibodies. When used individually, the cutoff for each kinetic-EIA was set to generate 99% specificity. Utilizing logistic-likelihood regression analysis and receiver operating characteristic (ROC) techniques we determined that VlsE1-IgG, C6-IgG, and pepC10-IgM antibodies each contributed significant diagnostic information; a single-tier diagnostic score (DS) was generated for each sample using a weighted linear combination of antibody levels to these 3 antigens. DS performance was then compared to the STT and to MTT models employing different combinations of kinetic-EIAs. After setting the DS cutoff to match STT specificity (99%), the DS was 22.5% more sensitive than the STT for early-acute-phase disease (95% CI: 11.8% to 32.2%), 16.0% more sensitive for early-convalescent-phase disease (95% CI: 7.2% to 24.7%), and equivalent for detection of disseminated infection. The DS was also significantly more sensitive for early-acute-phase LD than MTT models whose specificity met or exceeded 99%. Prospective validation of this single-tier diagnostic score for Lyme disease will require larger studies using a broader range of potential cross-reacting conditions.

Microstructural breast tissue characterization: A head-to-head comparison of Diffusion Weighted Imaging and Acoustic Radiation Force Impulse elastography with clinical implications

PurposeHead-to-head comparison of Diffusion Weighted Imaging (DWI) and Acoustic Radiation Force Impulse (ARFI) elastography regarding the characterization of breast lesions in an assessment setting. MethodPatients undergoing an ultrasound examination including ARFI and an MRI protocol including DWI for the characterization of a BI-RADS 3–5 breast lesion between 06/2013 and 10/2016 were eligible for inclusion in this retrospective, IRB-approved study. 60 patients (30–84 years, median 50) with a median lesion size of 16 mm (range 5–55 mm) were included. The maximum shear wave velocity (SWVmax) and mean apparent diffusion coefficient (ADCmean) for each lesion were retrospectively evaluated by a radiologist experienced in the technique. Histology was the reference standard. Diagnostic performances of ARFI and DWI were assessed using ROC curve analysis. Spearman’s rank correlation coefficient and multivariate logistic regression were used to investigate the independence of both tests regarding their diagnostic information to distinguish benign from malignant lesions. ResultsCorresponding areas under the ROC curve for differentiation of benign (n = 16) and malignant (n = 49) lesions were 0.822 (ARFI) and 0.871 (DWI, p-value = 0.48). SWVmax and ADCmean values showed a significant negative correlation (ρ = −0.501, p-value < 0.001). In multivariate analysis, combination of ARFI and DWI did not improve the results of each single modality, thus no significant independent diagnostic information was present. ConclusionSignificant correlation between quantitative findings of ARFI and DWI in breast lesions exists. Thus, ARFI provides similar diagnostic information as a DWI-including protocol of an additional “problem-solving” MRI for the characterization of a sonographically evident breast lesion, improving the immediate patient management in the assessment setting.

Can the Diagnostic Accuracy of Bone Scintigraphy Be Maintained with Half the Scanning Time?

We aimed to show that the acquisition time of a conventional bone scan could be reduced by half without losing the diagnostic value of the scan. Methods: Fifty adult patients (37 male and 13 female; mean age, 62.5 y; SD, 8.7 y) were enrolled. The patients were injected with 925-1,110 MBq (25-30 mCi) of 99mTc-methylene diphosphonate intravenously. The standard-protocol whole-body planar images were acquired first (scan speed, 10 cm/min; acquisition time, ∼20 min) and were followed immediately by the half-time protocol whole-body planar images (scan speed, 20 cm/min; acquisition time, ∼10 min). Both sets of images were interpreted by 2 nuclear medicine physicians. Each reviewer, when reviewing the standard-protocol images, was self-masked to the result he or she had obtained when reviewing the half-time images, and vice versa. This self-masking was accomplished by allowing a minimum of 2 wk to elapse between the 2 interpretations. We used the κ-coefficient to compare agreement between the standard-protocol results and the half-time results. Results: There was no difference in clinically significant diagnostic information between the half-time and standard protocols. The diagnostic quality of half-time and standard-protocol images did not significantly differ (0.86 < κ < 1.0). Conclusion: Our data suggest that if we reduce the 99mTc-methylene diphosphonate dose by half and keep the acquisition time at its standard value, we gain the benefit of reduced dose without loss of diagnostic value.

A State-of-the-Art Review for Gastric Histopathology Image Analysis Approaches and Future Development.

Gastric cancer is a common and deadly cancer in the world. The gold standard for the detection of gastric cancer is the histological examination by pathologists, where Gastric Histopathological Image Analysis (GHIA) contributes significant diagnostic information. The histopathological images of gastric cancer contain sufficient characterization information, which plays a crucial role in the diagnosis and treatment of gastric cancer. In order to improve the accuracy and objectivity of GHIA, Computer-Aided Diagnosis (CAD) has been widely used in histological image analysis of gastric cancer. In this review, the CAD technique on pathological images of gastric cancer is summarized. Firstly, the paper summarizes the image preprocessing methods, then introduces the methods of feature extraction, and then generalizes the existing segmentation and classification techniques. Finally, these techniques are systematically introduced and analyzed for the convenience of future researchers.

A novel embedded system design for the detection and classification of cardiac disorders

AbstractPhonocardiogram (PCG) signals hold significant prognostic and diagnostic information about cardiac health. Numerous PCG or heart sound based automated detection algorithms were previously proposed to assist the disease diagnosis process. Most of the previous studies only focused on algorithmic development. This study presents an intelligent, portable, and low‐cost embedded system for the classification of cardiac disorders associated with heart murmurs. Different stages corresponding to the developed embedded system implementation are summarized as follows: The first stage consists of the acquisition of PCG signals of both normal and patients from various hospitals with a customized and low‐cost stethoscope. The second stage describes the preprocessing, localization of S1 and S2 heart sounds, and the extraction of systole and diastole from a heart signal with an empirical mode decomposition integrated with the self‐developed algorithm. In the third stage, discriminant features are extracted to represent various cardiac classes of PCG signals in a compact manner. In the final stage of the algorithm, the k‐nearest neighbors classifier is trained and tested to distinguish between normal and four cardiac disorders. The proposed algorithm achieved 94% mean accuracy through comprehensive experimentation. The cardiac disorders classification algorithm is implemented on a RP‐based embedded system. Software application with an interactive graphical interface is also designed to assist users. The developed intelligent system is portable, low‐cost, and it enables regular patient‐monitoring. The proposed system has the potential to be employed at remote locations where the availability of doctors remains challenging.

Diagnostic contribution of the standard lateral compared to the coned lateral L5/S1 projection for specific lumbar pathologies in the digital era

IntroductionThe aim of this study was to compare the diagnostic contribution of the standard lateral and coned lumbar vertebra five and sacral vertebra one (L5/S1) projection in diagnostic radiology for specific pathologies in the digital era. MethodsThe study used a retrospective qualitative design through a systematic stepwise process. The steps included a retrospective analysis of lumbar spine radiology reports over 20 months. The objective of this step was to identify the most common lumbar spine pathologies observed among the source population records (N=354). A radiologist identified five different pathologies on standard lateral and coned lateral L5/S1 projections (n=96). Fischer's exact test was performed to examine the significance of the association between the standard lateral and coned lateral L5/S1 projection classifications for each of the top five lumbar spine pathologies separately. ResultsThe five most prevalent lumbar spine pathologies indicated were degenerative disc disease (n=235; 66.4%), disc space narrowing (n=175; 49.4%), osteophytes (n=92; 26.0%), endplate sclerosis 19.21% (n=68; =9.2%) and malalignment (n=61; 17.2%). The Fisher's exact test executed to compare the top five lumbar spine pathologies visible on the standard lateral and coned lateral L5/S1 indicated that except for endplate sclerosis (p=0.0023), no significant difference in additional diagnostic information was observed between the standard lateral and coned lateral L5/S1 projections at α=0.05. ConclusionCompared to the standard lateral projection, the coned lateral L5/S1 projection did not contribute statistically significant additional diagnostic information for specific lumbar spine pathologies in the digital era.

Safety and effectiveness of intravenous procainamide in patients with frequent ventricular ectopics during cardiac magnetic resonance scanning: a way to ensure high quality imaging

Abstract Funding Acknowledgements Type of funding sources: None. Introduction Cardiac magnetic resonance (CMR) imaging in patients with frequent ventricular arrhythmias provides significant diagnostic and prognostic information but is challenging due to artefacts. In patients with occasional ventricular premature contractions (VPCs), arrhythmia rejection algorithms can be used to acquire good quality cine images at the expense of longer breath-hold times. However, arrhythmia sorting in not practical in cases of frequent VPCs; other options include triggered data acquisition which compromises image quality or use of low temporal and spatial resolution ‘real-time’ imaging. Purpose The aim of our study was to examine the safety and effectiveness of the class Ia antiarrhythmic medication procainamide for suppressing ventricular ectopy and acquiring high quality CMR images. Methods 50 consecutive patients (mean age 48 ± 16 years; 52% female) with a high burden of VPCs during CMR scanning were included in the study. Procainamide was administered on the scanner table prior to CMR scanning at intermittent intravenous bolus doses of 50 mg every minute, until suppression of VPCs was achieved or a maximum dose of 10 mg/kg was reached. Blood pressure was measured every minute and there was continuous monitoring of heart rate and ECG trace. CMR studies were performed on a 1,5T Magnetom Avanto scanner using a standard cardiac protocol. Results The average dose of procainamide administered was 567 ± 197 mg (range 200-1000 mg). Procainamide successfully suppressed VPCs in 82% of patients (20 patients with complete suppression and 21 with significant reduction); 7 patients had minimal suppression of VPCs, while there was no effect of procainamide in only 2 patients. Baseline blood pressure (BP) was mildly reduced (mean change systolic BP -12 ± 9 mmHg; diastolic BP -4 ± 9 mmHg) but none of the patients developed symptomatic hypotension. Baseline heart rate (HR) was relatively unchanged (baseline 75 ± 11 beats per minute (bpm) – peak procainamide HR 74 ± 12 bpm (mean HR change -1 ± 6 bpm). None of the patients developed pathological ECG changes. CMR scan had normal findings in 42% of the patients, 26% had non-ischemic cardiomyopathy, in 16% the most likely diagnosis was VPC-related cardiomyopathy, 14% had previous myocarditis, and 1 patient had dual pathology (dilated cardiomyopathy with previous myocardial infarction). Mean left ventricular ejection fraction was 55% ± 9%. Conclusion We propose the bolus intravenous administration of procainamide prior to CMR scanning as a safe and effective alternative approach for suppressing VPCs and acquiring high quality images in patients with frequent ventricular arrhythmias and normal or only mildly impaired left ventricular function. Further studies are needed to assess its safety and effectiveness in larger patient cohorts, including also patients with ventricular systolic impairment.

Chest MRI of a pregnant woman with COVID-19 pneumonia

This paper presents a clinical case of a 39-year-old pregnant woman with respiratory signs of the novel coronavirus Covid-19 infection. Chest MRI showed bilateral lesions in basal segments. The PCR test was positive. A lung condition was assessed without loss of significant diagnostic information. Besides that, the absence of exposure to ionizing radiation allowed to avoid a high loading dose on the patient and the fetus. This case reveals potential opportunities of MRI in the diagnosis of pulmonary pathology without exposure to ionizing radiation, especially in patient risk groups (children, pregnant women, etc.).

Utility of neuromuscular ultrasound in the investigation of common mononeuropathies in everyday neurophysiology practice.

In everyday clinical neurophysiology practice, mononeuropathies are evaluated primarily by traditional electrodiagnostic testing. We sought to assess the additional benefit of neuromuscular ultrasound (US) in this scenario. All consecutive mononeuropathies undergoing combined US and electrodiagnostic evaluation over a 23-mo period at a single neurophysiology practice were reviewed. Three independent examiners assessed how often US was: (a) "contributory" - enabling a definite diagnosis not made by electrophysiology alone and/or impacting on the therapeutic decision, (b) "confirmatory" of the electrodiagnostic findings, but not adding further diagnostic or therapeutic information, or (c) "negative" - missed the diagnosis. There were 385 studies included. US was "contributory" in 36%, "confirmatory" in 61% and "negative" in 3%. In this study of everyday neurophysiology practice, neuromuscular US contributed significant diagnostic or therapeutic information in over 1/3 of the investigations for common mononeuropathies. False negative US studies were uncommon in this setting.

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing

BackgroundCongenital cataract (CC) is a significant cause of lifelong visual loss, and its genetic diagnosis is challenging due to marked genetic heterogeneity. The purpose of this article is to report the genetic findings in sporadic and familial CC patients.MethodsPatients (n = 53) who were clinically diagnosed with CC and their parents were recruited. Blood samples were collected in our hospital. Mutations were detected by panel-based next-generation DNA sequencing (NGS) targeting 792 genes frequently involved in common inherited eye diseases.ResultsWe identified variants in 10/37 cases (27.02%) of sporadic CC and 14/16 cases (87.5%) of familial CC, which indicated a significant difference (P = 0.000). Of the 13 variants identified in sporadic cases, nine were previously reported mutations, and three were novel mutations, including one de novo mutation (CRYBB2 c.487C > T). The most frequent variants in our cohort were in crystallins and cytoskeletal genes (5/27, 18.52%), followed by proteins associated with X-linked syndromic conditions (14.81%) and transcriptional factors (11.11%). Additional information on the possibility of complications with inherited ocular or systemic diseases other than CC was provided in 17/27 (62.96%) variants.ConclusionsThese results contribute to expanding the mutation spectrum and frequency of genes responsible for CC. Targeted NGS in CC provided significant diagnostic information and enabled more accurate genetic counselling. This study reports the different distributions of mutation genes in familial and sporadic CC cases.

A Method for Predicting the Main Indicators of Cardiopulmonary Stress Testing for Patients with Chronic Heart Failure

Introduction. Cardiopulmonary stress test provides significant diagnostic and prognostic information of the condition of patients with cardiovascular and pulmonary diseases. There is a serious problem, that final phase of stress testing is a physically difficult exercise for a person. There is a significant risk of occurrence and development of pathological conditions of the patient's cardiovascular system. One of the solutions is the development of methods for assessing the biological parameters of the patients at the end of a load protocol based on data from the initial stages of the test.Aim. Development of a method for finding an estimate of the maximum heart rate (HR) and of the peak oxygen consumption (OC) for the patients with chronic heart failure at the end of a cardiorespiratory exercise stress test, based on the results of the study obtained at the first initial stages of the test.Materials and methods. For the study, 149 anonymized records of rhythmograms and data of changes in the oxygen consumption of the patients with chronic heart failure were used. The patients underwent a cardiopulmonary stress test by a bicycle ergometer using step-by-step load protocol (the load power increase at each stage was 10 W, the duration of the load stage was 1 min)Results. Based on the analysis of the data obtained, a method for assessing the peak values of HR and of PC of the patients with chronic heart failure was developed.Conclusion. The relative error of the proposed estimate of the HR peak in most cases was no more than 10 %, which allows it to be used for practical purposes. It was established that when performing 70 % of the stress protocol, the error of the proposed estimate of the OC peak in most cases did not exceed 20 %. More research is needed to improve the accuracy of the assessment for using in medical applications aimed to the modernization of methods and equipment for stress testing of the patients.