Diagnostic Process Research Articles

Knowledge gaps in diagnosing chronic polyneuropathy: Review of national guidelines.

The prevalence of chronic polyneuropathy will increase due to the aging population, and therefore, it becomes ever so important to optimize the diagnostic process. However, it is uncertain which blood tests are required and when nerve conduction studies (NCS) should be done in the workup of chronic polyneuropathy. We aimed to investigate the methodology used to develop national polyneuropathy guidelines and to provide an overview and strength of evidence of the recommendations. We searched PubMed and websites of national neurological associations as listed on the website of the World Federation of Neurology to identify national guidelines pertaining to the workup of chronic polyneuropathy by neurologists in an outpatient clinic setting. We identified three national guidelines in the United States and seven national guidelines in Denmark, France, Germany, the Netherlands, Norway, Spain, and Turkey. The methodology used to develop the guidelines differed greatly. All guidelines recommend a series of blood tests. Some guidelines advise to conduct NCS in all patients, while other guidelines advise to conduct NCS when certain symptoms are present. There is variation in recommendations about the extensiveness of NCS, but all mention measuring the sural nerve and the motor peroneal nerve. The evidence for the recommendations is graded as low. Despite some overlap, there are disparities between guidelines regarding the workup that is advised to do in patients with chronic polyneuropathy. It remains unclear which combination of blood tests are to be strongly recommended. Furthermore, it is undetermined whether NCS are always necessary.

Autism Spectrum Disorder in Children: Early Signs and Therapeutic Interventions

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by challenges in communication, social interaction difficulties, and repetitive behaviors that can hinder a child’s development. The growing prevalence of autism necessitates early detection and effective intervention strategies. This review summarizes the current knowledge of early indicators of ASD, including brain development markers and behavioral signs visible in infants. It investigates diagnostic processes, emphasizing the importance of timely detection at 18 to 24 months using established screening tools. We discuss a variety of therapeutic approaches, including behavioral interventions, educational strategies such as music therapy, and technological advancements such as speech-generating devices. Furthermore, we investigate pharmacological options for treating associated symptoms, emphasizing the lack of targeted medications for core ASD symptoms. Finally, we present evidence highlighting the positive effects of early intervention on developmental outcomes, advocating for individualized treatment plans to enhance the well-being of children with ASD. This comprehensive overview aims to inform ongoing ASD research and clinical practices.

Concordance between cardiological interventions and artificial intelligence recommendations for patients presenting with chest pain, based on consultations from the emergency department to cardiology

Abstract Introduction The management of chest pain in emergency departments is a critical challenge. The integration of advanced artificial intelligence (AI) tools, such as pre-trained generative systems like ChatGPT, may present an opportunity to optimize this diagnostic process. This study investigates the effectiveness of AI in recommending diagnostic tests for patients presenting with chest pain, evaluating its concordance with clinical decisions by experienced cardiologists. Methods Retrospective observational study where 102 cases of patients with chest pain treated in the ED and assessed by Cardiology between January and March 2023 were reviewed. Chest pain was classified into high, medium and low probability. Data from emergency department to cardiology consultations were presented to ChatGPT, asking which diagnostic test it would recommend: conventional ergometry, coronary CT, imaging stress test, coronary angiography, or discharge. Various concordance indices, such as Simple Match and Tanimoto, among others, were used to evaluate the consensus between ChatGPT recommendations and cardiologists' decisions (table 2). Results Out of the 102 cases collected, 54% presented with high, 35% with medium and 11% with low probability chest pain. Table 1 summarizes the different proposals between the cardiologist and the AI. For patients with high probability chest pain, coronary angiography was the most commonly requested test, with a positive concordance of 77% according to the Simple Match index and 72% as per the Tanimoto coefficient. For other tests such as ergometry or imaging stress test, there were a 77% and 74% agreement, respectively, in not performing these tests, and there was an almost unanimous agreement (close to 100%) against discharging patients without conducting tests. Medium probability chest pain was more frequent and complex in its management. The decision to perform a coronary angiography agreed in 70% according to the Simple Match index and 72% with Tanimoto. The decision not to discharge patients directly without conducting tests showed a higher agreement at 89%. Other results were less precise. For low probability chest pain, there was a notable concordance (90%) in the decision not to perform diagnostic tests, such as imaging stress test, according to the Simple Match index. Conclusions - The AI achieves a notable concordance with cardiologists' decisions in the diagnostic approach of chest pain, particularly for patients with high probability chest pain, where the coronary angiography demonstrated good agreement. - Although AI cannot fully replace the clinical judgment of cardiologists in cases based on self-reported information, its utility as a supportive tool underscores the potential for its careful integration with medical expertise to enhance the diagnostic process. This implies the need for the development of specialized AI tools to better assist cardiologists in patient diagnosis.Table 1Table 2

Challenging endomyocardial biopsies' gold standard status in rejection screening: a prospective blinded study on cardiovascular magnetic resonance in heart transplant patients

Abstract Background The detection of rejection is crucial for graft survival after heart transplantation. Endomyocardial biopsies (EMBs) serve as the gold standard for rejection surveillance despite its limitations, while cardiac magnetic resonance (CMR), in conjunction with donor-derived cell-free DNA (dd-cfDNA) analysis, holds promise as a non-invasive approach. Purpose In this prospective blinded study, our aim was to evaluate feasibility of CMR for rejection screening, validating it against EMB, dd-cfDNA, and clinical status. Methods We blindly analyzed 250 studies involving CMR, EMB, dd-cfDNA, and clinical data in 58 heart transplant recipients (17 children and 41 adults). Of these 250 studies, 239 (96%) were assessed within 1 to 28 months after transplantation, and 11 studies (4%) 3-14 years post-transplant. In CMR T1- and T2-mapping analyses, acute rejection was defined by T1 or T2 times exceeding the specified thresholds (T1 ≥ 1060 ms, T2 ≥ 55 ms) in at least 2/16 heart segments. EMB findings were graded according to the ISHLT criteria (2005 and 2013), and acute cellular rejection (ACR) grade ≥ 2 or antibody-mediated rejection (AMR) grade ≥ 1 were considered significant. The cutoff for abnormal dd-cfDNA was set at 0.2%. Solely clinical rejection included patients with absent or normal EMB (ACR grade 0-1 and AMR grade 0), but with symptoms or ECG/echocardiographic findings indicative of acute rejection. Results Our study revealed 22 acute rejections, with 15 confirmed through EMB and 7 diagnosed solely based on clinical indicators. Among the EMB-confirmed cases, 3/15 exhibited AMR grade 1, 10/15 demonstrated ACR grade 2 and 2/15 ACR grade 3. CMR identified rejection in 77% (17/22) of cases. Specifically, it successfully identified rejection in 67% (10/15) of EMB-confirmed cases and 100% (7/7) of solely clinically diagnosed cases. Examining the concordance between CMR findings and dd-cfDNA levels, 35% (6/17) of the CMR-identified rejection cases exhibited abnormal dd-cfDNA, while 30% (5/17) showed normal levels. Notably, in one case, despite normal CMR results, both EMB and dd-cfDNA indicated rejection. Conversely, in four instances where EMB indicated acute rejection, both CMR and dd-cfDNA levels were normal. These findings highlight a potential discrepancy in the diagnostic accuracy of EMB, suggesting its tendency to both over- and underdiagnose acute heart transplant rejection. The integration of CMR and dd-cfDNA in the diagnostic process may provide a more comprehensive and reliable assessment of rejection episodes, offering valuable insights for clinical decision-making in heart transplant recipients. Conclusions EMB presents challenges in both under- and overdiagnosing rejection in heart transplant surveillance. A strategy based on CMR, combined with dd-cfDNA analyses, shows promise as a new gold standard for rejection screening.Flowchart

Diagnostics and surgical treatment of ruptured Baker's cysts: A prospective study

AimsWe assessed diagnostic and arthroscopic surgery challenges the ruptured Baker's cysts (RBC) cases may present compared to intact Baker's cyst cases (IBC). The main question to explore was: Is RBC arthroscopic surgery more complex than IBS surgery? The null hypothesis was that RBC cases might present additional, and specific challenges for a surgeon and the arthroscopic procedure may be more complicated. MethodsThe prospective cohort study analyzed 100 operated patients (43 % female; mean age 61 ± 9.5 years) (2005–2022; follow-up to August 2023) diagnosed with RBC. The comparison group consisted of 100 operated patients (48 % female; mean age 57 ± 12.5 years) with IBC. We compared diagnostic challenges, surgical approaches, functional outcomes, the rates of postsurgical complications and recurrence, durations of surgery and immobilization, and the time to recovery. ResultsAmong statistically significant results, RBCs were more frequently detected during the differential diagnosis with thrombophlebitis (28 vs. 17, p = 0.04) and by 99m-Tc-MDP radiography (30 vs. 10, p = 0.03). They frequently involved a three-port arthroscopic approach (89 vs. 71, p = 0.04), the cyst wall preservation (p = 0.03), and had the eight-day shorter time to recovery (p = 0.05). Other above-mentioned variables were similar in both groups of patients. ConclusionRBCs do not present an additional challenge for a surgeon if an arthroscopic technique is used, but the diagnostic process may be challenging. Most RBCs require a three-port arthroscopic approach and permit cyst wall preservation.

Prevalence of adenomyosis in adolescents: diagnostic process and symptoms. Systematic review.

Adenomyosis is a uterine disorder commonly associated with painful menstrual cycles, abnormal uterine bleeding, and dyspareunia, which can significantly impact fertility, pregnancy outcomes and overall quality of life. Recent literature reports suggest that adenomyosis is increasingly being identified in adolescents, particularly in those presenting with severe dysmenorrhea and heavy menstrual bleeding. In this review we evaluate the frequency of adenomyosis diagnosis on imaging studies in relation to the occurrence of dysmenorrhea, pelvic pain and heavy menstrual bleeding (HMB). A thorough literature search was performed using PubMed, EMBASE and SCOPUS databases. It was confined to articles published from 1 January 2019, to 1 August 2024 and included only those available in English. Due to the very limited number of publications on this topic, an age range of 12-25 years was selected as the inclusion criteria. For articles that met the inclusion criteria, information regarding diagnosis on imaging and relation to the occurrence of symptoms was extracted. Five full-text articles were reviewed. Studies including adolescents and young women from 12-25 years of age who presented with HMB, pelvic pain, dysmenorrhea and an imaging-based diagnosis of adenomyosis. The prevalence of adenomyosis in this population ranged from 25 to 45%. It is crucial to consider adenomyosis in the differential diagnosis of adolescent girls presenting with dysmenorrhea, heavy menstrual bleeding, and pelvic pain. Dysmenorrhea was the most frequently reported symptom (from 81 to 100%) associated with imaging features of adenomyosis.

Score-2 in heavy smokers: are we underestimating the risk?

Abstract Background The shared diagnostic decision-making process in patients with atypical chest pain is challenging, especially when functional tests are negative. SCORE2 (1) can help in making decisions. In this score, the risk is assessed based on geographical origin, age, sex, current smoking, systolic blood pressure, cholesterol values. However, it does not take into account the quantity of cigarettes smoked but only the current binary value, yes or no. In our study we wanted to evaluate the impact of smoking on prognosis, considering the number of cigarettes smoked and in particular focusing on heavy smokers. Methods In the last 15 years we evaluated 3,588 outpatients aged >35 years (average 64±9, women 55%) for the presence of stable chest pain. We excluded 290 patients who had ECG changes compatible with recent ischemia, history of myocardial infarction or any other major cardiovascular event, evidence of heart failure, left ventricular dysfunction, or cardiomyopathies. In the other 3,298 cases we applied the traditional classification of typical, atypical angina and non-anginal pain. A functional test was performed in all patients. In 2,774 patients with atypical chest pain and negative functional test we evaluated the extent of cardiovascular risk based on SCORE2 and the number of cigarettes currently smoked. One year follow-up was carried out to evaluate vital status and any fatal and non-fatal cardiovascular events. Results Table 1 shows the events in patients classified according to the degree of cardiovascular risk of SCORE2 and in heavy smokers (≥ 20 cigarettes per day) aged <70 years as a cathegory in itself. In moderate smokers (<20 cigarettes/day) of any age, the risk was considered binary as in the conventional assessment. Tables 2 and 3 show the risk stratification in male and female patients. SCORE2 is unable to intercept the extremely high risk of heavy smokers aged <70 years. This happens both in males, considered at moderate risk in 76% of cases but with a rate of fatal events of 2.4% and as many non-fatal events, both in women with a risk considered moderate in 80% of cases but with a 12% rate of fatal events (as seen in Table 1). Conclusions SCORE2 does not consider the quantity of cigarettes smoked per day, so if we rely on it heavy smokers seem to have a moderate risk. On the contrary, based on our analysis, they all have an extremely high risk, regardless of other risk factors, and in any case higher than non-smoking or moderately smoking patients. Especially heavy smoking women aged <70 years with atypical chest pain and negative functional tests have an extreme risk of fatal cardiac events (12% at one year). Probably these patients (male and female), regardless of the outcome of functional tests, should be sent for an anatomical evaluation for the detection of high-risk stenosis, as well as firmly urged to improve lifestyles and treat risk factors .

Development and implementation of a guideline-based decision support system for etiological diagnosis of Sustained Monomorphic Ventricular Tachycardia (SMVT)

Abstract Background Guideline (GL)-based decision support systems (DSSs) play a significant role in supporting physicians in their decision-making processes by providing structured clinical guidance. While these systems have shown significant success in enhancing practitioner performance and patient outcomes in general practice, their application in the context of ventricular arrhythmias remains limited. Moreover, the clinical etiological diagnosis of ventricular arrhythmias presents various challenges for healthcare professionals, such as adherence to updated diagnostic criteria and understanding of complex arrhythmia mechanisms. Purpose In this study, we aim to design, implement, and evaluate a guideline-based decision support systems for etiological diagnosis of sustained monomorphic ventricular tachycardia (SMVT), which could potentially address critical challenges associated with the disease diagnosis and management. Methods To comprehensively capture the semantics embedded in clinical guidelines, we first developed a dedicated knowledge graph tailored to the clinical decision-making. This involved extracting entities and relationships pertinent to key decision procedures from ESC guidelines for ventricular arrhythmias, clinical textbooks or literatures. Subsequently, we translated instances within the knowledge graph into archetypes within openEHR, amplifying the interoperability of clinical information. To enhance the interpretability of the DSS, we established executable diagnostic and treatment processes to offer visual representation of clinical steps in diagnosis and treatment. Ultimately, we constructed a decision support engine to implement the GL-DSS, and its effectiveness was evaluated with anonymous real-world data. Results The proposed GL-DSS was found to be quite feasible and could provide etiological diagnosis for SMVT. The knowledge base for the constructed GL-DDS included more than 2000 entities and relations, which played a vital role in representing disease pathogenesis. The proposed system can map the clinical entities to a set of openEHR archetypes, thus mitigate the interoperability issues of the hospital information systems and CDSS data integration. Also, this module improved system usability and ensured that guidelines could be easily translated and updated into decision support tools. Real-word medical records from 20 patient were collected for model evaluation, the results showed that the GL-DSS covered most of the entities and relations between diseases and diagnostic evidence recorded in clinical texts and achieved a diagnosis accuracy of 80%. Conclusions The results demonstrated that our proposed GL-DSS could completely and accurately capture the diagnostic information under the concrete EHR data. Thus, the implement decision support system could have the potential to improve clinical decision-making, patient care, and outcomes in this specialized medical domain.

EPAS-1 as a potential D-dimer alternative in pulmonary embolism evaluation

Abstract Background and Objectives We aimed in this study was to determine the changes in EPAS-1 levels, which is a biomarker proven to increase with hypoxia, at the time of diagnosis and after treatment in addition to the laboratory parameters and scoring systems examined at the time of admission in patients with pulmonary thromboembolism. Methods Our study included 60 pulmonary embolism patients followed in the Cardiology clinic and 60 control groups with similar demographic characteristics. Laboratory parameters determined at the time of admission were examined. Pulmonary embolism risk and severity scores were applied and EPAS-1 levels were also studied. To determine the response, EPAS-1 levels were checked 3 days later and compared with the control group. Results There was no difference between the two groups in terms of demographic characteristics and comorbidities.EPAS-1 levels were found to be higher at the time of diagnosis compared to the control group ((3.6±1.42/1.57±0.45), p<0.001). It showed a statistically significant positive correlation with PESI severity score and risk score in the patient group. EPAS-1 levels were shown to decline with the treatment of the patients and the tendency to decline was different according to the types of treatment. In patients who died, EPAS-1 levels continued to increase despite treatment (p:0.014). Conclusions Our study is important in that EPAS-1 levels, which are correlated with scoring systems and other laboratory parameters used in pulmonary embolism patients, can be used as a predictive value in the diagnostic process of the disease and play a complementary role in the evaluation of treatment response.

Development and validation of a smartphone based app to guide the differential diagnosis in patients with primary left ventricular hypertrophy: the Thick Heart App

Abstract Introduction Patients presenting with primary Left Ventricular Hypertrophy (LVH) suffers from a diagnostic delay quantified in years. They are often misdiagnosed because of both physician-related and disease-related reasons including fragmented knowledge among different specialties and rarity of the conditions. Purpose We developed and validate a free digital support tool in the form of an App to provide support and to guide the physician in the differential diagnostic process of patients presenting with primary LVH. Methods We studied 712 patients with definitive diagnosis of sarcomeric HCM or one of its genocopies (414 (58%) males, 48±24 years) referred to four tertiary centers in Europe. Pre-specified RF were categorized into five domains: family history; signs/symptoms; electrocardiography, echocardiographic and laboratory. Each patient’s characteristics were inserted by two independent and blind investigators on the App of the digital support tool. The possible diagnostic outcome was categorized as follows: (a) most likely diagnosis (age range for the condition, at least 1 extremely specific RFs or >1 specific RF; (b) possible diagnosis (age range, 1 specific RF); (c) less likely diagnosis (outside age range, no RF selected). Results Ris were common in patients presenting with a genotyped HCM (2568 RFs, 3.5 per patient). RF on physical examination was associated with non sarcomeric aetiology (318/319 physical examination RF identified in non-sarcomeric HCM), whereas 68% of RF associated with sarcomeric HCM were derived from accurate ECG and echocardiography analysis. Sarcomeric HCM, TTR-amyloidosis, Danon and PRKAG2 cardiomyopathy relied extensively on ECG and echocardiographic systematic analyisis (68%, 69%, 67% and 69% respectively). In contrast, AFD, Friederich’s ataxia, Noonan syndrome with multiple lentiges (NSML), mitochondrial, Pompe and Noonan cardiomyopathy presented red flags potentially identifiable in the general practioner setting by anamnesis, physical examination and routine laboratory (57%, 59%, 52%, 57%, 57% and 58% respectively) in the vast majority of case. A total of 697/712 (97.8%) were correctly categorized in the most likely and possible diagnosis section. The App proved to be sensible for sarcomeric HCM, FD (0.99 and 0.91, NPV 0.98 and 0.83) and extremely capable in the identification of rare causes of LVH (Danon, Friederich’s ataxia, LEOPARD, Pompe, Noonan and PRKAG2 diseases). By design, specificity was not high, in particular for sarcomeric HCM and FD. Conclusions The present validation of an App based free digital support tool in the form of an App proved to be extremely sensible in providing the support to the screening of different causes of primary LVH in patients presenting with a HCM phenotype. Further external and multicenter validation is warranted.

Cardiac magnetic resonance in MINOCA patients: a non-tertiary hospital experience

Abstract Background Cardiac magnetic resonance (CMR) is a key tool in the diagnostic process of myocardial infarction with non-obstructive coronary arteries (MINOCA), impacting patient management and prognosis. Its use in non-tertiary hospitals is often constrained mainly by accessibility. Thus, the aim of this study was thoroughly evaluate CMR application in this context to optimize the process. Methods 136 MINOCA patients who were admitted to our hospital between 2016 and January 2024 were analyzed. Each MINOCA patient was reviewed by experts to align with the diagnosis criteria outlined in the 2020 ESC Guidelines and the American Heart Association position paper, which recommended CMR for MINOCA patient’s evaluation. To assess the factors associated with normal-CMR, a logistic regression analysis was performed. In a first step, some factors were detected, showing a trend in the association. In a second step, a backward elimination procedure was used, excluding factors with p>0.1. Results CMR was performed in 65 MINOCA patients (48% of the cohort), with a mean age of 59±15 years old, 35 of them were males (54% of total patients). During the follow-up, there were 4 deaths (6%) and 4 readmissions (6%). Out of the total 65 patients, the CMR diagnosis was myocardial infarction (MI) in 14 (21.5%) and myocarditis in 16 (24.6%), and was normal in 35 (53.9%). Therefore, CMR provided diagnostic information in 46% of the cases. It was noted that a normal CMR was associated with female gender, (OR 2.7, 95% CI 0.96-7.34, p=0.057), hypertension (OR 2.25, 95% CI 0.81-6.22, p=0.11), absence of segmental abnormalities in echocardiography (OR 0.14, 95% CI 0.035-0566, p=0.06) and lower high-sensitivity Troponin T (OR 0.79, 95% CI: 0.66-0.95, p=0.001). In the second step, only segmental abnormalities (OR 0.2, 95%CI 0.04-1.09, p=0.063) and troponin (OR 0.31, 95%CI 0.10-0.99, p=0.048) remained included. Additionally, the Youden Index was determined to obtain the threshold for troponin, resulting a value of 606 nG/mL, area under ROC curve (AUC) = 0.784 (figure). Conclusions - CMR was performed in 48% of the MINOCA patients, reflecting the limitation for its use in routine clinical practice. Furthermore, it was useful in 46% of those patients. - The main factors associated with normal CMR were absence of segmental echocardiography abnormalities and reduced troponin levels. - A troponin cutoff point of 606 ng/mL identified patients with a normal CMR (AUC=0.784).Figure 1.CMR in MINOCA patientsFigure 2.Area under ROC curve = 0.784

CULTURAL adaptation and validation of the Indonesian version of the Roland-Morris disability questionnaire: A psychometric analysis

BACKGROUND: Epidemiological evidence underscores low back pain (LBP) as a prevalent and consequential musculoskeletal disorder, posing a significant public health challenge. Patient-reported outcome measures (PROMs) play a crucial role in the diagnostic process for LBP, with the Roland-Morris Disability Questionnaire (RMDQ) being a commonly utilized tool in evaluating LBP. OBJECTIVE: This cross-sectional study aimed to cross-culturally adapt and validate the Indonesian version of the 24-item-RMDQ among nonspecific LBP (NSLBP) patients. METHODS: The RMDQ scales underwent forward-backwards translation, readability, and content validity assessments with NSLBP patients (n = 137), with a mean age of 38.6±11.8 years (59% female). Psychometric testing included assessments of internal consistency and 1-week test-retest reliability, convergent validity with pain numeric rating scale (PNRS), and the Physical Component Summary (PCS) and Mental Component Summary (MCS) of quality of life (Short Form 12). The construct validity using confirmatory factor analyses (CFA). RESULTS: The findings of this study indicated a good internal consistency (Cronbach α= 0.80) of the translated instrument. Moderate to good repeatability estimates of all RMDQ items were demonstrated with the total ICC of the total RMDQ score of 0.90 [95%CI (0.85–0.94)]. The instrument correlations with PNRS, PCS, and MCS were 0.54, 0.60, and 0.23, respectively. The goodness-of-fit test further affirmed an acceptable fit of the data, although low factor loadings were found in several RMDQ items. CONCLUSION: Although the factor structure of the RMDQ scale warrants further investigation, the overall findings support its suitability for clinical application in Indonesian NSLBP patients.

Part-Prototype Models in Medical Imaging: Applications and Current Challenges

Recent developments in Artificial Intelligence have increasingly focused on explainability research. The potential of Explainable Artificial Intelligence (XAI) in producing trustworthy computer-aided diagnosis systems and its usage for knowledge discovery are gaining interest in the medical imaging (MI) community to support the diagnostic process and the discovery of image biomarkers. Most of the existing XAI applications in MI are focused on interpreting the predictions made using deep neural networks, typically including attribution techniques with saliency map approaches and other feature visualization methods. However, these are often criticized for providing incorrect and incomplete representations of the black-box models’ behaviour. This highlights the importance of proposing models intentionally designed to be self-explanatory. In particular, part-prototype (PP) models are interpretable-by-design computer vision (CV) models that base their decision process on learning and identifying representative prototypical parts from input images, and they are gaining increasing interest and results in MI applications. However, the medical field has unique characteristics that could benefit from more advanced implementations of these types of architectures. This narrative review summarizes existing PP networks, their application in MI analysis, and current challenges.

The impact of early use of echocardiography performed by non-cardiologist in patients with chest pain - the ENDEMIC study

Abstract Background Echocardiography is well-established method in management of chest pain at Emergency department (ED). However, evidence on the optimal scope of the examination and the education of the examiner is scarce. Early point of care echocardiography (POCE) by ED physician can speed up the diagnostic process compared to echocardiography performed by dedicated specialist, at the cost of a higher risk of misdiagnosis. Purpose Primary objective was to assess the impact of POCE on length of stay on emergency department (ED). Secondary objectives were to evaluate the impact of POCE on time to revascularization and on the accuracy of the diagnosis at the initial examination. Methods ENDEMIC study is a prospective, randomised, open-label, single centre study. Prior to enrolment, physicians without any previous experiences with POCE were educated according to BSE standard level 1. Patients examined for chest pain of uncertain etiology were enrolled into the study and randomised in even-odd manner for POCE within 90 minutes or for usual management. In all patients the length of ED stay, time to coronary angiography and accuracy of working diagnosis. Length of ED stay was defined as time form first contact of the patient with ED to the moment when the patient physically leaved the ward. Time to revascularization was retrieved from patient´s medical records and confirmed by telephonic visit. A working diagnosis was considered accurate if it shared both pathophysiological mechanism and diagnostic criteria with the final diagnosis. All POCE examinations were recorded and revised by certified echocardiography specialist for errors. Results The study was early terminated after enrolment of 150 patients, because main objectives were met. The use of POCE resulted in a significant shortening of both time of decision (138.0 [68.5−230.5] min vs. 252.0 [165.5−304.0], p=0.000004) and length of ED stay (209.0 [143.5−260.0] min vs. 271.0 [206.5−336.0], p=0.0002. Moreover, in patients indicated for further follow-up, utilisation of POCE resulted in better concordance of working and final diagnosis: 91,6 % vs. 50 %; RR = 1.83 (1.104-2.565); p = 0.0063. Benefits of POCE were most pronounced in patients requiring hospitalization. Conclusion The study showed that echocardiography performed by sufficiently educated physician in patients with acute chest pain results in significant shortening of ED stay along with improved diagnostic accuracy.

PEDAGOGICAL CONDITIONS OF PREPARING STUDENTS FOR DIAGNOSTIC ACTIVITIES IN INSTITUTIONS OF HIGHER EDUCATION

The training of highly qualified pedagogical staff is particularly relevant, as well as the process of diagnostic activity in the system of professional training and the identification of means of objective assessment of the quality of preparedness of future teachers for creativity and pedagogical mastery in the field of pedagogical work. The purpose of the research: to identify a set of pedagogical conditions and to theoretically substantiate their importance in the increased productivity of forming the readiness of future teachers for diagnostic activities. Research methods: analysis, synthesis and systematization of philosophical psychological-pedagogical and methodological studies devoted to the formation of the readiness of future teachers for diagnostic activity, the formation of readiness for diagnostic activity in the process of professional training at the university, for studying the state of the problem and theoretical justification of the need for it; comparative analysis, generalizations, which make it possible to distinguish the pedagogical conditions of the productivity of training future teachers for diagnostic activities in the system of university education. The positive result in the formation of readiness of future teachers for diagnostic activity in the educational process is due to a set of conditions: the creation of a psychological climate and a communication-emotional educational environment for the development of professional potential in the educational institution; the development of the innovative potential of an individual, the creative saturation of the diagnostic activity content; personal active position of the diagnostic process subjects; methodological literacy in the diagnostic activities organization and implementation.

Black Caregiver Perspectives During a Developmental Diagnostic Interview.

Despite increasing autism prevalence rates across racial and ethnic groups, research has traditionally overlooked the influence of culture on developmental diagnostic conversations. Addressing this gap in research is crucial to understanding and mitigating potential disparities in diagnostic experiences, especially among Black caregivers. Black caregivers encounter frustration and discrimination during the diagnostic process, citing dismissiveness and a lack of cultural competence from healthcare providers. To address these issues, this study centers the perspectives of Black caregivers as they participate in a developmental diagnostic program for toddlers under three years of age. This retrospective qualitative study, conducted exclusively by a Black research team, involved nineteen Black caregivers of thirteen toddlers as they participated in semi-structured interviews conducted by a multidisciplinary clinical team. The research team employed a conceptual content analysis to examine caregivers' descriptions of their children's behaviors and characteristics, as well as the factors and experiences associated with their descriptions. Caregivers provided distinct descriptions of behaviors and characteristics in the categories of language and communication, learning, and temperament, associating them with situational and dispositional factors and experiences. The findings offer valuable insights for implementing culturally responsive diagnostic practices. Additionally, these results may enhance the quality of caregiver-provider interactions during developmental assessment, leading to earlier and more accurate diagnoses for Black children.

Segmentation of MR images for brain tumor detection using autoencoder neural network

Medical images often require segmenting into different regions in the first analysis stage. Relevant features are selected to differentiate various regions from each other, and the images are segmented into meaningful (anatomically significant) regions based on these features. The purpose of this study is to present a model for segmenting and identifying the local tumor formation in MR images of the human brain. The proposed system operates in an unsupervised manner to minimize the intervention of expert users and to achieve an acceptable speed in the tumor classification process. The proposed method includes several steps of preprocessing for different brain image classify that Perform the normalization task. These preprocessing steps lead to more accurate results in high-resolution images and ultimately improve the accuracy and sensitivity of tumor separation from brain tissue. The output of this stage is applied to a self-encoding neural network for image zoning. By nature of self-encoding networks, leads to reduce the dimensionality of tumor pixels from the surrounding healthy environment, which significantly helps remove regions incorrectly extracted as tumors. Finally, by extracting features from the previous stage's output through Otsu thresholding, the surrounding area and type of tumor are also extracted. The proposed method was trained and tested using the BRATS2020 database and evaluated by various performance metrics. The results based on the Dice Similarity Coefficient (DSC) show an accuracy of 97% for the entire MR image and improved detection accuracy compared to other methods, as well as a reduction in the cost of the diagnostic process.

A retrospective analysis of syphilis cases with a focus on otolaryngology at a university hospital

ObjectivesIn recent years, there has been a notable increase in syphilis cases in Japan and Western countries. Syphilis, a classic sexually transmitted disease caused by treponemas, presents diagnostic challenges due to its diverse clinical manifestations. This study explores the diagnosis of syphilis in patients treated at our hospital. MethodsWe retrospectively reviewed patients who visited our hospital between April 2015 and March 2024. The review focused on the patients' clinical backgrounds, onset times, symptoms, diagnostic processes, and clinical courses. ResultsOur hospital had 45 cases of syphilis. Forty-five cases of syphilis were diagnosed as syphilis in our hospital (13 cases were diagnosed in the Otolaryngology: ENT department). The median age was 40 years, with a significant male predominance (male-to-female ratio of 34:11). The median duration from the onset of subjective symptoms to syphilis diagnosis was 54 days. The timeframe from the initial clinic visit to diagnosis ranged from 1 to 57 days, with a median of nine days. Notably, 47.5% of the patients reported a history of employment or patronage in the sex industry. 73.3% of patients presented to local clinics with any kind of subjective symptoms, but syphilis was often missed in the differential diagnosis. Patients visiting the ENT department were referred to our hospital with a diagnosis of persistent oral ulcer, oropharyngeal carcinoma and neck lymphadenopathy. Histological and cytological evaluation was performed in 33% of patients, but the diagnosis was often difficult to make. Additionally, some patients initially denied using sex services at their first visit but later disclosed this during subsequent visits to the Department of Infectious Diseases, highlighting the critical role of thorough medical history assessments. ConclusionDiagnosing syphilis can be challenging unless the physician specifically suspects it. It is crucial to consider syphilis in cases of pharyngeal mucosal inflammation and neck lymphadenopathy. This study highlights the need for heightened awareness and education regarding the signs and symptoms of syphilis, particularly oropharyngeal and skin findings, to ensure timely diagnosis and treatment.

Establishment of Animal Infection Model of Spirometra Mansoni and Identification of Spirometra Mansoni by Enzyme-Linked Immunosorbent Assay.

Objective: Spirometra mansoni is a crucial zoonotic parasite. Its larvae are more harmful than adult worms due to their ability to migrate through the host's tissues and organs. Therefore, it is necessary to establish an animal model of spargana for observing pathological changes and exploring diagnostic techniques. Methods: In this study, we infected Kunming mice and cats without any pathogens by feeding sparganum (with the scolex and neck) in order to understand the infection cycle of S. mansoni and explore the preservation host of sparganosis. The infection of S. mansoni was determined by fecal detection and enzyme-linked immunosorbent assay (ELISA). Results: In the model of cats, the eggs of S. mansoni were found in the feces ten days after the infection. The serum-specific IgG antibodies against S. mansoni were positive in experimental groups (mice and cats), and after sixty days, the S. mansoni worms isolated from experimental groups were collected. Conclusion: In conclusion, the experimental results show that mice and cats can be stably infected with S. mansoni through feeding sparganum (with the scolex and neck). The infection method of this study has the potential to establish a practical model for investigating the diagnostic process of S. mansoni, laying the groundwork for application and development. ELISA was used to diagnose mice and cats infected with sparganosis mansoni, providing a case for non-invasive identification of animal sparganosis.

Dysautonomia and Postural Orthostatic Tachycardia Syndrome: A Critical Analysis of Dysautonomia: How to Diagnose and Treat.

A significant number of physicians are unclear of the vast clinical manifestations of dysautonomia and imbalance of the autonomic nervous system, specifically the parasympathetic and sympathetic nervous systems. The major obstacle has been an inability to determine the mechanism of action as well as multisystem dysfunction and a lack of clear-cut testing. Dysautonomia, a pathophysiological malfunction of the sympathetic and parasympathetic nerves in our bodies, can present as altered clinical functions of heart rate (tachycardia/bradycardia), altered breathing patterns, blood pressure (hypertension/hypotension), sweating, digestion, syncope, etc. These symptoms have caused specialists to miss this diagnosis because of relative nonspecificity. Our current analysis of patients demonstrates significant delays in diagnosis, misdiagnosis, and the development of chronic syndromes because of the above. We demonstrate that monitoring of heart rate and blood pressure with changes in position and respiration can be easily and quickly performed without orthostatic stress and can demonstrate the entities of sympathetic withdrawal, cholinergic excessive aspects as well as tachycardia, blood pressure dips with posture, etc. This analysis takes less than an hour without the need for injections or medication, thus more quickly informing the cardiologist/neurologist of the correct diagnosis. We will attempt to demystify these issues so that clinicians and the scientific community will have a better understanding of this entity and consider a diagnosis of dysautonomia earlier in the differential diagnostic process and start treatment approaches sooner.