Diagnostic Experience Research Articles

FISH diagnostics in plasma cell myeloma: recommendations and own experience

Plasma cell myeloma (PCM) is disease with heterogeneous clinical outcomes. It is increasingly evident that the genetic features of the tumor cells largely dictate the clinical heterogeneity of PCM. Primary chromosomal alterations in myeloma can be divided into hyperdiploid and non-hyperdiploid subtypes. Secondary chromosomal changes occur during progression of disease. Cytogenetic abnormalities are important prognostic markers in PCM and some of them were incorporated into the current prognostic staging system of PCM. The presence of t(4;14), t(14;16), t(14;20), gain of 1q or TP53 deletion is considered to be high-risk myeloma. Detection of these alterations can be performed by interphase fluorescence in situ hybridization (FISH) after separation or identification of the plasma cells. The proper FISH examination in myeloma has to meet further requirements regarding aspirating and timing of samples, probe selection and their cut-off levels, the criteria of accurate analysis and reporting. Based on the literature, we here present technical recommendations regarding FISH in PCM. Furthermore, we share our own experience in FISH diagnostics acquired over 12 years. In this period, we have performed nearly 2,050 FISH tests in 603 myeloma patients and used two different methods of myeloma FISH: FISH on immunolabeled plasma cells, and target FISH with the BioView system.

Validation of digital microscopy: Review of validation methods and sources of bias.

Digital microscopy (DM) is increasingly replacing traditional light microscopy (LM) for performing routine diagnostic and research work in human and veterinary pathology. The DM workflow encompasses specimen preparation, whole-slide image acquisition, slide retrieval, and the workstation, each of which has the potential (depending on the technical parameters) to introduce limitations and artifacts into microscopic examination by pathologists. Performing validation studies according to guidelines established in human pathology ensures that the best-practice approaches for patient care are not deteriorated by implementing DM. Whereas current publications on validation studies suggest an overall high reliability of DM, each laboratory is encouraged to perform an individual validation study to ensure that the DM workflow performs as expected in the respective clinical or research environment. With the exception of validation guidelines developed by the College of American Pathologists in 2013 and its update in 2021, there is no current review of the application of methods fundamental to validation. We highlight that there is high methodological variation between published validation studies, each having advantages and limitations. The diagnostic concordance rate between DM and LM is the most relevant outcome measure, which is influenced (regardless of the viewing modality used) by different sources of bias including complexity of the cases examined, diagnostic experience of the study pathologists, and case recall. Here, we review 3 general study designs used for previous publications on DM validation as well as different approaches for avoiding bias.

Geographic variation in diagnostic and treatment interval, cancer stage and mortality among colorectal patients – An international comparison between Denmark and Scotland using data-linked cohorts

BackgroundRurald wellers with colorectal cancer have poorer outcomes than their urban counterparts. The reasons why are not known but are likely to be complex and be determined by an interplay between geography and health service organization. By comparing the associations related to travel-time to primary and secondary healthcare facilities in two neighbouring countries, Denmark and Scotland, we aimed to shed light on potential mechanisms. MethodsAnalysis was based on two comprehensive cohorts of patients diagnosed with colorectal cancer in Denmark (2010−16) and Scotland (2007−14). Associations between travel-time and cancer pathway intervals, tumour stage at diagnosis and one-year mortality were analysed using generalised linear models. Travel-time was modelled using restricted cubic splines for each country and combined. Adjustments were made for key confounders. ResultsTravel-time to key healthcare facilities influenced the diagnostic experience and outcomes of CRC patients from Scotland and Denmark to some extent differently. The longest travel-times to a specialised hospital appeared to afford the most rapid secondary care interval, whereas moderate travel-times to hospital (about 20−60 min) appeared to impact on later stage and greater one-year mortality in Scotland, but not in Denmark. A U-shaped association was seen between travel-time to the GP and one year-mortality. ConclusionsThis is the first international data-linkage study to explore how different national geographies and health service structures may determine cancer outcomes. Future research should compare more countries and more cancer sites and evaluate the impact and implications of differences in national health service organisation.

Modern approaches to the diagnosis of malignant trophoblastic tumors

Malignant trophoblastic tumors (TO) include invasive and metastatic cystic drift, choriocarcinoma, TO of the placental bed, and epithelioid TO. They are rare, mainly in women of reproductive age, and most importantly, they are always associated with pregnancy. To date, the Blokhin National Medical Research Center of Oncology has accumulated a large and unique experience of modern diagnostics and treatment of patients with various forms of malignant TO. An obligatory stage of the examination is ultrasound diagnostics of the pelvic organs. In addition, performing an ultrasound examination during the treatment period, along with monitoring the level of chorionic gonadotropin, makes it possible to assess the effectiveness of treatment, diagnose tumor resistance and ascertain the onset of remission.

A race against time: couples’ lived diagnostic journeys to young-onset dementia

Purpose Young onset dementias (YOD) – typically defined by symptom onset before age 65 – are frequently overlooked in medical and community settings. Persons with YOD and their spouses face logistical and emotional challenges on their journey to a diagnosis (e.g. uncertainty about symptoms, lack of medical knowledge, emotional distress). An in-depth understanding of couples’ experiences before and immediately following a YOD diagnosis is warranted to inform early psychosocial services for couples. Methods We utilized dyadic qualitative semi-structured interviews (N = 23) to better understand the nuances of couples’ pre-diagnostic and diagnostic experiences with YOD. We used a hybrid of deductive and inductive analytic strategies to identify couple-level themes. Results Fifteen couple-level themes were extracted within four domains: (1) early indicators of symptoms, (2) obtaining a diagnosis, (3) experiences with health care providers, and (4) emotional reactions to the diagnosis. Couples expressed difficulties communicating about early symptoms, receiving accurate and timely diagnostic information, and managing multiple emotions. They described the value of working together to manage care, gain information, establish positive relationships with providers, and promote adjustment. Conclusion Findings highlight the shared experiences of couples during the early stages of YOD, including the importance of strong communication with each other and providers. Early and accessible psychosocial services that help couples cope with and communicate about individual and shared stressors are warranted.

By artificial intelligence algorithms and machine learning models to diagnosis cancer

Cancer is one of the world's most critical health issues. Many in the past decade More accurately, diagnostic tests and methodologies have been enhanced. Tests are categorised into imaging tests, endoscopic procedures Includes testing for biopsy and cytology. These diagnostic tests yield huge numbers. volumes of data that must be evaluated and differentiated by specialists Between tumours that are benign and malignant. Artificial intelligence now (AI) Large quantities of diagnostic imaging may be examined using applications Improved accuracy to enhance health system efficiency. New AI algorithms technical advances and computer enhancements Hardware may be used to train diagnostic neural artificial networks Experience with a wide range of scans. Already a thorough understanding and Machines can educate computers to compare and assess models Huge quantity of cancer scanning data. Highly diagnostic skills Software has been evaluated and compared to the conventional Cancer specialists' diagnostic tools. Their precision is much increased and regarded highly effective in early diagnosis and extended forecasting Different cancers. Scientists have become systems of artificial intelligence (AI). that may exceed human specialists in the prognosis of breast cancer and A great deal earlier diagnosis. Similarly, informatics developed an AI algorithm. and profound learning algorithms that may forecast to which persons Develop lung cancer using low dose CT analysis (computerized tomography) Lung scans. Lung scans. Use of the convolutionary neural network recently (CNNs) was employed in the invasion depth diagnosis of Gastric endoscopy-based gastric cancer. Studies have also been shown AI techniques paired with imagery may have a significant influence early diagnosis with algorithm-guided identification of oral cancer results Heterogeneity of the oral lesion. This review gathered some pretty interesting information Research publications on the topic.

Vladimir Karlov is the founder of the Chair of Neurology (Faculty of Therapy, Yevdokimov Moscow State University of Medicine and Dentistry). Methodology: priorities of domestic medicine, nervism and clinicism

The report presents the main areas of work of the Chair of Nervous Diseases (Faculty of Therapy, Yevdokimov Moscow State University of Medicine and Dentistry). The rich experience of clinical and instrumental diagnostics obtained by the staff of the department for half a century of its existence is shown. Special attention is paid to the role of thermal imaging and ultrasound in the early diagnosis of various vascular pathologies.

Reporting the whole story: Analysis of the 'out-of-scope' questions from the James Lind Alliance Teenage and Young Adult Cancer Priority Setting Partnership Survey.

ObjectiveWe conducted a UK‐wide survey to identify the top 10 research questions for young people's cancer. We conducted secondary analysis of questions submitted, which were ‘out‐of‐scope’ of the original survey aim. We sought to disseminate these questions, to inform practice, policy and the development of potential interventions to support young people with cancer.DesignJames Lind Alliance Priority Setting Partnership.ParticipantsYoung people aged 13‐24 with a current/previous cancer diagnosis, their families/friends/partners and professionals who work with this population.MethodsEight hundred and fifty‐five potential research questions were submitted, and 326 were classified as ‘out‐of‐scope’. These questions, along with 49 ‘free‐text’ comments, were analysed using thematic analysis.ResultsThe 375 out‐of‐scope questions and comments were submitted by: 68 young people, 81 family members/partners/friends and 42 professionals. Ten overarching themes were identified: diagnostic experience; communication; coordination of care; information needs and lack of information; service provision; long‐term effects and aftercare support; family support; financial impact; end‐of life care; and research methods and current research.ConclusionsThe need to tailor services, information and communication is a striking thread evidenced across the ‘out‐of‐scope’ questions. Gaps in information highlight implications for practice in revisiting information needs throughout the cancer trajectory. We must advocate for specialist care for young people and promote the research priorities and these findings to funding bodies, charities, young people and health and social care policymakers, in order to generate an evidence base to inform effective interventions across the cancer trajectory and improve outcomes.Patient/public contributionsPatients and carers were equal stakeholders throughout.

Management of appendiceal neuroendocrine tumors in the light of new guidelines.

Appendiceal neuroendocrine tumors (ANETs) are the most common in the appendix, detected in histopathological appendectomy specimens, which are resected for acute appendicitis. If tumor detection does not show signs of metastatic disease or obvious features of carcinoid syndrome, preoperative diagnosis remains a challenge. However, the treatment and follow-up algorithm change over time. In our study, we aimed to present 10years of diagnostic and management experience. A retrospective study of all patients who underwent emergency appendectomy, with the intention to treat clinically acute appendicitis at Bakirkoy Dr. Sadi Konuk Hospital (Istanbul, Turkey), was undertaken. Patients with diagnoses other than ANETs were excluded. Age, gender, preoperative clinical findings, operative procedure, and histopathological results identified as ANETs were evaluated. ANETs were detected in 24 patients (0.42%) in the histopathological examination of 5720 appendectomy specimens between December 2011 and October 2020. Mean age of patients was 30years, with 58.3% female. The majority were located at the tip of appendix (62.5%). Eleven patients (45.83%) were graded as T1, one patient (4.16%) as T2, 11 (41.83%) as T3, and one patient (4.16%) as T4. Secondary hemicolectomy was performed in four patients. Median postoperative follow-up was 43 (17-108) months. In addition, ANETs are rare and largely detected by chance; therefore, precise examination of routine appendectomy specimens is essential for diagnosis. Accurate tumor staging, in light of new algorithms, has an important place in follow-up and treatment management.

The Impact of Diagnostic Decisions on Patient Experience in the Pediatric Emergency Department.

Patient experience serves as both a subjective measure of value-based health care delivery and a metric to inform operational decision making. The objective of this study was to determine if specific diagnostic and therapeutic interventions affect patient experience scores for children seen in the emergency department. We performed a retrospective observational study in the emergency department of a large quaternary care children's hospital on patients who were discharged to home and later completed a National Research Corporation Health patient experience survey. We matched the survey results to electronic health record (EHR) data and were able to extract demographics, operational metrics, and order information for each patient. We performed multiple logistic regression analyses to determine the association of image acquisition, laboratory test ordering, medication administration, and discharge prescribing with likelihood to recommend the facility as our measure of patient experience. Of the 4103 patients who met inclusion criteria for the study, 75% strongly recommended the facility. Longer wait times were associated with lower patient experience scores [odds ratio (OR) per waiting room hour increase, 0.72; 95% confidence interval (CI), 0.65-0.81]. Significant diagnostic factors associated with higher patient experience included magnetic resonance imaging ordering (OR, 2.38; 95% CI, 1.00-5.67), x-ray ordering (OR, 1.19; 95% CI, 1.00-1.42), and electrocardiogram ordering (OR, 1.62; 95% CI, 1.07-2.44). Of the treatment factors studied, only antibiotic prescribing at discharge was found to have a significant positive association with patient experience (OR, 1.32; 95% CI, 1.08-1.63). The positive association between more intensive diagnostic workups and patient experience could have implications on the utility of patient experience scores to evaluate pediatric care teams. Consideration should be taken to interpret patient experience scores in the context of compliance with approaches in evidence-based medicine.

Spanning from diagnosticity to serendipity: An empirical investigation of consumer responses to product presentation

This study examines the effects of different product presentation strategies (i.e., alternative- vs. attribute-based) on consumer responses to diagnostic and serendipitous website experiences. Drawing on the accessibility-diagnosticity framework, we propose that different types of information presentation strategies lead consumers to differently evaluate a website as being diagnostic and serendipitous. The findings from three studies suggest that attribute-based presentations effectively increase consumer perceptions of website diagnosticity and serendipity compared with an alternative-based format. Both perceived diagnosticity and serendipity significantly contribute to consumers’ overall satisfaction with a website. Theoretical and practical implications are discussed.

Personal Experiences with Diagnostic Delay Among Axial Spondyloarthritis Patients: A Qualitative Study.

IntroductionOn average, patients with axial spondyloarthritis (axSpA) suffer from symptoms up to 13 or more years before diagnosis, contributing to psychological distress and healthcare burdenMethodsWe conducted six semi-structured focus groups with 26 axSpA patients (from 3 rheumatology practices located in the states of Massachusetts, Colorado, and Pensylvania, USA) exploring early disease and diagnostic experiences. Verbatim transcripts were coded using a start list with emerging thematic codes added. A qualitative thematic analysis was performedResultsMany participants described meandering and frustrating diagnostic journeys. Participants reported that intermittent axSpA symptoms and idiopathic pain contributed to physician confusion and delay in patients seeking care. Participants were sometimes perceived as somaticizing, drug-seeking, or “crazy.” Diagnostic delay led to frustration and mental suffering. Doctors “giving up” was considered profoundly negative. Stories of symptoms fell into five areas: (1) pain; (2) stiffness; (3) impact on sleep; (4) impact on daily activities; and (5) changes with weather. Self-advocacy and family advocacy were considered essential. Participants suggested wider use of HLA-B27 testing and development of a definitive diagnostic testConclusionMost participants described significant suffering prior to axSpA diagnosis which could have been avoided with earlier intervention. Further research on the early disease experiences of axSpA patients is needed.Supplementary InformationThe online version contains supplementary material available at 10.1007/s40744-021-00321-z.

Patient and Relative Experiences and Decision-making About Genetic Testing and Counseling for Familial ALS and FTD: A Systematic Scoping Review.

Genetic testing and counseling is an emerging part of care for patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and their families. This scoping review aimed to map patients' and relatives' experiences of genetic testing and counseling for familial ALS and FTD and the factors influencing their decision to proceed with testing or counseling. Informed by the Joanna Briggs Institute methodology, 5 databases were systematically searched. Thirty studies from 39 references were included. A descriptive numerical summary analysis and narrative synthesis was conducted. Mostly positive diagnostic testing experiences were reported, but issues arose due to progressive disease and discordant results. Predictive testing impacted at-risk relatives, regardless of the result received, and psychosocial sequelae ranged from relief to guilt, worry or contemplating suicide. Four reproductive testing experiences were reported. Personal, familial and practical factors, and the lived experience of disease, informed decision-making. Greater uncertainty and complexity may be faced in familial ALS/FTD than in other late-onset neurodegenerative diseases due to clinical and genetic heterogeneity, and testing limitations. Genetic counseling models of care should consider this difference to ensure that individuals with, or at risk of, ALS/FTD are effectively managed. Implications for research and practice are discussed.

Investigating the consequence of chronic exposure to radiation on renal biomarkers among selected radiologic technologists

Introduction: Chronic radiation exposure, particularly among technicians using medical imaging instruments, may contribute to chronic disease, including renal dysfunction. Investigating the potential association of this exposure with biochemical changes may assist disease detection and prevention. Objectives: The study explores the risk of renal dysfunction among radiologic technologists (RTs) with ten years or more of diagnostic imaging experience to evaluate the association of accumulated radiation doses and possible renal injury. Patients and Methods: A retrospective analysis was performed on the effective accumulative radiation dose from 2009 to 2019 among RTs of radiological department at a general hospital in southern Saudi Arabia. Blood samples were collected, and key biomarkers analyzed using a fully automated biochemical analyzer. Serum levels of the following were measured; sodium, gamma-glutamyl transferase (GGT), chloride, creatine kinase (CK), calcium, albumin, urea, creatinine, lactate dehydrogenase, total protein and potassium. In statistical analysis, P<0.05 was considered significant. Results: Even with exposure to only low-level radiation sources, RTs were statistically predisposed to variation in biochemical profiles. RTs exhibited GGT and CK levels higher than that of controls, while serum chloride was significantly low. Conclusion: The current study found a significant change in renal biochemical profiles among RTs who had worked in a radiological department for more than ten years. The association between GGT, CK with Kidney diseases was reported in several reports. Chronic exposure to radiation may contribute to a rise in GGT and CK levels and reduction of chloride and thus could develop the risk of renal diseases.

A systematic review of parents’ experiences of raising a child with type 1 diabetes

Background: There are currently 1.1 million young people estimated to have type 1 diabetes (T1D) across the world. A diagnosis of T1D impacts not only the children’s lives but also those of the parents.Aim: To understand the experiences of parents raising a child with T1D.Methods: For inclusion, studies had to report qualitative data on parents' experiences of raising a child with a diagnosis of T1D. Parents included mothers, fathers or any other primary caregivers. Eleven databases were systematically searched for relevant articles. Studies were quality assessed and study characteristics extracted. The data were thematically synthesised.Results: Thirty-two studies met the inclusion criteria. Thematic synthesis yielded two analytical themes: ‘adjusting to a new reality’ and ‘navigating appropriate T1D support’. The five descriptive themes that contributed to these were ‘distressing diagnostic experience’, ‘change of life routine’, ‘enablers and barriers to support from others’, ‘reconstruction of family dynamics’ and ‘psychological impact over time’.Conclusions: Difficulties parents encounter in support received from school and healthcare professionals are highlighted. Parents’ mental health needs should be attended to throughout T1D clinic appointments. Future research should explore fathers' experiences, as well as characteristics (such as employment status, education, relationship status and underlying mental health issues) which may affect parental experience, given the paucity of existing evidence.

Graph-Evolving Meta-Learning for Low-Resource Medical Dialogue Generation

Human doctors with well-structured medical knowledge can diagnose a disease merely via a few conversations with patients about symptoms. In contrast, existing knowledge-grounded dialogue systems often require a large number of dialogue instances to learn as they fail to capture the correlations between different diseases and neglect the diagnostic experience shared among them. To address this issue, we propose a more natural and practical paradigm, i.e., low-resource medical dialogue generation, which can transfer the diagnostic experience from source diseases to target ones with a handful of data for adaptation. It is capitalized on a commonsense knowledge graph to characterize the prior disease-symptom relations. Besides, we develop a Graph-Evolving Meta-Learning (GEML) framework that learns to evolve the commonsense graph for reasoning disease-symptom correlations in a new disease, which effectively alleviates the needs of a large number of dialogues. More importantly, by dynamically evolving disease-symptom graphs, GEML also well addresses the real-world challenges that the disease-symptom correlations of each disease may vary or evolve along with more diagnostic cases. Extensive experiment results on the CMDD dataset and our newly-collected Chunyu dataset testify the superiority of our approach over state-of-the-art approaches. Besides, our GEML can generate an enriched dialogue-sensitive knowledge graph in an online manner, which could benefit other tasks grounded on knowledge graph.

Screening for ROS1 fusions in patients with advanced non-small cell lung carcinomas using the VENTANA ROS1 (SP384) Rabbit Monoclonal Primary Antibody

ABSTRACT Introduction: The development of several ROS1 inhibitors means that the importance of accurately identifying ROS1-positive lung cancer patients has never been greater. Therefore, it is crucial that ROS1 testing assays become more standardized. Areas covered: Based on primary literature, combined with personal diagnostic and research experience, this review provide a pragmatic update on the use of the recently released VENTANA ROS1 (SP384) Rabbit Monoclonal Primary Antibody. Expert opinion: This assay provides high sensitivity, so it is an excellent analytical option when screening for ROS1 fusions in patients with advanced non-small cell lung carcinomas.

Thoracic Outlet Syndrome: Rare, Often Missed or Over-Diagnosed?

Thoracic Outlet Syndrome: Rare, Often Missed or Over-Diagnosed? Abstract. The thoracic outlet syndrome (TOS) presents with various symptoms caused by compression of the neurovascular bundle in the region of the upper thoracic aperture. Since the pathogenesis also determines the therapy of TOS, the classification according to the affected structure into neurogenic, venous and arterial TOS (nTOS, vTOS and aTOS) is useful. However, mixed forms are often to be assumed, which are then usually also classified under the term 'non-specific or disputed TOS' in the group of nTOS. In the absence of a gold standard diagnostic test, accurate history taking and clinical examination continue to be of great importance. Diagnostic experience and therapeutic advances have led to hopeful possibilities in the challenging management of this condition.

The effects of examiner fatigue on the diagnostic accuracy of dental radiographs.

The aim of the study was to find out whether and to what extent the performance of dentists regarding diagnostic evaluation of dental radiographs is influenced by symptoms of fatigue. Over a period of 40 minutes, 21 dentists evaluated a database of 96 randomly selected, infinitely repeating intraoral dental radiographs for the presence of periapical radiolucencies. Both before and after, participants were asked to assess their subjective fatigue using the Swedish Occupational Fatigue Inventory (SOFI), Visual Analogue Scale (VAS), and Numerical Rating Scale (NRS). Diagnostic accuracy was analyzed using the Receiver Operating Characteristics (ROC) method. Furthermore, the correlation between diagnostic accuracy and radiographic experience, image viewing time, and level of training was also evaluated. The study showed that despite increasing fatigue, the diagnostic accuracy of the examiners remained consistent with an average AUC value of 0.768 ± 0.091. Within the 40-min reporting period, no statistically significant fluctuations were found. The diagnostic accuracy varied depending on the radiographic experience: with many years of radiographic experience, the diagnostic accuracy increased. At the same time, the older study participants with greater radiographic experience became less tired compared to younger study participants during the examination. Although an increase in fatigue was observed during the 40-min examination, the diagnostic accuracy of the doctors remained constant. Due to the high workload which needs to be handled in a limited time, medical and dental professionals have reached a certain level of exposition to stress that can lead to physical fatigue. However, the increasing fatigue should not negatively influence the work of the doctors. The study shows that the radiodiagnostic accuracy remained the same.

Understanding the diagnostic delays and pathways for diabetes in eastern Uganda: A qualitative study.

Type 2 diabetes is rapidly becoming a significant challenge in Uganda and other low and middle-income countries. A large proportion of the population remains undiagnosed. To understand diagnostic delay, we explored the diagnostic pathways for diabetes among patients receiving care at a semi-urban district hospital in eastern Uganda. Eligible participants were patients aged 35-70 years receiving care at the diabetes clinic of Iganga district hospital between April and May 2019 and their healthcare providers. Patients were interviewed using an interview guide to collect information on patients' symptoms and their diagnostic experience. A separate interview guide was used to understand the organisation of the diabetes services and the diabetes diagnostic process at the hospital. Using maximum variation purposive sampling, we selected 17 diabetes patients aged 35-68 years, diagnosed within the previous three years, and the three health workers managing the diabetes clinic at Iganga hospital. The data was analysed using ATLAS.ti version 8 to code, organise and track the data segments. We conducted template analysis using a priori themes derived from the intervals of Walter's model of Pathways to Treatment to identify the factors influencing diagnostic delay. We identified four typologies: a short diagnostic pathway, protracted appraisal pathway, protracted appraisal and diagnostic interval pathway, and delayed treatment pathway. The pathways of patients with protracted appraisal or diagnostic intervals demonstrated strong socio-cultural influences. There was a firm reliance on traditional healers both before and after diagnosis which deferred enrolment into care. Other health system barriers implicated in delayed diagnosis included stock-out of diagnostic supplies, misdiagnosis, and missed diagnosis. Denial of diagnosis was also found to lead to delayed initiation of care. Reducing diagnostic delay requires addressing both negative socio-cultural influences and the adoption of system-wide interventions to address barriers to timely diagnosis.