Noninvasive Diagnostic Approach to a Rare Variant of Takotsubo Syndrome: From ESC Guidelines to Real World.
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ABSTRACT:
SUBMITTER: D'Angelo T
PROVIDER: S-EPMC8388316 | biostudies-literature |
REPOSITORIES: biostudies-literature
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| S-EPMC10956955 | biostudies-literature
Project description:In the era of evidence-based medicine, several clinical guidelines were developed, supporting cancer management from diagnosis to treatment and aiming to optimize patient care and hospital resources. Nevertheless, individual patient characteristics and organizational factors may lead to deviations from these standard recommendations during clinical practice. In this context, process mining in healthcare constitutes a valid tool to evaluate conformance of real treatment pathways, extracted from hospital data warehouses as event log, to standard clinical guidelines, translated into computer-interpretable formats. In this study we translate the European Society of Medical Oncology guidelines for rectal cancer treatment into a computer-interpretable format using Pseudo-Workflow formalism (PWF), a language already employed in pMineR software library for Process Mining in Healthcare. We investigate the adherence of a real-world cohort of rectal cancer patients treated at Fondazione Policlinico Universitario A. Gemelli IRCCS, data associated with cancer diagnosis and treatment are extracted from hospital databases in 453 patients diagnosed with rectal cancer. PWF enables the easy implementation of guidelines in a computer-interpretable format and visualizations that can improve understandability and interpretability of physicians. Results of the conformance checking analysis on our cohort identify a subgroup of patients receiving a long course treatment that deviates from guidelines due to a moderate increase in radiotherapy dose and an addition of oxaliplatin during chemotherapy treatment. This study demonstrates the importance of PWF to evaluate clinical guidelines adherence and to identify reasons of deviations during a treatment process in a real-world and multidisciplinary setting.
| S-EPMC10231435 | biostudies-literature
Project description:Objective: Next-generation sequencing (NGS) technology, changing the diagnostic approach, has become essential in clinical settings, and its adoption by public health laboratories is now the practice. Despite this, as technological innovations, its intake requires an evaluation of both the clinical utility and the economic investment, especially considering the rare disease scenario. This study evaluated the analytical validity and the budget impact of an NGS-Ion Torrent™ approach for the molecular germline diagnosis of two musculoskeletal rare diseases. Methods: Two cohorts of 200 and 199 patients with suspect or clinical diagnosis of multiple osteochondromas (MO) and osteogenesis imperfecta (OI) previously evaluated with a single-gene diagnostic protocol were re-analyzed using a targeted NGS assay. Analytical validity was assessed by comparing NGS and single-gene protocol. A budget impact analysis using real-world cost data-considering the healthcare perspective- was performed by applying activity-based costing (ABC). The cost considered consumables, personnel, and equipment. Additional costs not related to NGS activities were not considered. Sensitivity analysis was performed. Results: The NGS method showed a higher (for MO) and comparable (for OI) diagnostic sensitivity than the traditional techniques, apart from always reducing the time and costs of diagnosis. Overall, the cost saving per patient is € 765 for OI and € 74 for MO. Materials represented the highest cost driver of the NGS process. A time saving-proportional to the panel size-has been assessed in both cases. Conclusions: Our targeted NGS diagnostic approach decreases time to diagnosis and costs, appearing to be beneficial and recommended both for patients and from a healthcare perspective in routine diagnosis also considering very small gene panels and a low patient flow. The adequate analytical sensitivity always required the additional Sanger sequencing step of the low- and non-covered regions. A more accurate strategy evaluation is suggested in the case of ultra-rare/complex diseases, large gene-panel, or non-reference diagnostic centers.
| S-EPMC9207266 | biostudies-literature
Project description:BackgroundLittle is known about the reasoning mechanisms used by physicians in decision-making and how this compares to diagnostic clinical practice guidelines. We explored the clinical reasoning process in a real life environment.MethodThis is a qualitative study evaluating transcriptions of sixteen physicians' reasoning during appointments with patients, clinical discussions between specialists, and personal interviews with physicians affiliated to a hospital in Brazil.ResultsFOUR MAIN THEMES WERE IDENTIFIED: simple and robust heuristics, extensive use of social environment rationality, attempts to prove diagnostic and therapeutic hypothesis while refuting potential contradictions using positive test strategy, and reaching the saturation point. Physicians constantly attempted to prove their initial hypothesis while trying to refute any contradictions. While social environment rationality was the main factor in the determination of all steps of the clinical reasoning process, factors such as referral letters and number of contradictions associated with the initial hypothesis had influence on physicians' confidence and determination of the threshold to reach a final decision.DiscussionPhysicians rely on simple heuristics associated with environmental factors. This model allows for robustness, simplicity, and cognitive energy saving. Since this model does not fit into current diagnostic clinical practice guidelines, we make some propositions to help its integration.
| S-EPMC2857648 | biostudies-literature
Project description:BACKGROUND:The development of sequencing techniques and statistical methods provides great opportunities for identifying the impact of rare genetic variation on complex traits. However, there is a lack of knowledge on the impact of sample size, case numbers, the balance of cases vs controls for both burden and dispersion based rare variant association methods. For example, Phenome-Wide Association Studies may have a wide range of case and control sample sizes across hundreds of diagnoses and traits, and with the application of statistical methods to rare variants, it is important to understand the strengths and limitations of the analyses. RESULTS:We conducted a large-scale simulation of randomly selected low-frequency protein-coding regions using twelve different balanced samples with an equal number of cases and controls as well as twenty-one unbalanced sample scenarios. We further explored statistical performance of different minor allele frequency thresholds and a range of genetic effect sizes. Our simulation results demonstrate that using an unbalanced study design has an overall higher type I error rate for both burden and dispersion tests compared with a balanced study design. Regression has an overall higher type I error with balanced cases and controls, while SKAT has higher type I error for unbalanced case-control scenarios. We also found that both type I error and power were driven by the number of cases in addition to the case to control ratio under large control group scenarios. Based on our power simulations, we observed that a SKAT analysis with case numbers larger than 200 for unbalanced case-control models yielded over 90% power with relatively well controlled type I error. To achieve similar power in regression, over 500 cases are needed. Moreover, SKAT showed higher power to detect associations in unbalanced case-control scenarios than regression. CONCLUSIONS:Our results provide important insights into rare variant association study designs by providing a landscape of type I error and statistical power for a wide range of sample sizes. These results can serve as a benchmark for making decisions about study design for rare variant analyses.
| S-EPMC6343276 | biostudies-other
Project description:Takotsubo cardiomyopathy (TC) is increasingly recognized in neurocritical care population especially in postmenopausal females. We are presenting a 61-year-old African American female with past medical history of epilepsy, bipolar disorder, and hypertension who presented with multiple episodes of seizures due to noncompliance with antiepileptic medications. She was on telemetry which showed ST alarm. Electrocardiogram (ECG) was ordered and showed ST elevation in anterolateral leads and troponins were positive. Subsequently Takotsubo cardiomyopathy was diagnosed by left ventriculography findings and absence of angiographic evidence of obstructive coronary artery disease. Echocardiogram showed apical hypokinesia, ejection fraction of 40%, and systolic anterior motion of mitral valve with hyperdynamic left ventricle, in the absence of intracoronary thrombus formation in the angiogram. Electroencephalography showed evidence of generalized tonic-clonic seizure. She was treated with supportive therapy. This case illustrates importance of ECG in all patients with seizure irrespective of cardiac symptoms as TC could be the cause of Sudden Unexpected Death in Epilepsy (SUDEP) and may be underdiagnosed and so undertreated.
| S-EPMC5546119 | biostudies-other
Project description:Dear Doctor Letters (DDLs, Direct Healthcare Professional Communications) from 2011 provided guidance regarding QTc-prolonging effects with risk of torsade de pointes during treatment with citalopram and escitalopram. This study examines the DDLs' effects on prescription behavior. Data from 8842 inpatients treated with citalopram or escitalopram with a primary diagnosis of major depressive disorder (MDD) were derived from a European pharmacovigilance study (Arzneimittelsicherheit in der Psychiatrie, AMSP) from 2001 to 2017. It was examined to what extent new maximum doses were adhered to and newly contraindicated combinations with QTc-prolonging drugs were avoided. In addition, the prescriptions of psychotropic drugs before and after DDLs were compared in all 43,480 inpatients with MDD in the data set. The proportion of patients dosed above the new limit decreased from 8 to 1% in patients ≤ 65 years and from 46 to 23% in patients > 65 years old for citalopram versus 14-5% and 47-31% for escitalopram. Combinations of es-/citalopram with other QTc-prolonging psychotropic drugs reduced only insignificantly (from 35.9 to 30.9%). However, the proportion of patients with doses of quetiapine > 150 mg/day substantially decreased within the combinations of quetiapine and es-/citalopram (from 53 to 35%). After the DDLs, prescription of citalopram decreased and of sertraline increased. The DDLs' recommendations were not entirely adhered to, particularly in the elderly and concerning combination treatments. This might partly be due to therapeutic requirements of the included population. Official warnings should consider clinical needs.
| S-EPMC9957836 | biostudies-literature
Project description:ObjectivesAccording to the 10th revision of the International Classification of Diseases, the main categories of tic disorders (F95.0, F95.1, and F95.2) follow a diagnostic hierarchy based on the duration and diversity of tic symptoms. The present study investigated the use of this diagnostic hierarchy in real-world clinical practice.MethodsBased on the National Health Insurance Service-National Health Information Database, the diagnosis of transient tic disorder (F95.0) made after a diagnosis of chronic motor or vocal tic disorder (F95.1) or Tourette's syndrome (F95.2) and diagnosis of chronic motor or vocal tic disorder (F95.1) made after a diagnosis of Tourette's syndrome (F95.2) were referred to as type A errors. The diagnosis of transient tic disorder (F95.0) repeated after a period of >12 months was referred to as type B error. Demographic and clinical differences according to the diagnostic error types were analyzed using analysis of variance, Student's t-tests, and chi-squared tests.ResultsMost participants (96.5%) were without errors in the diagnosis of tic disorders. Higher proportions of males (p=0.005) and antipsychotic prescriptions (p<0.001) were observed in patients with type A or B diagnostic errors. A higher proportion of health insurance holders was observed among those with type A errors (p=0.027).ConclusionErrors were absent in majority of the tic diagnoses in real-world clinical practice in terms of the diagnostic hierarchy.
| S-EPMC10568186 | biostudies-literature
Project description:There is a growing body of evidence that important aspects of human cognition have been marginalized, or overlooked, by traditional cognitive science. In particular, the use of laboratory-based experiments in which stimuli are artificial, and response options are fixed, inevitably results in findings that are less ecologically valid in relation to real-world behavior. In the present review we highlight the opportunities provided by a range of new mobile technologies that allow traditionally lab-bound measurements to now be collected during natural interactions with the world. We begin by outlining the theoretical support that mobile approaches receive from the development of embodied accounts of cognition, and we review the widening evidence that illustrates the importance of examining cognitive processes in their context. As we acknowledge, in practice, the development of mobile approaches brings with it fresh challenges, and will undoubtedly require innovation in paradigm design and analysis. If successful, however, the mobile cognition approach will offer novel insights in a range of areas, including understanding the cognitive processes underlying navigation through space and the role of attention during natural behavior. We argue that the development of real-world mobile cognition offers both increased ecological validity, and the opportunity to examine the interactions between perception, cognition and action-rather than examining each in isolation.
| S-EPMC5226959 | biostudies-other
Project description:Current endeavours in rare variant analysis are typically underpowered when investigating association signals from individual genes. We undertook an approach to rare variant analysis which utilises biological pathway information to analyse functionally relevant genes together. Conventional filtering approaches for rare variant analysis are based on variant consequence and are therefore confined to coding regions of the genome. Therefore, we undertook a novel approach to this process by obtaining functional annotations from the Combined Annotation Dependent Depletion (CADD) tool, which allowed potentially deleterious variants from intronic regions of genes to be incorporated into analyses. This work was undertaken using whole-genome sequencing data from the UK10K project. Rare variants from the KEGG pathway for arginine and proline metabolism were collectively associated with systolic blood pressure (P=3.32x10-5) based on analyses using the optimal sequence kernel association test. Variants along this pathway also showed evidence of replication using imputed data from the Avon Longitudinal Study of Parents and Children cohort (P=0.02). Subsequent analyses found that the strength of evidence diminished when analysing genes in this pathway individually, suggesting that they would have been overlooked in a conventional gene-based analysis. Future studies that adopt similar approaches to investigate polygenic effects should yield value in better understanding the genetic architecture of complex disease.
| S-EPMC5136291 | biostudies-literature