Herpes zoster-encefalitis: een diagnostische uitdaging bij de geriatrische patiënt

Herpes zoster encephalitis: a diagnostic challenge in a geriatric patient Reactivation of the varicella zoster virus (VZV) is a prevalent disease and is - in addition to the typical vesicular rash - responsible for rare neurological conditions. Older people form a major group of concern, given the increasing risk of VZV reactivation at a higher age together with a higher risk of complications. Herpes zoster encephalitis is a rare but serious complication which often presents atypically, delaying the diagnostic process. In this article, the medical history of a patient with herpes encephalitis without the typical clinical and biochemical signs of infection is presented. This patient also suffered from Ramsay Hunt syndrome, another rare complication of VZV, characterized by vesicular rash in the ear and ipsilateral peripheral facial paralysis. Both diseases are briefly reviewed and the potential benefits of vaccination are discussed.

A clinical reasoning curriculum for medical students: an interim analysis

Objectives Diagnostic error is a critical patient safety issue that can be addressed in part through teaching clinical reasoning. Medical schools with clinical reasoning curricula tend to emphasize general reasoning concepts (e.g., differential diagnosis generation). Few published curricula go beyond teaching the steps in the diagnostic process to address how students should structure their knowledge to optimize diagnostic performance in future clinical encounters or to discuss elements outside of individual cognition that are essential to diagnosis. Methods In 2016, the University of California, San Francisco School of Medicine launched a clinical reasoning curriculum that simultaneously emphasizes reasoning concepts and intentional knowledge construction; the roles of patients, families, interprofessional colleagues; and communication in diagnosis. The curriculum features a longitudinal thread beginning in first year, with an immersive three week diagnostic reasoning (DR) course in the second year. Students evaluated the DR course. Additionally, we conducted an audit of the multiyear clinical reasoning curriculum using the Society to Improve Diagnosis in Medicine-Macy Foundation interprofessional diagnostic education competencies. Results Students rated DR highly (range 4.13–4.18/5 between 2018 and 2020) and reported high self-efficacy with applying clinical reasoning concepts and communicating reasoning to supervisors. A course audit demonstrated a disproportionate emphasis on individual (cognitive) competencies with inadequate attention to systems and team factors in diagnosis. Conclusions Our clinical reasoning curriculum led to high student self-efficacy. However, we stressed cognitive aspects of reasoning with limited instruction on teams and systems. Diagnosis education should expand beyond the cognitive- and physician-centric focus of most published reasoning courses.

Understanding Barriers to Diagnosis in a Rare, Genetic Disease: Delays and Errors Diagnosing Schwannomatosis

Diagnosis of rare, genetic diseases is challenging, but conceptual frameworks of the diagnostic process can be used to guide benchmarking and process improvement initiatives. Using the National Academy of Medicine diagnostic framework, we assessed the extent of, and reasons for, diagnostic delays and errors in schwannomatosis, a neurogenetic syndrome characterized by nerve sheath tumors and chronic pain. We reviewed the medical records of 97 patients with confirmed or probable schwannomatosis seen in two U.S. tertiary care clinics from 2005-2016. Survival analysis revealed a median time from first symptom to diagnosis of 16.7 years (95% CI, 7.5-26.0 years) and median time from first medical consultation to diagnosis of 9.8 years (95% CI, 3.5-16.2 years). Factors associated with longer times to diagnosis included initial signs/symptoms that were intermittent, non-specific, or occurred at younger ages (p<0.05). Thirty-six percent of patients experienced a misdiagnosis of underlying genetic condition (18.6%), pain etiology (16.5%) and/or tumor imaging/pathology (11.3%). One-fifth (19.6%) of patients had a clear missed opportunity for appropriate workup that could have led to an earlier schwannomatosis diagnosis. These results suggest that interventions in clinician education, genetic testing availability, expert review of pathology findings, and automatic triggers for genetics referrals may improve diagnosis in schwannomatosis.

Assessing and disclosing test results for ‘mild cognitive impairment’: the perspective of old age psychiatrists in Scotland

Background Mild cognitive impairment (MCI) is a condition that exists between normal healthy ageing and dementia with an uncertain aetiology and prognosis. This uncertainty creates a complex dynamic between the clinicians’ conception of MCI, what is communicated to the individual about their condition, and how the individual responds to the information conveyed to them. The aim of this study was to explore clinicians’ views around the assessment and communication of MCI in memory clinics. Method As part of a larger longitudinal study looking at patients’ adjustment to MCI disclosure, we interviewed Old Age Psychiatrists at the five participating sites across Scotland. The study obtained ethics approvals and the interviews (carried out between Nov 2020–Jan 2021) followed a semi-structured schedule focusing on [1] how likely clinicians are to use the term MCI with patients; [2] what tests clinicians rely on and how much utility they see in them; and [3] how clinicians communicate risk of progression to dementia. The interviews were voice recorded and were analysed using reflective thematic analysis. Results Initial results show that most clinicians interviewed (Total N = 19) considered MCI to have significant limitations as a diagnostic term. Nevertheless, most clinicians reported using the term MCI (n = 15/19). Clinical history was commonly described as the primary aid in the diagnostic process and also to rule out functional impairment (which was sometimes corroborated by Occupational Therapy assessment). All clinicians reported using the Addenbrooke’s Cognitive Examination-III as a primary assessment tool. Neuroimaging was frequently found to have minimal usefulness due to the neuroradiological reports being non-specific. Conclusion Our study revealed a mixture of approaches to assessing and disclosing test results for MCI. Some clinicians consider the condition as a separate entity among neurodegenerative disorders whereas others find the term unhelpful due to its uncertain prognosis. Clinicians report a lack of specific and sensitive assessment methods for identifying the aetiology of MCI in clinical practice. Our study demonstrates a broad range of views and therefore variability in MCI risk disclosure in memory assessment services which may impact the management of individuals with MCI.

Dealing With Brain MRI Findings in Pediatric Patients With Endocrinological Conditions: Less Is More?

Neuroimaging is a key tool in the diagnostic process of various clinical conditions, especially in pediatric endocrinology. Thanks to continuous and remarkable technological developments, magnetic resonance imaging can precisely characterize numerous structural brain anomalies, including the pituitary gland and hypothalamus. Sometimes the use of radiological exams might become excessive and even disproportionate to the patients’ medical needs, especially regarding the incidental findings, the so-called “incidentalomas”. This unclarity is due to the absence of well-defined pediatric guidelines for managing and following these radiological findings. We review and summarize some indications on how to, and even if to, monitor these anomalies over time to avoid unnecessary, expensive, and time-consuming investigations and to encourage a more appropriate follow-up of brain MRI anomalies in the pediatric population with endocrinological conditions.

Case Report: Hematoma Formation After Spontaneous Coronary Artery Rupture

We report a case of hematoma formation in the right coronary artery after spontaneous rupture. A 48-year-old female patient was admitted with a suspected right cardiac mass. Despite diagnostic work-up, the dignity of the mass could not be determined. Due to acute clinical symptoms, explorative surgery was decided and performed. Hereby, the mass was partially incised, and thrombus-like tissue was detected without active bleeding. We described the challenges during the diagnostic process, and the diagnosis was finally made according to a multimodality approach. For further assessment, we reviewed related literature and highlighted the importance of coronary angiography in the preoperative evaluation of such patients. The therapy may vary according to the location and size of such lesions.

Sinonasal Plasmablastic Lymphoma Arising in the Setting of Recurrent Nasal Polyposis in an Immunocompetent Individual

Plasmablastic lymphoma (PBL) is an aggressive, rare variant of B-cell lymphoma typically associated with human immunodeficiency virus and other immunocompromised populations. Most commonly found in the oral cavity, PBL can occasionally originate in the sinonasal tract. Diagnosis of PBL is difficult due to overlapping features with other malignancies; however, early detection and treatment are imperative given its aggressive clinical course. When in the sinonasal tract, the diagnostic process can be further complicated if the patient has a history of recurrent nasal polyposis. Described is the case of a 57-year-old immunocompetent male who initially presented with benign nasal polyposis, only to return a year after sinus surgery with a unilateral sinonasal mass consistent with PBL. As literature has yet to characterize this phenomenon, this article presents the first case reported of sinonasal PBL arising in the setting of recurrent nasal polyposis. This case emphasizes the importance of investigating sinonasal masses showing laterality, maintaining a high index of suspicion for malignancy, and keeping close surveillance of the patient after treatment of PBL.

Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics

The primary goal of precision genomics is the identification of causative genetic variants in targeted or whole-genome sequencing data. The ultimate clinical hope is that these findings lead to an efficacious change in treatment for the patient. In current clinical practice, these findings are typically returned by expert analysts as static, text-based reports. Ideally, these reports summarize the quality of the data obtained, integrate known gene–phenotype associations, follow allele segregation and affected status within the sequenced samples, and weigh computational evidence of pathogenicity. These findings are used to prioritize the variant(s) most likely to cause the given patient’s phenotypes. In most diagnostic settings, a team of experts contribute to these reports, including bioinformaticians, clinicians, and genetic counselors, among others. However, these experts often do not have the necessary tools to review genomic findings, test genetic hypotheses, or query specific gene and variant information. Additionally, team members often rely on different tools and methods based on their given expertise, resulting in further difficulties in communicating and discussing genomic findings. Here, we present clin.iobio—a web-based solution to collaborative genomic analysis that enables diagnostic team members to focus on their area of expertise within the diagnostic process, while allowing them to easily review and contribute to all steps of the diagnostic process. Clin.iobio integrates tools from the popular iobio genomic visualization suite into a comprehensive diagnostic workflow, encompassing (1) genomic data quality review, (2) dynamic phenotype-driven gene prioritization, (3) variant prioritization using a comprehensive set of knowledge bases and annotations, (4) and an exportable findings summary. In conclusion, clin.iobio is a comprehensive solution to team-based precision genomics, the findings of which stand to inform genomic considerations in clinical practice.

φYeO3-12 phage tail fiber Gp17 as a promising high specific tool for recognition of Yersinia enterocolitica pathogenic serotype O:3

Yersiniosis is an infectious zoonotic disease caused by two enteropathogenic species of Gram-negative genus Yersinia: Yersinia enterocolitica and Yersinia pseudotuberculosis. Pigs and other wild and domestic animals are reservoirs for these bacteria. Infection is usually spread to humans by ingestion of contaminated food. Yersiniosis is considered a rare disease, but recent studies indicate that it is overlooked in the diagnostic process therefore the infections with this bacterium are not often identified. Reliable diagnosis of Yersiniosis by culturing is difficult due to the slow growth of the bacteria easily overgrown by other more rapidly growing microbes unless selec-tive growth media is used. Phage adhesins recognizing bacteria in a specific manner can be an excellent diagnostic tool, es-pecially in the diagnosis of pathogens difficult for culturing. In this study, it was shown that Gp17, the tail fiber protein (TFP) of phage φYeO3-12, specifically recognizes only the pathogenic Yersinia enterocolitica serotype O:3 (YeO:3) bacteria. The ELISA test used in this work confirmed the specific interaction of this protein with YeO:3 and demonstrated a promising tool for developing the pathogen recognition method based on phage adhesins.

Diagnostic reasoning in cardiovascular medicine

ABSTRACT Research in cognitive psychology shows that expert clinicians make a medical diagnosis through a two step process of hypothesis generation and hypothesis testing. Experts generate a list of possible diagnoses quickly and intuitively, drawing on previous experience. Experts remember specific examples of various disease categories as exemplars, which enables rapid access to diagnostic possibilities and gives them an intuitive sense of the base rates of various diagnoses. After generating diagnostic hypotheses, clinicians then test the hypotheses and subjectively estimate the probability of each diagnostic possibility by using a heuristic called anchoring and adjusting. Although both novices and experts use this two step diagnostic process, experts distinguish themselves as better diagnosticians through their ability to mobilize experiential knowledge in a manner that is content specific. Experience is clearly the best teacher, but some educational strategies have been shown to modestly improve diagnostic accuracy. Increased knowledge about the cognitive psychology of the diagnostic process and the pitfalls inherent in the process may inform clinical teachers and help learners and clinicians to improve the accuracy of diagnostic reasoning. This article reviews the literature on the cognitive psychology of diagnostic reasoning in the context of cardiovascular disease.