Published by De Gruyter

Volume 7 Issue 2

Issue of Diagnosis

Contents
Journal Overview

Publicly Available April 30, 2020

Editorials

Publicly Available January 28, 2020

The novel coronavirus (2019-nCoV) outbreak: think the unthinkable and be prepared to face the challenge

Giuseppe Lippi, Mario Plebani

Page range: 79-81

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Publicly Available April 21, 2020

COVID Blindness

Linden Brown

Page range: 83-84

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Opinion Paper

Publicly Available April 7, 2020

Health risks and potential remedies during prolonged lockdowns for coronavirus disease 2019 (COVID-19)

Giuseppe Lippi, Brandon M. Henry, Chiara Bovo, Fabian Sanchis-Gomar

Page range: 85-90

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Abstract

As coronavirus disease 2019 (COVID-19) pandemic continues, an increasing number of countries and territories are adopting restrictive measures based on physical (“social”) distancing, aimed at preventing human-to-human transmission and thereby limiting virus propagation. Nationwide lockdowns, encompassing mass quarantine under stay-at-home ordinances, have already been proven effective to contain the COVID-19 outbreak in some countries. Nevertheless, a prolonged homestay may also be associated with potential side effects, which may jeopardize people’s health and thus must be recognized and mitigated in a way without violating local ordinances. Some of the most important undesirable consequences of prolonged homestay such as physical inactivity, weight gain, behavioral addiction disorders, insufficient sunlight exposure and social isolation will be critically addressed in this article, which also aims to provide some tentative recommendations for the alleviation of side effects.

Original Articles

Publicly Available April 29, 2020

Clinical features, laboratory characteristics, and outcomes of patients hospitalized with coronavirus disease 2019 (COVID-19): Early report from the United States

Saurabh Aggarwal, Nelson Garcia-Telles, Gaurav Aggarwal, Carl Lavie, Giuseppe Lippi, Brandon Michael Henry

Page range: 91-96

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Abstract

Background Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome-coronavirus-2 (SARS-CoV2), is an ongoing pandemic that has already affected millions of patients worldwide, and is associated with significant morbidity and mortality burden. Although the clinical and laboratory characteristics of this illness have been reported in patients from China and Europe, data are scant in the United States. Methods We extracted data regarding all patients hospitalized at our hospital with COVID-19 infection between March 1 and April 4, 2020. Presenting signs and symptoms, laboratory and imaging findings, treatment, and complications were recorded from electronic medical records (EMRs). The primary composite endpoint was admission to intensive care unit (ICU), shock, or death. Results We had a total of 43 patients tested for COVID-19 at the emergency room (ER) or during hospitalization, 16 (37%) of whom were admitted with COVID-19 infection. The mean age was 65.5 years and 75% were males. The most common presenting symptoms were fever (94%), cough (88%), and dyspnea (81%). A loss of smell and taste sensations were reported by three (19%) patients. Low oxygen saturation was present in 38% of patients, whilst 31% were hypotensive on admission. Hyponatremia (50%), elevated C-reactive protein (CRP; 100%), and lactate dehydrogenase (LDH; 80%) were common. Acute renal failure, myocardial injury, and elevation in aminotransferases occurred in 69%, 19%, and 38% patients, respectively. The primary composite endpoint occurred in 50% of patients. A total of three patients died; all were aged 70 years or older. Conclusions Laboratory abnormalities and acute renal failure were common in hospitalized patients with SARS-CoV2 infection in our center. Admission to ICU and mechanical ventilation were common.

February 3, 2020

Patient perceptions of misdiagnosis of endometriosis: results from an online national survey

Allyson C. Bontempo, Lisa Mikesell

Page range: 97-106

Abstract

Background Endometriosis is an estrogen-dependent disease affecting 10% of females in which endometrial-like tissue grows outside the uterus, resulting in pain, infertility, and physical and psychosocial dysfunction. Prior research documenting diagnostic error reports a 6.7-year mean diagnostic delay. This study takes a patient-oriented approach and aims to complement prior research on diagnostic error by examining patient-reported experiences with misdiagnosis. Methods Data were part of a larger online survey comprising nonrandomly sampled patients with self-reported surgically confirmed endometriosis (n = 758). We examined patients’ reports of misdiagnosis, to which healthcare professionals (HCPs) they attributed misdiagnosis, mean diagnostic delay, and endometriosis symptoms and physical sites predicting misdiagnosis reports. Results Mean reported diagnostic delay was 8.6 years. 75.2% of patients reported being misdiagnosed with another physical health (95.1%) and/or mental health problem (49.5%) and most frequently by gynecologists (53.2%) followed by general practitioners (34.4%). Higher odds of reporting a physical or mental health misdiagnosis was associated with reports of virtually all symptoms and endometriosis on the bladder, small bowel, pelvic sidewall, and rectum. Higher odds of reporting a physical health misdiagnosis was exclusively associated with reports of endometriosis on the appendix. Higher odds of reporting a mental health misdiagnosis was exclusively associated with reports of a younger symptom onset age; endometriosis on the diaphragm, large bowel, lung, and ureter; and comorbid adenomyosis diagnosis. Conclusions Endometriosis continues to present serious and complex diagnostic challenges. These findings corroborate previous objective investigations documenting endometriosis diagnostic error, establish the first patient-reported incidence, and further demonstrate value in including patients in diagnostic error research.

January 9, 2020

A survey of outpatient Internal Medicine clinician perceptions of diagnostic error

John C. Matulis, Susan N. Kok, Eugene C. Dankbar, Andrew J. Majka

Page range: 107-114

Abstract

Background Little is known about how practicing Internal Medicine (IM) clinicians perceive diagnostic error, and whether perceptions are in agreement with the published literature. Methods A 16-question survey was administered across two IM practices: one a referral practice providing care for patients traveling for a second opinion and the other a traditional community-based primary care practice. Our aim was to identify individual- and system-level factors contributing to diagnostic error (primary outcome) and conditions at greatest risk of diagnostic error (secondary outcome). Results Sixty-five of 125 clinicians surveyed (51%) responded. The most commonly perceived individual factors contributing to diagnostic error included atypical patient presentations (83%), failure to consider other diagnoses (63%) and inadequate follow-up of test results (53%). The most commonly cited system-level factors included cognitive burden created by the volume of data in the electronic health record (EHR) (68%), lack of time to think (64%) and systems that do not support collaboration (40%). Conditions felt to be at greatest risk of diagnostic error included cancer (46%), pulmonary embolism (43%) and infection (37%). Conclusions Inadequate clinician time and sub-optimal patient and test follow-up are perceived by IM clinicians to be persistent contributors to diagnostic error. Clinician perceptions of conditions at greatest risk of diagnostic error may differ from the published literature.

October 24, 2019

Thresholds, rules and defensive strategies: how physicians learn from their prior diagnosis-related experiences

Norbert Donner-Banzhoff, Beate Müller, Martin Beyer, Jörg Haasenritter, Carola Seifart

Page range: 115-121

Abstract

Background Health professionals are encouraged to learn from their errors. Determining how primary care physicians (PCPs) react to a case, in which their original diagnosis differed from the final outcome, could provide new insights on how they learn from experiences. We explored how PCPs altered their diagnostic evaluation of future patients after cases where the originally assumed diagnosis turned out to be wrong. Methods We asked German PCPs to complete an online survey where they described how the patient concerned originally presented, the subsequent course of events and whether they would change their diagnostic work-up of future patients. Qualitative methods were used to analyze narrative text obtained by this survey. Results A total of 29 PCPs submitted cases, most of which were ultimately found to be more severe than originally assumed. PCPs (n = 27) reflected on changes to their subsequent clinical decisions in the form of general maxims (n = 20) or more specific rules (n = 11). Most changes would have resulted in a lower threshold for investigations, referral and/or a more extensive collection of diagnostic information. PCPs decided not only to listen more often to their intuition (gut feelings), but to also practice more analytical reasoning. Participants felt the need for change of practice even if no clinical standards had been violated in the diagnosis of that case. Some decided to resort to defensive strategies in the future. Conclusions We describe mechanisms by which physicians calibrate their decision thresholds, as well as their cognitive mode (intuitive vs. analytical). PCPs reported the need for change in clinical practice despite the absence of error in some cases.

October 25, 2019

Updates to referring clinicians regarding critically ill children admitted to the pediatric intensive care unit: a state-wide survey

Christina L. Cifra, Cody R. Tigges, Sarah L. Miller, Loreen A. Herwaldt, Hardeep Singh

Page range: 123-128

Abstract

Background Front-line clinicians are expected to make accurate and timely diagnostic decisions before transferring patients to the pediatric intensive care unit (PICU) but may not always learn their patients’ outcomes. We evaluated the characteristics of post-transfer updates received by referring clinicians regarding PICU patients and determined preferences regarding content, delivery, and timing of such updates. Methods We administered an electronic cross-sectional survey to Iowa clinicians who billed for ≥5 pediatric patients or referred ≥1 patient to the University of Iowa (UI) PICU in the year before survey administration. Results One hundred and one clinicians (51 non-UI, 50 UI-affiliated) responded. Clinicians estimated that, on average, 8% of pediatric patients they saw over 1 year required PICU admission; clinicians received updates on 40% of patients. Seventy percent of UI clinicians obtained updates via self-initiated electronic record review, while 37% of non-UI clinicians relied on PICU communication (p = 0.013). Clinicians indicated that updates regarding diagnoses/outcomes will be most relevant to their practice. Among clinicians who received updates, 13% received unexpected information; 40% changed their practice as a result. Conclusions Clinicians received updates on less than half of the patients they referred to a PICU, although such updates could potentially influence clinical practice. Study findings will inform the development of a formal feedback system from the PICU to referring clinicians.

October 31, 2019

Diagnostic error in an ophthalmic emergency department

Harry Yip, Carmel Crock, Elsie Chan

Page range: 129-131

Abstract

Background Diagnostic error is a major preventable cause of harm to patients. There is currently limited data in the literature on the rates of misdiagnosis of doctors working in an ophthalmic emergency department (ED). Misdiagnosis was defined as a presumed diagnosis being proven incorrect upon further investigation or review. Methods In this retrospective audit, data was collected and analysed from 1 week of presentations at the Royal Victorian Eye and Ear Hospital (RVEEH) ED. Results There were 534 ophthalmic presentations during the study period. The misdiagnosis rates of referrers were: general practitioners (30%), optometrists (25.5%), external hospital EDs (18.8%), external hospital ophthalmology departments (25%) and private ophthalmologists (0%). Misdiagnosis rates of RVEEH doctors were: emergency registrars (7.1%), RVEEH residents (16.7%), first-year registrars (5.1%), second-year registrars (7.1%), third-year registrars (7.7%), fourth-year registrars (0%), senior registrars (6.9%), fellows (0%) and consultants (8.3%). Conclusions The misdiagnosis rates in our study were comparable to general medical diagnostic error rates of 10–15%. This study acts as a novel pilot; in the future, a larger-scale multi-centre audit of ophthalmic presentations to general emergency departments should be undertaken to further investigate diagnostic error.

August 31, 2019

Evaluation of the usefulness of the simultaneous assay of fecal hemoglobin (Hb) and transferrin (Tf) in colorectal cancer screening – for the establishment of the Hb and Tf two-step cutoff assay (HTTC assay)

Ichiro Hirata

Page range: 133-139

Abstract

Background One of the issues of fecal immunochemical test (FIT) is false-negativity caused by hemoglobin degradation by bacteria. We investigated the usefulness of the transferrin assay, which is stable toward bacteria. Methods The study included 1174 patients who visited our hospital and underwent colonoscopy for some symptoms or for cancer screening. We compared the hemoglobin-transferrin combination assay with the hemoglobin-alone assay using the Discrete Clinical Chemistry Analyzer NS-Plus and 1174 clinical samples. In the combination assay, two hemoglobin cutoff values (a) and (b) and one transferrin cutoff value (c) were set. Cases with values of (a) or more were defined as primary positive and values lower than (b) were defined as negative. Cases with values between (a) and (b) underwent the transferrin assay. Then, cases with values of (c) or higher were defined as secondary positive. All primary and secondary positive cases were defined as positive. Among the combination of cutoff values (a), (b) and (c), we identified Method A exhibiting high specificity and a positive predictive value (PPV), and Method B exhibiting the highest sensitivity. Results In Method A, the sensitivity of colorectal cancer detection increased from 67.3% to 68.2%, the specificity significantly (p = 0.0011) increased from 90.5% to 92.6%, and the PPV increased from 42.9% to 49.6% compared with the hemoglobin-alone assay. In Method B, the sensitivity increased significantly (p = 0.046) from 67.3% to 71.1% and the PPV increased from 42.9% to 44.8%. Conclusions This combination assay showed higher accuracy and effectiveness for colorectal cancer screening.

Case Report

March 30, 2019

Factitious thyrotoxicosis: how to find it

Pakaworn Vorasart, Chutintorn Sriphrapradang

Page range: 141-145

Abstract

Background Although the most common cause of thyrotoxicosis is Graves’ disease, the determination of the cause of thyrotoxicosis is important for establishing appropriate management. Diagnosis of surreptitious ingestion of thyroid hormones or factitious thyrotoxicosis often presents a difficult challenge especially in a patient with previously diagnosed Graves’ disease. The objective of this report was to demonstrate various approaches to support the diagnosis of factitious thyrotoxicosis. Case presentation We describe a patient with underlying Graves’ disease who underwent definitive therapy and needed long-term levothyroxine (LT4) replacement therapy. Later she developed thyrotoxicosis. Although factitious thyrotoxicosis was suspected because of very low thyroid uptake and low thyroglobulin (Tg) levels with the absence of thyroglobulin antibodies (TgAbs), she still refused any medication or substance use. After the administration of bile acid sequestrant, the thyroid hormone levels rapidly returned to normal within 1 month. Conclusions The diagnosis of factitious thyrotoxicosis is based upon the absence of goiter, suppressed serum Tg level, decreased radioactive iodine (RAI) uptake, and excellent response after cholestyramine treatment.

Letters to the Editors

December 20, 2019

Letter to the Editor re Olson et al. “Competencies for improving diagnosis: an interprofessional framework for education and training in healthcare”

John Peter Melrose

Page range: 147-148

Publicly Available April 28, 2020

Molecular diagnostics at the times of SARS-CoV-2 outbreak

Mario Plebani, Giuseppe Lippi

Page range: 149-150

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About this journal

Objective
Diagnosis is a subscription journal, which focuses on how diagnosis can be advanced, how it is taught, and how and why it can fail, leading to diagnostic errors. The journal welcomes both fundamental and applied works, improvement initiatives, opinions, and debates to encourage new thinking on improving this critical aspect of healthcare quality. Diagnosis is the official journal of the Society to Improve Diagnosis in Medicine.

Please submit your manuscript here

Topics

Factors that promote diagnostic quality and safety
Clinical reasoning
Diagnostic errors in medicine
The factors that contribute to diagnostic error: human factors, cognitive issues, and system-related breakdowns
Improving the value of diagnosis – eliminating waste and unnecessary testing
How culture and removing blame promote awareness of diagnostic errors
Training and education related to clinical reasoning and diagnostic skills
Advances in laboratory testing and imaging that improve diagnostic capability
Local, national and international initiatives to reduce diagnostic error

Article formats

Research Reports – Reports of original research
Short Communications – Reports of early research results and pilot studies
Reviews – Systematic, narrative, and focused reviews. Review articles are normally published by invitation, but suggestions to the Editors are welcome
Opinion Papers and Editorials
Letters to the Editor
Point/Counterpoint Papers
Guidelines and Recommendations
Innovations in diagnostic testing – Advances in laboratory testing or diagnostic imaging are appropriate subjects, or evaluations of recent innovations
Case Reports – Learning from Tragedy – Case reports of diagnostic error or dilemma discussed from a multi-stakeholder perspective; should include the facts of the case, a discussion focused on a root cause analysis, take-away points or action items resulting from the analysis, and whenever possible input from both the affected patients and their providers
Case Reports – Lessons in Clinical Reasoning: Pitfalls, Myths, and Pearls – Case reports in which a clinician discusses their diagnostic approach after clinical information is presented, focusing on a case in which a diagnostic error (or near miss = great catch) occurred
Patient-Focused Articles – Papers in this category should be written in lay language on a topic of interest to the patient stakeholder community
Diagnosis in the News – Brief reports of news-worthy advances in diagnosis, or problems involving diagnostic error

Volume 7 Issue 2

Issue of Diagnosis

Frontmatter

The novel coronavirus (2019-nCoV) outbreak: think the unthinkable and be prepared to face the challenge

COVID Blindness

Health risks and potential remedies during prolonged lockdowns for coronavirus disease 2019 (COVID-19)

Abstract

Clinical features, laboratory characteristics, and outcomes of patients hospitalized with coronavirus disease 2019 (COVID-19): Early report from the United States

Abstract

Patient perceptions of misdiagnosis of endometriosis: results from an online national survey

Abstract

A survey of outpatient Internal Medicine clinician perceptions of diagnostic error

Abstract

Thresholds, rules and defensive strategies: how physicians learn from their prior diagnosis-related experiences

Abstract

Updates to referring clinicians regarding critically ill children admitted to the pediatric intensive care unit: a state-wide survey

Abstract

Diagnostic error in an ophthalmic emergency department

Abstract

Evaluation of the usefulness of the simultaneous assay of fecal hemoglobin (Hb) and transferrin (Tf) in colorectal cancer screening – for the establishment of the Hb and Tf two-step cutoff assay (HTTC assay)

Abstract

Factitious thyrotoxicosis: how to find it

Abstract

Letter to the Editor re Olson et al. “Competencies for improving diagnosis: an interprofessional framework for education and training in healthcare”

Molecular diagnostics at the times of SARS-CoV-2 outbreak