DiagnosisPub Date : 2024-01-18eCollection Date: 2024-05-01DOI: 10.1515/dx-2023-0157
María de Lourdes Pastelín-Martínez, Moisés Manuel Gallardo-Pérez, Andrés Gómez-de-León, Juan Carlos Olivares-Gazca, Edgar Jared Hernández-Flores, Daniela Sánchez-Bonilla, Merittzel Montes-Robles, Max Robles-Nasta, Guillermo Ocaña-Ramm, Silvia Soto-Olvera, David Gómez-Almaguer, Guillermo J Ruiz-Delgado, Guillermo J Ruiz-Argüelles
{"title":"The consequences of delayed diagnosis and treatment in persons with multiple sclerosis given autologous hematopoietic stem cell transplantation.","authors":"María de Lourdes Pastelín-Martínez, Moisés Manuel Gallardo-Pérez, Andrés Gómez-de-León, Juan Carlos Olivares-Gazca, Edgar Jared Hernández-Flores, Daniela Sánchez-Bonilla, Merittzel Montes-Robles, Max Robles-Nasta, Guillermo Ocaña-Ramm, Silvia Soto-Olvera, David Gómez-Almaguer, Guillermo J Ruiz-Delgado, Guillermo J Ruiz-Argüelles","doi":"10.1515/dx-2023-0157","DOIUrl":"10.1515/dx-2023-0157","url":null,"abstract":"<p><strong>Objectives: </strong>We have analyzed the association of delayed both diagnosis and treatment of persons with MS with the long-term results of patients given autologous hematopoietic stem cell transplantation (aHSCT).</p><p><strong>Methods: </strong>Patients with MS referred to the HSCT-Mexico program were included in the study; in 103, detailed pre- and post-transplant evolution could be recorded. Two groups of patients were analyzed according to the time of evolution between the onset of symptoms and the definite diagnosis of MS: more than 8 months (delayed diagnosis, DD), or less than 8 months (non-delayed diagnosis, NDD). The progression of MS was assessed by changes in the expanded disability status scale (EDSS).</p><p><strong>Results: </strong>The time elapsed between the onset of symptoms and the correct diagnosis was lower for the NDD group (1.55 vs. 35.87 months, p<0.05). Both groups of patients showed a similar EDSS score at diagnosis (1.5 vs. 1.5); however, the EDSS at the time of the transplant was higher in the DD group (4.5 vs. 3.0, p=0.3) and the response of the EDSS score to the transplant was significantly better for the NDD group, the last EDSS scores being 2.5 vs. 4.25 (p=0.03). Both groups of patients responded to aHSCT by diminishing the EDSS, but the response was significantly better in the NDD group.</p><p><strong>Conclusions: </strong>These data indicate that both the pre-transplant progression of the disease and the response to aHSCT were significantly worse in the DD group. An early diagnosis and an early aHSCT intervention are critical for a good prognosis, in terms of lowering and stabilizing the motor disability in MS patients given autografts.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"164-170"},"PeriodicalIF":3.5,"publicationDate":"2024-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139478116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2024-01-05eCollection Date: 2024-05-01DOI: 10.1515/dx-2023-0134
Madeline H Peachey, Kristopher E Kubow, Kristina B Blyer, Julia A Halterman
{"title":"Use of saliva-based qPCR diagnostics for the accurate, rapid, and inexpensive detection of strep throat.","authors":"Madeline H Peachey, Kristopher E Kubow, Kristina B Blyer, Julia A Halterman","doi":"10.1515/dx-2023-0134","DOIUrl":"10.1515/dx-2023-0134","url":null,"abstract":"<p><strong>Objectives: </strong>Outpatient health care facilities are essential for quickly diagnosing common infectious diseases such as bacterial and viral pharyngitis. The only form of pharyngitis requiring antibiotics is strep throat (ST); however, antibiotic prescription rates are much higher than ST prevalence, suggesting antibiotics are being inappropriately prescribed. Current rapid ST diagnostics may be contributing to this problem due to the low sensitivity and variable specificity of these tests. It is best practice to verify a negative ST diagnosis with a group A <i>Streptococcus</i> (GAS) culture, but many clinics do not perform this test due to the additional cost and 24-72 h required to obtain results. This indicates there is great need for more accurate rapid diagnostic tools in outpatient facilities. We hypothesized that next generation qPCR technology could be adapted to detect GAS DNA from saliva samples (instead of the traditional throat swab) by creating a simple, fast, and inexpensive protocol.</p><p><strong>Methods: </strong>Saliva specimens collected from patients at James Madison University Health Center were used to test the effectiveness of our Chelex 100-based rapid DNA extraction method, followed by a fast protocol developed for the Open qPCR machine to accurately detect ST.</p><p><strong>Results: </strong>Our final saliva processing and qPCR protocol required no specialized training to perform and was able to detect ST with 100 % sensitivity and 100 % specificity (n=102) in 22-26 min, costing only $1.12 per sample.</p><p><strong>Conclusions: </strong>Saliva can be rapidly analyzed via qPCR for the accurate and inexpensive detection of ST.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"178-185"},"PeriodicalIF":3.5,"publicationDate":"2024-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139097547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2024-01-01eCollection Date: 2024-02-01DOI: 10.1515/dx-2023-0110
Mala Mahto, Visesh Kumar, Ayan Banerjee, Sushil Kumar, Anurag Kumar
{"title":"Pre-analytical errors in coagulation testing: a case series.","authors":"Mala Mahto, Visesh Kumar, Ayan Banerjee, Sushil Kumar, Anurag Kumar","doi":"10.1515/dx-2023-0110","DOIUrl":"10.1515/dx-2023-0110","url":null,"abstract":"<p><strong>Objectives: </strong>Prevention of pre-analytical issues in coagulation testing is of paramount importance for good laboratory performance. In addition to common issues like hemolysed, icteric, or lipemic samples, some specific pre-analytical errors of coagulation testing include clotted specimens, improper blood-to-anticoagulant ratio, contamination with other anticoagulants, etc. Prothrombin time (PT) and activated partial thromboplastin time (aPTT) are very commonly affected tests due to pre-analytical variables. The impact these parameters possess on surgical decision-making and various life-saving interventions are substantial therefore we cannot afford laxity and casual mistakes in carrying out these critical investigations at all.</p><p><strong>Case presentation: </strong>In this case series, a total of 4 cases of unexpectedly deranged coagulation profiles have been described which were reported incorrectly due to the overall casual approach towards these critical investigations. We have also mentioned how the treating clinician and lab physician retrospectively accessed relevant information in the nick of time to bring back reassurance.</p><p><strong>Conclusions: </strong>Like every other critical investigation, analytical errors can occur in coagulation parameters due to various avoidable pre-analytical variables. The release of spurious results for coagulation parameters sets alarm bells ringing causing much agony to the treating doctor and patient. Only a disciplined and careful approach taken by hospital and lab staff towards each sample regardless of its criticality can negate these stressful errors to a large extent.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"114-119"},"PeriodicalIF":3.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139058216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2024-01-01eCollection Date: 2024-02-01DOI: 10.1515/dx-2023-0159
Georgina Noel Marchiori, María Daniela Defagó, María Lucía Baraquet, Sebastián Del Rosso, Nilda Raquel Perovic, Elio Andrés Soria
{"title":"Interleukin-6, tumor necrosis factor-α, and high-sensitivity C-reactive protein for optimal immunometabolic profiling of the lifestyle-related cardiorenal risk.","authors":"Georgina Noel Marchiori, María Daniela Defagó, María Lucía Baraquet, Sebastián Del Rosso, Nilda Raquel Perovic, Elio Andrés Soria","doi":"10.1515/dx-2023-0159","DOIUrl":"10.1515/dx-2023-0159","url":null,"abstract":"<p><strong>Objectives: </strong>The present study aimed to identify optimal inflammatory biomarkers involved in cardiorenal risk in response to major lifestyle factors.</p><p><strong>Methods: </strong>One hundred and twenty-nine adults aged 35-77 years participated voluntarily from 2017 to 2019 (Córdoba, Argentina) in a cross-sectional study to collect sociodemographic, clinical, and lifestyle data. Blood biomarkers (different cytokines, monocyte chemoattractant protein-1 [MCP-1], and high-sensitivity C-reactive protein [hs-CRP]) were measured using standard methods and then evaluated by principal component analysis and structural equation modeling (SEM) according to Mediterranean diet adherence, physical activity level, and waist circumference, while cardiorenal risk involved blood diastolic pressure, HDL-cholesterol, triacylglycerols, creatinine, and glycosylated hemoglobin.</p><p><strong>Results: </strong>A principal component included TNF-α (tumor necrosis factor-alpha), IL-8 (interleukin-8), IL-6 (interleukin-6), hs-CRP, and MCP-1, with absolute rotated factor loadings >0.10. SEM showed that IL-6 (β=0.38, 95 % IC=0.08-0.68), hs-CRP (β=0.33, 95 % IC=0.17-0.48), and TNF-α (β=0.22, 95 % IC=0.11-0.32) were the mediators that better explained an inflammatory profile positively related to waist circumference (β=0.77, 95 % IC=0.61-0.94). Moreover, this profile was associated with an increased cardiorenal risk (β=0.78, 95 % IC=0.61-0.94), which was well-defined by the variable used.</p><p><strong>Conclusions: </strong>Immune mediators are key elements in profiling the cardiorenal risk associated with lifestyle factors, for which the combination of hs-CRP, IL-6, and TNF-α has emerged as a robust indicator. This work reaffirms the need for biomarker optimization for early diagnosis and risk assessment.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"82-90"},"PeriodicalIF":3.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139058215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2023-12-26eCollection Date: 2024-05-01DOI: 10.1515/dx-2023-0146
Qi Zhou, Fang Chen, Yan Wang, Wenjie Qu, Yingxin Gong, Yuankui Cao, Hongwei Zhang, Qing Wang, Limei Chen, Qing Cong, Lin Lin, Jiayin Mo, Tianyi Bi, Jingxin Ding, Long Sui, Yanyun Li
{"title":"Application of a diagnosis flow draft based on appearance impression for detection of vulvar disease.","authors":"Qi Zhou, Fang Chen, Yan Wang, Wenjie Qu, Yingxin Gong, Yuankui Cao, Hongwei Zhang, Qing Wang, Limei Chen, Qing Cong, Lin Lin, Jiayin Mo, Tianyi Bi, Jingxin Ding, Long Sui, Yanyun Li","doi":"10.1515/dx-2023-0146","DOIUrl":"10.1515/dx-2023-0146","url":null,"abstract":"<p><strong>Objectives: </strong>The aims of this retrospective study were to evaluate the clinical applicability of the latest International Society for the Study of Vulvovaginal Disease (ISSVD) and International Federation for Cervical Pathology and Colposcopy (IFCPC) terminology for vulvar diseases, and to explore a new evaluation flow to optimize decision-making on diagnosis.</p><p><strong>Methods: </strong>A total of 1,068 patients with 5,340 qualified vulvar images were evaluated by observers using 2011 ISSVD and 2011 IFCPC terminology systems. The sensitivity, specificity, positive predictive value, negative predictive value, Youden Index and Overall Diagnostic Value (ODV) were calculated for each finding in the two systems. Then the disease diagnosis order and a diagnosis flow draft (DFD) were obtained.</p><p><strong>Results: </strong>A total of 15 kinds of vulvar diseases were diagnosed. The proportion of patients accompanied with cervical or vaginal intraepithelial neoplasia was highest (83.3 %) in vulvar Paget's disease group (p<0.001). Total area of lesions was larger in vulvar Paget's disease, lichen simplex chronicus and lichen sclerosus group (p<0.001). Among the top five findings of ODV, some findings inferred several (≥6) kinds of diseases, while some findings only exist in a certain disease. When the DFD was used, the agreement between the initial impression and histopathology diagnosis was 68.8 %, higher than those when ISSVD an IFCPC terminology systems used (p=0.028), and it didn't change with the experience of the observer (p=0.178).</p><p><strong>Conclusions: </strong>Based on the findings in ISSVD and IFCPC terminology systems, we explored a DFD for observers with different experience on the detection of vulvar disease.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"151-163"},"PeriodicalIF":3.5,"publicationDate":"2023-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139032127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2023-12-20eCollection Date: 2024-02-01DOI: 10.1515/dx-2023-0075
Stephen K Liu, Fabienne Bourgeois, Joe Dong, Kendall Harcourt, Elizabeth Lowe, Liz Salmi, Eric J Thomas, Natalie Riblet, Sigall K Bell
{"title":"What's going well: a qualitative analysis of positive patient and family feedback in the context of the diagnostic process.","authors":"Stephen K Liu, Fabienne Bourgeois, Joe Dong, Kendall Harcourt, Elizabeth Lowe, Liz Salmi, Eric J Thomas, Natalie Riblet, Sigall K Bell","doi":"10.1515/dx-2023-0075","DOIUrl":"10.1515/dx-2023-0075","url":null,"abstract":"<p><strong>Objectives: </strong>Accurate and timely diagnosis relies on close collaboration between patients/families and clinicians. Just as patients have unique insights into diagnostic breakdowns, positive patient feedback may also generate broader perspectives on what constitutes a \"good\" diagnostic process (DxP).</p><p><strong>Methods: </strong>We evaluated patient/family feedback on \"what's going well\" as part of an online pre-visit survey designed to engage patients/families in the DxP. Patients/families living with chronic conditions with visits in three urban pediatric subspecialty clinics (site 1) and one rural adult primary care clinic (site 2) were invited to complete the survey between December 2020 and March 2022. We adapted the Healthcare Complaints Analysis Tool (HCAT) to conduct a qualitative analysis on a subset of patient/family responses with ≥20 words.</p><p><strong>Results: </strong>In total, 7,075 surveys were completed before 18,129 visits (39 %) at site 1, and 460 surveys were completed prior to 706 (65 %) visits at site 2. Of all participants, 1,578 volunteered positive feedback, ranging from 1-79 words. Qualitative analysis of 272 comments with ≥20 words described: Relationships (60 %), Clinical Care (36 %), and Environment (4 %). Compared to primary care, subspecialty comments showed the same overall rankings. Within Relationships, patients/families most commonly noted: thorough and competent attention (46 %), clear communication and listening (41 %) and emotional support and human connection (39 %). Within Clinical Care, patients highlighted: timeliness (31 %), effective clinical management (30 %), and coordination of care (25 %).</p><p><strong>Conclusions: </strong>Patients/families valued relationships with clinicians above all else in the DxP, emphasizing the importance of supporting clinicians to nurture effective relationships and relationship-centered care in the DxP.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"63-72"},"PeriodicalIF":3.5,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10875277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138800992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2023-12-12DOI: 10.1515/dx-2023-0099
Susrutha Kotwal, Amteshwar Singh, Sean Tackett, Anand Bery, Rodney Omron, Daniel Gold, David E. Newman-Toker, Scott M Wright
{"title":"Assessing clinical reasoning skills following a virtual patient dizziness curriculum","authors":"Susrutha Kotwal, Amteshwar Singh, Sean Tackett, Anand Bery, Rodney Omron, Daniel Gold, David E. Newman-Toker, Scott M Wright","doi":"10.1515/dx-2023-0099","DOIUrl":"https://doi.org/10.1515/dx-2023-0099","url":null,"abstract":"Abstract Objectives Dizziness is a common medical symptom that is frequently misdiagnosed. While virtual patient (VP) education has been shown to improve diagnostic accuracy for dizziness as assessed by VPs, trainee performance has not been assessed on human subjects. The study aimed to assess whether internal medicine (IM) interns after training on a VP-based dizziness curriculum using a deliberate practice framework would demonstrate improved clinical reasoning when assessed in an objective structured clinical examination (OSCE). Methods All available interns volunteered and were randomized 2:1 to intervention (VP education) vs. control (standard clinical teaching) groups. This quasi-experimental study was conducted at one academic medical center from January to May 2021. Both groups completed pre-posttest VP case assessments (scored as correct diagnosis across six VP cases) and participated in an OSCE done 6 weeks later. The OSCEs were recorded and assessed using a rubric that was systematically developed and validated. Results Out of 21 available interns, 20 participated. Between intervention (n=13) and control (n=7), mean pretest VP diagnostic accuracy scores did not differ; the posttest VP scores improved for the intervention group (3.5 [SD 1.3] vs. 1.6 [SD 0.8], p=0.007). On the OSCE, the means scores were higher in the intervention (n=11) compared to control group (n=4) for physical exam (8.4 [SD 4.6] vs. 3.9 [SD 4.0], p=0.003) and total rubric score (43.4 [SD 12.2] vs. 32.6 [SD 11.3], p=0.04). Conclusions The VP-based dizziness curriculum resulted in improved diagnostic accuracy among IM interns with enhanced physical exam skills retained at 6 weeks post-intervention.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":"28 5","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138632927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Prevalence of atypical presentations among outpatients and associations with diagnostic error.","authors":"Yukinori Harada, Yumi Otaka, Shinichi Katsukura, Taro Shimizu","doi":"10.1515/dx-2023-0060","DOIUrl":"10.1515/dx-2023-0060","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to assess the prevalence of atypical presentations and their association with diagnostic errors in various diseases.</p><p><strong>Methods: </strong>This retrospective observational study was conducted using cohort data between January 1 and December 31, 2019. Consecutive outpatients consulted by physicians from the Department of Diagnostic and Generalist Medicine at a university hospital in Japan were included. Patients for whom the final diagnosis was not confirmed were excluded. Primary outcomes were the prevalence of atypical presentations, and the prevalence of diagnostic errors in groups with typical and atypical presentations. Diagnostic errors and atypical presentations were assessed using the Revised Safer Dx Instrument. We performed primary analyses using a criterion; the average score of less than five to item 12 of two independent reviewers was an atypical presentation (liberal criterion). We also performed additional analyses using another criterion; the average score of three or less to item 12 was an atypical presentation (conservative criterion).</p><p><strong>Results: </strong>A total of 930 patients were included out of a total of 2022 eligible. The prevalence of atypical presentation was 21.7 and 6.7 % when using liberal and conservative criteria for atypical presentation, respectively. Diagnostic errors (2.8 %) were most commonly observed in the cases with slight to moderate atypical presentation. Atypical presentation was associated with diagnostic errors with the liberal criterion for atypical presentation; however, this diminished with the conservative criterion.</p><p><strong>Conclusions: </strong>An atypical presentation was observed in up to 20 % of outpatients with a confirmed diagnosis, and slight to moderate atypical presentation may be the highest risk population for diagnostic errors.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"40-48"},"PeriodicalIF":3.5,"publicationDate":"2023-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138498025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}