Correct Clinical Diagnoses Research Articles

Visual Blood, Visualisation of Blood Gas Analysis in Virtual Reality, Leads to More Correct Diagnoses: A Computer-Based, Multicentre, Simulation Study.

Interpreting blood gas analysis results can be challenging for the clinician, especially in stressful situations under time pressure. To foster fast and correct interpretation of blood gas results, we developed Visual Blood. This computer-based, multicentre, noninferiority study compared Visual Blood and conventional arterial blood gas (ABG) printouts. We presented six scenarios to anaesthesiologists, once with Visual Blood and once with the conventional ABG printout. The primary outcome was ABG parameter perception. The secondary outcomes included correct clinical diagnoses, perceived diagnostic confidence, and perceived workload. To analyse the results, we used mixed models and matched odds ratios. Analysing 300 within-subject cases, we showed noninferiority of Visual Blood compared to ABG printouts concerning the rate of correctly perceived ABG parameters (rate ratio, 0.96; 95% CI, 0.92-1.00; p = 0.06). Additionally, the study revealed two times higher odds of making the correct clinical diagnosis using Visual Blood (OR, 2.16; 95% CI, 1.42-3.29; p < 0.001) than using ABG printouts. There was no or, respectively, weak evidence for a difference in diagnostic confidence (OR, 0.84; 95% CI, 0.58-1.21; p = 0.34) and perceived workload (Coefficient, 2.44; 95% CI, -0.09-4.98; p = 0.06). This study showed that participants did not perceive the ABG parameters better, but using Visual Blood resulted in more correct clinical diagnoses than using conventional ABG printouts. This suggests that Visual Blood allows for a higher level of situation awareness beyond individual parameters' perception. However, the study also highlighted the limitations of today's virtual reality headsets and Visual Blood.

An Alternative to Traditional Bedside Teaching During COVID-19: High-Fidelity Simulation-Based Study.

BackgroundBedside teaching is integral to medical education and has been highlighted to improve clinical and communication skills, as well as clinical reasoning. Despite the significant advantages of bedside teaching, its usage within medical education has been declining, and COVID-19 has added additional challenges. The pandemic has resulted in a significant reduction in opportunities to deliver bedside teaching due to risk of viral exposure, patients declining student interactions, and ward closures. Educators have therefore been required to be innovative in their teaching methods, leading to the use of online learning, social media platforms, and simulation. Simulation-based education allows for learning in a low-risk environment and affords the opportunity for deliberated repeated practice with case standardization. The results demonstrate that simulation-based training can increase students’ confidence, increase the rates of correct clinical diagnoses, and improve retention of skills and knowledge when compared with traditional teaching methods.ObjectiveTo mitigate the impact of COVID-19 upon bedside teaching for third year students at Hull York Medical School amid closure of the cardiorespiratory wards, a high-fidelity simulation-based model of traditional bedside teaching was designed and implemented. The objectives of the teaching session were to enable students to perform history taking and a focused cardiorespiratory clinical examination in a COVID-19–safe environment using SimMan 3G.MethodsFour clinical teaching fellows with experience of simulation-based medical education scripted histories for 2 common cardiorespiratory cases, which were asthma and aortic stenosis. The simulation sessions were designed for students to take a focused cardiorespiratory history and clinical examination using SimMan 3G. All cases involved dynamic vital signs, and the simulator allowed for auscultation of an ejection systolic murmur and wheezing in accordance with the cases chosen. Key aspects of the pathologies, including epidemiology, differential diagnoses, investigations, and management, were summarized using an interactive PowerPoint presentation, followed by a debriefing session.ResultsIn total, 12 third year medical students undertook the sessions, and overall feedback was highly positive. Of the 10 students who completed the feedback questionnaires, 90% (n=9) felt more confident in their clinical examination skills following the teaching; 100% (n=10) of the students responded that they would recommend the session to a colleague; and implementation of regular simulation was frequently requested on feedback. These results are in keeping with the current literature.ConclusionsBedside teaching continues to face ongoing challenges from the COVID-19 pandemic as well as declining patient recruitment and fluctuations in clinical findings. The support for simulation-based medical education is derived from high-quality studies; however, studies describing the use of this technology for bedside teaching in the undergraduate curriculum are limited. The authors describe a highly effective teaching session amid the pandemic, which allowed for maintenance of staff and student safety alongside continued education during a challenging time for educators globally.

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome

Mutations in the Forkhead Box C1 (FOXC1) are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, variable dental defects, craniofacial dysmorphism and hearing loss. Due to late-onset of ocular disorders and lack of typical presentation, clinical diagnosis presents a huge challenge. In this study, we described a pathogenic in-frame variant in FOXC1 in one 5-year-old boy who is presented with hypertelorism, pupil deformation in both eyes, conductive hearing loss, and dental defects. By whole exome sequencing, we identified a 3 bp deletion in FOXC1, c.516_518delGCG (p.Arg173del) as the disease-causing variant, which was de novo and not detected in the parents, and could be classified as a “pathogenic variant” according to the American College of Medical Genetics and Genomics guidelines. After confirmation of this FOXC1 variant, clinical data on Axenfeld-Rieger syndrome-associated clinical features were collected and analyzed. Furthermore, Although the affected individual present hearing loss, however, the hearing loss is conductive and is reversible during the follow-up, which might not linke to the FOXC1 variant and is coincidental. Routine examination of FOXC1 is necessary for the genetic diagnosis of hypertelorism-associated syndrome. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.

Axenfeld‐Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes have never been systematically assessed. Here, 11 facial traits commonly reported in Axenfeld‐Rieger syndrome were assessed by five clinical geneticists blinded to the molecular diagnosis. Individuals were drawn from the Australian and New Zealand Registry of Advanced Glaucoma in Australia or recruited through the Genetic and Ophthalmology Unit of l'Azienda Socio‐Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda in Italy. Thirty‐four individuals from 18 families were included. FOXC1 variants were present in 64.7% of individuals and PITX2 variants in 35.3% of individuals. A thin upper lip (55.9%) and a prominent forehead (41.2%) were common facial features shared between both genes. Hypertelorism/telecanthus (81.8% vs 25.0%, p = 0.002) and low‐set ears (31.8% vs 0.0%, p = 0.036) were significantly more prevalent in individuals with FOXC1 variants compared with PITX2 variants. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.

337 - Pseudodementia, pseudopseudodementia and pseudodepression

While most older people who develop problems with their memory and thinking that are severe enough to impair their ability to function in everyday life typically, are found to have Alzheimer’s disease or other neurodegenerative diseases, some have an undiagnosed and treatable psychiatric disorder masquerading as dementia. These conditions including depression can affect memory and thinking and, when severe, create a clinical picture similar to dementia. This phenomenon, known as “pseudodementia”, is encountered in clinical practice. It is important to identify because it may be reversible with appropriate treatment.There is controversy about what the longer-term prognosis is for people diagnosed with pseudodementia. This has implications for how to manage patients, what advice to give to patients and their family, and how to conceptualise the disorder. Some studies found that people with pseudodementia eventually develop organic dementia, so called pseudo-pseudodementia. To address this, we conducted a systematic review of studies that had been conducted on pseudodementia and which followed up patients over time.Eighteen studies followed patients from several weeks to 18 years. Overall, patients with pseudodementia were at greater risk of later developing organic dementia. Importantly, not all patients did; many patients remained stable or improved, albeit some still impaired by their psychiatric disorder. Our review showed possible treatment benefits and differences with age; patients diagnosed with pseudodementia at a younger age had better outcomes.Finally, people with apathy (which is the commonest behavioural symptom in dementia) can be misdiagnosed as having depression, so called pseudo-depression and then often treated for the wrong condition. Patients with apathy do not respond to antidepressants.Receiving the correct clinical diagnoses are crucial to patients receiving the correct treatment for their condition. A missed diagnosis of a potentially reversible depressive pseudodementia can have tragic consequence for the patient and family.Recent research has neglected the study of pseudodementia. Our findings reveal a clear need for better diagnostic skills, further research with modern investigative tools, such as neuroimaging and genetic sequencing, and clinical trials to better understand underlying mechanisms and determine effective treatment strategies.

Relationship between symptoms and imagenological signs of degenerative temporomandibular joint disorders using the Research Diagnostic Criteria for Temporomandibular Disorders and cone-beam computed tomography

ABSTRACT BAKGROUND AND OBJECTIVES: Arthralgia is a common complaint among patients with temporomandibular osteodegeneration, however, for the accurate diagnosis of osteodegeneration, it is suggested the adoption of imaging tests associated with standardized clinical diagnosis protocols. The objective of this study was to evaluate patients with degenerative changes in the temporomandibular joint previously visualized by cone beam computed tomography, relating these changes with the clinical diagnoses and symptoms of temporomandibular disorders, in order to conclude which of the degenerative changes develop more painful symptomatology. METHODS: A cross-sectional observational descriptive study. Thirty-eight patients who had previously done the cone beam computed tomography exam were evaluated. Subjects were grouped according to clinical diagnosis of temporomandibular joint changes using the Research Diagnostic Criteria for Temporomandibular Disorders questionnaire. The presence of pain was considered during lateral palpation; intra-articular palpation; excursive movements; and active mouth opening. RESULTS: Among the purely clinical diagnoses, only 10.5% were conclusive, classifying patients as suffering from osteoarthritis/osteoarthrosis. Painful joint symptoms were found in all groups, with no statistically significant difference. Similarly, the presence of degenerative disorders, including flattening, osteophytes, sclerosis, and erosion were found in similar proportions in all diagnosis groups. CONCLUSION: 89.5% of the degenerative changes were clinically underdiagnosed. There was a positive association between the presence of symptoms and the number of correct clinical diagnoses of osteoarthritis/osteoarthrosis obtained with the Research Diagnostic Criteria for Temporomandibular Disorders.

Differentiation of High-Grade Glioma and Intracranial Metastasis Using Volumetric Diffusion Tensor Imaging Tractography

A reliable, noninvasive method to differentiate high-grade glioma (HGG) and intracranial metastasis (IM) has remained elusive. The aim of this study was to differentiate between HGG and IM using tumoral and peritumoral diffusion tensor imaging characteristics. A semiautomated script generated volumetric regions of interest (ROIs) for the tumor and a peritumoral shell at a predetermined voxel thickness. ROI differences in diffusion tensor imaging-related metrics between HGG and IM groups were estimated, including fractional anisotropy, mean diffusivity, total fiber tract counts, and tract density. The HGG group (n= 46) had a significantly higher tumor-to-brain volume ratio than the IM group (n=35) (P < 0.001). The HGG group exhibited significantly higher mean fractional anisotropy and significantly lower mean diffusivity within peritumoral ROI than the IM group (P < 0.05). The HGG group exhibited significantly higher total tract count and higher tract density in tumoral and peritumoral ROIs than the IM group (P < 0.05). Tumoral tract count and peritumoral tract density were the most optimal metrics to differentiate the groups based on receiver operating characteristic curve analysis. Predictive analysis using receiver operating characteristic curve thresholds was performed on 13 additional participants. Compared with correct clinical diagnoses, the 2 thresholds exhibited equal specificities (66.7%), but the tumoral tract count (85.7%) seemed more sensitive in differentiating the 2 groups. Tract count and tract density were significantly different in tumoral and peritumoral regions between HGG and IM. Differences in microenvironmental interactions between the tumor types may cause these tract differences.

Autopsy: quality assurance in the ICU.

To examine the correlation between the clinical diagnosis and autopsy findings in adult patients who died in an intensive care unit (ICU). To determine the rate of agreement of the basic and terminal causes of death and the types of errors in order to improve quality control of future care. Retrospective study. Adult ICU in a university hospital. 30 adult patients who died in the ICU, with the exclusion of medicolegal cases. Anatomo-clinical meetings were held to analyze the pre- and postmortem correlations in 30 consecutive autopsies at the ICU of the University Hospital, School of Medicine of Botucatu/ UNESP, from January 1994 to January 1997. The rate of correct clinical diagnoses of the basic cause was 66.7%; in 23.3% of cases, if the correct diagnosis was made, management would have been different, as would have been the evolution of the patient's course (Class I error); in 10% of the cases the error would not have led to a change in management (Class II error). The rate of correct clinical diagnoses of terminal cause was 80%. The rate of recognition of the basic cause was 66.7%, which is consistent with the literature, but the Class I error rate was higher than that reported in the literature.

Las sesiones anatomoclínicas en México en los albores del siglo XXI

The authors present a defense of postmortem clinical anatomy sessions, which contributed enormously to the development of clinical medicine but which today draw little interest in medical studies. Nevertheless, the sessions still provide an unrivalled exercise in diagnosis for medical students and an excellent method of continuing education for practicing professionals. Autopsies make it possible to confirm or correct clinical diagnoses, including those obtained through highly complex technological procedures; they contribute to the discovery of new diseases and other abnormalities; they promote research; they provide reliable statistics on morbidity and mortality; they produce useful genetic information; they facilitate interdisciplinary discussion and knowledge exchange; and they can serve as an indicator of the quality of medical care. The authors recommend reviving the high academic standards of postmortem clinical anatomy sessions and urge professionals in health institutions to contribute as much as possible to the continuation and improvement of these sessions.

Dermatoscopy and high frequency sonography: two useful non-invasive methods to increase preoperative diagnostic accuracy in pigmented skin lesions.

Dermatoscopy and high frequency sonography have recently been combined to increase diagnostic preoperative accuracy in the treatment of pigmented skin lesions. In this monocentric study 80 patients with pigmented skin lesions were evaluated clinically, by dermatoscopy, and 20 MHz-sonography followed by dermatohistopathological evaluation; 39 malignant melanomas, 37 common nevi, 3 dysplastic nevi, and 1 nevus Spitz were diagnosed histologically. In 72 of the 80 cases (91.3%) dermatoscopical diagnoses were confirmed by histopathology, compared to only 79% correct clinical diagnoses. For the mere clinical diagnosis of melanoma sensitivity was 79%, specificity was 78% and diagnostic accuracy was 65%. All diagnostic values increased by dermatoscopy: sensitivity reached 90%, specificity was 93%, and diagnostic accuracy was 83%. In order to determine tumor thickness preoperatively tumor thickness was measured by 20 MHz sonography. The correlation of tumor thickness between histometric and sonographic results was determined for nevi (r = 0.93) and melanoma (r = 0.95); 74.3% of melanomas were diagnosed correctly within an 0.2 mm range. Regarding the clinical important limit of 1 mm tumor thickness, 87.2% were diagnosed in accordance with histometric evaluation. An increase of 18% in diagnostic accuracy by dermatoscopy and 87.2% of correctly diagnosed cases of tumor thickness of malignant melanoma by high frequency sonography clearly demonstrate that these methods should be considered standard procedures in the diagnosis of pigmented skin lesions and will facilitate the decision on necessary surgical treatment.

The invisible colours of melanoma. A telespectrophotometric diagnostic approach on pigmented skin lesions

Reflectance images of 43 pigmented lesions of the skin (18 melanomas, 17 common melanocytic naevi and eight dysplastic naevi) were acquired by a telespectrophotometric system and were analysed in the spectral range from 420 to 1040 nm, to discriminate melanoma from benign melanocytic entities. Different evaluations were carried out considering the whole spectrum, the visible and the near infrared. A total of 33 (76.7%) lesions were correctly diagnosed by the telespectrophotometric system, compared with 35 (81.4%) correct clinical diagnoses. Reflectance in the infra-red band appears diagnostically relevant. A larger study is needed to prove the validity of this diagnostic method.

Diagnosis of malignant tumor: Comparison between clinical and autopsy diagnoses

A review was made of the results of 1,036 consecutive autopsies (average patient age, 75 years; 617 male and 419 female patients; autopsy rate, 40.2%) done at the Hospital of Monfalcone from January 1986 through December 1991. In 457 autopsies (44%) one or more malignant neoplasms were found (single tumor in 382, dual tumor in 69, and triple tumor in six) for a total of 538 tumors. In the corresponding death certificates the clinical diagnosis of malignancy was found in 302 autopsies for a total of 310 tumors (single in 294 and dual in eight). The number of clinically unrecognized malignancies was 228 (42%) and the number of patients with undiagnosed tumors was 155 (34%). The neoplasms were subdivided into four stages according to their extension at autopsy: stage 0 (85 tumors), microscopic neoplasm; stage I (146 tumors), neoplasm localized at the site of origin; stage II (43 tumors), local advanced neoplasm; and stage III (264 tumors), neoplasm with metastases. The rate of correct clinical diagnoses increased according to the level of stage: (stage 0, 1%; stage I, 40%; stage II, 58%; and stage III, 66%). The greatest numbers of tumors found at autopsy were located in the gastroenteric apparatus (170), the respiratory apparatus (149), and the urogenital apparatus (130). The number of clinically undiag nosed neoplasms was high with respect to the urogenital apparatus (77% overall and 51% excluding stage 0) and the gastroenteric apparatus (41% and 38% excluding stage 0); in contrast, the number was low for the respiratory apparatus (17%). The rate of correct diagnoses was higher in patients younger than 65 years (65%) than in those older than 65 (54%), but the difference was not significant. The duration of hospitalization in the 12 months before death was statistically higher ( P < .001) in patients with a correct diagnosis (36 days) than in undiagnosed patients (14 days). Even taking into account the biases that affect selection of patients for autopsy, the notable discrepancy found between clinical and autopsy diagnoses underlines the fact that autopsy, despite improvements in diagnostic techniques, maintains its fundamental importance in assessing the reliability of clinical diagnoses and furthermore shows the underestimation of the incidence of tumors in epidemiological studies based solely on death certificates.

Correct clinical diagnosis concerning cerebrovascular diseases and myocardial infarction among pathological autopsy cases in Japan

Autopsy cases reported in "Annual of the Pathological Autopsy Cases (Vol. 29, 1986-Vol. 33, 1990)" were analyzed to elucidate the percentage incidences of correct clinical diagnosis concerning cerebrovascular diseases and myocardial infarction. In 19,402 cases (aged 30 years and over), cerebral infarction, cerebral hemorrhage, subarachnoid hemorrhage and myocardial infarction were reported as major pathologic changes. The percentage of the correct clinical diagnosis was 88.4% of 2,858 cases with subarachnoid hemorrhage, 84.7% of 3,051 cases with cerebral hemorrhage and 80.3% of 3,602 cases with cerebral infarction. The clinical diagnosis was correct in 66.6% of 9,891 cases with myocardial infarction. The difference between incidence of cerebrovascular disease and myocardial infarction was statistically significant (p < .001). In women with subarachnoid hemorrhage, correct clinical diagnosis was made in 90.6% and the more than 85.5% in men (p < .0001). Among the older patients (aged 60 years and over) with cerebral infarction, 81.5% were diagnosed correctly while that in the middle-aged (aged 30-59 years) was 70.7% (p < .0001). The autopsy cases from general hospitals showed a somewhat higher percentage concerning cerebral infarction and cerebral hemorrhage than those from university hospitals (p < .05). From 1986 to 1990, the ratio of accurate clinical diagnosis concerning cerebrovascular diseases was maintained as high as in 1986. The ratio for myocardial infarction decreased from 70.7% in 1986 to 63.1% in 1990. It was concluded that much efforts are needed to establish correct clinical diagnoses of myocardial infarction in Japan.

The Comprehensive Psychopathological Rating Scale in patients with dementia of Alzheimer type and multiinfarct dementia.

Eighteen patients with the clinical diagnosis dementia of Alzheimer type (AD/SDAT) and 20 patients with the clinical diagnosis multiinfarct dementia (MID) were interviewed using a subscale to the Comprehensive Psychopathological Rating Scale (CPRS), consisting of items measuring psychopathological symptoms and signs commonly seen in patients with dementia. The aim of the investigation was to evaluate whether a difference in psychopathology between AD/SDAT and MID could be observed during a semistructured psychiatric interview using the CPRS. In both groups the duration of illness was similar and the dementia mild to moderate. All patients were subjected to somatic, psychiatric, laboratory, neurophysiologic and neuroradiologic examinations in order to obtain the correct clinical diagnoses. The results show that patients with AD/SDAT have a more variable psychopathology than patients with MID. Patients with MID were rated lower on all items used, especially those concerning verbal and personal contact. This might explain the generally accepted opinion that patients with MID have better contact with their surroundings and better preservation of their personality, even though they have the same degree of dementia as patients with AD/SDAT.

Inter-observer variation of symptoms and signs in jaundice.

Five observers each examined 20 jaundiced patients, recording clinical signs and symptoms on a form which also gave the definitions used for the study. The balanced design of the study allowed examination for order effects, but none were found, except for a tendency for agreement on indicants with more than two categories to improve as the study progressed. Chance agreement was corrected by the use of kappa statistics which showed that 80% of the indicants showed agreement significantly greater than expected by chance. Certain indicants (dark urine, variability of jaundice, abdominal pain, character of liver edge and presence of spleen) showed no evidence of significant agreement, even though the indicants were frequently observed in both states - present or absent. The percentage of correct clinical diagnoses reached by the observers (without biochemical or any other information) varied between 65% and 84%. The consensus diagnosis was correct in 80% of cases. Agreement was higher if the diagnosis was simplified to a 'Medical' or 'Surgical' diagnosis, the observers' accuracy being between 90 and 100%.