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The Korean Journal of Internal Medicine Jan 2022Chronic pancreatitis (CP) is pathologically characterized by the loss of exocrine pancreatic parenchyma, irregular fibrosis, cellular infiltration, and ductal... (Review)
Review
Chronic pancreatitis (CP) is pathologically characterized by the loss of exocrine pancreatic parenchyma, irregular fibrosis, cellular infiltration, and ductal abnormalities. Diagnosing CP objectively is difficult because standard diagnostic criteria are insufficient. The change of parenchymal hardness is the key factor for the diagnosis and understanding of the severity of CP. The ultrasonography (US) or endoscopic ultrasonography (EUS) elastography have been used to diagnose pancreatic diseases. Both strain elastography (SE) and shear wave elastography are specific diagnostic techniques for measuring tissue hardness. Most previous studies were conducted with SE. There are three methods of interpreting SE; the method of recognizing the patterns in SE distribution images in the region of interest, the method of using strain ratio to compare the hardness of adipose tissue or connective tissue with that of the lesion, and the method of evaluating the hardness distribution of a target by histogram analysis. These former two methods have been used primarily for neoplastic diseases, and histograms analysis has been used to assess hardness distribution in the evaluation of CP. Since the hardness of the pancreas increases with aging, it is necessary to consider the age in the diagnosis of pancreatic disorders using US or EUS elastography.
Topics: Elasticity Imaging Techniques; Endosonography; Fibrosis; Humans; Pancreas; Pancreatitis, Chronic
PubMed: 34902894
DOI: 10.3904/kjim.2021.252 -
The Journal of Clinical Psychiatry Mar 2023Recent advances in technology can lead to earlier detection of Alzheimer disease (AD) in patients and therefore opportunities for early diagnosis and treatment. In...
Recent advances in technology can lead to earlier detection of Alzheimer disease (AD) in patients and therefore opportunities for early diagnosis and treatment. In addition, novel agents can slow disease progression and improve symptoms. However, clinicians are not providing a diagnosis to over half of individuals who meet criteria for dementia. Early detection and intervention are crucial to slow symptom progression, and these advances provide a window of opportunity to diagnose the disease early and even prevent it from becoming symptomatic. Clinicians need education on early recognition of AD and on sharing the diagnosis of AD with patients and families as well as guidance for providing patients and families with information on next steps and facilitating early treatment initiation for AD. Partnering with clinicians in the primary care setting and providing them with the necessary tools can change the trajectory of the disease for patients and caregivers.
Topics: Humans; Alzheimer Disease; Caregivers; Early Diagnosis
PubMed: 36946604
DOI: 10.4088/JCP.LI21019AH3C -
Cortex; a Journal Devoted To the Study... Dec 2023Research into the newly-coined 'condition' of 'aphantasia', an individual difference involving the self-reported absence of voluntary visual imagery, has taken off in... (Review)
Review
Research into the newly-coined 'condition' of 'aphantasia', an individual difference involving the self-reported absence of voluntary visual imagery, has taken off in recent years, and more and more people are 'self-diagnosing' as aphantasic. Yet, there is no consensus on whether aphantasia should really be described as a 'condition', and there is no battery of psychometric instruments to detect or 'diagnose' aphantasia. Instead, researchers currently rely on the Vividness of Visual Imagery Questionnaire (VVIQ) to 'diagnose' aphantasia. We review here fundamental and methodological problems affecting aphantasia research stemming from an inadequate focus on how we should define aphantasia, whether aphantasia is a pathological condition, and the extensive use of VVIQ as a 'diagnostic test' for aphantasia. Firstly, we draw attention to 'literature blindness' for visual imagery research from the 1960s-1990s concerning individual differences in visual imagery vividness. Secondly, despite aphantasia being defined as a 'condition' where voluntary visual imagery is absent as indicated by the lowest score on the VVIQ, aphantasia studies inconsistently employ samples comprised of a mixture of participants with no visual imagery and low visual imagery, and we argue that this hinders the uncovering of the underlying cause of aphantasia. Thirdly, the scores used to designate the boundary between aphantasia and non-aphantasia are arbitrary and differ between studies, compromising the possibility for cross-study comparison of results. Fourthly, the problems of 'diagnosing' aphantasia are not limited to the academic sphere, as one can 'self-diagnose' online, for example by using the variant-VVIQ on the Aphantasia Network website. However, the variant-VVIQ departs from the original in ways likely to impact validity and accuracy, which could lead people to falsely believe they have been 'diagnosed' with aphantasia by a scientifically-validated measure. Fifthly, we discuss the hypothesis that people who believe they have been 'diagnosed' with aphantasia might be vulnerable to health anxiety, distress, and stigma. We conclude with a discussion about some fundamental aspects of how to classify a disorder, and suggest the need for a new psychometric measure of aphantasia.
Topics: Humans; Imagination; Individuality; Imagery, Psychotherapy; Surveys and Questionnaires; Self Report; Visual Perception
PubMed: 37948876
DOI: 10.1016/j.cortex.2023.09.004 -
Acta Cytologica 2022Small round cell sarcomas (SRCSs) account for most solid malignancies in the pediatric age group and are a part of group of malignant tumors characterized by... (Review)
Review
BACKGROUND
Small round cell sarcomas (SRCSs) account for most solid malignancies in the pediatric age group and are a part of group of malignant tumors characterized by heterogenous clinical presentation and overlapping microscopic features of small, round, primitive cells. In addition to the recently established certain genetically defined subset of undifferentiated round cell sarcomas of soft tissue and bone, this group of sarcomas include desmoplastic small round cell tumor, poorly differentiated synovial sarcoma, alveolar rhabdomyosarcoma, mesenchymal chondrosarcoma, and small cell osteosarcoma. Although, those entities share clinical and cytomorphologic features and cannot be unequivocally classified based on clinical presentation and morphology alone. Most of SRCSs characterizes of particular patterns of protein expression or genetic changes and ancillary tests remain necessary to confirm or rule out a specific diagnosis. Subtle but occasionally distinctive cytologic features narrows the number of differential diagnoses and helps to select appropriate ancillary tests necessary for the final diagnosis. Thus, when adequate fine needle aspiration (FNA) biopsy specimen is combined with ancillary tests, a specific histologic diagnosis can be made in almost all cases. However, due to complex cytologic features of SRCS as well as various quality and diversity of FNA smears, there are cases in that cytologic features which do not entirely match the known diagnostic criteria.
SUMMARY
The aim of this review was to summarize cytomorphologic criteria and to present rare and divergent cytological features of SRCSs. Careful assessment of clinical presentation, cytological features, immunohistochemical patterns, and molecular alternations is necessary for an accurate diagnosis. Knowing of rare and divergent microscopic findings that does not fit with the known cytological criteria will help to avoid misdiagnosis.
KEY MESSAGES
The role of FNA biopsies diagnosing soft tissue and bone tumors has been increasing because of the ability of ancillary tests to assist in the diagnosis of specific tumors. SRCSs may be diagnosed accurately in cytology specimens. Access to clinical and radiographic presentation, utility of ancillary tests, understanding complexity of cytological features, and awareness of the rare cytologic findings that differ from that of the established diagnostic criteria are essential to make correct diagnosis.
Topics: Biopsy, Fine-Needle; Bone Neoplasms; Child; Diagnosis, Differential; Humans; Sarcoma; Soft Tissue Neoplasms
PubMed: 35417916
DOI: 10.1159/000524260 -
Gastric Cancer : Official Journal of... Mar 2024Patients with gastric atrophy and intestinal metaplasia (IM) were at risk for gastric cancer, necessitating an accurate risk assessment. We aimed to establish and... (Randomized Controlled Trial)
Randomized Controlled Trial
OBJECTIVE
Patients with gastric atrophy and intestinal metaplasia (IM) were at risk for gastric cancer, necessitating an accurate risk assessment. We aimed to establish and validate a diagnostic approach for gastric biopsy specimens using deep learning and OLGA/OLGIM for individual gastric cancer risk classification.
METHODS
In this study, we prospectively enrolled 545 patients suspected of atrophic gastritis during endoscopy from 13 tertiary hospitals between December 22, 2017, to September 25, 2020, with a total of 2725 whole-slide images (WSIs). Patients were randomly divided into a training set (n = 349), an internal validation set (n = 87), and an external validation set (n = 109). Sixty patients from the external validation set were randomly selected and divided into two groups for an observer study, one with the assistance of algorithm results and the other without. We proposed a semi-supervised deep learning algorithm to diagnose and grade IM and atrophy, and we compared it with the assessments of 10 pathologists. The model's performance was evaluated based on the area under the curve (AUC), sensitivity, specificity, and weighted kappa value.
RESULTS
The algorithm, named GasMIL, was established and demonstrated encouraging performance in diagnosing IM (AUC 0.884, 95% CI 0.862-0.902) and atrophy (AUC 0.877, 95% CI 0.855-0.897) in the external test set. In the observer study, GasMIL achieved an 80% sensitivity, 85% specificity, a weighted kappa value of 0.61, and an AUC of 0.953, surpassing the performance of all ten pathologists in diagnosing atrophy. Among the 10 pathologists, GasMIL's AUC ranked second in OLGA (0.729, 95% CI 0.625-0.833) and fifth in OLGIM (0.792, 95% CI 0.688-0.896). With the assistance of GasMIL, pathologists demonstrated improved AUC (p = 0.013), sensitivity (p = 0.014), and weighted kappa (p = 0.016) in diagnosing IM, and improved specificity (p = 0.007) in diagnosing atrophy compared to pathologists working alone.
CONCLUSION
GasMIL shows the best overall performance in diagnosing IM and atrophy when compared to pathologists, significantly enhancing their diagnostic capabilities.
Topics: Humans; Gastritis, Atrophic; Stomach Neoplasms; Deep Learning; Gastroscopy; Biopsy; Risk Factors; Atrophy; Metaplasia
PubMed: 38095766
DOI: 10.1007/s10120-023-01451-9 -
Journal of Nuclear Medicine Technology Jun 2023Cardiac amyloidosis was thought to be rare, undiagnosable, and incurable. However, recently it has been discovered to be common, diagnosable, and treatable. This...
Cardiac amyloidosis was thought to be rare, undiagnosable, and incurable. However, recently it has been discovered to be common, diagnosable, and treatable. This knowledge has led to a resurgence in nuclear imaging with Tc-pyrophosphate-a scan once believed to be extinct-to identify cardiac amyloidosis, particularly in patients with heart failure but preserved ejection fraction. The renewed interest in Tc-pyrophosphate imaging has compelled technologists and physicians to reacquaint themselves with the procedure. Although Tc-pyrophosphate imaging is relatively simple, interpretation and diagnostic accuracy require an in-depth knowledge of amyloidosis etiology, clinical manifestations, disease progression, and treatment. Diagnosing cardiac amyloidosis is complicated because typical signs and symptoms are nonspecific and usually attributed to other cardiac disorders. In addition, physicians must be able to differentiate between monoclonal immunoglobulin light-chain amyloidosis (AL) and transthyretin amyloidosis (ATTR). Several clinical and noninvasive diagnostic imaging (echocardiography and cardiac MRI) red flags have been identified that suggest a patient may have cardiac amyloidosis. The intent of these red flags is to raise physician suspicion of cardiac amyloidosis and guide a series of steps (a diagnostic algorithm) for narrowing down and diagnosing the specific amyloid type. One element in the diagnostic algorithm is to identify monoclonal proteins indicative of AL. Monoclonal proteins are detected by serum or urine immunofixation electrophoresis and serum free light-chain assay. Another element is identifying and grading cardiac amyloid deposition using Tc-pyrophosphate imaging. When monoclonal proteins are present and the Tc-pyrophosphate scan is positive, the patient should be further evaluated for cardiac AL. The absence of monoclonal proteins and a positive Tc-pyrophosphate scan is diagnostic for cardiac ATTR. Patients with cardiac ATTR need to undergo genetic testing to differentiate between wild-type ATTR and variant ATTR. This article is the third in a 3-part series in this issue of the Part 1 reviewed amyloidosis etiology and outlined Tc-pyrophosphate study acquisition. Part 2 described Tc-pyrophosphate image quantification and protocol technical considerations. This article discusses scan interpretation along with cardiac amyloidosis diagnosis and treatment.
Topics: Humans; Diphosphates; Cardiomyopathies; Radiopharmaceuticals; Amyloid Neuropathies, Familial; Radionuclide Imaging
PubMed: 37268322
DOI: 10.2967/jnmt.123.265492 -
Chronic Respiratory Disease 2021Asthma is a common, chronic, and heterogeneous disease with a global impact and substantial economic costs. It is also associated with significant mortality and... (Review)
Review
Asthma is a common, chronic, and heterogeneous disease with a global impact and substantial economic costs. It is also associated with significant mortality and morbidity and the burden of undiagnosed asthma is significant. Asthma can be difficult to diagnose as there is no gold standard test and, while spirometry is central in diagnosing asthma, it may not be sufficient to confirm or exclude the diagnosis. The most commonly reported spirometric measures (forced expiratory volume in one second (FEV) and forced vital capacity assess function in the larger airways. However, small airway dysfunction is highly prevalent in asthma and some studies suggest small airway involvement is one of the earliest disease manifestations. Moreover, there are new inhaled therapies with ultrafine particles that are specifically designed to target the small airways. Potentially, tests of small airways may more accurately diagnose early or mild asthma and assess the response to treatment than spirometry. Furthermore, some assessment techniques do not rely on forced ventilatory manoeuvres and may, therefore, be easier for certain groups to perform. This review discusses the current evidence of small airways tests in asthma and future research that may be needed to further assess their utility.
Topics: Asthma; Forced Expiratory Volume; Humans; Respiratory Function Tests; Spirometry; Vital Capacity
PubMed: 34693751
DOI: 10.1177/14799731211053332 -
World Journal of Gastroenterology Jan 2020Coeliac disease (CD) is a complex condition resulting from an interplay between genetic and environmental factors. When diagnosing the condition, serological testing and... (Review)
Review
Coeliac disease (CD) is a complex condition resulting from an interplay between genetic and environmental factors. When diagnosing the condition, serological testing and genotyping are useful in excluding CD, although the gold standard of testing is currently histopathological examination of the small intestine. There are drawbacks associated with this form of testing however and because of this, novel forms of testing are currently under investigation. Before we develop completely novel tests though, it is important to ask whether or not we can simply use the data we gather from coeliac patients more effectively and build a more accurate snapshot of CD through statistical analysis of combined metrics. It is clear that not one single test can accurately diagnose CD and it is also clear that CD patients can no longer be defined by discrete classifications, the continuum of patient presentation needs to be recognised and correctly captured to improve diagnostic accuracy. This review will discuss the current diagnostics for CD and then outline novel diagnostics under investigation for the condition. Finally, improvements to current protocols will be discussed with the need for a holistic "snapshot" of CD using a number of metrics simultaneously.
Topics: Biopsy; Celiac Disease; Diagnosis, Differential; Diagnostic Techniques, Digestive System; Humans; Intestine, Small; Serologic Tests
PubMed: 31933510
DOI: 10.3748/wjg.v26.i1.1 -
Zhong Nan Da Xue Xue Bao. Yi Xue Ban =... Nov 2023Amyloidosis is a local or systemic disease caused by the deposition of misfolded proteins outside the cell, with rapid progression, and dire prognosis. Common types of...
Amyloidosis is a local or systemic disease caused by the deposition of misfolded proteins outside the cell, with rapid progression, and dire prognosis. Common types of cardiac amyloidosis are monoclonal immunoglobulin light chain amyloidosis (AL-CA) and transthyretin cardiac amyloidosis (ATTR-CA). Nuclear medicine examinations can be accurate, rapid, and non-invasive to help diagnose diseases and can effectively predict the prognosis of patients with CA. Technetium (Tc)-labeled bisphosphonate imaging has been included in the consensus of experts and has become the first-line imaging method for the diagnosis of ATTR-CA. I-metaiodoenzylguanidine (MIBG) as a norepinephrine analogue can effectively assess cardiac sympathetic innervation in patients with CA. Aβ- amyloid imaging agents such as C-pittsburgh compound B and F-flubetaben are expected to be new techniques for diagnosing AL-CA and incorporating them into cardiac staging systems for AL-CA patients in the future. New imaging agents such as F-NaF has been widely used in the diagnosis, treatment response monitoring, and prognosis assessment of CA. Summarizing the research value of nuclide imaging in CA may provide new ideas for clinical realization of early detection of CA and accurate assessment of disease prognosis.
Topics: Humans; Prognosis; Radionuclide Imaging; Amyloidosis; Consensus; Diphosphonates
PubMed: 38432865
DOI: 10.11817/j.issn.1672-7347.2023.230176 -
Medicina Oral, Patologia Oral Y Cirugia... Jul 2023Knowledge of oral mucosal lesions (OMLs) among dentists is relevant in diagnosing potentially malignant diseases and oral cancer at an early stage. The aim of this...
BACKGROUND
Knowledge of oral mucosal lesions (OMLs) among dentists is relevant in diagnosing potentially malignant diseases and oral cancer at an early stage. The aim of this survey was to explore dentists' knowledge about OMLs.
MATERIAL AND METHODS
Respondents to a web-based questionnaire, containing 11 clinical vignettes representing patients with various OMLs, provided a (differential) diagnosis and management for each. Information about demographics and clinical experience of the participants was acquired as well. Descriptive statistics were performed and T-tests were used to test for significant (p<0.05) differences in mean scores for correct diagnosis and management between subgroups based on demographic variables.
RESULTS
Forty-four of 500 invited dentists completed the questionnaire. For (potentially) malignant OMLs, the number of correct diagnoses ranged from 14 to 93%, whilst the number of correct management decisions ranged from 43 to 86%. For benign OMLs, the number of correct diagnoses and management decisions ranged from 32 to 100% and 9 to 48%, respectively. For 11 clinical vignettes, mean scores for correct diagnosis, correct management and correct diagnosis and management were respectively 7.2 (±1.8), 5.7 (±1.5), and 3.8 (±1.7).
CONCLUSIONS
The results show that dentists in the Netherlands do not have sufficient knowledge to accurately diagnose some OMLs and to select a correct management. This may result in over-referral of benign OMLs and under-referral for (potentially) malignant OMLs. Clinical guidelines, that include standardized criteria for referral, and continuing education, may improve dentists' ability to correctly diagnose and accurately manage OMLs.
Topics: Humans; Netherlands; Mouth Neoplasms; Referral and Consultation; Diagnosis, Differential; Dentists; Surveys and Questionnaires
PubMed: 36641742
DOI: 10.4317/medoral.25774