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Sleep Medicine Oct 2023The diagnosis of narcolepsy is based on clinical information, combined with polysomnography (PSG) and the Multiple Sleep Latency Test (MSLT). PSG and the MSLT are...
BACKGROUND
The diagnosis of narcolepsy is based on clinical information, combined with polysomnography (PSG) and the Multiple Sleep Latency Test (MSLT). PSG and the MSLT are moderately reliable at diagnosing narcolepsy type 1 (NT1) but unreliable for diagnosing narcolepsy type 2 (NT2). This is a problem, especially given the increased risk of a false-positive MSLT in the context of circadian misalignment or sleep deprivation, both of which commonly occur in the general population.
AIM
We aimed to clarify the accuracy of PSG/MSLT testing in diagnosing NT1 versus controls without sleep disorders. Repeatability and reliability of PSG/MSLT testing and temporal changes in clinical findings of patients with NT1 versus patients with hypersomnolence with normal hypocretin-1 were compared.
METHOD
84 patients with NT1 and 100 patients with non-NT1-hypersomnolence disorders, all with congruent cerebrospinal fluid hypocretin-1 (CSF-hcrt-1) levels, were included. Twenty-five of the 84 NT1 patients and all the hypersomnolence disorder patients underwent a follow-up evaluation consisting of clinical assessment, PSG, and a modified MSLT. An additional 68 controls with no sleep disorders were assessed at baseline.
CONCLUSION
Confirming results from previous studies, we found that PSG and our modified MSLT accurately and reliably diagnosed hypocretin-deficient NT1 (accuracy = 0.88, reliability = 0.80). Patients with NT1 had stable clinical and electrophysiological presentations over time that suggested a stable phenotype. In contrast, the PSG/MSLT results of patients with hypersomnolence, and normal CSF-hcrt-1 had poor reliability (0.32) and low repeatability.
Topics: Humans; Polysomnography; Orexins; Sleep Latency; Reproducibility of Results; Narcolepsy; Disorders of Excessive Somnolence
PubMed: 37544279
DOI: 10.1016/j.sleep.2023.07.029 -
Tomography (Ann Arbor, Mich.) Oct 2023Neuroimaging has a key role in identifying small-vessel vasculitis from common diseases it mimics, such as multiple sclerosis. Oftentimes, a multitude of these... (Review)
Review
Neuroimaging Scoring Tools to Differentiate Inflammatory Central Nervous System Small-Vessel Vasculitis: A Need for Artificial Intelligence/Machine Learning?-A Scoping Review.
Neuroimaging has a key role in identifying small-vessel vasculitis from common diseases it mimics, such as multiple sclerosis. Oftentimes, a multitude of these conditions present similarly, and thus diagnosis is difficult. To date, there is no standardized method to differentiate between these diseases. This review identifies and presents existing scoring tools that could serve as a starting point for integrating artificial intelligence/machine learning (AI/ML) into the clinical decision-making process for these rare diseases. A scoping literature review of EMBASE and MEDLINE included 114 articles to evaluate what criteria exist to diagnose small-vessel vasculitis and common mimics. This paper presents the existing criteria of small-vessel vasculitis conditions and mimics them to guide the future integration of AI/ML algorithms to aid in diagnosing these conditions, which present similarly and non-specifically.
Topics: Humans; Artificial Intelligence; Machine Learning; Vasculitis; Neuroimaging; Central Nervous System
PubMed: 37888736
DOI: 10.3390/tomography9050144 -
The American Journal of Case Reports Jun 2024BACKGROUND Lung cancer is the most common malignant neoplasm diagnosed worldwide. Early diagnosis and treatment are of great importance for patient's prognosis. A wide...
BACKGROUND Lung cancer is the most common malignant neoplasm diagnosed worldwide. Early diagnosis and treatment are of great importance for patient's prognosis. A wide variety of pulmonary conditions display clinical and radiological presentation similar to that of lung cancer, and the awareness of their existence can help in making correct diagnoses. CASE REPORT This article presents a description of 4 patients with an insidious type of lesions mimicking pulmonary carcinomas. The first patient was referred to Department with a tumor-like lesion in the right lung. After CT of the chest and core-needle biopsy, the lesion turned out to be an ectopic thyroid tissue. The second patient reported a dry cough and weight loss. A lung nodule mass was revealed in chest CT and the patient was diagnosed with pulmonary tuberculoma. The remaining 2 patients, despite the suspicion of lung cancer, were subsequently diagnosed with a post-traumatic pleural hematoma and diffuse large B cell lymphoma. CONCLUSIONS Low-dose computed tomography of the chest plays a significant role in the diagnosis of newly detected lesions in the lungs. However, due to the similarity of the image of cancer to that of other diseases, the ultimate diagnosis should be based on the interpretation of full imaging diagnostic tests, clinical presentation, and histopathological examination of the material obtained from the lesion. Analysis of cases enables us to expand our understanding of the diseases that need to be considered in differential diagnosis of a patient with a detected tumor-like lesion in the lungs.
Topics: Humans; Diagnosis, Differential; Lung Neoplasms; Male; Middle Aged; Tomography, X-Ray Computed; Female; Aged; Lung Diseases; Adult; Tuberculosis, Pulmonary
PubMed: 38877695
DOI: 10.12659/AJCR.943798 -
European Heart Journal. Cardiovascular... Sep 2023Traditionally, congestive heart failure (HF) was phenotyped by echocardiography or other imaging techniques according to left ventricular (LV) ejection fraction (LVEF)....
Traditionally, congestive heart failure (HF) was phenotyped by echocardiography or other imaging techniques according to left ventricular (LV) ejection fraction (LVEF). The more recent echocardiographic modality speckle tracking strain is complementary to LVEF, as it is more sensitive to diagnose mild systolic dysfunction. Furthermore, when LV systolic dysfunction is associated with a small, hypertrophic ventricle, EF is often normal or supernormal, whereas LV global longitudinal strain can reveal reduced contractility. In addition, segmental strain patterns may be used to identify specific cardiomyopathies, which in some cases can be treated with patient-specific medicine. In HF with preserved EF (HFpEF), a diagnostic hallmark is elevated LV filling pressure, which can be diagnosed with good accuracy by applying a set of echocardiographic parameters. Patients with HFpEF often have normal filling pressure at rest, and a non-invasive or invasive diastolic stress test may be used to identify abnormal elevation of filling pressure during exercise. The novel parameter LV work index, which incorporates afterload, is a promising tool for quantification of LV contractile function and efficiency. Another novel modality is shear wave imaging for diagnosing stiff ventricles, but clinical utility remains to be determined. In conclusion, echocardiographic imaging of cardiac function should include LV strain as a supplementary method to LVEF. Echocardiographic parameters can identify elevated LV filling pressure with good accuracy and may be applied in the diagnostic workup of patients suspected of HFpEF.
Topics: Humans; Heart Failure; Stroke Volume; Echocardiography; Ventricular Function, Left; Ventricular Dysfunction, Left; Hemodynamics
PubMed: 37542477
DOI: 10.1093/ehjci/jead196 -
International Journal of Chronic... 2023Diagnosis of COPD in primary care is hindered by underuse of spirometry. Case finding using validated symptom and health status questionnaires, and simple handheld...
AIM
Diagnosis of COPD in primary care is hindered by underuse of spirometry. Case finding using validated symptom and health status questionnaires, and simple handheld devices in high-risk populations may improve diagnosis. This study aimed to determine the best combination of measures to optimise COPD diagnosis in the primary care setting.
METHODS
We recruited 335 current or ex-smokers, including those with an established diagnosis of COPD from general practices. Participants' FEV and FEV were measured using a handheld spirometry device (COPD-6). Each completed the COPD assessment test (CAT), a modified Medical Research Council (mMRC) dyspnoea scale, St George's Respiratory Questionnaire (SGRQ) and smoking history questionnaire. From these data we calculated the predictive validity for spirometry-confirmed diagnosis of COPD. Area under the receiver operating characteristic curve (AUROC), sensitivity, specificity, positive and negative predictive values (PPV, NPV) were calculated for each. Kappa coefficient was used to measure the agreement between the Fixed-Ratio (FR) and Lower Limit of Normal (LLN) spirometric criteria in diagnosing COPD.
RESULTS
FEV/FEV <0.70 alone showed significant association (p<0.0001) with COPD diagnosis and good predictive accuracy (AUROC=0.725). However, no further improvement was found after combining SGRQ, CAT and mMRC with FEV/FEV. FEV/FEV <0.70 using the COPD-6 handheld device had moderate sensitivity (65.7%) and high PPV (90.1%), high specificity (79.3%) and NPV (44.8%). There was good agreement between FR and LLN definitions (κ=0.70).
CONCLUSION
Handheld micro-spirometers can facilitate case finding of COPD in smokers and ex-smokers attending general practice. The fixed ratio criterion currently recommended by COPD-X guidelines offers the simplest method for diagnosing COPD in Australian primary care.
Topics: Humans; Pulmonary Disease, Chronic Obstructive; Australia; Asthma; Respiratory Function Tests; Spirometry; Forced Expiratory Volume
PubMed: 37492489
DOI: 10.2147/COPD.S371371 -
Cancer Medicine Aug 2023Endoscopic ultrasonography-guided fine-needle aspiration/biopsy (EUS-FNA/B) is considered to be a first-line procedure for the pathological diagnosis of pancreatic...
BACKGROUND AND AIMS
Endoscopic ultrasonography-guided fine-needle aspiration/biopsy (EUS-FNA/B) is considered to be a first-line procedure for the pathological diagnosis of pancreatic cancer owing to its high accuracy and low complication rate. The number of new cases of pancreatic ductal adenocarcinoma (PDAC) is increasing, and its accurate pathological diagnosis poses a challenge for cytopathologists. Our aim was to develop a hyperspectral imaging (HSI)-based convolution neural network (CNN) algorithm to aid in the diagnosis of pancreatic EUS-FNA cytology specimens.
METHODS
HSI images were captured of pancreatic EUS-FNA cytological specimens from benign pancreatic tissues (n = 33) and PDAC (n = 39) prepared using a liquid-based cytology method. A CNN was established to test the diagnostic performance, and Attribution Guided Factorization Visualization (AGF-Visualization) was used to visualize the regions of important classification features identified by the model.
RESULTS
A total of 1913 HSI images were obtained. Our ResNet18-SimSiam model achieved an accuracy of 0.9204, sensitivity of 0.9310 and specificity of 0.9123 (area under the curve of 0.9625) when trained on HSI images for the differentiation of PDAC cytological specimens from benign pancreatic cells. AGF-Visualization confirmed that the diagnoses were based on the features of tumor cell nuclei.
CONCLUSIONS
An HSI-based model was developed to diagnose cytological PDAC specimens obtained using EUS-guided sampling. Under the supervision of experienced cytopathologists, we performed multi-staged consecutive in-depth learning of the model. Its superior diagnostic performance could be of value for cytologists when diagnosing PDAC.
Topics: Humans; Endoscopic Ultrasound-Guided Fine Needle Aspiration; Cytology; Deep Learning; Pancreatic Neoplasms; Carcinoma, Pancreatic Ductal
PubMed: 37455599
DOI: 10.1002/cam4.6335 -
Ulusal Travma Ve Acil Cerrahi Dergisi =... Mar 2024This study presents the diagnosis and treatment of rare small bowel tumors through clinical cases.
BACKGROUND
This study presents the diagnosis and treatment of rare small bowel tumors through clinical cases.
METHODS
Patients treated between 2000 and 2023 were included in the study. The clinical records of the patients were analyzed retrospectively.
RESULTS
A total of 34 patients were included in the study. Of these patients, 26 (75.5%) were male and eight (23.5%) were female. The mean age of the patients was 62.1 years. The most common symptoms and signs were abdominal pain (76.4%), bloating (38.2%), and nausea and vomiting (17.6%). Diagnostic methods included computed tomography (CT) (82.3%), upper gastrointestinal double balloon enteroscopy (35.2%), and capsule endoscopy (5.8%). Diagnoses included adenocarcinoma in 13 cases, gastrointestinal stromal tumors (GISTs) in 12 cases, and neuroendocrine tumors (NETs) in two cases.
CONCLUSION
Small bowel tumors frequently present with abdominal pain, bloating, and nausea and vomiting. CT and endoscopic procedures are the primary diagnostic tools. Small bowel cancers are often diagnosed late due to subtle clinical findings and the limitations of endoscopic imaging. Targeted screening strategies may be beneficial for certain at-risk and symptomatic patient groups. Early surgical intervention offers significant advantages for diagnosed patients.
Topics: Humans; Male; Female; Middle Aged; Retrospective Studies; Intestinal Neoplasms; Capsule Endoscopy; Abdominal Pain; Vomiting; Nausea
PubMed: 38506384
DOI: 10.14744/tjtes.2024.33680 -
Medicine Nov 2023Transverse testicular ectopia (TTE) is a rare congenital malformation with a high rate of misdiagnosis and mistreatment before operation, which cannot be diagnosed even... (Review)
Review
RATIONALE
Transverse testicular ectopia (TTE) is a rare congenital malformation with a high rate of misdiagnosis and mistreatment before operation, which cannot be diagnosed even during operation due to lack of knowledge.
PATIENT CONCERNS
Two patients with ectopic testes who were misdiagnosed as right inguinal hernia for the first time and underwent surgery. The "ovary" and "testicle" like structures was seen in the right inguinal region during the first operation. After being transferred to our hospital for laparoscopic surgery, it was found that the left spermatic cord and testis were transversely transverted to the right, the left testis was fixed at the right inner ring, and agglomerated soft tissue could be seen in the right inguinal canal, which was suspected to be Muller tube.
DIAGNOSES
Based on preoperative images and intraoperative findings, both cases were diagnosed with Transverse testicular ectopia (TTE). The postoperative pathology report for the second patient revealed the presence of an in situ spermatogenic cell tumor in the ectopic testis.
INTERVENTIONS
Preperitoneal tension-free repair of right inguinal hernia and resection of left cryptorchidism were performed on the 2 patients.
OUTCOMES
Postoperative pathology of the first patient confirmed that the resected specimens contained tubal-like and uterine-like structures. The postoperative pathology of the second patient showed that the resected tissue consists of immature testis, epididymis, uterus and seminal vesicle glands, in which an in situ spermatogenic tumor could be seen in the testicular tissue. Postoperative diagnosis: left transversal testicular ectopia and right indirect inguinal hernia.
LESSONS
The clinical misdiagnosis and mistreatment rate of TTE is very high. Once the patients with cryptorchidism complicated with inguinal hernia are found in clinic, the possibility of the disease must be considered. For the patients whose cryptorchidism does not descend into the ipsilateral scrotum and it is difficult to diagnose, laparoscopy can be used for both diagnosis and treatment. If a patient has both inguinal hernia and cryptorchidism, it is crucial to rule out a diagnosis of TTE to prevent misdiagnosis and inappropriate treatment.
Topics: Humans; Male; Cryptorchidism; Diagnostic Errors; Hernia, Inguinal; Neoplasms; Testis
PubMed: 37933018
DOI: 10.1097/MD.0000000000035850 -
Journal of Clinical Immunology Nov 2023Delayed diagnosis of common variable immunodeficiency (CVID) remains a serious problem. We investigated whether some diseases diagnosed during out-patient visits or...
Missed Opportunities to Diagnose Common Variable Immunodeficiency: a Population-Based Case-Control Study Identifying Indicator Diseases for Common Variable Immunodeficiency.
PURPOSE
Delayed diagnosis of common variable immunodeficiency (CVID) remains a serious problem. We investigated whether some diseases diagnosed during out-patient visits or admission to hospitals could act as indicator conditions for CVID diagnosis.
METHODS
In this nested case-control study, we identified 128 cases diagnosed with CVID in Denmark (1999-2013) and 640 age-, gender-, and region-matched controls. We obtained data on diseases diagnosed at hospitals in the five years before CVID diagnosis from The National Hospital Registry. We grouped hospital diagnoses in 33 major disease categories and 210 subcategories. We used conditional logistic regression to calculate the odds ratios (OR) and 95% confidence intervals (CI) to estimate associations between disease exposure and subsequent CVID.
RESULTS
During the five years preceding a CVID diagnosis, cases had four times as many hospital contacts as the controls (p < 0.001). A diagnosis in 18 major disease categories showed a significant OR for subsequent diagnosis of CVID. The most substantial association with a subsequent CVID diagnosis was a diagnosis of lower respiratory tract infections (OR: 29.9; 95% CI: 14.2-63.2) and lung diseases (35.1; 15.0-82.5). We observed a similar association when we removed the last year before diagnosis from analysis and overall, in the years < 1, ≥ 1-3, and ≥ 3-5 before diagnosis, although the absolute number of exposures was small. Twenty-eight specific diseases displayed an at least 3-fold risk of subsequent CVID diagnosis.
CONCLUSION
Targeted screening for antibody deficiency in patients diagnosed with specific diseases associated with CVID may lead to earlier CVID diagnosis and treatment and thereby potentially reduced morbidity and mortality.
Topics: Humans; Case-Control Studies; Common Variable Immunodeficiency; Early Diagnosis; Odds Ratio; Registries
PubMed: 37770805
DOI: 10.1007/s10875-023-01590-9 -
BMC Primary Care Oct 2023Although early detection of lung cancer through screening is associated with better prognosis, most lung cancers are diagnosed among unscreened individuals. We therefore...
BACKGROUND
Although early detection of lung cancer through screening is associated with better prognosis, most lung cancers are diagnosed among unscreened individuals. We therefore sought to characterize pathways to lung cancer diagnosis among unscreened individuals.
METHODS
Participants were individuals with lung cancer who did not undergo asymptomatic lung cancer screening (n = 13) and healthcare providers who may be involved in the pathway to lung cancer diagnosis (n = 13). We conducted semi-structured interviews to identify themes in lung cancer patients' narratives of their cancer diagnoses and providers' personal and/or professional experiences of various pathways to lung cancer diagnoses, to identify delays in diagnosis. We audio-recorded, transcribed, and coded interviews in two stages. First, we conducted deductive coding using three time-period intervals from the Models of Pathways to Treatment framework: appraisal, help-seeking, and diagnostic (i.e., excluding pre-treatment). Second, we conducted inductive coding to identify themes within each time-period interval, and classified these themes as either barriers or facilitators to diagnosis. Coding and thematic summarization were completed independently by two separate analysts who discussed for consensus.
RESULTS
Eight of the patient participants had formerly smoked, and five had never smoked. We identified eight barrier/facilitator themes within the three time-period intervals. Within the appraisal interval, the barrier theme was (1) minimization or misattribution of symptoms, and the facilitator theme was (2) acknowledgment of symptoms. Within the help-seeking interval, the barrier theme was (3) hesitancy to seek care, and the facilitator theme was (4) routine care. Within the diagnosis interval, barrier themes were (5) health system challenges, and (6) social determinants of health; and facilitator themes were (7) severe symptoms and known risk factors, and (8) self-advocacy. Many themes were interrelated, including minimization or misattribution of symptoms and hesitancy to seek care, which may collectively contribute to care and imaging delays.
CONCLUSIONS
Interventions to reduce hesitancy to seek care may facilitate timely lung cancer diagnoses. More prompt referral to imaging-especially computed tomography (CT)-among symptomatic patients, along with patient self-advocacy for imaging, may reduce delays in diagnosis.
Topics: Humans; Lung Neoplasms; Early Detection of Cancer; Qualitative Research; Health Personnel
PubMed: 37789288
DOI: 10.1186/s12875-023-02158-7