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Urology Dec 2022To analyze the accuracy of the 4 most commonly used online symptom checkers (OSCs) in diagnosing erectile dysfunction (ED), scrotal pain (SP), Peyronie's disease (PD),...
OBJECTIVE
To analyze the accuracy of the 4 most commonly used online symptom checkers (OSCs) in diagnosing erectile dysfunction (ED), scrotal pain (SP), Peyronie's disease (PD), and low testosterone (LT).
METHODS AND OUTCOMES
One-hundred and sixty artificial vignettes were created by de-identifying recent initial outpatient consults presenting to discuss ED (40), SP (40), PD (40), and LT (40). The vignettes were entered into the 4 most frequently used OSCs (WebMD, MedicineNet, EverydayHealth, and SutterHealth) as determined by web traffic analysis tools. The top 5 conditions listed in the OSC differential diagnosis were recorded and scored.
RESULTS
WebMD's accuracy for ED, SP, PD, and LT vignettes was 0%, 22.5%, 0%, and 95%, respectively. EverydayHealth was only able to diagnose SP 20% of the time, and failed to diagnose ED, PD, or LT on all occasions. MedicineNet diagnosed ED, PD, SP, and LT in 100%, 98%, 27.5%, and 0% of vignettes, respectively. SutterHealth correctly diagnosed ED, SP, and LT in 100%, 20%, and 80% of patients, respectively. Cumulatively, the OSCs were most accurate in diagnosing ED and least accurate in diagnosing SP when using the Top 1 (37.5% vs 6.9%) and Top 5 (50% vs 24.5%) of the suggested conditions.
CONCLUSION
No OSC could accurately diagnose all the conditions tested. The OSCs, on average, were poor at suggesting precise diagnoses for ED, PD, LT, SP. Patients and practitioners should be cautioned regarding the accuracy of OSCs.
Topics: Male; Humans; Men's Health; Penile Induration; Erectile Dysfunction; Diagnosis, Differential; Data Collection
PubMed: 36115428
DOI: 10.1016/j.urology.2022.08.032 -
Japanese Journal of Radiology Jan 2021Lesions in the middle and posterior mediastinum are relatively rare, but there are some useful radiological clues that can be used to diagnose them precisely. It is... (Review)
Review
Lesions in the middle and posterior mediastinum are relatively rare, but there are some useful radiological clues that can be used to diagnose them precisely. It is useful to determine the affected mediastinal compartment and the locations of the main thoracic nerves on medical images for diagnosing such mediastinal lesions. Neurogenic tumors can occur in the middle mediastinum, although they generally arise as posterior mediastinal tumors. Based on the above considerations, we review various characteristic imaging findings of middle and posterior mediastinal lesions, and their differential diagnoses.
Topics: Diagnosis, Differential; Diagnostic Imaging; Female; Humans; Magnetic Resonance Imaging; Mediastinal Neoplasms; Mediastinum; Middle Aged; Radiography; Tomography, X-Ray Computed
PubMed: 32740793
DOI: 10.1007/s11604-020-01025-0 -
Journal of Clinical Pathology Nov 2021An increasing number of small pulmonary nodules are being screened by CT, and an intraoperative diagnosis is necessary for preventing excessive treatment. However, there...
AIMS
An increasing number of small pulmonary nodules are being screened by CT, and an intraoperative diagnosis is necessary for preventing excessive treatment. However, there is limited literature on the frozen diagnosis of small sclerosing pneumocytomas (SPs). In particular, tumours smaller than 1 cm are challenging for pathologists performing intraoperative frozen diagnosis.
METHODS
In total, 230 cases of SP were surgically resected between January 2015 and March 2019 at Shanghai Chest Hospital, and of them, 76 cases were smaller than 1 cm. The histology and clinical information of these 76 cases (33.0%, 76/230) were reviewed retrospectively, 54 cases of which were diagnosed intraoperatively, and the pitfalls were summarised. All diagnoses were confirmed on permanent sections and immunohistochemical sections.
RESULTS
Histologically, 78.9% (60/76) of the small SP was dominated by one growth pattern, and solid and papillary growth pattern were the most commonly misdiagnosed circumstances. The rate of intraoperative misdiagnosis of these SP smaller than 1 cm was 11.1% (6/54).
CONCLUSIONS
The main reason for misdiagnosis was failure to recognise the dual cell populations and the cellular atypia. Diagnostic clues include the gross morphology, the presence of dual-cell populations and a hypercellular papillary core, foam cell accumulation in glandular spaces and haemorrhage and haemosiderin on the periphery. In spite of awareness of pitfalls some cases may still be essentially impossible to diagnose on frozen section.
Topics: Adult; Aged; Cytodiagnosis; Diagnosis, Differential; Diagnostic Errors; Female; Frozen Sections; Humans; Intraoperative Period; Lung Neoplasms; Male; Middle Aged; Multiple Pulmonary Nodules; Retrospective Studies; Sclerosis; Sensitivity and Specificity; Solitary Pulmonary Nodule
PubMed: 33782195
DOI: 10.1136/jclinpath-2020-206729 -
European Radiology Aug 2022To evaluate the feasibility and accuracy of diagnosing acute heart failure (HF) with CT pulmonary angiography (CTPA) in emergency department patients.
OBJECTIVES
To evaluate the feasibility and accuracy of diagnosing acute heart failure (HF) with CT pulmonary angiography (CTPA) in emergency department patients.
METHODS
In this retrospective single-center study, we evaluated 150 emergency department patients (mean age 65 ± 17 years) undergoing CTPA with a fixed scan (100 kVp) and contrast media protocol (60 mL, 4 mL/s) who had no pulmonary embolism (PE). Patients were subdivided into training cohort (n = 100) and test cohort (n = 50). Three independent, blinded readers measured the attenuation in the right ventricle (RV) and left ventricle (LV) on axial images. The ratio (HU) and difference (HU) between RV and LV attenuation were calculated. Diagnosis of acute HF was made on the basis of clinical, laboratory, and echocardiography data. Optimal thresholds, sensitivity, and specificity were calculated using the area under the curve (AUC) from receiver operating characteristics analysis.
RESULTS
Fifty-nine of the 150 patients (40%) were diagnosed with acute HF. Attenuation measurements showed an almost perfect interobserver agreement (intraclass correlation coefficient: 0.986, 95%CI: 0.980-0.991). NT-pro BNP exhibited moderate correlations with HU (r = 0.50, p < 0.001) and HU (r = 0.50, p < 0.001). In the training cohort, HU (AUC: 0.89, 95%CI: 0.82-0.95) and HU (AUC: 0.88, 95%CI: 0.81-0.95) showed a very good performance to diagnose HF. Optimal cutoff values were 1.42 for HU (sensitivity 93%; specificity 75%) and 113 for HU (sensitivity 93%; specificity 73%). Applying these thresholds to the test cohort yielded a sensitivity of 89% and 89% and a specificity of 69% and 63% for HU and HU, respectively.
CONCLUSION
In emergency department patients undergoing CTPA and showing no PE, both HU and HU have a high sensitivity for diagnosing acute HF.
KEY POINTS
• Heart failure is a common differential diagnosis in patients undergoing CT pulmonary angiography. • In emergency department patients undergoing CT pulmonary angiography and showing no pulmonary embolism, attenuation differences of the left and right ventricle have a high sensitivity for diagnosing acute heart failure.
Topics: Aged; Aged, 80 and over; Angiography; Computed Tomography Angiography; Feasibility Studies; Heart Failure; Humans; Middle Aged; Pulmonary Embolism; Retrospective Studies; Sensitivity and Specificity; Tomography, X-Ray Computed
PubMed: 35294585
DOI: 10.1007/s00330-022-08676-9 -
Radiographics : a Review Publication of... 2018Acute cholecystitis is the most common diagnosable cause for right upper quadrant abdominal (RUQ) pain in patients who present to the emergency department (ED). However,... (Review)
Review
Acute cholecystitis is the most common diagnosable cause for right upper quadrant abdominal (RUQ) pain in patients who present to the emergency department (ED). However, over one-third of patients initially thought to have acute cholecystitis actually have RUQ pain attributable to other causes. Ultrasonography (US) is the primary imaging modality of choice for initial imaging assessment and serves as a fast, cost-effective, and dynamic modality to provide a definitive diagnosis or a considerably narrowed list of differential possibilities. Multiple organ systems are included at standard RUQ US, and a variety of ultrasonographically diagnosable disease processes can be identified, including conditions of hepatic, pancreatic, adrenal, renal, gastrointestinal, vascular, and thoracic origin, all of which may result in RUQ pain. In certain cases, subsequent computed tomography, magnetic resonance (MR) imaging, MR cholangiopancreatography, or cholescintigraphy may be considered, depending on the clinical situation and US findings. Familiarity with the spectrum of disease processes outside of the gallbladder and biliary tree that may manifest with RUQ pain and recognition at US of these alternative conditions is pivotal for early diagnosis and appropriate management. Diagnosis at the time of initial US can reduce unnecessary imaging and its consequences, including excess cost, radiation exposure, nephrotoxic contrast medium use, and time to diagnosis, thereby translating into improved patient care and outcome. This article (a) reviews the causes of RUQ pain identifiable at US using an organ-system approach, (b) illustrates the US appearance of select conditions from each organ system with multimodality imaging correlates, and (c) discusses the relevant pathophysiology and treatment of these entities to aid in efficient direction of management. Online supplemental material is available for this article. RSNA, 2018.
Topics: Abdominal Pain; Contrast Media; Diagnosis, Differential; Digestive System Diseases; Emergency Service, Hospital; Humans; Thoracic Diseases; Ultrasonography; Urologic Diseases; Vascular Diseases
PubMed: 29757718
DOI: 10.1148/rg.2018170149 -
Clinical Dysmorphology Jul 2022Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a retrospective... (Review)
Review
Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a retrospective analysis of all patients diagnosed with mosaic disorders between 2010 and 2021 in a university-affiliated genetics clinic, which attends to territory-wide genetic consultations. All patients with confirmed mosaic diagnoses through reproductive (n = 6), prenatal (n = 24), and postnatal (n = 53) testing were examined. We observed that mosaic 45, X (n = 31) and PIK3CA-related overgrowth spectrum (n = 16) disorders were among the most prevalent diagnoses in the clinic, and the total percentage of patients with mosaicism in our cohort was 2.0% (83/4157). A review of the diagnostic journey highlights the challenge in diagnosing mosaic disorders, whereby 38% of the subjects required more than one test sample, and 52% of the cases required more than one orthogonal method of detection to reach the correct diagnosis. While detection of mosaicism is passive through routine clinical testing, for example karyotyping in reproductive and prenatal care, in postnatal care, clinicians can more actively drive the detection of mosaicism. Therefore, we recommend a low threshold for additional genetic testing in suspected mosaicism for more accurate diagnosis and counselling.
Topics: Female; Genetic Testing; Humans; Karyotyping; Mosaicism; Pregnancy; Retrospective Studies; Universities
PubMed: 35256561
DOI: 10.1097/MCD.0000000000000418 -
Continuum (Minneapolis, Minn.) Feb 2018This article provides an overview of genetic metabolic disorders that can be identified by metabolic tests readily available to neurologists, such as tests for ammonia,... (Review)
Review
PURPOSE OF REVIEW
This article provides an overview of genetic metabolic disorders that can be identified by metabolic tests readily available to neurologists, such as tests for ammonia, plasma amino acids, and urine organic acids. The limitations of these tests are also discussed, as they only screen for a subset of the many inborn errors of metabolism that exist.
RECENT FINDINGS
Advances in next-generation sequencing and the emerging use of advanced metabolomic screening have made it possible to diagnose treatable inborn errors of metabolism that are not included in current newborn screening programs. Some of these inborn errors of metabolism are especially likely to present with nonspecific neurologic phenotypes, such as epilepsy, ataxia, or intellectual disability. However, cost may be a barrier to obtaining these newer tests. It is important to keep in mind that common metabolic testing may lead to treatable diagnoses. Resources are available to guide neurologists in diagnosing genetic metabolic conditions.
SUMMARY
This article introduces the clinical presentations of treatable inborn errors of metabolism that are important for neurologists to consider in patients of all ages. Inborn errors of metabolism are rare, but they can present with neurologic symptoms. Newborns are now screened for many treatable metabolic disorders, but these screening tests may miss milder presentations of treatable inborn errors of metabolism that present later in life. These patients may present to adult neurologists who may be less likely to consider metabolic genetic testing.
Topics: Adolescent; Child; Child, Preschool; Female; Genetic Testing; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors
PubMed: 29432236
DOI: 10.1212/CON.0000000000000563 -
JCO Oncology Practice Jan 2021Approximately 13% of the US population report mobility disability. People with mobility disability experience healthcare disparities, including lower rates of cancer...
PURPOSE
Approximately 13% of the US population report mobility disability. People with mobility disability experience healthcare disparities, including lower rates of cancer screening and substandard cancer care compared with nondisabled people. We explored clinicians' reports of aspects of diagnosing and treating three common cancer types among persons with pre-existing mobility disability.
METHODS
We used standard diagnosis codes and natural language processing to screen electronic health records (EHR) in the Research Patient Data Repository for patients with pre-existing chronic mobility impairment who were newly diagnosed with one of three common cancers (colorectal, prostate, and non-Hodgkin lymphoma) between 2005 and 2017. We eliminated numerous cases whose EHRs lacked essential information. We reviewed EHRs of 27 cases, using conventional content analysis to identify themes concerning their cancer diagnoses and treatments.
RESULTS
Clinicians' notations coalesced around four major themes: (1) patients' health risks raise concerns about diagnostic processes; (2) cancer signs or symptoms can be erroneously attributed to the patient's underlying disabling condition, delaying diagnosis; (3) disability complicates cancer treatment decisions; and (4) problems with equipment accessibility and disability accommodations impede cancer diagnoses.
DISCUSSION
Clinicians view patients with pre-existing mobility disability as often clinically complex, presenting challenges for diagnosing and treating their cancer. Nonetheless, these patients may experience substandard care because of disability-related problems. Given the growing population of people with mobility disability, further efforts to improve care quality and timeliness of diagnosis are warranted.
Topics: Disabled Persons; Early Detection of Cancer; Electronic Health Records; Healthcare Disparities; Humans; Male; Natural Language Processing; Neoplasms
PubMed: 33351675
DOI: 10.1200/OP.20.00378 -
Current Opinion in Allergy and Clinical... Apr 2022To highlight the recent evidence of the lung function techniques used in preschool children to diagnose asthma. (Review)
Review
PURPOSE OF REVIEW
To highlight the recent evidence of the lung function techniques used in preschool children to diagnose asthma.
RECENT FINDINGS
Several techniques are available to measure lung function and airway inflammation in preschool children, including spirometry (from age 5 years), impulse oscillometry (>3 years), whole-body plethysmography (>3 years), fractional exhaled nitric oxide (FeNO) (>5 years), multiple breath washout (>3 years), structured light plethysmography (>1-2 years) and impedance pneumography (>1 years). If applicable, measuring forced expiratory volume in 1 s (FEV1) and FEV1/forced vital capacity (FVC) ratio using spirometry is useful (cut-off < 80% predicted or below lower limit of normal [LLN] defined as z-score < -1.64) for diagnosing preschool asthma. For those unable to perform spirometry, whole-body plethysmography (sRaw > 1.6 kPa/s) and impulse oscillometry (Rrs and Xrs at 5 Hz z-score > 2) may be useful. Adding a bronchodilator reversibility test (FEV1 increase > 12%, sRaw decrease > 25-30%, Rrs at 5 Hz decrease > 40%) or a bronchial challenge test, for example, exercise test (FEV1 decrease > 10%), may improve the sensitivity of these tests. Elevated FeNO (>25-35 ppb) is a promising adjunctive test for diagnosing preschool asthma.
SUMMARY
With trained personnel, lung function testing can be done with high reliability even in children between 2 and 4 years of age. To avoid over and undertreatment of asthma, objective measurement of lung function is clinically important in preschool children.
Topics: Asthma; Breath Tests; Bronchial Provocation Tests; Child, Preschool; Forced Expiratory Volume; Humans; Nitric Oxide; Reproducibility of Results; Spirometry
PubMed: 35197431
DOI: 10.1097/ACI.0000000000000815 -
Spine Deformity Oct 2020Retrospective case series.
STUDY DESIGN
Retrospective case series.
OBJECTIVES
To describe how pediatric patients with spinal and pelvic osteomyelitis are diagnosed and treated and assess the diagnostic value of magnetic resonance imaging (MRI), needle aspiration biopsy (NAB), and blood cultures in this population. Spinal and pelvic osteomyelitis de novo are uncommon in children and minimal literature exists on the subject. Research has shown that NAB and blood cultures have variable diagnostic yield in adult native osteomyelitis. At our institution, there is no standard protocol for diagnosing and treating pediatric spinal and pelvic osteomyelitis de novo.
METHODS
All diagnoses of spinal and pelvic osteomyelitis at a pediatric tertiary care center from 2003 to 2017 were reviewed. Patients aged 0-21 at diagnosis were included. Patients with osteomyelitis resulting from prior spinal operations, wounds, or infections and those with chronic recurrent multifocal osteomyelitis were eliminated. All eligible patients' diagnoses were confirmed by MRI.
RESULTS
29 patients (18 men, 11 women) met the inclusion criteria. The median age at diagnosis was 11 years old (range 1-18). More than half of all cases (17/29, 59%) affected the lumbar spine. The most common symptoms were back pain (20/29, 69%), fever (18/29, 62%), hip pain (11/29, 38%), and leg pain (8/29, 28%). The majority of NABs and blood cultures performed were negative, but of the positive tests Staphylococcus aureus was the most prevalent bacteria. 86% (25/29) had an MRI before a diagnosis was made and 72% (13/18) had an NAB performed post-diagnosis.
CONCLUSIONS
MRI is a popular and helpful tool in diagnosing spinal osteomyelitis de novo. NAB cultures are often negative but can be useful in determining antibiotic treatment.
LEVEL OF EVIDENCE
Level IV.
Topics: Adolescent; Biopsy, Fine-Needle; Blood Culture; Child; Child, Preschool; Female; Humans; Infant; Lumbar Vertebrae; Magnetic Resonance Imaging; Male; Osteomyelitis; Pelvic Inflammatory Disease; Retrospective Studies; Sensitivity and Specificity; Spinal Diseases; Staphylococcal Infections
PubMed: 32306283
DOI: 10.1007/s43390-020-00110-8