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The American Journal of Medicine Apr 2022Diagnoses of amyloidosis, particularly transthyretin amyloid cardiomyopathy (ATTR-CM), are steadily increasing throughout the world, but the condition remains...
Diagnoses of amyloidosis, particularly transthyretin amyloid cardiomyopathy (ATTR-CM), are steadily increasing throughout the world, but the condition remains underdiagnosed. Patients with amyloidosis may present to a range of medical and surgical specialties, often with multisystemic disease, and a high index of clinical suspicion is required for diagnosis. Bone scintigraphy and cardiovascular magnetic resonance (CMR) imaging offer highly sensitive and specific imaging modalities for cardiac amyloidosis. Histological confirmation of amyloid deposition and amyloid type remains the cornerstone of diagnosis for most amyloid types, with transthyretin amyloid cardiomyopathy the exception, which may be diagnosed by validated nonbiopsy diagnostic criteria in the majority. Histological diagnosis of amyloid has been enhanced by laser capture microdissection and tandem mass spectrometry. Early diagnosis and treatment prior to the development of end-organ damage remains essential to improving morbidity and mortality for patients with amyloidosis.
Topics: Amyloid Neuropathies, Familial; Cardiomyopathies; Early Diagnosis; Humans; Magnetic Resonance Imaging; Prealbumin
PubMed: 35081377
DOI: 10.1016/j.amjmed.2022.01.004 -
JMIR Dermatology Sep 2022Challenges remain for general practitioners (GPs) in diagnosing (pre)malignant and benign skin lesions. Teledermoscopy (TDsc) supports GPs in diagnosing these skin...
BACKGROUND
Challenges remain for general practitioners (GPs) in diagnosing (pre)malignant and benign skin lesions. Teledermoscopy (TDsc) supports GPs in diagnosing these skin lesions guided by teledermatologists' (TDs) diagnosis and advice and prevents unnecessary referrals to dermatology care. However, the impact of the availability of TDsc on GPs' self-reported referral decisions to dermatology care before and after the TDsc consultation is unknown.
OBJECTIVE
The objective of this study is to assess and compare the initial self-reported referral decisions of GPs before TDsc versus their final self-reported referral decisions after TDsc for skin lesions diagnosed by the TD as (pre)malignant or benign.
METHODS
TDsc consultations requested by GPs in daily practice between July 2015 and June 2020 with a TD assessment and diagnosis were extracted from a nationwide Dutch telemedicine database. Based on GP self-administered questions, the GPs' referral decisions before and their final referral decision after TDsc consultation were assessed for (pre)malignant and benign TD diagnoses.
RESULTS
GP self-administered questions and TD diagnoses were evaluated for 6364 TDsc consultations (9.3% malignant, 8.8% premalignant, and 81.9% benign skin lesions). In half of the TDsc consultations, GPs adjusted their initial referral decision after TD advice and TD diagnosis. Initially, GPs did not have the intention to refer 67 (56.8%) of 118 patients with a malignant TD diagnosis and 26 (16.0%) of 162 patients with a premalignant TD diagnosis but then decided to refer these patients after the TDsc consultation. Furthermore, GPs adjusted their decision from referral to nonreferral for 2534 (74.9%) benign skin lesions (including 676 seborrheic keratosis and 131 vascular lesions).
CONCLUSIONS
GPs adjusted their referral decision in 52% (n=3306) of the TDsc consultations after the TD assessment. The availability of TDsc is thus of added value and assists GPs in their (non)referral for patients with skin lesions to dermatology care. TDsc resulted in referrals of patients with (pre)malignant skin lesions that GPs would not have referred directly to the dermatologist. TDsc also led to a reduction of unnecessary referrals of patients with low complex benign skin lesions (eg, seborrheic keratosis and vascular lesions).
PubMed: 37632902
DOI: 10.2196/40888 -
International Journal of... Jan 2024The most common organ affected due to tuberculosis (TB) is the lungs. Extrapulmonary TB is less common. Musculoskeletal organs are affected in around 8% of all...
BACKGROUND
The most common organ affected due to tuberculosis (TB) is the lungs. Extrapulmonary TB is less common. Musculoskeletal organs are affected in around 8% of all tubercular patients, of which the spine is affected in almost half of the patients. The criteria for diagnosing spinal TB are quite difficult and we use an array of investigations for the same.
METHODS
A retrospective study was carried out in the Neurosurgery and Microbiology Department at IMS and SUM Hospital between January 2021 and November 2023, and data were collected and tabulated in an Excel sheet. One hundred patients with spinal TB were evaluated, and their age, sex, samples sent, diagnostic investigation, duration of diagnosis from hospital admission, histopathology results, and surgical intervention (done or not) were recorded.
RESULTS
The best investigation done to diagnose spinal TB was imaging and surgical/computed tomography (CT)-guided biopsy. The earliest result to diagnose spinal TB was histopathology. The yield of positivity in pus culture, smear microscopy, and true nucleic acid amplification test (NAAT) was found to be low even though sensitivity was on the higher side.
CONCLUSION
Even though we have an array of investigations for diagnosing spinal TB, the best and the earliest diagnosing test was imaging plus CT-guided biopsy. The confirmation is made in the biopsy. Finding acid-fast bacteria (AFB) and NAAT tests are additional beneficial tests to supplement the diagnosis. Hence, we can conclude that sending for tests like AFB in pus, NAAT, and GeneXpert is a wastage of biological samples and delays in diagnosis.
Topics: Humans; Tuberculosis, Spinal; Retrospective Studies; Male; Female; Adult; Middle Aged; Mycobacterium tuberculosis; Young Adult; Aged; Tomography, X-Ray Computed; Adolescent; Biopsy; Nucleic Acid Amplification Techniques; Sensitivity and Specificity
PubMed: 38771286
DOI: 10.4103/ijmy.ijmy_14_24 -
Parkinsonism & Related Disorders Apr 2020New generation sequencing (NGS) genetic testing is a powerful diagnostic tool and is increasingly used in the clinical workup of patients, especially in unusual... (Review)
Review
New generation sequencing (NGS) genetic testing is a powerful diagnostic tool and is increasingly used in the clinical workup of patients, especially in unusual presentations or where a positive family history suggests heritable disease. This review addresses the NGS technologies Targeted sequencing (TS), Whole exome sequencing (WES), Whole genome sequencing (WGS), and the use of gene panels or gene lists for clinical diagnostic purposes. These methods primarily assess nucleotide sequence but can also detect copy number variants and many tandem repeat expansions, greatly simplifying diagnostic algorithms for movement disorders. Studies evaluating the efficacy of NGS in diagnosing movement disorders have reported a diagnostic yield of up to 10.1% for familial and 15.7% for early-onset PD, 11.7-37.5% for dystonia, 12.1-61.8% for ataxia/spastic paraplegia and 11.3-28% for combined movement disorders. Patient selection and stringency in the interpretation of the detected variants and genotypes affect diagnostic yield. Careful comparison of the patient's or family's disease features with the previously reported phenotype associated with the same variant or gene can avoid false-positive diagnoses, although some genes are implicated in various phenotypes. Moving from TS to WES and WGS increases the number of patients correctly diagnosed, but for many patients, a genetic cause cannot be identified today. However, new genetically defined entities are discovered at rapid pace, and genetic databases and our knowledge of genotype-phenotype correlations expand steadily. We discuss the need for clear communication of genetic results and suggest a list of aspects to consider when reporting neurogenetic disorders using NGS testing.
Topics: Genetic Testing; Humans; Movement Disorders; Exome Sequencing; Whole Genome Sequencing
PubMed: 32273229
DOI: 10.1016/j.parkreldis.2020.02.015 -
Radiographics : a Review Publication of... Sep 2023Alzheimer disease (AD) is the most common form of dementia worldwide. Treatment of AD has mainly been focused on symptomatic treatment until recently with the advent and...
Alzheimer disease (AD) is the most common form of dementia worldwide. Treatment of AD has mainly been focused on symptomatic treatment until recently with the advent and approval of monoclonal antibody (MAB) immunotherapy. U.S. Food and Drug Administration-approved drugs such as aducanumab, as well as upcoming newer-generation drugs, have provided an exciting new therapy focused on reducing the amyloid plaque burden in AD. Although this new frontier has shown benefits for patients, it is not without complications, which are mainly neurologic. Increased use of MABs led to the discovery of amyloid-related imaging abnormalities (ARIA). ARIA has been further classified into two categories, ARIA-E and ARIA-H, representing edema and/or effusion and hemorrhage, respectively. ARIA is thought to be caused by increased vascular permeability following an inflammatory response, leading to the extravasation of blood products and proteinaceous fluid. Patients with ARIA may present with headaches, but they are usually asymptomatic and ARIA is only diagnosable at MRI; it is essential for the radiologist to recognize and monitor ARIA. Increased incidence and investigation into this concern have led to the creation of grading scales and monitoring guidelines to diagnose and guide treatment using MABs. Cerebral amyloid angiopathy has an identical pathogenesis to that of ARIA and is its closest differential diagnosis, with imaging findings being the same for both entities and only a history of MAB administration allowing differentiation. The authors discuss the use of MABs for treating AD, expand on ARIA and its consequences, and describe how to identify and grade ARIA to guide treatment properly. RSNA, 2023 Quiz questions for this article are available through the Online Learning Center See the invited commentary by Yu in this issue.
Topics: United States; Humans; Alzheimer Disease; Amyloid beta-Peptides; Diagnostic Imaging; Immunotherapy; Antibodies, Monoclonal
PubMed: 37651273
DOI: 10.1148/rg.230009 -
American Journal of Rhinology & Allergy May 2022Cerebrospinal fluid (CSF) rhinorrhea results from abnormal communications between the subarachnoid and sinonasal spaces. Accurate preoperative diagnosis and localization...
BACKGROUND
Cerebrospinal fluid (CSF) rhinorrhea results from abnormal communications between the subarachnoid and sinonasal spaces. Accurate preoperative diagnosis and localization are vital for positive clinical outcomes. However, the diagnosis and localization of CSF rhinorrhea remain suboptimal due to a lack of accurate understanding of test characteristics.
OBJECTIVE
This systematic review aims to assess the diagnostic accuracy of various tests and imaging modalities for diagnosing and localizing CSF rhinorrhea.
METHODS
A systematic review of the MEDLINE and EMBASE databases was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.
RESULTS
Our search identified 4039 articles-53 cohort studies and 24 case series describing 1622 patients were included. The studies were heterogeneous and had a wide range of sensitivities and specificities. Many specificities were incalculable due to a lack of true negative and false positive results, thus precluding a meta-analysis. Median sensitivities and specificities were calculated for cohort studies of the following investigations: high-resolution computed tomography (HRCT) 0.93/0.50 (sensitivity/specificity), magnetic resonance cisternography (MRC) 0.94/0.77, computed tomography cisternography (CTC) 0.95/1.00, radionuclide cisternography (RNC) 0.90/0.50, and contrast-enhanced magnetic resonance cisternography (CEMRC) 0.99/1.00, endoscopy 0.58/1.00, topical intranasal fluorescein (TIF) 1.00/incalculable, intrathecal fluorescein (ITF) 0.96/1.00. Case series were reviewed separately. Etiology and site-specific data were also analyzed.
CONCLUSION
MR cisternography is more accurate than high-resolution CT at diagnosing and localizing CSF rhinorrhea. CT cisternography, contrast-enhanced MR cisternography, and radionuclide cisternography have good diagnostic characteristics but are invasive. Intrathecal fluorescein shows promising data but has not been widely adopted for purely diagnostic use. Office endoscopy has limited data but does not sufficiently diagnose CSF rhinorrhea independently. These findings confirm with current guidelines and evidence.
Topics: Cerebrospinal Fluid Rhinorrhea; Fluorescein; Humans; Magnetic Resonance Imaging; Sensitivity and Specificity; Tomography, X-Ray Computed
PubMed: 34846218
DOI: 10.1177/19458924211060918 -
BMC Medical Imaging Oct 2021The outbreak of coronavirus disease 2019 (COVID-19) causes tens of million infection world-wide. Many machine learning methods have been proposed for the computer-aided... (Review)
Review
BACKGROUND
The outbreak of coronavirus disease 2019 (COVID-19) causes tens of million infection world-wide. Many machine learning methods have been proposed for the computer-aided diagnosis between COVID-19 and community-acquired pneumonia (CAP) from chest computed tomography (CT) images. Most of these methods utilized the location-specific handcrafted features based on the segmentation results to improve the diagnose performance. However, the prerequisite segmentation step is time-consuming and needs the intervention by lots of expert radiologists, which cannot be achieved in the areas with limited medical resources.
METHODS
We propose a generative adversarial feature completion and diagnosis network (GACDN) that simultaneously generates handcrafted features by radiomic counterparts and makes accurate diagnoses based on both original and generated features. Specifically, we first calculate the radiomic features from the CT images. Then, in order to fast obtain the location-specific handcrafted features, we use the proposed GACDN to generate them by its corresponding radiomic features. Finally, we use both radiomic features and location-specific handcrafted features for COVID-19 diagnosis.
RESULTS
For the performance of our generated location-specific handcrafted features, the results of four basic classifiers show that it has an average of 3.21% increase in diagnoses accuracy. Besides, the experimental results on COVID-19 dataset show that our proposed method achieved superior performance in COVID-19 vs. community acquired pneumonia (CAP) classification compared with the state-of-the-art methods.
CONCLUSIONS
The proposed method significantly improves the diagnoses accuracy of COVID-19 vs. CAP in the condition of incomplete location-specific handcrafted features. Besides, it is also applicable in some regions lacking of expert radiologists and high-performance computing resources.
Topics: COVID-19; Deep Learning; Diagnosis, Computer-Assisted; Humans; Machine Learning; SARS-CoV-2; Tomography, X-Ray Computed
PubMed: 34674660
DOI: 10.1186/s12880-021-00681-6 -
Scientific Reports Nov 2020Heart disease is a fatal human disease, rapidly increases globally in both developed and undeveloped countries and consequently, causes death. Normally, in this disease,...
Heart disease is a fatal human disease, rapidly increases globally in both developed and undeveloped countries and consequently, causes death. Normally, in this disease, the heart fails to supply a sufficient amount of blood to other parts of the body in order to accomplish their normal functionalities. Early and on-time diagnosing of this problem is very essential for preventing patients from more damage and saving their lives. Among the conventional invasive-based techniques, angiography is considered to be the most well-known technique for diagnosing heart problems but it has some limitations. On the other hand, the non-invasive based methods, like intelligent learning-based computational techniques are found more upright and effectual for the heart disease diagnosis. Here, an intelligent computational predictive system is introduced for the identification and diagnosis of cardiac disease. In this study, various machine learning classification algorithms are investigated. In order to remove irrelevant and noisy data from extracted feature space, four distinct feature selection algorithms are applied and the results of each feature selection algorithm along with classifiers are analyzed. Several performance metrics namely: accuracy, sensitivity, specificity, AUC, F1-score, MCC, and ROC curve are used to observe the effectiveness and strength of the developed model. The classification rates of the developed system are examined on both full and optimal feature spaces, consequently, the performance of the developed model is boosted in case of high variated optimal feature space. In addition, P-value and Chi-square are also computed for the ET classifier along with each feature selection technique. It is anticipated that the proposed system will be useful and helpful for the physician to diagnose heart disease accurately and effectively.
Topics: Adult; Aged; Aged, 80 and over; Artificial Intelligence; Computational Biology; Female; Follow-Up Studies; Heart Diseases; Humans; Machine Learning; Male; Middle Aged; Models, Statistical; Prognosis; ROC Curve
PubMed: 33184369
DOI: 10.1038/s41598-020-76635-9 -
BJR Case Reports Nov 2022Prostate cancer accounts for 13% of all new cancer diagnoses in the UK. Urosymphyseal fistulas are a rare complication that can occur post-radiotherapy and surgery for...
Prostate cancer accounts for 13% of all new cancer diagnoses in the UK. Urosymphyseal fistulas are a rare complication that can occur post-radiotherapy and surgery for prostate cancer. Patients often present with non-specific symptoms such as suprapubic tenderness, poor mobility, recurrent urinary infections, and difficulty passing urine. These can be difficult to diagnose clinically and extremely problematic and debilitating for patients. The management of these patients is often complex and requires input from urology, orthopaedics, and microbiology. At present, there are no clear guidelines for diagnosing these conditions. Recommended investigations include blood tests, urine culture, and imaging. The preferred imaging modality is pelvic MRI. This article explores three rare cases of such complications and the classic imaging findings on CT and MRI to aid the diagnosis of urosymphyseal fistula.
PubMed: 36632548
DOI: 10.1259/bjrcr.20210217 -
Chinese Clinical Oncology Dec 2021The purpose of this narrative review is to summarize the contributors to misdiagnosis or delayed diagnosis of inflammatory breast cancer (IBC) and strategies for... (Review)
Review
OBJECTIVE
The purpose of this narrative review is to summarize the contributors to misdiagnosis or delayed diagnosis of inflammatory breast cancer (IBC) and strategies for expedient diagnosis.
BACKGROUND
Patients with IBC often report the disease as initially being misdiagnosed, most commonly as mastitis.
METHODS
We reviewed the literature on this challenging diagnosis by using sequential PubMed search criteria including IBC breast symptoms, IBC diagnosis, and IBC imaging modalities to augment the authors' knowledge of IBC. Other references were added from the manuscripts identified in the PubMed searches and from manuscript reviewers.
CONCLUSIONS
Several factors contribute to the delayed diagnosis of IBC. One important factor is that IBC is uncommon, and many generalists may not be aware of it in the differential diagnosis of breast skin symptoms. Several features of IBC contribute to the low sensitivity of mammography for its detection, and so the diagnosis is based on clinical factors and is thereby subjective. The presentation can be highly varied; classic textbook images that do not capture the range of presenting signs and symptoms across skin tones may contribute to missed diagnoses in patients with atypical presentations. In fact, the staging system of the American Joint Committee on Cancer, which requires erythema of the breast skin for diagnosis, may exclude patients with obvious global breast skin findings that are not explicitly red. We present an adapted algorithm for working up the undiagnosed inflammatory breast to ensure the timely and accurate diagnosis of IBC. We assert that frank, non-erythematous global skin signs in an enlarged breast with diffuse breast malignancy are sufficient to diagnose IBC if the timing of these signs and findings on biopsy are consistent. We further provide images of atypical IBC identified by global breast skin signs, including peau d'orange, consistent with IBC in the absence of frank erythema.
Topics: Breast Neoplasms; Diagnosis, Differential; Female; Humans; Inflammatory Breast Neoplasms
PubMed: 35016512
DOI: 10.21037/cco-21-116