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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 -
Clinics in Chest Medicine Jun 2024The American Thoracic Society/European Respiratory Society/Japanese Respiratory Society/Asociación Latinoamericana de Tórax 2018 clinical practice guideline and 2022... (Review)
Review
The American Thoracic Society/European Respiratory Society/Japanese Respiratory Society/Asociación Latinoamericana de Tórax 2018 clinical practice guideline and 2022 update provide recommendations to define and diagnose idiopathic pulmonary fibrosis (IPF) in patients with newly diagnosed interstitial lung disease. The guideline emphasizes recognition of usual interstitial pneumonia (UIP) and probable UIP patterns of fibrosis on high-resolution CT, which can obviate the need for surgical lung biopsy and allow timely initiation of antifibrotic pharmacotherapy citing a high correlation with UIP on histopathology. This article reviews the recent 2022 IPF clinical practice guideline with a focus on the imaging updates.
Topics: Humans; Lung Diseases, Interstitial; Tomography, X-Ray Computed; Practice Guidelines as Topic; Lung; Idiopathic Pulmonary Fibrosis; Biopsy
PubMed: 38816097
DOI: 10.1016/j.ccm.2023.08.015 -
Nursing Standard (Royal College of... Jan 2024Cellulitis is an acute bacterial infection that affects the deep dermis and surrounding subcutaneous tissue. Although it is a common condition, it is often misdiagnosed...
Cellulitis is an acute bacterial infection that affects the deep dermis and surrounding subcutaneous tissue. Although it is a common condition, it is often misdiagnosed because it can mimic a range of conditions that also cause inflamed, red, irritated and painful skin. Such misdiagnoses may lead to unnecessary hospital admissions and antibiotic overuse, with most alternative diagnoses being non-infectious. Undertaking a holistic patient assessment, skin assessment and thorough clinical history is important in the diagnosis of cellulitis, and it is vital to use a collaborative multidisciplinary approach in its acute management and to prevent recurrence. This article defines the term cellulitis and explores its presenting features. The author also discusses the associated risk factors, clinical assessment techniques and effective management strategies, as well as outlining the actions that nurses can take to prevent recurrence.
Topics: Humans; Cellulitis; Anti-Bacterial Agents; Hospitalization; Diagnostic Errors; Diagnosis, Differential
PubMed: 38044818
DOI: 10.7748/ns.2023.e12187 -
JAMA Dermatology Apr 2024Pathologic assessment to diagnose skin biopsies, especially for cutaneous melanoma, can be challenging, and immunohistochemistry (IHC) staining has the potential to aid...
IMPORTANCE
Pathologic assessment to diagnose skin biopsies, especially for cutaneous melanoma, can be challenging, and immunohistochemistry (IHC) staining has the potential to aid decision-making. Currently, the temporal trends regarding the use of IHC for the examination of skin biopsies on a national level have not been described.
OBJECTIVE
To illustrate trends in the use of IHC for the examination of skin biopsies in melanoma diagnoses.
DESIGN, SETTING, AND PARTICIPANTS
A retrospective cross-sectional study was conducted to examine incident cases of melanoma diagnosed between January 2000 and December 2017. The analysis used the SEER-Medicare linked database, incorporating data from 17 population-based registries. The study focused on incident cases of in situ or malignant melanoma of the skin diagnosed in patients 65 years or older. Data were analyzed between August 2022 and November 2023.
MAIN OUTCOMES AND MEASURES
The main outcomes encompassed the identification of claims for IHC within the month of melanoma diagnoses and extending up to 14 days into the month following diagnosis. The SEER data on patients with melanoma comprised demographic, tumor, and area-level characteristics.
RESULTS
The final sample comprised 132 547 melanoma tumors in 116 117 distinct patients. Of the 132 547 melanoma diagnoses meeting inclusion criteria from 2000 to 2017, 43 396 cases had accompanying IHC claims (33%). Among these cases, 28 298 (65%) were diagnosed in male patients, 19 019 (44%) were diagnosed in patients aged 65 years to 74 years, 16 444 (38%) in patients aged 75 years to 84 years, and 7933 (18%) in patients aged 85 years and older. In 2000, 11% of melanoma cases had claims for IHC at or near the time of diagnosis. This proportion increased yearly, with 51% of melanoma cases having associated IHC claims in 2017. Increasing IHC use is observed for all stages of melanoma, including in situ melanoma. Claims for IHC in melanomas increased in all 17 SEER registries but at different rates. In 2017, the use of IHC for melanoma diagnosis ranged from 39% to 68% across registries.
CONCLUSIONS AND RELEVANCE
Considering the dramatically rising and variable use of IHC in diagnosing melanoma by pathologists demonstrated in this retrospective cross-sectional study, further investigation is warranted to understand the clinical utility and discern when IHC most improves diagnostic accuracy or helps patients.
Topics: Humans; Male; Aged; United States; Melanoma; Skin Neoplasms; Retrospective Studies; Immunohistochemistry; Cross-Sectional Studies; Medicare
PubMed: 38446470
DOI: 10.1001/jamadermatol.2023.6417 -
Irish Journal of Medical Science Apr 2024Cardiac myxomas (CM) are one of the most common benign tumors which are typical in adults with a yearly incidence of 0.5-1 case per million individuals. This review... (Review)
Review
Cardiac myxomas (CM) are one of the most common benign tumors which are typical in adults with a yearly incidence of 0.5-1 case per million individuals. This review article includes discussions based on existing literature on the role of interleukin interactions in the pathophysiology of cardiac myxoma which can lead to embolic complications, aneurysms, and CNS involvement. The objective of this narrative review was to study the variable clinical presentations of cardiac myxoma, its detection and diagnosis involving multiple modalities like genetic and hematological testing, echocardiography, CT, and MRI, of which transoesophageal echocardiogram shows excellent precision with a 90% to 96% accuracy in diagnosing CM. Individuals with the Carney complex are prone to such neoplasia. Cardiac myxomas are challenging to diagnose due to the ambiguity of their differential with thrombi. Myxomas can also be diagnosed by tumor markers like interleukin-6 and endothelial growth factors. The management of CM includes surgical excision like median sternotomy and robotic minimally invasive surgery. The use of robotic surgery in CM increased from 1.8% in 2012 to 15.1% in 2018. Tumor recurrences are uncommon but can occur due to inadequate surgical resection.
Topics: Adult; Humans; Neoplasm Recurrence, Local; Heart Neoplasms; Myxoma; Echocardiography; Magnetic Resonance Imaging
PubMed: 37737916
DOI: 10.1007/s11845-023-03531-2 -
The Journal of the Association of... Sep 2023Hyperglycemia occurring in pregnancy is a growing burden worldwide. It is now standard of care to screen all women during pregnancy, both to detect preexisting diabetes...
Hyperglycemia occurring in pregnancy is a growing burden worldwide. It is now standard of care to screen all women during pregnancy, both to detect preexisting diabetes as well as gestational diabetes mellitus (GDM). Traditionally, GDM was diagnosed at 24-28 weeks. However, with many international bodies recommending screening at first contact or booking, we are now diagnosing GDM earlier on in pregnancy. Based on the time of gestation at which it is diagnosed, GDM can be classified as conventional gestational diabetes mellitus (cGDM) or early gestational diabetes mellitus (eGDM). The cGDM is diagnosed between 24 and 28 weeks of gestation while eGDM is diagnosed in early pregnancy (<20 weeks). Till recently, there was little and conflicting evidence, on whether diagnosing and treating eGDM was beneficial or safe. The recent Treatment of BOoking Gestational diabetes Mellitus (ToBOGM) study, was a randomized control trial, showing clear benefits of diagnosing and treating eGDM. ToBOGM also showed that the best results were seen in those screened before 14 weeks of pregnancy and those in the higher band of glucose levels (FPG 95-109 mg/dL, 1-hour >191 mg/dL, and 2-hour glucose 162-199 mg/dL). In India, where the burden of hyperglycemia in pregnancy is high, the findings from the ToBOGM study further emphasize the need for screening for GDM at the time of first booking of the pregnancy followed by appropriate treatment for those detected to have eGDM. How to cite this article: Hannah W, Pradeepa R, Anjana RM, et al. Early Gestational Diabetes Mellitus: An Update. J Assoc Physicians India 2023;71(9):101-103.
Topics: Female; Humans; Pregnancy; Blood Glucose; Diabetes, Gestational; Early Diagnosis; Glucose Tolerance Test; India; Clinical Studies as Topic
PubMed: 38700309
DOI: 10.59556/japi.71.0351 -
Nature Reviews. Rheumatology Jun 2024Relapsing polychondritis is a rare inflammatory disease characterized by recurrent inflammation of cartilaginous structures, mainly of the ears, nose and respiratory... (Review)
Review
Relapsing polychondritis is a rare inflammatory disease characterized by recurrent inflammation of cartilaginous structures, mainly of the ears, nose and respiratory tract, with a broad spectrum of accompanying systemic features. Despite its rarity, prompt recognition and accurate diagnosis of relapsing polychondritis is crucial for appropriate management and optimal outcomes. Our understanding of relapsing polychondritis has changed markedly in the past couple of years with the identification of three distinct patient clusters that have different clinical manifestations and prognostic outcomes. With the progress of pangenomic sequencing and the discovery of new somatic and monogenic autoinflammatory diseases, new differential diagnoses have emerged, notably the vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, autoinflammatory diseases and immune checkpoint inhibitor-related adverse events. In this Review, we present a detailed update of the newly identified clusters and highlight red flags that should raise suspicion of these alternative diagnoses. The identification of these different clusters and mimickers has a direct impact on the management, follow-up and prognosis of patients with relapsing polychondritis and autoinflammatory syndromes.
Topics: Polychondritis, Relapsing; Humans; Diagnosis, Differential; Prognosis
PubMed: 38698240
DOI: 10.1038/s41584-024-01113-9 -
Computers in Biology and Medicine Jul 2023In this paper, we proposed a novel approach to diagnose and classify Parkinson's Disease (PD) using ensemble learning and 1D-PDCovNN, a novel deep learning technique. PD...
In this paper, we proposed a novel approach to diagnose and classify Parkinson's Disease (PD) using ensemble learning and 1D-PDCovNN, a novel deep learning technique. PD is a neurodegenerative disorder; early detection and correct classification are essential for better disease management. The primary aim of this study is to develop a robust approach to diagnosing and classifying PD using EEG signals. As the dataset, we have used the San Diego Resting State EEG dataset to evaluate our proposed method. The proposed method mainly consists of three stages. In the first stage, the Independent Component Analysis (ICA) method has been used as the pre-processing method to filter out the blink noises from the EEG signals. Also, the effect of the band showing motor cortex activity in the 7-30 Hz frequency band of EEG signals in diagnosing and classifying Parkinson's disease from EEG signals has been investigated. In the second stage, the Common Spatial Pattern (CSP) method has been used as the feature extraction to extract useful information from EEG signals. Finally, an ensemble learning approach, Dynamic Classifier Selection (DCS) in Modified Local Accuracy (MLA), has been employed in the third stage, consisting of seven different classifiers. As the classifier method, DCS in MLA, XGBoost, and 1D-PDCovNN classifier has been used to classify the EEG signals as the PD and healthy control (HC). We first used dynamic classifier selection to diagnose and classify Parkinson's disease (PD) from EEG signals, and promising results have been obtained. The performance of the proposed approach has been evaluated using the classification accuracy, F-1 score, kappa score, Jaccard score, ROC curve, recall, and precision values in the classification of PD with the proposed models. In the classification of PD, the combination of DCS in MLA achieved an accuracy of 99,31%. The results of this study demonstrate that the proposed approach can be used as a reliable tool for early diagnosis and classification of PD.
Topics: Humans; Electroencephalography; Parkinson Disease; Algorithms; Support Vector Machine; Cerebral Cortex
PubMed: 37211002
DOI: 10.1016/j.compbiomed.2023.107031 -
Current Opinion in Pediatrics Dec 2023Severe combined immune deficiency (SCID) is the most devastating genetic disease of the immune system with an unfavorable outcome unless diagnosed early in life. Newborn... (Review)
Review
PURPOSE OF REVIEW
Severe combined immune deficiency (SCID) is the most devastating genetic disease of the immune system with an unfavorable outcome unless diagnosed early in life. Newborn screening (NBS) programs play a crucial role in facilitating early diagnoses and timely interventions for affected infants.
RECENT FINDINGS
SCID marked the pioneering inborn error of immunity (IEI) to undergo NBS, a milestone achieved 15 years ago through the enumeration of T-cell receptor excision circles (TRECs) extracted from Guthrie cards. This breakthrough has revolutionized our approach to SCID, enabling not only presymptomatic identification and prompt treatments (including hematopoietic stem cell transplantation), but also enhancing our comprehension of the global epidemiology of SCID.
SUMMARY
NBS is continuing to evolve with the advent of novel diagnostic technologies and treatments. Following the successful implementation of SCID-NBS programs, a call for the early identification of additional IEIs is the next step, encompassing a broader spectrum of IEIs, facilitating early diagnoses, and preventing morbidity and mortality.
Topics: Humans; Infant, Newborn; DNA; Early Diagnosis; Hematopoietic Stem Cell Transplantation; Neonatal Screening; Receptors, Antigen, T-Cell; Severe Combined Immunodeficiency
PubMed: 37707504
DOI: 10.1097/MOP.0000000000001291 -
Journal of Attention Disorders Oct 2023To identify and analyze all studies validating rating scales or interview-based screeners commonly used to evaluate ADHD in adults. (Review)
Review
OBJECTIVE
To identify and analyze all studies validating rating scales or interview-based screeners commonly used to evaluate ADHD in adults.
METHOD
A systematic literature search identified all studies providing diagnostic accuracy statistics, including sensitivity and specificity, supplemented by relevant articles or test manuals referenced in reviewed manuscripts.
RESULTS
Only 20 published studies or manuals provided data regarding sensitivity and specificity when tasked with differentiating those with and without ADHD. While all screening measures have excellent ability to correctly classify non-ADHD individuals (with negative predictive values exceeding 96%), false positive rates were high. At best, positive predictive values in clinical samples reached 61%, but most fell below 20%.
CONCLUSION
Clinicians cannot rely on scales alone to diagnose ADHD and must undertake more rigorous evaluation of clients who screen positive. Furthermore, relevant classification statistics must be included in publications to help clinicians make statistically defensible decisions. Otherwise, clinicians risk inappropriately diagnosing ADHD.
Topics: Adult; Humans; Attention Deficit Disorder with Hyperactivity; Self Report; Psychiatric Status Rating Scales; Sensitivity and Specificity; Mass Screening
PubMed: 37366274
DOI: 10.1177/10870547231177470