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1.
Radiology ; 311(1): e232133, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38687216

ABSTRACT

Background The performance of publicly available large language models (LLMs) remains unclear for complex clinical tasks. Purpose To evaluate the agreement between human readers and LLMs for Breast Imaging Reporting and Data System (BI-RADS) categories assigned based on breast imaging reports written in three languages and to assess the impact of discordant category assignments on clinical management. Materials and Methods This retrospective study included reports for women who underwent MRI, mammography, and/or US for breast cancer screening or diagnostic purposes at three referral centers. Reports with findings categorized as BI-RADS 1-5 and written in Italian, English, or Dutch were collected between January 2000 and October 2023. Board-certified breast radiologists and the LLMs GPT-3.5 and GPT-4 (OpenAI) and Bard, now called Gemini (Google), assigned BI-RADS categories using only the findings described by the original radiologists. Agreement between human readers and LLMs for BI-RADS categories was assessed using the Gwet agreement coefficient (AC1 value). Frequencies were calculated for changes in BI-RADS category assignments that would affect clinical management (ie, BI-RADS 0 vs BI-RADS 1 or 2 vs BI-RADS 3 vs BI-RADS 4 or 5) and compared using the McNemar test. Results Across 2400 reports, agreement between the original and reviewing radiologists was almost perfect (AC1 = 0.91), while agreement between the original radiologists and GPT-4, GPT-3.5, and Bard was moderate (AC1 = 0.52, 0.48, and 0.42, respectively). Across human readers and LLMs, differences were observed in the frequency of BI-RADS category upgrades or downgrades that would result in changed clinical management (118 of 2400 [4.9%] for human readers, 611 of 2400 [25.5%] for Bard, 573 of 2400 [23.9%] for GPT-3.5, and 435 of 2400 [18.1%] for GPT-4; P < .001) and that would negatively impact clinical management (37 of 2400 [1.5%] for human readers, 435 of 2400 [18.1%] for Bard, 344 of 2400 [14.3%] for GPT-3.5, and 255 of 2400 [10.6%] for GPT-4; P < .001). Conclusion LLMs achieved moderate agreement with human reader-assigned BI-RADS categories across reports written in three languages but also yielded a high percentage of discordant BI-RADS categories that would negatively impact clinical management. © RSNA, 2024 Supplemental material is available for this article.


Subject(s)
Breast Neoplasms , Adult , Aged , Female , Humans , Middle Aged , Breast/diagnostic imaging , Breast Neoplasms/diagnostic imaging , Language , Magnetic Resonance Imaging/methods , Mammography/methods , Radiology Information Systems/statistics & numerical data , Retrospective Studies , Ultrasonography, Mammary/methods
2.
Liver Int ; 44(7): 1610-1623, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38517208

ABSTRACT

BACKGROUND: Extracellular vesicles (EVs) modulate inflammation, coagulation and vascular homeostasis in decompensated cirrhosis. AIM: To characterize the profile of plasmatic EVs in patients with decompensated cirrhosis and bacterial infections and evaluate the association between EVs and the development of hemostatic complications. METHODS: We measured the levels of EVs using high-sensitivity flow cytometry and phospholipid-dependent clotting time (PPL) in a prospective cohort of hospitalized patients with acutely decompensated cirrhosis with versus without bacterial infections. A separate cohort of patients with bacterial infections without cirrhosis was also enrolled. We measured endothelium-, tissue factor (TF)-bearing, platelet- and leukocyte-derived EVs. In patients with infections, EVs were reassessed upon resolution of infection. Bleeding and thrombotic complications were recorded during 1-year follow-up. RESULTS: Eighty patients with decompensated cirrhosis were recruited (40 each with and without bacterial infections). Electron microscopy confirmed the presence of plasma EVs. Despite no difference in total EVs and PPL, patients with cirrhosis and infection had significantly higher TF+ EVs, P-Selectin+ EVs (activated platelet-derived), CD14+ EVs (monocyte/macrophages derived) and CD14+ TF+ EVs versus those with cirrhosis without infection. Upon infection resolution, levels of these EVs returned to those without infection. Patients with infections showed a significant association between reduced P-Selectin+ EVs and bleeding complications (HR 8.0 [95%CI 1.3-48.1]), whereas high levels of leukocyte-derived EVs (CD45+) and CD14+ EVs were significantly associated with thrombotic complications (HR 16.4 [95%CI 1.7-160] and 10.9 [95%CI 1.13-106], respectively). Results were confirmed in a validation cohort. CONCLUSION: Bacterial infections are associated with particular alterations of plasma EVs profile in decompensated cirrhosis. Bacterial infections trigger the release of EVs originating from various cell types, which may tip the precarious hemostatic balance of patients with acutely decompensated cirrhosis towards hyper- or hypocoagulability.


Subject(s)
Bacterial Infections , Extracellular Vesicles , Liver Cirrhosis , Humans , Liver Cirrhosis/blood , Liver Cirrhosis/complications , Male , Extracellular Vesicles/metabolism , Female , Bacterial Infections/blood , Middle Aged , Prospective Studies , Aged , Thromboplastin/metabolism , Thromboplastin/analysis , Flow Cytometry , Blood Platelets/metabolism , Thrombosis/blood , Blood Coagulation , P-Selectin/blood
3.
Br J Sports Med ; 58(5): 255-260, 2024 Mar 08.
Article in English | MEDLINE | ID: mdl-38233088

ABSTRACT

OBJECTIVE: Evidence on the increased risk of sports-related sudden cardiac arrest and death (SCA/D) and the potential benefit of cardiovascular preparticipation screening (PPS) in children is limited. We assessed the burden and circumstances of SCA/D and the diagnostic yield of cardiovascular PPS in children aged 8-15 years. METHODS: Data on the incidence and causes of SCA/D from 2011 to 2020 were obtained from the Veneto region (Italy) sudden death registry, hospital records and local press. During the same period, we assessed the results of annual PPS in 25 251 young competitive athletes aged 8-15 years who underwent 58 185 evaluations (mean 2.3/athlete) in Padua, Italy. RESULTS: Over 10 years, 26 SCA/D occurred in children aged 8-15 years in the Veneto region: 6 in athletes (incidence 0.7/100 000/year, all ≥12 years) versus 20 in non-athletes (0.7/100 000/year, 17/20 ≥12 years). In total, 4/6 athletes versus 1/20 non-athletes survived. The cause of SCA/D remained unexplained in four athletes and in nine non-athletes. No athlete suffered SCA/D from structural diseases potentially identifiable by PPS. The incidence of SCA/D in athletes and non-athletes was 0.2/100 000/year in the 8-11 years group versus 1.3/100 000/year in the 12-15 years group. PPS identified 26 new diagnoses of cardiovascular diseases (CVDs) at risk of SCA/D, more often in children ≥12 years old (0.06%/evaluation) than <12 years old (0.02%/evaluation, p=0.02). Among athletes with a negative PPS, two suffered unexplained SCA/D during follow-up, one during exercise. CONCLUSIONS: In children aged 8-15 years, the incidence of SCA/D and the yield of PPS for identifying at-risk CVD were both substantially higher in those ≥12 years, suggesting that systematic PPS may be more useful beyond this age.


Subject(s)
Cardiovascular System , Sports , Child , Humans , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/prevention & control , Death, Sudden, Cardiac/etiology , Athletes , Mass Screening
4.
Radiol Med ; 129(3): 429-438, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38341817

ABSTRACT

PURPOSES: The primary objective of this retrospective study was to assess whether the CT dose delivered to oncologic patients was different in a subspecialty radiology department, compared to a general radiology department. The secondary explorative objective was to assess whether the objective image quality of CT examinations was different in the two settings. MATERIALS AND METHODS: Chest and abdomen CT scans performed for oncologic indications were selected from a general radiology department and a subspecialty radiology department. By using a radiation dose management platform, we extracted and compared CT dose index (CTDIvol) and dose length product (DLP) both for each phase and for the entire CT exams. For objective image quality evaluation, we calculated the signal-to-noise ratio (SNR) and the contrast-to-noise ratio (CNR) at the level of the liver and of the aorta. A P-value < 0.05 was considered significant. RESULTS: A total of 7098 CT examinations were included. CTDIvol was evaluated in 12,804 phases; DLP in 10,713 phases and in 6714 examinations. The CTDIvol and DLP overall were significantly lower in the subspecialty radiology department compared to the general radiology department CTDI median (IQR) 5.19 (3.91-7.00) and 5.51 (4.17-7.72), DLP median and IQR of 490.0 (342.4-710.6) and 503.4 (359.9-728.8), p < 0.001 and p = 0.01, respectively. The objective image quality showed no significant difference in the general and subspecialty radiology departments, with median and IQR of 4.03 (2.82-5.51) and 3.84 (3.09-4.94) for SNRLiv (p = 0.58); 4.81 (2.70-7.62) and 4.34 (3.05-6.25) for SNRAo (p = 0.30); 0.83 (0.20-1.89) and 1.00 (0.35-1.57) for CNRLiv (p = 0.99); 2.23 (0.09-3.83) and 1.01 (0.15-2.84) for CNRAo (p = 0.24) with SNRLiv (p = 0.58), SNRAo (p = 0.30), CNRLiv (p = 0.99) and CNRAo (p = 0.24). CONCLUSION: In a subspecialty radiology department, CT protocols are optimized compared to a general radiology department leading to lower doses to oncologic patients without significant objective image quality degradation.


Subject(s)
Radiation Exposure , Radiology , Humans , Retrospective Studies , Radiation Dosage , Tomography, X-Ray Computed/methods
5.
Radiol Med ; 129(7): 1062-1075, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38730037

ABSTRACT

PURPOSE: To evaluate the diagnostic accuracy of the Node-RADS score and the utility of apparent diffusion coefficient (ADC) values in predicting metastatic lymph nodes (LNs) involvement in cervical cancer (CC) patients using magnetic resonance imaging (MRI). The applicability of the Node RADS score across three readers with different years of experience in pelvic imaging was also assessed. MATERIAL AND METHODS: Among 140 patients, 68 underwent staging MRI, neoadjuvant chemotherapy and radical surgery, forming the study cohort. Node-RADS scores of the main pelvic stations were retrospectively determined to assess LN metastatic likelihood and compared with the histological findings. Mean ADC, relative ADC (rADC), and correct ADC (cADC) values of LNs classified as Node-RADS ≥ 3 were measured and compared with histological reports, considered as gold standard. RESULTS: Sensitivity, specificity, positive and negative predictive values (PPVs and NPVs), and accuracy were calculated for different Node-RADS thresholds. Node RADS ≥ 3 showed a sensitivity of 92.8% and specificity of 72.5%. Node RADS ≥ 4 yielded a sensitivity of 71.4% and specificity of 100%, while Node RADS 5 yielded 42.9% and 100%, respectively. The diagnostic performance of mean ADC, cADC and rADC values from 78 LNs with Node-RADS score ≥ 3 was assessed, with ADC demonstrating the highest area under the curve (AUC 0.820), compared to cADC and rADC values. CONCLUSION: The Node-RADS score provides a standardized LNs assessment, enhancing diagnostic accuracy in CC patients. Its ease of use and high inter-observer concordance support its clinical utility. ADC measurement of LNs shows promise as an additional tool for optimizing patient diagnostic evaluation.


Subject(s)
Diffusion Magnetic Resonance Imaging , Lymphatic Metastasis , Neoplasm Staging , Sensitivity and Specificity , Uterine Cervical Neoplasms , Humans , Female , Middle Aged , Uterine Cervical Neoplasms/diagnostic imaging , Uterine Cervical Neoplasms/pathology , Retrospective Studies , Diffusion Magnetic Resonance Imaging/methods , Lymphatic Metastasis/diagnostic imaging , Adult , Aged , Lymph Nodes/diagnostic imaging , Lymph Nodes/pathology , Predictive Value of Tests
6.
Int J Mol Sci ; 25(11)2024 Jun 06.
Article in English | MEDLINE | ID: mdl-38892455

ABSTRACT

Arrhythmogenic cardiomyopathy (ACM) is an inherited myocardial disease at risk of sudden death. Genetic testing impacts greatly in ACM diagnosis, but gene-disease associations have yet to be determined for the increasing number of genes included in clinical panels. Genetic variants evaluation was undertaken for the most relevant non-desmosomal disease genes. We retrospectively studied 320 unrelated Italian ACM patients, including 243 cases with predominant right-ventricular (ARVC) and 77 cases with predominant left-ventricular (ALVC) involvement, who did not carry pathogenic/likely pathogenic (P/LP) variants in desmosome-coding genes. The aim was to assess rare genetic variants in transmembrane protein 43 (TMEM43), desmin (DES), phospholamban (PLN), filamin c (FLNC), cadherin 2 (CDH2), and tight junction protein 1 (TJP1), based on current adjudication guidelines and reappraisal on reported literature data. Thirty-five rare genetic variants, including 23 (64%) P/LP, were identified in 39 patients (16/243 ARVC; 23/77 ALVC): 22 FLNC, 9 DES, 2 TMEM43, and 2 CDH2. No P/LP variants were found in PLN and TJP1 genes. Gene-based burden analysis, including P/LP variants reported in literature, showed significant enrichment for TMEM43 (3.79-fold), DES (10.31-fold), PLN (117.8-fold) and FLNC (107-fold). A non-desmosomal rare genetic variant is found in a minority of ARVC patients but in about one third of ALVC patients; as such, clinical decision-making should be driven by genes with robust evidence. More than two thirds of non-desmosomal P/LP variants occur in FLNC.


Subject(s)
Arrhythmogenic Right Ventricular Dysplasia , Humans , Arrhythmogenic Right Ventricular Dysplasia/genetics , Female , Male , Adult , Middle Aged , Membrane Proteins/genetics , Cadherins/genetics , Desmosomes/genetics , Desmosomes/metabolism , Genetic Predisposition to Disease , Genetic Variation , Filamins/genetics , Retrospective Studies , Italy , Calcium-Binding Proteins/genetics , Antigens, CD/genetics
7.
Pathologica ; 116(2): 78-92, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38767541

ABSTRACT

Vasculitides are diseases that can affect any vessel. When cardiac or aortic involvement is present, the prognosis can worsen significantly. Pathological assessment often plays a key role in reaching a definite diagnosis of cardiac or aortic vasculitis, particularly when the clinical evidence of a systemic inflammatory disease is missing. The following review will focus on the main histopathological findings of cardiac and aortic vasculitides.


Subject(s)
Vasculitis , Humans , Vasculitis/pathology , Vasculitis/diagnosis , Prognosis , Aorta/pathology
8.
Circulation ; 146(25): 1930-1945, 2022 12 20.
Article in English | MEDLINE | ID: mdl-36417924

ABSTRACT

BACKGROUND: Autoimmunity is increasingly recognized as a key contributing factor in heart muscle diseases. The functional features of cardiac autoimmunity in humans remain undefined because of the challenge of studying immune responses in situ. We previously described a subset of c-mesenchymal epithelial transition factor (c-Met)-expressing (c-Met+) memory T lymphocytes that preferentially migrate to cardiac tissue in mice and humans. METHODS: In-depth phenotyping of peripheral blood T cells, including c-Met+ T cells, was undertaken in groups of patients with inflammatory and noninflammatory cardiomyopathies, patients with noncardiac autoimmunity, and healthy controls. Validation studies were carried out using human cardiac tissue and in an experimental model of cardiac inflammation. RESULTS: We show that c-Met+ T cells are selectively increased in the circulation and in the myocardium of patients with inflammatory cardiomyopathies. The phenotype and function of c-Met+ T cells are distinct from those of c-Met-negative (c-Met-) T cells, including preferential proliferation to cardiac myosin and coproduction of multiple cytokines (interleukin-4, interleukin-17, and interleukin-22). Furthermore, circulating c-Met+ T cell subpopulations in different heart muscle diseases identify distinct and overlapping mechanisms of heart inflammation. In experimental autoimmune myocarditis, elevations in autoantigen-specific c-Met+ T cells in peripheral blood mark the loss of immune tolerance to the heart. Disease development can be halted by pharmacologic c-Met inhibition, indicating a causative role for c-Met+ T cells. CONCLUSIONS: Our study demonstrates that the detection of circulating c-Met+ T cells may have use in the diagnosis and monitoring of adaptive cardiac inflammation and definition of new targets for therapeutic intervention when cardiac autoimmunity causes or contributes to progressive cardiac injury.


Subject(s)
Autoimmune Diseases , Cardiomyopathies , Myocarditis , Humans , Mice , Animals , Autoimmunity , Memory T Cells , Myocarditis/etiology , Myocardium , Cardiomyopathies/complications , Cardiac Myosins , Inflammation/complications
9.
Circulation ; 145(15): 1123-1139, 2022 04 12.
Article in English | MEDLINE | ID: mdl-35404682

ABSTRACT

BACKGROUND: Acute myocarditis (AM) is thought to be a rare cardiovascular complication of COVID-19, although minimal data are available beyond case reports. We aim to report the prevalence, baseline characteristics, in-hospital management, and outcomes for patients with COVID-19-associated AM on the basis of a retrospective cohort from 23 hospitals in the United States and Europe. METHODS: A total of 112 patients with suspected AM from 56 963 hospitalized patients with COVID-19 were evaluated between February 1, 2020, and April 30, 2021. Inclusion criteria were hospitalization for COVID-19 and a diagnosis of AM on the basis of endomyocardial biopsy or increased troponin level plus typical signs of AM on cardiac magnetic resonance imaging. We identified 97 patients with possible AM, and among them, 54 patients with definite/probable AM supported by endomyocardial biopsy in 17 (31.5%) patients or magnetic resonance imaging in 50 (92.6%). We analyzed patient characteristics, treatments, and outcomes among all COVID-19-associated AM. RESULTS: AM prevalence among hospitalized patients with COVID-19 was 2.4 per 1000 hospitalizations considering definite/probable and 4.1 per 1000 considering also possible AM. The median age of definite/probable cases was 38 years, and 38.9% were female. On admission, chest pain and dyspnea were the most frequent symptoms (55.5% and 53.7%, respectively). Thirty-one cases (57.4%) occurred in the absence of COVID-19-associated pneumonia. Twenty-one (38.9%) had a fulminant presentation requiring inotropic support or temporary mechanical circulatory support. The composite of in-hospital mortality or temporary mechanical circulatory support occurred in 20.4%. At 120 days, estimated mortality was 6.6%, 15.1% in patients with associated pneumonia versus 0% in patients without pneumonia (P=0.044). During hospitalization, left ventricular ejection fraction, assessed by echocardiography, improved from a median of 40% on admission to 55% at discharge (n=47; P<0.0001) similarly in patients with or without pneumonia. Corticosteroids were frequently administered (55.5%). CONCLUSIONS: AM occurrence is estimated between 2.4 and 4.1 out of 1000 patients hospitalized for COVID-19. The majority of AM occurs in the absence of pneumonia and is often complicated by hemodynamic instability. AM is a rare complication in patients hospitalized for COVID-19, with an outcome that differs on the basis of the presence of concomitant pneumonia.


Subject(s)
COVID-19 , Myocarditis , Adult , COVID-19/complications , COVID-19/epidemiology , COVID-19/therapy , Female , Humans , Male , Myocarditis/diagnosis , Myocarditis/epidemiology , Myocarditis/therapy , Prevalence , Retrospective Studies , SARS-CoV-2 , Stroke Volume , Ventricular Function, Left
10.
Lab Invest ; 103(9): 100196, 2023 09.
Article in English | MEDLINE | ID: mdl-37302528

ABSTRACT

Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease at risk of sudden cardiac death and heart failure, even requiring heart transplantation. A "muscular mitral-aortic discontinuity" has been reported during surgery in the obstructive form. We aimed to validate these findings through pathological analysis of HCM heart specimens from the cardiovascular pathology tissue registry. Hearts with septal asymmetric HCM from sudden cardiac death, other causes of death, or heart transplantation were included. Sex-matched and age-matched patients without HCM served as controls. Gross and histologic analysis of the mitral valve (MV) apparatus and the mitral-aortic continuity were performed. Thirty HCM hearts (median age, 29.5 years; 15 men) and 30 controls (median age, 30.5 years; 15 men) were studied. In HCM hearts, a septal bulging was present in 80%, an endocardial fibrous plaque in 63%, a thickening of the anterior MV leaflet in 56.7%, and an anomalous insertion of papillary muscle in 10%. All cases but 1 (97%) revealed a myocardial layer overlapping the mitral-aortic fibrous continuity on the posterior side, corresponding to the left atrial myocardium. A negative correlation between the length of this myocardial layer and the age and the anterior MV leaflet length was found. The length did not differ between HCM and controls. Pathologic study of obstructive HCM hearts does not confirm the existence of a "muscular mitral-aortic discontinuity". An extension of left atrial myocardium, overlapping posteriorly the intervalvular fibrosa, is rather visible, and its length decreases with age, possibly as a consequence of left atrial remodeling. Our study highlights the fundamental role of thorough gross examination and the value of organ retention for further analysis in order to validate new surgical and imaging findings.


Subject(s)
Atrial Fibrillation , Cardiomyopathy, Hypertrophic , Male , Humans , Adult , Cardiomyopathy, Hypertrophic/diagnostic imaging , Cardiomyopathy, Hypertrophic/pathology , Myocardium/pathology , Mitral Valve/diagnostic imaging , Mitral Valve/pathology , Fibrosis , Death, Sudden, Cardiac/pathology
11.
Radiology ; 307(1): e220795, 2023 04.
Article in English | MEDLINE | ID: mdl-36413127

ABSTRACT

Background US-indeterminate adnexal lesions remain an important indication for gynecologic surgery. MRI can serve as a problem-solving tool through the use of the Ovarian-Adnexal Imaging Reporting and Data System (O-RADS) MRI lexicon, which is based on the ADNEX MR scoring system. Purpose To perform a systematic review and meta-analysis of the diagnostic performance of pelvic MRI interpreted using the ADNEX or O-RADS MRI stratification systems to characterize US-indeterminate adnexal lesions and of the category-wise malignancy rates. Materials and Methods A systematic literature search from May 2013 (publication of the ADNEX MR score) to September 2022 was performed. Studies reporting the use of pelvic MRI interpreted with the ADNEX or O-RADS MRI systems to characterize US-indeterminate adnexal lesions, with pathologic examination and/or follow-up as the reference standard, were included. Summary estimates of diagnostic performance were obtained with the bivariate random-effects model, while category-wise summary malignancy rates of O-RADS MRI 2, 3, 4, and 5 lesions were obtained with a random-effects model. Effects of covariates on heterogeneity and diagnostic performance were investigated through meta-regression. Results Thirteen study parts from 12 studies (3731 women, 4520 adnexal lesions) met the inclusion criteria. Diagnostic performance meta-analysis for 4012 lesions found a 92% summary sensitivity (95% CI: 88, 95) and a 91% summary specificity (95% CI: 89, 93). The meta-analysis of malignancy rates for 3641 lesions showed summary malignancy rates of 0.1% (95% CI: 0, 1) among O-RADS MRI 2 lesions, 6% (95% CI: 3, 9) among O-RADS MRI 3 lesions, 60% (95% CI: 52, 67) among O-RADS MRI 4 lesions, and 96% (95% CI: 92, 99) among O-RADS MRI 5 lesions. Conclusion Pelvic MRI interpreted with the Ovarian-Adnexal Reporting and Data System (O-RADS) MRI lexicon had high diagnostic performance for the characterization of US-indeterminate adnexal lesions. Summary estimates of malignancy rates in the O-RADS MRI 4 and O-RADS MRI 5 categories were higher than predicted ones. © RSNA, 2022 Supplemental material is available for this article. See also the editorial by Lee and Kang in this issue.


Subject(s)
Adnexal Diseases , Ovarian Neoplasms , Female , Humans , Adnexal Diseases/pathology , Adnexa Uteri/diagnostic imaging , Ovarian Neoplasms/pathology , Magnetic Resonance Imaging/methods , Ultrasonography/methods , Sensitivity and Specificity , Retrospective Studies
12.
J Peripher Nerv Syst ; 28(2): 262-265, 2023 06.
Article in English | MEDLINE | ID: mdl-36859783

ABSTRACT

AIM: Neuropathy is a frequent complication of Waldenström's macroglobulinemia (WM), the most common being a demyelinating polyneuropathy with anti-myelin associated glycoprotein (MAG) antibodies, but also cryoglobulins, vasculitis, neurolymphomatosis, and amyloidosis. We describe a patient with IgM/kappa WM who presented with a severe, not length-dependent, peripheral neuropathy as clinical onset of IgM/kappa-related amyloidosis. METHODS: A 69-year-old woman came to our attention for weight loss, gait imbalance and sensory loss at upper limbs. In her medical history, she was in hematological follow-up for WM, and had undergone left carpal tunnel release. At neurological evaluation she had weakness and loss of sensation at upper limbs up to the elbows, more at the left side, gait was unsteady with right foot drop. Hypotrophy and areflexia were present at four limbs. Sensory loss and vibration sense were dramatically reduced. She underwent extensive diagnostic workup. RESULTS: Laboratory workup revealed an IgM/kappa monoclonal paraprotein of 16 g/L and increased NT-proBNP; anti-MAG antibodies were absent. Bone marrow biopsy demonstrated a population of neoplastic B-lymphocytes. Total-body CT scan and echocardiogram were negative. Neurophysiology revealed a symmetric, no length dependent sensory-motor polyneuropathy Periumbilical fat biopsy was positive for amyloid. Sural nerve biopsy detected amyloid in the wall of an epineurial vein. CONCLUSIONS: This case report describes a rare and unusual manifestation of IgM-related AL amyloidosis in WM. The patient presented with a subacute clinically asymmetric neuropathy with no pain or dysautonomic features as clinical onset of IgM/kappa-related amyloidosis. Sural nerve biopsy was crucial for the diagnosis.


Subject(s)
Amyloidosis , Peripheral Nervous System Diseases , Polyneuropathies , Waldenstrom Macroglobulinemia , Humans , Female , Aged , Peripheral Nervous System Diseases/etiology , Peripheral Nervous System Diseases/complications , Peripheral Nerves , Antibodies, Monoclonal , Polyneuropathies/diagnosis , Amyloidosis/complications , Waldenstrom Macroglobulinemia/complications , Waldenstrom Macroglobulinemia/diagnosis , Immunoglobulin M , Paraproteins , Autoantibodies , Amyloid
13.
Eur Heart J Suppl ; 25(Suppl B): B16-B20, 2023 Apr.
Article in English | MEDLINE | ID: mdl-37091646

ABSTRACT

Sudden cardiac death (SCD) pathophysiological point of view can be either mechanical or electrical. In case of mechanical SCD, the most frequent causes are pulmonary thromboembolism and cardiac tamponade due to intrapericardial rupture (aortic dissection, heart rupture). This distinction is important because cardiac arrest retains survival potential through cardiopulmonary resuscitation and defibrillators only if the rhythm is shockable. The heart diseases that can cause SCD vary according to the age of the individual. In young people, primary electrical diseases ('ion channel diseases') and cardiomyopathies (particularly hypertrophic and arrhythmogenic), both genetically determined and therefore potentially recurred in the proband's family, as well as myocarditis and coronary anomalies prevail; in adult-elderly populations, coronary atherosclerosis with its complications and degenerative valve diseases (aortic stenosis and mitral valve prolapse) predominate. In this short text, the main structural heart diseases characterized by electrical instability at risk of SCD will be recalled, with a focus on coronary, myocardial, and valvular diseases.

14.
Eur Heart J Suppl ; 25(Suppl C): C144-C154, 2023 May.
Article in English | MEDLINE | ID: mdl-37125320

ABSTRACT

The designation of 'arrhythmogenic cardiomyopathy' reflects the evolving concept of a heart muscle disease affecting not only the right ventricle (ARVC) but also the left ventricle (LV), with phenotypic variants characterized by a biventricular (BIV) or predominant LV involvement (ALVC). Herein, we use the term 'scarring/arrhythmogenic cardiomyopathy (S/ACM)' to emphasize that the disease phenotype is distinctively characterized by loss of ventricular myocardium due to myocyte death with subsequent fibrous or fibro-fatty scar tissue replacement. The myocardial scarring predisposes to potentially lethal ventricular arrhythmias and underlies the impairment of systolic ventricular function. S/ACM is an 'umbrella term' which includes a variety of conditions, either genetic or acquired (mostly post-inflammatory), sharing the typical 'scarring' phenotypic features of the disease. Differential diagnoses include 'non-scarring' heart diseases leading to either RV dilatation from left-to-right shunt or LV dilatation/dysfunction from a dilated cardiomyopathy. The development of 2020 upgraded criteria ('Padua criteria') for diagnosis of S/ACM reflected the evolving clinical experience with the expanding spectrum of S/ACM phenotypes and the advances in cardiac magnetic resonance (CMR) imaging. The Padua criteria aimed to improve the diagnosis of S/ACM by incorporation of CMR myocardial tissue characterization findings. Risk stratification of S/ACM patients is mostly based on arrhythmic burden and ventricular dysfunction severity, although other ECG or imaging parameters may have a role. Medical therapy is crucial for treatment of ventricular arrhythmias and heart failure. Implantable cardioverter defibrillator (ICD) is the only proven life-saving treatment, despite its significant morbidity because of device-related complications and inappropriate shocks. Selection of patients who can benefit the most from ICD therapy is one of the most challenging issues in clinical practice.

15.
Radiol Med ; 128(10): 1217-1224, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37626156

ABSTRACT

PURPOSE: To assess the incidence of axillary lymphadenopathy over established time ranges after COVID-19 vaccination and lymph node pathologic features (i.e. size increase and qualitative characteristics) in subjects undergoing axillary evaluation during a breast imaging examination. METHODS AND MATERIALS: The institutional review board approved this prospective study. INCLUSION CRITERIA: women undergoing mammography and breast ultrasound between July and October 2021; information about the COVID-19 vaccine and infection, if any. EXCLUSION CRITERIA: known metastatic lymphadenopathy. Participants were divided into 5 subgroups according to time between vaccine and imaging: < 6 weeks; 7-8 weeks; 9-10 weeks; 11-12 weeks; > 12 weeks. Evaluation of axillary lymph nodes was performed with ultrasound. Descriptive statistical analysis was performed. p < 0.05 was considered significant. RESULTS: A total of 285 women were included. Most of the patients underwent Moderna vaccine (n = 175, 61.4%). 63/285 patients had a previous history of breast cancer (22.1%). 13/17 (76.5%) patients with previous COVID-19 infection had no previous history of cancer, whereas 4/17 had a previous history of cancer (p < .001). 41/285 (14.4%) women showed lymphadenopathy, and they were significantly younger (46.9 ± 11.6 years) than women with borderline (54.0 ± 11.9 years) or no lymphadenopathy (57.3 ± 11.9 years) (p < .001). Lymphadenopathy and borderline lymphadenopathy were more frequently observed in the Moderna-vaccinated women and in the subgroup of patients evaluated < 6 weeks after vaccination (p < 0.001). The most common pathologic feature was cortical thickening, followed by complete or partial effacement of fatty hilum. CONCLUSION: A lymphadenopathy within 12 weeks after vaccination is a common finding particularly in younger women and after Moderna vaccine and no further assessment should be required.

16.
Radiol Med ; 128(7): 853-868, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37311925

ABSTRACT

PURPOSE: The aim of our study is to propose a diagnostic algorithm to guide MRI findings interpretation and malignancy risk stratification of uterine mesenchymal masses with a multiparametric step-by-step approach. METHODS: A non-interventional retrospective multicenter study was performed: Preoperative MRI of 54 uterine masses was retrospectively evaluated. Firstly, the performance of MRI with monoparametric and multiparametric approach was assessed. Reference standard for final diagnosis was surgical pathologic result (n = 53 patients) or at least 1-year MR imaging follow-up (n = 1 patient). Subsequently, a diagnostic algorithm was developed for MR interpretation, resulting in a Likert score from 1 to 5 predicting risk of malignancy of the uterine lesion. The accuracy and reproducibility of the MRI scoring system were then tested: 26 preoperative pelvic MRI were double-blind evaluated by a senior (SR) and junior radiologist (JR). Diagnostic performances and the agreement between the two readers with and without the application of the proposed algorithm were compared, using histological results as standard reference. RESULTS: Multiparametric approach showed the best diagnostic performance in terms of accuracy (94.44%,) and specificity (97.56%). DWI was confirmed as the most sensible parameter with a relative high specificity: low ADC values (mean 0.66) significantly correlated to uterine sarcomas diagnosis (p < 0.01). Proposed algorithm allowed to improve both JR and SR performance (algorithm-aided accuracy 88.46% and 96%, respectively) and determined a significant increase in inter-observer agreement, helping even the less-experienced radiologist in this difficult differential diagnosis. CONCLUSIONS: Uterine leiomyomas and sarcomas often show an overlap of clinical and imaging features. The application of a diagnostic algorithm can help radiologists to standardize their approach to a complex myometrial mass and to easily identify suspicious MRI features favoring malignancy.


Subject(s)
Sarcoma , Soft Tissue Neoplasms , Uterine Neoplasms , Female , Humans , Retrospective Studies , Diffusion Magnetic Resonance Imaging/methods , Reproducibility of Results , Sensitivity and Specificity , Magnetic Resonance Imaging/methods , Uterine Neoplasms/diagnostic imaging , Uterine Neoplasms/pathology , Sarcoma/pathology , Diagnosis, Differential , Algorithms
17.
Radiol Med ; 128(5): 565-577, 2023 May.
Article in English | MEDLINE | ID: mdl-37097348

ABSTRACT

PURPOSE: Introduce DWI and quantitative ADC evaluation in O-RADS MRI system and observe how diagnostic performance changes. Assess its validity and reproducibility between readers with different experience in female pelvic imaging. Finally, evaluate any correlation between ADC value and histotype in malignant lesions. MATERIALS AND METHODS: In total, 173 patients with 213 indeterminate adnexal masses (AMs) on ultrasound were subjected to MRI examination, from which 140 patients with 172 AMs were included in the final analysis. Standardised MRI sequences were used, including DWI and DCE sequences. Two readers, blinded to histopathological data, retrospectively classified AMs according to the O-RADS MRI scoring system. A quantitative analysis method was applied by placing a ROI on the ADC maps obtained from single-exponential DWI sequences. AMs considered benign (O-RADS MRI score 2) were excluded from the ADC analysis. RESULTS: Excellent inter-reader agreement was found in the classification of lesions according to the O-RADS MRI score (K = 0.936; 95% CI). Two ROC curves were created to determine the optimal cut-off value for the ADC variable between O-RADS MRI categories 3-4 and 4-5, respectively, 1.411 × 10-3 mm2/sec and 0.849 × 10-3 mm2/sec. Based on these ADC values, 3/45 and 22/62 AMs were upgraded, respectively, to score 4 and 5, while 4/62 AMs were downgraded to score 3. ADC values correlated significantly with the ovarian carcinoma histotype (p value < 0.001). CONCLUSION: Our study demonstrates the prognostic potential of DWI and ADC values in the O-RADS MRI classification for better radiological standardisation and characterisation of AMs.


Subject(s)
Diffusion Magnetic Resonance Imaging , Magnetic Resonance Imaging , Humans , Female , Retrospective Studies , Reproducibility of Results , Sensitivity and Specificity , Magnetic Resonance Imaging/methods , ROC Curve , Diffusion Magnetic Resonance Imaging/methods
18.
Radiol Med ; 128(12): 1497-1507, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37752299

ABSTRACT

PURPOSE: Primary purpose was to assess changes of bone mineral density (BMD) in diffuse large B cell lymphoma (DLBCL) patients treated with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone R-CHOP (like) chemotherapy regimen. Secondary purposes were to assess other body composition features changes and to assess the association of pre-therapy values and their changes over time with survival. MATERIAL AND METHODS: Patients selected underwent R-CHOP(like) regimen for DLBCL, and underwent PET-CT before and after treatment. Main clinical data collected included body mass index, date of last follow-up, date of progression, and date of death. From the low-dose CT images, BMD was assessed at the L1 level; the other body composition values, including muscle and fat distribution, were assessed at the L3 level by using a dedicated software. Descriptive statistics were reported as median and interquartile range, or frequencies and percentages. Statistical comparisons of body composition variables between pre- and post-treatment assessments were performed using the Wilcoxon matched pairs signed rank test. Non-normal distribution of variables was tested with the Shapiro-Wilk test. For qualitative variables, the Fisher exact test was used. Log rank test was used to compare survival between different subgroups of the study population defined by specific body composition cutoffs. The significance level was set at p < 0.05. RESULTS: Eighty-two patients were included. The mean follow-up was 37.5 ± 21.4 months. A significant difference was found in mean BMD before and after R-CHOP(like) treatment (p < 0.0001). The same trend was observed for mean skeletal muscle area (SMA) (p = 0.004) and mean skeletal muscle index (SMI) (p = 0.006). No significant association was demonstrated between body composition variables, PFS and OS. CONCLUSION: R-CHOP(like) treatment in DLBCL patients was associated with significant reduction of BMD, SMA and SMI.


Subject(s)
Lymphoma, Large B-Cell, Diffuse , Positron Emission Tomography Computed Tomography , Humans , Antibodies, Monoclonal, Murine-Derived/adverse effects , Disease-Free Survival , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Rituximab/therapeutic use , Lymphoma, Large B-Cell, Diffuse/diagnostic imaging , Lymphoma, Large B-Cell, Diffuse/drug therapy , Vincristine/therapeutic use , Vincristine/adverse effects , Doxorubicin/therapeutic use , Treatment Outcome
19.
Radiol Med ; 127(4): 360-368, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35247133

ABSTRACT

PURPOSE: The main objective of this study was to assess the presence of pulmonary infiltrates with computed tomography (CT) appearance compatible with infection by coronavirus disease 2019 (COVID-19), in Canton Ticino in the 2 months preceding the first official case. Secondary aims were to compare the classification of infiltrates in the same time frame in 2020 and 2019; to compare the number of chest CT scans in the same period; to search for pathological confirmation of the virus. MATERIALS AND METHODS: Chest CT scans performed between January 1 and February 24 in 2019 and 2020 were collected and classified by COVID-19 Reporting and Data System (CO-RADS). Pathological presence of the virus was searched for when appropriate material was available. RESULTS: The final cohort included 881 patients. Among the CO-RADS 3 and 4 categories, 30 patients had pneumonitis of unknown etiology. Pathological specimens were available in six patients but they were negative for COVID-19. CONCLUSION: Before the first official case of COVID-19 infection, in Canton Ticino there were about 30 cases of pneumonitis of uncertain origin, with CT appearance compatible with infection by COVID-19, but with no confirmation of the disease. The number of chest CT scans in the first two months of 2020 was > 12% compared to 2019.


Subject(s)
COVID-19 , Humans , Lung/diagnostic imaging , Pandemics , Retrospective Studies , Switzerland , Tomography, X-Ray Computed/methods
20.
Circulation ; 142(13): 1249-1260, 2020 09 29.
Article in English | MEDLINE | ID: mdl-32791857

ABSTRACT

BACKGROUND: Electroanatomic voltage mapping (EVM) is a promising modality for guiding endomyocardial biopsies (EMBs). However, few data support its feasibility and safety. We now report the largest cohort of patients undergoing EVM-guided EMBs to show its diagnostic yield and to compare it with a cardiac magnetic resonance (CMR)-guided approach. METHODS: We included 162 consecutive patients undergoing EMB at our institution from 2010 to 2019. EMB was performed in pathological areas identified at EVM and CMR. CMR and EVM sensitivity and specificity regarding the identification of pathological substrates of myocardium were evaluated according to EMB results. RESULTS: Preoperative CMR showed late gadolinium enhancement in 70% of the patients, whereas EVM identified areas of low voltage in 61%. Right (73%), left (19%), or both ventricles (8%) underwent sampling. EVM proved to have sensitivity similar to CMR (74% versus 77%), with specificity being 70% and 47%, respectively. In 12 patients with EMB-proven cardiomyopathy, EVM identified pathological areas that had been undetected at CMR evaluation. Sensitivity of pooled EVM and CMR was as high as 95%. EMB analysis allowed us to reach a new diagnosis, different from the suspected clinical diagnosis, in 39% of patients. The complications rate was low, mostly related to vascular access, with no patients requiring urgent management. CONCLUSIONS: EVM proved to be a promising tool for targeted EMB because of its sensitivity and specificity for identification of myocardial pathological substrates. EVM was demonstrated to have accuracy similar to CMR. EVM and CMR together conferred a positive predictive value of 89% on EMB.


Subject(s)
Contrast Media/administration & dosage , Electrophysiologic Techniques, Cardiac , Gadolinium/administration & dosage , Heart Ventricles , Magnetic Resonance Imaging , Myocardium , Adult , Biopsy , Female , Heart Ventricles/diagnostic imaging , Heart Ventricles/physiopathology , Humans , Male , Middle Aged
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