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Background Scar burden with late gadolinium enhancement (LGE) cardiac MRI (CMR) predicts arrhythmic events in patients with postinfarction in single-center studies. However, LGE analysis requires experienced human observers, is time consuming, and introduces variability. Purpose To test whether postinfarct scar with LGE CMR can be quantified fully automatically by machines and to compare the ability of LGE CMR scar analyzed by humans and machines to predict arrhythmic events. Materials and Methods This study is a retrospective analysis of the multicenter, multivendor CarDiac MagnEtic Resonance for Primary Prevention Implantable CardioVerter DebrillAtor ThErapy (DERIVATE) registry. Patients with chronic heart failure, echocardiographic left ventricular ejection fraction (LVEF) of less than 50%, and LGE CMR were recruited (from January 2015 through December 2020). In the current study, only patients with ischemic cardiomyopathy were included. Quantification of total, dense, and nondense scars was carried out by two experienced readers or a Ternaus network, trained and tested with LGE images of 515 and 246 patients, respectively. Univariable and multivariable Cox analyses were used to assess patient and cardiac characteristics associated with a major adverse cardiac event (MACE). Area under the receiver operating characteristic curve (AUC) was used to compare model performances. Results In 761 patients (mean age, 65 years ± 11, 671 men), 83 MACEs occurred. With use of the testing group, univariable Cox-analysis found New York Heart Association class, left ventricle volume and/or function parameters (by echocardiography or CMR), guideline criterion (LVEF of ≤35% and New York Heart Association class II or III), and LGE scar analyzed by humans or the machine-learning algorithm as predictors of MACE. Machine-based dense or total scar conferred incremental value over the guideline criterion for the association with MACE (AUC: 0.68 vs 0.63, P = .02 and AUC: 0.67 vs 0.63, P = .01, respectively). Modeling with competing risks yielded for dense and total scar (AUC: 0.67 vs 0.61, P = .01 and AUC: 0.66 vs 0.61, P = .005, respectively). Conclusion In this analysis of the multicenter CarDiac MagnEtic Resonance for Primary Prevention Implantable CardioVerter DebrillAtor ThErapy (DERIVATE) registry, fully automatic machine learning-based late gadolinium enhancement analysis reliably quantifies myocardial scar mass and improves the current prediction model that uses guideline-based risk criteria for implantable cardioverter defibrillator implantation. ClinicalTrials.gov registration no.: NCT03352648 Published under a CC BY 4.0 license. Supplemental material is available for this article. ispartof: Radiology vol:307 issue:3 pages:e222239- ispartof: location:United States status: published

While chest radiograph (CXR) is the first-line imaging investigation in patients with respiratory symptoms, differentiating COVID-19 from other respiratory infections on CXR remains challenging. We developed and validated an AI system for COVID-19 detection on presenting CXR.A deep learning model (RadGenX), trained on 168,850 CXRs, was validated on a large international test set of presenting CXRs of symptomatic patients from 9 study sites (US, Italy, and Hong Kong SAR) and 2 public datasets from the US and Europe. Performance was measured by area under the receiver operator characteristic curve (AUC). Bootstrapped simulations were performed to assess performance across a range of potential COVID-19 disease prevalence values (3.33 to 33.3%). Comparison against international radiologists was performed on an independent test set of 852 cases.RadGenX achieved an AUC of 0.89 on 4-fold cross-validation and an AUC of 0.79 (95%CI 0.78-0.80) on an independent test cohort of 5,894 patients. Delong's test showed statistical differences in model performance across patients from different regions (p0.01), disease severity (p0.001), gender (p0.001), and age (p = 0.03). Prevalence simulations showed the negative predictive value increases from 86.1% at 33.3% prevalence, to greater than 98.5% at any prevalence below 4.5%. Compared with radiologists, McNemar's test showed the model has higher sensitivity (p0.001) but lower specificity (p0.001).An AI model that predicts COVID-19 infection on CXR in symptomatic patients was validated on a large international cohort providing valuable context on testing and performance expectations for AI systems that perform COVID-19 prediction on CXR.• An AI model developed using CXRs to detect COVID-19 was validated in a large multi-center cohort of 5,894 patients from 9 prospectively recruited sites and 2 public datasets. • Differences in AI model performance were seen across region, disease severity, gender, and age. • Prevalence simulations on the international test set demonstrate the model's NPV is greater than 98.5% at any prevalence below 4.5%.

Pulmonary involvement in Sjogren syndrome (SS) could manifest as cystic lung disease (CLD). CLD in SS includes lymphocytic interstitial pneumonia (LIP) and pulmonary amyloidosis. Differential diagnosis usually requires surgical lung biopsy, whereas CT-guided percutaneous fine needle aspiration biopsy (CT-FNAB) has not yet explored. We describe the case of a 63-year-old never smoker Caucasian female with a SS diagnosis who displayed a newly detected diffuse CLD at high-resolution computed tomography, though totally asymptomatic. Given the favorable location of one big lesion at the superior left lobe, a CT-FNAB was proposed instead of a more invasive SLB. At histology examination a diagnosis of pulmonary nodular AL kappa amyloidosis in the context of SS was established. In conclusion, CT-FNAB might represent an alternative and less invasive diagnostic procedure than SLB in the differential diagnosis of CLD, even if further research is needed. Moreover, this case presents an unusual association between SS and pulmonary nodular AL kappa amyloidosis, with pulmonary nodules and cysts without systemic manifestations.

Objective To analyze the most frequent radiographic features of COVID-19 pneumonia and assess the effectiveness of chest X-ray (CXR) in detecting pulmonary alterations. Materials and methods CXR of 240 symptomatic patients (70% male, mean age 65 ± 16 years), with SARS-CoV-2 infection confirmed by RT-PCR, was retrospectively evaluated. Patients were clustered in four groups based on the number of days between symptom onset and CXR: group A (0–2 days), 49 patients; group B (3–5), 75 patients; group C (6–9), 85 patients; and group D (> 9), 31 patients. Alteration’s type (reticular/ground-glass opacity (GGO)/consolidation) and distribution (bilateral/unilateral, upper/middle/lower fields, peripheral/central) were noted. Statistical significance was tested using chi-square test. Results Among 240 patients who underwent CXR, 180 (75%) showed alterations (group A, 63.3%; group B, 72%; group C, 81.2%; group D, 83.9%). GGO was observed in 124/180 patients (68.8%), reticular alteration in 113/180 (62.7%), and consolidation in 71/180 (39.4%). Consolidation was significantly less frequent (p 9 days from the onset of symptoms.

© Copyright Clinical and Experimental Rheumatology 2022., Objectives: To define the clinical spectrum time-course and prognosis of non-Asian patients positive for anti-MDA5 antibodies. Methods: We conducted a multicentre, international, retrospective cohort study. Results: 149 anti-MDA5 positive patients (median onset age 53 years, median disease duration 18 months), mainly females (100, 67%), were included. Dermatomyositis (64, 43%) and amyopathic dermatomyositis (47, 31%), were the main diagnosis; 15 patients (10%) were classified as interstitial pneumonia with autoimmune features (IPAF) and 7 (5%) as rheumatoid arthritis. The main clinical findings observed were myositis (84, 56%), interstitial lung disease (ILD) (108, 78%), skin lesions (111, 74%), and arthritis (76, 51%). The onset of these manifestations was not concomitant in 74 cases (50%). Of note, 32 (21.5%) patients were admitted to the intensive care unit for rapidly progressive-ILD, which occurred in median 2 months from lung involvement detection, in the majority of cases (28, 19%) despite previous immunosuppressive treatment. One-third of patients (47, 32% each) was ANA and anti-ENA antibodies negative and a similar percentage was anti-Ro52 kDa antibodies positive. Non-specific interstitial pneumonia (65, 60%), organising pneumonia (23, 21%), and usual interstitial pneumonia-like pattern (14, 13%) were the main ILD patterns observed. Twenty-six patients died (17%), 19 (13%) had a rapidly progressive-ILD. Conclusions: The clinical spectrum of the anti-MDA5 antibodies-related disease is heterogeneous. Rapidly-progressive ILD deeply impacts the prognosis also in non-Asian patients, occurring early during the disease course. Anti-MDA5 antibody positivity should be considered even when baseline autoimmune screening is negative, anti-Ro52 kDa antibodies are positive, and radiology findings show a NSIP pattern.

Aims Right ventricular systolic dysfunction (RVSD) is an important determinant of outcomes in heart failure (HF) cohorts. While the quantitative assessment of RV function is challenging using 2D-echocardiography, cardiac magnetic resonance (CMR) is the gold standard with its high spatial resolution and precise anatomical definition. We sought to investigate the prognostic value of CMR-derived RV systolic function in a large cohort of HF with reduced ejection fraction (HFrEF). Methods and results Study cohort comprised of patients enrolled in the CarDiac MagnEtic Resonance for Primary Prevention Implantable CardioVerter DefibrillAtor ThErapy registry who had HFrEF and had simultaneous baseline CMR and echocardiography (n = 2449). RVSD was defined as RV ejection fraction (RVEF) Conclusion RV systolic dysfunction is an independent predictor of ACM in HFrEF, with a more pronounced prognostic value in select subgroups, likely reflecting the importance of RVSD in the early stages of HF progression.

Interrupted aortic arch diagnosed in adult age is a rare entity, with only a few cases published in the literature. Most of them are classified as type A interrupted aortic arch and differential diagnosis is associated with severe chronic coarctation. We present a case of a 52-year-old woman accessed to the emergency department for chest and right upper limb pain that increased in the last days. She underwent a computed tomography angiogram showing interruption of the aortic arch, distal to left subclavian artery origin, large bilateral collateral vessels connecting subclavian arteries to descending aorta with multiple voluminous aneurysms, a bicuspid aortic valve, dilatated tubular segment of ascending thoracic aorta, and a suspected atrial septal defect. A nonsystematic literature review regarding these conditions has been performed.

Purpose Chest imaging modalities play a key role for the management of patient with coronavirus disease (COVID-19). Unfortunately, there is no consensus on the optimal chest imaging approach in the evaluation of patients with COVID-19 pneumonia, and radiology departments tend to use different approaches. Thus, the main objective of this survey was to assess how chest imaging modalities have been used during the different phases of the first COVID-19 wave in Italy, and which diagnostic technique and reporting system would have been preferred based on the experience gained during the pandemic. Material and Methods The questionnaire of the survey consisted of 26 questions. The link to participate in the survey was sent to all members of the Italian Society of Medical and Interventional Radiology (SIRM). Results The survey gathered responses from 716 SIRM members. The most notable result was that the most used and preferred chest imaging modality to assess/exclude/monitor COVID-19 pneumonia during the different phases of the first COVID-19 wave was computed tomography (51.8% to 77.1% of participants). Additionally, while the narrative report was the most used reporting system (55.6% of respondents), one-third of participants would have preferred to utilize structured reporting systems. Conclusion This survey shows that the participants’ responses did not properly align with the imaging guidelines for managing COVID-19 that have been made by several scientific, including SIRM. Therefore, there is a need for continuing education to keep radiologists up to date and aware of the advantages and limitations of the chest imaging modalities and reporting systems.

Objective: to analyze the most frequent radiographic features of COVID-19 pneumonia and assess the effectiveness of CXR in detecting pulmonary alterations.Materials and Methods: CXR of 240 symptomatic patients (70% male, mean age 65±16 years), with SARS-CoV-2 infection confirmed by RT-PCR were retrospectively evaluated. Patients were clustered in four groups based on the number of days between symptom onset and CXR: A (0-2 days) 49 patients, B (3-5) 75 patients, C (6- 9) 85 patients and D (>9) 31 patients. Alteration’s type (reticular/opacification/consolidation) and distribution (bilateral/unilateral, upper/middle/lower fields, peripheral/central) were noted. Statistical significance was tested using chi-squared test.Results: among 240 CXR, 60 (25%) were negative (A 36.7%, B 28%, C 18.8%, D 16.1%). Opacification was observed in 124/180 (68.8%), reticular alteration in 113/180 (62.7%), consolidation in 71/180 (39.4%). Consolidation was significantly less frequent (pConclusions: the most frequent lesions in COVID-19 patients were opacification (intermediate/late phase) and reticular alteration (early phase) while consolidation gradually increased over time. The most frequent distribution was bilateral, peripheral, with middle/lower predominance. Overall rate of negative CXR is 25%, progressively decreased over time.

Interstitial lung disease (ILD) encompasses a wide range of parenchymal lung pathologies with different clinical, histological, radiological, and serological features. Follow-up, treatment, and prognosis are strongly influenced by the underlying pathogenesis. Considering that an ILD may complicate the course of any connective tissue disease (CTD) and that CTD's signs are not always easily identifiable, it could be useful to screen every ILD patient for a possible CTD. The recent definition of interstitial pneumonia with autoimmune features is a further confirmation of the close relationship between CTD and ILD. In this context, the multidisciplinary approach is assuming a growing and accepted role in the correct diagnosis and follow-up, to as early as possible define the best therapeutic strategy. However, despite clinical advantages, until now, the pathways of the multidisciplinary approach in ILD patients are largely heterogeneous across different centers and the best strategy to apply is still to be established and validated. Aims of this article are to describe the organization of our multidisciplinary group for ILD, which is mainly focused on the early identification and management of CTD in patients with ILD and to show our results in a 1 year period of observation. We found that 15% of patients referred for ILD had an underlying CTD, 33% had interstitial pneumonia with autoimmune feature, and 52% had ILD without detectable CTD. Furthermore, we demonstrated that the adoption of a standardized strategy consisting of a screening questionnaire, specific laboratory tests, and nailfold videocapillaroscopy in all incident ILD proved useful in making the right diagnosis.

Introduction SCAD is a rare coronary event that may cause acute coronary syndromes (ACS). SCAD predominantly occurs in apparently healthy, young to middle aged women (up to 95% of cases). The known causes include: heritable connective tissue diseases, fibromuscular dysplasia, arteritis, contraceptives, cocaine abuse and chest trauma. A variable proportion of patients manifests progression to longer segments of the same vessel or recurrence of dissection in other coronary arteries. SCAD can be the first manifestation of a previously unrecognised systemic disease. Methods In 2010 we started collecting consecutive SCAD, as first clinical manifestation, in patients addressed to our attention for investigation of genetic or non genetic causes, after successful management of the acute phase and exclusion of systemic inflammatory and autoimmune diseases. All patients underwent genetic visit and counselling, collection of clinical reports and imaging records, clinical cardiologic evaluation with pan-angio CT scan, biochemical testing including coagulation-related tests, and and genetic testing of genes causing connective tissue diseases. Parallel clinical family screening and genetic testing were systematically performed. Results The series is constituted of 35 patients (28F and 7M) (age at onset, mean ± SD, 44±7.6 years) with ACS-SCAD (20 STEMI and 15 NSTEMI) and 9 second dissections in a different coronary artery. Two sisters had ACS-SCAD caused by dissection of the same coronary artery. We identified pathologic mutations (n=19/35, 54%) in COL3A1 (n=3), FBN1 (n=1), FBN1+TGFBR1 (n=1), TGFBR1 (n=2), TGFBR2 (n=1), MYLK (n=1), SMAD3 (n=1), COL5A1 (n=1 homozygous), COL5A2 (n=1), MYH11 (n=1), TGFB2 (n=1), ABCC6 (1 homozygous), ELN (2 homozygous sisters and 1 heterozygous unrelated patient), NOTCH1 (n=1). In 8 (23%) patients we identified VUS classified as C3 because previously unreported and predicted as uncertain on the basis of in silico analyses. In the remaining 8 patients we only identified C2 variants. A second SCAD (14 days to 78 months after the first event) occurred in 9 patients (9/35, 25%) (COL3A1 (n=2), FBN1 (n=1), FBN1+TGFBR1 (n=1), MYLK (n=1), COL5A2 (n=1), NOTCH1 (n=1) COL5A2 (n=1) and 1 with a C2 variant in COL3A1. Two patients with thrombocytosis were carriers of the somatic JAK2 V617F mutation. Extra-coronary arterial dilations/aneurysms occurred in 13 families; in the follow-up 2 patients demonstrate dissection in non-coronary arteries. Conclusions Our series, with the potential bias of a referral centre for inherited cardiovascular disease, demonstrated that SCAD is the possible first manifestation of a genetic disorder and that neither disease gene or mutation predicts the risk of a second coronary event. SCAD is a potentially fatal coronary event associated with ACS, warning for familial disease and unpredictable risk of recurrence.

Interstitial Lung Disease (ILD) is a common finding of Systemic Sclerosis (SSc) mainly presenting in the form of Nonspecific Interstitial Pneumonia (NSIP) and deeply affecting patients' prognosis. Beside NSIP, other types of ILD have been reported. The most recently described pattern is the so-called Combined-pulmonary emphysema and lung fibrosis, characterized by the coexistence of both upper lobes centrilobular and paraseptal emphysema and lower lobes ILD. We presented three cases of patients with SSc, in which High Resolution Computed Tomography examinations showed emphysema with atypical distribution and radiological presentation, without or with mild signs of fibrosing lung disease, that stabilized after immunosuppressive treatment.

Background Interstitial Pneumonia with Autoimmune feature (IPAF) is a recently defined disease that includes Interstitial Lung Disease (ILD) patients with features of autoimmunity, not satisfying any of the established classification criteria for connective tissue diseases (CTD). Even if IPAF pateints share clinical and serological findings with CTD, we are unaware about the clinical evolution of IPAF pateints. Objectives To define the characteristics and evolution of IPAF patients in a multidisciplinary setting. Methods We selected patients with a diagnosis of IPAF referring to a multidisciplinary Rheumatology/Pneumology/Radiology team at our hospital. We excluded from the analysis patients positive for antisynthetase antibodies, as diagnosed with antisynthetase syndrome. Data were retrospectively collected from our hospital medical records. Results We analyzed 25 patients (19 females, 76%, 6 males, 24%), with a median onset age of 67 years (interquartile range, IQR, 59-74) and a follow-up of 32 months (IQR 22-69). ANA test was positive in 23 (92%) cases (fig 1), whereas cytoplasmic positivity was observed in 17 (68%). Anti-ENA screen was positive in 9 patients (36%) (7 [28%] anti-Ro52 and 2 [8%] anti-RNP). One patient (4%) was positive for anti-PM-Scl, 1 (4%) for anti-Mi2 and 1 (4%) for anti-Ku antibodies. These 2 latter antibodies are not included in the serological domain of IPAF. Patients had mainly a Non Specific Interstitial Pneumonia (NSIP) pattern (19 [76%]; fibrosing in 7 [28%], and with concomitant organizing pneumonia (OP) in 3 [12%]). Three (12%) patients had Usual Interstitial Pneumonia-like and 3 (12%) an OP pattern. The majority of patients (15 [60%]) satisfied only the morphological and serological domains. Clinical domains satisfied were: arthritis (4 [16%]), Raynaud’s phenomenon (5 [20%]), palmar telangiectasias (2 [8%]), mechanic’s hands (1 [4%]) and hiker’s feet (1 [4%]). We observed other findings not included in IPAF criteria but suggestive for CTDs, both clinical (inflammatory myopathy 3 [12%]; dry eye1 [4%]; sclerodactyly 1 [4%]), and instrumental (scleroderma pattern at naifold capillaroscopy 1 [4%]; dilated esophagus at barium X-rays 2 [8%]). Clinical spectrum time course was variable in 5 (20%) cases: 3 (12%) patients developed arthritis after ILD, and 2 (8%) developed ILD respectively after arthritis and inflammatory myopathy onset. Three (12%) patients were admitted to the Intensive Care Unit for Rapidly Progressive (RP) ILD and 2 died (respectively 2 months and 54 months after ILD onset), whereas the alive patient had 2 ICU admission for RP-ILD. Five (20%) patients, including the only 1 dismissed from ICU, needed home O2 therapy. Ongoing and previous therapies are reported in figure 2. Conclusion We showed that the prognosis of IPAF is highly variable, with patients experiencing RP ILD, other slow progressive worsening of respiratory functions and other a substantially stable disease. Furthermore, we showed other findings, laboratory, clinical and instrumental, that could help clinicians in a better identification and stratification of IPAF patients. As a matter of fact, at present, IPAF appears as a generic term including very different conditions that can be further differentiated according to clinical and serological data. References [1] Fischer A, et al. Eur Respir J 2015 [2] Scire CA, et al. Resp Med 2017 [3] Sambataro G, et al. Eur Resp Rev2018 [4] Cavagna L, et al. Eur Resp Rev2018 Disclosure of Interests Emiliano Marasco: None declared, Federica Meloni: None declared, Giovanni Zanframundo: None declared, Adele Valentini: None declared, Valentina Morandi: None declared, Veronica Codullo: None declared, Lorenzo Volpiano: None declared, Claudia La Carruba: None declared, Francesca Motta: None declared, Carlomaurizio Montecucco Speakers bureau: AbbVie, Bristol-Myers Squibb, Celgene, Sanofi, Genzyme, Lilly, MSD, Pfizer, UCB, Lorenzo Cavagna: None declared

Background:Interstitial lung disease (ILD), is common in patients with idiopathic inflammatory myopathies (IIM) and strongly impact on patients’ morbidity and mortality. Patients with anti-aminoacyl-transfer RNA-synthetases (anti-ARS) antibodies are associated with an increased risk of ILD.Objectives:Defining the radiological characteristics of IIM patients, with special focus on serological groups, through qualitative, semiquantitative and quantitative analysis of lung CT.Methods:This was a prospective study conducted from 2016 to 2019. Ninety-eight IIM patients (35 men, 63 women) were included. Myositis specific autoantibodies (MSA) were assessed with Myositis Prophyle III (Euroimmune, Lubeck).Each patient had a baseline CT; the total score of Warrick (WS) was obtained at semiquantitative analysis. The radiological scores ILD% (interstitial lung disease %) and PVRS% (pulmonary vascular related structure) were the result of quantitative analysis in 61 patients (CALIPER). Pulmonary function tests (PFTs) included TLC%, FVC% and DLCO% (65 patients). The analysis was conducted in the whole group and divided in subgroups based on their MSA pattern: in particular anti-ARS (Group 1) and patients negative to MSA (Group 2) were analysed.Results:Positive correlations between ILD% and PVRS% (Rho=0.916; ρ=0.000), WS and ILD% (Rho=0.663; ρ=0.000) and WS and PVRS% (Rho=0.637; ρThe most relevant inverse correlations were found between ILD% and DLCO% (Rho=-0.590; ρ=0.001), PVRS% and DLCO% (Rho=-0.549; ρStatistically significant higher values of WS, ILD% and PVRS% were found in Group 1 (WS=15, ILD%=11 and PVRS%=3.5), compared to Group 2 (WS=2.5, ILD%=0.84 and PVRS%=2.2). NSIP pattern resulted dominant represented in the two groups (80% Group 1, 75% Group 2). No statistically significant differences of DLCO%, FVC% and TLCO% were found.Conclusion:The inverse correlations between the radiological scores and the functional data TLC% and DLCO% (ρDisclosure of Interests:None declared

In CTEPH patients who have undergone pulmonary endarterectomy, exercise capacity is better associated with changes in invasively measured pulmonary arterial compliance than with changes in magnetic resonance imaging of pulmonary artery stiffnesshttp://bit.ly/30DAWUj

Lemierre syndrome usually affects otherwise healthy adolescents or young adults and occurs at an overall rate of 1 to 10 cases per million person-years with an estimated fatality rate of 4 to 9%. Diagnostic criteria remain debated and include acute neck/head bacterial infection (often tonsillitis caused by anaerobes at high potential for sepsis and vascular invasion, notably Fusobacterium necrophorum) complicated by local vein thrombosis, usually involving the internal jugular vein, and systemic septic embolism. Medical treatment is based on antibiotic therapy with anaerobic coverage, anticoagulant drugs and supportive care in case of sepsis. Surgical procedures can be required, including drainage of the abscesses, tissue debridement and jugular vein ligation. Evidence for clinical management is extremely poor in the absence of any adequately sized study with clinical outcomes. In this article, we illustrate two cases of Lemierre syndrome not caused by Fusobacterium necrophorum and provide a clinically oriented discussion on the main issues on epidemiology, pathophysiology and management strategies of this disorder. Finally, we summarize the study protocol of a proposed systematic review and individual patient data meta-analysis of the literature. Our ongoing work aims to investigate the risk of new thromboembolic events, major bleeding or death in patients diagnosed with Lemierre syndrome, and to better elucidate the role of anticoagulant therapy in this setting. This effort represents the starting point for an evidence-based treatment of Lemierre syndrome built on multinational interdisciplinary collaborative studies. ispartof: HAMOSTASEOLOGIE vol:39 issue:1 pages:76-86 ispartof: location:Germany status: published

The presence of activating mutations of the epidermal growth factor receptor (EGFR)-gene identifies a distinct and clinically relevant molecular subset of non-small-cell lung cancer. It is now well demonstrated that EGFR tyrosine kinase inhibitors (TKIs) gefitinib and erlotinib are superior to standard chemotherapy in this subset of tumors. Nevertheless, in many cases, responses are not durable and last for 6–12 months due to the occurrence of secondary or acquired resistance. Here we present three cases of EGFR-mutant lung adenocarcinomas (ADC), that showed an unexpected response to anti-EGFR small molecules. The first patient presented a continued 89 month-long response to erlotinib in a tumor recurred after surgery and conventional chemotherapy. In the other cases, subclinically persistent tumor in the lung tissue was documented histologically in lung resections performed after partial response to TKI treatment. The persistence of interstitial and endolymphatic tumor cells after TKI treatment might explain the common observation of tumor relapse after TKI discontinuation, and sustain the decision to continue treatment in responsive patients as in our first case.

The unroofed coronary sinus is a spectrum of cardiac anomalies in which part or all of the common wall between the coronary sinus and the left atrium is absent. Most cases are associated with anomalous systemic venous return, such as persistent left superior vena cava.The diagnosis of this lesion is important to the prognosis of the patient, but it is often difficult because of nonspecific clinical features.Here we report a case of a complete unroofed coronary sinus and persistent left superior vena cava discovered during a computed tomographic investigation for pulmonary hypertension.Sommario“Unroofed coronary sinus” comprende un insieme di anomalie cardiache in cui la parete comune fra seno coronarico e atrio sinistro è parzialmente o completamente assente. La maggior parte dei casi è associata a un ritorno venoso sistemico anomalo, come la persistenza della vena cava superiore sinistra.La diagnosi di questa anomalia è importante per la prognosi del paziente, ma è spesso difficoltosa a causa dei segni clinici aspecifici.Qui illustriamo un caso di assenza completa del tetto del seno coronarico associato a persistenza della vena cava superiore sinistra, riscontrato durante un esame di tomografia computerizzata effettuato per ipertensione polmonare.

Aims To assess the relationship between cardiovascular magnetic resonance (CMR) parameters and both spontaneous ventricular tachycardia (VT) and risk of sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM) patients. Methods and results One hundred and eight consecutive HCM patients (mean age 42 ± 15 years, 76% males) underwent CMR evaluation and risk assessment. Delayed contrast enhancement (DCE) was quantified with a specifically designed score. Endpoints were either the presence of clinical VT/ventricular fibrillation (VF) or of acknowledged risk factors for SCD. Compared to patients without arrhythmia, those with VT/VF ( n = 33) had a higher DCE score [median 8 (2–13) vs. 11 (6–20); P = 0.01]; DCE score was also the only independent predictor of VT/VF in the multivariable model. DCE score [median 6 (1–10.5) vs. 12 (6–18); P = 0.001], mean and maximal left ventricular (LV) wall thickness (MaxLVWT), as well as LV mass index were significantly greater among patients at risk for SCD ( n = 51) compared with the remaining 57 patients at low risk. DCE score and MaxLVWT were independent predictors of SCD risk. Conclusion In HCM patients several CMR parameters are associated with risk for SCD. A semi-quantitative index of DCE is a significant multivariable predictor of both clinical VT/VF and of risk for SCD and may contribute to risk assessment in borderline or controversial cases.

Knowledge of tumor mutational status has become a priority for effective NSCLC-tailored treatment. NSCLC diagnosis is more often reached through biopsy; thus, there is a clear need to implement for routine tumor molecular profiling on small cytological samples. This work aims to screen and compare the EGFR and KRAS mutational prevalence in fresh tumor cells and in corresponding routinely processed samples derived from trans-thoracic fine-needle aspiration. The latter currently represents the most appropriate diagnostic procedure in case of peripheral lesions, such as adenocarcinomas, which account for almost 40% of all NSCLCs and for the highest EGFR mutational rates.Two hundred and forty-four patients carrying peripheral lung masses underwent CT-guided aspiration. The obtained material was split, and a part was addressed to conventional histopathological analysis while the remaining one was stored at -20 °C. In case of confirmation of adenocarcinoma, tumor genomic DNA was extracted from both fresh and fixed material, and EGFR and KRAS sequencing was performed.We identified 136 adenocarcinomas; from 134, we could recover enough material for the study. A full match was demonstrated between EGFR/KRAS mutational prevalences through the two approaches tested. We found EGFR mutations in 13 patients (9.7%); 7 were females and 11 never or former smokers. KRAS mutations occurred in 20 (14.9%) patients. EGFR and KRAS mutations were mutually exclusive.Mutational screening on fresh cancer cells is an achievable, safe and cost-effective procedure which might allow routinely tumor molecular profiling as powerful integration of conventional histopathological analysis.

Objectives Chronic thromboembolic pulmonary hypertension can be cured by pulmonary endarterectomy. Operability assessment remains a major concern, because there are no well-defined criteria to discriminate proximal from distal obstructions, and surgical candidacy depends mostly on the surgeon's experience. The intraoperative classification of chronic thromboembolic pulmonary hypertension describes 4 types of lesions, based on anatomy and location. We describe our recent experience with the more distal (type 3) disease. Methods More than 500 pulmonary endarterectomies were performed at Foundation I.R.C.C.S. Policlinico San Matteo (Pavia, Italy). Because of recent changes in the patient population, 331 endarterectomies performed from January 2008 to December 2013 were analyzed. Two groups of patients were identified according to the intraoperative classification: proximal (type 1 and type 2 lesions, 221 patients) and distal (type 3 lesions, 110 patients). Results The number of endarterectomies for distal chronic thromboembolic pulmonary hypertension increased significantly over time (currently ∼37%). Deep venous thrombosis was confirmed as a risk factor for proximal disease, whereas patients with distal obstruction had a higher prevalence of indwelling intravascular devices. Overall hospital mortality was 6.9%, with no difference in the 2 groups. Postoperative survival was excellent. In all patients, surgery was followed by a significant and sustained improvement in hemodynamic, echocardiographic, and functional parameters, with no difference between proximal and distal cases. Conclusions Although distal chronic thromboembolic pulmonary hypertension represents the most challenging situation, the postoperative outcomes of both proximal and distal cases are excellent. The diagnosis of inoperable chronic thromboembolic pulmonary hypertension should be achieved only in experienced centers, because many patients who have been deemed inoperable might benefit from favorable surgical outcomes.

Background: Q waves and negative T waves are common electrocardiographic (ECG) abnormalities in patients with Hypertrophic Cardiomyopathy (HCM). Several studies correlated ECG findings with presence and extent of fibrosis and hypertrophy; however, their significance remains incompletely clarified. Our study aimed to explain the mechanism behind Q and negative T waves by comparing their positions on a 12-lead ECG with phenotypes observed at Late Gadolinium Enhancement (LGE) Cardiac Magnetic Resonance (CMR). Methods: 12-lead ECG and LGE-CMR were performed in 88 consecutive patients with HCM (42 SD 16 years, 65 males). Using Delta Thickness ratio (DT ratio), and “global” and “parietal” LGE at CMR, the extent and distribution of myocardial hypertrophy and fibrosis were studied in correlation with ECG abnormalities. Results: Q waves in different leads were not associated with “parietal” LGE score. Lateral Q waves correlated with an increased DT ratio Inferior Septum/Lateral wall (p = 0.01). A similar correlation between inferior Q waves and an increased DT Ratio Anterior wall/Inferior wall was of borderline statistical significance (p = 0.06). As expected, ECG signs of LV hypertrophy related to a raised Left Ventricular Mass Index (LVMI) (p