Mucoepidermoid carcinoma (MEC) represents 15% of all salivary glands malignancies. Metastatic disease at diagnosis is observed in less than 5% of the cases. The lung is the most commonly involved ...site. This is the first reported case of high-grade MEC of the salivary gland with skin metastases at diagnosis. This feature was associated with a chemoresistant and aggressive behaviour. Differential diagnosis between metastatic MEC and primary skin MEC is essential for therapeutic management and prognosis.
Summary
The diagnosis of primary sclerosing cholangitis (PSC) is difficult due to the lack of sensitive and specific biomarkers, as is the early diagnosis of cholangiocarcinoma (CC), a complication ...of PSC. The aim of this study was to identify specific serum miRNAs as diagnostic biomarkers for PSC and CC. The levels of 667 miRNAs were evaluated in 90 human serum samples (30 PSC, 30 CC and 30 control subjects) to identify disease‐associated candidate miRNAs (discovery phase). The deregulated miRNAs were validated in an independent cohort of 140 samples 40 PSC, 40 CC, 20 primary biliary cirrhosis (PBC) and 40 controls. Receiver operating characteristic (ROC) curves were established and only miRNAs with an area under the curve (AUC) > 0·70 were considered useful as biomarkers. In the discovery phase we identified the following: 21 miRNAs expressed differentially in PSC, 33 in CC and 26 in both in comparison to control subjects as well as 24 miRNAs expressed differentially between PSC and CC. After the validation phase, miR‐200c was found to be expressed differentially in PSC versus controls, whereas miR‐483‐5p and miR‐194 showed deregulated expression in CC compared with controls. We also demonstrate a difference in the expression of miR‐222 and miR‐483‐5p in CC versus PSC. Combination of these specific miRNAs further improved the specificity and accuracy of diagnosis. This study provides a basis for the use of miRNAs as biomarkers for the diagnosis of PSC and CC.
To define the role of surgical management of lung metastases in ACC. Twenty ACC patients referred to lung metastasectomy were retrospectively reviewed. Twenty-six operations were performed; at the ...first metastasectomy, a resection with clear margins (R0) was achieved in 11 patients (55%), 3 are alive and well. Four out of 9 patients with residual disease (R2) are still alive. Median survival after metastasectomy was 78 and 52 months for R0 and R2 (p=0.4); median freedom from progression (FFP) in R0 and R2 groups was 30 and 15 months (p=0.2), respectively. A better outcome was obtained for patients with a disease-free interval ⩾36 months and ⩾6 metastases and bilateral involvement were critical in achieving a R0 intervention. Lung metastasectomy provided a prolonged FFP in a high selected subset of patients with ACC. However, if this could be translated into a survival benefit, it is still to be demonstrated.
Abstract
We aim to provide a critical appraisal of basic concepts underlying signal recording and processing technologies applied for (i) atrial fibrillation (AF) mapping to unravel AF mechanisms ...and/or identifying target sites for AF therapy and (ii) AF detection, to optimize usage of technologies, stimulate research aimed at closing knowledge gaps, and developing ideal AF recording and processing technologies. Recording and processing techniques for assessment of electrical activity during AF essential for diagnosis and guiding ablative therapy including body surface electrocardiograms (ECG) and endo- or epicardial electrograms (EGM) are evaluated. Discussion of (i) differences in uni-, bi-, and multi-polar (omnipolar/Laplacian) recording modes, (ii) impact of recording technologies on EGM morphology, (iii) global or local mapping using various types of EGM involving signal processing techniques including isochronal-, voltage- fractionation-, dipole density-, and rotor mapping, enabling derivation of parameters like atrial rate, entropy, conduction velocity/direction, (iv) value of epicardial and optical mapping, (v) AF detection by cardiac implantable electronic devices containing various detection algorithms applicable to stored EGMs, (vi) contribution of machine learning (ML) to further improvement of signals processing technologies. Recording and processing of EGM (or ECG) are the cornerstones of (body surface) mapping of AF. Currently available AF recording and processing technologies are mainly restricted to specific applications or have technological limitations. Improvements in AF mapping by obtaining highest fidelity source signals (e.g. catheter–electrode combinations) for signal processing (e.g. filtering, digitization, and noise elimination) is of utmost importance. Novel acquisition instruments (multi-polar catheters combined with improved physical modelling and ML techniques) will enable enhanced and automated interpretation of EGM recordings in the near future.
Long QT Syndrome and Pregnancy Seth, Rahul, MD; Moss, Arthur J., MD; McNitt, Scott, MS ...
Journal of the American College of Cardiology,
03/2007, Letnik:
49, Številka:
10
Journal Article
Recenzirano
Odprti dostop
Long QT Syndrome and Pregnancy Rahul Seth, Arthur J. Moss, Scott McNitt, Wojciech Zareba, Mark L. Andrews, Ming Qi, Jennifer L. Robinson, Ilan Goldenberg, Michael J. Ackerman, Jesaia Benhorin, ...Elizabeth S. Kaufman, Emanuela H. Locati, Carlo Napolitano, Silvia G. Priori, Peter J. Schwartz, Jeffrey A. Towbin, G. Michael Vincent, Li Zhang The risk of experiencing an adverse cardiac event, including syncope, aborted cardiac arrest, and sudden death, during and after pregnancy was analyzed for women who had their first birth from 1980 to 2003 (n = 391). Compared with a time period before a woman’s first conception, the pregnancy time was associated with a reduced risk of cardiac events and an increased risk during the 9-month postpartum period, especially among women with the LQT2 genotype. Beta-blockers were associated with a reduction in cardiac events during the high-risk postpartum time period.
Long QT Syndrome in Adults Sauer, Andrew J., BS; Moss, Arthur J., MD; McNitt, Scott, MS ...
Journal of the American College of Cardiology,
01/2007, Letnik:
49, Številka:
3
Journal Article
Recenzirano
Odprti dostop
Long QT Syndrome in Adults Andrew J. Sauer, Arthur J. Moss, Scott McNitt, Derick R. Peterson, Wojciech Zareba, Jennifer L. Robinson, Ming Qi, Ilan Goldenberg, Jenny B. Hobbs, Michael J. Ackerman, ...Jesaia Benhorin, W. Jackson Hall, Elizabeth S. Kaufman, Emanuela H. Locati, Carlo Napolitano, MD, Silvia G. Priori, Peter J. Schwartz, Jeffrey A. Towbin, G. Michael Vincent, Li Zhang The clinical course and risk factors for cardiac events in genotype-confirmed adult patients with long QT syndrome (LQTS) were investigated. The severity of LQTS in adulthood can be risk stratified with information regarding genotype, gender, corrected QT duration, and history of cardiac events. Beta-blockers effectively reduce but do not eliminate the risk of both syncopal and life-threatening cardiac events in adult patients with mutation-confirmed LQTS.
Objectives This study was designed to assess the clinical course and to identify risk factors for life-threatening events in patients with long-QT syndrome (LQTS) with normal corrected QT (QTc) ...intervals. Background Current data regarding the outcome of patients with concealed LQTS are limited. Methods Clinical and genetic risk factors for aborted cardiac arrest (ACA) or sudden cardiac death (SCD) from birth through age 40 years were examined in 3,386 genotyped subjects from 7 multinational LQTS registries, categorized as LQTS with normal-range QTc (≤440 ms n = 469), LQTS with prolonged QTc interval (>440 ms n = 1,392), and unaffected family members (genotyped negative with ≤440 ms n = 1,525). Results The cumulative probability of ACA or SCD in patients with LQTS with normal-range QTc intervals (4%) was significantly lower than in those with prolonged QTc intervals (15%) (p < 0.001) but higher than in unaffected family members (0.4%) (p < 0.001). Risk factors ACA or SCD in patients with normal-range QTc intervals included mutation characteristics (transmembrane-missense vs. nontransmembrane or nonmissense mutations: hazard ratio: 6.32; p = 0.006) and the LQTS genotypes (LQTS type 1:LQTS type 2, hazard ratio: 9.88; p = 0.03; LQTS type 3:LQTS type 2, hazard ratio: 8.04; p = 0.07), whereas clinical factors, including sex and QTc duration, were associated with a significant increase in the risk for ACA or SCD only in patients with prolonged QTc intervals (female age >13 years, hazard ratio: 1.90; p = 0.002; QTc duration, 8% risk increase per 10-ms increment; p = 0.002). Conclusions Genotype-confirmed patients with concealed LQTS make up about 25% of the at-risk LQTS population. Genetic data, including information regarding mutation characteristics and the LQTS genotype, identify increased risk for ACA or SCD in this overall lower risk LQTS subgroup.
Objectives We aimed to identify risk factors for recurrent syncope in children and adolescents with congenital long QT syndrome (LQTS). Background Data regarding risk assessment in LQTS after the ...occurrence of the first syncope episode are limited. Methods The Prentice-Williams-Peterson conditional gap time model was used to identify risk factors for recurrent syncope from birth through age 20 years among 1,648 patients from the International Long QT Syndrome Registry. Results Multivariate analysis demonstrated that corrected QT interval (QTc) duration (≥500 ms) was a significant predictor of a first syncope episode (hazard ratio: 2.16), whereas QTc effect was attenuated when the end points of the second, third, and fourth syncope episodes were evaluated (hazard ratios: 1.29, 0.99, 0.90, respectively; p < 0.001 for the null hypothesis that all 4 hazard ratios are identical). A genotype-specific subanalysis showed that during childhood (0 to 12 years), males with LQTS type 1 had the highest rate of a first syncope episode (p = 0.001) but exhibited similar rates of subsequent events as other genotype-sex subsets (p = 0.63). In contrast, in the age range of 13 to 20 years, long QT syndrome type 2 females experienced the highest rate of both first and subsequent syncope events (p < 0.001 and p = 0.01, respectively). Patients who experienced ≥1 episodes of syncope had a 6- to 12-fold (p < 0.001 for all) increase in the risk of subsequent fatal/near-fatal events independently of QTc duration. Beta-blocker therapy was associated with a significant reduction in the risk of recurrent syncope and subsequent fatal/near-fatal events. Conclusions Children and adolescents who present after an episode of syncope should be considered to be at a high risk of the development of subsequent syncope episodes and fatal/near-fatal events regardless of QTc duration.
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