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71.
Emmi Helle Aldo Córdova-Palomera Tiina Ojala Priyanka Saha Praneetha Potiny Stefan Gustafsson Erik Ingelsson Michael Bamshad Deborah Nickerson Jessica X. Chong University of Washington Center for Mendelian Genomics Euan Ashley James R. Priest 《Genetic epidemiology》2019,43(2):215-226
Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare or low-frequency missense variants were found in 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and noncoding variants in NOTCH1 in 1,085 cases and 332,788 controls from the UK Biobank. Two rare intronic variants in strong linkage disequilibrium displayed significant association with risk for LVOTO amongst European-ancestry individuals. This result was replicated in an independent analysis of 210 cases and 68,762 controls of non-European and mixed ancestry. In conclusion, carrying rare predicted loss of function variants in NOTCH1 confer significant risk for LVOTO. In addition, the two intronic variants seem to be associated with an increased risk for these defects. Our approach demonstrates the utility of population-based data sets in quantifying the specific risk of individual variants for disease-related phenotypes. 相似文献
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Mahwash Kassi Venkateshwar Polsani Robert C. Schutt Solomon Wong Faisal Nabi Michael J. Reardon Dipan J. Shah 《The Journal of thoracic and cardiovascular surgery》2019,157(5):1912-1922.e2
Background
The purpose of this analysis is to describe the differences in cardiac magnetic resonance characteristics between benign and malignant tumors, which would be helpful for surgical planning.Methods
This was a prospective cohort study of 130 patients who underwent cardiac magnetic resonance imaging for evaluation of a suspected cardiac mass. After excluding thrombi and tumors without definitive diagnosis, 66 tumors were evaluated for morphologic features and tissue composition.Results
Of the 66 patients, 39 (59.0%) had malignant tumors and 27 (41.0%) had benign tumors. Patients with malignant tumors were younger when compared with those with benign tumors (age 51 years [42.8-60.0] vs 65 years [60.0-71.0] median). Malignant tumors more often demonstrated tumor invasion (69% vs 0% P < .001) and were more often associated with pericardial effusion (41% vs 7.4% P = .004). Presence of first-pass perfusion (100% vs 33% P < .001) and late gadolinium enhancement (100% vs 59.2%, P < .001) were significantly higher in malignant tumors. In logistic regression modeling, tumor invasion (P < .001) and first-pass perfusion (P < .001) were independently associated with malignancy. Furthermore, using classification and regression tree analysis, we developed a decision tree algorithm to help differentiate benign from malignant tumors (diagnostic accuracy ~90%). The algorithm-weighted cost of misclassifying a malignant tumor as benign was twice that of classifying a benign tumor as malignant.Conclusions
Our study demonstrates that cardiac magnetic resonance imaging is a useful noninvasive method for differentiating malignant from benign cardiac tumors. Tumor size, invasion, and first-pass perfusion were useful imaging characteristics in differentiating benign from malignant tumors. 相似文献75.
Der Freie Zahnarzt - Rechtstipp. Für angebliche Behandlungs- und Aufklärungsfehler bleiben die Zivilgerichte auch bei Kostenerstattung zuständig. Eine kuriose, wiewohl wichtige... 相似文献
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Oral Everolimus for Treatment of a Giant Left Ventricular Rhabdomyoma in a Neonate—Rapid Tumor Regression Documented by Real Time 3D Echocardiography
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Robert Wagner M.D. Ph.D. Frank Thomas Riede M.D. Hiroshi Seki M.D. Frauke Hornemann M.D. Steffen Syrbe M.D. Ingo Daehnert M.D. Ph.D. Michael Weidenbach M.D. Ph.D. 《Echocardiography (Mount Kisco, N.Y.)》2015,32(12):1876-1879
The presented case reports on successful treatment with everolimus in a neonate with left ventricular giant rhabdomyoma. The authors used a different dosage regime compared to literature and documented rapid tumor regression by 3D echocardiography. 相似文献
78.
Benjamin R. Griffin J. Pedro Teixeira Sophia Ambruso Michael Bronsert Jay D. Pal Joseph C. Cleveland T. Brett Reece David A. Fullerton Sarah Faubel Muhammad Aftab 《The Journal of thoracic and cardiovascular surgery》2021,161(4):1346-1355.e3
ObjectivesSevere acute kidney injury (AKI) is a known risk factor for infection and mortality. However, whether stage 1 AKI is a risk factor for infection has not been evaluated in adults. We hypothesized that stage 1 AKI following cardiac surgery would independently associate with infection and mortality.MethodsIn this retrospective propensity score–matched study, we evaluated 1620 adult patients who underwent nonemergent cardiac surgery at the University of Colorado Hospital from 2011 to 2017. Patients who developed stage 1 AKI by Kidney Disease Improving Global Outcomes creatinine criteria within 72 hours of surgery were matched to patients who did not develop AKI. The primary outcome was an infection, defined as a new surgical-site infection, positive blood or urine culture, or development of pneumonia. Secondary outcomes included in-hospital mortality, stroke, and intensive care unit (ICU) and hospital length of stay (LOS).ResultsStage 1 AKI occurred in 293 patients (18.3%). Infection occurred in 20.9% of patients with stage 1 AKI compared with 8.1% in the no-AKI group (P < .001). In propensity-score matched analysis, stage 1 AKI independently associated with increased infection (odds ratio [OR]; 2.24, 95% confidence interval [CI], 1.37-3.17), ICU LOS (OR, 2.38; 95% CI, 1.71–3.31), and hospital LOS (OR, 1.30; 95% CI, 1.17-1.45).ConclusionsStage 1 AKI is independently associated with postoperative infection, ICU LOS, and hospital LOS. Treatment strategies focused on prevention, early recognition, and optimal medical management of AKI may decrease significant postoperative morbidity. 相似文献
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Factors predicting tracer uptake in somatostatin receptor and MIBG scintigraphy of metastatic gastroenteropancreatic neuroendocrine tumors. 总被引:1,自引:0,他引:1
Samer Ezziddin Timur Logvinski Charlotte Yong-Hing Hojjat Ahmadzadehfar Hans-Peter Fischer Holger Palmedo Jan Bucerius Michael J Reinhardt Hans-Jürgen Biersack 《Journal of nuclear medicine》2006,47(2):223-233
Radiolabeled octreotide analogs (Oct) and metaiodobenzylguanidine (MIBG) offer 2 different approaches for imaging and targeting metastatic gastroenteropancreatic neuroendocrine tumors (GEP-NET). Despite successful establishment of the revised World Health Organization (WHO) classification, which distinguishes between low- and high-grade malignant GEP-NET, there is a lack of scintigraphic studies comparing uptake behavior on the basis of this categorization. This study aims to define predisposing factors of tracer uptake for both imaging principles implementing the updated tumor criteria of the current WHO classification. METHODS: Fifty-seven consecutive patients with histologically confirmed metastatic GEP-NET evaluated with both 111In-pentetreotide and 123I/131I-MIBG scintigraphy were included in this study. Intensity of tracer uptake was graded according to the different metastatic regions. Patients were classified as overall positive when avid uptake in the clinically relevant tumor lesions was present. Correlation was tested between the proportion of positive patients and tumor origin, function, and malignancy. RESULTS: Overall, 52 patients (91.2%) were Oct positive and 28 patients (49.1%) were MIBG positive. The proportion of tracer-positive patients was significantly higher (P < 0.05) in low-grade malignant tumors for both tracers and in functioning as well as in gastroenteral NET for MIBG. Five patients were negative for both tracers. None of the Oct-negative patients proved to be MIBG positive. CONCLUSION: Oct affinity is observed with high frequency throughout the subgroups of metastatic GEP-NET, whereas corresponding MIBG uptake is overall less prevalent and more group dependent. Tumor differentiation significantly impacts both Oct and MIBG uptake, whereas functionality predisposes only for MIBG accumulation. Though clearly inferior to Oct-based radioimaging in most GEP-NET, MIBG achieves a remarkable rate of radioligand accumulation in functioning midgut enterochromaffin cell metastases (>80% of patients positive). These results may have implications for patient management and potentially for selection and performance of targeted therapy. 相似文献