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51.
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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
53.
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
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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
56.
A study for evaluating the effect of the deltoid-flap repair in massive rotator cuff defects 总被引:2,自引:1,他引:1
Gunter Spahn Stefan Kirschbaum Hans Michael Klinger 《Knee surgery, sports traumatology, arthroscopy》2006,14(4):365-372
The repair of massive cuff defects by direct suture often is impossible. In these cases, a repair by musculo–tendineous flaps (latissimus-dorsi, pectoralis or deltoideus) is required. It was the goal of this study to evaluate the result of delta-flap repair in case of massive cuff defects with a diameter of 5 cm or more. Between 1998 and 2000 for all patients who were suffering from a massive rotator cuff tear more than 5 cm a deltoid transfer was performed. A total of 20 patients (14 male, 6 female; age: 60.9 ± 8.7 years) were available for a follow-up after 47.2 ± 8.0 (range, 36 to 60) month. The operation included an arthroscopic evaluation, acromioplasty with resection of the lateral clavicular end, and biceps tenodesis. The cuff defect was repaired by transfer a muscular flap from the anterior part of the deltoid (about 2×6 cm) into the defect. The patients subjectively rated their result—10 excellent, 9 good, and 1 poor. Preoperatively, the Constant amounted 26.3 ± 5.1 points. At follow-up, the score significantly increased to 74.5 ± 8.5 points. The acromiohumeral distance increased from 4.9 ± 1.1 to 9.2 ± 1.7 mm. In MRI examination of 11 patients all had an intact flap. Two complications (a wound hematoma and a deep infection) did not influence the result. The repair of massive rotator cuff tears by a deltoid transfer produces acceptable clinical and radiological results. 相似文献
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Barry L Eppley A Michael Sadove David Hennon John A van Aalst 《The Cleft palate-craniofacial journal》2006,43(3):374-378
OBJECTIVE: A series of nasopharyngeal appliance designs is presented that represents our evolving experience over a 20-year period in the adjunctive use of prosthetic stents in the surgical correction of nasopharyngeal stenosis. DESIGN: Retrospective assessment of effectiveness of two nasopharyngeal stenosis hollow stent designs in a consecutive series of patients for relief of nasal obstructive symptoms. SETTING: Tertiary academic medical center, Craniofacial Program at Children's Hospital. PATIENTS: Four patients with nasopharyngeal stenosis were treated with a preoperatively fabricated stent made from a clasped palatal appliance onto which hollow acrylic conduits were extended through surgically re-created pharyngeal ports. A subsequent set of four patients with nasopharyngeal stenosis were treated with intraoperatively-fashioned silastic grommets, as opposed to palatal appliances. INTERVENTIONS: Postoperative intraoral stenting of nasopharyngeal ports. MAIN OUTCOME MEASURES: Maintenance of pharyngeal port opening after 1 year, improvement in nasal airway obstructive symptoms. RESULTS: The palatal appliance stents were less well tolerated and had a lower maintenance of port patency after device removal (4 of 8, 50%). The silastic grommets provided better retention into the ports and increased patient tolerance, as well as better 1-year port maintenance (6 of 8, 75%). CONCLUSIONS: The grommet stent appliance offers numerous advantages over a conventional dental-clasped appliance for prosthetic nasopharyngeal stenting, including obviation of extensive preoperative preparation, ease of insertion and removal, and exchange of air during the stenting period. Improved nasopharyngeal patency with this device may be due to greater patient tolerance and subsequent longer use. 相似文献
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