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Journal of vascular anomalies最新文献

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Detection of NRAS Mutation in Kaposiform Lymphangiomatosis Using Cell-free DNA from Plasma 血浆游离DNA检测卡波西样淋巴管瘤NRAS突变
Journal of vascular anomalies Pub Date : 2023-01-05 DOI: 10.1097/jova.0000000000000062
Fiona Lynch, Veronika Dvorakova, Alan D. Irvine
{"title":"Detection of NRAS Mutation in Kaposiform Lymphangiomatosis Using Cell-free DNA from Plasma","authors":"Fiona Lynch, Veronika Dvorakova, Alan D. Irvine","doi":"10.1097/jova.0000000000000062","DOIUrl":"https://doi.org/10.1097/jova.0000000000000062","url":null,"abstract":"Kaposiform lymphangiomatosis is a rare lymphatic anomaly that occurs in children and is associated with life-threatening complications. The somatic mutation NRAS Q61R (c.182A>G) has been identified in lesional tissue samples of patients with kaposiform lymphangiomatosis, and can be used to differentiate this condition from other complex lymphatic anomalies and to guide treatment. Tissue sampling in this lymphatic anomaly is inherently risky due to its involvement of thoracic and abdominal organs and associated coagulopathy. Analysis of cell-free DNA isolated from blood plasma presents a promising noninvasive diagnostic strategy. Here, we describe the use of this approach using a commercial assay.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"87 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135406226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel Discovery of ROS1:PPFIBP1 fusion protein in General Lymphatic Anomaly ROS1:PPFIBP1融合蛋白在一般淋巴异常中的新发现
Journal of vascular anomalies Pub Date : 2023-01-02 DOI: 10.1097/jova.0000000000000061
Angela Kadenhe-Chiweshe, Michael Baad, Shipra Kaicker, Susan Mathew, Bradley Pua, Shaun Steigman, Catherine McGuinn
{"title":"Novel Discovery of ROS1:PPFIBP1 fusion protein in General Lymphatic Anomaly","authors":"Angela Kadenhe-Chiweshe, Michael Baad, Shipra Kaicker, Susan Mathew, Bradley Pua, Shaun Steigman, Catherine McGuinn","doi":"10.1097/jova.0000000000000061","DOIUrl":"https://doi.org/10.1097/jova.0000000000000061","url":null,"abstract":"Generalized lymphatic anomaly (GLA) is a morbid condition with few treatment options. Cure is currently not possible, and therefore, treatment is aimed at symptom relief, improving function, and slowing the progression of disease. Despite a recent explosion of knowledge in identifying the underlying pathogenic pathways that are involved in these disease processes, the genetic and biologic pathways underlying and driving these disorders remain poorly understood. Next-generation sequencing provides a unique tool that can help to unveil mutations in driver pathways expanding the use of targeted therapies. Here, we report the novel discovery of a ROS1 fusion protein, ROS1:PPFIBP1 in an adolescent with GLA. While ROS1 fusion proteins have been shown to be drivers of disease in various adult and pediatric cancers, they have not been previously reported in vascular anomalies. This discovery provides a basis for potential additional treatment options with recently Food and Drug Administration-approved ROS1 inhibitors.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"23 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135799667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prospective Observational Study of Pain Severity and Pain Interference Outcomes Following Percutaneous MRI-guided Laser Ablation or Cryoablation for Focal Painful Peripheral, Soft Tissue Vascular Malformations: 12-month Outcomes 经皮mri引导的激光消融或冷冻消融治疗局灶性疼痛周围软组织血管畸形后疼痛严重程度和疼痛干扰结果的前瞻性观察研究:12个月的结果
Journal of vascular anomalies Pub Date : 2022-12-28 DOI: 10.1097/jova.0000000000000055
S. Thompson, Erica M. Knavel Koepsel, G. Powell, E. Bendel, H. Bjarnason, Stephanie F Polites, D. Adamo, Desirae L. Howe-Clayton, C. Favazza, A. Lu, K. Anderson, M. Tollefson, D. Woodrum
{"title":"Prospective Observational Study of Pain Severity and Pain Interference Outcomes Following Percutaneous MRI-guided Laser Ablation or Cryoablation for Focal Painful Peripheral, Soft Tissue Vascular Malformations: 12-month Outcomes","authors":"S. Thompson, Erica M. Knavel Koepsel, G. Powell, E. Bendel, H. Bjarnason, Stephanie F Polites, D. Adamo, Desirae L. Howe-Clayton, C. Favazza, A. Lu, K. Anderson, M. Tollefson, D. Woodrum","doi":"10.1097/jova.0000000000000055","DOIUrl":"https://doi.org/10.1097/jova.0000000000000055","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"64 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88953722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of Treatment Patterns and Outcomes of Patients With PIK3CA-related Overgrowth Spectrum pik3ca相关过度生长谱患者的治疗模式和结果评估
Journal of vascular anomalies Pub Date : 2022-12-01 DOI: 10.1097/jova.0000000000000060
N. Engel-Nitz, C. Martin, S. Balu, I. Frieden, A. Anderson, A. Belland, M. L. Paul
{"title":"Evaluation of Treatment Patterns and Outcomes of Patients With PIK3CA-related Overgrowth Spectrum","authors":"N. Engel-Nitz, C. Martin, S. Balu, I. Frieden, A. Anderson, A. Belland, M. L. Paul","doi":"10.1097/jova.0000000000000060","DOIUrl":"https://doi.org/10.1097/jova.0000000000000060","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85032327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Capillary Malformation-Arteriovenous Malformation Type 2, A Report of 6 Cases and Main Differential Diagnosis 毛细血管畸形-动静脉畸形2型6例分析及主要鉴别诊断
Journal of vascular anomalies Pub Date : 2022-11-23 DOI: 10.1097/jova.0000000000000053
M. Cordisco, Jinia El-Feghaly, J. Prezzano, Agustina Lanöel, Natalia Torres, Susana Persico, F. Requejo, S. Sierre, M. Fiandrino, Laura Luna, Maria Fernanda Maccario, P. Brouillard, M. Vikkula
{"title":"Capillary Malformation-Arteriovenous Malformation Type 2, A Report of 6 Cases and Main Differential Diagnosis","authors":"M. Cordisco, Jinia El-Feghaly, J. Prezzano, Agustina Lanöel, Natalia Torres, Susana Persico, F. Requejo, S. Sierre, M. Fiandrino, Laura Luna, Maria Fernanda Maccario, P. Brouillard, M. Vikkula","doi":"10.1097/jova.0000000000000053","DOIUrl":"https://doi.org/10.1097/jova.0000000000000053","url":null,"abstract":"See Related Tests Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a disorder of the vascular system characterized by enlarged capillaries that appear as small, round dots on the skin. Some affected individuals also have fastow vascular anomalies, including arteriovenous malformations (AVMs) or arteriovenous stulas (AVFs) in the skin, muscle, bone, spine, or brain. These lesions may cause life-threatening complications such as bleeding, congestive heart failure, or neurological consequences. Additional manifestations include lymphatic abnormalities, recurrent epistaxis (CM-AVM2), dermal telangiectasias (CM-AVM2), and bier spots (CM-AVM2). Genetic testing can con rm diagnosis of RASA1 -related CM-AVM disorder (CM-AVM1) or EPHB4 -related CM-AVM disorder (CM-AVM2) in individuals with clinical ndings suggestive of CM-AVM.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"33 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84455382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intraoperative Ultrasound-Guided Resection for Extracranial Arteriovenous Malformations of the Head and Neck 术中超声引导下头颈部颅外动静脉畸形切除术
Journal of vascular anomalies Pub Date : 2022-11-23 DOI: 10.1097/jova.0000000000000056
G. Colletti, R. Nocini, Linda Rozell-Shannon, L. Chiarini, A. Anesi, M. Dessy
{"title":"Intraoperative Ultrasound-Guided Resection for Extracranial Arteriovenous Malformations of the Head and Neck","authors":"G. Colletti, R. Nocini, Linda Rozell-Shannon, L. Chiarini, A. Anesi, M. Dessy","doi":"10.1097/jova.0000000000000056","DOIUrl":"https://doi.org/10.1097/jova.0000000000000056","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90091108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Large Cervicofacial Vascular Anomaly, a Difficult Case 颈面大血管异常，疑难病例
Journal of vascular anomalies Pub Date : 2022-11-02 DOI: 10.1097/jova.0000000000000051
Liam Gallagher, Vivek C. Pandrangi, C. MacArthur
{"title":"Large Cervicofacial Vascular Anomaly, a Difficult Case","authors":"Liam Gallagher, Vivek C. Pandrangi, C. MacArthur","doi":"10.1097/jova.0000000000000051","DOIUrl":"https://doi.org/10.1097/jova.0000000000000051","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"42 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89581488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characterization of the Conversion of Meeting Presentation to Publication From the 2016 and 2018 ISSVA Workshops 2016年和2018年ISSVA研讨会会议报告向出版物转换的特征
Journal of vascular anomalies Pub Date : 2022-10-25 DOI: 10.1097/jova.0000000000000050
N. Banyi, Sahdev Baweja, Young Ji Tuen, M. Bucevska, J. Arneja
{"title":"Characterization of the Conversion of Meeting Presentation to Publication From the 2016 and 2018 ISSVA Workshops","authors":"N. Banyi, Sahdev Baweja, Young Ji Tuen, M. Bucevska, J. Arneja","doi":"10.1097/jova.0000000000000050","DOIUrl":"https://doi.org/10.1097/jova.0000000000000050","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"31 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84565632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Emergence of Low-flow Vascular Malformations After Vaccination Against SARS-CoV-2: A Case Series 接种SARS-CoV-2后低流量血管畸形的临床出现:一个病例系列
Journal of vascular anomalies Pub Date : 2022-09-30 DOI: 10.1097/jova.0000000000000049
A. Gong, Adham Khalil, C. Weiss
{"title":"Clinical Emergence of Low-flow Vascular Malformations After Vaccination Against SARS-CoV-2: A Case Series","authors":"A. Gong, Adham Khalil, C. Weiss","doi":"10.1097/jova.0000000000000049","DOIUrl":"https://doi.org/10.1097/jova.0000000000000049","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"98 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86254060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluating the Use of Atenolol for the Treatment of Infantile Hemangiomas 评价阿替洛尔治疗婴幼儿血管瘤的疗效
Journal of vascular anomalies Pub Date : 2022-09-22 DOI: 10.1097/jova.0000000000000048
Lydia Pathman, Jodie Simpson, A. Penington, R. Phillips
{"title":"Evaluating the Use of Atenolol for the Treatment of Infantile Hemangiomas","authors":"Lydia Pathman, Jodie Simpson, A. Penington, R. Phillips","doi":"10.1097/jova.0000000000000048","DOIUrl":"https://doi.org/10.1097/jova.0000000000000048","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78547033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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