Journal of vascular anomalies最新文献_第4页

Music Therapy for Pediatric Pain Management During Bedside Sclerotherapy 音乐疗法用于床旁硬化疗法期间的儿科疼痛控制

Journal of vascular anomalies

Pub Date : 2023-11-13 DOI: 10.1097/jova.0000000000000074

Sheryl Tulin-Silver, Gabriela Asch-Ortiz, D. Tsze

The management of pain is one of the primary concerns when administering sclerotherapy in children with vascular malformations. However, there is currently no standard of care and limited data regarding the effective treatment of pain associated with sclerotherapy. In this case report, we describe the successful management of pain using music therapy in a child undergoing bedside sclerotherapy for a lymphatic malformation. This report is novel in that it demonstrates the effectiveness of music therapy as an individualized integrative approach for providing pain management to children undergoing bedside sclerotherapy.

在对患有血管畸形的儿童进行硬化剂注射治疗时，疼痛的处理是首要考虑的问题之一。然而，目前尚无有效治疗硬化剂注射相关疼痛的护理标准，相关数据也十分有限。在本病例报告中，我们介绍了利用音乐疗法成功治疗一名因淋巴管畸形而接受床旁硬化剂注射治疗的儿童的疼痛情况。本报告的新颖之处在于，它证明了音乐疗法作为一种个性化的综合方法，对接受床旁硬化剂注射疗法的儿童进行疼痛治疗的有效性。

引用次数: 0

Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis 帕克斯-韦伯综合征：基因型对诊断的贡献

Journal of vascular anomalies

Pub Date : 2023-11-13 DOI: 10.1097/jova.0000000000000076

T. A. Andreoti, A. Tuleja, Y. Döring, Massimo Maiolo, André Schaller, Erik Vassella, C. Zweier, L. Boon, M. Vikkula, Jochen Rössler, S. Bernhard, Iris Baumgartner

Parkes Weber syndrome (PWS) is a rare disorder that combines overgrowth, capillary malformations, and arteriovenous malformations (AVM)/arteriovenous fistulas, for which underlying activating mutations in the ras/mitogen-activated protein kinase/extracellular-signal-regulated kinase signaling pathway have been described. The clinical overlap with Klippel-Trenauny syndrome, associated with mutations in PIK3CA, is significant. This case series aimed to elaborate on the phenotypic description of PWS, to underline its clinical overlap with Klippel-Trenauny syndrome and nonsyndromic AVM, and to evaluate the contribution of genotypic characterization to the diagnosis. All patients diagnosed with PWS upon enrollment in the Bernese VAScular COngenital Malformations (VASCOM) cohort were included. The diagnostic criteria of PWS were retrospectively reviewed. A next-generation sequencing (NGS) gene panel (TSO500, Illumina) was used on tissue biopsy samples. Overall, 10/559 patients of the VAScular COngenital Malformations cohort were initially diagnosed with PWS. Three patients were reclassified as nonsyndromic AVM (Kristen Rat Sarcoma Viral oncogene homolog [KRAS], KRAS+tumor protein p53, and protein tyrosine phosphatase non-receptor type 11). Finally, 7 patients fulfilled all clinical diagnostic criteria of PWS. Genetic testing was available in 5 PWS patients. Only 1 patient had the classic RASA1 mutation; another patient had mutations in G protein subunit alpha q (GNAQ) and phosphatase and tensin homolog. In a third case, a PIK3CA mutation was detected. In 2 patients, no mutations were identified. Overgrowth syndromes with vascular malformations are rare and their clinical overlap hampers the classification of individual phenotypes under specific syndrome labels, sometimes even despite genetic testing. To provide optimal patient care, an accurate phenotypic description combined with the identification of molecular targets for precision medicine may be more meaningful than the syndrome classification itself.

帕克斯-韦伯综合征（Parkes Weber Syndrome，PWS）是一种罕见的疾病，集发育过度、毛细血管畸形和动静脉畸形（AVM）/动静脉瘘于一身，其潜在的激活突变发生在ras/介原激活蛋白激酶/细胞外信号调节激酶信号通路中。与PIK3CA突变相关的Klippel-Trenauny综合征的临床重叠非常明显。本病例系列旨在阐述 PWS 的表型描述，强调其与 Klippel-Trenauny 综合征和非综合征 AVM 的临床重叠，并评估基因型特征对诊断的贡献。伯尔尼肌肉先天性畸形（VASCOM）队列中所有被诊断为PWS的患者均被纳入研究。对PWS的诊断标准进行了回顾性审查。在组织活检样本中使用了新一代测序（NGS）基因面板（TSO500，Illumina）。总体而言，VAScular COngenital Malformations 队列中有 10/559 例患者被初步诊断为 PWS。三名患者被重新归类为非综合征性 AVM（克里斯汀鼠肉瘤病毒癌基因同源物 [KRAS]、KRAS+肿瘤蛋白 p53 和蛋白酪氨酸磷酸酶非受体 11 型）。最后，有 7 名患者符合 PWS 的所有临床诊断标准。5 名 PWS 患者接受了基因检测。只有一名患者有典型的RASA1突变；另一名患者有G蛋白亚基αq（GNAQ）和磷酸酶与天丝蛋白同源物的突变。第三个病例检测到了 PIK3CA 突变。有两名患者未发现突变。伴有血管畸形的过度生长综合征非常罕见，其临床表现的重叠性阻碍了将个体表型归入特定的综合征标签下，有时即使进行了基因检测也是如此。为了给患者提供最佳治疗，准确的表型描述结合精准医疗分子靶点的鉴定可能比综合征分类本身更有意义。

{"title":"Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis","authors":"T. A. Andreoti, A. Tuleja, Y. Döring, Massimo Maiolo, André Schaller, Erik Vassella, C. Zweier, L. Boon, M. Vikkula, Jochen Rössler, S. Bernhard, Iris Baumgartner","doi":"10.1097/jova.0000000000000076","DOIUrl":"https://doi.org/10.1097/jova.0000000000000076","url":null,"abstract":"Parkes Weber syndrome (PWS) is a rare disorder that combines overgrowth, capillary malformations, and arteriovenous malformations (AVM)/arteriovenous fistulas, for which underlying activating mutations in the ras/mitogen-activated protein kinase/extracellular-signal-regulated kinase signaling pathway have been described. The clinical overlap with Klippel-Trenauny syndrome, associated with mutations in PIK3CA, is significant. This case series aimed to elaborate on the phenotypic description of PWS, to underline its clinical overlap with Klippel-Trenauny syndrome and nonsyndromic AVM, and to evaluate the contribution of genotypic characterization to the diagnosis. All patients diagnosed with PWS upon enrollment in the Bernese VAScular COngenital Malformations (VASCOM) cohort were included. The diagnostic criteria of PWS were retrospectively reviewed. A next-generation sequencing (NGS) gene panel (TSO500, Illumina) was used on tissue biopsy samples. Overall, 10/559 patients of the VAScular COngenital Malformations cohort were initially diagnosed with PWS. Three patients were reclassified as nonsyndromic AVM (Kristen Rat Sarcoma Viral oncogene homolog [KRAS], KRAS+tumor protein p53, and protein tyrosine phosphatase non-receptor type 11). Finally, 7 patients fulfilled all clinical diagnostic criteria of PWS. Genetic testing was available in 5 PWS patients. Only 1 patient had the classic RASA1 mutation; another patient had mutations in G protein subunit alpha q (GNAQ) and phosphatase and tensin homolog. In a third case, a PIK3CA mutation was detected. In 2 patients, no mutations were identified. Overgrowth syndromes with vascular malformations are rare and their clinical overlap hampers the classification of individual phenotypes under specific syndrome labels, sometimes even despite genetic testing. To provide optimal patient care, an accurate phenotypic description combined with the identification of molecular targets for precision medicine may be more meaningful than the syndrome classification itself.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"232 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139278847","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

Baseline Quality of Life in Low-Flow Head and Neck Vascular Malformations in Children 儿童低流量头颈部血管畸形患者的基线生活质量

Journal of vascular anomalies

Pub Date : 2023-11-08 DOI: 10.1097/jova.0000000000000075

Sean S. Evans, Steven L. Goudy, Ching Siong Tey, R. Swerdlin, C. M. Hawkins

To determine baseline quality of life characteristics in patients with low-flow head and neck vascular malformations. Retrospective review of prospectively collected data. Tertiary Pediatric Hospital. Patients with low-flow head and neck vascular malformations (age 0–18 years) evaluated through our vascular anomalies clinic from 2016 to 2019 were reviewed. Patients with completed PedsQL surveys using parent-proxy reports for children 2–7 years old and both patient and parent-proxy data for patients ≥8 years old were included. In total 94 consecutive patients were included, with a mean age of 9.2 ± 4.7 years. Diagnoses included lymphatic malformations (n = 50), venous malformations (n = 41), and combined venolymphatic malformations (n = 3). Total parental quality of life scores were lower than their children’s (84.23 vs 87.45; P = .037), with lower emotional scores as age at presentation increased (d = −0.60; P < .01). Lower parental scores were also noted across multiple domains for submandibular/sublingual, oropharyngeal, hypopharyngeal, and orbital involvement. (g = −0.68 to −1.10; P < .05). Increasing subsite number involvement affected parents and children similarly (−0.30 vs −0.35; P ≤ .02). Higher physical function scores were noted in venous versus lymphatic malformations (d =−1.07; P = .01). The child-reported school function scores were lower in African-American versus Caucasian children (P = .04). Prior treatment was associated with lower parental scores (d = 0.59; P = .04). The parent and patient’s quality of life is reduced across multiple domains for low-flow head and neck vascular malformations based on age, lesion location and type, disease burden, race, and prior treatment.

确定低流量头颈部血管畸形患者的基线生活质量特征。对前瞻性收集的数据进行回顾性分析。三级儿科医院。对2016年至2019年期间在本院血管畸形门诊接受评估的低流量头颈部血管畸形患者（0-18岁）进行回顾性研究。2-7岁儿童使用家长代理报告完成PedsQL调查，≥8岁患者使用患者和家长代理数据完成PedsQL调查。共纳入了 94 名连续患者，平均年龄为（9.2 ± 4.7）岁。诊断包括淋巴畸形（50 例）、静脉畸形（41 例）和合并静脉淋巴畸形（3 例）。父母的生活质量总分低于子女（84.23 vs 87.45；P = .037），随着发病年龄的增加，父母的情绪得分也降低（d = -0.60；P < .01）。在下颌下/舌下、口咽、咽下和眼眶受累的多个领域中，家长的得分也较低。(g = -0.68 to -1.10; P < .05)。受累亚部位数量的增加对父母和儿童的影响相似（-0.30 vs -0.35；P ≤ .02）。静脉畸形与淋巴畸形相比，身体功能得分更高（d =-1.07; P = .01）。非裔美国儿童与高加索儿童相比，儿童报告的学校功能得分较低（P = .04）。曾接受过治疗的家长得分较低（d = 0.59；P = .04）。根据年龄、病变位置和类型、疾病负担、种族和之前的治疗情况，低流量头颈部血管畸形的家长和患者在多个领域的生活质量都有所下降。

{"title":"Baseline Quality of Life in Low-Flow Head and Neck Vascular Malformations in Children","authors":"Sean S. Evans, Steven L. Goudy, Ching Siong Tey, R. Swerdlin, C. M. Hawkins","doi":"10.1097/jova.0000000000000075","DOIUrl":"https://doi.org/10.1097/jova.0000000000000075","url":null,"abstract":"To determine baseline quality of life characteristics in patients with low-flow head and neck vascular malformations. Retrospective review of prospectively collected data. Tertiary Pediatric Hospital. Patients with low-flow head and neck vascular malformations (age 0–18 years) evaluated through our vascular anomalies clinic from 2016 to 2019 were reviewed. Patients with completed PedsQL surveys using parent-proxy reports for children 2–7 years old and both patient and parent-proxy data for patients ≥8 years old were included. In total 94 consecutive patients were included, with a mean age of 9.2 ± 4.7 years. Diagnoses included lymphatic malformations (n = 50), venous malformations (n = 41), and combined venolymphatic malformations (n = 3). Total parental quality of life scores were lower than their children’s (84.23 vs 87.45; P = .037), with lower emotional scores as age at presentation increased (d = −0.60; P < .01). Lower parental scores were also noted across multiple domains for submandibular/sublingual, oropharyngeal, hypopharyngeal, and orbital involvement. (g = −0.68 to −1.10; P < .05). Increasing subsite number involvement affected parents and children similarly (−0.30 vs −0.35; P ≤ .02). Higher physical function scores were noted in venous versus lymphatic malformations (d =−1.07; P = .01). The child-reported school function scores were lower in African-American versus Caucasian children (P = .04). Prior treatment was associated with lower parental scores (d = 0.59; P = .04). The parent and patient’s quality of life is reduced across multiple domains for low-flow head and neck vascular malformations based on age, lesion location and type, disease burden, race, and prior treatment.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"20 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139282749","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

Pathophysiology of Slow-Flow Vascular Malformations: Current Understanding and Unanswered Questions. 慢血流血管畸形的病理生理学:目前的理解和未解决的问题。

Journal of vascular anomalies

Pub Date : 2023-09-01 DOI: 10.1097/JOVA.0000000000000069

Averill Clapp, Carrie J Shawber, June K Wu

Background: Slow-flow vascular malformations include venous, lymphatic, and lymphaticovenous malformations. Recent studies have linked genetic variants hyperactivating either the PI3K/AKT/mTOR and/or RAS/RAF/MAPK signaling pathways with slow-flow vascular malformation development, leading to the use of pharmacotherapies such as sirolimus and alpelisib. It is important that clinicians understand basic and translational research advances in slow-flow vascular malformations.

Methods: A literature review of basic science publications in slow-flow vascular malformations was performed on Pubmed, using search terms "venous malformation," "lymphatic malformation," "lymphaticovenous malformation," "genetic variant," "genetic mutation," "endothelial cells," and "animal model." Relevant publications were reviewed and summarized.

Results: The study of patient tissues and the use of primary pathogenic endothelial cells from vascular malformations shed light on their pathological behaviors, such as endothelial cell hyperproliferation and disruptions in vessel architecture. The use of xenograft and transgenic animal models confirmed the pathogenicity of genetic variants and allowed for preclinical testing of potential therapies. These discoveries underscore the importance of basic and translational research in understanding the pathophysiology of vascular malformations, which will allow for the development of improved biologically targeted treatments.

Conclusion: Despite basic and translation advances, a cure for slow-flow vascular malformations remains elusive. Many questions remain unanswered, including how genotype variants result in phenotypes, and genotype-phenotype heterogeneity. Continued research into venous and lymphatic malformation pathobiology is critical in understanding the mechanisms by which genetic variants contribute to vascular malformation phenotypic features.

背景:慢流血管畸形包括静脉、淋巴和淋巴静脉畸形。最近的研究将PI3K/AKT/mTOR和/或RAS/RAF/MAPK信号通路过度激活的遗传变异与慢流血管畸形的发展联系起来，导致使用药物治疗，如西罗莫司和alpelisib。临床医生了解慢流血管畸形的基础和转化研究进展是很重要的。方法:通过检索词“静脉畸形”、“淋巴畸形”、“淋巴窝畸形”、“基因变异”、“基因突变”、“内皮细胞”和“动物模型”，在Pubmed上对慢流血管畸形的基础科学出版物进行文献回顾。对相关文献进行了综述。结果:对患者组织的研究和血管畸形的原发致病性内皮细胞的使用揭示了其病理行为，如内皮细胞过度增殖和血管结构破坏。异种移植物和转基因动物模型的使用证实了遗传变异的致病性，并允许对潜在疗法进行临床前测试。这些发现强调了基础研究和转化研究在理解血管畸形病理生理学方面的重要性，这将允许开发改进的生物靶向治疗。结论:尽管在基础和翻译方面取得了进展，但治疗慢流血管畸形仍然难以捉摸。许多问题仍未得到解答，包括基因型变异如何导致表型，以及基因型-表型异质性。对静脉和淋巴畸形病理生物学的持续研究对于理解遗传变异导致血管畸形表型特征的机制至关重要。

{"title":"Pathophysiology of Slow-Flow Vascular Malformations: Current Understanding and Unanswered Questions.","authors":"Averill Clapp, Carrie J Shawber, June K Wu","doi":"10.1097/JOVA.0000000000000069","DOIUrl":"https://doi.org/10.1097/JOVA.0000000000000069","url":null,"abstract":"Background: Slow-flow vascular malformations include venous, lymphatic, and lymphaticovenous malformations. Recent studies have linked genetic variants hyperactivating either the PI3K/AKT/mTOR and/or RAS/RAF/MAPK signaling pathways with slow-flow vascular malformation development, leading to the use of pharmacotherapies such as sirolimus and alpelisib. It is important that clinicians understand basic and translational research advances in slow-flow vascular malformations.Methods: A literature review of basic science publications in slow-flow vascular malformations was performed on Pubmed, using search terms \"venous malformation,\" \"lymphatic malformation,\" \"lymphaticovenous malformation,\" \"genetic variant,\" \"genetic mutation,\" \"endothelial cells,\" and \"animal model.\" Relevant publications were reviewed and summarized.Results: The study of patient tissues and the use of primary pathogenic endothelial cells from vascular malformations shed light on their pathological behaviors, such as endothelial cell hyperproliferation and disruptions in vessel architecture. The use of xenograft and transgenic animal models confirmed the pathogenicity of genetic variants and allowed for preclinical testing of potential therapies. These discoveries underscore the importance of basic and translational research in understanding the pathophysiology of vascular malformations, which will allow for the development of improved biologically targeted treatments.Conclusion: Despite basic and translation advances, a cure for slow-flow vascular malformations remains elusive. Many questions remain unanswered, including how genotype variants result in phenotypes, and genotype-phenotype heterogeneity. Continued research into venous and lymphatic malformation pathobiology is critical in understanding the mechanisms by which genetic variants contribute to vascular malformation phenotypic features.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"4 3","pages":"e069"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9d/56/jv9-4-e069.PMC10473035.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10158198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Estimate of the Prevalence of Vascular Malformations 血管畸形患病率的估计

Journal of vascular anomalies

Pub Date : 2023-07-27 DOI: 10.1097/jova.0000000000000068

A. Penington, R. Phillips, Nerida Sleebs, J. Halliday

To estimate the prevalence of vascular malformations using retrospective data collected from 1999 to 2020 in a specialty vascular anomalies service. The vascular anomalies service associated with the Royal Children’s Hospital provides a reference service to both adults and children, covering the entire state of Victoria, Australia, which has a population of 6.7 million and around 70,000 births per year. A database of patients was interrogated to identify those treated by the service over the study period with a diagnosis of vascular malformation, excluding capillary malformations. A total of 1501 patients were identified, including 1233 with slow-flow malformations and 147 with arteriovenous malformations. Prevalence was calculated as the number of cases born per year who attended the service plus those estimated as yet to attend for assessment, divided by the average number of live births each year. This was calculated for a selected period comprising the years when the numbers were expected to be most stable. The prevalence of slow-flow malformations is estimated to be 1 case per thousand livebirths. Approximate estimates of cases per 100,000 births for individual lesions are: venous malformation 45, lymphatic malformation 35, intramuscular slow-flow malformation 10, complex malformations (Klippel-Trenaunay and CLOVES) 4, glomuvenous malformation 5, and verrucous venous malformation 2. The prevalence of extracranial arteriovenous malformation is estimated to be around one case per 10,000 population. An updated estimate, more accurate than those previously published, of the prevalence of vascular malformations has been obtained.

利用从1999年到2020年收集的回顾性数据估计血管畸形的患病率。与皇家儿童医院相关的血管异常服务为成人和儿童提供参考服务，覆盖澳大利亚整个维多利亚州，该州人口670万，每年约有7万新生儿。一个患者数据库被询问，以确定那些在研究期间被诊断为血管畸形的服务，不包括毛细血管畸形。共发现1501例患者，其中慢流畸形1233例，动静脉畸形147例。流行率的计算方法是每年出生的接受服务的病例数加上估计尚未接受评估的病例数除以每年平均活产数。这是在一个选定的期间计算的，其中包括预期数字最稳定的年份。据估计，慢流畸形的患病率为千分之一。每10万新生儿中，个别病变的病例估计为:静脉畸形45例，淋巴畸形35例，肌肉内慢流畸形10例，复杂畸形(klipppel - trenaunay和CLOVES) 4例，肾小球静脉畸形5例，疣状静脉畸形2例。颅外动静脉畸形的患病率估计约为万分之一。一个更新的估计，比以前发表的更准确，血管畸形的患病率已经获得。

{"title":"Estimate of the Prevalence of Vascular Malformations","authors":"A. Penington, R. Phillips, Nerida Sleebs, J. Halliday","doi":"10.1097/jova.0000000000000068","DOIUrl":"https://doi.org/10.1097/jova.0000000000000068","url":null,"abstract":"\u0000 \u0000 To estimate the prevalence of vascular malformations using retrospective data collected from 1999 to 2020 in a specialty vascular anomalies service.\u0000 \u0000 \u0000 \u0000 The vascular anomalies service associated with the Royal Children’s Hospital provides a reference service to both adults and children, covering the entire state of Victoria, Australia, which has a population of 6.7 million and around 70,000 births per year. A database of patients was interrogated to identify those treated by the service over the study period with a diagnosis of vascular malformation, excluding capillary malformations. A total of 1501 patients were identified, including 1233 with slow-flow malformations and 147 with arteriovenous malformations. Prevalence was calculated as the number of cases born per year who attended the service plus those estimated as yet to attend for assessment, divided by the average number of live births each year. This was calculated for a selected period comprising the years when the numbers were expected to be most stable.\u0000 \u0000 \u0000 \u0000 The prevalence of slow-flow malformations is estimated to be 1 case per thousand livebirths. Approximate estimates of cases per 100,000 births for individual lesions are: venous malformation 45, lymphatic malformation 35, intramuscular slow-flow malformation 10, complex malformations (Klippel-Trenaunay and CLOVES) 4, glomuvenous malformation 5, and verrucous venous malformation 2. The prevalence of extracranial arteriovenous malformation is estimated to be around one case per 10,000 population.\u0000 \u0000 \u0000 \u0000 An updated estimate, more accurate than those previously published, of the prevalence of vascular malformations has been obtained.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88034805","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

Genotype–Phenotype and Genotype–Outcome Analysis of Capillary Malformation–Arteriovenous Malformation 毛细血管畸形-动静脉畸形的基因型-表型和基因型-转归分析

Journal of vascular anomalies

Pub Date : 2023-07-14 DOI: 10.1097/jova.0000000000000052

Yi Sun, Li-xin Su, YunJie Zhang, Zhenfeng Wang, Shijie Chen, H. Gu, Xiaojie Yue, Xiong Zhao, Xi-tao Yang, Deming Wang, X. Fan, R. Cai

Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare autosomal-dominant complex vascular disorder that can be associated with fast-flow vascular malformations (FFVMs). The purpose of this study is to explore the genotype–phenotype and genotype–outcome associations based on a large parallel sequencing of CM-AVM patients to improve the understanding of the development and risk factors for FFVM. A total of 117 patients with CM-AVMs were enrolled in this multicenter cohort study. All patients underwent detailed clinical phenotyping, including age, sex, capillary malformation (CM) size, with or without FFVM, and outcome (Schobinger stage). Next-generation sequencing was performed with peripheral blood and tissue samples. Genotype–phenotype, genotype–outcome, and phenotype–outcome analyses were performed. Germline or mosaic RASA1 variants were the most common cause of CM-AVM, found in 61.5%, with EPHB4 variants in 32.5%. A total of 76.9% of patients had a dominant CM lesion larger than 5 cm. No obvious correlations between genotypes and phenotypes, including sex, age, location, and size of CMs, were found in this cohort. Comparing the patients with FFVMs with those without FFVMs, we found significant differences in age and the size of dominant CM lesions but not in genotype, sex, or location. CM-AVMs can be categorized as complex vascular malformations caused by different gene alterations in the RAS/RAF/MEK pathway. No obvious correlations between genotypes and phenotypes were identified. Critically, the occurrence and progression of FFVM is strongly determined by phenotypes, including age and the size of the dominant CM, rather than genotypes.

毛细血管畸形-动静脉畸形综合征(CM-AVM)是一种罕见的常染色体显性复杂血管疾病，可伴有快血流血管畸形(ffvm)。本研究的目的是通过对CM-AVM患者进行大规模平行测序，探讨基因型-表型和基因型-结局的相关性，以提高对FFVM的发展和危险因素的认识。这项多中心队列研究共纳入了117例cm - avm患者。所有患者都进行了详细的临床表型分析，包括年龄、性别、毛细血管畸形(CM)大小、有无FFVM和结果(Schobinger分期)。外周血和组织样本进行下一代测序。进行基因型-表型、基因型-结果和表型-结果分析。种系或镶嵌型RASA1变异是CM-AVM最常见的病因，占61.5%，EPHB4变异占32.5%。76.9%的患者CM病变大于5 CM。在这个队列中，基因型和表型(包括性别、年龄、位置和CMs大小)之间没有发现明显的相关性。将ffvm患者与非ffvm患者进行比较，我们发现年龄和显性CM病变大小存在显著差异，但基因型、性别或位置没有显著差异。CM-AVMs可归类为RAS/RAF/MEK通路中不同基因改变引起的复杂血管畸形。基因型与表型间无明显相关性。关键的是，FFVM的发生和进展在很大程度上取决于表型，包括年龄和显性CM的大小，而不是基因型。

{"title":"Genotype–Phenotype and Genotype–Outcome Analysis of Capillary Malformation–Arteriovenous Malformation","authors":"Yi Sun, Li-xin Su, YunJie Zhang, Zhenfeng Wang, Shijie Chen, H. Gu, Xiaojie Yue, Xiong Zhao, Xi-tao Yang, Deming Wang, X. Fan, R. Cai","doi":"10.1097/jova.0000000000000052","DOIUrl":"https://doi.org/10.1097/jova.0000000000000052","url":null,"abstract":"\u0000 \u0000 Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare autosomal-dominant complex vascular disorder that can be associated with fast-flow vascular malformations (FFVMs). The purpose of this study is to explore the genotype–phenotype and genotype–outcome associations based on a large parallel sequencing of CM-AVM patients to improve the understanding of the development and risk factors for FFVM.\u0000 \u0000 \u0000 \u0000 A total of 117 patients with CM-AVMs were enrolled in this multicenter cohort study. All patients underwent detailed clinical phenotyping, including age, sex, capillary malformation (CM) size, with or without FFVM, and outcome (Schobinger stage). Next-generation sequencing was performed with peripheral blood and tissue samples. Genotype–phenotype, genotype–outcome, and phenotype–outcome analyses were performed.\u0000 \u0000 \u0000 \u0000 Germline or mosaic RASA1 variants were the most common cause of CM-AVM, found in 61.5%, with EPHB4 variants in 32.5%. A total of 76.9% of patients had a dominant CM lesion larger than 5 cm. No obvious correlations between genotypes and phenotypes, including sex, age, location, and size of CMs, were found in this cohort. Comparing the patients with FFVMs with those without FFVMs, we found significant differences in age and the size of dominant CM lesions but not in genotype, sex, or location.\u0000 \u0000 \u0000 \u0000 CM-AVMs can be categorized as complex vascular malformations caused by different gene alterations in the RAS/RAF/MEK pathway. No obvious correlations between genotypes and phenotypes were identified. Critically, the occurrence and progression of FFVM is strongly determined by phenotypes, including age and the size of the dominant CM, rather than genotypes.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"27 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89149256","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

ISSVA World Congress 2022: The Latest in Vascular Anomalies ISSVA世界大会2022:血管异常的最新进展

Journal of vascular anomalies

Pub Date : 2023-06-01 DOI: 10.1097/jova.0000000000000066

引用次数: 0

The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations. VASCERN-VASCA工作组静脉畸形的诊断和管理途径。

Journal of vascular anomalies

Pub Date : 2023-06-01 DOI: 10.1097/JOVA.0000000000000064

Anne Dompmartin, Eulalia Baselga, Laurence M Boon, Andrea Diociaiuti, Veronika Dvorakova, May El Hachem, Paolo Gasparella, Emir Haxhija, Nader Ghaffarpour, Kristiina Kyrklund, Alan D Irvine, Friedrich G Kapp, Jochen Rößler, Päivi Salminen, Caroline van den Bosch, Carine van der Vleuten, Leo Schultze Kool, Miikka Vikkula

To elaborate expert consensus patient pathways to guide patients and physicians toward efficient diagnostics and management of patients with venous malformations.

Methods: VASCERN-VASCA (https://vascern.eu/) is a European network of multidisciplinary centers for Vascular Anomalies. The Nominal Group Technique was used to establish the pathways. Two facilitators were identified: one to propose initial discussion points and draw the pathways, and another to chair the discussion. A dermatologist (AD) was chosen as first facilitator due to her specific clinical and research experience. The draft was subsequently discussed within VASCERN-VASCA monthly virtual meetings and annual face-to-face meetings.

Results: The Pathway starts from the clinical suspicion of a venous type malformation (VM) and lists the clinical characteristics to look for to support this suspicion. Strategies for subsequent imaging and histopathology are suggested. These aim to inform on the diagnosis and to separate the patients into 4 subtypes: (1) sporadic single VMs or (2) multifocal, (3) familial, multifocal, and (4) combined and/or syndromic VMs. The management of each type is detailed in subsequent pages of the pathway, which are color coded to identify sections on (1) clinical evaluations, (2) investigations, (3) treatments, and (4) associated genes. Actions relevant to all types are marked in separate boxes, including when imaging is recommended. When definite diagnoses have been reached, the pathway also points toward disease-specific additional investigations and recommendations for follow up. Options for management are discussed for each subtype, including conservative and invasive treatments, as well as novel molecular therapies.

Conclusion: The collaborative efforts of VASCERN-VASCA, a network of the 9 Expert Centers, has led to a consensus Diagnostic and Management Pathways for VMs to assist clinicians and patients. It also emphasizes the role of multidisciplinary expert centers in the management of VM patients. This pathway will become available on the VASCERN website (http://vascern.eu/).

制定专家共识的患者路径，指导患者和医生对静脉畸形患者进行有效的诊断和管理。方法:VASCERN-VASCA (https://vascern.eu/)是欧洲血管异常多学科中心网络。采用标称组技术建立神经通路。确定了两位主持人:一位提出初步讨论点并绘制路径，另一位主持讨论。一位皮肤科医生(AD)因其特殊的临床和研究经验而被选为第一位主持人。该草案随后在VASCERN-VASCA每月虚拟会议和年度面对面会议上进行了讨论。结果:该路径从临床怀疑静脉型畸形(VM)开始，列出临床特征来寻找支持这一怀疑。建议后续影像学和组织病理学的策略。这些目的是为诊断提供信息，并将患者分为4种亚型:(1)散发的单个vm或(2)多灶性vm，(3)家族性，多灶性vm和(4)合并和/或综合征性vm。每种类型的管理在路径的后续页面中详细介绍，这些页面用颜色编码来识别(1)临床评估，(2)调查，(3)治疗和(4)相关基因。与所有类型相关的操作在单独的框中进行了标记，包括建议进行成像的操作。当获得明确的诊断时，该途径还指向特定疾病的额外调查和随访建议。讨论了每个亚型的治疗选择，包括保守和侵入性治疗，以及新的分子治疗。结论:VASCERN-VASCA(一个由9个专家中心组成的网络)的共同努力，已经形成了共识的vm诊断和管理途径，以帮助临床医生和患者。它还强调了多学科专家中心在VM患者管理中的作用。该路径将在VASCERN网站(http://vascern.eu/)上提供。

{"title":"The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations.","authors":"Anne Dompmartin, Eulalia Baselga, Laurence M Boon, Andrea Diociaiuti, Veronika Dvorakova, May El Hachem, Paolo Gasparella, Emir Haxhija, Nader Ghaffarpour, Kristiina Kyrklund, Alan D Irvine, Friedrich G Kapp, Jochen Rößler, Päivi Salminen, Caroline van den Bosch, Carine van der Vleuten, Leo Schultze Kool, Miikka Vikkula","doi":"10.1097/JOVA.0000000000000064","DOIUrl":"https://doi.org/10.1097/JOVA.0000000000000064","url":null,"abstract":"To elaborate expert consensus patient pathways to guide patients and physicians toward efficient diagnostics and management of patients with venous malformations.Methods: VASCERN-VASCA (https://vascern.eu/) is a European network of multidisciplinary centers for Vascular Anomalies. The Nominal Group Technique was used to establish the pathways. Two facilitators were identified: one to propose initial discussion points and draw the pathways, and another to chair the discussion. A dermatologist (AD) was chosen as first facilitator due to her specific clinical and research experience. The draft was subsequently discussed within VASCERN-VASCA monthly virtual meetings and annual face-to-face meetings.Results: The Pathway starts from the clinical suspicion of a venous type malformation (VM) and lists the clinical characteristics to look for to support this suspicion. Strategies for subsequent imaging and histopathology are suggested. These aim to inform on the diagnosis and to separate the patients into 4 subtypes: (1) sporadic single VMs or (2) multifocal, (3) familial, multifocal, and (4) combined and/or syndromic VMs. The management of each type is detailed in subsequent pages of the pathway, which are color coded to identify sections on (1) clinical evaluations, (2) investigations, (3) treatments, and (4) associated genes. Actions relevant to all types are marked in separate boxes, including when imaging is recommended. When definite diagnoses have been reached, the pathway also points toward disease-specific additional investigations and recommendations for follow up. Options for management are discussed for each subtype, including conservative and invasive treatments, as well as novel molecular therapies.Conclusion: The collaborative efforts of VASCERN-VASCA, a network of the 9 Expert Centers, has led to a consensus Diagnostic and Management Pathways for VMs to assist clinicians and patients. It also emphasizes the role of multidisciplinary expert centers in the management of VM patients. This pathway will become available on the VASCERN website (http://vascern.eu/).","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"4 2","pages":"e064"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10275493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10035947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

RAND/UCLA Modified Delphi Panel on the Severity, Testing, and Medical Management of PIK3CA-Related Spectrum Disorders (PROS) RAND/UCLA关于pik3ca相关谱系障碍(PROS)的严重程度、检测和医疗管理的修正德尔菲小组

Journal of vascular anomalies

Pub Date : 2023-05-31 DOI: 10.1097/jova.0000000000000067

M. Broder, D. Adams, G. Canaud, Christy Collins, Kristen Davis, I. Frieden, S. Gibbs, A. Hammill, K. Keppler-Noreuil, Taizo A Nakano, Anthony Penington, S. Srivastava, M. Tollefson, M. Warman

mutation and medical therapy in 217 patient scenarios before a virtual meeting. Panelists discussed areas of disagreement and completed ratings following the meeting. Results: The panel developed clinical presentations and endorsed the disease severity framework defined by functional impairment, a reduction in quality of life, and risk of death. Panelists agreed it is appropriate to test for a PIK3CA gene variant in every mod-erately/severely affected patient. Panelists agreed it may be appropriate to consider an mammalian (mechanistic) target of rapamycin inhibitor in some severely affected patients and some moderately affected patients with progressive disease. Although clinical trials have only recently begun and the evidence remains limited, panelists also agreed it may be appropriate to consider treatment with phosphoinositide 3-kinase/serine/threonine protein kinase inhibitors in severely affected patients with a confirmed PIK3CA variant or without a confirmed variant but with progressive disease. Conclusion: These recommendations represent the consensus of experts informed by published literature and experience. Future research should validate this guidance using clinical data. Once validated, we hope these recommendations will improve outcomes for patients with PROS.

在虚拟会议之前，217个病人场景中的突变和药物治疗。小组成员讨论了存在分歧的领域，并在会议结束后完成了评分。结果:专家组制定了临床表现，并认可了由功能损害、生活质量下降和死亡风险定义的疾病严重程度框架。小组成员一致认为，在每个中度/重度感染患者中检测PIK3CA基因变异是合适的。小组成员一致认为，在一些严重影响患者和一些中度影响的进行性疾病患者中，考虑雷帕霉素抑制剂的哺乳动物(机制)靶点可能是合适的。尽管临床试验最近才开始，证据仍然有限，但专家小组成员也同意，对于确诊PIK3CA变异或未确诊PIK3CA变异但疾病进展的严重患者，考虑使用磷酸肌苷3-激酶/丝氨酸/苏氨酸蛋白激酶抑制剂治疗可能是合适的。结论:这些建议代表了专家根据已发表的文献和经验得出的共识。未来的研究应该使用临床数据来验证这一指导。一旦得到验证，我们希望这些建议能够改善PROS患者的预后。

{"title":"RAND/UCLA Modified Delphi Panel on the Severity, Testing, and Medical Management of PIK3CA-Related Spectrum Disorders (PROS)","authors":"M. Broder, D. Adams, G. Canaud, Christy Collins, Kristen Davis, I. Frieden, S. Gibbs, A. Hammill, K. Keppler-Noreuil, Taizo A Nakano, Anthony Penington, S. Srivastava, M. Tollefson, M. Warman","doi":"10.1097/jova.0000000000000067","DOIUrl":"https://doi.org/10.1097/jova.0000000000000067","url":null,"abstract":"mutation and medical therapy in 217 patient scenarios before a virtual meeting. Panelists discussed areas of disagreement and completed ratings following the meeting. Results: The panel developed clinical presentations and endorsed the disease severity framework defined by functional impairment, a reduction in quality of life, and risk of death. Panelists agreed it is appropriate to test for a PIK3CA gene variant in every mod-erately/severely affected patient. Panelists agreed it may be appropriate to consider an mammalian (mechanistic) target of rapamycin inhibitor in some severely affected patients and some moderately affected patients with progressive disease. Although clinical trials have only recently begun and the evidence remains limited, panelists also agreed it may be appropriate to consider treatment with phosphoinositide 3-kinase/serine/threonine protein kinase inhibitors in severely affected patients with a confirmed PIK3CA variant or without a confirmed variant but with progressive disease. Conclusion: These recommendations represent the consensus of experts informed by published literature and experience. Future research should validate this guidance using clinical data. Once validated, we hope these recommendations will improve outcomes for patients with PROS.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"34 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88050505","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

MAP2K1 Mutation in Zebrafish Endothelial Cells Causes Arteriovenous Shunts Preventable by MEK Inhibition. 斑马鱼内皮细胞MAP2K1突变导致MEK抑制可预防动静脉分流。

Journal of vascular anomalies

Pub Date : 2023-03-01 DOI: 10.1097/jova.0000000000000063

Christopher L Sudduth, Nicola Blum, Patrick J Smits, Yu Sheng Cheng, Matthew P Vivero, Matthew P Harris, Nathan D Lawson, Arin K Greene

Objectives: Arteriovenous malformation (AVM) is a congenital lesion with a nidus of irregular blood vessels connecting arteries to veins instead of a normal capillary bed. Somatic MAP2K1 activating mutations in endothelial cells cause extracranial AVM. The purpose of this study was to create a MAP2K1 AVM animal model using zebrafish and to test pharmacotherapy.

Methods: Single-cell casper Tg(gata1a:DsRed) zebrafish embryos were injected with plasmid DNA (control [pTol2-Fli:GFP]; mutant [pTol2-Fli:GFP-kdrl:MAP2K1^K57N]) and Tol2 transposase mRNA to mosaically express activated MAP2K1 in endothelial cells. Two cohorts of fish were examined: group 1 (n = 161) established phenotypes and group 2 (n = 126) tested MEK inhibition. Blood flow was visualized using DsRed fluorescence of erythrocytes. Embryos were imaged 72 hours postfertilization.

Results: Group 1 exhibited abnormal arteriovenous shunts in 58 of 96 (60%) embryos expressing MAP2K1^K57N in endothelial cells. Shunts occurred between the proximal aorta and common cardinal vein (n = 39; 67%) or between the major artery and vein within the trunk or tail (n = 19; 33%). Shunts were not present in control zebrafish (n = 65). MEK inhibition reduced shunt frequency caused by endothelial MAP2K1^K57N expression in group 2 from 84% to 55% (0.2 μM) or 25% (0.4 μM) (P = .006).

Conclusions: Zebrafish endothelial cells expressing mutant MAP2K1 form abnormal arteriovenous shunts supporting the causality of the variant in human AVMs. MEK inhibition reduced shunt formation validating its potential efficacy as a pharmacotherapeutic option for AVM. This zebrafish model may be used for further study of the etiopathogenesis of AVM as well as to test drugs.

目的：动静脉畸形（AVM）是一种先天性病变，具有连接动静脉的不规则血管病灶，而不是正常的毛细血管床。内皮细胞的体细胞MAP2K1激活突变导致颅外AVM。本研究的目的是利用斑马鱼建立MAP2K1 AVM动物模型并测试药物治疗。方法：将单细胞casper Tg（gata1a:DsRed）斑马鱼胚胎注射质粒DNA（对照[pTol2-Fli:GFP]；突变体[pTol2-Fli:GFP-kdrl:MAP2K1K57N]）和Tol2转座酶mRNA，在内皮细胞中嵌合表达活化的MAP2K1。研究了两组鱼：1组（n = 161）建立了表型，2组（n = 126）测试了MEK抑制。红细胞DsRed荧光显示血流。胚胎在受精后72小时成像。结果：1组96个内皮细胞中表达MAP2K1K57N的胚胎中有58个（60%）出现了异常的动静脉分流。近端主动脉与主静脉之间（n = 39, 67%）或躯干或尾部大动脉与静脉之间（n = 19, 33%）发生分流。对照斑马鱼（n = 65）不存在分流。MEK抑制使2组内皮细胞MAP2K1K57N表达引起的分流频率从84%降至55% （0.2 μM）或25% (0.4 μM) （P = 0.006）。结论：表达突变MAP2K1的斑马鱼内皮细胞形成异常的动静脉分流，支持该变异在人类avm中的因果关系。MEK抑制减少分流形成，验证其作为AVM药物治疗选择的潜在疗效。该斑马鱼模型可用于AVM发病机制的进一步研究和药物试验。

{"title":"MAP2K1 Mutation in Zebrafish Endothelial Cells Causes Arteriovenous Shunts Preventable by MEK Inhibition.","authors":"Christopher L Sudduth, Nicola Blum, Patrick J Smits, Yu Sheng Cheng, Matthew P Vivero, Matthew P Harris, Nathan D Lawson, Arin K Greene","doi":"10.1097/jova.0000000000000063","DOIUrl":"10.1097/jova.0000000000000063","url":null,"abstract":"Objectives: Arteriovenous malformation (AVM) is a congenital lesion with a nidus of irregular blood vessels connecting arteries to veins instead of a normal capillary bed. Somatic MAP2K1 activating mutations in endothelial cells cause extracranial AVM. The purpose of this study was to create a MAP2K1 AVM animal model using zebrafish and to test pharmacotherapy.Methods: Single-cell casper Tg(gata1a:DsRed) zebrafish embryos were injected with plasmid DNA (control [pTol2-Fli:GFP]; mutant [pTol2-Fli:GFP-kdrl:MAP2K1K57N]) and Tol2 transposase mRNA to mosaically express activated MAP2K1 in endothelial cells. Two cohorts of fish were examined: group 1 (n = 161) established phenotypes and group 2 (n = 126) tested MEK inhibition. Blood flow was visualized using DsRed fluorescence of erythrocytes. Embryos were imaged 72 hours postfertilization.Results: Group 1 exhibited abnormal arteriovenous shunts in 58 of 96 (60%) embryos expressing MAP2K1K57N in endothelial cells. Shunts occurred between the proximal aorta and common cardinal vein (n = 39; 67%) or between the major artery and vein within the trunk or tail (n = 19; 33%). Shunts were not present in control zebrafish (n = 65). MEK inhibition reduced shunt frequency caused by endothelial MAP2K1K57N expression in group 2 from 84% to 55% (0.2 μM) or 25% (0.4 μM) (P = .006).Conclusions: Zebrafish endothelial cells expressing mutant MAP2K1 form abnormal arteriovenous shunts supporting the causality of the variant in human AVMs. MEK inhibition reduced shunt formation validating its potential efficacy as a pharmacotherapeutic option for AVM. This zebrafish model may be used for further study of the etiopathogenesis of AVM as well as to test drugs.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12442940/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72879057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0