发布求助
文献互助 智能选刊 最新文献

Journal of vascular anomalies最新文献

筛选
英文 中文
Parotid Gland Microcystic Lymphatic Malformation Producing Obstructive Symptoms 产生阻塞症状的腮腺微囊淋巴畸形
Journal of vascular anomalies Pub Date : 2024-02-27 DOI: 10.1097/jova.0000000000000078
Maya Guhan, E. Lambert, Amir Pezeshkmehr, Tara L. Rosenberg
{"title":"Parotid Gland Microcystic Lymphatic Malformation Producing Obstructive Symptoms","authors":"Maya Guhan, E. Lambert, Amir Pezeshkmehr, Tara L. Rosenberg","doi":"10.1097/jova.0000000000000078","DOIUrl":"https://doi.org/10.1097/jova.0000000000000078","url":null,"abstract":"\u0000 \u0000 Salivary gland obstruction can present as unilateral, episodic facial swelling. Vascular malformations as a cause of parotid duct obstruction with associated unilateral cheek swelling and pain are rare.\u0000 \u0000 \u0000 \u0000 We describe the case of a 16-year-old female with a protracted 2-year history of unilateral facial swelling and pain that was misdiagnosed as recurrent parotitis on computed tomography and sialoendoscopy. Eventually, the 16-year-old female was diagnosed by magnetic resonance imaging to have a microcystic lymphatic malformation of the parotid duct as the cause of her cheek swelling and pain. Afterwards, the patient was referred to undergo interstitial bleomycin sclerotherapy.\u0000 \u0000 \u0000 \u0000 This case demonstrates a unique microcystic lymphatic malformation producing obstructive symptoms as well as the utility of magnetic resonance imaging for the diagnosis of a patient presenting with recurrent unilateral facial pain and swelling.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140426586","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
A Novel Likely Pathogenic Variant in NOTCH1 Associated With Primary Lymphedema 与原发性淋巴水肿有关的一种新型NOTCH1可能致病变异体
Journal of vascular anomalies Pub Date : 2024-02-07 DOI: 10.1097/jova.0000000000000082
Lorna Holcroft, Maeve A. Mc Aleer, Alan D. Irvine
{"title":"A Novel Likely Pathogenic Variant in NOTCH1 Associated With Primary Lymphedema","authors":"Lorna Holcroft, Maeve A. Mc Aleer, Alan D. Irvine","doi":"10.1097/jova.0000000000000082","DOIUrl":"https://doi.org/10.1097/jova.0000000000000082","url":null,"abstract":"Lymphedema is a chronic condition characterized by the accumulation of lymphatic fluid in interstitial and fibro-adipose tissues. Primary lymphedema that arises from intrinsic defects in the lymphatic system is a rare form of lymphedema with a variable age of onset and heterogeneous presentation. Although a number of genetic variants have been identified and matched to corresponding phenotypes, a genetic cause for lymphedema is found in less than 30% of individuals with primary lymphedema. Recently, Michelini et al proposed NOTCH1 as a candidate gene for primary lymphedema, having identified missense variants in NOTCH1 in 7 of 235 patients with primary lymphedema for whom no causative gene had previously been identified. We report the case of a young female who developed bilateral primary lower limb lymphedema and on genetic testing was found to have a previously unreported heterozygous frameshift variant in the NOTCH1 gene predicting loss of function.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"30 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139796965","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
A Novel Likely Pathogenic Variant in NOTCH1 Associated With Primary Lymphedema 与原发性淋巴水肿有关的一种新型NOTCH1可能致病变异体
Journal of vascular anomalies Pub Date : 2024-02-07 DOI: 10.1097/jova.0000000000000082
Lorna Holcroft, Maeve A. Mc Aleer, Alan D. Irvine
{"title":"A Novel Likely Pathogenic Variant in NOTCH1 Associated With Primary Lymphedema","authors":"Lorna Holcroft, Maeve A. Mc Aleer, Alan D. Irvine","doi":"10.1097/jova.0000000000000082","DOIUrl":"https://doi.org/10.1097/jova.0000000000000082","url":null,"abstract":"Lymphedema is a chronic condition characterized by the accumulation of lymphatic fluid in interstitial and fibro-adipose tissues. Primary lymphedema that arises from intrinsic defects in the lymphatic system is a rare form of lymphedema with a variable age of onset and heterogeneous presentation. Although a number of genetic variants have been identified and matched to corresponding phenotypes, a genetic cause for lymphedema is found in less than 30% of individuals with primary lymphedema. Recently, Michelini et al proposed NOTCH1 as a candidate gene for primary lymphedema, having identified missense variants in NOTCH1 in 7 of 235 patients with primary lymphedema for whom no causative gene had previously been identified. We report the case of a young female who developed bilateral primary lower limb lymphedema and on genetic testing was found to have a previously unreported heterozygous frameshift variant in the NOTCH1 gene predicting loss of function.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"53 11-12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139856932","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
Bowel Perforation Following Sclerotherapy of a Massive Intra-Abdominal Lymphatic Malformation 腹腔内巨大淋巴畸形硬化疗法后出现肠穿孔
Journal of vascular anomalies Pub Date : 2024-02-06 DOI: 10.1097/jova.0000000000000081
Andrew Baker, Kevin Wong, Laura Gonzales-Krellwitz, Elizabeth Kim, Graham M Strub
{"title":"Bowel Perforation Following Sclerotherapy of a Massive Intra-Abdominal Lymphatic Malformation","authors":"Andrew Baker, Kevin Wong, Laura Gonzales-Krellwitz, Elizabeth Kim, Graham M Strub","doi":"10.1097/jova.0000000000000081","DOIUrl":"https://doi.org/10.1097/jova.0000000000000081","url":null,"abstract":"Lymphatic malformations are vascular anomalies that often arise from congenital defects and can manifest in a variety of locations, including the abdomen. Such lesions are often targeted with sclerotherapy, which has become the first-line treatment due to the limitations of surgical intervention. Sclerotherapy is associated with side effects including local necrosis and edema, with localized tissue destruction seldom reported. Here we describe the case of a neonate female with bowel wall perforation following sclerotherapy with ethanol and doxycycline for macrocystic abdominal lymphatic malformation.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"79 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139860845","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
Bowel Perforation Following Sclerotherapy of a Massive Intra-Abdominal Lymphatic Malformation 腹腔内巨大淋巴畸形硬化疗法后出现肠穿孔
Journal of vascular anomalies Pub Date : 2024-02-06 DOI: 10.1097/jova.0000000000000081
Andrew Baker, Kevin Wong, Laura Gonzales-Krellwitz, Elizabeth Kim, Graham M Strub
{"title":"Bowel Perforation Following Sclerotherapy of a Massive Intra-Abdominal Lymphatic Malformation","authors":"Andrew Baker, Kevin Wong, Laura Gonzales-Krellwitz, Elizabeth Kim, Graham M Strub","doi":"10.1097/jova.0000000000000081","DOIUrl":"https://doi.org/10.1097/jova.0000000000000081","url":null,"abstract":"Lymphatic malformations are vascular anomalies that often arise from congenital defects and can manifest in a variety of locations, including the abdomen. Such lesions are often targeted with sclerotherapy, which has become the first-line treatment due to the limitations of surgical intervention. Sclerotherapy is associated with side effects including local necrosis and edema, with localized tissue destruction seldom reported. Here we describe the case of a neonate female with bowel wall perforation following sclerotherapy with ethanol and doxycycline for macrocystic abdominal lymphatic malformation.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"15 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139801090","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
Significant Experiences Caring for Vascular Anomalies: A Survey of Caregivers and Adult Patients 照顾血管异常患者的重要经历：护理人员和成年患者调查
Journal of vascular anomalies Pub Date : 2024-01-10 DOI: 10.1097/jova.0000000000000083
Anna M. Kerr, Christine Bereitschaft, Jessica Goldberg, Bryan A. Sisk
{"title":"Significant Experiences Caring for Vascular Anomalies: A Survey of Caregivers and Adult Patients","authors":"Anna M. Kerr, Christine Bereitschaft, Jessica Goldberg, Bryan A. Sisk","doi":"10.1097/jova.0000000000000083","DOIUrl":"https://doi.org/10.1097/jova.0000000000000083","url":null,"abstract":"\u0000 \u0000 The goal of the current study was to gain a deeper understanding of the significant experiences that characterize care for vascular anomalies (VAs).\u0000 \u0000 \u0000 \u0000 A total of 166 adult patients and 88 caregivers (N = 254) completed an anonymous online cross-sectional survey about their experiences seeking care for their (or their child’s) vascular anomaly. We used thematic analysis to analyze participants’ responses to 3 open-ended questions asking about the biggest challenges, most memorable positive experiences, and any other significant experiences.\u0000 \u0000 \u0000 \u0000 Participants reported significant healthcare experiences representing 5 primary areas: diagnosis and treatment, healthcare system and logistics, psychosocial consequences, physical consequences, and clinical relationships. The availability of clinical knowledge and information was identified as an overarching theme affecting all 5 categories. The most common negative experiences related to healthcare system and logistics (n = 100). Clinical relationships were commonly identified in both positive (n = 100) and negative (n = 86) experiences.\u0000 \u0000 \u0000 \u0000 Their responses highlighted the value of a well-organized system of care that promotes productive interactions with expert clinicians and connects patients with support organizations. Unfortunately, VA patients and caregivers often experience long diagnostic journeys, fragmented care, and nonproductive interactions with clinicians due to the pervasive lack of information about VAs. The results indicate the need for systemic changes to address these barriers to care for patients with rare diseases.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"6 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139439569","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
Emergency Care for Pediatric and Adult Patients Affected by Complex Vascular Malformations 为受复杂血管畸形影响的儿童和成人患者提供急诊护理
Journal of vascular anomalies Pub Date : 2024-01-08 DOI: 10.1097/jova.0000000000000079
Bryan A. Sisk, Christine Bereitschaft, Jessica Goldberg, Anna M. Kerr
{"title":"Emergency Care for Pediatric and Adult Patients Affected by Complex Vascular Malformations","authors":"Bryan A. Sisk, Christine Bereitschaft, Jessica Goldberg, Anna M. Kerr","doi":"10.1097/jova.0000000000000079","DOIUrl":"https://doi.org/10.1097/jova.0000000000000079","url":null,"abstract":"\u0000 \u0000 To characterize the experiences of patients with vascular malformations (VMs) when seeking care for acute or emergent health needs.\u0000 \u0000 \u0000 \u0000 Semistructured qualitative interviews and survey study.\u0000 \u0000 \u0000 \u0000 National recruitment through patient advocacy groups and multidisciplinary vascular anomaly clinics.\u0000 \u0000 \u0000 \u0000 Adult patients and parents of children with self-reported VM.\u0000 \u0000 \u0000 \u0000 We interviewed 25 young adult patients and 34 parents. We received survey responses from 138 adult patients and 73 parents who answered all items of interest (analytic cohort = 211). Interview participants described negative experiences with emergency care related to 4 themes: (1) delayed or inadequate care, (2) lack of competent, knowledgeable clinicians, (3) lack of collegial collaboration, and (4) insufficient trust of clinicians in parent’s or patient’s knowledge. Patients and parents reported an average of 1.7 and 2.6 VM-related health problems requiring emergent management in the prior year, respectively. In multivariable logistic regression, having at least one acute or emergent problem in the prior year was associated with household income ≥$100 000 (odds ratio = 0.34, 95% confidence interval, 0.17–0.70), but not gender, race, and ethnicity, age, having a VM specialist, or primary care doctor’s knowledge of VMs.\u0000 \u0000 \u0000 \u0000 Many patients with VMs require emergent or acute care for complications of their VM. Patients with lower household incomes are more likely to experience these emergent events. Negative experiences often focused on nonsupportive clinician behaviors. Future studies should develop tools to empower patient self-advocacy and provide high-yield information to nonspecialist clinicians.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"26 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139445945","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
Erratum to Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis 帕克斯-韦伯综合征》勘误：基因型对诊断的贡献
Journal of vascular anomalies Pub Date : 2024-01-08 DOI: 10.1097/jova.0000000000000077
{"title":"Erratum to Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis","authors":"","doi":"10.1097/jova.0000000000000077","DOIUrl":"https://doi.org/10.1097/jova.0000000000000077","url":null,"abstract":"","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"38 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139446223","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
Prenatal Lymphedema: A Genotype-Phenotype Analysis 产前淋巴水肿：基因型-表型分析
Journal of vascular anomalies Pub Date : 2024-01-05 DOI: 10.1097/jova.0000000000000073
Michal Ad, A. Greene
{"title":"Prenatal Lymphedema: A Genotype-Phenotype Analysis","authors":"Michal Ad, A. Greene","doi":"10.1097/jova.0000000000000073","DOIUrl":"https://doi.org/10.1097/jova.0000000000000073","url":null,"abstract":"Primary lymphedema most commonly affects the lower extremities, is progressive, and is not curable. The condition is associated with mutations in approximately 30 genes. Patients usually present with edema during infancy or adolescence. Four of 364 (1%) patients with primary lymphedema in our database were diagnosed by prenatal imaging. Three children did not exhibit lymphedema after birth, 2 had a VEGFC mutation, and 2 exhibited normal lymphatic function by lymphoscintigraphy. Lymphedema identified prenatally is associated with a VEGFC mutation and can resolve postnatally.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"18 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139383991","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
Somatic PIK3CA Variants Are Associated With Eccrine Angiomatous Hamartomas 体细胞PIK3CA变异与肾上腺血管瘤性脂肪瘤有关
Journal of vascular anomalies Pub Date : 2023-11-22 DOI: 10.1097/jova.0000000000000071
Lana Bricknell, Christopher M. Richmond, Romi Das Gupta, Diane Payton, Yun Phua, Roy M. Kimble
{"title":"Somatic PIK3CA Variants Are Associated With Eccrine Angiomatous Hamartomas","authors":"Lana Bricknell, Christopher M. Richmond, Romi Das Gupta, Diane Payton, Yun Phua, Roy M. Kimble","doi":"10.1097/jova.0000000000000071","DOIUrl":"https://doi.org/10.1097/jova.0000000000000071","url":null,"abstract":"Eccrine angiomatous hamartoma (EAH) is a rare vascular anomaly with mixed eccrine and vascular components, typically identified in children. While benign, EAH can cause significant morbidity and be difficult to treat. The aims of this case series were to identify all patients with EAH that have been seen at the Queensland Children’s Hospital and describe their phenotypic and somatic genotypic details, in an effort to contribute to the limiting understanding and literature surrounding this condition. Individuals with EAH were retrospectively identified through engagement in a multidisciplinary vascular anomaly clinic in a tertiary Australian children’s hospital. All individuals had a previous histological diagnosis of EAH. High-read-depth sequencing of a panel of 27 genes known to be associated with vascular anomalies was undertaken on affected tissue. Samples were rereviewed by a senior pathologist and geneticist for this study. Five cases of EAH were identified. All were associated with 1 of 3 somatic PIK3CA variants (c.1633G>A;p.Glu545Lys, c.1624G>A;p.Glu542Lys, and c.3140A>G;p.Histo1047Arg) in low allele fractions. These variants have previously been reported in a range of tumors and vascular anomalies, including PIK3CA-related overgrowth spectrum, but not in EAH. Occurrence of somatic PIK3CA variants in EAH provides evidence for a novel gene-disease association and is plausibly the cause of EAH in some individuals. This finding expands the phenotypic spectrum of PIK3CA, contributes to understanding of the pathophysiology of this rare condition, and may avail molecularly targeted therapy in the future.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"265 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139250090","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
首页 上一页 下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：604180095
Book学术官方微信
小红书