vascular anomalies

血管异常
  • 文章类型: Journal Article
    除了听健康新生儿的哭声,分娩室的主治儿科医生宣布孩子是正常的,这给父母带来了最大的快乐。据报道,全球先天畸形儿童的发病率为3%-6%,其中90%以上发生在低收入和中等收入国家。由于多种原因,无法估计需要手术治疗的儿童的确切百分比/总数。这些孩子在几个外科学科下手术,即,pediatrc-,塑料重建,神经-,心胸-,整形外科等.这些情况可能会危及生命,例如,气管-食管瘘,临界肺动脉狭窄,等。需要立即手术干预.一些,例如,脑积水,一旦患者适合手术,可能需要干预。一些,例如,动脉导管未闭需要“等待观察”政策直到一定年龄才能自发恢复。另一个非常重要的类别是根据年龄进行手术干预的患者。几乎所有由整形外科医生护理的先天性异常都在适当的年龄作为选择性手术(许多是矫正的多个阶段)进行手术。不同年龄段的干预措施各有优缺点。在这篇文章中,我们对最佳时机进行了回顾,随着推理,用于整形外科医生治疗的许多常见先天性畸形的手术。产科医生,儿科医生和全科医生/家庭医生,他们通常是第一个遇到这种孩子的人,必须知道适当地引导父母,令人信服地打动他们,为什么他们的孩子不应该立即进行手术,以及过早或过晚的后果。
    Apart from listening to the cry of a healthy newborn, it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents. The global incidence of children born with congenital anomalies has been reported to be 3%-6% with more than 90% of these occurring in low- and middle-income group countries. The exact percentages/total numbers of children requiring surgical treatment cannot be estimated for several reasons. These children are operated under several surgical disciplines, viz, paediatric-, plastic reconstructive, neuro-, cardiothoracic-, orthopaedic surgery etc. These conditions may be life-threatening, e.g., trachea-oesophageal fistula, critical pulmonary stenosis, etc. and require immediate surgical intervention. Some, e.g., hydrocephalus, may need intervention as soon as the patient is fit for surgery. Some, e.g., patent ductus arteriosus need \'wait and watch\' policy up to a certain age in the hope of spontaneous recovery. Another extremely important category is that of patients where the operative intervention is done based on their age. Almost all the congenital anomalies coming under care of a plastic surgeon are operated as elective surgery (many as multiple stages of correction) at appropriate ages. There are advantages and disadvantages of intervention at different ages. In this article, we present a review of optimal timings, along with reasoning, for surgery of many of the common congenital anomalies which are treated by plastic surgeons. Obstetricians, paediatricians and general practitioners/family physicians, who most often are the first ones to come across such children, must know to guide the parents appropriately and convincingly impress upon the them as to why their child should not be operated immediately and also the consequences of too soon or too late.
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  • 文章类型: Case Reports
    动静脉畸形(AVM)是一种罕见的疾病,影响不到5/10,000人,由于其异质性而导致高度误诊,术语不一致,和不同的诊断标准。了解其在该年龄组的患病率对于有效治疗至关重要。在这里,我们介绍了一例AVM患者的病例报告。获得IRB批准和患者同意。这项研究是根据SCARE标准进行的。
    方法:一名53岁女性患者被诊断为右髋部血管肿块,提示AVM。患者报告右髋部无痛肿胀5年,最初的规模增加,但在过去六个月显著增加。病人没有外伤史,神经或盆腔症状,或体质症状。下肢检查显示,非压痛质量约15×15厘米。大腿核磁共振显示相当大,四舍五入,具有间质结构和明显血管分布的分叶状软组织块,指示软组织肿瘤。
    AVM误诊是一个重要问题,40%的软组织肉瘤仍被误诊为延迟护理并导致不必要的措施。2015年的一项研究发现,42.5%的AMV患者被误诊,71%误诊为血管瘤。管理涉及多学科方法,包括放射学,硬化疗法,手术切除,和化疗/放疗。西罗莫司可改善AVM预后。
    结论:AVM的误诊是一个重要问题,40%的软组织肉瘤仍被误诊。管理涉及多学科方法,包括介入放射学,硬化疗法,手术切除,和化疗/放疗。
    UNASSIGNED: Arteriovenous malformation (AVM) is a rare condition affecting less than 5/10,000 people, with high misdiagnosis due to its heterogeneity, inconsistent nomenclature, and diverse diagnostic criteria. Understanding its prevalence in this age group is crucial for effective treatment. Here we present a case report of a patient with AVM. IRB approval and patient consent were obtained. This study was done based on SCARE criteria.
    METHODS: A 53-year-old female patient was diagnosed with a right hip vascular mass suggestive of AVM. The patient reported painless swelling on the right hip for five years, initially increasing in size but significantly increasing in the last six months. The patient had no history of trauma, neurological or pelvic symptoms, or constitutional symptoms. An examination of the lower limbs revealed a firm, non-tender mass measuring approximately 15 × 15 cm. A thigh MRI revealed a sizable, well-rounded, lobulated soft tissue mass with a stromal structure and pronounced vascularity, indicative of a soft tissue tumor.
    UNASSIGNED: AVMs misdiagnosis is a significant issue, with 40 % of soft tissue sarcomas still misdiagnosed delaying care and leading to unnecessary measures. A 2015 study found 42.5 % of AMV patients were misdiagnosed, and 71 % were misdiagnosed as hemangiomas. Management involves multidisciplinary approaches, including radiology, sclerotherapy, surgical resection, and chemo/radiotherapy. Sirolimus may improve AVM prognosis.
    CONCLUSIONS: Misdiagnosis of AVMs is a significant issue, with 40 % of soft tissue sarcomas still misdiagnosed. Management involves multidisciplinary approaches, including interventional radiology, sclerotherapy, surgical resection, and chemo/radiotherapy.
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  • 文章类型: Case Reports
    血管异常,占总人口的4.5%,是血管发育过程中发生的畸变。在儿童中经常发现血管异常,并且经常表现出与神经鞘瘤相似的特征。我们报告了一例16岁男孩的动静脉(AV)畸形(AVM)影响臂丛神经。我们讨论临床特征,诊断,治疗,以及该患者的组织病理学发现,并复习相关文献。
    一个16岁的男孩感到疼痛,感觉异常,肿胀,并降低了手的握力。放射学检查显示,血管病变包裹了C5,C6神经根,并使C7根移位。在保留神经的情况下,几乎完全手术切除了病变。组织病理学证实动静脉AVM畸形具有明显特征。
    高分辨率超声对于诊断软组织血管异常至关重要。精通显微外科技术的外科医生在减少神经缺陷方面起着至关重要的关键作用。在臂丛神经血管畸形的情况下,近完全切除是最有利的选择。
    UNASSIGNED: Vascular anomalies, comprising up to 4.5% of the general population, are aberrations occurring during vascular development. Vascular abnormalities are frequently identified in children and frequently exhibit characteristics similar to nerve sheath tumors. We report a case of 16 years old boy with a arterio-venous (AV) malformation (AVM) affecting the brachial plexus. We discuss the clinical features, diagnosis, treatment, and histopathological findings in this patient and review the relevant literature.
    UNASSIGNED: A 16- year-s old boy presented with pain, paresthesia, swelling, and reduced grip strength of the hand. Radiological investigations revealed a vascular lesion encasing C5, C6 nerve roots and displacing the C7 root. Near total surgical excision of the lesion was done with preservation of nerve. Histopathology confirmed arteriovenous AVMmalformation with distinct features.
    UNASSIGNED: High-resolution ultrasound is crucial for diagnosing soft- tissue vascular anomalies. Surgeons well versed in micro surgical skill play a vital key role in minimizing neural deficits. In the case of vascular malformations of brachial plexus, near total excision is the most favorable option.
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  • 文章类型: Journal Article
    这篇全面的综述探讨了超声评估在诊断和表征外周慢血流血管畸形(PSFVM)中的作用。回顾首先介绍了PSFVM的背景和意义,定义这些血管异常,并强调超声检查在诊断中的重要性。目标侧重于对现有文献的彻底审查,评估超声检查对准确分类至关重要的形态学和血液动力学特征的有效性。关键发现的总结强调了超声检查的诊断准确性,同时承认其局限性。临床实践的意义强调超声检查在早期诊断和术前计划中的实用性,建议整合到多模式方法中。结论强调了标准化标准的必要性,持续教育,和未来的研究,定位超声作为PSFVM综合管理中的宝贵工具。
    This comprehensive review explores the role of sonographic assessment in diagnosing and characterizing peripheral slow-flow vascular malformations (PSFVM). The review begins with an introduction providing the background and significance of PSFVM, defining these vascular anomalies, and emphasizing the importance of sonography in their diagnosis. The objectives focus on a thorough examination of existing literature, assessing the effectiveness of sonography in delineating morphological and hemodynamic features crucial for accurate classification. The summary of key findings highlights the diagnostic accuracy of sonography while acknowledging its limitations. Implications for clinical practice emphasize the practical utility of sonography in early diagnosis and preoperative planning, suggesting integration into multimodal approaches. The conclusion underscores the need for standardized criteria, ongoing education, and future research, positioning sonography as a valuable tool in the comprehensive management of PSFVM.
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  • 文章类型: Journal Article
    全位反位(SIT)是一种罕见的疾病,以镜像解剖为特征,这可能在手术干预中带来独特的挑战和潜在的血管异常,尤其是胃癌患者。
    我们的目的是描述一例SIT患者的胃腺癌的罕见病例,并对现有的有关手术策略的文献进行全面回顾。血管异常,以及在不同的地理区域和技术方法中观察到的结果。
    对一例39岁男性SIT患者进行了全面检查,该患者成功进行了远端胃切除术并进行了D2淋巴结清扫术,并进行了大量文献综述。该评论涵盖47篇文章,整理49例诊断为SIT和胃癌的患者的手术入路和血管异常数据。
    患者在95分钟内接受了根治性远端胃切除术和BillrothII并进行Braun吻合术,发生最小的术中失血(100ml)。术后病理证实为中低分化胃腺癌(pT3N0M0),S-1辅助化疗6个月后无复发或转移迹象。文献综述显示约20%的报告病例血管异常,强调其手术意义。手术策略值得注意的变化,手术时间,失血,观察不同手术方式的并发症,全面了解此类案件的实际管理。
    尽管与SIT相关的固有挑战,通过精心的术前计划和了解血管异常,可以成功应用各种手术技术。这种不同的手术经验的汇编在许多记录的病例中寻求提供一个统一的资源,以完善手术策略和提高SIT胃癌患者的术后结果。强调了在这一生态位领域进行进一步研究的必要性。
    UNASSIGNED: Situs inversus totalis (SIT) is an uncommon disorder characterized by mirror-image anatomy, which can present unique challenges and potential vascular anomalies in surgical interventions, particularly in gastric cancer patients.
    UNASSIGNED: We aim to delineate a rare case of gastric adenocarcinoma in a SIT patient and conduct a thorough review of the existing literature concerning surgical strategies, vascular anomalies, and outcomes observed across varied geographic locales and technological approaches.
    UNASSIGNED: A thorough examination of a case involving a 39-year-old male SIT patient who underwent a successful distal gastrectomy with D2 lymph node dissection is presented alongside an expansive literature review. The review encompasses 47 articles, collating data on surgical approaches and vascular anomalies across 49 patients diagnosed with SIT and gastric cancer.
    UNASSIGNED: The patient underwent curative distal gastrectomy and Billroth II with Braun anastomosis within 95 minutes, incurring minimal intraoperative blood loss (100ml). Postoperative pathology confirmed moderately to poorly differentiated gastric adenocarcinoma (pT3N0M0), with no signs of recurrence or metastasis after 6 months of S-1 adjuvant chemotherapy. The literature review revealed vascular anomalies in approximately 20% of reported cases, accentuating its surgical significance. Noteworthy variations in surgical strategies, operative times, blood loss, and complications across different surgical modalities were observed, providing a comprehensive view into the practical management of such cases.
    UNASSIGNED: Despite the inherent challenges associated with SIT, various surgical techniques can be successfully applied with meticulous preoperative planning and understanding vascular anomalies. This compilation of diverse surgical experiences across numerous documented cases seeks to provide a consolidated resource for refining surgical strategies and enhancing postoperative outcomes for gastric cancer patients with SIT, underscoring the imperativeness of further research in this niche domain.
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  • 文章类型: Case Reports
    血管畸形是由血管生成障碍引起的异常。根据组织学上存在的优势结构,它们可能存在于血管成分的不同组合中,被称为血管淋巴管瘤(HLA)或淋巴管血管瘤(LHA)。HLA发生在多个解剖部位,比如头部和颈部,腋下,腹腔,四肢,和膀胱,但在口腔中很少见。一名18岁的男性,有腹部结核病史,无症状的下颌牙龈肿胀,在组织学上被诊断为HLA。6个月的随访显示无复发。在这种情况下报告的观察结果是不寻常的,我们的文献综述显示,以前没有记录的牙龈HLA病例。
    Vascular malformations are anomalies that are caused by disturbances in vasculogenesis. Depending upon the dominant structure present histologically, they may be found in different combinations of vascular elements and are named hemangiolymphangioma (HLA) or lymphangiohemangioma (LHA). HLA occurs in multiple anatomical sites, such as the head and neck, axilla, abdominal cavity, extremities, and urinary bladder, but it is infrequent in the oral cavity. An 18-year-old male with a history of abdominal tuberculosis presented with an asymptomatic mandibular gingival swelling that was histologically diagnosed as HLA. A six-month follow-up revealed no recurrence. The observations reported in this case are unusual, and our literature review revealed no previously documented case of gingival HLA.
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  • 文章类型: Systematic Review
    目标:最初开发为免疫抑制剂,哺乳动物雷帕霉素靶蛋白(mTOR)抑制剂目前广泛用于血管畸形和肿瘤的治疗。血管异常(VA)人群中感染并发症的发生率尚不明确。这项系统评价的目的是更好地定义mTOR抑制治疗的VAs患者报告的感染并发症的类型和严重程度。
    方法:这是根据PRISMA指南进行的系统评价,评估所有研究文章集中于接受西罗莫司或依维莫司治疗的VAs患者的感染并发症。最终纳入了30篇文章,包括1182例患者和316例感染(291例独特患者)。
    结果:大多数感染是病毒性上呼吸道(n=137,54%),其次是肺炎(n=53,20%),和皮肤感染(n=20,8%)。共有六人与感染有关的全部死亡,这些都发生在2岁以下的患者中。报告2例吉氏肺孢子虫肺炎(PJP)。这些是患有卡波西样血管内皮瘤(KHE)的婴儿,他们也接受了类固醇治疗,未接受PJP预防。根据不良事件通用术语标准(CTCAE)标准,几乎三分之一(n=96,32%)的感染并发症分为3-4级。患者年龄的细节,VA的亚型,许多报告缺乏感染时间。
    结论:在使用mTOR抑制剂的VA患者中报告的大多数感染并发症是病毒性呼吸道感染和非严重的。菌血症,感染性死亡,PJP非常罕见。需要进一步的研究来阐明VA患者的感染风险范围,并为预防感染提供指导。
    OBJECTIVE: Initially developed as immunosuppressive agents, mammalian target of rapamycin (mTOR) inhibitors are currently used widely in the management of vascular malformations and tumors. The incidence of infectious complications in the vascular anomalies (VA) population is not well defined. The goal of this systematic review was to better define the types and severity of reported infectious complications in patients with VAs treated with mTOR inhibition.
    METHODS: This was a systematic review conducted following PRISMA guidelines evaluating all research articles focused on infectious complications in patients with VAs treated with sirolimus or everolimus. Thirty articles including 1182 total patients and 316 infections (in 291 unique patients) were ultimately included.
    RESULTS: The majority of infections were viral upper respiratory (n = 137, 54%), followed by pneumonia (n = 53, 20%), and cutaneous infections (n = 20, 8%). There were six total infection-related fatalities, which all occurred in patients younger than 2 years. Two cases of Pneumocystis jirovecii pneumonia (PJP) were reported. These were infants with kaposiform hemangioendothelioma (KHE) who were also treated with steroids and did not receive PJP prophylaxis. Almost one-third (n = 96, 32%) of infectious complications were graded 3-4 according to Common Terminology Criteria for Adverse Events (CTCAE) criteria. Details of patient age, subtype of VA, and timing of infection were lacking from many reports.
    CONCLUSIONS: Most infectious complications reported in patients with VA on mTOR inhibitors were viral respiratory infections and non-severe. Bacteremia, infectious fatalities, and PJP are exceedingly rare. Future studies are needed to clarify the spectrum of infectious risks in VA patients and to provide guidance for infection prevention.
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  • 文章类型: Journal Article
    血管异常(VA)可以存在于任何器官中;然而,皮肤是最大的,在那里,其中许多是明显的;有些在出生时是可见的,其他人一生都在发展。儿科皮肤科医生经过专门的培训,可以区分VAs和他们的模仿者,需要不同的治疗方法,可能有不同的预后。我们在血管异常诊所恢复儿科皮肤科医生的诊断和治疗任务,以及VAs模拟者的鉴别诊断。
    Vascular anomalies (VAs) can be present in any organ; however, the skin being the largest one, it is there where many of them are evident; some are visible at birth, others develop throughout life. Pediatric dermatologists are specially trained to distinguish VAs from their mimickers, which require different treatments and may harbor distinct prognoses. We resume the diagnostic and therapeutic tasks of pediatric dermatologist at our vascular anomaly clinics, as well as the differential diagnoses of mimickers of VAs.
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  • 文章类型: Systematic Review
    背景:血管异常(VAs)越来越多地使用PI3K/AKT/mTOR通路抑制剂治疗。这些药物具有免疫抑制特性,因此理论上使患者过度感染机会性感染,特别是肺孢子虫肺炎(PJP)。PJP预防使用缺乏共识。我们旨在调查接受mTOR/PI3K/AKT抑制剂治疗VAs的患者中PJP的患病率,并确定该人群中预防肺囊虫的适应症。
    方法:该研究分为两个部分:(1)我们向VAs的国际专家小组发送了一项调查,询问他们使用肺孢子虫预防药物的情况;(2)我们对所有已发表的接受这些药物治疗VA的患者的文献进行了系统回顾,以估计该人群中PJP的患病率。
    结果:分析了来自68位专家的答案:21位(30.9%)回答说,他们在处方mTOR抑制剂时总是添加PJP预防,20例(29.4%),和27(39.7%)从未。对于系统审查,在筛选的3053份报告中,包括217名患者,涉及1189名患者(1143名患者接受了西罗莫司,38依维莫司,4alpelisib,4miransertib)。在1189起案件中,2(0.2%)PJP被报道:一个在西罗莫司和一个在依维莫司。因此,在西罗莫司治疗下,PJP的患病率估计为0.88例/1,000例(95%CI:-0.84~2.59),在依维莫司治疗下,PJP的患病率估计为26.31例/1,000例(95%CI:-24.58~77.18).PJP患者从未接受过预防药物。我们没有发现alpelisib和miransertib下的PJP病例。在218例(18.3%)病例中进行了PJP预防,更常见的儿童(91.3vs.非预防组77.2%,p=0.012),主要是甲氧苄啶-磺胺甲恶唑(186名患者,85.3%)。
    结论:我们的研究表明,即使PJP是罕见事件,它可能发生在接受mTOR抑制剂治疗的VAs患者中。虽然我们的结果不能允许修改指导方针,TMP-SMX预防可能适用于有PJP危险因素的患者亚组.
    BACKGROUND: Vascular anomalies (VAs) are increasingly being treated with PI3K/AKT/mTOR pathway inhibitors. These drugs have immunosuppressive properties and thus theoretically overexpose patients to opportunistic infections, especially Pneumocystis jirovecii pneumonia (PJP). PJP prophylaxis use lacks consensus. We aimed to investigate the prevalence of PJP in patients receiving mTOR/PI3K/AKT inhibitors for VAs and determine any indication for pneumocystis prophylaxis in this population.
    METHODS: The study was conducted in 2 parts: (1) we sent a survey to a panel of international experts of VAs asking about their use of pneumocystis prophylaxis drugs and (2) we performed a systematic review of the literature of all published cases of patients receiving these drugs for VA to estimate the prevalence of PJP in this population.
    RESULTS: Answers from 68 experts were analyzed: 21 (30.9%) answered they always add PJP prophylaxis when prescribing mTOR inhibitors, 20 (29.4%) case-by-case, and 27 (39.7%) never. For the systematic review, among 3,053 reports screened, 217 were included involving 1,189 patients (1,143 received sirolimus, 38 everolimus, 4 alpelisib, 4 miransertib). Among the 1,189 cases, 2 (0.2%) PJP were reported: one under sirolimus and one under everolimus. Thus, the prevalence of PJP was estimated at 0.88 cases/1,000 patients under sirolimus (95% CI: -0.84 to 2.59) and 26.31 cases/1,000 under everolimus (95% CI: -24.58 to 77.18). Patients with PJP never received prophylaxis drugs. We found no PJP cases under alpelisib and miransertib. PJP prophylaxis was given in 218 (18.3%) cases, more frequently for children (91.3 vs. 77.2% in the non-prophylaxis group, p = 0.012), mostly trimethoprim-sulfamethoxazole (186 patients, 85.3%).
    CONCLUSIONS: Our study shows that even if PJP is a rare event, it may occur in patients with VAs treated with an mTOR inhibitor. Although our results cannot allow for revising guidelines, prophylaxis with TMP-SMX might be appropriate for a subgroup of patients with risk factors for PJP.
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  • 文章类型: Journal Article
    由于表现的异质性,在儿科人群中,舌静脉畸形的管理可能具有挑战性。参与程度和功能妥协。重要的是认识到各种治疗选择的价值,以便以个性化的方式指导每个患者的管理。在这里,我们描述了一系列使用不同方式进行管理的舌静脉畸形患者,以说明每种技术的相对益处和风险。静脉畸形治疗的挑战可以通过调整每个患者和畸形的方法来缓解。本病例系列还强调了在多学科血管异常团队中工作的必要性和重要性。
    Management of tongue venous malformations can be challenging in the pediatric population due to their heterogeneity in presentation, extent of involvement and functional compromise. It is important to recognize the value of various treatment options in order to guide management of each patient in an individualized fashion. Here we describe a series of patients with tongue venous malformations that are managed using diverse modalities to illustrate the relative benefits and risks of each technique. The challenges of venous malformation treatment can be mitigated by tailoring the approach to each individual patient and malformation. This case series also emphasizes the need and importance of working in the setting of a multidisciplinary vascular anomalies team.
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