scholarly journals The Efficiency of Sclerotherapy in the Treatment of Vascular Malformations: A Retrospective Study of 63 Patients

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Esko Veräjänkorva ◽  
Riitta Rautio ◽  
Salvatore Giordano ◽  
Ilkka Koskivuo ◽  
Otto Savolainen
Keyword(s):  
Retrospective Study ◽  
Growth And Development ◽  
Congenital Malformations ◽  
Arteriovenous Malformations ◽  
Vascular Malformations ◽  
High Flow ◽  
University Hospital ◽  
Venous Malformations ◽  
Duration Of Treatment ◽  
Satisfactory Clinical Response

Background and Aims. Vascular malformations are a vast group of congenital malformations that are present at birth. These malformations can cause pain, pressure, and cosmetic annoyance as well as downturn growth and development in a child in the case of high flow. Sclerotherapy has become an important tool in the treatment of vascular malformations. However, little is known about the success rate of sclerotherapy. Material and Methods. In this study, the efficiency of sclerotherapy in the treatment of vascular anomalies was investigated retrospectively in 63 patients treated in Turku University Hospital between 2003 and 2013. Results. Out of the 63 patients investigated, 83% (53) had venous malformations (VMs) and 9% (5) were defined as having arteriovenous malformations (AVMs). Patients with a VM were operated on, in 14% (8) out of all VM cases. Hence 86% (45) of patients with a VM received adequate help to their symptoms solely from sclerotherapy. The duration of treatment for the 14% of the VM patients that needed a surgical procedure was prolonged by 7–9 months, that is, by 41%. Conclusions. Sclerotherapy is an effective method in the treatment of VMs with a satisfactory clinical response in patients symptoms in 84% of cases.

scholarly journals Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA

2021 ◽  
Vol 7 (6) ◽  
pp. a006147
Author(s):  
Sarah E. Sheppard ◽  
Victoria R. Sanders ◽  
Abhay Srinivasan ◽  
Laura S. Finn ◽  
Denise Adams ◽  
...  
Keyword(s):  
Arteriovenous Malformations ◽  
Mapk Pathway ◽  
Vascular Malformations ◽  
Lymphatic Vessels ◽  
Catalytic Subunit ◽  
Venous Malformations ◽  
Phosphatidylinositol 3 Kinase ◽  
Complex Disorders ◽  
Pathogenic Variants ◽  
Cerebral Vascular Malformations

Disorganized morphogenesis of arteries, veins, capillaries, and lymphatic vessels results in vascular malformations. Most individuals with isolated vascular malformations have postzygotic (mosaic), activating pathogenic variants in a handful of oncogenes within the PI3K–RAS–MAPK pathway (Padia et al., Laryngoscope Investig Otolaryngol 4: 170–173 [2019]). Activating pathogenic variants in the gene PIK3CA, which encodes for the catalytic subunit of phosphatidylinositol 3-kinase, are present in both lymphatic and venous malformations as well as arteriovenous malformations in other complex disorders such as CLOVES syndrome (congenital, lipomatous, overgrowth, vascular malformations, epidermal anevi, scoliosis) (Luks et al., Pediatr Dev Pathol 16: 51 [2013]; Luks et al., J Pediatr 166: 1048–1054.e1–5 [2015]; Al-Olabi et al., J Clin Invest 128: 1496–1508 [2018]). These vascular malformations are part of the PIK3CA-related overgrowth spectrum, a spectrum of entities that have regionalized disordered growth due to the presence of tissue-restricted postzygotic PIK3CA pathogenic variants (Keppler-Noreuil et al., Am J Med Genet A 167A: 287–295 [2015]). Cerebrofacial vascular metameric syndrome (CVMS; also described as cerebrofacial arteriovenous metameric syndrome, Bonnet–Dechaume–Blanc syndrome, and Wyburn–Mason syndrome) is the association of retinal, facial, and cerebral vascular malformations (Bhattacharya et al., Interv Neuroradiol 7: 5–17 [2001]; Krings et al., Neuroimaging Clin N Am 17: 245–258 [2007]). The segmental distribution, the presence of tissue overgrowth, and the absence of familial recurrence are all consistent with CVMS being caused by a postzygotic mutation, which has been hypothesized by previous authors (Brinjiki et al., Am J Neuroradiol 39: 2103–2107 [2018]). However, the genetic cause of CVMS has not yet been described. Here, we present three individuals with CVMS and mosaic activating pathogenic variants within the gene PIK3CA. We propose that CVMS be recognized as part of the PIK3CA-related overgrowth spectrum, providing justification for future trials using pharmacologic PIK3CA inhibitors (e.g., alpelisib) for these difficult-to-treat patients.

Sonographic and Hysteroscopic Assessment of Uterine Congenital Malformations: A Retrospective Study

2021 ◽  
Vol 5 (3) ◽  
pp. 1-4
Author(s):  
Orestis Tsonis ◽  
Fani Gkrozou ◽  
Evangelos Dimitriou ◽  
Iordanis Navrozoglou ◽  
Minas Paschopoulos
Keyword(s):  
Retrospective Study ◽  
Diagnostic Accuracy ◽  
Predictive Value ◽  
Congenital Malformations ◽  
Endometrial Thickness ◽  
University Hospital ◽  
Transvaginal Sonography ◽  
Office Hysteroscopy ◽  
Sonographic Assessment ◽  
Uterine Malformations

Aim: Congenital uterine malformations are often diagnosed via Transvaginal Sonography (TVS) and/or office hysteroscopy. Few studies address the diagnostic accuracy of both techniques in detecting these abnormalities. The aim of this study is to evaluate sonographic and hysteroscopic findings in women with uterine congenital malformations. Methods and Materials: A nested retrospective study on 137 medical records of women with congenital malformations undergoing vaginoscopic office hysteroscopic and transvaginal sonographic assessment in the Endoscopic Unit, Department of Gynaecology, University Hospital of Ioannina, Greece was conducted. All women were examined initially via Transvaginal Sonography (TVS) and the sonographic findings were correlated with the hysteroscopic findings. Women with septate or bicornuate uteri confirmed their pathology through laparoscopy, a proposed gold standard technique. Result: Hysteroscopy was able to detect 136 out of 137 cases of congenital malformations with a false positive bicornuate uterus. Transvaginal sonography (TVS) showed moderate diagnostic accuracy accompanied by positive predictive value (PPV) at 79.79%, negative predictive value (NPV) at 99.17%, sensitivity at 79.79%, and finally specificity at 99.17%. Endometrial thickness assessed by TVS was found to be higher in cases of complete septate and bicornuate uteri. The incidence of congenital malformation within the total population was estimated at 4.56%. Conclusion: Diagnostic hysteroscopy is a reliable tool in detection uterine congenital malformations compared to two-dimensional sonography. Office hysteroscopy demonstrates high diagnostic accuracy and should replace traditional sonographic assessment in determining congenital uterine malformations. Clinical significance: Hysteroscopy is superior than TVS in detecting uterine congenital malformations.

scholarly journals Periorbital Inner Canthal Arteriovenous Malformations: Percutaneous Glue Embolization in Three Cases

2020 ◽  
Vol 4 (01) ◽  
pp. 55-59
Author(s):  
Krishnan Nagarajan ◽  
Arul A. S. Babu ◽  
Sekar Sabarish ◽  
Swamiappan Elango ◽  
Krishna Ramesh Babu ◽  
...  
Keyword(s):  
Arteriovenous Malformations ◽  
Vascular Malformations ◽  
Surgical Excision ◽  
High Flow ◽  
Embolic Agent ◽  
Cyanoacrylate Glue ◽  
Liquid Embolic ◽  
Liquid Embolic Agent ◽  
Glue Embolization ◽  
Attention To Detail

AbstractInner canthal or palpebral arteriovenous malformations (AVMs) are uncommon and difficult lesions to treat if they are of high-flow type. Though they may present with mainly cosmetic reasons, they derive feeders from the ophthalmic artery and are associated with dangerous anastomoses. Percutaneous liquid embolic agent has been used to treat various head and neck vascular malformations and tumors and, if done in meticulous attention to detail, can offer cure or control before surgical excision. We report three adults who presented with medial canthal swelling and on imaging diagnosed to have high-flow AVMs. They underwent percutaneous n-butyl cyanoacrylate (glue) embolization and subsequently operated to excise the embolized malformation without any blood loss or complications.

scholarly journals Multiple Venous Malformations with Phleboliths: Radiological-Pathological Correlation

2013 ◽  
Vol 3 ◽  
pp. 13 ◽  
Author(s):  
Venkateswara Rao Chava ◽  
Ashwini Naveen Shankar ◽  
Naveen Shankar Vemanna ◽  
Sudheer Kumar Cholleti
Keyword(s):  
Head And Neck ◽  
Clinical Symptoms ◽  
Vascular Malformations ◽  
High Flow ◽  
The Body ◽  
Low Flow ◽  
Venous Malformations ◽  
Congenital Lesions ◽  
The Face ◽  
Histopathologic Findings

Vascular malformations are congenital lesions that are present at birth and do not regress. However, they often present later in life. They are subdivided into two categories: (1) slow- or low-flow and (2) fast- or high-flow malformations. Low-flow malformations contain combinations of capillary, venous, and lymphatic components. Venous malformations can occur anywhere in the body, but are most frequently seen in the head and neck (40%). These lesions present in a variety of ways, from a vague blue patch to a soft blue mass, which may be single isolated or may occur in multiple areas. Treatment depends on the type of lesion, the location, degree of involvement, and the clinical symptoms. Here we are report the imaging and histopathologic findings in a patient with multiple venous malformations affecting the left side of the face and trunk.

Percutaneous sclerotherapy for spongiform venous malformations – analysis of patient-evaluated outcome and satisfaction

VASA ◽  
2017 ◽  
Vol 46 (6) ◽  
pp. 477-483
Author(s):  
Robert Karl Clemens ◽  
Frederic Baumann ◽  
Marc Husmann ◽  
Thomas Oleg Meier ◽  
Christoph Thalhammer ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Medical Records ◽  
Venous Malformation ◽  
Primary Treatment ◽  
Venous Malformations ◽  
Treated Area ◽  
Item Questionnaire ◽  
Percutaneous Sclerotherapy ◽  
Multiple Treatments ◽  
Pain Improvement

Abstract. Background: Congenital venous malformations are frequently treated with sclerotherapy. Primary treatment goal is to control the often size-related symptoms. Functional impairment and aesthetical aspects as well as satisfaction have rarely been evaluated. Patients and methods: Medical records of patients who underwent sclerotherapy of spongiform venous malformations were reviewed and included in this retrospective study. The outcome of sclerotherapy as self-reported by patients was assessed in a 21 item questionnaire. Results: Questionnaires were sent to 166 patients with a total of 327 procedures. Seventy-seven patients (48 %) with a total of 159 procedures (50 %) responded to the survey. Fifty-seven percent of patients were male. The age ranged from 1 to 38.1 years with a median age of 16.4 years. The lower extremities were the most common treated area. Limitations caused by the venous malformation improved in the majority of patients (e.g. pain improvement 87 %, improvement of swelling 83 %) but also worsening of symptoms occurred in a minority of cases. Seventy-seven per cent would undergo sclerotherapy again. Conclusions: Sclerotherapy for treatment of venous malformations results in significant reduction of symptoms. Multiple treatments are often needed, but patients are willing to undergo them.

scholarly journals Involvement of Microglia in the Pathophysiology of Intracranial Aneurysms and Vascular Malformations—A Short Overview

2021 ◽  
Vol 22 (11) ◽  
pp. 6141
Author(s):  
Teodora Larisa Timis ◽  
Ioan Alexandru Florian ◽  
Sergiu Susman ◽  
Ioan Stefan Florian
Keyword(s):  
Immune Cells ◽  
Arteriovenous Malformations ◽  
Intracranial Aneurysms ◽  
Immune Cell ◽  
Vascular Malformations ◽  
Cerebral Injury ◽  
Future Research ◽  
Mortality And Morbidity ◽  
The Central Nervous System ◽  
The Brain

Aneurysms and vascular malformations of the brain represent an important source of intracranial hemorrhage and subsequent mortality and morbidity. We are only beginning to discern the involvement of microglia, the resident immune cell of the central nervous system, in these pathologies and their outcomes. Recent evidence suggests that activated proinflammatory microglia are implicated in the expansion of brain injury following subarachnoid hemorrhage (SAH) in both the acute and chronic phases, being also a main actor in vasospasm, considerably the most severe complication of SAH. On the other hand, anti-inflammatory microglia may be involved in the resolution of cerebral injury and hemorrhage. These immune cells have also been observed in high numbers in brain arteriovenous malformations (bAVM) and cerebral cavernomas (CCM), although their roles in these lesions are currently incompletely ascertained. The following review aims to shed a light on the most significant findings related to microglia and their roles in intracranial aneurysms and vascular malformations, as well as possibly establish the course for future research.

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