Publications by authors named "Mattassi R"

Objective: The amniotic fluid contains a large population of stem keratinocytes demonstrating minimal immunological rejection. Recent evidence suggests that stem cells from the amniotic fluid can be employed in the field of tissue engineering. In this work we identified precursors of the epithelial cells and expanded them in vitro.

View Article and Find Full Text PDF

Vascular malformations include various disorders characterized by morphological, structural and/or functional alterations of blood and lymph vessels. Most are sporadic, due to somatic mutations. Here, we report a cohort of patients with sporadic and/or unifocal vascular malformations, in whom we carried out next generation sequencing analysis of a panel of genes associated with vascular malformations.

View Article and Find Full Text PDF

Objectives: Arteriovenous malformations (AVM) are the most troublesome vascular malformations to deal with. They tend to behave like low-grade malignancies with infiltrative and disruptive growth. Crucially, the clinical course of an AVM that has been improperly managed is usually characterized by a recurrence that is much more aggressive than the original disease.

View Article and Find Full Text PDF

Introduction: Vascular anomalies encompass an extremely heterogeneous group of congenital abnormalities of the vascular system. They include vascular tumors and malformations and have a prevalence of 4.5%.

View Article and Find Full Text PDF

Syndromes with lymphatic malformations show phenotypic variability within the same entity, clinical features that overlap between different conditions and allelic as well as heterogeneity. The aim of this review is to provide a comprehensive clinical genetic description of lymphatic malformations and the techniques used for their diagnosis, and to propose a flowchart for genetic testing. Literature and database searches were performed to find conditions characterised by lymphatic malformations or the predisposition to lymphedema after surgery, to identify the associated genes and to find the guidelines and genetic tests currently used for the molecular diagnosis of these disorders.

View Article and Find Full Text PDF

Objective: An accurate "molecular" diagnosis and classification of similar but distinct diseases is sometime challenging but often crucial for the definition of the appropriate patient medical management and treatment as well as for genetic counseling and risk assessment in families. The advent of next-generation sequencing (NGS), which analysed all known disease-associated genes in parallel in a cost- and time-effective manner, eased this process of disease definition and also for vascular anomalies that are a heterogeneous group of vascular tumors and congenital circulatory malformations and often characterized by overlapping phenotypes.

Methods: We designed a NGS-based screening of the 25 currently most prevalent genes identified in patients with vascular anomalies with Mendelian inheritance and applied this panel to study the DNA of 150 patients affected with vascular anomalies for autosomal recessive and autosomal dominant variants and to analyse the paired blood and DNA from intralesional biopsy specimens in 17 patients for somatic unbalance.

View Article and Find Full Text PDF

Purpose: The aim of this study was to evaluate complications in patients with head and neck venous malformations (VMs) treated with foam sclerotherapy using sodium tetradecyl sulfate (STS).

Methods: The authors retrospectively evaluated the complications, pain. and degree of satisfaction in 69 consecutive patients affected by cervicofacial VM managed with STS using the Tessari method in a single institution.

View Article and Find Full Text PDF

Venous malformations (VMs) are the most common vascular developmental anomalies (birth defects). These defects are caused by developmental arrest of the venous system during various stages of embryogenesis. VMs remain a difficult diagnostic and therapeutic challenge due to the wide range of clinical presentations, unpredictable clinical course, erratic response to the treatment with high recurrence/persistence rates, high morbidity following nonspecific conventional treatment, and confusing terminology.

View Article and Find Full Text PDF

Venous malformations (VMs) are the most common vascular developmental anomalies (birth defects) . These defects are caused by developmental arrest of the venous system during various stages of embryogenesis. VMs remain a difficult diagnostic and therapeutic challenge due to the wide range of clinical presentations, unpredictable clinical course, erratic response to the treatment with high recurrence/ persistence rates, high morbidity following non-specific conventional treatment, and confusing terminology.

View Article and Find Full Text PDF

Background: Surgical removal of large cervicofacial venous malformations might be hampered by massive intraoperative bleeding. Moreover, these lesions often insinuate within normal surrounding tissue, making complete resection impossible without causing significant morbidity.

Methods: Two patients affected by facial venous malformations nonresponsive to sclerotherapy underwent surgery.

View Article and Find Full Text PDF

Arterio-venous malformations (AVMs) are congenital vascular malformations (CVMs) that result from birth defects involving the vessels of both arterial and venous origins, resulting in direct communications between the different size vessels or a meshwork of primitive reticular networks of dysplastic minute vessels which have failed to mature to become 'capillary' vessels termed "nidus". These lesions are defined by shunting of high velocity, low resistance flow from the arterial vasculature into the venous system in a variety of fistulous conditions. A systematic classification system developed by various groups of experts (Hamburg classification, ISSVA classification, Schobinger classification, angiographic classification of AVMs,) has resulted in a better understanding of the biology and natural history of these lesions and improved management of CVMs and AVMs.

View Article and Find Full Text PDF

Purpose: To study the efficacy and safety of a new sclerosing gel of absolute ethanol in the percutaneous treatment of venous malformations (VM).

Materials And Methods: In this prospective, non-randomized multicenter study patients with clinically and by magnetic resonance imaging diagnosed VM were treated. Efficacy and safety of the gel was evaluated.

View Article and Find Full Text PDF

Primary intraosseous arteriovenous malformations are rare. Many minimally invasive procedures can be considered preoperative steps and/or definitive treatment. The case reported regards a young woman with a voluminous arteriovenous extratroncular infiltrating malformation of the humerus.

View Article and Find Full Text PDF

Because of its extremely powerful sclerosing effect, in our experience, ethanol can be considered the most efficacious agent in the percutaneous treatment of peripheral venous malformations. To reduce the risk of ethanol reflux into the superficial veins or the central venous system, we developed a simple but very efficacious technique. After the time necessary to obtain the sclerosing effect, we drain the ethanol with the same needle used to inject.

View Article and Find Full Text PDF

Congenital vascular bone syndrome (CVBS) is an abnormal enhancement or reduction of growth in long bones due to pathologic circulation during childhood. Several authors have described these clinical pictures with limb lengthening; well known are Klippel and Trenaunay and Parkes-Weber. Later, Servelle and Martorell also described cases of limb length difference, but with shortening of the pathologic limb.

View Article and Find Full Text PDF

The marginal vein, an abnormal superficial vein of the lateral lower limb, is a remnant of primitive embryonic vessels that have failed to regress. According to the extent, topography and sites of connection with the deep veins, five types have been distinguished by Weber. The marginal vein is valveless and may create venous stasis.

View Article and Find Full Text PDF

Aim: The clinical assessment of arteriovenous malformations (AVMs), including treatment response (surgical and/or embolosclerotherapy), has traditionally been done by arteriography, mainly by looking for residual lesions. However, arteriography is disadvantaged as it is an expensive invasive test with high morbidity and provides only limited anatomical information at the qualitative level. Here, transarterial lung perfusion scintigraphy (TLPS), which was developed as a less invasive test for the physiologic assessment of the arteriovenous shunting status of AVM lesions located in the lower extremities, was evaluated for its ability to replace traditional arteriography as a means of following-up treatment results.

View Article and Find Full Text PDF

Aim: Various non- to less-invasive tests have been recently introduced in the management of congenital vascular malformations (CVM) and have become essential for the initial diagnostic work-up, largely replacing the traditional role of invasive tests. Whole body blood pool scintigraphy (WBBPS) was initially adopted as a supplementary test to reinforce other well-established essential diagnostic tests, and has been used extensively together in our Clinic, for years. We have evaluated WBBPS retrospectively for the diagnosis of venous malformation (VM) and arterio-venous malformation (AVM), and also for a further possible role for the interim assessment of treatment results during multistaged embolo/sclerotherapy.

View Article and Find Full Text PDF

Background: Management of arteriovenous malformations (AVMs) remains challenging because of their unpredictable behavior and high recurrence rate. A multidisciplinary approach based on a new classification scheme and improved diagnostic techniques may improve their management. The purpose of this study was to review our experience with combined embolotherapy, sclerotherapy (embolo/sclerotherapy), and surgical procedures to manage AVMs.

View Article and Find Full Text PDF

Congenital vascular-bone syndrome is an alteration in limb growth caused by congenital vascular malformations in childhood. A precise study of the anatomic and hemodynamic nature of the underlying defect is necessary, not only for diagnosis, but also for therapy. The use of old eponyms for diagnosis, such as "Klippel-Trenaunay," "Parkes-Weber," and "Servelle-Martorell" should be abandoned because they are meaningless and misleading.

View Article and Find Full Text PDF

During the last 25 years 170 patients with ruptured aortic aneurysms were treated in our centre for vascular surgery with an overall mortality of 54%. We have subdivided these patients into three groups according to temporal factors: the 1st group includes 16 patients treated in the years 1966-1978; the 2nd group includes 93 patients treated from 1979 to 1987; the 3rd group includes patients from 1988 to 1990. In these years no selection of patients was made and everybody still alive was operated on.

View Article and Find Full Text PDF