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Diagnostics
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Vascular Malformations: Diagnosis and Management
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Vascular Malformations: Diagnosis and Management

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 October 2024 | Viewed by 2203

Special Issue Editor

Dr. Jun Zhang

E-Mail Website
Guest Editor
Texas Tech University Health Sciences Center El Paso, El Paso, TX 79409 801, USA
Interests: angiogenesis; tumorigenesis; molecular genetics; molecular biology; biochemistry
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Vascular malformations stem from aberrant development in blood vessels, lymph vessels, veins, or arteries, resulting in rare developmental anomalies. These abnormalities can also be triggered by accidents or hormonal fluctuations, exacerbating the vascular alterations. The significance of this condition lies in its tendency to give rise to a multitude of issues, necessitating the involvement of numerous medical subspecialties for effective management. Dermatology, general surgery, plastic surgery, otolaryngology, hematology, pathology, ophthalmology, orthopedics, physical and occupational therapy, along with social services often play pivotal roles in treating these patients.

To ensure comprehensive patient care and accurate management, established treatment centers bring together these subspecialties. This collaborative approach facilitates precise diagnoses and holistic management plans. In this context, a primary focus emerges on cerebral vascular malformations due to their critical implications. The overarching goal is to generate in-depth discourse on ongoing research related to vascular malformations, particularly emphasizing cerebral vascular anomalies. Such insights contribute to a better understanding of these complex conditions, fostering advancements in their diagnosis and treatment.

Dr. Jun Zhang
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • vascular malformations
  • cerebral vascular anomalies
  • etiology
  • complex conditions
  • diagnosis and treatment

Published Papers (3 papers)

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Research

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11 pages, 262 KiB  
Article
Non-Invasive Assessment of Micro- and Macrovascular Function after Initiation of JAK Inhibitors in Patients with Rheumatoid Arthritis
by Panagiota Anyfanti, Elena Angeloudi, Athanasia Dara, Eleni Pagkopoulou, Georgia-Savina Moysidou, Kleopatra Deuteraiou, Maria Boutel, Eleni Bekiari, Michael Doumas, George D. Kitas and Theodoros Dimitroulas
Diagnostics 2024, 14(8), 834; https://doi.org/10.3390/diagnostics14080834 - 17 Apr 2024
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Abstract
Background: Janus kinase (JAK) inhibitors constitute a novel class of oral biologic disease-modifying antirheumatic drugs for patients with rheumatoid arthritis (RA). However, their use has been associated with increased risk of major cardiovascular events. We investigated whether treatment with JAK inhibitors exerts significant [...] Read more.
Background: Janus kinase (JAK) inhibitors constitute a novel class of oral biologic disease-modifying antirheumatic drugs for patients with rheumatoid arthritis (RA). However, their use has been associated with increased risk of major cardiovascular events. We investigated whether treatment with JAK inhibitors exerts significant alterations in the micro- and microvasculature in RA patients. Methods: Thirteen patients with RA initiating treatment with JAK inhibitors were prospectively studied. Eventually, data from 11 patients who completed the study were analyzed. Procedures were performed at baseline and 3 months after treatment. Nailfold videocapillaroscopy was applied to detect alterations of the dermal capillary network. Participants underwent 24 h ambulatory blood pressure monitoring (Mobil-O-Graph device) for the assessment of blood pressure (both brachial and aortic) and markers of large artery stiffening [pulse wave velocity (PWV), augmentation index] throughout the whole 24 h and the respective day- and nighttime periods. Carotid intima–media thickness was assessed with ultrasound. Results: Three-month treatment with JAK inhibitors was not associated with any differences in brachial and aortic blood pressure, arterial stiffness, and carotid atherosclerosis, with the only exception of nighttime PWV, which was significantly elevated at follow-up. However, three-month treatment with JAK inhibitors induced significant microvascular alterations and increased the total number of capillaroscopic abnormalities. Conclusions: Three-month treatment with JAK inhibitors may exert significant effects on microcirculation as assessed with nailfold videocapillaroscopy, whereas macrovascular structure and function appears largely unaffected. Further research toward this direction may add substantial information to the available literature regarding cardiovascular aspects of JAK inhibitors in RA. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
15 pages, 2442 KiB  
Article
mTOR Pathway Substrates Present High Activation in Vascular Malformations and Significantly Decrease with Age
by Jakub Kopeć, Elżbieta Sałacińska-Łoś, Magdalena Orzechowska, Monika Sokolnicka, Aleksandra Gawłowska-Marciniak and Przewratil Przemysław
Diagnostics 2024, 14(1), 38; https://doi.org/10.3390/diagnostics14010038 - 25 Dec 2023
Viewed by 743
Abstract
Background: Vascular anomalies often result in aesthetic flaws, pain, and impair the quality of life. They require challenging treatments that frequently do not provide the desired results. The mammalian target of rapamycin (mTOR) is directly involved in the development of these malformations. However, [...] Read more.
Background: Vascular anomalies often result in aesthetic flaws, pain, and impair the quality of life. They require challenging treatments that frequently do not provide the desired results. The mammalian target of rapamycin (mTOR) is directly involved in the development of these malformations. However, the exact mechanism behind mTOR dysregulation has not been unambiguously defined. The purpose of this study is to investigate the activation of selected substrates of mTOR to partially assess its involvement in the disease process. Methods: We analyzed tissue samples collected from patients with vascular anomalies treated in our department. We included patients with histopathological diagnoses of lymphatic, venous, capillary malformations, mixed lesions, and a control group of healthy skin samples. We stained the samples using H and E and immunohistochemistry. We used primary antibodies against p70 S6 Kinase, 4EBP1, and p-4EBP1. We graded their color reactions. The statistical analyses were performed using the FactoMineR and factoextra R v.4.1 packages. p-values < 0.05 were considered statistically significant. Results: The analysis of 82 patients showed that healthy tissue vessels expressed lower levels of tested mTOR pathway substrates compared to high activation in vascular malformations. Elevated substrate expression in a comparison between sexes revealed higher P-4EBP1 expression in the female malformation group. We observed a decrease in mTOR substrate expression with age. Conclusion: The higher expression of mTOR substrates in vascular malformations compared to healthy tissue confirms their involvement in abnormal vascular development. Age-related changes in mTOR substrate expression highlight the need for timely intervention. Our study contributes to the understanding of the mTOR signaling pathway in vascular malformations and highlights its potential as a therapeutic target, contributing to personalized medicine. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
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Review

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18 pages, 1930 KiB  
Review
Hereditary Thoracic Aortic Diseases
by Gaia Spaziani, Francesca Chiara Surace, Francesca Girolami, Francesco Bianco, Valentina Bucciarelli, Francesca Bonanni, Elena Bennati, Luigi Arcieri and Silvia Favilli
Diagnostics 2024, 14(1), 112; https://doi.org/10.3390/diagnostics14010112 - 04 Jan 2024
Viewed by 886
Abstract
Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term ‘hereditary thoracic aortic diseases’. The present review aims to summarize this very heterogeneous population’s clinical, genetic, and [...] Read more.
Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term ‘hereditary thoracic aortic diseases’. The present review aims to summarize this very heterogeneous population’s clinical, genetic, and imaging characteristics and to discuss the implications of the diagnosis for clinical counselling (on sports activity or pregnancy), medical therapies and surgical management. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
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