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1.
Interv Cardiol Clin ; 13(3): 307-318, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38839165

RESUMO

Congenital portosystemic shunts (CPSSs) are rare vascular anomalies characterized by abnormal connections between the portal/splanchnic veins and the systemic veins. CPSSs often occur as an isolated congenital anomaly, but they can also coexist with congenital heart disease (CHD). Owing to their myriad consequences on multiple organ systems, familiarity with CPSS is of tremendous importance to the care of patients with CHD. The rationale and timing for interventions to embolize CPSS in this scenario are discussed. Specific shunt embolization techniques are beyond the scope of this article.


Assuntos
Cardiopatias Congênitas , Veia Porta , Malformações Vasculares , Humanos , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/cirurgia , Veia Porta/anormalidades , Malformações Vasculares/diagnóstico , Malformações Vasculares/complicações , Embolização Terapêutica/métodos , Sistema Porta/anormalidades
2.
J Am Coll Radiol ; 21(6S): S310-S325, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38823953

RESUMO

Soft tissue vascular anomalies may be composed of arterial, venous, and/or lymphatic elements, and diagnosed prenatally or later in childhood or adulthood. They are divided into categories of vascular malformations and vascular tumors. Vascular malformations are further divided into low-flow and fast-flow lesions. A low-flow lesion is most common, with a prevalence of 70%. Vascular tumors may behave in a benign, locally aggressive, borderline, or malignant manner. Infantile hemangioma is a vascular tumor that presents in the neonatal period and then regresses. The presence or multiple skin lesions in an infant can signal underlying visceral vascular anomalies, and complex anomalies may be associated with overgrowth syndromes. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.


Assuntos
Sociedades Médicas , Malformações Vasculares , Humanos , Malformações Vasculares/diagnóstico por imagem , Estados Unidos , Medicina Baseada em Evidências , Lactente , Neoplasias Vasculares/diagnóstico por imagem , Neoplasias de Tecidos Moles/diagnóstico por imagem , Recém-Nascido , Criança , Diagnóstico por Imagem/métodos , Hemangioma/diagnóstico por imagem , Guias de Prática Clínica como Assunto
4.
MedEdPORTAL ; 20: 11401, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38716162

RESUMO

Introduction: Vascular anomalies are a spectrum of disorders, including vascular tumors and malformations, that often require multispecialty care. The rarity and variety of these lesions make diagnosis, treatment, and management challenging. Despite the recognition of the medical complexity and morbidity associated with vascular anomalies, there is a general lack of education on the subject for pediatric primary care and subspecialty providers. A needs assessment and the lack of an available standardized teaching tool presented an opportunity to create an educational workshop for pediatric trainees using the POGIL (process-oriented guided inquiry learning) framework. Methods: We developed a 2-hour workshop consisting of an introductory didactic followed by small- and large-group collaboration and case-based discussion. The resource included customizable content for learning assessment and evaluation. Residents completed pre- and posttest assessments of content and provided written evaluations of the teaching session. Results: Thirty-four learners in pediatrics participated in the workshop. Session evaluations were positive, with Likert responses of 4.6-4.8 out of 5 on all items. Pre- and posttest comparisons of four content questions showed no overall statistically significant changes in correct response rates. Learners indicated plans to use the clinical content in their practice and particularly appreciated the interactive teaching forum and the comprehensive overview of vascular anomalies. Discussion: Vascular anomalies are complex, potentially morbid, and often lifelong conditions; multispecialty collaboration is key to providing comprehensive care for affected patients. This customizable resource offers a framework for trainees in pediatrics to appropriately recognize, evaluate, and refer patients with vascular anomalies.


Assuntos
Hemangioma , Internato e Residência , Pediatria , Malformações Vasculares , Humanos , Pediatria/educação , Pediatria/métodos , Internato e Residência/métodos , Malformações Vasculares/diagnóstico , Hemangioma/diagnóstico , Ensino , Aprendizagem Baseada em Problemas/métodos , Avaliação Educacional/métodos , Educação de Pós-Graduação em Medicina/métodos , Currículo
5.
Sci Rep ; 14(1): 11318, 2024 05 17.
Artigo em Inglês | MEDLINE | ID: mdl-38760396

RESUMO

The effect of arterial tortuosity on intracranial atherosclerosis (ICAS) is not well understood. This study aimed to evaluate the effect of global intracranial arterial tortuosity on intracranial atherosclerotic burden in patients with ischemic stroke. We included patients with acute ischemic stroke who underwent magnetic resonance angiography (MRA) and classified them into three groups according to the ICAS burden. Global tortuosity index (GTI) was defined as the standardized mean curvature of the entire intracranial arteries, measured by in-house vessel analysis software. Of the 516 patients included, 274 patients had no ICAS, 140 patients had a low ICAS burden, and 102 patients had a high ICAS burden. GTI increased with higher ICAS burden. After adjustment for age, sex, vascular risk factors, and standardized mean arterial area, GTI was independently associated with ICAS burden (adjusted odds ratio [adjusted OR] 1.33; 95% confidence interval [CI] 1.09-1.62). The degree of association increased when the arterial tortuosity was analyzed limited to the basal arteries (adjusted OR 1.48; 95% CI 1.22-1.81). We demonstrated that GTI is associated with ICAS burden in patients with ischemic stroke, suggesting a role for global arterial tortuosity in ICAS.


Assuntos
Arteriosclerose Intracraniana , Angiografia por Ressonância Magnética , Humanos , Feminino , Masculino , Arteriosclerose Intracraniana/diagnóstico por imagem , Arteriosclerose Intracraniana/patologia , Arteriosclerose Intracraniana/complicações , Idoso , Pessoa de Meia-Idade , AVC Isquêmico/diagnóstico por imagem , AVC Isquêmico/patologia , Fatores de Risco , Artérias Cerebrais/diagnóstico por imagem , Artérias Cerebrais/patologia , Artérias/anormalidades , Instabilidade Articular , Dermatopatias Genéticas , Malformações Vasculares
6.
Laryngorhinootologie ; 103(S 01): S125-S147, 2024 May.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-38697145

RESUMO

Vascular anomalies in the head and neck area are usually rare diseases and pose a particular diagnostic and therapeutic challenge. They are divided into vascular tumours and vascular malformations. A distinction is made between benign tumours, such as infantile haemangioma, and rare malignant tumours, such as angiosarcoma. Vascular malformations are categorised as simple malformations, mixed malformations, large vessel anomalies and those associated with other anomalies. Treatment is interdisciplinary and various modalities are available. These include clinical observation, sclerotherapy, embolisation, ablative and coagulating procedures, surgical resection and systemic drug therapy. Treatment is challenging, as vascular anomalies in the head and neck region practically always affect function and aesthetics. A better understanding of the genetic and molecular biological basis of vascular anomalies has recently led to clinical research into targeted drug therapies. This article provides an up-to-date overview of the diagnosis, clinic and treatment of vascular anomalies in the head and neck region.


Assuntos
Pescoço , Malformações Vasculares , Humanos , Malformações Vasculares/terapia , Malformações Vasculares/diagnóstico , Pescoço/irrigação sanguínea , Cabeça/irrigação sanguínea , Escleroterapia , Comunicação Interdisciplinar , Terapia Combinada , Embolização Terapêutica , Equipe de Assistência ao Paciente , Colaboração Intersetorial , Neoplasias de Cabeça e Pescoço/terapia , Neoplasias de Cabeça e Pescoço/diagnóstico , Hemangioma/terapia , Hemangioma/diagnóstico
7.
J Med Vasc ; 49(2): 103-111, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38697706

RESUMO

Vascular malformations can present with a variety of symptoms and an unpredictable course with the occurrence of wounds. Ulcerations in patients with vascular malformations are fortunately rare. Although few data exist, complications may involve a variety of mechanistic or hemodynamic factors. A rigorous etiological and vascular assessment is therefore essential. In view of the paucity of recommendations, the Wound and Healing Group of the French Society of Vascular Medicine, based on the literature on the subject, presents a number of suggestions for the diagnosis and management of wounds associated with vascular malformations.


Assuntos
Malformações Vasculares , Cicatrização , Humanos , Malformações Vasculares/complicações , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/terapia , Doença Crônica
9.
J Clin Invest ; 134(10)2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-38747293

RESUMO

Molecular characterization of vascular anomalies has revealed that affected endothelial cells (ECs) harbor gain-of-function (GOF) mutations in the gene encoding the catalytic α subunit of PI3Kα (PIK3CA). These PIK3CA mutations are known to cause solid cancers when occurring in other tissues. PIK3CA-related vascular anomalies, or "PIKopathies," range from simple, i.e., restricted to a particular form of malformation, to complex, i.e., presenting with a range of hyperplasia phenotypes, including the PIK3CA-related overgrowth spectrum. Interestingly, development of PIKopathies is affected by fluid shear stress (FSS), a physiological stimulus caused by blood or lymph flow. These findings implicate PI3K in mediating physiological EC responses to FSS conditions characteristic of lymphatic and capillary vessel beds. Consistent with this hypothesis, increased PI3K signaling also contributes to cerebral cavernous malformations, a vascular disorder that affects low-perfused brain venous capillaries. Because the GOF activity of PI3K and its signaling partners are excellent drug targets, understanding PIK3CA's role in the development of vascular anomalies may inform therapeutic strategies to normalize EC responses in the diseased state. This Review focuses on PIK3CA's role in mediating EC responses to FSS and discusses current understanding of PIK3CA dysregulation in a range of vascular anomalies that particularly affect low-perfused regions of the vasculature. We also discuss recent surprising findings linking increased PI3K signaling to fast-flow arteriovenous malformations in hereditary hemorrhagic telangiectasias.


Assuntos
Classe I de Fosfatidilinositol 3-Quinases , Malformações Vasculares , Humanos , Classe I de Fosfatidilinositol 3-Quinases/genética , Classe I de Fosfatidilinositol 3-Quinases/metabolismo , Animais , Malformações Vasculares/genética , Malformações Vasculares/patologia , Malformações Vasculares/fisiopatologia , Malformações Vasculares/metabolismo , Malformações Vasculares/enzimologia , Células Endoteliais/enzimologia , Células Endoteliais/patologia , Células Endoteliais/metabolismo , Estresse Mecânico , Mutação com Ganho de Função , Fosfatidilinositol 3-Quinases/metabolismo , Fosfatidilinositol 3-Quinases/genética , Transdução de Sinais , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Hemangioma Cavernoso do Sistema Nervoso Central/metabolismo , Hemangioma Cavernoso do Sistema Nervoso Central/fisiopatologia , Hemangioma Cavernoso do Sistema Nervoso Central/patologia
10.
Orphanet J Rare Dis ; 19(1): 213, 2024 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-38778413

RESUMO

BACKGROUND: Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, and genetic testing is now part of the diagnostic workup alongside the clinical, radiological and histopathological data. Nonetheless, access to genetic testing is still limited, and there is significant heterogeneity across the approaches used by the diagnostic laboratories, with direct consequences on test sensitivity and accuracy. The clinical utility of genetic testing is expected to increase progressively with improved theragnostics, which will be based on information about the efficacy and safety of the emerging drugs and future molecules. The aim of this study was to make recommendations for optimising and guiding the diagnostic genetic testing for somatic variants in patients with vascular malformations. RESULTS: Physicians and lab specialists from 11 multidisciplinary European centres for vascular anomalies reviewed the genes identified to date as being involved in non-hereditary vascular malformations, evaluated gene-disease associations, and made recommendations about the technical aspects for identification of low-level mosaicism and variant interpretation. A core list of 24 genes were selected based on the current practices in the participating laboratories, the ISSVA classification and the literature. In total 45 gene-phenotype associations were evaluated: 16 were considered definitive, 16 strong, 3 moderate, 7 limited and 3 with no evidence. CONCLUSIONS: This work provides a detailed evidence-based view of the gene-disease associations in the field of vascular malformations caused by somatic variants. Knowing both the gene-phenotype relationships and the strength of the associations greatly help laboratories in data interpretation and eventually in the clinical diagnosis. This study reflects the state of knowledge as of mid-2023 and will be regularly updated on the VASCERN-VASCA website (VASCERN-VASCA, https://vascern.eu/groupe/vascular-anomalies/ ).


Assuntos
Testes Genéticos , Malformações Vasculares , Humanos , Testes Genéticos/métodos , Malformações Vasculares/genética , Malformações Vasculares/diagnóstico , Malformações Vasculares/patologia , Estudos de Associação Genética
11.
Khirurgiia (Mosk) ; (5): 95-100, 2024.
Artigo em Russo | MEDLINE | ID: mdl-38785244

RESUMO

A personalized approach with attention to anamnesis and specific symptoms is necessary in patients with internal carotid artery tortuosity. Neuroimaging (especially before elective surgery) or functional stress tests following ultrasound of supra-aortic vessels may be necessary depending on medical history and complaints. In addition to standard Doppler ultrasound, these patients should undergo rotational and orthostatic transformation tests. We analyze changes in shape and hemodynamic parameters within the tortuosity area in various body positions. This is especially valuable for patients with concomitant carotid artery stenosis. The article presents a clinical case illustrating the importance of such approach.


Assuntos
Artéria Carótida Interna , Estenose das Carótidas , Humanos , Artéria Carótida Interna/diagnóstico por imagem , Artéria Carótida Interna/anormalidades , Artéria Carótida Interna/fisiopatologia , Estenose das Carótidas/fisiopatologia , Estenose das Carótidas/complicações , Estenose das Carótidas/diagnóstico , Estenose das Carótidas/cirurgia , Masculino , Feminino , Pessoa de Meia-Idade , Ultrassonografia Doppler/métodos , Hemodinâmica/fisiologia , Aterosclerose/complicações , Aterosclerose/diagnóstico , Aterosclerose/fisiopatologia , Malformações Vasculares/diagnóstico , Malformações Vasculares/complicações , Malformações Vasculares/fisiopatologia , Idoso , Artérias/anormalidades , Instabilidade Articular , Dermatopatias Genéticas
12.
Khirurgiia (Mosk) ; (5): 146-151, 2024.
Artigo em Russo | MEDLINE | ID: mdl-38785251

RESUMO

The review is devoted to diagnosis and treatment of internal carotid artery tortuosity. The authors consider modern classification, epidemiology and diagnostic options using neuroimaging or ultrasound-assisted functional stress tests depending on medical history and complaints. In addition to standard Doppler ultrasound, rotational and orthostatic tests are advisable due to possible changes of local shape and hemodynamic parameters following body position changes, especially in patients with concomitant atherosclerotic stenosis. Thus, a personalized approach is especially important for treatment and diagnostics of internal carotid artery tortuosity.


Assuntos
Artéria Carótida Interna , Humanos , Artéria Carótida Interna/diagnóstico por imagem , Artéria Carótida Interna/anormalidades , Artéria Carótida Interna/fisiopatologia , Aterosclerose/diagnóstico , Aterosclerose/complicações , Aterosclerose/fisiopatologia , Estenose das Carótidas/fisiopatologia , Estenose das Carótidas/complicações , Estenose das Carótidas/diagnóstico , Ultrassonografia Doppler/métodos , Malformações Vasculares/diagnóstico , Malformações Vasculares/fisiopatologia , Malformações Vasculares/complicações , Artérias/anormalidades , Instabilidade Articular , Dermatopatias Genéticas
13.
Pediatr Ann ; 53(4): e129-e137, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38574074

RESUMO

Vascular anomalies represent a diverse group of disorders of abnormal vascular development or proliferation. Vascular anomalies are classified as vascular tumors and vascular malformations. Significant advances have been made in the understanding of the pathogenesis, natural history, and genetics of vascular anomalies, allowing for improvements in management including targeted molecular therapies. Infantile hemangiomas are the most common vascular tumor of childhood and follow a distinct natural history of proliferation and involution. Although benign, infantile hemangiomas can be associated with important complications. The use of beta-blockers has revolutionized the management of infantile hemangiomas. Other vascular tumors include pyogenic granulomas, congenital hemangiomas, and kaposiform hemangioendotheliomas, among others. Vascular malformations are categorized based on the type of involved vessel, including capillary malformations, venous malformations, lymphatic malformations, arteriovenous malformations, and mixed vascular malformations. Expert multidisciplinary management of vascular anomalies is critical to optimize outcomes in these patients. [Pediatr Ann. 2024;53(4):e129-e137.].


Assuntos
Hemangioendotelioma , Hemangioma , Síndrome de Kasabach-Merritt , Malformações Vasculares , Neoplasias Vasculares , Humanos , Neoplasias Vasculares/diagnóstico , Neoplasias Vasculares/terapia , Malformações Vasculares/diagnóstico , Malformações Vasculares/terapia , Malformações Vasculares/patologia , Hemangioma/diagnóstico , Hemangioma/terapia , Hemangioma/patologia
14.
J Cardiothorac Surg ; 19(1): 175, 2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-38575998

RESUMO

BACKGROUND: The persistent left superior vena cava (PLSVC) is an infrequent vascular variant. PLSVC with absent right superior vena cava, also known as isolated PLSVC, is an exceptionally rare entity. In this case we present a patient with isolated PLSVC draining to coronary sinus, diagnosed incidentally during echocardiography. CASE PRESENTATION: A 35-year-old man underwent a transthoracic echocardiography which showed an enormously dilated coronary sinus. Hand-agitated saline was injected via peripheral intravenous cannulas. The contrast appeared firstly in the coronary sinus before it opacified the right atrium. Since this was also visible by the right antecubital saline injection, it indicated an extremely rare case of PLSVC with the absence of right superior vena cava which was confirmed by cardiac magnetic resonance. CONCLUSIONS: The finding of a distinctively dilated coronary sinus in echocardiography led us to further investigation using agitated saline that revealed an infrequent anomaly termed isolated PLSVC. The in-depth diagnosis of this vascular variant is crucial considering that it may lead to important clinical implications, such as difficulties with central venous access, especially in the current era of a rapid development of cardiac device therapies.


Assuntos
Seio Coronário , Veia Cava Superior Esquerda Persistente , Malformações Vasculares , Masculino , Humanos , Adulto , Veia Cava Superior/diagnóstico por imagem , Veia Cava Superior/anormalidades , Ecocardiografia , Malformações Vasculares/diagnóstico por imagem , Seio Coronário/diagnóstico por imagem , Dilatação Patológica
15.
Arq Bras Oftalmol ; 87(2): e2023, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38655941

RESUMO

Vascular anomalies comprise a wide spectrum of clinical manifestations related to disturbances in the blood or lymph vessels. They correspond to mainly tumors (especially hemangiomas), characterized by high mitotic activity and proliferation of the vascular endothelium, and malformations, endowed with normal mitotic activity and no hypercellularity or changes in the rate of cell turnover. However, the classifications of these lesions go beyond this dichotomy and consist various systems adapted for and by different clinical subgroups. Thus, the classifications have not reached a consensus and have historically caused confusion regarding the nomenclatures and definitions. Cavernous venous malformations of the orbit, previously called cavernous hemangiomas, are the most common benign vascular orbital lesions in adults. Herein, we have compiled and discussed the various evidences, including clinical, radiological, morphological, and molecular evidence that indicate the non-neoplastic nature of these lesions.


Assuntos
Hemangioma Cavernoso , Neoplasias Orbitárias , Humanos , Hemangioma Cavernoso/diagnóstico por imagem , Hemangioma Cavernoso/patologia , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/patologia , Órbita/irrigação sanguínea , Órbita/diagnóstico por imagem , Órbita/patologia , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/patologia
16.
J Am Heart Assoc ; 13(8): e033287, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38563363

RESUMO

BACKGROUND: We aimed to correlate alterations in the rat sarcoma virus (RAS)/mitogen-activated protein kinase pathway in vascular anomalies to the clinical phenotype for improved patient and treatment stratification. METHODS AND RESULTS: This retrospective multicenter cohort study included 29 patients with extracranial vascular anomalies containing mosaic pathogenic variants (PVs) in genes of the RAS/mitogen-activated protein kinase pathway. Tissue samples were collected during invasive treatment or clinically indicated biopsies. PVs were detected by the targeted sequencing of panels of genes known to be associated with vascular anomalies, performed using DNA from affected tissue. Subgroup analyses were performed according to the affected genes with regard to phenotypic characteristics in a descriptive manner. Twenty-five vascular malformations, 3 vascular tumors, and 1 patient with both a vascular malformation and vascular tumor presented the following distribution of PVs in genes: Kirsten rat sarcoma viral oncogene (n=10), neuroblastoma ras viral oncogene homolog (n=1), Harvey rat sarcoma viral oncogene homolog (n=5), V-Raf murine sarcoma viral oncogene homolog B (n=8), and mitogen-activated protein kinase kinase 1 (n=5). Patients with RAS PVs had advanced disease stages according to the Schobinger classification (stage 3-4: RAS, 9/13 versus non-RAS, 3/11) and more frequent progression after treatment (RAS, 10/13 versus non-RAS, 2/11). Lesions with Kirsten rat sarcoma viral oncogene PVs infiltrated more tissue layers compared with the other PVs including other RAS PVs (multiple tissue layers: Kirsten rat sarcoma viral oncogene, 8/10 versus other PVs, 6/19). CONCLUSIONS: This comparison of patients with various PVs in genes of the RAS/MAPK pathway provides potential associations with certain morphological and clinical phenotypes. RAS variants were associated with more aggressive phenotypes, generating preliminary data and hypothesis for future larger studies.


Assuntos
Proteínas Proto-Oncogênicas p21(ras) , Malformações Vasculares , Humanos , Estudos de Coortes , Estudos de Associação Genética , Proteínas Quinases Ativadas por Mitógeno/genética , Mutação , Malformações Vasculares/genética
17.
J Clin Invest ; 134(8)2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38618955

RESUMO

Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%-2% of newborns. Patients with a CM localized on the forehead have an increased risk of developing a neurocutaneous disorder called encephalotrigeminal angiomatosis or Sturge-Weber syndrome (SWS), with complications including seizure, developmental delay, glaucoma, and vision loss. In 2013, a groundbreaking study revealed causative activating somatic mutations in the gene (GNAQ) encoding guanine nucleotide-binding protein Q subunit α (Gαq) in CM and SWS patient tissues. In this Review, we discuss the disease phenotype, the causative GNAQ mutations, and their cellular origin. We also present the endothelial Gαq-related signaling pathways, the current animal models to study CM and its complications, and future options for therapeutic treatment. Further work remains to fully elucidate the cellular and molecular mechanisms underlying the formation and maintenance of the abnormal vessels.


Assuntos
Capilares/anormalidades , Glaucoma , Malformações Vasculares , Recém-Nascido , Animais , Humanos , Modelos Animais , Mutação
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