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1.
Int Angiol ; 42(2): 89-189, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36930179

RESUMO

Published scientific evidence demonstrate the current spread of healthcare misinformation in the most popular social networks and unofficial communication channels. Up to 40% of the medical websites were identified reporting inappropriate information, moreover being shared more than 450,000 times in a 5-year-time frame. The phenomenon is particularly spread in infective diseases medicine, oncology and cardiovascular medicine. The present document is the result of a scientific and educational endeavor by a worldwide group of top experts who selected and analyzed the major issues and related evidence-based facts on vein and lymphatic management. A section of this work is entirely dedicated to the patients and therefore written in layman terms, with the aim of improving public vein-lymphatic awareness. The part dedicated to the medical professionals includes a revision of the current literature, summing up the statements that are fully evidence-based in venous and lymphatic disease management, and suggesting future lines of research to fulfill the still unmet needs. The document has been written following an intense digital interaction among dedicated working groups, leading to an institutional project presentation during the Universal Expo in Dubai, in the occasion of the v-WINter 2022 meeting.


Assuntos
Comunicação , Gerenciamento Clínico , Humanos
2.
Eur J Vasc Endovasc Surg ; 65(3): 414, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36336282
8.
Int Angiol ; 38(2): 157-170, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30938497

RESUMO

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%. Vascular anomalies are frequently sporadic and associated with somatic mutations and/or a double-hit mechanism and are characterized by considerable phenotypic and genetic heterogeneity. The aim of this review was to provide a genetic description of vascular anomalies, the sequencing technologies used for their diagnosis and the drugs that may potentially be used for their treatment. EVIDENCE ACQUISITION: PubMed, OMIM, Orphanet, Genetic Testing Registry and ClinicalTrials.gov were searched for monogenic vascular anomalies in order to evaluate the genetic tests (based on sequencing) currently used for their diagnosis, and for any drugs that could be useful to treat them. EVIDENCE SYNTHESIS: From the search of the clinical synopsis section of OMIM and PubMed for vascular anomalies we selected 19 disorders with a known molecular etiology. From the search for pharmacological trials and therapies in the ClinicalTrials.gov and PubMed databases we selected 87 drugs. CONCLUSIONS: Most genetic tests with validated clinical utility are based on a next generation sequencing (NGS) approach. Targeted NGS is indeed the best approach for the analysis of disorders with complex phenotypes and genetics and involvement of somatic mutations. Genetic diagnosis provides data for determine genotype-phenotype correlations, segregation and recurrence risk in families, and new targets for gene- or mutation-specific pharmacological therapies. Improvement of diagnostic techniques is needed to offer patients appropriate care, more focused follow-up, and hopefully drugs to treat their disorders.


Assuntos
Testes Genéticos/métodos , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Malformações Vasculares/genética , Estudos de Associação Genética , Marcadores Genéticos , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Humanos , Malformações Vasculares/diagnóstico , Malformações Vasculares/terapia
10.
Eur J Vasc Endovasc Surg ; 55(5): 688-693, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29503081

RESUMO

OBJECTIVES: The aim was to assess more accurately the net flow of the lower limb perforating veins (PVs). MATERIAL AND METHODS: This was an observational prospective study. Two hundred and twenty one limbs with chronic venous disease (C1-6EpAs,pPr) of 193 patients underwent a duplex ultrasound (DUS). All identified PVs were scanned also by means of quality Doppler profile (QDP) multigate analysis in order to determine their net inward and outward flow direction. A comparison between the traditional pulsed wave Doppler analysis and QDP was performed to detect potential discrepancy between the traditional definition of PV incompetence and a net outward flow. RESULTS: The DUS investigation identified 774 PVs. Only 7.7% of the PVs showed an outward flow lasting more than 500 ms. Among the PVs showing a longer than 500 ms outward flow, QDP assessment revealed net outward flow in only 84% of the PVs along the thigh and in 28.6% along the lower leg. Among the PVs showing a shorter than 500 ms outward flow, QDP assessment reported a net outward flow in 2.4% of the PVs along the thigh and in 47.3% of those along the lower leg. The sensitivity of an outward flow lasting more than 500 ms in detecting an actual net outward flow was 13.9% (9-20.1%). The specificity of an outward flow lasting less than 500 ms in detecting a net inward flow was 96.4% (93.2-98.3%). CONCLUSIONS: A lack of overlap exists between the finding of a PV outward flow lasting more than 500 ms and the net outward flow of the same vessel. The traditional definition of PV incompetence is challenged by the reported data and further investigations are required to identify a gold standard assessment.


Assuntos
Diagnóstico por Computador , Doenças Vasculares Periféricas/diagnóstico , Ultrassonografia Doppler Dupla/métodos , Veias/diagnóstico por imagem , Insuficiência Venosa/diagnóstico , Adulto , Velocidade do Fluxo Sanguíneo , Diagnóstico por Computador/instrumentação , Diagnóstico por Computador/métodos , Precisão da Medição Dimensional , Feminino , Humanos , Extremidade Inferior/irrigação sanguínea , Masculino , Pessoa de Meia-Idade , Doenças Vasculares Periféricas/classificação , Doenças Vasculares Periféricas/fisiopatologia , Reprodutibilidade dos Testes , Software , Veias/fisiopatologia , Insuficiência Venosa/etiologia
11.
J Med Genet ; 55(4): 222-232, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29440349

RESUMO

Syndromes with lymphatic malformations show phenotypic variability within the same entity, clinical features that overlap between different conditions and allelic as well as locus 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. This search allowed us to identify several syndromes with lymphatic malformations that are characterised by a great heterogeneity of phenotypes, alleles and loci, and a high frequency of sporadic cases, which may be associated with somatic mutations. For these disorders, we found many diagnostic tests, an absence of harmonic guidelines for molecular diagnosis and well-established clinical guidelines. Targeted sequencing is the preferred method for the molecular diagnosis of lymphatic malformations. These techniques are easy to implement and have a good diagnostic success rates. In addition, they are relatively inexpensive and permit parallel analysis of all known disease-associated genes. The targeted sequencing approach has improved the diagnostic process, giving patients access to better treatment and, potentially, to therapy personalised to their genetic profiles. These new techniques will also facilitate the prenatal and early postnatal diagnosis of congenital lymphatic conditions and the possibility of early intervention.


Assuntos
Predisposição Genética para Doença , Anormalidades Linfáticas/genética , Linfedema/genética , Malformações Vasculares/genética , Alelos , Testes Genéticos , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Anormalidades Linfáticas/diagnóstico , Anormalidades Linfáticas/fisiopatologia , Linfedema/diagnóstico , Linfedema/fisiopatologia , Mutação , Fenótipo , Malformações Vasculares/diagnóstico , Malformações Vasculares/fisiopatologia
13.
Hepatol Res ; 47(7): 603-615, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28169486

RESUMO

Hepatic vena cava syndrome, also known as membranous obstruction of inferior vena cava (IVC), was considered a rare congenital disease and classified under Budd-Chiari syndrome. It is now recognized as a bacterial infection-induced disease related to poor hygiene. Localized thrombophlebitis of the IVC at the site close to hepatic vein outlets is the initial lesion which converts on resolution into stenosis or complete obstruction, the circulatory equilibrium being maintained by development of cavo-caval collateral anastomosis. These changes persist for the rest of the patient's life. The patient remains asymptomatic for a variable period until acute exacerbations occur, precipitated by bacterial infection, resulting in deposition of thrombi at the site of the lesion and endophlebitis in intrahepatic veins. Large thrombus close to hepatic vein outlets results in ascites from hepatic venous outflow obstruction, which is followed by development of venocentric cirrhosis. Endophlebitis of intrahepatic veins results in ischemic liver damage and development of segmental stenosis or membrane. Acute exacerbations are recognized clinically as intermittent jaundice and/or elevation of aminotransferase or ascites associated with neutrophil leukocytosis and elevation of C-reactive protein; sonologically, they are recognized as the presence of thrombi of different ages in IVC and thrombosis of intrahepatic veins. Development of liver cirrhosis and hepatocellular carcinoma is related to severity or frequency of acute exacerbations and not to duration or type of caval obstruction. Hepatic vena cava syndrome is a common co-morbid condition with other liver diseases in developing countries and it should be considered in differential diagnosis in patient with intermittent elevation serum bilirubin and or aminotransferase or development of ascites and cirrhosis.

15.
J Vasc Surg Venous Lymphat Disord ; 4(3): 336-9, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-27318054

RESUMO

Angiosarcoma is a rare soft tissue sarcoma of endothelial cell origin. It can arise from the endothelium of lymphatics (lymphangiosarcoma) or blood vessels (hemangiosarcoma). Chronic lymphedema of any origin is associated with its development. Few cases have been reported after surgical procedures for lymphedema. Here, we report one case of angiosarcoma that developed 15 months after excisional surgery for lymphedema. In spite of radical surgery and adjuvant chemoradiotherapy, the patient died of multiple lung metastases and pleural effusion 13 months later.


Assuntos
Linfangiossarcoma/etiologia , Vasos Linfáticos/cirurgia , Linfedema/cirurgia , Procedimentos Cirúrgicos Vasculares/efeitos adversos , Idoso , Evolução Fatal , Feminino , Humanos , Medicina
16.
World J Hepatol ; 8(16): 691-702, 2016 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-27326316

RESUMO

AIM: To re-examine whether hepatic vein thrombosis (HVT) (classical Budd-Chiari syndrome) and hepatic vena cava-Budd Chiari syndrome (HVC-BCS) are the same disorder. METHODS: A systematic review of observational studies conducted in adult subjects with primary BCS, hepatic vein outflow tract obstruction, membranous obstruction of the inferior vena cava (IVC), obliterative hepatocavopathy, or HVT during the period of January 2000 until February 2015 was conducted using the following databases: Cochrane Library, CINAHL, MEDLINE, PubMed and Scopus. RESULTS: Of 1299 articles identified, 26 were included in this study. Classical BCS is more common in women with a pure hepatic vein obstruction (49%-74%). HVC-BCS is more common in men with the obstruction often located in both the inferior vena cava and hepatic veins (14%-84%). Classical BCS presents with acute abdominal pain, ascites, and hepatomegaly. HVC-BCS presents with chronic abdominal pain and abdominal wall varices. Myeloproliferative neoplasms (MPN) are the most common etiology of classical BCS (16%-62%) with the JAK2V617-F mutation found in 26%-52%. In HVC-BCS, MPN are found in 4%-5%, and the JAK2V617-F mutation in 2%-5%. Classical BCS responds well to medical management alone and 1(st) line management of HVC-BCS involves percutaneous recanalization, with few managed with medical management alone. CONCLUSION: Systematic review of recent data suggests that classical BCS and HVC-BCS may be two clinically different disorders that involve the disruption of hepatic venous outflow.

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