Dra. Vanesa Viana Huete

Publicaciones

• Nava Y Hurtado, F., Monzon Manzano, E., Viana-Huete, V et al. (2024). Assessing coagulopathy and endothelial dysfunction in pediatric venous malformation: A thromboelastometry and syndecan-1 study. Pediatric blood & cancer, 71(5), e30915.

  The occurrence of unpredictable pain crises are the principal determinant of the quality of life for patients with venous malformations (VM). A definite coagulation phenomenon, characterized by an increase in D-dimer levels and the presence of phleboliths within the malformation, has been previously reported. By applying Virchow's triad and evaluating intralesional samples, our objective is to delineate the coagulation profile and the extent of endothelial dysfunction within the malformation.

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• Seyedeh M. Zekavat*, Vanesa Viana-Huete*, et al. (2023). TP53-mediated clonal hematopoiesis confers increased risk for incident atherosclerosis disease. Nat Cardiovascular Res. Jan 16;2:144-158 * (co-first authors)

  We analyze the relation between CHIP status and incident peripheral artery disease (PAD) and atherosclerosis, using whole-exome sequencing and clinical data from the UK and Brigham Biobanks. CHIP associated with incident PAD and atherosclerotic disease across multiple beds, with increased risk among individuals with CHIP driven by mutation in DNA damage repair (DDR) genes, such as TP53 and PPM1D.

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• Beteta-Gorriti V, Vázquez-Osorio I, de Dios-Velázquez Á, Rodriguez-Laguna L, Viana-Huete V, et al. (2022). Mixed vascular naevus syndrome: report of three children with somatic GNA11 mutation and new systemic associations. Clin Exp Dermatol. Jan;47(1):129-135.

  Mixed vascular naevus (MVN) is characterized by the co‐occurrence of telangiectatic capillary malformation and naevus anaemicus, which can be combined with systemic manifestations such as brain malformations, neurological abnormalities and musculoskeletal disorders. We also confirm a somatic mutation of GNA11 in both telangiectatic naevus and naevus anaemicus in two of our patients and discuss a possible common pathogenic mechanism underlying the different manifestations of the syndrome

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• Martinez-Glez, V., Rodriguez-Laguna, L., Viana-Huete, V., et al. (2022). Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series study. Clinical genetics, 101(3), 296–306.

  We present the clinical and molecular characteristics a cohort of 37 patients with vascular malformations and segmental undergrowth.Deep high-throughput sequencing was performed in tissue samples from 20 patients using a custom panel. We identified three groups: undergrowth associated with (1) venous, (2) capillary-venous, and (3) lymphatic-capillary-venous malformations genes.In conclusion, the eponymous Servelle–Martorell syndrome should not be used as a synonym for undergrowth.

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• Fuster JJ, Zuriaga MA, Zorita V, MacLauchlan S, Polackal MN, Viana-Huete V, et al. (2020). TET2- Loss-of-Function-Driven Clonal Hematopoiesis Exacerbates Experimental Insulin Resistance in Aging and Obesity. Cell Rep. Oct 27;33(4):108326.

  We show that inactivating mutations in the epigenetic regulator TET2, which lead to clonal hematopoiesis, aggravate age- and obesity-related insulin resistance in mice. This metabolic dysfunction is paralleled by increased expression of the pro-inflammatory cytokine IL-1β in white adipose tissue, and it is suppressed by pharmacological inhibition of NLRP3 inflammasome-mediated IL-1β production.

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