2024
Targeted treatments for vascular malformations: current state of the art.
Seront E, Hermans C, Boon LM, Vikkula M.
J Thromb Haemost. 2024 Nov;22(11):2961-2975.
https://pubmed.ncbi.nlm.nih.gov/39097232/
Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing.
Wedemeyer MA, Ding T, Garfinkle EAR, Westfall JJ, Navarro JB, Hernandez Gonzalez ME, Varga EA, Witman P, Mardis ER, Cottrell CE, Miller AR, Miller KE.
Sci Rep. 2024 Oct 25;14(1):25440.
https://pubmed.ncbi.nlm.nih.gov/39455600/
Responsiveness of the condition-specific Outcome measures for VAscular MAlformations (OVAMA) questionnaire to measure symptoms and appearance in patients with vascular malformations.
Stor MLE, Lokhorst MM, Horbach SER, Luijten MAJ, Spuls PI, van der Horst CMA.
Br J Dermatol. 2024 Oct 17;191(5):728-736.
https://pubmed.ncbi.nlm.nih.gov/38805691/
Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.
Andreoti TA, Maiolo M, Tuleja A, Döring Y, Schaller A, Vassella E, Boon LM, Baumgartner I, Bernhard SM, Zweier C, Vikkula M, Rössler J.
Am J Med Genet A. 2024 Oct 7:e63883.
https://pubmed.ncbi.nlm.nih.gov/39376044/
Cost-utility of sirolimus in the treatment of vascular malformations.
Li GX, Sebaratnam DF.
Australas J Dermatol. 2024 Oct 4. doi: 10.1111/ajd.14369. Online ahead of print.
https://pubmed.ncbi.nlm.nih.gov/39367582/
Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.
DeBose-Scarlett E, Ressler AK, Gallione CJ, Sapisochin Cantis G, Friday C, Weinsheimer S, Schimmel K, Spiekerkoetter E, Kim H, Gossage JR, Faughnan ME, Marchuk DA.
Am J Hum Genet. 2024 Oct 3;111(10):2283-2298.
https://pubmed.ncbi.nlm.nih.gov/39299239/
Similarities and differences between brain and skin GNAQ p.R183Q driven capillary malformations.
Nasim S, Bichsel C, Pinto A, Alexandrescu S, Kozakewich H, Bischoff J.
Angiogenesis. 2024 Sep 29. doi: 10.1007/s10456-024-09950-8. Online ahead of print.
https://pubmed.ncbi.nlm.nih.gov/39343803/
The utility of dynamic contrast-enhanced intranodal magnetic resonance lymphangiography (MRL) in the investigation of primary lymphatic anomalies.
Ratnam LA, Mills M, Wale A, Howroyd LR, Itkin M, Howe FA, Gordon K, Mansour S, Ostergaard P, Mortimer PS.
Clin Radiol. 2024 Oct;79(10):e1180-e1188. doi: 10.1016/j.crad.2024.06.009.
https://pubmed.ncbi.nlm.nih.gov/39003166/
Model-Informed individualized dosage regimen of sirolimus in pediatric patients with intractable lymphatic malformations.
Liu B, Zhang X, Zhao Y, Xu X, Wang S, Wang X, Cheng X.
Eur J Pharm Sci. 2024 Sep 1;200:106837. doi: 10.1016/j.ejps.2024.106837.
https://pubmed.ncbi.nlm.nih.gov/38960206/
Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition.
Kapp FG, Bazgir F, Mahammadzade N, Mehrabipour M, Vassella E, Bernhard SM, Döring Y, Holm A, Karow A, Seebauer C, Platz Batista da Silva N, Wohlgemuth WA, Oppenheimer A, Kröning P, Niemeyer CM, Schanze D, Zenker M, Eng W, Ahmadian MR, Baumgartner I, Rössler J.
Angiogenesis. 2024 Jul 5. doi: 10.1007/s10456-024-09934-8.
https://pubmed.ncbi.nlm.nih.gov/38969873/
Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis.
Nozawa A, Abe T, Niihori T, Ozeki M, Aoki Y, Ohnishi H.
Hum Mol Genet. 2024 Aug 6;33(16):1420-1428. doi: 10.1093/hmg/ddae080.
https://pubmed.ncbi.nlm.nih.gov/38743908/
NRASQ61R mutation drives elevated angiopoietin-2 expression in human endothelial cells and a genetic mouse model.
Pastura P, McDaniel CG, Alharbi S, Fox D, Coleman B, Malik P, Adams DM, Le Cras TD.
Pediatr Blood Cancer. 2024 Jul;71(7):e31032. doi: 10.1002/pbc.31032.
https://pubmed.ncbi.nlm.nih.gov/38711167/
Central conducting lymphatic anomaly: from bench to bedside.
Garlisi Torales LD, Sempowski BA, Krikorian GL, Woodis KM, Paulissen SM, Smith CL, Sheppard SE.
J Clin Invest. 2024 Apr 15;134(8):e172839. doi: 10.1172/JCI172839.
https://pubmed.ncbi.nlm.nih.gov/38618951/
Management and Outcomes of Pediatric Lymphatic Malformations: A Systematic Review From the APSA Outcomes and Evidence-Based Practice Committee.
Huerta CT, Beres AL, Englum BR, Gonzalez K, Levene T, Wakeman D, Yousef Y, Gulack BC, Chang HL, Christison-Lagay ER, Ham PB 3rd, Mansfield SA, Kulaylat AN, Lucas DJ, Rentea RM, Pennell CP, Sulkowski JP, Russell KW, Ricca RL, Kelley-Quon LI, Tashiro J, Rialon KL; American Pediatric Surgical Association Outcomes and Evidence-Based Practice Committee.
J Pediatr Surg. 2024 Oct;59(10):161589. doi: 10.1016/j.jpedsurg.2024.05.019.
https://pubmed.ncbi.nlm.nih.gov/38914511/
Dyadic coping experiences of parents of children with vascular anomalies.
Kerr AM, Wehrli J, Contente C, D P, Sisk BA.
Pediatr Blood Cancer. 2024 Nov;71(11):e31261. doi: 10.1002/pbc.31261.
https://pubmed.ncbi.nlm.nih.gov/39171558/
