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Letter to editor regarding "Clinical practice guidelines on management of infantile hemangioma: a systematic quality appraisal using the AGREE II instrument"

Frieden, Ilona J; Mancini, Anthony J; Blei, Francine; Darrow, David H; Krowchuk, Daniel P
PMID: 36688573
ISSN: 1521-0669
CID: 5419462

Update December 2022

Blei, Francine
PMID: 36537708
ISSN: 1557-8585
CID: 5394602

Update October 2022

Blei, Francine
PMID: 36302176
ISSN: 1557-8585
CID: 5359612

Successful use of telemedicine for evaluation of infantile hemangiomas during the early COVID-19 pandemic: A cross-sectional study

Kittler, Nicole W; Frieden, Ilona J; Abuabara, Katrina; Siegel, Dawn H; Horii, Kimberly A; Mathes, Erin F; Blei, Francine; Haggstrom, Anita N; Streicher, Jenna L; Metry, Denise W; Garzon, Maria C; Morel, Kimberly D; Lauren, Christine T; Hogeling, Marcia; Fernandez Faith, Esteban; Baselga, Eulalia; Tollefson, Megha M; Newell, Brandon D; McCuaig, Catherine C; Mancini, Anthony J; Chamlin, Sarah L; Becker, Emily M; Cossio, Maria L; Shah, Sonal D
BACKGROUND/OBJECTIVES/OBJECTIVE:The COVID-19 pandemic prompted a rapid expansion in the use of telemedicine. This study aimed to assess the experiences of hemangioma specialists utilizing telemedicine during the COVID-19 pandemic to evaluate and manage infantile hemangiomas (IH), including perceived effectiveness of different modalities and barriers to care delivery. METHODS:Multicenter cross-sectional study asking providers to describe their experiences using telemedicine for initial evaluation of IH from March to September 2020. RESULTS:The study included 281 patients from 15 medical centers internationally. Median time from referral to evaluation was 17 days. Median physician confidence in performing evaluations via telemedicine was 95.0 (IQR 90.0-100.0). Most evaluations were performed via video communication with photographs or audio communication with photographs; when not initially available, photographs were requested in 51.4%. Providers preferred follow-up modalities that included photographs. CONCLUSIONS:Physicians with extensive expertise in managing IH are confident in their abilities to assess and manage IH via telemedicine including initiating treatment in patients without risk factors for beta-blocker therapy. There was a preference for hybrid modalities that included photographs. The data suggest that telemedicine can be effective for managing IH and may decrease wait times and improve specialist reach to underserved areas.
PMID: 35734850
ISSN: 1525-1470
CID: 5289322

480 The spectrum of oligogenic variants in the RAS pathway in a PHACE cohort [Meeting Abstract]

Siegel, D; Partan, E; Davies, O; Chamlin, S; Drolet, B; Mancini, A; Sundaram, L; Tutaj, M; Frieden, I; Metry, D; Blei, F; Lin, C; Wang, K; Karakikes, I; Urban, A; Oro, A; Sobreira, N
The acronym PHACE (posterior fossa anomalies, infantile hemangiomas, arterial anomalies, cardiac defects and eye anomalies) was coined to describe the features of an uncommon sporadic condition with a vascular tumor (infantile hemangioma), developmental and progressive vascular abnormalities. Here, we report the findings of our analysis of whole genome sequencing of germline samples from 98 unrelated trios in which the probands had PHACE. Two coding variants, RASA3-p.Val85Met and THBS2-p.Asp859Asn, were predicted to be pathogenic by numerous algorithms. This analysis was negative for a shared gene across multiple probands; however, a g:Profiler pathway analysis of the genes with rare, de novo variants demonstrated combinatorial variants in the RAS/MAPK pathway. Coding and noncoding variants in six RAS pathway genes were prioritized based on the vascular abnormalities reported in knockout mouse models. To identify lineages in which the genes may be acting, we explored the expression of the prioritized candidate genes RASA3, AFF2, DLC1, EPHA3, PIK3CA, and THBS2 across diverse cell types in the human developing heart by incorporating chromatin accessibility (scATAC-seq) and gene expression (scRNA-seq) datasets. We observed that AFF2, EPHA3, PIK3CA, and THBS2 are co-expressed in the vascular smooth muscle cells in the fetal heart, whilst AFF2, EPHA3, and PIK3CA are co-expressed in the vascular endothelium. These findings suggest oligogenic variants in RAS pathway genes may contribute to the developmental vascular abnormalities in PHACE.
ISSN: 1523-1747
CID: 5291942

It is timely and exciting that Pediatric Blood and Cancer has endorsed a supplement dedicated to Vascular Anomalies [Editorial]

Blei, Francine; Adams, Denise; Brandao, Leonardo R; Trenor, Cameron; Iacobas, Ionela; Hammill, Adrienne
PMID: 35686828
ISSN: 1545-5017
CID: 5248532

Update February 2022

Blei, Francine
PMID: 35167345
ISSN: 1557-8585
CID: 5163412

Update December 2021

Blei, Francine
PMID: 34958250
ISSN: 1557-8585
CID: 5108022

Update August 2021

Blei, Francine
PMID: 34328787
ISSN: 1557-8585
CID: 4950062

How we approach hemangiomas in infants

Mayer, Jennifer L R; Intzes, Stefanos; Oza, Vikash S; Blei, Francine
Pediatric oncologists are increasingly involved in the management of benign vascular tumors and their associated life-threatening complications. Hemangiomas are the most common referring diagnosis to multidisciplinary vascular anomalies clinics. However, as contemporary research has revealed, hemangiomas are not a single, easily defined entity but rather a diverse set of related vascular tumors, each having a unique natural history, growth pattern, and response to therapy. This manuscript seeks to illustrate how we evaluate and manage these complex tumors, their complications, and associated syndromes, while remaining ever vigilant for malignant hemangioma mimickers such as soft tissue sarcomas and congenital leukemia.
PMID: 34151510
ISSN: 1545-5017
CID: 4918132