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168


Update February 2019 [Editorial]

Blei, Francine
ISI:000463399400011
ISSN: 1539-6851
CID: 4354582

Update December 2018 [Editorial]

Blei, Francine
ISI:000453718900011
ISSN: 1539-6851
CID: 3589192

More Than Skin Deep: Lethargy and Diaphoresis in the Morning

Finkelstein, Robert A; Mody, Kalgi; Traube, Chani; Blei, Francine
PMID: 30507758
ISSN: 1535-1815
CID: 3678212

Guidance Document for Hepatic Hemangioma (Infantile and Congenital) Evaluation and Monitoring

Iacobas, Ionela; Phung, Thuy L; Adams, Denise M; Trenor, Cameron C; Blei, Francine; Fishman, Douglas S; Hammill, Adrienne; Masand, Prakash M; Fishman, Steven J
OBJECTIVE:To define the types of hepatic hemangiomas using the updated International Society for the Study of Vascular Anomalies classification and to create a set of guidelines for their diagnostic evaluation and monitoring. STUDY DESIGN/METHODS:We used a rigorous, transparent consensus protocol defined by an approved methodology, with input from multiple pediatric experts in vascular anomalies from hematology-oncology, surgery, pathology, radiology, and gastroenterology. RESULTS:In the first section, we define the subtypes of hepatic hemangiomas based on the clinical course, histology, and radiologic characteristics. We recommend against using the term "hemangioma" for any vascular malformations affecting the liver or any hypervascular tumors that are not characterized by the approved definitions. We recommend against using the term "hemangioendothelioma" for infantile or congenital hemangioma. The following 2 sections dedicated to infantile hepatic hemangioma and to congenital hepatic hemangioma individually describe these subtypes in further detail, including complications to be considered during monitoring and respectively recommended screening evaluations. CONCLUSIONS:Although institutional variations may exist for specific clinical details, a clear understanding of the diagnosis of hepatic hemangiomas affecting children and the possible complications that require screening during the monitoring period should be standard. As children with hepatic hemangiomas are managed by different medical and surgical specialties, we offer an expert opinion multidisciplinary consensus based on current literature and on data extracted from the liver hemangioma registry.
PMID: 30244993
ISSN: 1097-6833
CID: 3313872

Update October 2018

Blei, Francine
ORIGINAL:0014571
ISSN: 1557-8585
CID: 4354752

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

Wooderchak-Donahue, Whitney L; Johnson, Peter; McDonald, Jamie; Blei, Francine; Berenstein, Alejandro; Sorscher, Michelle; Mayer, Jennifer; Scheuerle, Angela E; Lewis, Tracey; Grimmer, J Fredrik; Richter, Gresham T; Steeves, Marcie A; Lin, Angela E; Stevenson, David A; Bayrak-Toydemir, Pinar
RASA1-related disorders are vascular malformation syndromes characterized by hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM), arteriovenous fistulas (AVF), or Parkes Weber syndrome. The number of cases reported is relatively small; and while the main clinical features are CMs and AVMs/AVFs, the broader phenotypic spectrum caused by variants in the RASA1 gene is still being defined. Here, we report the clinical and molecular findings in 69 unrelated cases with a RASA1 variant identified at ARUP Laboratories. Sanger sequencing and multiplex ligation-dependent probe amplification were primarily used to evaluate RASA1. Several atypical cases were evaluated using next-generation sequencing (NGS) and array-comparative genomic hybridization (aCGH). Sixty individuals had a deleterious RASA1 variant of which 29 were novel. Nine individuals had a variant of uncertain significance. Five large RASA1 deletions were detected, giving an overall deletion/duplication rate of 8.3% (5/60) among positive cases. Most (75.4%) individuals with a RASA1 variant had CMs, and 44.9% had an AVM/AVF. Clinical findings in several cases expand the RASA1 phenotype. Our data suggest that screening for large RASA1 deletions and duplications in this disorder is important and suggest that NGS multi-gene panel testing is beneficial for the molecular diagnosis of cases with complex vascular phenotypes.
PMCID:6138627
PMID: 29891884
ISSN: 1476-5438
CID: 3167092

Update August 2018

Blei, Francine
ORIGINAL:0014570
ISSN: 1557-8585
CID: 4354742

Update February 2018

Blei, Francine
ORIGINAL:0013155
ISSN: 1557-8585
CID: 3588702

Update December 2017

Blei, Francine
PMID: 29252141
ISSN: 1557-8585
CID: 3063302

Prenatal Risk Factors for PHACE Syndrome: A Study Using the PHACE Syndrome International Clinical Registry and Genetic Repository

Wan, Joy; Steiner, Jack; Baselga, Eulalia; Blei, Francine; Cordisco, Maria; Garzon, Maria C; Goddard, Deborah S; Haggstrom, Anita; Krol, Alfons; Frieden, Ilona J; Metry, Denise; Morel, Kimberly D; Verhagen, Judith M A; Wargon, Orli; Drolet, Beth A; Siegel, Dawn H
The cause of PHACE syndrome is unknown. In a study of 218 patients, we examined potential prenatal risk factors for PHACE syndrome. Rates of pre-eclampsia and placenta previa in affected individuals were significantly greater than in the general population. No significant risk factor differences were detected between male and female subjects.
PMCID:5690843
PMID: 28867065
ISSN: 1097-6833
CID: 3070802