PMID- 35731233
OWN - NLM
STAT- MEDLINE
DCOM- 20220829
LR  - 20221020
IS  - 1545-5017 (Electronic)
IS  - 1545-5009 (Linking)
VI  - 69
IP  - 10
DP  - 2022 Oct
TI  - Defining vascular anomaly phenotypes in children based on a systematic literature 
      search: A critical step in developing a single severity score for interventional 
      clinical trials.
PG  - e29869
LID - 10.1002/pbc.29869 [doi]
AB  - INTRODUCTION: Genetically targeted drugs in vascular anomalies (VA) are used 
      despite the absence of a validated severity score. The aim of this study was to 
      evaluate the feasibility of grouping phenotypic VA clinical characteristics into 
      a single severity score. METHODS: A systematic literature review including 
      children treated with sirolimus accompanied by a detailed description of 
      phenotype and management was conducted. Demographic data and clinical features 
      were extracted to define distinct categories of phenotypes. RESULTS: Children 
      with VA display two main phenotypes regardless of VA subtype, which may overlap. 
      A systemic phenotype results from direct invasion and compression of vital 
      structures generally leading to hospitalization and aggressive management in 
      infancy. A functional phenotype is associated with chronic pain and disability 
      manifesting mainly during early adolescence and managed in the outpatient 
      setting. CONCLUSION: The two distinct phenotypes described could be the basis for 
      developing a unified scoring system for VA severity assessment.
CI  - (c) 2022 Wiley Periodicals LLC.
FAU - Gariepy-Assal, Laurence
AU  - Gariepy-Assal L
AD  - Pediatric Residency Program, CHU Sainte-Justine, Universite de Montreal, 
      Montreal, Quebec, Canada.
FAU - Dubois, Josee
AU  - Dubois J
AD  - Department of Radiology, CHU Sainte-Justine, Universite de Montreal, Montreal, 
      Quebec, Canada.
AD  - Vascular Anomaly Team, CHU Sainte-Justine, Universite de Montreal, Canada.
AD  - Vascular Anomalies Canada, Anomalies Vasculaires, Montreal, Quebec, Canada.
AD  - Research Center, CHU Sainte-Justine, Universite de Montreal, Montreal, Quebec, 
      Canada.
FAU - Zwicker, Kelley
AU  - Zwicker K
AD  - Vascular Anomalies Canada, Anomalies Vasculaires, Montreal, Quebec, Canada.
AD  - Department of Pediatrics, Children's Hospital of Eastern Ontario, University of 
      Ottawa, Ottawa, Ontario, Canada.
FAU - Pincivy, Alix
AU  - Pincivy A
AD  - Library, CHU Sainte-Justine, Universite de Montreal, Montreal, Quebec, Canada.
FAU - Powell, Julie
AU  - Powell J
AD  - Vascular Anomaly Team, CHU Sainte-Justine, Universite de Montreal, Canada.
AD  - Vascular Anomalies Canada, Anomalies Vasculaires, Montreal, Quebec, Canada.
AD  - Division of Dermatology, Department of Pediatrics, CHU Sainte-Justine, Universite 
      de Montreal, Montreal, Quebec, Canada.
FAU - Zhang, Yang
AU  - Zhang Y
AD  - Canadian Economic Analysis Department, Bank of Canada, Ottawa, Ontario, Canada.
FAU - Breakey, Vicky
AU  - Breakey V
AD  - Vascular Anomalies Canada, Anomalies Vasculaires, Montreal, Quebec, Canada.
AD  - Division of Pediatric Hematology/Oncology, McMaster University, Hamilton, 
      Ontario, Canada.
FAU - Price, Victoria
AU  - Price V
AD  - Vascular Anomalies Canada, Anomalies Vasculaires, Montreal, Quebec, Canada.
AD  - Division of Pediatric Hematology-Oncology, Department of Pediatrics, Dalhousie 
      University, Halifax, Nova Scotia, Canada.
FAU - Brandao, Leonardo R
AU  - Brandao LR
AD  - Vascular Anomalies Canada, Anomalies Vasculaires, Montreal, Quebec, Canada.
AD  - Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, 
      Canada.
AD  - Division of Haematology/Oncology, Department of Paediatrics, Hospital for Sick 
      Children, Toronto, Ontario, Canada.
FAU - Carcao, Manuel
AU  - Carcao M
AD  - Vascular Anomalies Canada, Anomalies Vasculaires, Montreal, Quebec, Canada.
AD  - Division of Haematology/Oncology, Department of Paediatrics, Hospital for Sick 
      Children, Toronto, Ontario, Canada.
FAU - Kleiber, Niina
AU  - Kleiber N
AD  - Vascular Anomaly Team, CHU Sainte-Justine, Universite de Montreal, Canada.
AD  - Vascular Anomalies Canada, Anomalies Vasculaires, Montreal, Quebec, Canada.
AD  - Department of Pediatrics, CHU Sainte-Justine, Universite de Montreal, Montreal, 
      Quebec, Canada.
AD  - Research Center, CHU Sainte-Justine, Universite de Montreal, Montreal, Quebec, 
      Canada.
AD  - Department of Pharmacology and Physiology, Universite de Montreal, Montreal, 
      Quebec, Canada.
LA  - eng
PT  - Journal Article
PT  - Review
PT  - Systematic Review
DEP - 20220720
PL  - United States
TA  - Pediatr Blood Cancer
JT  - Pediatric blood & cancer
JID - 101186624
RN  - W36ZG6FT64 (Sirolimus)
SB  - IM
MH  - Humans
MH  - Phenotype
MH  - Sirolimus/therapeutic use
MH  - *Vascular Malformations/complications/genetics/therapy
OTO - NOTNLM
OT  - burden
OT  - children
OT  - drugs
OT  - pediatrics
OT  - pharmacodynamics
OT  - severity score
OT  - sirolimus
OT  - targeted treatment
OT  - vascular anomaly
OT  - vascular malformation
OT  - vascular tumor
EDAT- 2022/06/23 06:00
MHDA- 2022/08/30 06:00
CRDT- 2022/06/22 11:03
PHST- 2022/05/18 00:00 [revised]
PHST- 2022/03/19 00:00 [received]
PHST- 2022/06/16 00:00 [accepted]
PHST- 2022/06/23 06:00 [pubmed]
PHST- 2022/08/30 06:00 [medline]
PHST- 2022/06/22 11:03 [entrez]
AID - 10.1002/pbc.29869 [doi]
PST - ppublish
SO  - Pediatr Blood Cancer. 2022 Oct;69(10):e29869. doi: 10.1002/pbc.29869. Epub 2022 
      Jul 20.