WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell

PrepTutorEJDIC

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.

Starr LJ1, Sanmann JN, Olney AH, Wandoloski M, Sanger WG, Coulter DW.Author information 1Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.AbstractDuplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy 18 increases the risk for Wilms tumor and it is currently recommended that these patients undergo abdominal ultrasonography screening every 6 months. We report on nephroblastomatosis in a 27-month-old male with a 55 Mb duplication of chromosome 18q11.2-q23 (chr18:22693370-77982126, hg 19) and propose that the trisomy 18 tumor screening protocol could also benefit patients with large 18q duplications. © 2014 Wiley Periodicals, Inc.
American journal of medical genetics. Part A.Am J Med Genet A.2014 Apr;164(4):1079-82. doi: 10.1002/ajmg.a.36432. Epub 2014 Mar 4.
Duplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy 18 increases the risk for Wilms tumor and it is currently recommended that these patients undergo abdominal ultrasonography screening every 6 months. W
PMID 24596125

Lorenz JM1, Hardart GE.Author information 1aDivision of Neonatology, College of Physicians and Surgeons, Columbia University bDivision of Pediatric Critical Care Medicine, College of Physicians and Surgeons, Columbia University, New York, New York, USA.AbstractPURPOSE OF REVIEW: To review the evolving management of infants/children with trisomy 18, the prognosis with and without medical intervention, the factors that have contributed to the evolving management strategies, and an approach to the formulation of healthcare management plans for newborns with trisomy 18.
Current opinion in pediatrics.Curr Opin Pediatr.2014 Apr;26(2):169-76. doi: 10.1097/MOP.0000000000000076.
PURPOSE OF REVIEW: To review the evolving management of infants/children with trisomy 18, the prognosis with and without medical intervention, the factors that have contributed to the evolving management strategies, and an approach to the formulation of healthcare management plans for newborns with
PMID 24503533

Twenty-two survivors over the age of 1 year with full trisomy 18: Presenting and current medical conditions.

Bruns D1, Campbell E.Author information 1Southern Illinois University Carbondale, Carbondale, Illinois.AbstractThe purpose of the study is to provide data about 22 survivors over the age of 1 year with full trisomy 18 (12-59 months). Mothers completed the online, mixed method Tracking Rare Incidence Syndrome (TRIS) Survey provides data on birth information (e.g., gestational age, birth weight) and medical conditions identified at birth and at the time of survey completion. Data indicate similar birth characteristics to other studies and presence of syndrome related medical conditions including cardiac conditions, use of a variety of feeding methods, apnea, respiratory difficulties, and kidney issues. Associated interventions, sometimes considered "aggressive" or "intensive" treatments including cardiac surgeries were noted in the sample. Implications for treatment are provided and the need for additional research with this clinical subgroup is needed. © 2013 Wiley Periodicals, Inc.
American journal of medical genetics. Part A.Am J Med Genet A.2014 Mar;164(3):610-9. doi: 10.1002/ajmg.a.36318. Epub 2013 Dec 20.
The purpose of the study is to provide data about 22 survivors over the age of 1 year with full trisomy 18 (12-59 months). Mothers completed the online, mixed method Tracking Rare Incidence Syndrome (TRIS) Survey provides data on birth information (e.g., gestational age, birth weight) and medical co
PMID 24375938