Nutritional Aspects of Noonan Syndrome and Noonan-Related Disorders

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorSILVA, Fernanda Marchetto da
dc.contributor.authorJORGE, Alexander Augusto
dc.contributor.authorMALAQUIAS, Alexandra
dc.contributor.authorPEREIRA, Alexandre da Costa
dc.contributor.authorYAMAMOTO, Guilherme Lopes
dc.contributor.authorKIM, Chong Ae
dc.contributor.authorBERTOLA, Debora
dc.date.accessioned2016-10-17T16:35:34Z
dc.date.available2016-10-17T16:35:34Z
dc.date.issued2016
dc.description.abstractRasopathies are a group of rare disorders characterized by neurocardiofaciocutaneous involvement, and caused by mutations in several genes of the RAS/MAPK pathway. In the present study, we characterized growth parameters, body composition, and nutritional aspects of children and adults (n = 62) affected by these disorders, mainly Noonan syndrome, using an indirect method-anthropometry-and a 24-hr recall questionnaire. The growth parameters in our cohort showed short stature, especially in individuals with RAF1 and SHOC2 mutations, lower obesity rates compared to the control population, and BMI scores highest in individuals with BRAF mutations and lowest in individuals with SHOC2. Body composition showed a compromise in the upper arm muscle circumference, with a statistically significant difference in the z-score of triceps skin-fold (P = 0.0204) and upper arm fat area (P = 0.0388) between BRAF and SHOC2 groups and in the z-score of triceps skinfold between RAF1 and SHOC2 (P = 0.0218). The pattern of macro-nutrient consumption was similar to the control population. Our study is the first to address body composition in RASopathy individuals and the data indicate a compromise not only in adipose tissue, but also in muscle mass. Studies using different techniques, such as dual-energy X-ray absorptiometry or imaging studies, which give a more precise delineation of fat and non-fat mass, are required to confirm our results, ultimately causing an impact on management strategies. (C) 2016 Wiley Periodicals, Inc.
dc.description.indexMEDLINE
dc.identifier.citationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.170, n.6, p.1525-1531, 2016
dc.identifier.doi10.1002/ajmg.a.37639
dc.identifier.eissn1552-4833
dc.identifier.issn1552-4825
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/16092
dc.language.isoeng
dc.publisherWILEY-BLACKWELL
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsrestrictedAccess
dc.rights.holderCopyright WILEY-BLACKWELL
dc.subjectgrowth
dc.subjectbody composition
dc.subjectanthropometry
dc.subjectfood intake
dc.subjectNoonan syndrome
dc.subjectNoonan related disorders
dc.subjectRAS-MAPK pathway
dc.subject.othersyndrome clinical-features
dc.subject.othermanagement guidelines
dc.subject.othercostello syndrome
dc.subject.othermutations
dc.subject.otherdiagnosis
dc.subject.otherpathway
dc.subject.otherlife
dc.subject.wosGenetics & Heredity
dc.titleNutritional Aspects of Noonan Syndrome and Noonan-Related Disorders
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalMALAQUIAS, Alexandra:Univ Sao Paulo, Fac Med, LIM 25, Endocrinol, Sao Paulo, Brazil
hcfmusp.citation.scopus20
hcfmusp.contributor.author-fmusphcFERNANDA MARCHETTO DA SILVA KANNO
hcfmusp.contributor.author-fmusphcALEXANDER AUGUSTO DE LIMA JORGE
hcfmusp.contributor.author-fmusphcALEXANDRE DA COSTA PEREIRA
hcfmusp.contributor.author-fmusphcGUILHERME LOPES YAMAMOTO
hcfmusp.contributor.author-fmusphcCHONG AE KIM
hcfmusp.contributor.author-fmusphcDEBORA ROMEO BERTOLA
hcfmusp.description.beginpage1525
hcfmusp.description.endpage1531
hcfmusp.description.issue6
hcfmusp.description.volume170
hcfmusp.origemWOS
hcfmusp.origem.pubmed27038324
hcfmusp.origem.scopus2-s2.0-84963591037
hcfmusp.origem.wosWOS:000379946300018
hcfmusp.publisher.cityHOBOKEN
hcfmusp.publisher.countryUSA
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