Evidence map›Paper›PMID 40597142›Full record

ArticleOrphanet journal of rare diseases2025

Nutritional status and metabolic alterations in patients with ataxia-telangiectasia.

Cristiano do Amaral de Leon, Sérgio Luis Amantea, Renan Augusto Pereira, Ellen O Dantas, Jéssica Loekmanwidjaja, Beatriz T Costa-Carvalho, Juliana T L Mazzucchelli, Carolina S Aranda, Maria E González-Serrano, Elizabeth Alejandra De La Cruz Córdoba and 60 more

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Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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5 · Who and what money

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70 authors.

Cristiano do Amaral de LeonGraduate Program in Medical Sciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Rua Sarmento Leite, 245, Centro Histórico, Porto Alegre, RS, 90050-170, Brazil. cristiano.leon@ulbra.br.
Sérgio Luis AmanteaPediatrics Department, UFCSPA, Rua Sarmento Leite, 245, Centro Histórico, Porto Alegre, RS, 90050-170, Brazil. sergioa@ufcspa.edu.br.
Renan Augusto PereiraPediatrics Department, UFCSPA, Rua Sarmento Leite, 245, Centro Histórico, Porto Alegre, RS, 90050-170, Brazil.
Ellen O DantasPediatrics Department, Universidade Federal de São Paulo (UNIFESP), Rua Botucatu, 598, Vila Clementino, São Paulo, SP, 04023-062, Brazil.
Jéssica LoekmanwidjajaPediatrics Department, Universidade Federal de São Paulo (UNIFESP), Rua Botucatu, 598, Vila Clementino, São Paulo, SP, 04023-062, Brazil.
Beatriz T Costa-CarvalhoPediatrics Department, Universidade Federal de São Paulo (UNIFESP), Rua Botucatu, 598, Vila Clementino, São Paulo, SP, 04023-062, Brazil.
Juliana T L MazzucchelliUniversidade Federal de São Paulo, Rua Sena Madureira, 1500, Vila Clementino, São Paulo, SP, 04021-001, Brazil.
Carolina S ArandaUniversidade Federal de São Paulo, Rua Sena Madureira, 1500, Vila Clementino, São Paulo, SP, 04021-001, Brazil.
Maria E González-SerranoInstituto Nacional de Pediatria, Avenida Insurgentes Sur, 3700-Letra C, Insurgentes Cuicuilco, Coyoacán, 04530, Ciudad de México, México Ciudad de México, Mexico.
Elizabeth Alejandra De La Cruz CórdobaInstituto Nacional de Pediatria, Avenida Insurgentes Sur, 3700-Letra C, Insurgentes Cuicuilco, Coyoacán, 04530, Ciudad de México, México Ciudad de México, Mexico.
Liliana BezrodnikHospital de Niños Ricardo Gutierrez, Gallo 1330, C1425EFD Ciudad Autónoma de, Buenos Aires, Argentina.
Ileana MoreiraHospital de Niños Ricardo Gutierrez, Gallo 1330, C1425EFD Ciudad Autónoma de, Buenos Aires, Argentina.
Janaira F S FerreiraHospital Infantil Albert Sabin, Rua Tertuliano Sales, 544, Vila União, Fortaleza, CE, 60410-794, Brazil.
Vera M DantasUniversidade Federal do Rio Grande do Norte (UFRN), Avenida Senador Salgado Filho, 3000, Campus Universitário, Lagoa Nova, RN, 59078-970, Brazil.
Valéria S F SalesUniversidade Federal do Rio Grande do Norte (UFRN), Avenida Senador Salgado Filho, 3000, Campus Universitário, Lagoa Nova, RN, 59078-970, Brazil.
Carmen L NavarreteInmune Centro De Vacunas, 100129, Ciudad del Este, Alto Paraná, Paraguay.
Maria M S VilelaUniversidade Estadual de Campinas (UNICAMP), Avenida Albert Einstein, 901, Cidade Universitária "Zeferino Vaz", Barão Geraldo, Campinas, SP, 13083-852, Brazil.
Isabella P MottaUniversidade Estadual de Campinas (UNICAMP), Avenida Albert Einstein, 901, Cidade Universitária "Zeferino Vaz", Barão Geraldo, Campinas, SP, 13083-852, Brazil.
Jose Luis FrancoUniversidad de Antioquia, UdeA, Cl. 67 #53-108, Medellin, Antioquia, Colombia.
Julio Cesar Orrego ArangoUniversidad de Antioquia, UdeA, Cl. 67 #53-108, Medellin, Antioquia, Colombia.
Jesús A Álvarez-ÁlvarezUniversidad de Antioquia, UdeA, Cl. 67 #53-108, Medellin, Antioquia, Colombia.
Lina Rocío Riaño CardozoUniversidad de Antioquia, UdeA, Cl. 67 #53-108, Medellin, Antioquia, Colombia.
Julio C OrellanaHospital de Niños de la Santisima Trinidad, Bajada Pucará 787, X5000, Cordoba, Argentina.
Antonio Condino-NetoHospital das Clínicas FMUSP, Universidade de São Paulo, Rua Doutor Ovídio Pires de Campos, 225, Cerqueira César, São Paulo, SP, 05403-010, Brazil.
Cristina M KokronHospital das Clínicas FMUSP, Universidade de São Paulo, Rua Doutor Ovídio Pires de Campos, 225, Cerqueira César, São Paulo, SP, 05403-010, Brazil.
Myrthes T BarrosHospital das Clínicas FMUSP, Universidade de São Paulo, Rua Doutor Ovídio Pires de Campos, 225, Cerqueira César, São Paulo, SP, 05403-010, Brazil.
Lorena RegairazHospital de Niños Sor Maria Ludovica, Calle 14 1631, La Plata, Buenos Aires, Argentina.
Diana CabanillasHospital de Niños Sor Maria Ludovica, Calle 14 1631, La Plata, Buenos Aires, Argentina.
Carmen L N SuarezHospital Roberto del Rio, Profesor Zañartu, 1085, Independencia, Santiago, Chile.
Nelson A RosarioUniversidade Federal do Paraná (UFPR), Rua XV de Novembro, 1299, Centro, Curitiba, PR, 80060-000, Brazil.
Herberto J Chong-NetoUniversidade Federal do Paraná (UFPR), Rua XV de Novembro, 1299, Centro, Curitiba, PR, 80060-000, Brazil.
Olga A TakanoUniversidade Federal do Mato Grosso, Rua Quarenta e Nove, 2367, Boa Esperança, Cuiabá, MT, 78060-900, Brazil.
Maria I S V NadafUniversidade Federal do Mato Grosso, Rua Quarenta e Nove, 2367, Boa Esperança, Cuiabá, MT, 78060-900, Brazil.
Lillian S L MoraesUniversidade Federal do Mato Grosso, Rua Quarenta e Nove, 2367, Boa Esperança, Cuiabá, MT, 78060-900, Brazil.
Fabiola S TavaresHospital da Criança de Brasília José de Alencar, AENW 3, Lote A, Setor Noroeste, Brasília, DF, 70684-831, Brazil.
Flaviane RabeloHospital da Criança de Brasília José de Alencar, AENW 3, Lote A, Setor Noroeste, Brasília, DF, 70684-831, Brazil.
Jessica PinoFundación Valle del Lili Hospital, Cra. 98 #18-49, Comuna 17, Cale, Valle del Cauca, Colombia.
Wilmer C CalderonFaculty of Medicine, Universidad Nacional Mayor de San Marcos (UNMSM), Av. Carlos Germán Amezaga #375, Lima, Peru.
Daniel Mendoza-QuispeFaculty of Medicine, Universidad Nacional Mayor de San Marcos (UNMSM), Av. Carlos Germán Amezaga #375, Lima, Peru.
Ekaterine S GoudourisUniversidade Federal do Rio de Janeiro, Rua Antônio Barros de Castro, 119, Cidade Universitária, Rio De Janeiro, RJ, 21941-853, Brazil.
Virginia PatiñoHospital de Pediatría del Centro Hospitalario Pereira Rossell, Bulevar Artigas 1590, Lord Ponsoby 2410, 11600, Montevideo, Uruguay.
Cecilia MontenegroHospital de Pediatría del Centro Hospitalario Pereira Rossell, Bulevar Artigas 1590, Lord Ponsoby 2410, 11600, Montevideo, Uruguay.
Monica S SouzaHospital Federal dos Servidores do Estado, Rua Sacadura Cabral, 178, Saúde, Rio de Janeiro, RJ, 20221-161, Brazil.
Aniela B X C Castelo BrancoHospital Federal dos Servidores do Estado, Rua Sacadura Cabral, 178, Saúde, Rio de Janeiro, RJ, 20221-161, Brazil.
Wilma C N ForteFaculdade de Ciências Médicas da Santa Casa de São Paulo, R. Jaguaribe, 155, Vila Buarque, São Paulo, SP, 01224-001, Brazil.
Flavia A A CarvalhoInstituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz), , Avenida Rui Barbosa, 716, Flamengo, Rio de Janeiro, RJ, 22250-020, Brazil.
Gesmar SegundoUniversidade Federal de Uberlândia (UFU), Avenida João Naves de Ávila, 2121, Santa Mônica, Uberlândia, MG, 38408-100, Brazil.
Marina F A CheikUniversidade Federal de Uberlândia (UFU), Avenida João Naves de Ávila, 2121, Santa Mônica, Uberlândia, MG, 38408-100, Brazil.
Pérsio Roxo-JuniorDivision of Immunology and Allergy, Department of Pediatrics, Ribeirão Preto Medical School, Universidade de São Paulo, Avenida Bandeirantes, 3900, Ribeirão Preto, SP, 14048-900, Brazil.
Maryanna PeresDivision of Immunology and Allergy, Department of Pediatrics, Ribeirão Preto Medical School, Universidade de São Paulo, Avenida Bandeirantes, 3900, Ribeirão Preto, SP, 14048-900, Brazil.
Annie M OliveiraHospital Universitário Presidente Dutra, Rua Barão de Itapari, 227, Centro, São Luís, MA, 65020-070, Brazil.
Arnaldo C P NetoUniversidade de Passo Fundo (UPF), BR 285 km 292,7, Campus I, Bairro São José, São José, Passo Fundo, RS, 99052-900, Brazil.
Maria Claudia Ortega-LópezHospital Universitário Infantil de San José, Cra. 52 #67a-71, Barrios Unidos, Bogotá, Cundinamarca, Colombia.
Alejandro LozanoUniversidad Católica de Córdoba, Avenida Armada Argentina 3555, X5017, Córdoba, Argentina.
Natalia Andrea LozanoUniversidad Católica de Córdoba, Avenida Armada Argentina 3555, X5017, Córdoba, Argentina.
Leticia H NietoHospital del Niño DIF Hidalgo, Blvd. Felipe Ángeles, Km 84.5, Venta Prieta, 42083 Pachuca de Soto, Hgo., Pachuca de Soto, Mexico.
Anete S GrumachCentro Universitário Faculdade de Medicina do ABC (FMABC), Avenida Lauro Gomes, 2000, Vila Sacadura Cabral, Santo André, SP, 09060-870, Brazil.
Daniele C CostaHospital de Clínicas de Passo Fundo, RuaTiradentes, 295, Centro, Passo Fundo, RS, 99010-260, Brazil.
Nelma M N AntunesUniversidade Estadual de Montes Claros, Avenida Professor Rui Braga, s/n, Vila Mauriceia, Montes Claros, MG, 39401-089, Brazil.
Victor NudelmanHospital Israelita Albert Einstein, Avenida Albert Einstein, 627/701, Morumbi, São Paulo, SP, 05652-900, Brazil.
Camila T M PereiraDivision of Allergy Clinical Immunology and Rheumatology, Universidade Federal de São Paulo (UNIFESP), Rua dos Otonis 725, Vila Clementino, São Paulo, SP, 04025-002, Brazil.
Maria D M MartinezCentro Medico Nacional La Raza (CMN Raza), P.º de las Jacarandas S/N, La Raza, Azcapotzalco, 02990, Ciudad de México, CDMX, Mexico.
Francisco J R QuirozInstituto Hondureño de Seguridad Social, GXRM + QQ9, San Pedro Sula, 21102, Honduras.
Aristoteles A CardonaUniversidad Autónoma de Aguascalientes, Avenida Universidad # 940, Ciudad Universitaria, C.P. 20100, Aguascalientes, Ags., México.
Maria E Nuñez-NuñezHospital Civil de Guadalajara Dr Juan I Menchaca, Salvador Quevedo y Zubieta, 750, Independencia Oriente, 44340, Guadalajara, , Jal., Mexico.
Jairo A RodriguezUniversidad Surcolombiana, Avenida Pastrana Borrero, Carrera 1, Neiva, Huila, Colombia.
Célia M CuellarInstituto de Medicina Tropical, PCC4 + RPC, 001535, Asunción, Paraguay.
Gustavo VijoditzHospital Nacional Alejandro Posadas, Avenida Presidente Arturo U. Illia s/n y Marconi Morón 386, B1684, El Palomar, Provincia de Buenos Aires, Argentina.
Daniélli C Bichuetti-SilvaUniversidade Federal de Goiás (UFG), Av. Esperança, s/n - Chácaras de Recreio Samambaia, Goiânia, GO, 74690-900, Brazil.
Carolina C M PrandoHospital Pequeno Príncipe, Rua Desembargador Motta, 1070, Água Verde, Curitiba, PR, 80250-060, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAtaxia-telangiectasia (A-T) is a DNA repair disorder characterized by progressive degeneration, immunodeficiency, cancer predisposition, malnutrition, metabolic disorders, and chronic liver disease. The study aims to describe the nutritional status and plasma levels of biomarkers of lipid status, metabolic profile, and liver function of patients with A-T.

resultsA total of 218 patients from 9 Latin American countries were included in the study. The distribution of patients according to nutritional status by age group revealed an over-time increase in the proportion of patients with severe thinness (p = 0.016). High glucose and triglyceride levels were observed in 9.5% and 23.6% of patients, respectively. Total cholesterol was high in 31.7, and 34.0% had abnormal LDL-c levels. In the analysis of paired samples, a progressive increase in aspartate aminotransferase was observed over time.

conclusionsThe present results are comparable to those of previous studies also showing changes in nutritional status and in lipid, metabolic, and liver profiles over time. These findings confirm a high rate of thinness in patients with A-T and progressive deterioration as the disease progresses, as well as changes in plasma levels of biomarkers of lipid status, metabolic profile, and liver function.

Indexed as

Ataxia TelangiectasiaNutritional StatusAdolescentAdultAgedBiomarkersChildFemaleHumansMaleMiddle AgedYoung AdultBiomarkersAminotransferasesAtaxia telangiectasia syndromeGlucose metabolism disordersLipid metabolism disordersMalnutrition

Identifiers

PMID40597142
PMCPMC12220173

What Socratic holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.