ABSTRACT
INTRODUCTION: Cardiovascular disease is one of the main causes for Turner syndrome (TS) mortality and the evaluation of its risk factors such as excess body fat and its distribution is considered one of the major aspects of the adult patient care. OBJECTIVE: To develop and validate a specific bioelectrical impedance analysis (BIA) equation to predict body composition in TS patients. SUBJECTS AND METHODS: Clinical and anthropometric data, dual-energy X-ray absorptiometry (DXA) for total fat-free mass (FFM) and BIA for resistance and reactance were obtained from 50 adult TS patients. Linear regression analysis was performed with multiple clinical and BIA data to obtain a predicting equation. RESULTS: The equation developed to estimate FFM in adult TS patients showed great consistency with DXA, elevated correlation (r = 0. 974) and determination (r² = 0. 948) coefficients and an adequate standard error estimate (SEE = 1.52 kg). CONCLUSIONS: The specific equation developed here allowed making an adequate FFM estimate in adult TS patients.
INTRODUÇÃO: A doença cardiovascular é uma das principais causas de mortalidade na síndrome de Turner (ST) e a avaliação de seus fatores de risco, como excesso e distribuição de gordura corporal, é considerada uma das principais metas da assistência às pacientes adultas. OBJETIVO: Desenvolver e validar uma equação de análise por bioimpedanciometria específica para estimar massa magra na ST. SUJEITOS E MÉTODOS: Foram obtidos dados clínicos, antropométricos, densitometria para massa magra total e bioimpedanciometria para resistência e reactância de 50 mulheres adultas com ST. Para obter uma equação preditora, foi realizada análise de regressão linear com múltiplos dados clínicos e da bioimpedanciometria. RESULTADOS: A equação desenvolvida para estimar massa magra na ST demonstrou grande concordância com a densitometria, elevados coeficientes de correlação (r = 0,974) e determinação (r² = 0,948) e um adequado erro padrão da estimativa (SEE = 1,52 kg). CONCLUSÕES: A equação desenvolvida possibilitou uma adequada estimativa da massa magra em adultas com ST.
Subject(s)
Adult , Female , Humans , Middle Aged , Young Adult , Body Composition/physiology , Turner Syndrome , Anthropometry , Absorptiometry, Photon/methods , Electric Impedance , Linear Models , Predictive Value of Tests , Turner Syndrome/genetics , Young AdultABSTRACT
A baixa estatura é a principal característica na síndrome de Turner (ST). O agravo estatural na ST é precoce e torna-se mais evidente na puberdade. A haploinsuficiência do gene SHOX tem sido implicada como principal fator na definição da estatura de mulheres, no entanto, ainda que a maioria das pacientes não tenha deficiência do hormônio de crescimento, a terapia com GHr melhora a altura final. Recentemente, tem-se chamado a atenção para a associação entre GH e câncer. O risco de câncer nessas pacientes está associado à presença de fragmentos do cromossomo Y que pode levar ao desenvolvimento de gonadoblastoma. Dessa forma, a administração de GHr na ST deve ser feita com cautela. A investigação de seqüências do cromossomo Y deve ser realizada, bem como a gonadectomia profilática nos casos positivos, conferindo maior segurança ao tratamento.
Short stature is the major characteristic of Turner syndrome. The statural appeal is premature and become evident in the puberty. Haploinsuficiency of SHOX gene has been related as main factor on final height of these patients. Despite the majority of the patients are not growth hormone deficient, the GHr therapy improves the final height. Recently, a great number of publications have described the association between GH and cancer. The cancer risk, in these patients, is mainly associated with the presence of Y chromosome sequences that can lead to the gonadoblastoma development. In conclusion, the GHr therapy in ST patients deserves caution. The investigation of Y chromosome sequences should be performed as well as the prophylactic gonadectomy in the positive cases conferring confidence to the treatment.
Subject(s)
Female , Humans , Dwarfism/drug therapy , Homeodomain Proteins/genetics , Human Growth Hormone/therapeutic use , Neoplasms/etiology , Turner Syndrome/drug therapy , Dwarfism/genetics , Genomic Imprinting , Gonadoblastoma/genetics , Human Growth Hormone/adverse effects , Ovarian Neoplasms/genetics , Polymorphism, Genetic , Turner Syndrome/complications , Turner Syndrome/geneticsABSTRACT
Fragile X syndrome is the most frequent cause of inherited mental retardation. The phenotype in this syndrome is quite variable and less conspicuous in younger patients, making clinical diagnosis difficult and thus making molecular diagnosis necessary. The use of clinical checklists in mentally retarded individuals can help selecting patients to be given priority in the molecular investigation for the fragile-X mutation in the FMR1 gene. We evaluated two clinical checklists in a sample of 200 Brazilian male patients with mental retardation. The highest scores in the two checklists concentrated among the 19 males (9.5 percent) found to carry full mutations. Our results confirm the importance of fragile-X checklists as a clinical tool in the study of mentally retarded patients.