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1.
Bone ; 153: 116112, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34252600

RESUMO

INTRODUCTION: Type 1 diabetes mellitus (T1DM) is considered a risk factor for osteoporosis in adults; however, studies in bone mineral density (BMD) in children with T1DM reported conflicting results. The aim of this study was to compare BMD between T1DM youth and healthy controls, and to identify factors that affect BMD in T1DM youth. METHODS: One hundred T1DM youths and 100 healthy controls (both groups aged 5-20 years) were recruited. BMD of total body, lumbar (L2-4), femoral neck, and total hip were assessed using dual energy X-ray absorptiometry. Blood investigations, including hemoglobin A1c (HbA1c), 25-hydroxyvitamin D, and inflammatory cytokines, were performed. RESULTS: Forty-four boys and 56 girls with T1DM were enrolled [mean age 14.5 ±â€¯2.7 years, median (IQR) duration of T1DM 5.80 (2.97-9.07) years, and mean HbA1c entire duration 9.2 ±â€¯1.4%]. T1DM girls had a lower height Z-score than control girls (p < 0.05), and 25-hydroxyvitamin D level was higher in T1DM youth than in controls (p < 0.001). After adjusting for pubertal status, height Z-score, and 25-hydroxyvitamin D, T1DM youth had a significantly lower lumbar BMD Z-score and femoral neck BMD than controls (p = 0.027 and p = 0.025, respectively). We also found that T1DM boys had a significantly lower lumbar BMD Z-score (p = 0.028), femoral neck BMD (p = 0.004), and total hip BMD (p = 0.016) than control boys. In contrast, these significant differences were not found in T1DM girls. Factors affecting BMD were different between T1DM boys and girls, and among different BMD sites. IL-13 was positively correlated with BMD in the total cohort and among girls. In boys - IL-2 and 25-hydroxyvitamin D were positively associated with BMD, and duration of diabetes was found to negatively affect BMD. CONCLUSION: Deleterious effect of T1DM on BMD is gender specific. The longer the duration of T1DM, the greater the deficit in BMD found among boys with T1DM.


Assuntos
Diabetes Mellitus Tipo 1 , Absorciometria de Fóton , Adolescente , Adulto , Densidade Óssea , Criança , Citocinas , Feminino , Humanos , Masculino , Tailândia , Vitamina D
4.
Am J Med Genet A ; 155A(4): 860-4, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21416594

RESUMO

Holoprosencephaly (HPE) is the most common malformation of the human forebrain. Typical manifestations in affected patients include a characteristic pattern of structural brain and craniofacial anomalies. HPE may be caused by mutations in over 10 identified genes; the inheritance is traditionally viewed as autosomal dominant with highly variable expressivity and incomplete penetrance. We present the description of a family simultaneously segregating two novel variants in the HPE-associated genes, ZIC2 and GLI2, as well as the results of extensive population-based studies of the variant region in GLI2. This is the first time that multiple HPE-associated variants in these genes have been reported in one family, and raises important questions about how clinicians and researchers should view the inheritance of conditions such as HPE.


Assuntos
Holoprosencefalia/genética , Fatores de Transcrição Kruppel-Like/genética , Proteínas Nucleares/genética , Fatores de Transcrição/genética , Sequência de Aminoácidos , Criança , Feminino , Predisposição Genética para Doença/genética , Holoprosencefalia/diagnóstico por imagem , Humanos , Dados de Sequência Molecular , Mutação/genética , Linhagem , Fenótipo , Radiografia , Proteína Gli2 com Dedos de Zinco
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