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排序方式: 共有61条查询结果,搜索用时 218 毫秒
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Bitnun A Sochett E Dick PT To T Jefferies C Babyn P Forbes J Read S King SM 《The Journal of clinical endocrinology and metabolism》2005,90(1):168-174
Previous pediatric studies have failed to demonstrate a clear association between protease inhibitor (PI) therapy and abnormal glucose homeostasis in HIV-infected children. To define more precisely the impact of PI therapy on glucose homeostasis in this population, we performed the insulin-modified frequent-sampling iv glucose tolerance test on 33 PI-treated and 15 PI-naive HIV-infected children. Other investigations included fasting serum lipids; glucose, insulin, and C-peptide; single-slice abdominal computed tomography; and, in a subset of PI-treated children, an oral glucose tolerance test.There were no differences between the two groups with respect to fasting serum insulin or C-peptide, homeostatic model assessment insulin resistance, or quantitative insulin sensitivity check index. The mean insulin sensitivity index of PI-treated and PI-naive children was 6.93 +/- 6.37 and 10.58 +/- 12.93 x 10(-4)min(-1) [microU/ml](-1), respectively (P = 0.17). The mean disposition index for the two groups was 1840 +/- 1575 and 3708 +/- 3005 x 10(-4)min(-1) (P = 0.013), respectively. After adjusting for potential confounding variables using multiple regression analysis, the insulin sensitivity index and disposition index of PI-treated children were significantly lower than that of PI-naive children (P = 0.01 for both). In PI-treated but not PI-naive children, insulin sensitivity correlated inversely with visceral adipose tissue area (r = -0.43, P = 0.01) and visceral to sc adipose tissue ratio (r = -0.49, P = 0.004). Mildly impaired glucose tolerance was noted in four of 21 PI-treated subjects tested.Our results demonstrate not only that PI therapy reduces insulin sensitivity in HIV-infected children but also that it impairs the beta-cell response to this reduction in insulin sensitivity and, in a subset of children, leads to the development of impaired glucose tolerance. The presence of insulin resistance, dyslipidemia, and the significant correlation of reduced insulin sensitivity with increased visceral adipose tissue content suggest that PI-containing highly active antiretroviral therapy is associated with the emergence of early features of a metabolic syndrome-like phenotype. 相似文献
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OBJECTIVE: To describe the natural history of urinary albumin excretion measured initially during the first decade of type 1 diabetes in adolescents and to identify predictors of the onset and progression of microalbuminuria (MA) in this population.STUDY DESIGN: A retrospective cohort follow-up study was done on 76 adolescents whose albumin excretion rate (AER) had been determined in the first decade of their diabetes. Subjects were monitored for a mean of 6 years after initial AER testing. Those with MA were compared with a group with similar age, sex, and diabetes duration who initially had normoalbuminuria (NA). RESULTS: Of the 28 with initial MA, 9 (32%) regressed (8 to within the NA range), whereas MA was persistent in 10 (36%) and progressed in 9 (32%), 5 to overt proteinuria. Of the 47 who had initial NA, MA developed in 14 (30%) and overt proteinuria in 3 (6%). With MA status at follow-up as the dependent variable, multiple regression analysis showed that initial AER (P =.0002) and hemoglobin A1c (P =.02) measured at the same time were significant independent variables. CONCLUSIONS: These data suggest that in adolescents: (1) MA detected in the first decade of disease will persist or progress in the second decade in approximately two thirds of patients, and new MA will develop in a third of those initially normoalbuminuric; and (2) the appearance, persistence, or progression of MA is influenced in large part by metabolic control assessed by hemoglobin A1c both at initial MA screening and throughout the course of diabetes. This underlines the need for MA screening starting early in the course of type 1 diabetes in adolescents and for maintenance of good metabolic control. 相似文献
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Unger S Paul DA Nino MC McKay CP Miller S Sochett E Braverman N Clarke JT Cole DE Superti-Furga A 《European journal of pediatrics》2005,164(4):236-243
Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lysosomal enzyme targeting disorder that usually presents between 6 and 12 months of age with a clinical phenotype resembling Hurler syndrome and a radiological picture of dysostosis multiplex. When ML II is severe enough to be detected in the newborn period, the radiological changes have been described as similar to hyperparathyroidism or rickets. The biological basis of these findings has not been explored and few biochemical measurements have been recorded. We describe three unrelated infants with ML II who had radiological features of intrauterine hyperparathyroidism and biochemical findings consistent with severe secondary neonatal hyperparathyroidism (marked elevation of serum parathyroid hormone and alkaline phosphatase levels). The vitamin D metabolites were not substantially different from normal and repeatedly normal calcium concentrations excluded vitamin D deficiency rickets and neonatal severe hyperparathyroidism secondary to calcium-sensing receptor gene mutations (OMIM 239200). The pathogenesis of severe hyperparathyroidism in the fetus and newborn with ML II is unexplained. We hypothesize that the enzyme targeting defect of ML II interferes with transplacental calcium transport leading to a calcium starved fetus and activation of the parathyroid response to maintain extracellular calcium concentrations within the normal range. Conclusion: Newborns with mucolipidosis II can present with radiological and biochemical signs of hyperparathyroidism. Awareness of this phenomenon may help in avoiding diagnostic pitfalls and establishing a proper diagnosis and therapy.Some material from this paper was presented at the 6th International Skeletal Dysplasia Conference in Warrenton, Virginia, August 22, 2003. 相似文献
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Mäkitie O Ellis L Durie PR Morrison JA Sochett EB Rommens JM Cole WG 《Clinical genetics》2004,65(2):101-112
Pancreatic exocrine and bone marrow dysfunctions are considered to be universal features of Shwachman-Diamond syndrome (SDS) whereas the associated skeletal dysplasia is variable and not consistently observed. The genetic defect in SDS has recently been identified; causative mutations have been shown in the SBDS gene. The aims of this study were to characterize the nature, frequency, and age-related changes of radiographic skeletal abnormalities in patients with SBDS mutations and to assess genotype-phenotype correlation. Fifteen patients (mean age 9.7 years) with a clinical diagnosis of SDS and documented SBDS gene mutations were included. Review of their skeletal radiographs showed abnormalities in all patients. The skeletal changes were variable, even in patients with identical genotypes. The typical features were (1) delayed appearance of secondary ossification centers, (2) variable widening and irregularity of the metaphyses in early childhood, followed by progressive thickening and irregularity of the growth plates, and (3) generalized osteopenia. There was a tendency towards normalization of the epiphyseal maturation defect and progression of the metaphyseal changes with age. The results suggest that the characteristic skeletal changes are present in all patients with SDS and SBDS mutations, but their severity and localization varies with age. No phenotype-genotype correlation was observed. 相似文献
7.
Insulin antibodies have been documented before (insulin autoantibodies [IAAs]) and after (insulin antibodies) insulin administration in children with new-onset insulin-dependent diabetes mellitus (IDDM). Whereas the relationship of IAA to various factors at presentation has been studied in some detail, little is known about their relationship to events during the 1st yr after diagnosis. Furthermore, the course and factors affecting insulin-antibody response to human insulin administration in children with newly diagnosed IDDM remain poorly defined. To study these questions, we measured serum glucose, pH, bicarbonate, C-peptide, and IAA at diagnosis in 84 children between 0.5 and 18 yr of age. Basal and peak C-peptide responses to Sustacal ingestion, glycosylated hemoglobin (HbA1c), and IAA were then measured in 33 of these patients at 10 days and 1, 3, 6, and 12 mo after diagnosis. At presentation, IAAs were absent (binding below the mean + 3SD of the binding of control serums) in 51 patients (61%) and present (binding above the mean + 3SD) in 33 patients (39%). Multiple regression analysis showed a significant nonlinear relationship between IAAs and both age (P less than .005) and blood glucose (P less than .05) at onset. There was a stepwise increase in median insulin-antibody binding throughout the 1st yr. This increase was most marked during the 1st mo of insulin therapy and showed a statistically significant difference between successive measurements only during this period.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
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E Sochett J M Pettifor L Milner P D Thomson F Berkowitz 《Suid-Afrikaanse tydskrif vir geneeskunde》1984,65(10):397-398
Cystinosis is thought to be rare in Black patients. Two cases of nephropathic cystinosis in Blacks in early childhood are reported. One patient presented with classic features of Fanconi's syndrome with failure to thrive and rickets, while the other had polyuria, growth failure and rickets. This article highlights the need for the exclusion of cystinosis in any Black patient presenting with Fanconi's syndrome. 相似文献
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Yuliya Lytvyn PhD Petter Bjornstad MD Julie A. Lovshin PhD Sunita K. Singh MSc Genevieve Boulet MD Mohammed A. Farooqi MD Vesta Lai RN Josephine Tse RN Leslie Cham RN Leif E. Lovblom MSc Alanna Weisman MD Hillary A. Keenan PhD Michael H. Brent MD Narinder Paul MD Vera Bril MD Andrew Advani PhD Etienne Sochett MB ChB Bruce A. Perkins MPH David Z. I. Cherney PhD 《Diabetes, obesity & metabolism》2019,21(6):1388-1398
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J Korvala M Löija O Mäkitie E Sochett H Jüppner D Schnabel S Mora WG Cole L Ala-Kokko M Männikkö 《European journal of medical genetics》2012,55(10):515-519
Childhood-onset primary osteoporosis is manifested as reduced bone mineral density, peripheral fractures and/or vertebral compression fractures. Until now, only mutations in LRP5 have been shown to cause the disorder. Candidate gene analyses were performed on 15 patients with primary osteoporosis and 80 healthy controls using CSGE and sequencing. The genes studied included DKK1, DKK2, WNT3A, WNT10B, AXIN1, SOST, TPH1 and 5-HTR1B. Two rare variants in WNT3A (c.152A > G, p.K51R) and DKK1 (c.359G > T, p.R120L) were identified in two patients and their affected family members, but not in control subjects, suggesting a significance for the skeletal phenotype. The in vitro studies of variants showed reduced signaling activity in p.K51R-Wnt3a, while no differences were observed between the WT and variant forms of DKK1. This study addresses the role of other components of the canonical Wnt signaling pathway besides LRP5 in primary osteoporosis, and putatively associates WNT3A and DKK1 variants with the disorder. Future functional studies are needed to elucidate the functional effects of the variants. 相似文献