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Tall stature in familial glucocorticoid deficiency

CLINICAL ENDOCRINOLOGY 2000年第4期53卷 423-430页

作者： Elias, LLK Huebner, A Metherell, LA Canas, A Warne, GL Bitti, MLM Cianfarani, S Clayton, PE Savage, MO Clark, AJL St Bartholomews & Royal London Sch Med & Dent Dept Endocrinol London England Tech Univ Dresden Childrens Hosp D-8027 Dresden Germany Winthrop Univ Hosp Dept Paediat Endocrinol Mineola NY 11501 USA Royal Childrens Hosp Dept Endocrinol & Diabet Melbourne Vic Australia Univ Roma Tor Vergata Dept Paediat Rome Italy Univ Manchester Dept Med Endocrine Sci Res Grp Manchester Lancs England

OBJECTIVE Familial glucocorticoid deficiency (FGD) has frequently been associated with tall stature in affected individuals. The clinical, biochemical and genetic features of five such patients were studied with the aim of clarifying the underlying mechanisms of excessive growth in these patients. PATIENTS AND METHODS Five patients with a clinical diagnosis of FGD are described in whom the disorder resulted from a variety of novel or previously described missense or nonsense mutations of the ACTH receptor (MC2-R). All patients demonstrated excessive linear growth over that predicted from parental indices and increased head circumference. RESULTS Growth hormone and IGF-I-values were normal. Growth charts suggest that the excessive growth is reduced to normal following the introduction of glucocorticoid replacement. A characteristic facial appearance including hypertelorism, marked epicanthic folds and prominent frontal bossing was noted. CONCLUSIONS These findings indicate that ACTH resistance resulting from a defective ACTH receptor may be associated with abnormalities of cartilage and/or bone growth independently of the GH-IGF-I axis, but probably dependent on ACTH actions through other melanocortin receptors.

关键词：促肾上腺皮质激素/血液骨骼年龄测定身高糖皮质激素类/缺乏生长障碍/药物疗法生长障碍/遗传学氢化可的松/血液氢化可的松/治疗应用微卫星重复突变误义序列分析 DNA 儿童儿童学龄前人类婴儿婴儿新生男(雄)性

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Birth weight affects final height in patients treated for growth hormone deficiency

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CLINICAL ENDOCRINOLOGY 1999年第6期51卷 733-739页

作者： Cacciari, E Zucchini, S Cicognani, A Pirazzoli, P Balsamo, A Salardi, S Cassio, A Pasini, A Gualandi, S Univ Bologna Clin Paediat 1 I-40138 Bologna Italy

OBJECTIVE Birth weight influences both postnatal growth and the initial response to GH therapy in GH-deficient subjects, but its relationship to final height is uncertain. Therefore, we examined final height results in a group of subjects treated for GH deficiency who were born small, appropriate or large for gestational age (GA). DESIGN Retrospective study. PATIENTS 108 GH-treated patients (age at diagnosis 11.1 +/- 2.0 years) affected by idiopathic and isolated GH deficiency (peak <8 mu g/l after pharmacological and/or nocturnal mean GH concentration less than or equal to 3.3 mu g/l) were examined. Twenty-four had a birth weight <3rd centile (2300 g +/- 268 - small for GA), 77 between the 3rd and 90th centile (3216 g +/- 317: appropriate for GA) and 7 above the 90th centile (4193g +/- 143: large for GA). MEASUREMENTS All subjects reached final height (growth velocity < 0.5 cm/year in the last year of treatment) after hGH treatment (range 33-96 months) at a dose of 20U/m(2)/week. The 3 groups of subjects started therapy at a similar height for chronological and bone age. RESULTS Final height in the small for GA group was -1.71 +/- 0.93 standard deviation score (SDS), significantly lower than that of both appropriate (-1.14 +/- 0.83 (P <0.01)) and large (-0.70 +/- 0.89 (P <0.01)) for GA groups. Similarly, the small for GA group had a significantly lower height SDS increment from the start of therapy to adult height (0.54 +/- 0.84) than both the appropriate (0.99 +/- 0.78 (P <0.05)) and the large (1.49 +/- 0.84 (P <0.01)) for GA groups. The percentage of subjects with final height above target height was significantly different in the 3 groups: 21% for the small, 38% for the appropriate and 71% for the large for GA groups (P <0.05). In the whole group of patients there was a positive correlation between birth weight and final height (r = 0.38;P <0.0001). CONCLUSIONS The present study showed that our patients, affected by isolated and idiopathic GH deficiency but with

关键词：出生体重身高/药物作用生长障碍/药物疗法生长激素/血液生长激素/缺乏人生长激素/治疗应用线性模型回顾性研究青少年儿童儿童学龄前女(雌)性人类男(雄)性

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Growth and endocrine disorders in multisystem Langerhans' cell histiocytosis

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CLINICAL ENDOCRINOLOGY 2000年第4期53卷 509-515页

作者： Nanduri, VR Bareille, P Pritchard, J Stanhope, R Great Ormond St Hosp Sick Children Dept Endocrinol London WC1N 3JH England Great Ormond St Hosp Sick Children Dept Haematol Oncol London WC1N 3JH England Inst Child Hlth Dept Surg London England

INTRODUCTION Langerhans' cell histiocytosis is a rare disorder, with diabetes insipidus occurring in up to half of patients. Causes of growth failure include the illness itself, treatments used and growth hormone insufficiency. PATIENTS AND METHODS We identified all patients with an endocrinopathy secondary to Langerhans' cell histiocytosis (LCH). Growth data were analysed from all patients with multisystem involvement. RESULTS Of 144 patients with multisystem LCH, 50 had an endocrinopathy, 49 of whom had diabetes insipidus. Growth hormone insufficiency (GHI) was present in 21 patients, seven of whom had other anterior pituitary deficiencies as well (gonadotrophin deficiency + GHI n = 2, gonadotrophin deficiency + TSH deficiency + GHI n = 2, panhypopituitarism n = 3). GH insufficiency, the development of which appeared to be independent of pituitary radiation, occurred at a median age of 8.3 years (4.7-18 years) and at a median interval of 3.5 years (0-11.8 years) after diagnosis of LCH. The median height SDS at diagnosis of growth hormone insufficiency was -2.9. Thirteen of the patients with growth hormone insufficiency attained final height with a median height SDS of -1.2. The final height SDS of 15 patients without GH insufficiency was closer to target height SDS, but not statistically different from that of the GH insufficient group. CONCLUSIONS GH therapy significantly improves growth in GH insufficient patients with Langerhans' cell histiocytosis. Early institution of GH therapy may further improve height outcome. However, most children with Langerhans' cell histiocytosis regardless of endocrine function, failed to reach target height.

关键词：尿崩症/诊断尿崩症/病因学促性腺素类垂体/缺乏生长障碍/诊断生长障碍/药物疗法生长障碍/病因学生长激素/缺乏生长激素/治疗应用组织细胞增多症郎格尔汉斯细胞/并发症组织细胞增多症郎格尔汉斯细胞/诊断组织细胞增多症郎格尔汉斯细胞/药物疗法磁共振成像垂体功能试验垂体/病理学垂体照射统计学非参数促甲状腺素/缺乏青少年儿童儿童学龄前女(雌)性人类

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In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-1) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene

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CLINICAL ENDOCRINOLOGY 1999年第5期51卷 541-550页

作者： de Lacerda, L Carvalho, JAR Stannard, B Werner, H Boguszewski, MCS Sandrini, R Malozowski, SN LeRoith, D Underwood, LE Univ Fed Parana Dept Paediat BR-80060000 Curitiba Parana Brazil NIDDK Diabet Branch NIH Bethesda MD USA US FDA Rockville MD 20857 USA Univ N Carolina Dept Paediat Chapel Hill NC 27515 USA

OBJECTIVES Patients with single allele defects in the gene encoding the type 1 IGF receptor have been reported to have growth failure, but fibroblasts from affected patients have not exhibited insensitivity to the effects of IGF-I in vitro. The in vitro and in vivo responses to short-term recombinant human IGF-I (rhIGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene have been investigated. DESIGN AND PATIENT The child exhibited prenatal and severe post-natal growth failure, and delayed psychomotor development. Southern blotting revealed a 50% reduction in IGF-I receptor DNA, and in an RNase protection assay (RPA), a quantitatively similar reduction in steady-state mRNA for type 1 IGF receptor. rhIGF-I was administered in graded doses of 40, 60 and 80 mu g/kg twice daily by subcutaneous injection for periods of 2-2.5 days each. RESULTS During rhIGF-I treatment, mean urinary nitrogen excretion was unchanged and urinary calcium rose to 60% greater than in the pre-treatment period, rhIGF-I injections produced only a modest decrease in indices of GH secretion, assessed by frequent (every 20 min) sampling over periods of 12 h. There was no significant difference between the mean GH concentrations during rhIGF-I treatment (5.32+/-6.2mU/I) compared with that before rhIGF-I treatment (8.46+/-10.2 mU/I). Mean IGFBP-3-values were increased (4.5 mg/l before vs. 5.4 mg/l during rhIGF-I). TSH values after injection of TRH were not significantly reduced by IGF-I (mean of all values, 18.6 mU/I vs. 15.5 mU/I during rhIGF-I treatment). In vitro binding of radiolabelled IGF-I to the patient's fibroblasts was less than that bound by control fibroblasts (patient, 0.69% binding by 248000 cells, vs. 1 41% binding by 260000 fibroblasts from an age-matched control). However, the patient's fibroblasts exhibited a growth response in vitro to the addition of IGF-I in a fashion similar to that of control fibroblasts.

关键词：印迹法 DNA 细胞培养的染色体人 15对成纤维细胞/药物作用成纤维细胞/代谢基因缺失生长障碍/药物疗法生长障碍/遗传学生长障碍/代谢生长激素/血液胰岛素样生长因子Ⅰ/代谢胰岛素样生长因子Ⅰ/治疗应用 RNA 信使/分析受体 IGF1型/遗传学受体 IGF1型/代谢重组蛋白质类/代谢重组蛋白质类/治疗应用环状染色体儿童学龄前女(雌)性人类

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A study of chromosomal aberrations and chromosomal fragility after recombinant growth hormone treatment

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PEDIATRIC RESEARCH 2000年第5期47卷 634-639页

作者： Slyper, AH Shadley, JD Van Tuinen, P Richton, SM Hoffmann, RG Wyatt, DT Med Coll Wisconsin Fund Res Ctr Milwaukee WI 53201 USA Miami Childrens Hosp Miami FL 33155 USA

Increased chromosomal rearrangements and chromosomal fragility have been previously observed in lymphocytes of children treated with human GH, implying that treatment could predispose to malignancy. Twenty-four children with classic GH deficiency, neurosecretory CH dysfunction, and Turner syndrome were treated with recombinant human GH (0.3 ***(-1).wk(-1)). Metaphase cells were assessed for spontaneous chromosomal and chromatid aberrations at baseline and 6 mo into treatment. There were no significant differences in aberrations between baseline and the 6-mo samples. However, the mean frequency of chromatid-type aberrations on a per cell basis was significantly higher than at baseline, 0.0088 versus 0.0064 aberrations per cell (p < 0.024). Two patients contributed inordinately to this increase. A third sample from these two patients was almost identical to their baseline samples. Cells were also irradiated in vitro (3 Cy) to assess chromosomal fragility. After irradiation, no patient showed a significant difference for any aberration type, although there was a significantly lower frequency of ring chromosomes on a per cell basis in the 6-mo samples (p < 0.001). We find no evidence that GH therapy influences spontaneous chromosomal aberrations or chromosomal fragility.

关键词：细胞培养的染色单体/药物作用染色单体/辐射效应染色体畸变染色体脆性染色体人/药物作用染色体人/辐射效应生长障碍/血液生长障碍/药物疗法人生长激素/副作用人生长激素/治疗应用淋巴细胞/血液淋巴细胞/细胞学淋巴细胞/药物作用淋巴细胞/辐射效应中期/药物作用中期/辐射效应特纳综合征/血液特纳综合征/药物疗法青少年儿童儿童学龄前女(雌)性人类男(雄)性

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Cardiac dimension and function in patients with childhood onset growth hormone deficiency, before and after growth hormone retreatment in adult age

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AMERICAN HEART JOURNAL 2003年第3期145卷 549-553页

作者： Feinberg, MS Scheinowitz, M Laron, Z Chaim Sheba Med Ctr Inst Heart IL-52621 Tel Hashomer Israel Chaim Sheba Med Ctr Neufeld Cardiac Res Inst IL-52621 Tel Hashomer Israel Tel Aviv Univ Sackler Sch Med Schneider Childrens Med Ctr Endocrinol & Diabet Res Unit IL-69978 Tel Aviv Israel

Background Growth hormone (GH) replacement during childhood has been shown to increase stature;however, there is little information on its long-term effect on the heart is not yet clear. The aim of this study was to assess cardiac size and function in patients with childhood-onset GH deficiency in whom GH treatment had been stopped at the achievement of final height and the effect of a second course of GH replacement in adult age. Methods Cardiac dimensions and function, obtained with echocardiography, of 21 patients (5 women and 16 men, mean age 28 8 years), all of whom were treated during childhood, were compared with 21 age- and sex-matched healthy control subjects. Eight of these patients (2 women and 6 men, mean age 28 +/- 8 years) were given a second course of GH replacement therapy for 15 3 months. Results The stature and all cardiac dimensions of patients with GH deficiency who were treated during childhood were significantly smaller than those of the control subjects. After the second course of GH in adulthood, the only significant change observed was an increase in left ventricular (LV) mass (93 +/- 21 vs 106 +/- 24 g, P = .007) and LV mass index (59 +/- 12 vs 66 +/- 13 g/body surface area, P = .005). Conclusion The stature and cardiac dimensions of patients with childhood-onset GH deficiency measured in adult age were smaller than those of control subjects, despite long-term GH replacement therapy during childhood. A second course of GH treatment during adulthood caused a significant increase in the estimated LV mass index in patients with both isolated and multiple pituitary hormone deficiency.

关键词：发病年龄身高/药物作用剂量效应关系药物用药计划表超声心动描记术生长/药物作用生长障碍/药物疗法心脏/药物作用心脏/生长和发育心脏/生理学激素替代疗法/方法人生长激素/缺乏人生长激素/药理学人生长激素/治疗应用重组蛋白质类/药理学重组蛋白质类/治疗应用治疗结果青少年成年人儿童女(雌)性人类男(雄)性

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Growth hormone stimulation testing in both short and normal statured children: Use of an immunofunctional assay

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PEDIATRIC RESEARCH 2000年第5期48卷 614-618页

作者： Mauras, N Walton, P Nicar, M Welch, S Rogol, AD Res Programs Jacksonville FL USA Diagnost Syst Labs Webster TX 77598 USA Univ Virginia Med Ctr Charlottesville VA 22908 USA

Accurate interpretation of the results of GH stimulation tests is of pivotal importance not only in the evaluation of the etiology of growth retardation in children but also in the selection of the best candidates for GH therapy. We performed this study to test a novel immunofunctional GH (IFGH) assay that makes use of the concept that one GH molecule dimerizes two GH receptors and compared the results with those obtained using two GH assays, the Diagnostic Systems Laboratories ELISA and a Hybritech immunoradiometric assay in 19 children with short stature undergoing routine GK stimulation testing. We also tested 13 normally statured control children to revisit the issue of what constitutes normal GH responses to stimuli, using all three assays and arginine and either L-dopa or insulin-induced hypoglycemia as secretagogues. Concentrations of IGF-I, IGF binding protein-3, and acid labile subunit were measured as well. There was a significant correlation between peak IFGH and Diagnostic Systems Laboratories ELISA GH responses to stimuli (r(2) = 0.93) as well as between the Diagnostic Systems Laboratories ELISA and Hybritech immunoradiometric assay (r(2) = 0.91). There were no significant differences between the short stature and normal group in peak or mean GH concentrations regardless of the assay used;however, the IGF-I, IGF binding protein-3, and acid labile subunit concentrations were substantially lower in the shea stature group. There was a wide spectrum of GH concentrations in the normal group;similar to 50% of the children had peak GR concentrations <7 ng/mL, 30% (5 ng/mL, and two pubertal normal subjects peaked to only 2 ng/ml, with use of both the ELISA and IFGH assays. We conclude that 1) sensitive GH assays, ELISA and immunoradiometric assay, accurately detect a GH capable of generating a biologic signal comparable to an IFGH and 2) that normal GH stimulation test results can be substantially lower than previously accepted. GH-dependent growth

关键词：载体蛋白质类/血液病例对照研究酶联免疫吸附测定糖蛋白类/血液生长障碍/血液生长障碍/诊断生长障碍/药物疗法人生长激素/血液人生长激素/缺乏人生长激素/诊断应用人生长激素/治疗应用免疫测定/方法免疫放射分析胰岛素样生长因子结合蛋白质3/血液胰岛素样生长因子Ⅰ/代谢青少年儿童儿童学龄前女(雌)性人类男(雄)性

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Biochemical tests of growth hormone status in short children

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ANNALS OF CLINICAL BIOCHEMISTRY 2001年第1期38卷 1-2页

作者： Butler, J Guys Kings & St Thomas Sch Med Dept Clin Biochem London SE5 9PJ England

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Increased availability of human growth hormone

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International Journal of Technology Assessment in Health Care 1988年第4期4卷 629-633页

作者： Larsson, Ague University of Uppsala Sweden University of Goteborg Sweden

Human growth hormone (GH) has until recently been prepared commercially from pituitary glands collected at autopsy. Availability has been limited and cost high, so the indications for GH treatment have had to be “tight.” Owing to recent development in hybrid DNA technology, the availability of GH has increased dramatically. At the same time, the manufacturers have maintained constant prices, so that treatment costs continue to influence decision making about its use. This rapid transition has generated an interesting change of strategy, which is outlined in this review.

关键词：生物技术/发展趋势生长障碍/药物疗法生长激素/生物合成生长激素/供应和分配生长激素/治疗应用规划技术技术评估生物医学青少年儿童儿童学龄前人类

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Insulin secretion in growth hormone-deficient adults: Effects of 24 months' therapy and five days' acute withdrawal of recombinant human growth hormone

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METABOLISM-CLINICAL AND EXPERIMENTAL 1999年第11期48卷 1387-1396页

作者： Kamarudin, N Hew, FL Christopher, M Alford, J Rantzau, C Ward, G Alford, F St Vincents Hosp Dept Endocrinol & Diabet Fitzroy Vic 3065 Australia Univ Melbourne Dept Med Melbourne Vic Australia

beta-Cell function in growth hormone (GH)-deficient (GHD) adults is poorly documented. beta-Cell function was therefore studied in 10 GHD adults (age, 40 +/- 3 years;weight, 79.3 +/- 4.8 kg;body mass index [BMI], 27.5 +/- 1.3 kg . m(-2)) before and after 6- and 24-month recombinant human GH (rhGH) therapy (0.24 IU . kg(-1) . wk(-1)) compared with 10 age-, sex-, weight-, and BMI-matched control subjects. With rhGH therapy, fat-free mass (FFM) increased (48.2 +/- 4.9, 52.5 +/- 4.8, and 59 +/- 6.8 kg, respectively) and fat mass (FM) decreased (33.8% +/- 2.8%, 28.0% +/- 3.0%, end 29.4% +/- 2.5%, respectively), as did serum cholesterol. Oral glucose tolerance initially deteriorated at 6 months, but improved toward the control value by 24 months. Fasting insulin (FI) increased significantly, as did the acute insulin response to oral glucose (Delta AIR(OGTT)/Delta G) at 30 minutes (FI: pretreatment 9.8 +/- 0.8, 6 months, 14.0 +/- 1.8, 24 months 12.5 +/- 1.6 v control 11.4 +/- 1.9 mU . L-1;Delta AIR(OGTT)/Delta G: pretreatment 201 +/- 24, 6 months 356 +/- 41, 24 months 382 +/- 86 v control 280 +/- 47 mU . mmol(-1)). However, the acute insulin response to intravenous (IV) glucose (AIR(G)) and IV glucagon at euglycemia and hyperglycemia did not change with rhGH therapy and were similar to the control group values. Importantly, the expected reciprocal relationships (as observed for the control group) between the various insulin secretory parameters and insulin sensitivity (SI) either were not present or were statistically weak in GHD subjects, despite the 35% decrease in SI by 24 months of rhGH therapy. In particular, over time, there was an attenuation of insulin secretion with respect to the ongoing insulin resistance with rhGH therapy, particularly for AIRG at 24 months. After 5 days of rhGH withdrawal, insulin secretion decreased and SI improved in GHD subjects. It is concluded that the current long-term rhGH treatment regimens appear to impact on insulin secretion such th

关键词：身体成分用药计划表葡萄糖钳制技术生长障碍/血液生长障碍/药物疗法生长障碍/代谢人生长激素/投药和剂量人生长激素/缺乏人生长激素/治疗应用胰岛素/血液胰岛素/代谢重组蛋白质类/治疗应用时间因素成年人女(雌)性人类男(雄)性

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