Hormone research最新文献_第2页

Response to growth hormone in short children with Noonan syndrome: correlation to genotype. 努南综合征矮个子儿童对生长激素的反应:与基因型的相关性。

Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243781

Gerhard Binder

{"title":"Response to growth hormone in short children with Noonan syndrome: correlation to genotype.","authors":"Gerhard Binder","doi":"10.1159/000243781","DOIUrl":"https://doi.org/10.1159/000243781","url":null,"abstract":"Short stature is a major characteristic of Noonan syndrome (NS), the biological basis of which is not yet clear. In around half of all individuals with NS, the cytoplasmic tyrosine phosphatase SHP2 encoded by PTPN11 is mutated and predicted to be overactive. While SHP2 enhances Ras-MAPK signaling, it downregulates Jak2/STAT5b signaling of the growth hormone (GH) receptor, according to in vitro data. Decreased IGF-I levels have been measured in those children with NS who carried PTPN11 mutations suggesting a mode of mild GH insensitivity. The short-term responsiveness to GH therapy in NS with respect to PTPN11 mutations has been addressed in 3 studies in the past. The number of treated children was small and gene analysis was restricted to PTPN11, excluding the recent discovered candidate genes KRAS, RAF1 and SOS1. All 3 studies showed that GH responsiveness was mildly reduced in the presence of PTPN11 mutations; relevant long-term data, however, are missing. In a small subgroup of patients with NS, tumor risk is increased and related to specific mutations of Ras-MAPK pathway genes, including PTPN11. Therefore, when long-term GH therapy is intended to promote growth in children with NS, it has to be considered in relation to the genotype, the effective promotion of growth and the potentially increased tumor risk. Progress in the understanding of cell regulation by Ras-MAPK signaling will hopefully provide more evidence on which therapy might be helpful in the care of children with NS.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"72 Suppl 2 ","pages":"52-6"},"PeriodicalIF":0.0,"publicationDate":"2009-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000243781","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28609664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 12

Noonan syndrome: introduction and basic clinical features. 努南综合征:介绍及基本临床特征。

Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243772

T Rohrer

引用次数: 21

Juvenile idiopathic arthritis: classification, clinical presentation and current treatments. 青少年特发性关节炎:分类、临床表现及治疗现状。

Hormone research Pub Date : 2009-11-01 Epub Date: 2009-11-27 DOI: 10.1159/000229757

Gunther E Dannecker, Pierre Quartier

{"title":"Juvenile idiopathic arthritis: classification, clinical presentation and current treatments.","authors":"Gunther E Dannecker, Pierre Quartier","doi":"10.1159/000229757","DOIUrl":"https://doi.org/10.1159/000229757","url":null,"abstract":"Background: The term juvenile idiopathic arthritis (JIA) describes a clinically heterogeneous group of arthritides. The onset in all subgroups is before 16 years of age, but each group presents with different clinical signs and symptoms. The cause of the disease is unknown, but both genetic and environmental factors are believed to be involved. Management of the disease has greatly improved in recent years due to advances in pharmacologic treatment options (especially with new biologic agents) and the prognosis for patients is better than ever before. However, none of the available drugs has a curative potential. This review provides an overview on the classification and the clinical symptoms of the defined subgroups of JIA as well as pharmacotherapies for it.Conclusions: Treatment of children with JIA is challenging and complex. Since lengthy therapy might be necessary, a multidisciplinary pediatric rheumatology team is crucial for optimal treatment. Although a cure is unknown at this time, adequate treatment aims to preserve function of the joints as well as normal childhood development.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"72 Suppl 1 ","pages":"4-12"},"PeriodicalIF":0.0,"publicationDate":"2009-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000229757","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28530089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 25

Adult outcomes of patients with juvenile idiopathic arthritis. 青少年特发性关节炎患者的成人预后。

Hormone research Pub Date : 2009-11-01 Epub Date: 2009-11-27 DOI: 10.1159/000229759

Kirsten Minden

引用次数: 99

Mechanisms of impaired growth: effect of steroids on bone and cartilage. 生长受损的机制:类固醇对骨和软骨的影响。

Hormone research Pub Date : 2009-11-01 Epub Date: 2009-11-27 DOI: 10.1159/000229761

Robert C Olney

{"title":"Mechanisms of impaired growth: effect of steroids on bone and cartilage.","authors":"Robert C Olney","doi":"10.1159/000229761","DOIUrl":"https://doi.org/10.1159/000229761","url":null,"abstract":"Background: Long-term treatment with high-dose glucocorticoids (GCs) has profound effects on bone metabolism and linear growth. Bone metabolism is a balance between bone resorption by osteoclasts and new bone formation by osteoblasts. Systemically, GC treatment reduces circulating levels of estrogen and modestly increases parathyroid hormone levels. At the local level, GCs decrease insulin-like growth factor I (IGF-I) production, induce IGF-I resistance and increase nuclear factor kappaB ligand production by osteoblasts. These alterations inhibit new bone formation and stimulate bone resorption, with a net loss of bone over time. Clinically, this results in decreased bone mineral density, osteoporosis and increased risk for fracture. Local effects of GCs at the growth plate include reduction of IGF-I production, inducing IGF-I resistance and reducing production of C-type natriuretic peptide, which results in a reduction of chondrocyte proliferation, matrix synthesis and hypertrophy. These reductions in chondrocyte function result in decreased linear growth.Conclusions: The effects of GCs on bone metabolism and linear growth are sensitive and specific and represent an evolutionary adaptation to redirect resources during times of physiologic stress. Since many of these effects result from alterations in IGF-I production, growth hormone therapy is a potential approach to ameliorate these problems.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"72 Suppl 1 ","pages":"30-5"},"PeriodicalIF":0.0,"publicationDate":"2009-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000229761","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28530093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 66

Mechanisms of muscle atrophy induced by glucocorticoids. 糖皮质激素诱导肌肉萎缩的机制。

Hormone research Pub Date : 2009-11-01 Epub Date: 2009-11-27 DOI: 10.1159/000229762

O Schakman, H Gilson, S Kalista, J P Thissen

{"title":"Mechanisms of muscle atrophy induced by glucocorticoids.","authors":"O Schakman, H Gilson, S Kalista, J P Thissen","doi":"10.1159/000229762","DOIUrl":"https://doi.org/10.1159/000229762","url":null,"abstract":"Background: Many pathological states characterized by muscle atrophy (e.g., sepsis, cachexia, starvation, metabolic acidosis and severe insulinopenia) are associated with an increase in circulating glucocorticoid (GC) levels, suggesting that GC could trigger the muscle atrophy observed in these conditions. GC-induced muscle atrophy results from decreased protein synthesis and increased protein degradation. The inhibitory effect of GCs on protein synthesis is thought to result mainly from the inhibition of the p70 ribosomal S6 protein kinase. The stimulatory effect of GCs on muscle proteolysis results from the activation of two major cellular proteolytic systems: ubiquitin proteasome and lysosomal systems. The decrease in muscle production of insulin-like growth factor I (IGF-I), a muscle anabolic growth factor, could contribute to GC-induced muscle atrophy. By activating the phosphatidylinositol-3-kinase/Akt pathway, IGF-I overrides GC action to stunt muscle atrophy. Evidence also indicates that increased production of myostatin, a catabolic growth factor, could play a critical role in GC-induced muscle atrophy.Conclusions: Recent progress in understanding the role of growth factors in GC-induced muscle atrophy allows investigation into new therapies to minimize this myopathy.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"72 Suppl 1 ","pages":"36-41"},"PeriodicalIF":0.0,"publicationDate":"2009-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000229762","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28530094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 119

Effects of growth hormone treatment in juvenile idiopathic arthritis: bone and body composition. 生长激素治疗对幼年特发性关节炎的影响:骨骼和身体成分。

Hormone research Pub Date : 2009-11-01 Epub Date: 2009-11-27 DOI: 10.1159/000229766

S Bechtold, R Dalla Pozza, H P Schwarz, D Simon

{"title":"Effects of growth hormone treatment in juvenile idiopathic arthritis: bone and body composition.","authors":"S Bechtold, R Dalla Pozza, H P Schwarz, D Simon","doi":"10.1159/000229766","DOIUrl":"https://doi.org/10.1159/000229766","url":null,"abstract":"Background: Inflammation and glucocorticoid therapy are major factors influencing growth and bone maturation in patients with juvenile idiopathic arthritis (JIA). In addition to alterations in total bone mineral density and bone geometry, longitudinal data confirm that the main contributors to errant bone maturation in patients with JIA are reductions in muscle mass and force. Growth hormone (GH) therapy, which has shown efficacy in controlling disease, may also positively influence body composition. For several years, GH therapy has been used to treat growth retardation in patients with JIA receiving glucocorticoids. GH therapy normalizes growth velocity, increases height, bone mineral density and bone mass and changes bone geometry. Despite ongoing glucocorticoid therapy, muscle mass and bone size substantially increase with GH therapy. Increased bone size suggests improved bone stability, which may reduce fracture risk. Along with the increase in muscle mass, patients experience stabilized or slightly decreased fat mass during GH therapy.Conclusions: All these effects suggest an anabolic effect of GH therapy on bone and body composition.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"72 Suppl 1 ","pages":"60-4"},"PeriodicalIF":0.0,"publicationDate":"2009-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000229766","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28531085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 17

Safety of growth hormone treatment in children with juvenile idiopathic arthritis. 生长激素治疗儿童特发性关节炎的安全性。

Hormone research Pub Date : 2009-11-01 Epub Date: 2009-11-27 DOI: 10.1159/000229767

Dominique Simon

引用次数: 11

Growth and development abnormalities in children with juvenile idiopathic arthritis: treatment and prevention. 儿童特发性关节炎的生长发育异常:治疗和预防。

Hormone research Pub Date : 2009-11-01 Epub Date: 2009-11-27 DOI: 10.1159/000229756

Paul Czernichow

引用次数: 6

The impact of chronic inflammation on the growing skeleton: lessons from interleukin-6 transgenic mice. 慢性炎症对骨骼生长的影响:来自白细胞介素-6转基因小鼠的经验教训。

Hormone research Pub Date : 2009-11-01 Epub Date: 2009-11-27 DOI: 10.1159/000229760

F De Benedetti

{"title":"The impact of chronic inflammation on the growing skeleton: lessons from interleukin-6 transgenic mice.","authors":"F De Benedetti","doi":"10.1159/000229760","DOIUrl":"https://doi.org/10.1159/000229760","url":null,"abstract":"Background: Chronic inflammatory diseases in children are associated with impairment of linear growth and bone mineral accrual. In addition to poor nutrition, reduced mobility and glucocorticoid treatment, several observations in patients suggest that inflammation itself may have a direct detrimental effect on the growing skeletal system. Among the various inflammatory cytokines produced during the inflammatory response, data in animals suggest that interleukin-6 (IL-6) may mediate the effects of inflammation on the developing skeleton. Mice overexpressing IL-6 during the prepubertal stage show stunted growth, abnormalities of the insulin-like growth factor I system, defective growth plates, delayed development of ossification centres, uncoupling of osteoblast and osteoclast activity and defective ossification. These changes appear to mirror the features observed in children with chronic inflammatory diseases.Conclusions: The tissue, cellular and molecular abnormalities reviewed provide a rationale for therapeutic approaches aimed at correcting the detrimental effects of inflammation on the developing skeletal system.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"72 Suppl 1 ","pages":"26-9"},"PeriodicalIF":0.0,"publicationDate":"2009-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000229760","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28530092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2