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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
{"title":"Noonan syndrome: introduction and basic clinical features.","authors":"T Rohrer","doi":"10.1159/000243772","DOIUrl":"https://doi.org/10.1159/000243772","url":null,"abstract":"<p><p>Noonan syndrome (NS) is a fairly common (1 per 1,000-2,500 live births) autosomal dominantly inherited disorder and the most common syndromal cause of congenital heart disease after Down's syndrome. The clinical features vary with age, but typical signs of NS include characteristic facial features with hypertelorism, down-slanting palpebral fissures, low-set posteriorly rotated ears, chest and spinal deformities, short stature, specific heart defects, learning disabilities and mild mental retardation. This article gives a brief introduction to NS and its basic clinical features using the established and generally accepted NS scoring system based on family history and facial, cardiac, growth, chest wall and other criteria. Aspects discussed include the definition, epidemiology, etiology, diagnosis and genetics of NS, as well as growth, skeletal and gonadal anomalies, pubertal development, ophthalmic and cutaneous abnormalities and the incidence of cancer in patients with NS.</p>","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2009-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000243772","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28609735","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: 21
Malignant diseases in Noonan syndrome and related disorders. 努南综合征及相关疾病的恶性疾病。
Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243773
Henrik Hasle
{"title":"Malignant diseases in Noonan syndrome and related disorders.","authors":"Henrik Hasle","doi":"10.1159/000243773","DOIUrl":"https://doi.org/10.1159/000243773","url":null,"abstract":"<p><p>The overall risk of cancer in children with Noonan (NS), cardio-facial-cutaneous, Costello or LEOPARD syndrome is high, although no precise estimates are available. There are few data on cancer in adults with NS, but the reported numbers of malignancies in adults do not seem excessive. Juvenile myelomonocytic leukemia (JMML) is a rare aggressive leukemia in young children. A JMML-like myeloproliferative disorder has been described in about 30 neonates with NS and the PTPN11 mutation. The disorder often regresses spontaneously, but fatal complications may occur. A review of the literature indicates an increased risk of acute lymphoblastic leukemia and acute myeloid leukemia in NS. Young children with Costello syndrome have an extremely high risk of rhabdomyosarcoma, and also an increased risk of neuroblastoma and bladder carcinoma. Registry-based studies of patients with NS and related disorders diagnosed with molecular genetics and a high-quality long-term follow-up are necessary to further estimate the incidence of malignancy.</p>","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2009-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000243773","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28609736","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: 63
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,&nbsp;Pierre Quartier","doi":"10.1159/000229757","DOIUrl":"https://doi.org/10.1159/000229757","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"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
{"title":"Adult outcomes of patients with juvenile idiopathic arthritis.","authors":"Kirsten Minden","doi":"10.1159/000229759","DOIUrl":"https://doi.org/10.1159/000229759","url":null,"abstract":"<p><strong>Background: </strong>Knowledge of the long-term outcomes of patients with juvenile idiopathic arthritis (JIA) has evolved during the past decade. Recent studies, using standardized classification criteria, new and reliable outcome measures and improved methods of statistical analyses, show that outcomes are still less than ideal. Approximately half of all young adults with JIA have ongoing active disease and over one third experience detectable degrees of disability and organ damage. These patients also show a distinctive pattern of growth disturbances. Most patients with general growth failure have systemic or polyarticular disease: significant short stature (final height standard deviation score <-2) has been noted in 41% of patients with systemic JIA and in 11% of patients with polyarticular JIA. In contrast, localized growth disturbances can be seen in patients with oligoarthritis.</p><p><strong>Conclusions: </strong>Despite its name, JIA can be a lifelong disorder. With early and more widespread use of biological and other innovative therapies, however, outcomes for patients with JIA should improve further.</p>","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2009-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000229759","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28530091","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: 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":"<p><strong>Background: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"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,&nbsp;H Gilson,&nbsp;S Kalista,&nbsp;J P Thissen","doi":"10.1159/000229762","DOIUrl":"https://doi.org/10.1159/000229762","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Conclusions: </strong>Recent progress in understanding the role of growth factors in GC-induced muscle atrophy allows investigation into new therapies to minimize this myopathy.</p>","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"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,&nbsp;R Dalla Pozza,&nbsp;H P Schwarz,&nbsp;D Simon","doi":"10.1159/000229766","DOIUrl":"https://doi.org/10.1159/000229766","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Conclusions: </strong>All these effects suggest an anabolic effect of GH therapy on bone and body composition.</p>","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"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
{"title":"Safety of growth hormone treatment in children with juvenile idiopathic arthritis.","authors":"Dominique Simon","doi":"10.1159/000229767","DOIUrl":"https://doi.org/10.1159/000229767","url":null,"abstract":"<p><strong>Background: </strong>Available data on growth hormone (GH) therapy in glucocorticoid-treated children with juvenile idiopathic arthritis (JIA) suggest a satisfactory safety profile. There have been few reports of adverse effects on the course of the joint disease (e.g., inflammatory flare-ups or osteoarticular complications). Despite strong concern that combined glucocorticoid and GH therapy might impair glucose tolerance, this has been uncommon in clinical trials. This article briefly reviews the published data and offers recommendations for monitoring patients with JIA who are receiving GH replacement therapy.</p><p><strong>Conclusions: </strong>The safety of GH therapy in children receiving glucocorticoid therapy for JIA seems satisfactory with few serious adverse events reported to date; however, given the small number of treated patients and the short periods of follow-up in each individual patient, the decision to initiate GH therapy in patients receiving glucocorticoids should be made cautiously.</p>","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2009-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000229767","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28531086","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: 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
{"title":"Growth and development abnormalities in children with juvenile idiopathic arthritis: treatment and prevention.","authors":"Paul Czernichow","doi":"10.1159/000229756","DOIUrl":"https://doi.org/10.1159/000229756","url":null,"abstract":"","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2009-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000229756","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28530682","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: 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":"<p><strong>Background: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"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
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