Endocrine development最新文献_第7页

Beta-Cell Replacement: Pancreas and Islet Cell Transplantation. 细胞替代:胰腺和胰岛细胞移植。

Endocrine development Pub Date : 2016-01-01 DOI: 10.1159/000439412

N. Niclauss, R. Meier, B. Bédat, E. Berishvili, T. Berney

{"title":"Beta-Cell Replacement: Pancreas and Islet Cell Transplantation.","authors":"N. Niclauss, R. Meier, B. Bédat, E. Berishvili, T. Berney","doi":"10.1159/000439412","DOIUrl":"https://doi.org/10.1159/000439412","url":null,"abstract":"Pancreas and islet transplantation are 2 types of beta-cell replacement therapies for type 1 diabetes mellitus. Since 1966, when pancreas transplantation was first performed, it has evolved to become a highly efficient procedure with high success rates, thanks to advances in surgical technique and immunosuppression. Pancreas transplantation is mostly performed as simultaneous pancreas-kidney transplantation in patients with end-stage nephropathy secondary to diabetes. In spite of its efficiency, pancreas transplantation is still a major surgical procedure burdened by high morbidity, which called for the development of less invasive and hazardous ways of replacing beta-cell function in the past. Islet transplantation was developed in the 1970s as a minimally invasive procedure with initially poor outcomes. However, since the report of the 'Edmonton protocol' in 2000, the functional results of islet transplantation have substantially and constantly improved and are about to match those of whole pancreas transplantation. Islet transplantation is primarily performed alone in nonuremic patients with severe hypoglycemia. Both pancreas transplantation and islet transplantation are able to abolish hypoglycemia and to prevent or slow down the development of secondary complications of diabetes. Pancreas transplantation and islet transplantation should be seen as two complementary, rather than competing, therapeutic approaches for beta-cell replacement that are able to optimize organ donor use and patient care.","PeriodicalId":72906,"journal":{"name":"Endocrine development","volume":"31 1","pages":"146-62"},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000439412","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64905900","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: 26

Genetics of Type 2 Diabetes. 2型糖尿病的遗传学。

Endocrine development Pub Date : 2016-01-01 DOI: 10.1159/000439418

A. Stančáková, M. Laakso

{"title":"Genetics of Type 2 Diabetes.","authors":"A. Stančáková, M. Laakso","doi":"10.1159/000439418","DOIUrl":"https://doi.org/10.1159/000439418","url":null,"abstract":"Genetic and environmental factors as well as their interactions contribute to the pathogenesis of type 2 diabetes. Linkage analysis, candidate gene approaches, genome-wide association studies, and sequencing have been used in the identification of common, low-frequency and rare variants for type 2 diabetes. Genome-wide association studies have identified >80 common variants for type 2 diabetes, with small effect sizes (risk of type 2 diabetes increased by 5-40%). Almost all of these variants regulate insulin secretion, and only a few regulate insulin sensitivity. Common variants capture only ∼10% of the heritability of type 2 diabetes. Low-frequency and rare variants with large effects have also been identified, but their contribution to 'missing heritability' at the population level is limited. Gene-environment and gene-gene interactions and epigenetics are likely to contribute to the missing heritability of type 2 diabetes. Epigenetic factors (DNA methylations and histone modifications) are especially important because they might mediate the effects of environmental exposures on the risk of type 2 diabetes. Although understanding of the genetics of type 2 diabetes has exhibited great progress in the past few years, a substantial amount of additional work will be required to identify causal variants/genes and molecular mechanisms via which the association signals found confer diabetes risk.","PeriodicalId":72906,"journal":{"name":"Endocrine development","volume":"31 1","pages":"203-20"},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000439418","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64906516","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: 29

Osteoporosis in Children with Chronic Disease. 慢性疾病儿童骨质疏松症。

Endocrine development Pub Date : 2015-01-01 Epub Date: 2015-06-12 DOI: 10.1159/000381045

Wolfgang Högler, Leanne Ward

引用次数: 30

A Practical Clinical Approach to Paediatric Phosphate Disorders. 儿科磷酸盐障碍的实用临床方法。

Endocrine development Pub Date : 2015-01-01 Epub Date: 2015-06-12 DOI: 10.1159/000381036

Erik A Imel, Thomas O Carpenter

引用次数: 12

A Practical Approach to Hypocalcaemia in Children. 治疗儿童低钙血症的实用方法。

Endocrine development Pub Date : 2015-01-01 Epub Date: 2015-06-12 DOI: 10.1159/000380997

Nick J Shaw

引用次数: 18

Skeletal Dysplasias: An Overview. 骨骼发育不良:综述。

Endocrine development Pub Date : 2015-01-01 Epub Date: 2015-06-12 DOI: 10.1159/000381051

Amaka C Offiah

{"title":"Skeletal Dysplasias: An Overview.","authors":"Amaka C Offiah","doi":"10.1159/000381051","DOIUrl":"https://doi.org/10.1159/000381051","url":null,"abstract":"Constitutional disorders of bone, commonly termed skeletal dysplasias (SDs), are inherited disorders of cartilage and/or bone that affect their growth, morphometry and integrity. Associated skeletal abnormalities are usually but not invariably symmetrical. They may be classified as osteochondrodysplasias, which are conditions associated with abnormalities of the growth (dysplasias) or texture (osteodystrophy) of bone and/or cartilage, or dysostoses, which are conditions secondary to abnormal blastogenesis (occurring at or around the 6th week of in utero life). Skeletal involvement may also occur in other multisystem hereditary and acquired syndromes. The 2010 Nosology and Classification of Genetic Skeletal Disorders listed 456 conditions, of which approximately 50 are perinatally lethal, and 316 are associated with one or more of 226 genes. When an SD is suspected, a standard series of radiographs, collectively known as a skeletal survey, should be performed. The diagnosis of individual conditions is highly dependent on radiographic pattern recognition, which is achieved through a systematic review of the images and enhanced by discussion with colleagues and through the use of available tools, such as atlases and digital databases. This article summarises a systematic approach to the diagnosis of SDs, demonstrated using examples of some of the more common lethal and non-lethal conditions.","PeriodicalId":72906,"journal":{"name":"Endocrine development","volume":"28 ","pages":"259-276"},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000381051","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34258314","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: 24

Drugs Used in Paediatric Bone and Calcium Disorders. 用于儿童骨和钙疾病的药物。

Endocrine development Pub Date : 2015-01-01 Epub Date: 2015-06-12 DOI: 10.1159/000381053

Moira S Cheung

{"title":"Drugs Used in Paediatric Bone and Calcium Disorders.","authors":"Moira S Cheung","doi":"10.1159/000381053","DOIUrl":"https://doi.org/10.1159/000381053","url":null,"abstract":"Calcium and bone disorders in children and adolescents are treated with a wide variety of drugs. Several of these drugs have been used for many years on the basis of accepted practice, without being subjected to rigorous trials. Bisphosphonates are the mainstay treatment for children with osteoporosis, but newer, more potent compounds such as zoledronate and risedronate have begun to replace the older-generation bisphosphonates. Hypocalcaemia is managed with calcium and vitamin D and its metabolites. In difficult cases that are secondary to hypoparathyroidism, subcutaneous injections or infusions of parathyroid hormone have been used. Multiple daily phosphate supplements and calcitriol are the standard treatment for hypophosphataemic rickets, but trials of an anti-fibroblast growth factor 23 antibody appear promising, and the results are eagerly awaited. Many new medications are undergoing clinical trials and are starting to emerge as viable treatment options for children. Some of these drugs target specific diseases, such as recombinant alkaline phosphatase for hypophosphatasia and a C-type natriuretic peptide analogue for achondroplasia. Other drugs, such as denosumab and odanacatib, have been used successfully in the adult population, and the appropriate use of these drugs in children is now being evaluated.","PeriodicalId":72906,"journal":{"name":"Endocrine development","volume":"28 ","pages":"277-290"},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000381053","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34258316","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: 9

Radiology of Osteogenesis Imperfecta, Rickets and Other Bony Fragility States. 成骨不全、佝偻病和其他骨质脆弱状态的影像学研究。

Endocrine development Pub Date : 2015-01-01 Epub Date: 2015-06-12 DOI: 10.1159/000380992

Alistair D Calder

{"title":"Radiology of Osteogenesis Imperfecta, Rickets and Other Bony Fragility States.","authors":"Alistair D Calder","doi":"10.1159/000380992","DOIUrl":"https://doi.org/10.1159/000380992","url":null,"abstract":"This section gives an overview of radiological findings in bony fragility states, with a special focus on osteogenesis imperfecta (OI) and rickets. Conventional radiological assessment of bone density is inaccurate and imprecise and only reliably detects severe osteopaenia. However, other aspects of bone structure and morphology can be assessed, and it is possible to distinguish between osteopaenic and osteomalacic states. OI is a heterogeneous group of disorders of type 1 collagen formation and processing that are characterised by varying degrees of bony fragility, with presentations varying from perinatal lethality to asymptomatic. Radiological diagnosis of severe forms is usually straightforward, but that of milder disease may be challenging because specific features are often absent. However, a multidisciplinary approach is usually successful. Features of OI, including Wormian bones, skull base deformities, vertebral involvement and long bone fractures and deformities, are reviewed in this section. Rickets is best defined as a disorder of the growth plate characterised by the impaired apoptosis of hypertrophied chondrocytes. Vitamin D deficiency is a common cause of rickets. The patho-anatomical basis of radiological findings in rickets is reviewed and illustrated. Rickets is frequently accompanied by hyperparathyroidism and osteomalacia. Rickets used to be classified as calciopaenic or phosphopaenic but is now referred to as parathyroid hormone or fibroblast growth factor 23 mediated, respectively [1]. The radiological features of the two forms are reviewed.","PeriodicalId":72906,"journal":{"name":"Endocrine development","volume":"28 ","pages":"56-71"},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000380992","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33875256","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: 13

Physiology of Calcium, Phosphate, Magnesium and Vitamin D. 钙、磷酸盐、镁和维生素D的生理学。

Endocrine development Pub Date : 2015-01-01 Epub Date: 2015-06-12 DOI: 10.1159/000380990

Jeremy Allgrove

{"title":"Physiology of Calcium, Phosphate, Magnesium and Vitamin D.","authors":"Jeremy Allgrove","doi":"10.1159/000380990","DOIUrl":"https://doi.org/10.1159/000380990","url":null,"abstract":"The physiology of calcium and the other minerals involved in its metabolism is complex and intimately linked to the physiology of bone. Five principal humoral factors are involved in maintaining plasma concentrations of calcium, magnesium and phosphate and in coordinating the balance between their content in bone. The transmembrane transport of these elements is dependent on a series of complex mechanisms that are partly controlled by these hormones. The plasma concentration of calcium is initially sensed by a calcium-sensing receptor, which then sets up a cascade of events that initially determines parathyroid hormone secretion and eventually results in a specific action within the target organs, mainly bone and kidney. This chapter describes the physiology of these humoral factors and relates them to the pathological processes that give rise to disorders of calcium, phosphate and magnesium metabolism as well as of bone metabolism. This chapter also details the stages in the calcium cascade, describes the effects of calcium on the various target organs, gives details of the processes by which phosphate and magnesium are controlled and summarises the metabolism of vitamin D. The pathology of disorders of bone and calcium metabolism is described in detail in the relevant chapters.","PeriodicalId":72906,"journal":{"name":"Endocrine development","volume":"28 ","pages":"7-32"},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000380990","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33875254","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: 45

Primary Osteoporosis. 原发性骨质疏松症。

Endocrine development Pub Date : 2015-01-01 Epub Date: 2015-06-12 DOI: 10.1159/000381037

Paul Arundel, Nick Bishop

{"title":"Primary Osteoporosis.","authors":"Paul Arundel, Nick Bishop","doi":"10.1159/000381037","DOIUrl":"https://doi.org/10.1159/000381037","url":null,"abstract":"Primary osteoporosis in childhood encompasses a range of bone fragility conditions that typically have a genetic origin. Understanding of the pathophysiology and genetics of primary osteoporosis has increased dramatically over the past 10 years. The clinical manifestations and consequences of the disease range from mild to severe, with the degree of growth retardation and bony deformity reflecting the severity and the underlying pathology. In children, primary osteoporosis is most commonly caused by one of the forms of osteogenesis imperfecta, which comprises a group of disorders characterised by abnormalities in type I collagen synthesis or processing. Diagnosis of any primary osteoporotic condition depends on the clinical history and examination but may be supported by other investigations, including various imaging techniques, histology and genetic analyses. Good management requires a multidisciplinary approach involving paediatricians, surgeons and allied health professionals, amongst others. Bisphosphonate therapy has revolutionised the approach to management and has positively modified outcomes for many children and their families. Physiotherapy and occupational therapy are the keys to optimising independence in mobility and daily living. Surgery is required in many severe cases to straighten limbs or stabilise the spine. Bisphosphonates remain the mainstay of medical treatment, but there are a number of alternative therapeutic agents under investigation that may further improve management of primary osteoporosis in children over the coming years.","PeriodicalId":72906,"journal":{"name":"Endocrine development","volume":"28 ","pages":"162-175"},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000381037","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34255624","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: 5