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Titlebook: Congenital Hyperinsulinism; A Practical Guide to Diva D. De León-Crutchlow,Charles A. Stanley Book 2019 Springer Nature Switzerland AG 2019

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发表于 2025-3-21 18:22:33 | 显示全部楼层 |阅读模式
书目名称Congenital Hyperinsulinism
副标题A Practical Guide to
编辑Diva D. De León-Crutchlow,Charles A. Stanley
视频videohttp://file.papertrans.cn/236/235504/235504.mp4
概述A practical guide for diagnosing and managing neonates, infants and children with congenital hyperinsulinism (HI).Discusses the diagnosis and medical and surgical management of diazoxide-responsive, d
丛书名称Contemporary Endocrinology
图书封面Titlebook: Congenital Hyperinsulinism; A Practical Guide to Diva D. De León-Crutchlow,Charles A. Stanley Book 2019 Springer Nature Switzerland AG 2019
描述This unique book is a practical guide for the clinician faced with the challenge of diagnosing and managing neonates, infants and children with congenital hyperinsulinism (HI), within the framework of pathophysiology and molecular genetics. Major advances have been made in HI research over the past two decades, and with this better understanding of the molecular genetics of HI, a “personalized” approach to management according to the type of hyperinsulinism, and particularly according to the likelihood of focal hyperinsulinism, is starting to emerge. The opening chapter discusses HI diagnosis using biochemical approaches and phenotype characterization. The various forms of HI are then presented in detail in three main categories: diazoxide-responsive, diazoxide-unresponsive and syndromic HI. Both medical and surgical management strategies are then discussed, covering imaging, histology, surgical approach, and post-operative management. Complications, such as feeding problems, andlong-term outcomes, such as neurodevelopmental issues, are carefully considered in the final chapter..Practical and user-friendly, .Congenital Hyperinsulinism. is the go-to resource for pediatric endocrinol
出版日期Book 2019
关键词18FDOPA PET; Beckwith Wiedemann syndrome; Congenital hyperinsulism; Diazoxide-responsive hyperinsulinis
版次1
doihttps://doi.org/10.1007/978-3-030-02961-6
isbn_ebook978-3-030-02961-6Series ISSN 2523-3785 Series E-ISSN 2523-3793
issn_series 2523-3785
copyrightSpringer Nature Switzerland AG 2019
The information of publication is updating

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Diazoxide-Unresponsive Forms of Congenital Hyperinsulinism,ast five days . Inactivating mutations in the genes encoding the two subunits of the beta-cell ATP-sensitive potassium (KATP) channel are the most frequent cause of diazoxide-unresponsive hyperinsulinism. Children with KATPHI typically present at birth with severe hypoglycemia. Genetic testing can b
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Syndromic Causes of Congenital Hyperinsulinism,d related to mechanisms within the pancreatic beta cell, several genetic syndromes have been linked to hyperinsulinism. These include Beckwith-Wiedemann syndrome, Sotos syndrome, Kabuki syndrome, and Turner syndrome. All of these syndromes have been noted to occur with subtle presentations with hype
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Molecular Diagnosis of Congenital Hyperinsulinism,mely genetic diagnosis is clinically important for patients since understanding the underlying genetic cause of the disease can guide the clinician in both medical and surgical management. In children who are unresponsive to medical treatment with diazoxide and thus will require pancreatectomy, a ge
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18F-DOPA PET,nagement. Over the past 20 years, it has become clear that some patients with severe disease that is unresponsive to medical therapy may benefit from pancreatectomy. One of the big challenges has been distinguishing between two histopathologic forms of HI, diffuse disease, which is not curable, and
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Perioperative Management of Hyperinsulinism,rition, close attention must be paid to glucose management as the child’s glucose needs change throughout the perioperative course. A standardized approach to their perioperative care is essential to ensure an optimal recovery.
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