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塞尔希培州对 GH 研究的贡献:从苏扎莱伊特到伊塔巴因哈综合征。

The state of Sergipe contribution to GH research: from Souza Leite to Itabaianinha syndrome.

机构信息

Divisão de Endocrinologia, Programa de Pós-graduação em Ciências da Saúde, Universidade Federal de Sergipe, Aracaju, SE, Brasil,

Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, The Johns Hopkins University School of Medicine Baltimore, Maryland, USA.

出版信息

Arch Endocrinol Metab. 2022 Nov 17;66(6):919-928. doi: 10.20945/2359-3997000000567.

DOI:10.20945/2359-3997000000567
PMID:36394485
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10118753/
Abstract

In the late 19 century, José Dantas de Souza Leite, a physician born in Sergipe, published the first detailed clinical description of acromegaly under the guidance of the French neurologist Pierre Marie. In 2014, the Brazilian Society of Endocrinology and Metabolism created the "José Dantas de Souza Leite Award", which is granted every two years to a Brazilian researcher who has contributed to the development of endocrinology. In 2022, the award was given to another physician from Sergipe, Manuel Hermínio de Aguiar Oliveira, from the Federal University of Sergipe for the description of "Itabaianinha syndrome" in a cohort of individuals with isolated GH deficiency due to a homozygous inactivating mutation in the GH-releasing hormone receptor gene. This research, which was carried out over almost 30 years, was performed in partnership with Roberto Salvatori from Johns Hopkins University and in collaboration with other researchers around the world. This review article tells the story of Souza Leite, some milestones in the history of GH, and summarizes the description of Itabaianinha syndrome.

摘要

19 世纪末期,出生于塞尔希培州的内科医师何塞·丹塔斯·德苏扎·莱特在法国神经学家皮埃尔·玛丽的指导下,发表了肢端肥大症的首个详细临床描述。2014 年,巴西内分泌学会设立了“何塞·丹塔斯·德苏扎·莱特奖”,每两年颁发给一位为内分泌学发展做出贡献的巴西研究人员。2022 年,该奖项授予塞尔希培州另一位内科医师曼努埃尔·赫米尼奥·德阿吉亚尔·奥利韦拉,他在因生长激素释放激素受体基因纯合失活突变而导致孤立性生长激素缺乏的个体队列中描述了“伊塔巴亚宁哈综合征”。这项研究历时近 30 年,与约翰霍普金斯大学的罗伯托·萨尔瓦托里合作完成,并与世界各地的其他研究人员合作开展。这篇综述文章讲述了苏扎·莱特的故事、生长激素的一些里程碑,以及总结了伊塔巴亚宁哈综合征的描述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a89/10118753/1c21c6336f21/2359-4292-aem-66-06-0919-gf01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a89/10118753/1c21c6336f21/2359-4292-aem-66-06-0919-gf01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a89/10118753/1c21c6336f21/2359-4292-aem-66-06-0919-gf01.jpg

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本文引用的文献

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Growth of teeth and bones in adult subjects with congenital untreated isolated growth hormone deficiency.成年先天性孤立性生长激素缺乏症未治疗患者的牙齿和骨骼生长。
Growth Horm IGF Res. 2022 Aug;65:101469. doi: 10.1016/j.ghir.2022.101469. Epub 2022 May 19.
2
Dental arches in inherited severe isolated growth hormone deficiency.遗传性严重孤立性生长激素缺乏症的牙弓。
Growth Horm IGF Res. 2022 Feb;62:101444. doi: 10.1016/j.ghir.2022.101444. Epub 2022 Jan 18.
3
Circulating microRNA profile in humans and mice with congenital GH deficiency.
生长激素缺乏症的常见和罕见小鼠模型。
Endocr Rev. 2024 Nov 22;45(6):818-842. doi: 10.1210/endrev/bnae017.
4
Skin assessment in congenital untreated isolated GH deficiency.先天性未治疗孤立性 GH 缺乏症的皮肤评估。
Endocrine. 2024 Jun;84(3):1116-1124. doi: 10.1007/s12020-024-03840-1. Epub 2024 May 4.
5
Brain morphometry and estimation of aging brain in subjects with congenital untreated isolated GH deficiency.先天性未经治疗的孤立性 GH 缺乏症患者的大脑形态计量学和衰老大脑的估计。
J Endocrinol Invest. 2024 Nov;47(11):2797-2807. doi: 10.1007/s40618-024-02372-9. Epub 2024 Apr 16.
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Function and form of the shoulder in congenital and untreated growth hormone deficiency.先天性和未经治疗的生长激素缺乏症患者的肩部功能和形态。
Endocrine. 2023 Sep;81(3):547-554. doi: 10.1007/s12020-023-03391-x. Epub 2023 May 17.
先天性生长激素缺乏症患者的循环 microRNA 谱。
Aging Cell. 2021 Jul;20(7):e13420. doi: 10.1111/acel.13420. Epub 2021 Jun 12.
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