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1
An obese young man with uncontrolled diabetes and insatiable hunger: Prader-Willi syndrome.一名患有未控制糖尿病且食欲亢进的肥胖青年男性:普拉德-威利综合征。
Indian J Endocrinol Metab. 2013 Dec;17(Suppl 3):S680-2. doi: 10.4103/2230-8210.123566.
2
Parent Recommendations for Family Functioning With Prader-Willi Syndrome: A Rare Genetic Cause of Childhood Obesity.普拉德-威利综合征家庭功能的家长建议:儿童肥胖的罕见遗传原因
J Pediatr Nurs. 2016 Jan-Feb;31(1):47-54. doi: 10.1016/j.pedn.2015.11.001. Epub 2015 Dec 10.
3
Metabolic syndrome in adult patients with Prader-Willi syndrome.成年普拉德-威利综合征患者的代谢综合征。
Nutr Metab Cardiovasc Dis. 2013 Nov;23(11):1134-40. doi: 10.1016/j.numecd.2012.11.006. Epub 2012 Dec 7.
4
In adults with Prader-Willi syndrome, elevated ghrelin levels are more consistent with hyperphagia than high PYY and GLP-1 levels.在普拉德-威利综合征的成年人中,升高的 ghrelin 水平与贪食症更为一致,而不是与高 PYY 和 GLP-1 水平相关。
Neuropeptides. 2011 Aug;45(4):301-7. doi: 10.1016/j.npep.2011.06.001. Epub 2011 Jul 1.
5
Obesity management in Prader-Willi syndrome: current perspectives.普拉德-威利综合征的肥胖管理:当前观点
Diabetes Metab Syndr Obes. 2018 Oct 4;11:579-593. doi: 10.2147/DMSO.S141352. eCollection 2018.
6
Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.普拉德-威利综合征:临床、遗传及内分泌学研究结果综述
J Endocrinol Invest. 2015 Dec;38(12):1249-63. doi: 10.1007/s40618-015-0312-9. Epub 2015 Jun 11.
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Clinical implications of gait analysis in the rehabilitation of adult patients with "Prader-Willi" Syndrome: a cross-sectional comparative study ("Prader-Willi" Syndrome vs matched obese patients and healthy subjects).步态分析在成年“普拉德-威利”综合征患者康复中的临床意义:一项横断面比较研究(“普拉德-威利”综合征与匹配的肥胖患者及健康受试者对比)
J Neuroeng Rehabil. 2007 May 10;4:14. doi: 10.1186/1743-0003-4-14.
8
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.普拉德-威利综合征临床诊断标准的目的变化及修订标准建议
Pediatrics. 2001 Nov;108(5):E92. doi: 10.1542/peds.108.5.e92.
9
Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry.普拉德-威利综合征斜视、斜视手术及其他视力状况的发生率:来自全球普拉德-威利综合征注册中心的数据。
BMC Ophthalmol. 2021 Aug 12;21(1):296. doi: 10.1186/s12886-021-02057-4.
10
Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome.在正常儿童中,血清胃饥饿素水平与体重指数、年龄和胰岛素浓度呈负相关,而在普拉德-威利综合征中则显著升高。
J Clin Endocrinol Metab. 2003 Jan;88(1):174-8. doi: 10.1210/jc.2002-021052.

引用本文的文献

1
An unusual case of adolescent type 2 diabetes mellitus: Prader-Willi syndrome.青少年2型糖尿病的一个罕见病例:普拉德-威利综合征。
J Family Med Prim Care. 2016 Jan-Mar;5(1):181-3. doi: 10.4103/2249-4863.184661.
2
Gall bladder agenesis in Prader Willi syndrome.普拉德-威利综合征中的胆囊发育不全
Indian J Endocrinol Metab. 2015 Mar-Apr;19(2):305. doi: 10.4103/2230-8210.149329.

本文引用的文献

1
Prader-willi syndrome: clinical aspects.普拉德-威利综合征:临床特征
J Obes. 2012;2012:473941. doi: 10.1155/2012/473941. Epub 2012 Oct 23.
2
A survey on Prader-Willi syndrome in the Italian population: prevalence of historical and clinical signs.意大利人群普拉德-威利综合征调查:历史及临床体征患病率
J Pediatr Endocrinol Metab. 2009 Oct;22(10):883-93. doi: 10.1515/jpem.2009.22.10.883.
3
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.普拉德-威利综合征临床诊断标准的目的变化及修订标准建议
Pediatrics. 2001 Nov;108(5):E92. doi: 10.1542/peds.108.5.e92.
4
Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.普拉德-威利综合征和安吉尔曼综合征:采用亚硫酸氢盐处理的甲基化特异性PCR方法进行诊断
Am J Med Genet. 1997 Dec 19;73(3):308-13.
5
Prader-Willi syndrome: consensus diagnostic criteria.普拉德-威利综合征:共识诊断标准。
Pediatrics. 1993 Feb;91(2):398-402.
6
A simple salting out procedure for extracting DNA from human nucleated cells.一种从人有核细胞中提取DNA的简单盐析方法。
Nucleic Acids Res. 1988 Feb 11;16(3):1215. doi: 10.1093/nar/16.3.1215.
7
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.由亲本性别决定的DNA甲基化印记区分了天使综合征和普拉德-威利综合征。
Genomics. 1992 Aug;13(4):917-24. doi: 10.1016/0888-7543(92)90001-9.

一名患有未控制糖尿病且食欲亢进的肥胖青年男性:普拉德-威利综合征。

An obese young man with uncontrolled diabetes and insatiable hunger: Prader-Willi syndrome.

作者信息

Nair Abilash, Kishore Shyam, Gupta Ranjan, Sharma A, Jyotsna V P

机构信息

Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.

Department of Genetics, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Indian J Endocrinol Metab. 2013 Dec;17(Suppl 3):S680-2. doi: 10.4103/2230-8210.123566.

DOI:10.4103/2230-8210.123566
PMID:24910837
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4046591/
Abstract

Prader-Willi syndrome (PWS) is a rare cause of obesity. With the rising incidence of obesity, clinicians need to be aware of genetic causes of obesity and when to suspect them. A case of PWS, which was diagnosed in adulthood, has been discussed. This case is special because of lack of history of floppiness in infancy and predominance behavioral problems.

摘要

普拉德-威利综合征(PWS)是导致肥胖的罕见原因。随着肥胖发病率的上升,临床医生需要了解肥胖的遗传原因以及何时怀疑存在此类原因。本文讨论了一例成年期确诊的普拉德-威利综合征病例。该病例较为特殊,因为患者在婴儿期没有肌张力低下病史,且主要表现为行为问题。