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Abstract:
CONTEXT:Neonatal severe hyperparathyroidism (NSHPT) is rare and potentially lethal. It is usually from homozygous or heterozygous germline-inactivating CASR variant(s). NSHPT shows a puzzling range of serum calcium and parathyroid hormone (PTH) levels. Optimal therapy is unclear. EVIDENCE ACQUISITION:We categorized genotype/phenotype pairings related to CASRs. For the 2 pairings in NSHPT, each of 57 cases of neonatal severe hyperparathyroidism required calcium, PTH, upper normal PTH, and dosage of a germline pathogenic CASR variant. EVIDENCE SYNTHESIS:Homozygous and heterozygous NSHPT are 2 among a spectrum of 9 genotype/phenotype pairings relating to CASRs and NSHPT. For the 2 NSHPT pairings, expressions differ in CASR allelic dosage, CASR variant severity, and sufficiency of maternofetal calcium fluxes. Homozygous dosage of CASR variants was generally more aggressive than heterozygous. Among heterozygotes, high-grade CASR variants in vitro were more pathogenic in vivo than low-grade variants. Fetal calcium insufficiency as from maternal hypoparathyroidism caused fetal secondary hyperparathyroidism, which persisted and was reversible in neonates. Among NSHPT pairings, calcium and PTH were higher in CASR homozygotes than in heterozygotes. Extreme hypercalcemia (above 4.5 mM; normal 2.2-2.6 mM) is a robust biomarker, occurring only in homozygotes (83% of that pairing). It could occur during the first week. CONCLUSIONS:In NSHPT pairings, the homozygotes for pathogenic CASR variants show higher calcium and PTH levels than heterozygotes. Calcium levels above 4.5 mM among NSHPT are frequent and unique only to most homozygotes. This cutoff supports early and robust diagnosis of CASR dosage. Thereby, it promotes definitive total parathyroidectomy in most homozygotes.
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最新影响因子:6.134 | 期刊ISSN:0021-972X | CiteScore:0.0 |
出版周期:Monthly | 是否OA:YES | 出版年份:1952 |
自引率:4.00% | 研究方向:医学-内分泌学与代谢 |
出版地区:UNITED STATES |
SCI期刊coverage:Science Citation Index Expanded(科学引文索引扩展)
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The Journal of Clinical Endocrinology & Metabolism is the world''s leading peer reviewed journal of clinical practice and applied clinical research. Each issue provides fast and in depth coverage of diabetes, reproductive endocrinology, growth hormone therapy, thyroid disease, and other critical areas of clinical endocrinology. Regular features highlight current topics in clinical medicine, such as clinical studies, clinical case seminars, management of endocrine disorders, practice management issues, original patent oriented research studies, and other significant new endocrine studies related to human physiology and disease. According to the latest ISI Journal Citation Report, JCE&M articles were cited almost 38,000 times in 2000. It has the highest Impact Factor ranking (#9) of any clinical journal in the ISI category of endocrinology and metabolism.
《临床内分泌与代谢杂志》是世界领先的临床实践和应用临床研究的同行评审期刊。每个问题提供快速和深入的报道糖尿病,生殖内分泌学,生长激素治疗,甲状腺疾病和其他关键领域的临床内分泌。定期专题突出当前临床医学的主题,如临床研究、临床病例研讨会、内分泌疾病管理、实践管理问题、原始专利导向的研究,以及其他与人类生理和疾病相关的重要内分泌新研究。根据ISI期刊最新的引文报告,2000年,JCE&M的文章被引用了近3.8万次。在内分泌和代谢的ISI分类中,它是所有临床杂志中影响因子排名最高的(第9)。
大类(学科) | 小类(学科) | 学科排名 |
医学 |
ENDOCRINOLOGY & METABOLISM (内分泌学与代谢) 2区 |
20/142 |
年度总发文量 | 年度论文发表量 | 年度综述发表量 |
491 | 476 | 15 |
引文计数(2018)
文献(2015-2017)
0次引用
99篇文献
序号 | 类别 | 排名 | 百分位 |
1 |
大类(学科):Medicine
小类(学科):Endocrinology, Diabetes and Metabolism
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#208/209
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研究方向:甲状腺癌 临床 治疗
审稿时间: 2个月内 接受率: 比较困难(25%命中)
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研究方向:糖尿病手术
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研究方向:内分泌
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审稿时间: 1个月内
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研究方向:diabetes thrombosis
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研究方向:糖尿病
接受率: 比较困难(25%命中)
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研究方向:甲状旁腺功能减退症 基因多态性 治疗
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研究方向:代谢
接受率: 比较困难(25%命中)
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影响因子:2.655
ISSN:1520-9512
研究方向:医学-呼吸系统
影响因子:3.427
ISSN:1027-3719
研究方向:医学-传染病学
影响因子:4.09
ISSN:8755-6863
研究方向:医学-呼吸系统
影响因子:5.526
ISSN:1526-0542
研究方向:医学-呼吸系统
影响因子:2.973
ISSN:1472-9792
研究方向:医学-呼吸系统
影响因子:3.289
ISSN:2055-1010
研究方向:PRIMARY HEALTH CARE-RESPIRATORY SYSTEM
影响因子:10.262
ISSN:0012-3692
研究方向:医学-呼吸系统
影响因子:2.339
ISSN:0020-1324
研究方向:医学-呼吸系统
影响因子:102.642
ISSN:2213-2600
研究方向:RESPIRATORY SYSTEM-RESPIRATORY SYSTEM
发表一篇学和医学成像类SCI论文
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