Abstract：
:We report on a 27-year-old male patient presenting with renal colic secondary to hyperparathyroidism. Further investigations confirmed a diagnosis of type 1 multiple endocrine neoplasia and revealed a 2.0 cm pancreatic neuroendocrine tumour as well as a pituitary macroadenoma with significantly elevated prolactin levels. The patient underwent three-gland parathyroidectomy, a left pancreatectomy, and received dopamine agonist treatment. Genetic testing revealed a novel germline heterozygote missense mutation in the MEN1 gene (p.Gly42Val) which affects the Smad3 binding domain of the MENIN protein. The same mutation was found in the patient's mother, who on further testing was found to have hyperparathyroidism, a pituitary microadenoma and bilateral adrenal hyperplasia without pituitary or adrenal hormone excess. This case report raises the importance of genetic testing for MEN1 syndrome in a patient even when family history appears to be negative. Following genetic counselling, genetic cascade screening should be considered in family members to identify further gene carriers.
journal_name
Ann Clin Lab Scijournal_title
Annals of clinical and laboratory scienceauthors
Koehler VF,Jungheim K,Groß U,Iacovazzo D,Mann A,Korbonits Msubject
Has Abstractpub_date
2017-09-01 00:00:00pages
606-610issue
5eissn
0091-7370issn
1550-8080pii
47/5/606journal_volume
47pub_type
杂志文章abstract：:Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to measure 6 metabolic compounds of the adrenocorticosteroid pathway simultaneously on residual specimens from patients who had previously been previously diagnosed, on the basis of immunoassays, as having congenital adrenal hyperplasia (CAH), 11 beta-...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2001-04-01 00:00:00
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journal_title：Annals of clinical and laboratory science
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更新日期：1979-11-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1979-09-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2000-10-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2014-10-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2004-04-01 00:00:00
abstract：:The purpose of this study was to evaluate immunoassay methods for the measurement of serum cardiac creatine kinase isoenzyme (CK-MB) with respect to sensitivity and specificity. The CK-MB electrophoretic assay (Helena Laboratories) was used as the reference. Two principles of immunoassay were included in the evaluatio...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1994-03-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
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更新日期：2015-01-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1999-10-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2008-07-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1980-03-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1979-05-01 00:00:00
abstract：:The role of the mammalian mesonephric kidney is not completely understood. It has been established that outpouchings of the mesonephric excretory ducts give origin to parts of the urogenital system of the adult. It is also known that mammalian mesonephric urine is formed as an ultrafiltrate. The mesonephric renal tubu...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1991-05-01 00:00:00
abstract：:This study evaluated the performance of a handheld coagulation analyzer for measurements of capillary blood specimens of 93 outpatient cardiology patients with atrial fibrillation who were receiving oral anti-coagulant therapy. The international normalized ratio (INR) results of the CoaguChek XS system (Roche Diagnost...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2008-01-01 00:00:00
abstract：OBJECTIVE:RASGRF1 is a guanine nucleotide exchange factor, which promotes the release of GDP from inactive Ras and stabilizes the apoprotein. In this study, the methylation status of RASGRF1 promoter and its correlation with clinicopathological parameters were evaluated in colorectal cancer (CRC). METHODS:Methylation-...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2018-01-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1977-03-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1986-09-01 00:00:00
abstract：:In the course of a clinical comparison involving 204 parallel total creatine kinase (CK), creatine kinase-MB isoenzyme (CK-MB), and cardiac troponin I (cTnI) measurements, 12 patients were identified in whom cTnI was elevated while total CK was normal, as well as 2 patients in whom CK-MB was elevated while cTnI was no...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2000-04-01 00:00:00
abstract：:The term "vitamin D" refers to two chemical compounds - ergosterol, or vitamin D2, and cholecalciferol, or vitamin D3. Active vitamin D3 is correctly regarded as a neurohormone due to its pleiotropic biological activities. Although the relation between vitamin D and calcium-phosphorus metabolism has never been discuss...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2017-08-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1977-01-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2011-10-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：2016-01-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1982-05-01 00:00:00
abstract：:Qualitative urinary screening procedures were converted to quantitative methods for urinary cystine and homocystine based on the reactions between these amino acids and cyanide-nitroprusside reagents. Cystine and homocystine are quantified by the measurement of absorbances at 521 and 524 nm, respectively. Cyanide-nitr...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1992-01-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 临床试验,杂志文章
doi：
更新日期：2001-07-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2006-07-01 00:00:00
abstract：CONTEXT:Hepatitis C virus (HCV) infects up to 1.8% of the US general population, although the rate is significantly higher in military veterans at 5.4-20%. Early detection and accurate diagnosis are critical as chronic HCV infection can lead to liver cirrhosis and hepatocellular carcinoma. Genotype analysis has both th...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2012-10-01 00:00:00
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：2013-01-01 00:00:00
