Abstract：
:A large number of families with familial isolated hyperparathyroidism (FIHP) have been reported. We wanted to determine if some of these families represent early manifestations of full-blown syndromes such as multiple endocrine neoplasia type 1 (MEN-1), as early identification may alter surgical and medical management. Four small families with a family history of hyperparathyroidism without clear-cut MEN-1 features were screened for a MEN1 mutation. The 10 exons of the MEN1 gene were amplified and analyzed by single-strand conformation analysis (SSCA). Abnormal SSCA shifts were then sequenced using an automated sequencer. Two germline mutations were found: R527X and P277H. The former was detected in three members of a family consisting of two children and a mother. At the time of testing the youngest son was normocalcemic and clinically normal but subsequently developed hyperparathyroidism (HPT). Since the initial testing, the family has been confirmed to be a MEN-1 family as the mother has developed abdominal pain and an elevated serum pancreatic polypeptide and the younger brother an anterior pituitary tumor and recurrent HPT. The latter P277H mutation was identified in two of three members tested from another family. Manifestations of MEN-1 syndrome have also developed. The father now has developed diarrhea and elevated serum gastrin; and the daughter has developed recurrent HPT. Genetic screening of families who clinically have FIHP is important and may influence the type of medical and surgical treatment and follow-up, as some have MEN-1 syndrome. Long-term screening for MEN syndromes should be included in this set of patients. Positive screening may predict disease and allow early detection and appropriate treatment before initiation of symptoms.
journal_name
World J Surgjournal_title
World journal of surgeryauthors
Perrier ND,Villablanca A,Larsson C,Wong M,Ituarte P,Teh BT,Clark OHdoi
10.1007/s00268-002-6617-9keywords:
subject
Has Abstractpub_date
2002-08-01 00:00:00pages
907-13issue
8eissn
0364-2313issn
1432-2323journal_volume
26pub_type
杂志文章abstract：:Congenital diaphragmatic hernia (CDH) is one of the most common causes of neonatal morbidity and mortality. The clinical spectrum of CDH ranges from minimally affected infants who do well with modern neonatal care to severely affected infants who die despite all interventions. Two decades of research have led to advan...
journal_title：World journal of surgery
pub_type： 杂志文章,评审
doi：10.1007/s00268-002-6739-0
更新日期：2003-01-01 00:00:00
abstract：BACKGROUND:Several studies have demonstrated that laparoscopic surgery is safe and effective for urgent and emergent colectomy in adulthood. The aim of the present study was to evaluate the feasibility of laparoscopic colectomy for children in emergent settings. METHODS:Between March 2008 and August 2011, 10 consecuti...
journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-012-1585-1
更新日期：2012-08-01 00:00:00
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journal_title：World journal of surgery
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更新日期：2012-12-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-009-0341-7
更新日期：2010-02-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
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journal_title：World journal of surgery
pub_type： 杂志文章
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更新日期：2014-08-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章,评审
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更新日期：2001-01-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章,评审
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更新日期：2015-12-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/pl00012338
更新日期：1999-05-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章,评审
doi：10.1007/BF00348195
更新日期：1994-01-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-009-0072-9
更新日期：2009-08-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-016-3469-2
更新日期：2016-07-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-020-05537-8
更新日期：2020-08-01 00:00:00
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journal_title：World journal of surgery
pub_type： 临床试验,杂志文章
doi：10.1007/s002689900427
更新日期：1998-06-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-018-04890-z
更新日期：2019-04-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-014-2775-9
更新日期：2015-04-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-009-9983-8
更新日期：2009-06-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s002680010180
更新日期：2000-09-01 00:00:00
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journal_title：World journal of surgery
pub_type： 历史文章,杂志文章
doi：10.1007/s002689900577
更新日期：1999-08-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-015-3066-9
更新日期：2015-08-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-009-9979-4
更新日期：2009-06-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-008-9843-y
更新日期：2009-02-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-007-9286-x
更新日期：2008-01-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章,评审
doi：10.1007/s00268-015-3246-7
更新日期：2016-01-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-007-9076-5
更新日期：2007-08-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-020-05571-6
更新日期：2020-09-01 00:00:00
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journal_title：World journal of surgery
pub_type： 杂志文章,评审
doi：10.1007/s002680010203
更新日期：2000-10-01 00:00:00
abstract：BACKGROUND:The aim of the study was to compare the changes in health-related quality of life (QOL) after lung surgery between young and old patients. METHODS:We performed a prospective, population-based, cohort study to investigate health-related QOL before and 6 months after lung surgery. We used the validated instru...
journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-010-0430-7
更新日期：2010-04-01 00:00:00
abstract：BACKGROUND:In the past decade, Enhanced Recovery after Surgery (ERAS) protocols have been implemented in several fields of surgery. With these protocols, a faster recovery and shorter hospital stay can be accomplished without an increase in morbidity or mortality. The purpose of this study was to review systematically ...
journal_title：World journal of surgery
pub_type： 杂志文章,meta分析,评审
doi：10.1007/s00268-013-2044-3
更新日期：2013-08-01 00:00:00
abstract：BACKGROUND:Thoracoscopic repair of esophageal atresia is considered to be one of the more advanced pediatric surgical procedures, and it undoubtedly has a learning curve. This is a single-center study that was designed to determine the learning curve of thoracoscopic repair of esophageal atresia. METHODS:The study inv...
journal_title：World journal of surgery
pub_type： 杂志文章
doi：10.1007/s00268-012-1651-8
更新日期：2012-09-01 00:00:00
