Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism.

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 Surg

journal_title

World journal of surgery

authors

Perrier ND,Villablanca A,Larsson C,Wong M,Ituarte P,Teh BT,Clark OH

doi

10.1007/s00268-002-6617-9

keywords:

subject

Has Abstract

pub_date

2002-08-01 00:00:00

pages

907-13

issue

8

eissn

0364-2313

issn

1432-2323

journal_volume

26

pub_type

杂志文章
  • The evolving role of laparoscopy in colonic diverticular disease: a systematic review.

    abstract:BACKGROUND:A PubMed search of the biomedical literature was carried out to systematically review the role of laparoscopy in colonic diverticular disease. All original reports comparing elective laparoscopic, hand-assisted, and open colon resection for diverticular disease of the colon, as well as original reports evalu...

    journal_title:World journal of surgery

    pub_type: 杂志文章,评审

    doi:10.1007/s00268-012-1872-x

    authors: Gaertner WB,Kwaan MR,Madoff RD,Willis D,Belzer GE,Rothenberger DA,Melton GB

    更新日期:2013-03-01 00:00:00

  • Total colectomy improves altered distribution of regulatory T cells in patients with ulcerative colitis.

    abstract:BACKGROUND:It is now generally believed that regulatory T cells (Tregs) play an important role in peripheral tolerance, and a defect in Tregs is considered one of the most important factors in the induction of various kinds of autoimmune disease including ulcerative colitis (UC). Here, we examined the change in frequen...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-005-0301-9

    authors: Furihata M,Sawada T,Okada T,Ishizuka M,Horie T,Takagi K,Nagata H,Kubota K

    更新日期:2006-04-01 00:00:00

  • Management of recurrent inguinal hernia at a tertiary care hospital of southern Sindh, Pakistan.

    abstract:BACKGROUND:The goal of the present study was to determine the frequency, mode of presentation, and need for reoperation in the treatment of recurrent inguinal hernia at Liaquat University Hospital, Jamshoro, Sindh, Pakistan. METHODS:This descriptive, cross-sectional study was conducted over a period of four years, fro...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-012-1897-1

    authors: Memon AA,Siddiqui FG,Abro AH,Agha AH,Lubna S,Memon AS

    更新日期:2013-03-01 00:00:00

  • Intraoperative local insufflation of warmed humidified CO₂ increases open wound and core temperatures: a randomized clinical trial.

    abstract:BACKGROUND:The open surgical wound is exposed to cold dry ambient air, resulting in substantial heat loss through radiation, evaporation, and convection. At the same time, anesthesia decreases the patient's core temperature. Despite preventive measures, mild intraoperative hypothermia has been associated with postopera...

    journal_title:World journal of surgery

    pub_type: 杂志文章,随机对照试验

    doi:10.1007/s00268-012-1735-5

    authors: Frey JM,Janson M,Svanfeldt M,Svenarud PK,van der Linden JA

    更新日期:2012-11-01 00:00:00

  • Functional Advantages of Proximal Gastrectomy with Jejunal Interposition Over Total Gastrectomy with Roux-en-Y Esophagojejunostomy for Early Gastric Cancer.

    abstract:BACKGROUND:The postoperative functional advantages of a proximal gastrectomy over a total gastrectomy remain debatable. The aim of this study was to evaluate the functional outcomes of a proximal gastrectomy with jejunal interposition (PG-JI), compared with those for a total gastrectomy with Roux-en-Y esophagojejunosto...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-015-3180-8

    authors: Ohashi M,Morita S,Fukagawa T,Oda I,Kushima R,Katai H

    更新日期:2015-11-01 00:00:00

  • Emergency Abdominal Operations in the Elderly: A Multivariate Regression Analysis of 430 Consecutive Patients with Acute Abdomen.

    abstract:BACKGROUND:This study is intended to ascertain if outcome of acute abdominal surgery among elderly patients with acute abdominal pain have improved. METHODS:Altogether 456 patients aged >65 years underwent emergency abdominal surgery between the years 2007 and 2009 in our hospital. After excluding emergency reoperatio...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-015-3207-1

    authors: Ukkonen M,Kivivuori A,Rantanen T,Paajanen H

    更新日期:2015-12-01 00:00:00

  • Mirizzi syndrome: ten years experience from a teaching hospital in Riyadh.

    abstract:OBJECTIVE:Mirizzi syndrome (MS) is an uncommon presentation of cholelithiasis. This study aims to find the incidence and analyze the outcome of management of this condition at Riyadh Medical Complex (RMC) with particular reference to diagnostic methods and outcome of surgical treatment. METHODS:Retrospective study on ...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-005-0100-3

    authors: Al-Akeely MH,Alam MK,Bismar HA,Khalid K,Al-Teimi I,Al-Dossary NF

    更新日期:2005-12-01 00:00:00

  • Endovascular repair of abdominal aortic aneurysms using the EGS tube and bifurcated graft systems.

    abstract::Left untreated, aneurysmal disease of the abdominal aorta is a highly lethal condition. Standard transabdominal repair of aortic aneurysm, although successful and durable, continues to be plagued by significant morbidity, mortality, and cost. Placement of an endovascular graft through a femoral arteriotomy is a new te...

    journal_title:World journal of surgery

    pub_type: 杂志文章,评审

    doi:10.1007/s002689900101

    authors: Colburn MD,Moore WS

    更新日期:1996-07-01 00:00:00

  • Impact of Remnant Carcinoma in Situ at the Ductal Stump on Long-Term Outcomes in Patients with Distal Cholangiocarcinoma.

    abstract:BACKGROUND:The management of positive ductal margins with carcinoma in situ (R1-CIS) after resection is controversial. The aim of this study was to evaluate the impact of R1-CIS on survival in patients who underwent resection for distal cholangiocarcinoma. METHODS:We enrolled 121 consecutive patients with distal chola...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-020-05799-2

    authors: Yasukawa K,Shimizu A,Motoyama H,Kubota K,Notake T,Fukushima K,Ikehara T,Hayashi H,Kobayashi A,Soejima Y

    更新日期:2021-01-01 00:00:00

  • Clinical and genetic analysis of noncancerous and cancerous biliary epithelium in patients with pancreaticobiliary maljunction.

    abstract::We analyzed clinical features and genetic alterations in the noncancerous and cancerous biliary lesions obtained from pancreaticobiliary maljunction (PBM) patients. Gallbladder (GB) and bile duct (BD) lesions were obtained surgically from 36 patients with PBM, and polymerase chain reaction (PCR) methods were used to e...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-001-0187-0

    authors: Nagai M,Watanabe M,Iwase T,Yamao K,Isaji S

    更新日期:2002-01-01 00:00:00

  • The surgical strategy and the molecular analysis of patients with parathyroid cancer.

    abstract:BACKGROUND:Parathyroid cancer is a rare endocrine tumor, and the prognostic factors for this cancer remain unclear. The standard therapy is en bloc resection of the primary tumor at the time of the initial operation. However, the clinical significance of prophylactic neck dissection (PND) in the management of parathyro...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-010-0618-x

    authors: Enomoto K,Uchino S,Ito A,Watanabe S,Shibuya H,Enomoto Y,Noguchi S

    更新日期:2010-11-01 00:00:00

  • The Correlation Between Poverty and Access to Essential Surgical Care in Ghana: A Geospatial Analysis.

    abstract:BACKGROUND:Surgical disease burden falls disproportionately on individuals in low- and middle-income countries. These populations are also the least likely to have access to surgical care. Understanding the barriers to access in these populations is therefore necessary to meet the global surgical need. METHODS:Using g...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-016-3765-x

    authors: Tansley G,Stewart BT,Gyedu A,Boakye G,Lewis D,Hoogerboord M,Mock C

    更新日期:2017-03-01 00:00:00

  • Current understanding and potential immunotherapy for HIV-associated squamous cell carcinoma of the anus (SCCA).

    abstract::Squamous cell carcinoma of the anus (SCCA) is a rare disease in the average population but is an increasing concern among immunocompromised individuals, such as the HIV-seropositive. Coinfection with human papillomavirus (HPV) in this population is common. HPV infection is difficult to clear with a compromised immune ...

    journal_title:World journal of surgery

    pub_type: 杂志文章,评审

    doi:10.1007/s00268-008-9835-y

    authors: Marin-Muller C,Li M,Chen C,Yao Q

    更新日期:2009-04-01 00:00:00

  • Laparoscopic versus open surgery for colorectal cancer.

    abstract::There are three basic roles of laparoscopic surgery for patients with colorectal cancer. First, although infrequently needed prior to therapy, diagnostic or staging laparoscopy may be valuable in certain colorectal cancer patients. Second, the laparoscopic approach may offer several attractive features for the palliat...

    journal_title:World journal of surgery

    pub_type: 杂志文章,评审

    doi:10.1007/s002689900294

    authors: Milsom JW,Kim SH

    更新日期:1997-09-01 00:00:00

  • Correction to: Differences in Characteristics and Outcome of Patients with Penetrating Injuries in the USA and the Netherlands: A Multi-institutional Comparison.

    abstract::In the original article Dennis Den Hartog's name was tagged incorrectly. It is correct as reflected here. ...

    journal_title:World journal of surgery

    pub_type: 杂志文章,已发布勘误

    doi:10.1007/s00268-019-04957-5

    authors: Dijkink S,Krijnen P,Hage A,Van der Wilden GM,Kasotakis G,Den Hartog D,Salim A,Goslings JC,Bloemers FW,Rhemrev SJ,King DR,Velmahos GC,Schipper IB

    更新日期:2019-05-01 00:00:00

  • Personalized cancer approach: using RNA interference technology.

    abstract::Normal cellular survival is dependent on the cooperative expression of genes' signaling through a broad array of DNA patterns. Cancer, however, has an Achilles' heel. Its altered cellular survival is dependent on a limited subset of signals through mutated DNA, possibly as few as three. Identification and control of t...

    journal_title:World journal of surgery

    pub_type: 杂志文章,评审

    doi:10.1007/s00268-011-1100-0

    authors: Nemunaitis J,Rao DD,Liu SH,Brunicardi FC

    更新日期:2011-08-01 00:00:00

  • Preoperative Albumin-Bilirubin Grade Predicts Recurrences After Radical Gastrectomy in Patients with pT2-4 Gastric Cancer.

    abstract:BACKGROUND:The albumin-bilirubin (ALBI) score was initially developed for assessing liver dysfunction severity and was suggested to have prognostic value in patients with hepatocellular carcinoma. We aimed to evaluate the prognostic impact of ALBI grade in patients with advanced gastric cancer (GC) after radical gastre...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-017-4234-x

    authors: Kanda M,Tanaka C,Kobayashi D,Uda H,Inaoka K,Tanaka Y,Hayashi M,Iwata N,Yamada S,Fujii T,Sugimoto H,Murotani K,Fujiwara M,Kodera Y

    更新日期:2018-03-01 00:00:00

  • Insight in Information Provision Prior to Obtaining Surgical Informed Consent-by Audiotaping Outpatient Consultations.

    abstract:BACKGROUND:Literature suggests that patient-informing process prior to obtaining surgical informed consent (SIC) does not function well. This study aimed to provide insight into the current practice of SIC in the Netherlands. METHODS:This is a prospective, observational, and multicenter study, conducted in one academi...

    journal_title:World journal of surgery

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s00268-018-4804-6

    authors: Burger BB,Veerman MM,Tellier MA,Leclercq WKG,Mouës-Vink CM,Werker PMN

    更新日期:2019-02-01 00:00:00

  • Impact of general versus local anesthesia on early postoperative cognitive dysfunction following carotid endarterectomy: GALA Study Subgroup Analysis.

    abstract:BACKGROUND:The aim of this study was to compare the influence of either general (GA) or local (LA) anesthesia on the postoperative neurocognitive outcome in patients undergoing carotid endarterectomy (CEA) in a randomized study. Therefore, we performed a subgroup analysis of the multicenter GALA study. METHODS:A total...

    journal_title:World journal of surgery

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1007/s00268-009-0047-x

    authors: Weber CF,Friedl H,Hueppe M,Hintereder G,Schmitz-Rixen T,Zwissler B,Meininger D

    更新日期:2009-07-01 00:00:00

  • Robotic Reoperative Anti-reflux Surgery: Low Perioperative Morbidity and High Symptom Resolution.

    abstract:BACKGROUND:Laparoscopic reoperative anti-reflux surgery (ARS) has a significantly higher morbidity than laparoscopic primary ARS; however, it is not known whether the same pattern exists within the robotic approach. We aimed to evaluate the safety and efficacy of robotic reoperative ARS in comparison with primary robot...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-018-4708-5

    authors: Elmously A,Gray KD,Ullmann TM,Fahey TJ 3rd,Afaneh C,Zarnegar R

    更新日期:2018-12-01 00:00:00

  • Ablation for recurrent hepatocellular carcinoma: a systematic review of clinical efficacy and prognostic factors.

    abstract:BACKGROUND:Hepatocellular carcinoma (HCC) typically recurs following primary treatment. The primary objective of this systematic review was to evaluate the safety and efficacy of ablative therapies for recurrent HCC. The secondary objective was to identify any factors associated with prognosis following ablation for re...

    journal_title:World journal of surgery

    pub_type: 杂志文章,评审

    doi:10.1007/s00268-015-2956-1

    authors: Thomasset SC,Dennison AR,Garcea G

    更新日期:2015-05-01 00:00:00

  • Long-Term Survival is not Impaired After the Complete Resection of Neuroendocrine Tumors of the Appendix.

    abstract:BACKGROUND:Appendiceal neuroendocrine tumors (aNET) are a common entity in routine medical care, with a rate per appendectomy as high as 0.3-0.9 %. Considering the relatively young age at diagnosis for these patients, exact information about the long-term prognosis of aNET is required. Survival rates vary substantially...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-015-3164-8

    authors: Steffen T,Ebinger SM,Warschkow R,Lüthi C,Schmied BM,Clerici T

    更新日期:2015-11-01 00:00:00

  • Assessment of quality of life after gastrectomy using EORTC QLQ-C30 and STO22.

    abstract:BACKGROUND:The European Organization for Research and Treatment of Cancer (EORTC) Quality of Life Questionnaire-Cancer (QLQ-C30) and the site-specific module for gastric cancer (QLQ-STO22) have seldom been used to measure the postoperative health-related quality of life (HRQOL) in Japanese gastric cancer patients. The ...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-010-0860-2

    authors: Kobayashi D,Kodera Y,Fujiwara M,Koike M,Nakayama G,Nakao A

    更新日期:2011-02-01 00:00:00

  • Nerve-identifying inguinal hernia repair: a surgical anatomical study.

    abstract:BACKGROUND:Pain syndromes of somatic and neuropathic origin are considered to be the main causes of chronic pain after open inguinal hernia repair. Nerve-identification during open hernia repair is suggested to be associated with less postoperative chronic pain. The aim of this study was to define clinically relevant s...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-006-0376-y

    authors: Wijsmuller AR,Lange JF,Kleinrensink GJ,van Geldere D,Simons MP,Huygen FJ,Jeekel J,Lange JF

    更新日期:2007-02-01 00:00:00

  • Safety of liver resections in obese and overweight patients.

    abstract:BACKGROUND:The new global epidemic, overweight and obesity, has a significant role in the etiology of liver tumors. However, the impact of body weight on the outcome after liver resection is unknown. METHODS:We carried out a prospective study of 684 patients who underwent liver resections. Patients were stratified acc...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-010-0756-1

    authors: Balzan S,Nagarajan G,Farges O,Galleano CZ,Dokmak S,Paugam C,Belghiti J

    更新日期:2010-12-01 00:00:00

  • Fetal tracheal occlusion for the treatment of congenital diaphragmatic hernia.

    abstract:BACKGROUND:Congenital diaphragmatic hernia (CDH) continues to be associated with significant mortality and morbidity rates despite advances in neonatal care. Fetal intervention for CDH has been studied for 25 years. After initial difficulties encountered with open fetal repair, attention has turned to tracheal occlusio...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-007-9074-7

    authors: Laberge JM,Flageole H

    更新日期:2007-08-01 00:00:00

  • The Impact of Surgical Team Familiarity on Length of Procedure and Length of Stay: Inconsistent Relationships Across Procedures, Team Members, and Sites.

    abstract:BACKGROUND:Team familiarity has been shown to be important for operative efficiency and number of complications, but it is unclear for which types of operations and for which team members familiarity matters the most. The objective of this study is to further our understanding of familiarity in the OR by quantifying th...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-020-05657-1

    authors: Parker SH,Lei X,Fitzgibbons S,Metzger T,Safford S,Kaplan S

    更新日期:2020-11-01 00:00:00

  • Progress in the treatment of acute gastroduodenal mucosal lesions (AGML).

    abstract::This article presents an analysis of acute gastroduodenal mucosal lesions (AGML) based on a review of current literature and the personal experience of the authors. The pathology of AGML involes two distinct types of lesions, namely, superficial erosions confined to the acid-secreting gastric mucosa and presenting as ...

    journal_title:World journal of surgery

    pub_type: 杂志文章,评审

    doi:10.1007/BF01654729

    authors: Speranza V,Basso N

    更新日期:1977-01-01 00:00:00

  • Meta-analysis of efficacy and safety of fast-track surgery in gastrectomy for gastric cancer.

    abstract:BACKGROUND:Fast-track surgery (FTS) is a promising program for surgical patients and has been applied to several surgical diseases. FTS is much superior to conventional perioperative care. Our aim was to evaluate and compare the safety and efficacy of FTS and conventional perioperative care for patients undergoing gast...

    journal_title:World journal of surgery

    pub_type: 杂志文章,meta分析,评审

    doi:10.1007/s00268-014-2690-0

    authors: Li YJ,Huo TT,Xing J,An JZ,Han ZY,Liu XN,Zhao QC

    更新日期:2014-12-01 00:00:00

  • Liver volumetry plug and play: do it yourself with ImageJ.

    abstract:BACKGROUND:A small remnant liver volume is an important risk factor for posthepatectomy liver failure and can be predicted accurately by computed tomography (CT) volumetry using radiologic image analysis software. Unfortunately, this software is expensive and usually requires support by a radiologist. ImageJ is a freel...

    journal_title:World journal of surgery

    pub_type: 杂志文章

    doi:10.1007/s00268-007-9197-x

    authors: Dello SA,van Dam RM,Slangen JJ,van de Poll MC,Bemelmans MH,Greve JW,Beets-Tan RG,Wigmore SJ,Dejong CH

    更新日期:2007-11-01 00:00:00