Abstract:
BACKGROUND:Multiple endocrine neoplasia 2A (MEN 2A) is a genetic syndrome manifesting as medullary thyroid carcinoma (MTC), hyperparathyroidism, and pheochromocytoma. Multiple endocrine neoplasia 2A results from mutations in the RET proto-oncogene. Hirschsprung disease (HSCR) is a rare manifestation of MEN 2A and has been described in known MEN 2A families. METHODS:Here we describe 2 MEN 2A families that were only identified after the diagnosis of HSCR. RESULTS:Kindred 1: A boy presented in infancy with HSCR. Genetic screening revealed a C609Y mutation, which is consistent with MEN 2A. Evaluation of his sister, father, and grandmother revealed the same mutation. All 3 had thyroidectomies demonstrating C-cell hyperplasia. The grandmother had a microscopic focus of MTC. Kindred 2: An infant boy and his sister were diagnosed with HSCR as neonates. Genetic testing demonstrated a C620R gene mutation consistent with MEN 2A. Total thyroidectomies revealed metastatic MTC in the father and C-cell hyperplasia in both children. CONCLUSIONS:Hirschsprung disease can be the initial presentation of MEN 2A. We strongly recommend that genetic screening be performed in patients presenting with HSCR, looking for the known RET mutations associated with MEN 2A. If a mutation consistent with MEN 2A is detected, genetic screening of all first-degree relatives in the kindred is recommended.
journal_name
J Pediatr Surgjournal_title
Journal of pediatric surgeryauthors
Fialkowski EA,DeBenedetti MK,Moley JF,Bachrach Bdoi
10.1016/j.jpedsurg.2007.09.043subject
Has Abstractpub_date
2008-01-01 00:00:00pages
188-90issue
1eissn
0022-3468issn
1531-5037pii
S0022-3468(07)00714-2journal_volume
43pub_type
杂志文章abstract:BACKGROUND/PURPOSE:Newborns with congenital diaphragmatic hernia (CDH) still have a high mortality rate, which has been attributed to pulmonary hypoplasia and pulmonary hypertension. Fibroblast growth factors (FGFs) are essential components of the gene network that regulates lung development. Recent studies suggest tha...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(03)00183-0
更新日期:2003-07-01 00:00:00
abstract::Undifferentiated embryonic liver sarcoma (UELS) is a rare highly malignant neoplasm that predominantly occurs in children between 5 and 10 years of age. The typical radiologic appearance on ultrasound and computed tomography of UELS shows a large septated mass having combined cystic and solid components. These radiogr...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2011.07.006
更新日期:2011-11-01 00:00:00
abstract::Congenital lumbar hernia is rare in infancy and childhood, and its association with the lumbocostovertebral syndrome is even more unusual. Only 20 cases have been reported in the English literature. We present the case of a child with multiple costovertebral anomalies, undescended testis, and lateral abdominal wall he...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2007.08.065
更新日期:2008-01-01 00:00:00
abstract:PURPOSE:Venoarterial extracorporeal membrane oxygenation (ECMO) (VA) is used more commonly in neonates with congenital diaphragmatic hernia (CDH) than venovenous ECMO (VV). We hypothesized that VV may result in comparable outcomes in infants with CDH requiring ECMO. METHODS:We retrospectively analyzed the Extracorpore...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2009.01.017
更新日期:2009-09-01 00:00:00
abstract:BACKGROUND/PURPOSE:Accessory hemi diaphragm (AHD) is an uncommon condition. Its clinical features, diagnosis and management have not been clearly defined. METHODS:We reviewed the world literature and added a case of our own. RESULTS:There are 40 proven cases in the literature. The lesion occurs almost exclusively in ...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章,评审
doi:10.1016/j.jpedsurg.2014.03.005
更新日期:2014-08-01 00:00:00
abstract:PURPOSE:The aim of this study was (1) To determine the value of fine-needle aspiration cytology (FNAC) in children with persistent or suspicious peripheral lymphadenopathy and (2) to analyze whether a history of previous malignancy influenced the accuracy of FNAC. METHODS:A retrospective study in an Academic Children'...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1053/jpsu.2001.19991
更新日期:2001-01-01 00:00:00
abstract:BACKGROUND/PURPOSE:The aim of this study was to compare the size of the right internal jugular vein between neonates with congenital diaphragmatic hernia (CDH) who need extracorporeal membrane oxygenation (ECMO) and non-CDH neonates. The purpose also was to describe a method for cannulation of the right brachiocephalic...
journal_title:Journal of pediatric surgery
pub_type: 临床试验,杂志文章
doi:10.1053/jpsu.2002.32908
更新日期:2002-06-01 00:00:00
abstract:PURPOSE:Perineal groove is a rare congenital anomaly of the perineum, and only a few papers describing a small number of cases have been reported in the medical literature. This study aimed to evaluate the clinical characteristics and proper management of perineal groove. METHODS:We performed a retrospective review of...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2019.07.017
更新日期:2020-08-01 00:00:00
abstract::We present a case report of a boy with biliary atresia who, after hepatoportoenterostomy performed on day 21 of life, had immediate resolution of cholestasis and remained anicteric until 3.5 months of age. He then abruptly developed acholic stools. Nuclear medicine imaging study showed no excretion. Broad-spectrum ant...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2006.03.012
更新日期:2006-07-01 00:00:00
abstract:BACKGROUND:Extrahepatic portal vein thrombosis (EHPVT) is an important cause of portal hypertension in children. Rex shunt has been used successfully to treat these patients. METHODS:We report our experience in 19 infants and children (5 months to 14 years) with HPVT eligible for a mesenteric-portal surgical shunt wit...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2010.09.091
更新日期:2011-01-01 00:00:00
abstract::Cholelithiasis is increasingly being diagnosed in newborns and infants because of the more frequent use of abdominal ultrasound. However, common bile duct stones causing obstruction or symptoms in infancy are exceedingly rare and are not often reported in the literature. We report the successful treatment of symptomat...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2007.03.056
更新日期:2007-06-01 00:00:00
abstract:BACKGROUND:The purpose of this study was to identify patient and treatment characteristics associated with early (in hospital) hernia recurrence after congenital diaphragmatic hernia (CDH) repair. METHODS:Data from the Congenital Diaphragmatic Hernia Study Group registry were queried from 2007 to 2015. Recurrence of t...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2017.03.011
更新日期:2017-06-01 00:00:00
abstract::Acetylcholinesterase activity was measured in the serum and erythrocytes from 22 children. The 12 patients in whom the diagnosis of Hirschsprung's disease was confirmed, had a significantly higher concentration of enzyme in both serum and erythrocytes than the 10 children in whom the diagnosis was excluded. This syste...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(78)80465-5
更新日期:1978-08-01 00:00:00
abstract::In this case of bronchopulmonary foregut malformation (BPFM), the bronchus of the anomalous pulmonary tissue was reconstructed and tracheoplasty for associated congenital tracheal stenosis was performed at 5 days of age. After reconstruction the right lung was ventilated, which was followed by improved blood gas data....
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/0022-3468(95)90418-2
更新日期:1995-10-01 00:00:00
abstract:PURPOSE:Urologic complications are an underappreciated sequelae of the mass effect of sacrococcygeal teratoma (SCT) and its resection. The goal of this study was to evaluate the incidence and severity of urologic complications in patients with SCT. METHODS:A retrospective review of patients with a prenatal diagnosis o...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2011.03.045
更新日期:2011-06-01 00:00:00
abstract:BACKGROUND:Pediatric surgery (PS) is among the most competitive fellowship opportunities for general surgery residents. Prior investigations into factors associated with successful matriculation to PS have relied on surveys, which have inherent biases. STUDY DESIGN:Data were extracted from the Electronic Residency App...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2019.10.057
更新日期:2020-10-01 00:00:00
abstract::A three and one-half-year-old girl and a 12-year-old boy presented with features of the two clinical presentations of Castleman's disease or giant lymph node hyperplasia. The girl presented with anemia, fever, night sweats, hypergammaglobulinemia, and a palpable abdominal mass. Her symptoms were consistent with those ...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(86)80385-2
更新日期:1986-08-01 00:00:00
abstract::A retrospective review of the treatment of Wilms' tumor from 1967 to 1977 at the Royal Children's Hospital, Melbourne, was undertaken, allowing a minimum 2-yr followup. Fifty-four (77%) of the 70 patients in the study are alive, with 23/25 (92%) in Stage I, 12/16 (75%) in Stage II, 12/19 (63%) in Stage III, and 7/9 (7...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(83)80091-8
更新日期:1983-06-01 00:00:00
abstract:PURPOSE:Information regarding initial employment of graduating pediatric surgery fellows is limited. More complete data could yield benchmarks of initial career environment. METHODS:An anonymous survey was distributed in 2011 to 41 pediatric surgery graduates from all ACGME training programs interrogating details of i...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2012.10.024
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND/PURPOSE:The authors have investigated hepatocyte transplantation using biodegradable polymer scaffolds as a possible treatment of end-stage liver disease. The purpose of this study was to investigate the survival rate and function of hepatocytes alone or cocultured with other cell types on 3-dimensional biod...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1053/jpsu.2000.9298
更新日期:2000-09-01 00:00:00
abstract:BACKGROUND:The ideal colostomy type for patients with anorectal malformations (ARM) is undetermined. We performed a systematic review and meta-analysis of short-term complications comparing loop and divided colostomies. METHODS:After review registration (PROSPERO: CRD42016036481), multiple databases were searched for ...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.jpedsurg.2017.01.044
更新日期:2017-05-01 00:00:00
abstract:BACKGROUND:Cryptorchidism is associated with increased level of reactive oxygen species and lipid peroxidation. This study was undertaken to examine the possible ghrelin ability in attenuation of testicular damage in response to elevated temperature. METHODS:Thirty male rats were subdivided into sham-operated, cryptor...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2013.10.003
更新日期:2014-04-01 00:00:00
abstract:BACKGROUND/PURPOSE:Medial layer hypertrophy of hepatic arterial branches may be associated with biliary atresia (BA) pathogenesis. This study aimed at evaluating medial layer thickness in hepatic arterial branches at portoenterostomy and liver transplantation. METHODS:The authors evaluated 1274 arterial branches both ...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2004.12.002
更新日期:2005-04-01 00:00:00
abstract:PURPOSE:Three-dimensional visualization of solid tumors is possible because of high-resolution computed tomography and magnetic resonance imaging scans. However, additional preoperative information is often desirable in complex malignancies. For the first time, the authors present a model of preoperative 3-dimensional ...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2004.10.026
更新日期:2005-02-01 00:00:00
abstract::A 10-year-old boy presented with features of Cushing's syndrome. Investigations, including ultrasound scan and computed tomography scans, demonstrated a right adrenal tumor. The tumor was excised and histologically found to be an encapsulated adrenal adenoma. Surgical excision is the treatment of choice for adrenal tu...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章,评审
doi:10.1016/s0022-3468(98)90335-9
更新日期:1998-04-01 00:00:00
abstract::Two children with congenital microgastria and associated anomalies requiring surgery as infants, developed severe dumping syndrome which necessitated a remedial operation. A Roux-en-Y jejunal pouch (Hunt-Lawrence) was formed at 22 months and 10 months respectively. Weight gain was immediate in both patients and has be...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(83)80017-7
更新日期:1983-12-01 00:00:00
abstract:BACKGROUND/PURPOSE:The risks of homologous transfusion and the effectiveness of predeposit autologous transfusion have been described. The authors examined the clinical usefulness of cord-blood harvesting for autologous transfusion in newborns who had congenital anomalies antenatally diagnosed that would require surgic...
journal_title:Journal of pediatric surgery
pub_type: 临床试验,杂志文章
doi:10.1053/jpsu.2001.23952
更新日期:2001-06-01 00:00:00
abstract::Children requiring surgical intervention for pancreatic disease may be at risk long term for exocrine insufficiency and glucose intolerance. Pediatric surgeons must balance the need to perform adequate surgical resection while preserving as much normal pancreatic parenchyma as possible. Neoplasms of the middle pancrea...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2006.12.023
更新日期:2007-04-01 00:00:00
abstract:PURPOSE:The purpose of this paper is to review the effect of intralesional corticosteroid therapy in the treatment of 155 head and neck hemangiomas. METHODS:In the past 10 years, we have treated 155 proliferating head and neck hemangiomas with intralesional corticosteroid injections. Three to 6 injections of triamcino...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(00)90205-7
更新日期:2000-03-01 00:00:00
abstract::Paediatric surgeons in Australia and New Zealand have had a close relationship with the British Association of Paediatric Surgeons (BAPS). In the first 15 years after the foundation of BAPS, 17 Australian and one New Zealand paediatric surgeons became members of BAPS, of whom, 11 are still alive. Currently, 32 Austral...
journal_title:Journal of pediatric surgery
pub_type: 历史文章,杂志文章
doi:10.1016/s0022-3468(03)00073-3
更新日期:2003-07-01 00:00:00