Abstract:
BACKGROUND:Currarino syndrome (CS) is a triad consisting of partial sacral agenesis, presacral mass, and anorectal malformations, typically anal stenosis but the phenotype varies. The main cause of this monogenic disorder is mutations in the motor neuron and pancreas homeobox 1 gene. We describe the clinical and genetic findings in 4 unrelated Swedish cases with CS and their relatives. METHODS:We performed mutation analysis of the motor neuron and pancreas homeobox 1 gene in 4 cases with CS by DNA sequence analysis as well as multiplex ligation-dependent probe amplification. In addition, array comparative genome hybridization was performed in 2 cases. Including relatives, totally, 14 individuals were analyzed. RESULTS:We found 2 previously described mutations, 1 de novo nonsense mutation (p.Gln212X) and 1 maternally inherited frameshift mutation (p.Pro18ProfsX38). In the family with the frameshift mutation, we also detected the same maternally inherited mutation in 3 of the proband's 4 brothers, who displayed varying symptoms. All mutation carriers had presacral tumors, although 2 were asymptomatic. CONCLUSION:Our findings emphasize the need for genetic counseling and mutation analysis in patients with CS to detect tumors early. It shows the importance of evaluation of the sacrum and the presacral region in patients with anal stenosis with or without funnel anus. Family members of index cases should be considered for evaluation even if they are asymptomatic.
journal_name
J Pediatr Surgjournal_title
Journal of pediatric surgeryauthors
Zu S,Winberg J,Arnberg F,Palmer G,Svensson PJ,Wester T,Nordenskjöld Adoi
10.1016/j.jpedsurg.2011.02.039subject
Has Abstractpub_date
2011-07-01 00:00:00pages
1390-5issue
7eissn
0022-3468issn
1531-5037pii
S0022-3468(11)00153-9journal_volume
46pub_type
杂志文章abstract:BACKGROUND:No consensus exists among surgeons regarding the optimal treatment of complicated acute appendicitis in children (CAA). Existing studies present heterogeneity of data and only few studies analyzed free perforated appendicitis (FPA) separately from appendicular abscess (AAb) and appendicular phlegmon (AP). M...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章,meta分析
doi:10.1016/j.jpedsurg.2019.01.065
更新日期:2019-11-01 00:00:00
abstract::Pediatric surgeons brought forth non-operative treatment for children with blunt spleen injury more than 50 years ago. At the time, this proposal was deemed reckless by many adult surgeons, and debate ensued for decades. Despite criticisms, pediatric surgeons refined the clinical pathways for children with spleen inju...
journal_title:Journal of pediatric surgery
pub_type: 古典文章,历史文章,杂志文章,评审
doi:10.1016/j.jpedsurg.2018.10.026
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:Minimally invasive treatments for nonparasitic splenic cysts are well described. Recent evidence suggests that laparoscopic splenic cystectomy is associated with high recurrence rates in children. Because these cysts are uncommon, no large series is available. We reviewed our clinical data focusing on cyst r...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2007.12.052
更新日期:2008-09-01 00:00:00
abstract::An instance of fibrous hamartoma of infancy (FHI) in the perianal region of an 8-mo-old infant, a hitherto unreported location, is described. The majority of the reported cases occur in the torso and upper extremities. The differential diagnostic features which aid differentiating FHI from other conditions is discusse...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(79)80582-5
更新日期:1979-02-01 00:00:00
abstract:BACKGROUND:Within the adult population, there exist numerous validated risk stratification tools aimed at predicting postoperative outcomes using preoperative and intraoperative parameters. However, similar tools for the pediatric population are scarce. We previously developed and reported on a scoring system to predic...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2013.04.017
更新日期:2013-10-01 00:00:00
abstract:BACKGROUND/PURPOSE:We initiated a pediatric surgical program including a caregiver for the induction of anesthesia. We measured preoperative midazolam administration, preoperative time, induction time, and program satisfaction. METHODS:Families with children undergoing surgery during the study period were included. Pr...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2018.10.015
更新日期:2019-01-01 00:00:00
abstract::We modified conventional hepatic portoenterostomy by pulling the remnant fibrous mass caudally and placing 5 or 6 numbered and individually clamped absorbable 5-0 double-needle sutures horizontally in the liver surface of the posterior side of the remnant fibrous mass before excision and apposing the posterior and ant...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2005.12.056
更新日期:2006-05-01 00:00:00
abstract:PURPOSE:Injury epidemiology is the underappreciated foundation of injury prevention and control strategies. Given the substantial disparity of infant injury-related mortality between African Americans (AA) and whites in our region, we sought to better understand the epidemiology of infant injury-related mortality rates...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2006.09.015
更新日期:2007-01-01 00:00:00
abstract::Fetal surgery is a treatment option for fetuses with congenital cystic adenomatoid malformation (CCAM) of the lung who develop hydrops before 32 weeks of gestation. We report on a fetus with CCAM and hydrops who underwent subtotal resection of a huge right, lower lobe CCAM at 20 weeks of gestation. Postnatally, the in...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2005.11.040
更新日期:2006-02-01 00:00:00
abstract:PURPOSE:The aim of this study was to review the need for regular endoscopic biopsy of Barrett's esophagus in children. METHODS:This was a retrospective case-notes review of 38 children with Barrett's esophagus treated between January 1982 and August 1997. The mean age at diagnosis was 6.3 years (range, 1 to 15 years)....
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(99)90235-x
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVE:The objective of this study is to assess the safety of fibrinolytic therapy using tissue plasminogen activator (tPA) in children with complex intra-abdominal abscesses. SUMMARY BACKGROUND DATA:Intra-abdominal abscesses are common in children. Antibiotics and percutaneous drainage are the mainstays of treatme...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2011.12.006
更新日期:2012-07-01 00:00:00
abstract::Bile ducts of Luschka (also called supravesicular ducts) are small bile ducts in the gallbladder bed. Although they do not drain any liver parenchyma, they can be a source of bile leak or biliary peritonitis after cholecystectomy in both adults and children, as shown in this case report. As a reminder, variations of b...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2003.08.008
更新日期:2003-11-01 00:00:00
abstract:BACKGROUND:Liver transplantation using split adult segmental grafts in infants can be a technical challenge because the small abdominal cavity cannot comfortably accommodate the graft, leading to compression. This size mismatch can be a particularly difficult problem when the anteroposterior diameter of the graft is gr...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2008.05.022
更新日期:2008-09-01 00:00:00
abstract:PURPOSE:The aim of this study was to evaluate the laparoscopic repair of isolated intestinal injuries in children who sustain focal abdominal trauma. METHODS:A retrospective review was conducted of all patients 16 years and younger who required surgery for traumatic bowel injuries during a 5-year period at 2 universit...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2006.06.049
更新日期:2006-11-01 00:00:00
abstract::As a result of our experience and a review of the literature, early investigation by endoscopic retrograde cholangiopancreaticography (ERCP) and surgical intervention is recommended in chronic relapsing pancreatitis in childhood. ...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/0022-3468(91)90905-9
更新日期:1991-02-01 00:00:00
abstract::Omphalopagus twins were separated in the first 48 hours of life. Preoperative evaluation did not disclose either their conjoined intestines or their conjoined biliary tract; intraoperative evaluation, including an operative cholangiogram, was required to determine if separation was possible. The intestines were divide...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(89)80598-6
更新日期:1989-09-01 00:00:00
abstract::The management of pediatric empyema remains controversial. An experimental study was undertaken to evaluate the role of bacteria in the evolution and severity of empyema, using specific bacteria that are pathogens of empyema in children. A rabbit model was used. The groups were Haemophilus influenzae (n = 9), Bacteroi...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/0022-3468(94)90737-4
更新日期:1994-05-01 00:00:00
abstract:BACKGROUND/PURPOSE:The aim of this study was to determine the preliminary impact of work hour regulations on pediatric surgical training. METHODS:An anonymous survey was sent to all program directors (PDs) and fellows to identify changes in pediatric surgery fellowship programs. RESULTS:Ninety-three percent of progra...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2004.09.014
更新日期:2005-01-01 00:00:00
abstract::Renal cell carcinoma arising from epithelial cells of the renal tubule is a highly aggressive and malignant tumor in all ages. Less than 2% of cases occur in childhood, relatively in older age group. Only a few pediatric series have been presented in the English literature. Tumor is presented with characteristic findi...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章,评审
doi:10.1016/j.jpedsurg.2005.02.013
更新日期:2005-05-01 00:00:00
abstract:BACKGROUND:Intrahepatic cystic lesion (ICL) is a common complication for biliary atresia post-Kasai portoenterostomy. The purpose of this study was to review the cases in our hospital and assess the correlation between characteristics of ICL and clinical outcomes. METHODS:We retrospectively analyzed 787 cases of bilia...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2019.08.027
更新日期:2019-12-01 00:00:00
abstract::The peak velocity for fetal weight gain occurs in the last few weeks of pregnancy. As the fetus matures, it swallows and absorbs an increasing amount of amniotic fluid, which contributes to the growth of the fetus. The authors studied cases of small intestinal atresia (IA) treated over 9 years to determine whether amn...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/0022-3468(94)90816-8
更新日期:1994-09-01 00:00:00
abstract:AIMS:To outline the use of radiological investigations in patients with congenital portosystemic shunts (CPS) and to assess the degree of portal venous deprivation in relation to the development of liver tumors. METHODS:Single center retrospective cohort study of all patients with CPS referred from 1990 to 2016. Radio...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2019.05.027
更新日期:2020-04-01 00:00:00
abstract::Branchial abnormalities constitute 32% to 45% of all neck pathologies in children. They may be a part of branchiootorenal (BOR) syndrome, which is characterized by branchial arch anomalies, preauricular pits, hearing impairment, and renal malformations. Typically, the management of a branchial fistula does not necessa...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章,评审
doi:10.1016/j.jpedsurg.2008.10.034
更新日期:2009-03-01 00:00:00
abstract:BACKGROUND:Femoral hernias in children are rare and often misdiagnosed. The classic treatment is through an open anterior approach. Since the advent of laparoscopic treatment of inguinal hernia in children, laparoscopy has been proposed to offer an accurate diagnosis and treatment, especially in case of recurrent herni...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2009.01.029
更新日期:2009-05-01 00:00:00
abstract:BACKGROUND:Pyriform sinus fistula (PSF) is a rare congenital anomaly, and the preferred definitive treatment is yet to be verified. In this study, we investigated the treatment outcomes of PSF specifically comparing endoscopic-assisted surgery and endoscopic radiofrequency ablation (RA). METHODS:The medical records of...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2020.06.039
更新日期:2020-07-01 00:00:00
abstract::Major rectal bleeding may occur in children and adults who have extensive hemangiomatous involvement of the pelvis and rectosigmoid colon, as in the Kleppel-Trenaunay syndrome (KTS). Conventional surgical techniques such as bowel resection and colostomy have often been associated with large blood loss and/or incontine...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/0022-3468(93)90235-d
更新日期:1993-03-01 00:00:00
abstract:BACKGROUND:Clinical experience shows that the primary diagnosis of mesenchymal hamartoma (MHL) and embryonal sarcoma of the liver (ESL) recurrently is mistaken, leading to inadequate managements. We evaluated the accuracy of the primary diagnosis of those liver tumors, compared with the final histological diagnosis. M...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2014.04.005
更新日期:2014-09-01 00:00:00
abstract:PURPOSE:Precise excision of neuroblastoma is challenging, especially when tumors adhere to vital structures. Indocyanine green (ICG), an FDA-approved dye with absorption peaking at 800 nm, can absorb the near IR laser energy and release heat in the dyed tissue. We hypothesize that by injecting ICG at tumor sites follow...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2018.08.013
更新日期:2018-12-01 00:00:00
abstract::Splenectomy is a recognized factor predisposing to the late complication of serious sepsis. The meningococcus has been listed as an important organism in postsplenectomy infection. A survey of the literature, however, revealed a total of only 13 documented case reports over a 31-year period, including ten pediatric ca...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(86)80195-6
更新日期:1986-04-01 00:00:00
abstract:BACKGROUND:Laparoscopic inguinal hernia repair techniques close the internal ring with a suture. Concern has been raised whether or not the testicular vessels are compromised with this technique. This study was undertaken to evaluate pre- and postoperative testicular perfusion and to compare it with healthy controls. ...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2007.09.033
更新日期:2008-01-01 00:00:00