Abstract：
BACKGROUND:The risk of familial transmission in Hirschsprung's disease (HSCR) currently lacks correlation between the clinical phenotype and the underlying genetic factors. The aim of this study was to clinically evaluate familial HSCR transmission and to correlate with the genetic background. METHODS:Clinical and gene analysis of familial HSCR patients were explored. DNA from 45 patients (35 kindreds) was screened for genetic variations of the RET, and EDNRB genes were screened for genetic variation by semi-automated bi-directional sequencing analysis and matched to controls. MAIN RESULTS:Male:female ratio (3:1) had a female proband in 4 families. Aganglionosis was significantly more frequent with total colonic aganglionosis (TCA) in 40% familial cases (viz: 17/43 (43%) vs. 19/342 non-familial patients (5.6%) (p<0.01)). Transmission of S-HSCR was observed in 13 (31%), which was associated with EDNRB variation. RET gene promoter variation correlated with extended aganglionosis in 6/35 kindreds (17%). In 3 kindreds, both significant EDNRB and RET mutations were identified and where present were associated with increased penetrance in succeeding generations. An increased penetrance with succeeding generations occurred in 6 (14%). In a further 3 generation family, extensive variations in exon 6, 13, and 18 affected 3 males with progressive penetration and aganglionic length, including total intestinal aganglionosis in the further offspring. RET and MEN association was noted in 5 kindreds (14.3%) related to RET variations at Cysteine sites. CONCLUSIONS:Cumulative effects of the RET and EDNRB genes contribute to long-segment and total colonic aganglionosis.
journal_name
J Pediatr Surgjournal_title
Journal of pediatric surgeryauthors
Moore SW,Zaahl Mdoi
10.1016/j.jpedsurg.2014.11.016subject
Has Abstractpub_date
2015-02-01 00:00:00pages
285-8issue
2eissn
0022-3468issn
1531-5037pii
S0022-3468(14)00726-Xjournal_volume
50pub_type
杂志文章abstract：:This study aimed to determine whether laparoscopic splenectomy is more advantageous than open splenectomy in pediatric patients. Data from 61 patients treated between June 1983 and September 1994 were reviewed. Length of hospitalization, hospital costs, operating time, and postoperative complications were evaluated. F...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/s0022-3468(96)90330-9
更新日期：1996-01-01 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：:Hypertension is a known complication after renal trauma. The cause of posttraumatic hypertension can be renal scarring, infarction, hydonephrosis, infection, vascular injury, and parenchymal compression. The authors report on the case of a 16-year-old boy who experienced hypertension after blunt renal trauma. He had a...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/s0022-3468(97)90630-8
更新日期：1997-06-01 00:00:00
abstract：:Octreotide is used as a second-line treatment for hyerinsulinemic hypoglycemia in neonates who do not respond to diazoxide. We present a case of a full-term newborn with massive enterocolitis that developed after octreotide was started for the treatment of refractory hypoglycemia. Multiple intestinal resections were n...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/j.jpedsurg.2008.02.062
更新日期：2008-06-01 00:00:00
abstract：BACKGROUND:Pectus excavatum (PE) is the most common chest well deformity seen in children. In 1997, the Miniature Access Pectus Excavatum repair (MAPER) was presented by Nuss et al, adding a new option for PE repair. This operation entails placing a custom bent metal bar across the chest to mechanically raise the stern...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/j.jpedsurg.2004.01.046
更新日期：2004-05-01 00:00:00
abstract：:Carcinoma of the breast in the child is a rare pathologic entity, constitutes less than 1% of all breast lesions in this age group. The case of a girl with a left breast mass first noticed at 4.5 years of age is presented. An eccentric subareolar mass was excised at 6 years of age, sparing her breast bud. This biopsy ...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/s0022-3468(87)80116-1
更新日期：1987-07-01 00:00:00
abstract：:Intrathoracic stomach is a rare and serious congenital abnormality. The anomaly may be complicated by gastric volvulus and can lead to ischemic gastric infarction in the neonate. If diagnosed antenatally, neonatal management can be planned in advance so as to reduce morbidity. This anomaly must be differentiated from ...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/j.jpedsurg.2004.10.006
更新日期：2005-02-01 00:00:00
abstract：:The prevalence and type of life-threatening complications related to the minimally invasive repair of pectus excavatum (MIRPE) and bar removal are unknown and underreported. The purpose of this communication is to make surgeons aware of the risk of these life threatening complications as well as the modifications whic...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章,评审
doi：10.1016/j.jpedsurg.2017.07.020
更新日期：2018-04-01 00:00:00
abstract：:From June 1982 to November 1990, 37 patients, aged 13 to 19 years (35 males and 2 females), were treated in our division for neuropathic urinary incontinence with an artificial sphincter. All patients were treated before sphincter implantation with drugs, transurethral sphincterotomy in boys, and bladder flap urethrop...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/0022-3468(92)90200-q
更新日期：1992-11-01 00:00:00
abstract：:Traditionally, gastrointestinal contrast studies have been the mainstay of evaluating infantile gastrointestinal problems. Because of technological advancements, good ultrasonography (USG) machines can provide high-resolution images with graphic anatomical clarity, especially in infants and children and thus change th...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/j.jpedsurg.2009.05.019
更新日期：2009-10-01 00:00:00
abstract：PURPOSE:The aim of this study was to survey graduates of a university general surgical residency training program to determine factors that influenced their selection of a specialty field. METHODS:A 39-item questionnaire was mailed to 86 graduates of a university general surgery program who matriculated from 1975 to 1...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1053/jpsu.2001.28842
更新日期：2001-12-01 00:00:00
abstract：:Acute appendicitis is the most frequent urgent abdominal surgical pathology in children. Therapeutic decisions in patients who have undergone an appendectomy are made based on the macroscopic findings at the moment of surgery. There is high variability between surgical and histopathological findings. METHOD:Concordan...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/j.jpedsurg.2019.09.025
更新日期：2020-08-01 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：BACKGROUND/PURPOSE:Until now, minimally invasive surgery (MIS) has not had any therapeutic status for operable splenic trauma, because reliable sealing of larger defects is not possible with general techniques. METHODS:Fleece-bound sealing allows rapid, large-area sealing of erosions and defects, so that with the aid ...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1053/jpsu.2002.34460
更新日期：2002-08-01 00:00:00
abstract：:Irreversible ligation of the right common carotid artery and right internal jugular vein is usual in venoarterial extracorporeal membrane oxygenation (ECMO) for treatment of severe respiratory failure in neonates. Vessel ligation with ECMO may magnify risks of cerebral hemorrhage or infarction (CHI) and adversely affe...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/0022-3468(92)90099-s
更新日期：1992-01-01 00:00:00
abstract：PURPOSE:The aim of this study was to evaluate, using Doppler ultrasonography, the effects of different hernia repair techniques on testicular perfusion in the pediatric age group. METHODS:This study was based on a prospective clinical trial of 72 pediatric patients over 2 years of age with unilateral inguinal hernia. ...
journal_title：Journal of pediatric surgery
pub_type： 临床试验,杂志文章
doi：10.1016/j.jpedsurg.2012.03.044
更新日期：2012-09-01 00:00:00
abstract：:Neonates with congenital diaphragmatic hernias (CDH) often die because of pulmonary hypoplasia and high pulmonary vascular resistance (PVR). Pulmonary hypertension and right-to-left shunting precedes progressive hypoxia and death. PVR is increased by acidosis and by high airway pressures. High-frequency oscillation (H...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/s0022-3468(83)80030-x
更新日期：1983-12-01 00:00:00
abstract：OBJECTIVE:In this study we aimed to identify the effect of three different modalities (stenting, doxazosin and conservative follow-up) on stone free rates and complication rates for 10-20mm renal pelvic stones in pediatric patients who underwent shock wave lithotripsy. PATIENTS AND METHODS:In this study data from 241 ...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/j.jpedsurg.2014.11.045
更新日期：2015-09-01 00:00:00
abstract：:Pediatric, orthopedic, plastic, and hand surgeons perform the surgical correction of syndactylism. It is sometimes forgotten, however, that syndactylism can be part of a syndrome. The components of such a syndrome can each be life threatening. A 7-month-old boy was hospitalized for correction of cutaneous syndactylism...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/j.jpedsurg.2004.06.042
更新日期：2004-10-01 00:00:00
abstract：PURPOSE:The aim of this study was to identify and qualify the ethical dilemmas faced by pediatric surgery trainees. METHODS:An online survey was sent to pediatric surgery trainees graduating between 2005 and 2008. Consent was obtained, and study investigators were blinded to the identity of the respondents during data...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/j.jpedsurg.2008.02.016
更新日期：2008-06-01 00:00:00
abstract：PURPOSE:Lymphomas account for nearly 20% of the malignancies in childhood and the majority of patients with Hodgkin's Disease (HD) and non-Hodgkin's lymphoma (NHL) have radiological evidence of mediastinal involvement at presentation. Children with mediastinal tumors are at risk for the development of lethal airway obs...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/s0022-3468(97)90197-4
更新日期：1997-02-01 00:00:00
abstract：OBJECTIVE:This study evaluated the Trap-door button use (Cook Medical, Bloomington, IL) for antegrade enemas in children. METHODS:Since 2002, patients with fecal incontinence or encopresis and constipation underwent percutaneous cecostomy under laparoscopy using a button. Technical details are described. Age at surger...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/j.jpedsurg.2008.03.043
更新日期：2008-10-01 00:00:00
abstract：:A lateral skin-flap perineoplasty has been used in 15 patients born with an absent anal canal. The aim behind the introduction of this modification was the prevention of mucosal prolapse. On early assessment, this has been achieved in 11 of the cases. This represents a 50% improvement on our previous results. ...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/s0022-3468(84)80108-6
更新日期：1984-10-01 00:00:00
abstract：BACKGROUND/PURPOSE:Although epigastric hernias are common, there are no reports that describe the presentation and treatment of these defects in children. The authors reviewed their experience with these hernias to develop recommendations for their management in this age group. METHODS:Medical records were reviewed fo...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1053/jpsu.2000.19242
更新日期：2000-12-01 00:00:00
abstract：:Lumbocostovertebral syndrome is a rare clinical association syndrome rarely accompanied by associated VACTERL anomalies. Only one similar case has been reported previously. We describe the second case, where a male neonate born at 38 weeks of gestation had an unusually high number of congenital anomalies including tho...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/j.jpedsurg.2010.06.005
更新日期：2010-09-01 00:00:00
abstract：PURPOSE:To present the clinical and histological features of prepubertal testicular tumors (PTTs), the long-term experience of a single institution was reviewed. MATERIALS AND METHODS:A total of 62 prepubertal children who were treated for testicular tumors at Kanagawa Children's Medical Center from 1971 to 2014 were ...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/j.jpedsurg.2016.02.042
更新日期：2016-08-01 00:00:00
abstract：:The authors report on an infant who had multifocal mesenchymal hamartoma of the right posterior chest wall. The tumors were found incidentally, on a chest radiograph, during routine evaluation for upper respiratory tract infection. Resection of both lesions with chest wall reconstruction was performed, with a good res...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/s0022-3468(96)90684-3
更新日期：1996-05-01 00:00:00
abstract：:The cumulative evidence supports nonoperative management of hepatic trauma in children who are hemodynamically stable and who require less than 50% blood volume replacement to maintain a stable blood count. This management approach, based on the use of either serial computed tomography scans, liver/spleen scans, or ul...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/0022-3468(92)90503-y
更新日期：1992-12-01 00:00:00
abstract：:Since the first successful repair of a complete laryngotracheoesophageal cleft (LTEC) to the carina in 1982, three newborn infants were observed with a particularly difficult variant in which the cleft extends beyond the carina into the mainstem bronchi. This type IV LTEC creates a long common tracheoesophagus, whose ...
journal_title：Journal of pediatric surgery
pub_type： 杂志文章
doi：10.1016/0022-3468(91)90844-j
更新日期：1991-08-01 00:00:00
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
