Abstract:
:A 45,X/46,Xidic(Y)(q11.2) mosaicism was found in a 4-year-old boy. The clinical appearance was characterized by bilateral cryptorchidism, penoscrotal hypospadias, short penis, and coarctation of the aorta. The latter is the only abnormality also seen in Turner syndrome. A biopsy of the gonads revealed normal prepubertal testicular tissue. A chromosome analysis in all boys with penoscrotal, scrotal, or perineal hypospadias and a thorough examination of the heart in children with 45,X/46,XY mosaicism are recommended.
journal_name
Pediatr Surg Intjournal_title
Pediatric surgery internationalauthors
Konrad D,Sossai R,Winklehner HL,Binkert F,Artan S,Schärli AFdoi
10.1007/s003830050731subject
Has Abstractpub_date
2000-01-01 00:00:00pages
226-8issue
3eissn
0179-0358issn
1437-9813journal_volume
16pub_type
杂志文章abstract::Biliary atresia (BA) is a common cause of infantile cholestasis. Disease progression leads to intra hepaticfibrosis, and thus to the development of PH and EV. Our objective has been to study the relationship between procollagen-III-peptide (PIIIP) and the severity of EV in children with BA after Kasai operation. Child...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s003830200007
更新日期:2002-01-01 00:00:00
abstract::The management of Hirschsprung's disease (HD) has made dramatic strides over the last 20 years. Research into the embryological development and migration of ganglion cell has enabled a greater understanding of the pathogenesis of the disease. Coupled with new techniques in surgery, such as laparoscopy-assisted pull-th...
journal_title:Pediatric surgery international
pub_type: 杂志文章,评审
doi:10.1007/s00383-005-1551-1
更新日期:2005-10-01 00:00:00
abstract::We present three cases of abdominal and abdomino-thoracic extra-lobar pulmonary sequestrations detected by antenatal ultrasound (US) over a 12-month period. In addition, we briefly refer to a case previously described. A cystic mass was demonstrated in the left upper abdomen of the fetus in all four cases, with two ex...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/BF00183739
更新日期:1996-03-01 00:00:00
abstract:PURPOSE:We aim to evaluate the diagnostic performance and relationship between clinical characteristics, imaging findings, and final diagnosis for the neonatal contrast enema (CE). METHODS:Retrospective 10-year review of all neonatal CEs including imaging findings, clinical information, indication, and final diagnosis...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-020-04701-4
更新日期:2020-09-01 00:00:00
abstract::Allgrove syndrome is a rare genetic disorder typically manifested by alacrima, achalasia, and adrenal insufficiency, and is one of the rare causes of achalasia in infants. While the gold standard for achalasia treatment in adults is an esophageal myotomy with fundoplication, a standard treatment for infantile achalasi...
journal_title:Pediatric surgery international
pub_type: 杂志文章,评审
doi:10.1007/s00383-014-3493-y
更新日期:2014-06-01 00:00:00
abstract:BACKGROUND:There are many advantages of a SMOF emulsion (SMOF-lipid), such as liver-protective properties and anti-inflammatory effects. The objective of this study was to compare the clinical outcomes of SMOF-lipid with medium-chain triglycerides (MCT) /long-chain triglycerides (LCT) in infants after intestinal surger...
journal_title:Pediatric surgery international
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00383-018-4422-2
更新日期:2019-03-01 00:00:00
abstract:PURPOSE:Primary spontaneous pneumothorax (PSP) is managed in accordance with the adult British Thoracic Society (BTS) guidelines due to lack of paediatric evidence and consensus. We aim to highlight the differences and provide a best practice surgical management strategy for PSP based on experience of two major paediat...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-015-3787-8
更新日期:2015-12-01 00:00:00
abstract::Endoscopic management is the accepted form of treatment for posterior urethral valves (PUV). The Nd:YAG laser has been in clinical use for many decades, but has been used only sporadically for ablating PUV. In this study, PUV were diagnosed by micturating cystourethrogram (MCU). In the 9-month period beginning March 1...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s003830050018
更新日期:2000-01-01 00:00:00
abstract::Neonates with congenital tracheal stenosis (CTS) sometimes develop respiratory distress and may be difficult to intubate. We used balloon tracheoplasty with a rigid bronchoscope for emergency airway management in neonates with symptomatic CTS. Herein, we describe the balloon tracheoplasty procedure and the early outco...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-014-3571-1
更新日期:2014-09-01 00:00:00
abstract::Hirschsprung's disease is characterized by the absence of ganglion cells in the distal bowel and extends proximally for varying distances. In recent years, the purinergic P2Y receptors have begun to receive much attention as they have been recognised as major ATP receptors in many regions of the body, including the in...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-007-2044-1
更新日期:2008-01-01 00:00:00
abstract::In the published version, the Acknowledgements section was missing a funding note of co-author Dr C Verrill. The corrected version should read as follows. ...
journal_title:Pediatric surgery international
pub_type: 已发布勘误
doi:10.1007/s00383-020-04624-0
更新日期:2020-04-01 00:00:00
abstract:BACKGROUND:The high mortality rate in congenital diaphragmatic hernia (CDH) is attributed to pulmonary hypoplasia (PH). Insulin-like growth factor 2 (IGF2) is an important regulator of fetal growth. The highest levels of IGF2 expression are found in the placenta, which are negatively regulated by decidual retinoid acid...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-013-3449-7
更新日期:2014-02-01 00:00:00
abstract::An infant developed massive lower gastrointestinal haemorrhage secondary to necrotising enterocolitis after cardiac surgery. The haemorrhage was only controlled following a colectomy. ...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s003830050613
更新日期:1999-07-01 00:00:00
abstract:INTRODUCTION:The Morgagni hernia (MH) accounts for 3-4% of congenital diaphragmatic hernias. There is a paucity of data regarding this rare defect. The purpose of this study is to describe the characteristics of children with MH, surgical approaches for repair, and patient outcomes. METHODS:Pediatric patients (ages 0-...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-017-4078-3
更新日期:2017-07-01 00:00:00
abstract::Pulmonary sequestrations are non-functional masses of lung tissue lacking normal communication with the tracheobronchial tree and systemic-circulation-derived blood supply. The disconnection between the normal airway and pulmonary arterial supply prevents pulmonary sequestrations from participating in respiration whil...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-017-4072-9
更新日期:2017-07-01 00:00:00
abstract::Controversy exists on the optimal age for elective resection of asymptomatic congenital pulmonary airway malformation. Current recommendations vary widely, highlighting the overall lack of consensus. A systematic search of Embase, MEDLINE, CINAL, and CENTRAL was conducted in January 2016. Identified citations were scr...
journal_title:Pediatric surgery international
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00383-017-4079-2
更新日期:2017-06-01 00:00:00
abstract:INTRODUCTION:No protocol exists for prophylaxis or therapeutic management of peripherally inserted central catheter (PICC) related deep venous thrombosis (DVT) in children. Currently, very few patients are provided prophylaxis for DVT. In this study, we analyzed our current practice of PICC placement to identify the fr...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-013-3259-y
更新日期:2013-05-01 00:00:00
abstract:PURPOSE:For 30 years, we have consecutively performed rectal mucosal punch biopsy to diagnose Hirschsprung's disease. The aim of this study was to evaluate the safety of our technique. METHODS:Patients with suspected Hirschsprung's disease who underwent punch biopsy, including our original "K-PUNCH" method using an S-...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-016-4010-2
更新日期:2017-02-01 00:00:00
abstract:PURPOSE:Ultraviolet (UV) radiation adversely affects skin health at cellular and molecular levels. Hence, UV radiation can directly induce inflammatory responses in the dermis by inducing erythema, edema, inflammation, dermal fibroblasts alterations, and extracellular matrix modifications. METHODS:Human keratinocytes,...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-018-4384-4
更新日期:2019-01-01 00:00:00
abstract:PURPOSE:Historically, the majority of patients with colonic atresia have been managed by ostomy creation at the time of initial operation; conversely, we have tended to treat the atresia with resection and anastomosis. The purpose of this study is to determine the rate of concomitant Hirschsprung's disease and to ident...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-009-2401-3
更新日期:2009-07-01 00:00:00
abstract::Retrocaval ureter is a relatively rare anomaly that usually manifests in the third or fourth decades. Symptoms are due to ureteric obstruction, either extrinsic by the abnormal inferior vena cava (IVC), or intrinsic ureteric hypoplasia. Surgery is needed for symptomatic cases and involves transection and relocation of...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-003-1038-x
更新日期:2004-02-01 00:00:00
abstract:PURPOSE:Partial hepatectomy (PH) can be an inevitable surgical therapy in some conditions, such as hepatic malignancies, trauma or partial liver transplantation. Its capacity for regeneration distinguishes the liver from other essential organs. Regeneration is a complex process involving growth factors, cytokines, tran...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-009-2529-1
更新日期:2010-02-01 00:00:00
abstract::At bilateral orchiopexy bilateral biopsies may be indicated to determine fertility potential. It is currently unknown if the serum inhibin B levels at time of orchiopexy reflect the testicular status of the bilaterally cryptorchid child. The aim of this study was to relate the results of inhibin B and FSH measurements...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-006-1839-9
更新日期:2007-02-01 00:00:00
abstract::The management of a critical airway in infants and toddlers with congenital tracheal stenosis (CTS) continues to be an enormous challenge to the surgeon. Until recently, this condition often proved fatal. Improvements in surgical techniques, anesthetic management, and postoperative critical care have resulted in succe...
journal_title:Pediatric surgery international
pub_type: 杂志文章,评审
doi:10.1007/s003830050028
更新日期:2000-01-01 00:00:00
abstract::A neonate with gastroschisis had silo placement and near-infrared spectroscopy (NIRS) monitoring of intestinal haemoglobin oxygen saturation (RSO2). An ischemic loop of bowel demonstrated decreased RSO2, with reversal of clinical ischemia and RSO2 postoperatively. This demonstrates possible advantage of monitoring int...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-014-3591-x
更新日期:2014-11-01 00:00:00
abstract::Colostomy shift en masse is a novel technique in which the colostomy is shifted along with a rim of skin and abdominal wall tissue. This provides additional length of distal bowel if needed during pull-through anastomosis. We have treated three cases (two Hirschsprung's disease and one anorectal malformation) with col...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-003-1043-0
更新日期:2003-11-01 00:00:00
abstract:BACKGROUND:Variation exists in the diagnostic testing for gastroesophageal reflux (GER) in infants and in the application of surgical therapy. There has been an increase in antireflux surgery (ARS) since the development of laparoscopy but the outcomes in high-risk infants is unclear. This study examines the results of ...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-018-4281-x
更新日期:2018-07-01 00:00:00
abstract::We review a single surgeon and surgical centre's experience with congenital cystic adenomatoid malformation of the lung (CCAML) in relation to clinical spectrum, operative experience, and postoperative course. A retrospective hospital record review was done on surgically treated cases of CCAML over a 10-year period, f...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-004-1225-4
更新日期:2004-07-01 00:00:00
abstract::Despite the increasing incidence of gastroschisis, the cause remains unknown. Genetic factors may contribute to bowel anomalies as demonstrated by cases of gastroschisis in twins and siblings, and other types of bowel anomalies in twins. Atresia of the colon represents one of the rarest causes of neonatal intestinal o...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-009-2353-7
更新日期:2009-05-01 00:00:00
abstract:INTRODUCTION:Recent advances in laparoscopic surgery as well as increasing experience with these techniques have led to the selection of laparoscopic surgery for hemi/partial nephroureterectomy in children with a non/poorly functioning moiety in a duplex kidney. There is very little data on the long term follow-up of s...
journal_title:Pediatric surgery international
pub_type: 杂志文章
doi:10.1007/s00383-011-2883-7
更新日期:2011-07-01 00:00:00