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The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research activities. The consortium attempts to recruit at least 1,000 ARM cases. DNA(More)
PURPOSE The aim of the study was to evaluate patient demographics, classification and location of the atresia, operative management, postoperative care, and outcome in 114 infants with jejunoileal atresia (JIA) over a period of more than 3 decades. METHODS This was a retrospective case series in a tertiary care teaching hospital. Records of all patients(More)
BACKGROUND The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic and environmental risk factors. The aim of the present study was to present the first results on clinical data of a large European cohort of ARM patients based on our registry. METHODS In 2010, the registry(More)
Urological anomalies are frequently seen in patients with anorectal malformations (ARM) and can result in upper urinary tract deterioration. Whether the current method of screening is valid, adequate and needed for all patients is not clear. We, therefore, evaluated the urological screening methods in our ARM patients for changes in urological treatment,(More)
OBJECTIVE To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs). DESIGN A population-based case-control study. SETTING Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980-2008. POPULATION The study population consisted of 1417 cases with ARM, including 648(More)
Kaposiform hemangioendothelioma is a rare vascular tumor in children. Especially, in association with the Kasabach-Merritt Phenomenon it can be life threatening. The management of these patients is very difficult and an aggressive treatment regime is required. Several multimodality and chemotherapeutic regimens have been described but with variable success(More)
The combination of a presacral mass, a sacral bone deformity, and an anorectal malformation are also known as the Currarino triad or Currarino syndrome. The syndrome is associated with a very high rate of severe and intractable constipation and urinary incontinence. However, it can also result in less common complaints and symptoms. Although the syndrome is(More)
Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US. However, its genetic etiology remains mostly elusive. VACTERL association is a rare disorder that involves congenital abnormalities in(More)
Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal(More)
BACKGROUND/AIMS Cancer cachexia is characterized by loss of lean body mass. Under this condition peripheral proteins are broken down and transferred to visceral organs and the tumor. The liver is the principal organ in the regulation of protein and amino acid metabolism, but liver amino acid kinetics in cancer are unclear. Therefore, we examined the effects(More)