Maternal and paternal risk factors for anorectal malformations: a Dutch case-control study.

Background: Anorectal malformations (ARM) are major congenital malformations that usually require a multitude of surgical procedures at a very early age and have a large impact on the lives of patients and their parents. The causes of ARM are still largely unknown, but they are assumed to have a multifactorial etiology. A few studies focused on environmental risk factors, but evidence is still scarce.

Minor and giant omphalocele: long-term outcomes and quality of life.

Purpose: Long-term outcome and quality of life in omphalocele (OC) studies are mainly focused on cosmetic disorders with the abdominal scar and gastrointestinal disorders. The aim of this study was to compare long-term mortality, morbidity, and quality of life between patients with minor and giant OCs.

Methods: Records of 89 minor and 22 giant OC children were reviewed.

Decreased mortality but increased morbidity in neonates with jejunoileal atresia; a study of 114 cases over a 34-year period.

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 with JIA treated at the authors' institution between 1971 and 2004 were examined.

Factors affecting quality of life of children and adolescents with anorectal malformations or Hirschsprung disease.

Objectives: First, to compare the quality of life (QL) and perceived self-competence of children and adolescents with anorectal malformations or Hirschsprung disease with that of reference groups. Second, to identify predictors of QL.

Patients And Methods: A total of 491 patients with anorectal malformations or Hirschsprung disease were sent a questionnaire, which assessed QL (mental, physical), disease-specific functioning (defecation-related), perceived self-competence (self-esteem, athletic competencies, school attitude), and demographic characteristics (sex, age).

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Feingold syndrome (FS) is the most frequent cause of familial syndromic gastrointestinal atresia and follows autosomal dominant inheritance. FS is caused by germline mutations in or deletions of the MYCN gene. Previously, 12 different heterozygous MYCN mutations and two deletions containing multiple genes including MYCN were described.

Management of haemangiomas of infancy: a retrospective analysis and a treatment protocol.

Haemangiomas of infancy are common benign endothelial neoplasms that affect roughly 1:10 children. Treatment is indicated in complicated cases. We have evaluated treatment in a multidisciplinary setting.

Closure of giant omphaloceles by the abdominal wall component separation technique in infants.

Background/purpose: Several techniques have been described to repair giant omphaloceles. There is no procedure considered to be the criterion standard worldwide. The aim of the present prospective study was to analyze the early and late results of secondary closure of giant omphaloceles using the component separation technique (CST) in infants.

Explaining change in quality of life of children and adolescents with anorectal malformations or Hirschsprung disease.

Objectives: The purpose of this work was to examine changes in quality of life, disease-specific functioning, and psychosocial competencies of children and adolescents (8-16 years of age) with anorectal malformations or Hirschsprung disease and to identify predictors of change in quality of life by testing an explanatory model in which background variables explained changes in quality of life via changes in disease-specific functioning and psychosocial competencies.

Methods: Questionnaires were administered to 129 patients with anorectal malformations and 121 patients with Hirschsprung disease within a 3-year interval. Clinical and sociodemographic background variables were measured on the first occasion.

Hirschsprung's disease: healthcare meets the needs.

Objective: The objective of this study was to examine the types of healthcare services used by children, adolescents, and adults with Hirschsprung Disease (HD) in relation to the severity of the initial defect (mild, severe), whether additional care was needed, the provision of information, transfer to adult care, and satisfaction with the care provided.

Methods: Three hundred twenty (71%) HD patients, ages 6 to 54, completed a questionnaire that assessed the use of healthcare services, the need for more healthcare, the provision of information, the transfer to adult care and satisfaction with the provided care.

Results: In 6 months, 45% of the children, 14% of the adolescents, and 15% of the adults consulted a medical specialist.

The pathogenesis of hemangiomas: a review.

Learning Objectives: After reading this article, the participant should be able to: 1. Differentiate between hemangiomas and vascular malformations. 2.

Explaining change over time in quality of life of adult patients with anorectal malformations or Hirschsprung's disease.

Purpose: The aim of this study was to examine changes in the quality of life of adult patients with anorectal malformations or Hirschsprung's disease over a three-year interval and to identify demographic, clinical, and psychosocial variables that explain possible quality-of-life changes. Understanding the factors that affect changes in quality of life over time is particularly important to provide adequate care.

Methods: Questionnaires were administered to 261 patients (77 percent), with a three-year interval.

Anorectal malformations: does healthcare meet the needs?

Objectives: The first aim was to identify the types of healthcare services used by children, adolescents, and adults with anorectal malformation (ARM) in relation to the severity of their disease and to examine whether additional care was needed. The second aim was to evaluate specific areas in the healthcare system, including provided information, transfer from pediatric to adult care, and satisfaction with the provided care.

Methods: Three hundred eighty-six (61%) patients with ARM, ages 6 to 52, completed a questionnaire that assessed their use of healthcare services and the need for additional services.

Pericarditis as complication of appendicitis.

Pericarditis as a complication of appendicitis is a rare event. In a 25-year period we encountered two pediatric cases with this severe complication due to (a)typical presentation of appendicitis resulting in small bowel obstruction, intraabdominal abscesses, constrictive pericarditis, and purulent pericarditis.

Critical factors affecting quality of life of adult patients with anorectal malformations or Hirschsprung's disease.

Objectives: The first objective was to compare the quality of life of adult patients with anorectal malformations (ARM) or Hirschsprung's disease (HD) and to compare both groups with healthy people. And the second objective was to examine the factors that affect the quality of life of patients with ARM or HD, using a theoretical model in which patients' background characteristics explain quality of life via mediating disease-specific functioning and psychosocial functioning.

Methods: Three hundred and forty-one patients completed a questionnaire, which assessed sociodemographic characteristics, disease-specific and psychosocial functioning, and quality of life.

The long term outcome of feminizing genital surgery for congenital adrenal hyperplasia: anatomical, functional and cosmetic outcomes, psychosexual development, and satisfaction in adult female patients.

Background: There are only a few reports analyzing the long term outcome of feminizing surgery in females with congenital adrenal hyperplasia (CAH). Such analysis is crucial to evaluate the treatment and to make necessary adjustments.

Study Objectives: To evaluate the adult outcome after feminizing surgery in adult females with salt wasting CAH.