Parents reported reduced symptoms and improved satisfaction after fundoplication and their perceptions were an important outcome measure.

Aim: Fundoplication is required for children with chronic recurrent gastro-oesophageal reflux disease (GERD). The aim of this study was to report parental perceptions of symptoms and overall satisfaction with the long-term course following fundoplication with special reference to patients with GERD risk factors.

Methods: We studied 34 patients, with a median age of 6.

Helicobacter pylori in children.

Helicobacter pylori infection in early childhood may differ in many aspects compared to infection in adulthood: the immune response in the gut, the type and prevalence of complications within and outside the stomach, and the impact on long-term health. In high prevalence countries, transient infections seem to be common in infants and toddlers, and the consequences of this phenomenon on the short- and long-term immune response are still unclear. Other controversial issues are related to the question of which H.

Probiotics and Prebiotics for Prevention of Food Allergy: Indications and Recommendations by Societies and Institutions.

Probiotics are defined as "live microorganisms that, when administered in adequate amounts, confer a health benefit on the host". Unfortunately, misuse of the term probiotic is very common. According to the regulation of the European food safety authority (EFSA) health claims on pre- and probiotics are not judged as favorable.

International Paediatric Mitochondrial Disease Scale.

Objective: There is an urgent need for reliable and universally applicable outcome measures for children with mitochondrial diseases. In this study, we aimed to adapt the currently available Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to the International Paediatric Mitochondrial Disease Scale (IPMDS) during a Delphi-based process with input from international collaborators, patients and caretakers, as well as a pilot reliability study in eight patients. Subsequently, we aimed to test the feasibility, construct validity and reliability of the IPMDS in a multicentre study.

Proximal muscular atrophy and weakness: An unusual adverse effect of deferasirox iron chelation therapy.

Deferasirox is a standard treatment for chronic transfusional iron overload. Adverse effects of deferasirox have been reported in large prospective studies. We report two cases of monozygotic twins manifesting with proximal muscular atrophy and weakness under deferasirox.

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

Germline GATA2 mutations cause cellular deficiencies with high propensity for myeloid disease. We investigated 426 children and adolescents with primary myelodysplastic syndrome (MDS) and 82 cases with secondary MDS enrolled in 2 consecutive prospective studies of the European Working Group of MDS in Childhood (EWOG-MDS) conducted in Germany over a period of 15 years. Germline GATA2 mutations accounted for 15% of advanced and 7% of all primary MDS cases, but were absent in children with MDS secondary to therapy or acquired aplastic anemia.

Six-minute walk test versus two-minute walk test in children with Duchenne muscular dystrophy: Is more time more information?

Background/purpose: The six minute walk test is a widely accepted primary outcome parameter in most studies in Duchenne muscular dystrophy (DMD). To compare information obtained by the six minute walk distance (6MWD) test and the two minute walk distance (2MWD) in patients with DMD, a cohort of 13 voluntary DMD boys did a repeated six minute walking test.

Methods: Patients had to be ambulatory with a physical disability according to Levels 1-3 on the Vignos-Scale for lower extremity.

Improving postoperative pain management in children by providing regular training and an updated pain therapy concept.

Background: In recent years, children's hospitals have increasingly implemented postoperative pain management protocols to reduce postoperative pain and improve patient satisfaction. The effectiveness and long-term sustainability of such protocols have rarely been studied. Therefore, we conducted a prospective intervention study to assess the impact of regular training and improvement of clinical processes on the quality of postoperative pain management.

Live music reduces stress levels in very low-birthweight infants.

Aim: Music might benefit preterm infants in stressful, intensive care environments. However, data on stress level indicators, determined by salivary cortisol levels, are scarce. We evaluated the effect of live harp music on the stress level indicators of preterm infants in a neonatal intensive care unit (NICU).

Helicobacter pylori Infection in European children with gastro-duodenal ulcers and erosions.

Background: To analyze risk factors associated with gastro-duodenal ulcers and erosions in children.

Methods: Open, prospective, multicenter, case-control study carried out in 11 European countries in patients with gastric or duodenal ulcers/erosions and 2 age-matched controls each. Possible risk factors were recorded.

Malignancy and mortality in pediatric patients with inflammatory bowel disease: a multinational study from the porto pediatric IBD group.

Background: The combination of the severity of pediatric-onset inflammatory bowel disease (IBD) phenotypes and the need for intense medical treatment may increase the risk of malignancy and mortality, but evidence regarding the extent of the problem is scarce. Therefore, the Porto Pediatric IBD working group of ESPGHAN conducted a multinational-based survey of cancer and mortality in pediatric IBD.

Methods: A survey among pediatric gastroenterologists of 20 European countries and Israel on cancer and/or mortality in the pediatric patient population with IBD was undertaken.

Influence of fish oil or folate supplementation on the time course of plasma redox markers during pregnancy.

Maternal supplementation with long-chain PUFA, to improve infant neurological development, might cause additional increase of oxidative stress. Pregnant women aged 18-41 years were randomised into one of four supplementation groups. From week 22 on, they received supplements containing either modified fish oil (n 69), 5-methyl-tetrahydro-folate (n 65), both (n 64), or placebo (n 72).

Videoscopic fluorescence diagnosis of peritoneal and thoracic metastases from human hepatoblastoma in nude rats.

Background: Various medical disciplines are employing photodynamic diagnosis (PDD) when searching for malignancies. It is still unknown whether pediatric solid tumors such as hepatoblastoma are susceptible to this technique as well.

Methods: Human hepatoblastoma cells were injected into the abdomen or right thoracic cavity of nude rats.

Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly.

PEX19 has been shown to play a central role in the early steps of peroxisomal membrane synthesis. Computational database analysis of the PEX19 sequence revealed three different conserved domains: D1 (aa 1--87), D2 (aa 88--272), and D3 (aa 273--299). However, these domains have not yet been linked to specific biological functions.

Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.

Enteropeptidase (enterokinase [E.C.3.

Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy.

X-linked adrenoleukodystrophy (X-ALD) is a functional defect of the ALD Protein (ALDP), an ABC half-transporter localized in the peroxisomal membrane. It is characterized by defective, very long chain fatty acid (VLCFA) beta-oxidation, resulting in progressive cerebral demyelination. Since individual mutations in the ALD gene may result in a variety of clinical phenotypes, the existence of modifying genetic factors has been proposed.

Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.

We have detected a novel mutation in the adrenoleukodystrophy (ALD) gene in skin fibroblasts in primary culture derived from a patient suffering from the adrenocortical insufficiency-only-phenotype of ALD. This nonsense mutation (C2400T/Q672X) is the only mutation reported to date affecting exon 10. It leads to a translation product lacking the 74 C-terminal amino acids.

Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.

The cDNA of the peroxisomal membrane protein-1-like protein (PXMP1-L, synonyms: PMP69, P70R), a novel peroxisomal ATP binding cassette transporter of yet unknown function, has recently been cloned. The best known peroxisomal member of this protein family is the adrenoleukodystrophy protein, defects of which are the underlying cause of X-linked adrenoleukodystrophy (X-ALD). Here we describe the complete exon-intron structure (19 exons and 18 introns covering 16.

cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter.

We have cloned the cDNA containing the complete coding region of the human adrenoleukodystrophy related (ALDR) gene. The 2220-bp open reading frame encodes a 740-amino-acid polypeptide with a predicted molecular weight of 83.3 kDa.

Primary structure of human PMP69, a putative peroxisomal ABC-transporter.

We have cloned the cDNA of a novel human ABC-half-transporter highly similar to peroxisomal ABC-half-transporters such as the adrenoleukodystrophy protein (ALDP) and the peroxisomal protein 70 (PMP70). This 2927-bp cDNA codes for a 606 aminoacid (68.6 kDa) protein that was designated PMP69 (putative peroxisomal membrane protein).

Ileocolic intussusception: an unusual complication in a newborn with intestinal neuronal dysplasia.

Intestinal neuronal dysplasia type B (IND B) represents a congenital malformation of the enteric nervous system causing disorders of intestinal motility, e. g., chronic constipation.