Course of life into adulthood of patients with biliary atresia: the achievement of developmental milestones in a nationwide cohort.

PURPOSE: To investigate the course of life of young adults diagnosed with biliary atresia (BA) in infancy by comparing patients who did and did not underwent transplantation with an age-matched Dutch reference group. METHODS: All patients from the Dutch BA registry, aged >18 years, were invited to complete the course of life questionnaire. RESULTS: Forty patients participated (response = 74%). Twenty-five had not undergone transplantation; 15 had undergone orthotopic liver transplantation. One significant between-group difference was found, namely in substance use and gambling. BA patients who underwent transplantation reported less use than the reference group (p = .01, moderate effect size). Additional moderate effect sizes were found for differences in psychosexual and social development and antisocial behavior. Patients who underwent transplantation had lower scores than one or both other groups. CONCLUSIONS: Development of BA survivors who did not undergo transplantation seems not delayed, whereas that of transplanted patients does seem somewhat delayed. However, patients who underwent transplantation display less risk behavior. Larger samples are necessary to confirm these findings.

Splenic size after division of the short gastric vessels in Nissen fundoplication in children.

PURPOSE: Nissen fundoplication is an effective treatment for gastro-esophageal reflux disease (GERD). Mobilization of the gastric fundus during fundoplication requires division of short gastric vessels of the spleen, which may cause splenic ischemia. The aim of this study was to determine if Nissen fundoplication results in hypotrophy of the spleen. METHODS: We performed pre-operative and post-operative ultrasound measurements of the spleen in children undergoing Nissen fundoplication. During operation, the surgeon estimated the compromised blood flow by assessment of the percentage of discoloration of the spleen. RESULTS: Twenty-four consecutive children were analyzed. Discoloration of the upper pole of the spleen was observed in 11 patients (48%) of a median estimated splenic surface of 20% (range 5-50%). The median ratio for pre-operative and post-operative length, width, and area of the spleen was 0.97, 1.03, and 0.96, respectively. The percentage of the estimated perfusion defect during surgery was not correlated with the ratios. In three patients, the area ratio was smaller than 0.8 (0.67-0.75), meaning that the area decreased with at least 20% after surgery. In none of these patients a discoloration was observed. CONCLUSION: Discoloration of the spleen after Nissen fundoplication is not associated with post-operative splenic atrophy.

Acid steatocrit: a reliable screening tool for steatorrhoea.

UNLABELLED: This study compared the acid steatocrit (AS) results of healthy children with those of sick children with and without gastrointestinal involvement. Stool samples of 166 children were investigated, comprising 50 healthy children, 26 asthma patients, and 90 patients with gastrointestinal problems divided into 34 treated cystic fibrosis (CF) patients with exocrine pancreatic insufficiency, 16 untreated coeliac disease (CD) patients and 40 patients with various gastrointestinal problems. The median values (5th-95th percentile) of AS results were 3.3% (0.0-21%) for healthy children, 4.5% (1.8-22.5%) for asthma patients, 24.7% (2.6-68.2%) for treated CF patients with exocrine pancreatic insufficiency, 19.8% (3-77.7%) for untreated CD patients and 5.5% (1.8-29%) for patients with various gastrointestinal diseases. CONCLUSION: The AS results of treated CF patients with exocrine pancreatic insufficiency and untreated CD patients were similar and significantly higher than those of healthy children and asthma patients. AS can be considered to be a reliable tool in screening for steatorrhoea in paediatric patients.

Effects of a proton-pump inhibitor in cystic fibrosis.

Most children with cystic fibrosis (CF) show persisting steatorrhoea even when treated with pancreatic enzyme. As a low duodenal pH could be responsible for this persisting fat loss, we evaluated the effects of a proton-pump inhibitor (lansoprazole) on both steatorrhoea and growth parameters in 15 CF patients, aged 3.1-22.6 y. Acid steatocrit, anthropometry and dual-energy X-ray absorptiometry were used to evaluate steatorrhoea and the nutritional status before, during and 3 months after stopping lansoprazole treatment (15 mg/d for 3 months). Mean +/- SD acid steatocrit values decreased from 37.1 +/- 8.8% to 28.5 +/- 10.6% (p = 0.02). Significant mean Z-score improvements were found for weight (+0.14; p = 0.02), height (+0.15; p = 0.03), subscapular (+0.61; p = 0.003), supra-iliac (+0.8; p = 0.002) and the sum of the four measured skinfolds (+0.61; p = 0.002). Z-scores deteriorated again after stopping lansoprazole. Fat mass and bone mineral content increased significantly on lansoprazole (p = 0.008 and p = 0.005, respectively). We conclude that lansoprazole as adjuvant therapy significantly improves both steatorrhoea and the nutritional status in CF children who maintain steatorrhoea while on pancreatic enzymes.

Strong variable clinical presentation in 3 patients with 7q terminal deletion.

We report 3 patients with a 7q terminal deletion. The first, a 7 weeks old female, with a de novo 7q36-->qter deletion, was microcephalic and had a partial hypoplasia of the corpus callosum on the MRI-scan of the brain. The second, a 3 months old male, showed microcephaly, disproportionate growth retardation, truncal obesity and facial dysmorfism giving the clinical impression of a "microcephalic primordial dwarfism (osteodysplastic type)". At the age of 6 months he had developed a single maxillary central incisor suggesting a minimal form of holoprosencephaly (HPE). Additional FISH-studies showed a 7q36.1-->qter deletion, as the unbalanced product of a t(5;7)(q35.2;q36.1)pat. The de novo 7q36-->qter deletion in the third patient, a 5 years old female, was associated with borderline intelligence, mild microcephaly, small midface, choanal narrowing and a single maxillary central incisor as a minimal form of HPE. CT- and MRI-scan of the brain were normal. In these 3 patients extensive FISH analysis was performed to investigate the possible involvement of the HPE gene region on chromosome 7q36. The target gene for HPE, the Sonic hedgehog gene (SHH) as well as several other genes important for normal brain development (En2;HOX1,HTR5A) were found to be deleted in all three patients. Our findings stress the importance of 7q36 microdeletion studies in patients with even minimal signs of HPE, as relative microcephaly with small midface (choanal narrowing), agenesis/hypoplasia of the corpus callosum/septum pellucidum, thalamic fusion or a single maxillary central incisor.

Clinical use of acid steatocrit.

Malabsorption of fat is an important gastrointestinal cause of malnutrition and growth retardation in childhood. The gold standard for the evaluation of fat malabsorption is the faecal fat balance method. The acid steatocrit method has recently been introduced as a simple method to evaluate faecal fat. The present study was aimed at evaluating the acid steatocrit in clinical practice. Faecal fat excretion and acid steatocrit results were determined in 42 children, half with and half without fat malabsorption. Acid steatocrit results correlated significantly with both faecal fat excretion (p < 0.01) and faecal fat concentration (p < 0.001). Sensitivity and specificity of the acid steatocrit for the diagnosis of malabsorption were 90% and 100%, respectively. We consider the acid steatocrit method useful for the screening and monitoring of patients with steatorrhoea.

Acid steatocrit during infancy.

The faecal acid steatocrit is an improved steatocrit method for the evaluation of faecal fat. The present study was set up in order to establish reference values during the first year of life. Faecal acid steatocrit values were determined in 58 healthy full term and in 16 healthy prematurely born infants. Very high acid steatocrit results (above 60%) were found in all premature and many formula-fed term infants during the first 6 months of age, thereafter with values below 10%. In 40- to 120-day-old infants acid steatocrit results of human milk-fed infants were significantly lower than those of formula-fed infants (p < 0.01). We conclude that high acid steatocrit results after the age of 6 months are indicative of fat malabsorption, while before this age high values can be due to "physiological steatorrhoea". The acid steatocrit should be useful for the evaluation of milk fat absorption in infants.

Improved steatocrit results obtained by acidification of fecal homogenates are due to improved fat extraction.

Conflicting results have been reported on the value of the steatocrit as a screening test for steatorrhea. We recently modified the test procedure by fecal acidification with the hope of improving fat extraction and consequently the sensitivity of the test. The aim of the present study was to ascertain whether or not fecal acidification led to improved fat extraction by comparing the fat content of both fatty and solid layers obtained by centrifugation of 12 acidified (acid steatocrit) and unacidified (classical steatocrit) steatorrheal stool samples. The fat content of fatty and solid layers was evaluated using the semiquantitative (+ = 1, +2 = 2, +3 = 3) scoring system described by Drummey for the interpretation of the Sudan microscopic method for fecal fat. The fatty layers sum of scores for the 12 samples examined was 31 and 16 for the acid and classical steatocrit, respectively. The solid layers sum of scores for the 12 samples was 13 and 24 for the acid and classical steatocrit, respectively. Fat extraction from stool samples was significantly improved after fecal sample acidification (p < 0.005). Acid steatocrit results agreed better with chemically measured fecal fat than classical steatocrit results. We conclude that fecal acidification, by improving fat extraction, increases the reliability of the steatocrit method for the detection of steatorrhea.

The acid steatocrit: a much improved method.

The steatocrit method has recently been introduced as a simple screening test for steatorrhea. As it seemed likely that separation of fecal homogenate by centrifugation into a lipid phase, a watery phase, and a solid phase would be pH-dependent, we evaluated the effect of fecal acidification on steatocrit results. We also compared classical and acid steatocrit results in healthy children and in patients with cystic fibrosis and studied the relationship between two steatocrit methods and fecal fat content as measured by a reference chemical method. Steatocrit results increased with the degree of fecal acidification, and maximal results were obtained at the lowest fecal pH values. Means and SEM for classical and acid steatocrit values were 1.1 +/- 0.4% (classical) versus 3.8 +/- 1% (acid) in controls (n = 6) and 5.4 +/- 1.9% (classical) versus 26.9 +/- 4.3% (acid) in cystic fibrosis patients (n = 9). The correlations between fecal fat content measured chemically and steatocrit results were 0.18 (p = 0.35) and 0.81 (p < 0.0001) for classical and acid steatocrit, respectively. We conclude that acidification of fecal homogenates leads to a marked improvement in the steatocrit method.