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Objective: In pediatric patients, indirect tests are preferred because of their less invasive character. Among those, faecal elastase-1 test has so far been shown been shown to have the highest sensitivity and specificity. However, the role of the faecal lipase test in the diagnostic work up for pancreatic insufficiency in cystic fibrosis (CF) patients has not been defined. Therefore, the aim of the present study was to compare the sensitivity and the specificity of faecal lipase test to the faecal elastase-1 test in the assessment of exocrine pancreatic function., Material and Methods: 63 CF patients and 95 healthy subjects (HS) were evaluated. In all subjects, faecal elastase-1 concentration (ELISA) and lipase activity (ELISA) were measured. In 50 HS, sample-to-sample (n=3) variation from the same stool and day-to-day variation from three consecutive stools were determined twice. The presence of pancreatic insufficiency patients was documented in 55 pancreatic insufficient CF patients by the determination of faecal fat excretion and in 12 pancreatic sufficient patients by the direct test. The sensitivity and specificity of the faecal elastase-1 test and faecal lipase test were compared., Results: The sample-to-sample variation (mean + SEM: 13.2+1.2% vs. 23.4+2.2%) and day-to-day variation (mean + SEM: 16.3+1.2% vs. 32.5+2.6%) were significantly lower (p<0.0001) for elastase-1 determinations than for lipase measurements. With the cut-off levels giving the same specificity for both tests (95.8%), the sensitivity of faecal elastase-1 test (87.3%) was significantly higher (p<0.04) than that of faecal lipase test (77.8%)., In Conclusion: Faecal lipase test is less useful in the assessment of exocrine pancreatic function sensitive than faecal elastase-1 test.

Objective: Exocrine pancreatic function in patients with cystic fibrosis (CF) can be evaluated by direct and indirect tests. In pediatric patients, indirect tests are preferred because of their less invasive character, especially in CF patients with respiratory disease. Fecal tests are noninvasive and have been shown to have a high sensitivity and specificity. However, there is no comparative study in CF patients. Therefore, the aim of the present study was to compare the sensitivity and the specificity of the fecal elastase-1 (E1) test with the fecal chymotrypsin (ChT) test in a large cohort of CF patients and healthy subjects (HS)., Design: One hundred twenty-three CF patients and 105 HS were evaluated. In all subjects, E1 concentration and ChT activity were measured. In the CF group, fecal fat excretion was also determined. The sensitivity and specificity of the fecal E1 test and ChT test were compared., Results: With a cutoff level of 3 U/g, ChT specificity in HS was similar to that of E1, but E1 sensitivity in CF patients was significantly higher (90.2% vs 81.3%). With a cutoff level of 6 U/g, ChT and E1 sensitivity in CF patients was identical, but E1 specificity in HS was again significantly higher (98.1% vs 90.5%). In all CF patients with severe steatorrhea (>15 g/d), E1 concentrations were abnormal and ChT activity was lower than 3 U/g. In contrast, in pancreatic-sufficient patients and patients with mild steatorrhea (< or =15 g/d), the E1 sensitivity was significantly higher compared with ChT (69.2% vs 41.0%)., Conclusions: The fecal E1 test is superior to fecal ChT determination in the assessment of CF pancreatic involvement in pancreatic-sufficient patients and those patients with mild steatorrhea.

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome have been found in the COL2A1 gene, and one mutation causing Stickler syndrome and one causing Marshall syndrome have been detected in the COL11A1 gene. We characterize here the genomic structure of the COL11A1 gene. Screening of patients with Stickler, Stickler-like, or Marshall syndrome pointed to 23 novel mutations. Genotypic-phenotypic comparison revealed an association between the Marshall syndrome phenotype and splicing mutations of 54-bp exons in the C-terminal region of the COL11A1 gene. Null-allele mutations in the COL2A1 gene led to a typical phenotype of Stickler syndrome. Some patients, however, presented with phenotypes of both Marshall and Stickler syndromes.

A new case of 9p- syndrome is presented in a 18 months old girl with typical clinical features of the syndrome: marked delay in psychomotor development, muscle hypotonia, trigonocephaly, up-slanting palpebral fissures, short nose with anteverted nostrils, long philtrum, low-set and hypoplastic auricles and others. Using G- and R- banding, the break point was found on the typical place of the chromosome 9-p22 band. The presented case confirms the earlier finding that clinical recognition of the syndrome is of great importance, since small deletions of the short arm of chromosome 9 can be easily overlooked.