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At least 595 records · Page 33Linked to original sources
PubMed1976

Hemolytic anemia and edema as the initial signs in infants with cystic fibrosis. Consider this diagnosis even in absence of pulmonary symptoms.

This is a report of five infants eventually proven to have cystic fibrosis of the pancreas, who presented with hemolytic anemia and edema. Since the sweat test is often unreliable in edematous states, the possibility of cystic fibrosis should be considered. Use of either a protein hydrolysate or addition of pancreatic enzymes will improve nutritional status, and when edema disappears, a definite sweat test can be performed. Evidence of vitamin E deficiency in some of the cases is presented, and the possibility of this as a cause of anemia is raised.

Anemia, Hemolytic↗
PubMed2003

Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.

BACKGROUND AND AIMS: We tested the hypothesis that the actual or predicted consequences of mutations in the cystic fibrosis transmembrane regulator gene correlate with the pancreatic phenotype and with measures of quantitative exocrine pancreatic function. METHODS: We assessed 742 patients with cystic fibrosis for whom genotype and clinical data were available. At diagnosis, 610 were pancreatic insufficient, 110 were pancreatic sufficient, and 22 pancreatic sufficient patients progressed to pancreatic insufficiency after diagnosis. RESULTS: We identified mutations on both alleles in 633 patients (85.3%), on one allele in 95 (12.8%), and on neither allele in 14 (1.9%). Seventy six different mutations were identified. The most common mutation was DeltaF508 (71.3%) followed by G551D (2.9%), G542X (2.3%), 621+1G-->T (1.2%), and W1282X (1.2%). Patients were categorized into five classes according to the predicted functional consequences of each mutation. Over 95% of patients with severe class I, II, and III mutations were pancreatic insufficient or progressed to pancreatic insufficiency. In contrast, patients with mild class IV and V mutations were consistently pancreatic sufficient. In all but four cases each genotype correlated exclusively with the pancreatic phenotype. Quantitative data of acinar and ductular secretion were available in 93 patients. Patients with mutations belonging to classes I, II, and III had greatly reduced acinar and ductular function compared with those with class IV or V mutations. CONCLUSION: The predicted or known functional consequences of specific mutant alleles correlate with the severity of pancreatic disease in cystic fibrosis.

Child↗
PubMed1988

Cultured epithelial cells derived from human foetal pancreas as a model for the study of cystic fibrosis: further analyses on the origins and nature of the cell types.

The establishment of a tissue-culture system for epithelial cells derived from human foetal pancreas has recently been reported. Further analyses have now been made on these cells in vitro, together with parallel investigation of the distribution of different cell types within the intact foetal pancreas. Results support the view that the cultured cells are ductal in origin and nature. Pancreatic epithelial cell cultures have also been established from foetuses with cystic fibrosis.

Cells, Cultured↗
PubMed1977

Nasal polyps in cystic fibrosis.

In II polyps from patients with cystic fibrosis of the pancreas, the density, shape, and architecture of mucous glands were studied by the whole-mount method and compared with 102 non-cystic-fibrosis polyps. There were no differences in density which was in most polyps less than 0.5 gland/mm.2. The shape and architecture as well as other histological appearances of the polyp were also alike in both groups of polyps which could not be distinguished. The pathogenesis of nasal polyps in cystic fibrosis is discussed. Apparently, it is the same as that of non-cystic-fibrosis polyps.

Child↗
PubMed1991

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.

Three mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene were discovered in a pancreas-insufficient patient with cystic fibrosis (CF) who displayed an uncommon combination of almost normal chloride concentration in sweat tests and typical symptoms of gastrointestinal and pulmonary disease. The R553Q mutation was found on the maternal delta F508-CFTR gene. Codon 553 is located within a consensus motif of the ATP-binding cassette transport proteins at a less conserved position. Other members of this protein superfamily contain a glutamine instead of arginine at the homologous position, suggesting a modulating rather than disease-causing role of the R553Q mutation in CFTR. The amplification refractory mutation system did not detect the R553Q mutation in a further 65 normal, 113 delta F508, and 91 non-delta F508 CF chromosomes. The index case carried the R553X nonsense mutation on the paternal chromosome. The R553X mutation was present on a further 9 out of 86 German non-delta F508 CF chromosomes linked with the XV2c-KM19-Mp6d9-J44-GATT haplotypes 2-2-2-1-1 and 1-1-2-1-2. The location of R553X on separate haplotypes including both alleles of the intragenic GATT repeat suggests an ancient and/or multiple origins of the R553X mutations. The association of the genotype of the CFTR mutation and the clinical phenotype was assessed for the patients carrying the related genotypes delta F508/delta F508 (n = 80), delta F508/R553X (n = 9) and delta F508-R553Q/R553X (n = 1). In compound heterozygotes, the median chloride concentration in pilocarpine iontophoresis sweat tests was significantly lower than in the delta F508 homozygotes (P less than 0.01). The patient groups were significantly different with respect to the distributions of the centiles for height (P less than 0.001) and weight (P less than 0.01) as the most sensitive predictors of the course and prognosis in CF. Growth retardation was more pronounced in the compound heterozygotes.

Amino Acid Sequence↗
PubMed1999

Cystic fibrosis in adolescents and adults: fatty replacement of the pancreas--CT evaluation and functional correlation.

PURPOSE: To compare the computed tomographic (CT) features of pancreatic fatty replacement in adolescents and adults with cystic fibrosis (CF) with those in control subjects and to correlate the degree of fatty replacement with the functional status of the pancreas. MATERIALS AND METHODS: CT scans in 15 patients with CF (group 1) and in 15 control subjects without CF (group 2) were evaluated for thickness and degree of pancreatic fatty replacement. Thickness was measured at four anatomic levels. The pattern of pancreatic fatty replacement was visually evaluated in four pancreatic regions. Images were semiquantitatively analyzed by two readers. The degree of fatty replacement was correlated with the functional status of the pancreas. RESULTS: In group 1, pancreatic glandular tissue was significantly thinner (P < .001) and the degree of fatty replacement was significantly greater in the four regions (P < .001) than those in group 2. In Group 1, no relationship was found between the degree of pancreatic fatty replacement and that of pancreatic endocrine dysfunction. A significant relationship was found between the degree of fatty replacement and that of pancreatic exocrine dysfunction (P < .001). CONCLUSION: In patients with CF, pancreatic glandular tissue is significantly reduced in size. Pancreatic fatty replacement is the most frequent pattern in older patients with CF and correlates with pancreatic exocrine dysfunction.

Adipose Tissue↗
PubMed1975

Sources of the serum isoamylases and their normal range of variation with age.

The isoamylases in various human tissue homogenates and body fluids were separated by agarose gel electrophoresis. Nothing suggested any significant production of amylase in the liver. Minute amounts of amylase belonging to the pancreatic group of isoamylases might be produced by the glands of the proximal duodenum. The specific group of isoamylases produced in the female genital tract could not be demonstrated in serum or urine. The activity of amylase in serum was derived from two groups of isoenzymes, one group originating from the salivary glands, the other from the pancreatic gland. The contribution of each of these two sources to the total serum amylase was determined from early foetal life to adult age. A very low activity of the salivary isoamylases was regularly found in serum from 14-week-old foetuses. The activity increased steadily with age and reached the normal adult level, about 80 U/l, at the age of 5 years. The pancreatic group of isoamylases in serum developed later; the majority of children below 3 months had no demonstrable pancreatic isoamylase activity. The activity rose slowly to reach adult level, about 80 U/l, at the age of 10 to 15 years. The activity did not vary with sex, and the diurnal variation of the isoamylase was negligible. In children with cystic fibrosis of the pancreas the activity of pancreatic isoamylases in serum was low.

Adolescent↗
PubMed1975

Electrophoretic separation, detection, and variation of amylase isoenzymes.

An electrophoretic technique for demonstrating amylase isoenzymes is described. After separation in an agarose gel containing a linear polyacrylamide polymer to reduce electroendosmotic flow, the amylase fractions are visualized by incubation with a commercially available dye-starch polymer (Phadebas Amylase Test). The technique detects amylase fractions with activities below 10 U/l. Some characteristic changes in such diseases as acute and chronic pancreatitis, cystic fibrosis of the pancreas, macroamylasemia and inherited variants as well as after maxillofacial surgery are mentioned.

Acute Disease↗