Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021843 (bowel obstruction)
 9,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Intraluminal bowel obstruction secondary to inspissated feces is a known complication of cystic fibrosis. When seen in the older child, it is termed "meconium ileus equivalent." We studied a case in which nonsurgical resolution of the obstruction was obtained with N-acetylcysteine enemas and pancreatic replacement enzymes given orally and by enema. The pathogenesis of this disorder and the basis for the treatment are described. Recognition of this complication and familiarity with its medical management are important in caring for the older child with cystic fibrosis.
 ...
PMID:Nonoperative treatment of meconium ileus equivalent. 119 Jan 45

Cystic fibrosis (CF) is the most frequent inheritable disease with a lethal course. One of the major problems of the disease is malabsorption and malnutrition, due to pancreatic insufficiency which is already present at birth in more than 85% of the patients. Characteristically the mucoid secretion products of the epithelial tissues in lung, pancreas, liver and intestine have a high viscosity. The pathophysiology is characterized by obstruction of these organs with secondary damage and finally destruction. For a long period intestinal obstruction syndromes in CF were ascribed only to the pancreatic insufficiency. Malabsorption is not only caused by enzyme deficiency but is also related to transport processes to the surface of the enterocytes. This indicates that the intestinal disorders in CF are partly the result of mucoid plugging and not only of pancreatic insufficiency. Recently in vitro studies have shown a blockade of secretion through chloride channels in the mucosal membrane of CF tissues. In vivo measurements of chloride fluxes in the rectum showed a disturbed regulation in CF patients. The high viscosity of the mucus and plugging is directly related to the diminished chloride secretion. So it is postulated that the abnormal chloride secretion is responsible for the intestinal obstruction and partially also for the malabsorption.
 ...
PMID:Relationship between intestinal function and chloride secretion in patients with cystic fibrosis. 128 10

Cystic fibrosis results from defects in the gene encoding a cyclic adenosine monophosphate-dependent chloride ion channel known as the cystic fibrosis transmembrane conductance regulator (CFTR). To create an animal model for cystic fibrosis, mice were generated from embryonic stem cells in which the CFTR gene was disrupted by gene targeting. Mice homozygous for the disrupted gene display many features common to young human cystic fibrosis patients, including failure to thrive, meconium ileus, alteration of mucous and serous glands, and obstruction of glandlike structures with inspissated eosinophilic material. Death resulting from intestinal obstruction usually occurs before 40 days of age.
 ...
PMID:An animal model for cystic fibrosis made by gene targeting. 138 Jul 23

In a cystic fibrosis (CF) patient a right lower quadrant (RLQ) mass may be a difficult diagnostic problem. Most frequently it is due to a distal intestinal obstruction syndrome also called meconium ileus equivalent, but the possibility of intussusception and appendiceal abscess should also be considered. We describe three CF patients with an appendiceal abscess seen in a 4-year period. All three patients had a palpable RLQ mass. Chronicity and obliteration of the appendiceal lumen with abnormally viscid mucus may lead to concealed perforation and be responsible for the atypical presentation.
 ...
PMID:A right lower quadrant mass in cystic fibrosis: a diagnostic challenge. 139 84

An individual who has cystic fibrosis (CF) may suffer from gastrointestinal problems related to inadequately controlled intestinal absorption secondary to the pancreatic insufficiency. These include neonatal meconium ileus, distal intestinal obstruction syndrome (DIOS), constipation and acquired megacolon, rectal prolapse and rarely pancreatitis. If the intestinal malabsorption is well controlled with an effective pancreatic enzyme preparation, DIOS, constipation and rectal prolapse are infrequent. Persisting gastrointestinal symptoms should be investigated thoroughly to exclude other disorders not directly related to the cystic fibrosis; these include cows' milk intolerance, coeliac disease, giardiasis, Crohn's disease and intra-abdominal malignancy. Both appendicitis and intussusception may cause difficult diagnostic problems particularly in patients who may also have distal ileal obstruction syndrome.
 ...
PMID:Cystic fibrosis: gastrointestinal complications. 145 4

Meconium peritonitis is a chemical peritonitis usually resulting from antenatal bowel rupture. Prenatal ultrasound findings include ascites, intraabdominal masses, bowel dilatation and the development of intraabdominal calcifications [1-5]. The most common bowel disorders which lead to meconium peritonitis in utero are those resulting in bowel obstruction and perforation, such as small bowel atresias, volvulus and meconium ileus [1-5]. Meconium ileus is associated with cystic fibrosis in most cases, although extraluminal abdominal calcifications are usually scarce in cases of cystic fibrosis [1, 6]. Postnatal outcome for infants with meconium peritonitis depends on the etiology for bowel rupture and underlying disease.
 ...
PMID:Fetal meconium peritonitis without sequelae. 152 51

The authors reviewed the ultrasonographic images and medical records of 15 consecutive fetuses with dilated loops of bowel distal to the duodenum and determined the prevalence of cystic fibrosis among them. The criteria for dilated bowel loops included both subjective criteria and luminal measurements. Five of the fetuses (33%) had cystic fibrosis. Eleven had bowel obstruction at birth, and four of those 11 (36%) also had cystic fibrosis. One of the four fetuses without bowel obstruction at birth had cystic fibrosis. There were no differences in sonographic findings between fetuses with and without cystic fibrosis, except that one third-trimester fetus with cystic fibrosis had echogenic small bowel with shadowing. All of the fetuses with dilated bowel loops persisting at birth required surgery. Further studies are indicated to determine the exact risk of cystic fibrosis in this population.
 ...
PMID:Prevalence of cystic fibrosis in fetuses with dilated bowel. 158 18

Abnormal epithelial electrolyte transport has been identified in a range of cystic fibrosis (CF) organs and appears to account for the various clinical manifestations of the disease. The aim of this study was to further define the Cl- secretion defect in CF jejunum. Excised jejunum was obtained from 11 CF patients and 12 controls. Transport studies were performed on stripped epithelium in vitro under short-circuited conditions in Ussing Chambers. 3-Isobutyl-1-methylxanthine (IBMX) (300 microM) significantly increased Cl- secretion in control (-2.3 +/- 0.6 to -3.3 +/- 0.7 mueq.cm-2.h-1; P less than 0.01, paired t test; n = 5 subjects) but not in CF jejunum (-0.5 +/- 0.3 to -0.1 +/- 0.4; n = 4). However in contrast to control jejunum, net Na+ absorption in CF jejunum was higher in the IBMX (1.3 +/- 0.5 mueq.cm-2.h-1) compared with basal periods (0.6 +/- 0.3; P less than 0.05, paired t test). IBMX stimulation of tissue adenosine 3',5'-cyclic monophosphate (cAMP) was similar in both control and CF jejunum. A range of secretagogues known to induce secretion in mammalian intestine, including dibutyryl cAMP (DBcAMP), DBcGMP, Ca2+ ionophore A23187, and the protein kinase C activator 4 beta-phorbol 12,13-dibutyrate, failed to induce secretion in CF jejunum. In conclusion, CF jejunum failed to exhibit Cl- secretion and also demonstrated abnormalities of Na+ absorption. These results support the view that the defect lies at a site distal to the intracellular messengers. Moreover, these abnormalities of intestinal electrolyte transport may account for some of the gastrointestinal manifestations of the disease such as meconium ileus and distal intestinal obstruction syndrome.
 ...
PMID:Abnormal epithelial transport in cystic fibrosis jejunum. 170 89

Prenatal diagnosis of cystic fibrosis based on amniotic fluid microvillar enzyme activity assay has become routine practice in the past few years. Normal (median) values of these enzymes were determined in 177 normal healthy pregnancies between 15-20 gestational weeks and were related to enzyme values measured in 50 pregnancies complicated with congenital malformations, 6 monogenic inherited diseases and 4 chromosomal aberrations. It is concluded that increased trehalase activity has diagnostic importance in detecting fetal kidney diseases, and radial-renal syndrome (with elevated GGT activity), while low enzyme activities may indicate chromosomal aberrations (with no signs of intestinal obstruction). With the collection of further data, the analysis of these enzymes might provide an opportunity to set up diagnostic procedures for the detection of other, non-CF-related cases.
 ...
PMID:Amniotic fluid microvillar enzyme activity in fetal malformations. 198 Aug 62

Appendicitis is said to be uncommon and difficult to diagnose in cystic fibrosis. The clinical and radiological features in nine patients with cystic fibrosis who had appendicitis were studied. All but one of the patients had an appendiceal abscess at surgery. Four patients had a delay in diagnosis of greater than three days before the correct diagnosis was made. This delay may have been due to a more indolent presentation or because these patients were initially considered to have distal intestinal obstruction syndrome. Appendicitis should be considered in the differential diagnosis if a contrast enema demonstrates extrinsic compression of the caecum. Ultrasound, computed tomography, and gallium scans were found to be of limited help in our series.
 ...
PMID:Appendicitis in cystic fibrosis. 202 6


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>