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

Cystic fibrosis (CF) is a common inherited multisystem disorder characterized by chronic obstruction and infection of airways and by maldigestion secondary to pancreatic insufficiency. The diagnosis is based on the high content of chloride in the sweat (60 mEq/l). CF is inherited as an autosomal recessive trait localized to the long arm of chromosome 7. The CF gene codes for a long 170 kDa protein, the CF transmembrane regulator (CFTR). Up to now, more than 200 mutations have been described. The basis defect is also expressed in the apical membrane of the enterocytes, especially in the secretory cells tentatively localized in the transition zone between villi and crypts. However, the intestinal manifestations of CF are more complex than just the alterations in the CFTR protein responsible for the chloride transport. Therefore, the mechanism of meconium ileus in the fetus and the newborn infant, of the duodenal acidification, of the increased permeability of a number of substances taken up by the paracellular route, of the digestive and absorptive functions of the enterocytes and of the distal intestinal obstruction syndrome is discussed.
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PMID:[The small intestines in patients with mucoviscidosis]. 768 64

Recently we have created a mouse model of cystic fibrosis (CF) by insertional gene targeting to exon 10. In common with CF subjects, this model displays a low incidence of meconium ileus. This contrasts strikingly with the very high level of fatal intestinal obstruction in the three other CF mouse models so far described. We investigate here the molecular basis of this difference in phenotype. We show that the partial duplication consequent upon insertional gene targeting allows exon skipping and aberrant splicing to produce normal Cftr mRNA, but at levels greatly reduced compared with wild-type mice. Furthermore, instead of the predicted mutant Cftr transcript, a novel mRNA is produced that utilizes cryptic splice sites in the disrupting plasmid sequence. However, we have previously shown that these mice display the ion transport defect characteristic of CF, and mutant animals can be distinguished from their normal littermates on this basis. Consistent with this, residual CFTR function has recently been observed for several "mild" mutations in CF individuals who display pancreatic sufficiency but still develop lung disease. We conclude that (i) residual wild-type mRNA in the exon 10 insertional mutant mouse ameliorates the severity of the intestinal phenotype observed in the absolute "null" CF mice, (ii) the presence of low-level residual wild-type Cftr mRNA does not correct the CF ion transport defect, and (iii) the long-term survival of this insertional mutant mouse provides the opportunity to address the factors important in development of lung disease.
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PMID:Long-term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type Cftr gene expression. 794 29

Meconium ileus, rare in Malaysia, accounts for 3.7% of all neonatal intestinal obstructions (excluding imperforate anus) seen in the University Hospital, Kuala Lumpur, from 1980-1990. This paper retrospectively reviews our clinical experience with 5 cases of meconium ileus seen over a 12-year period from 1980-1991 in the University Hospital, Kuala Lumpur. Three of the neonates were Malays, and two were Punjabis. Four of them were full-term and one preterm. The birth weights ranged from 1900 to 3700 g, with a mean of 2670 g. One of them also had a sibling with meconium ileus. Two of them were found to have foetal ascites and one had intestinal obstruction, antenatally by ultrasonography. The remaining two were symptomatic soon after birth. Extensive calcification was observed on plain abdominal radiographs in three babies and dilated bowels in the other two. All of them underwent laparotomy and uncomplicated meconium ileus was confirmed in two cases, meconium peritonitis in two and one meconium pseudocyst in addition to meconium peritonitis. There was one intraoperative death, and one long-term survivor who did not have cystic fibrosis. The remaining three did not have additional features suggestive of cystic fibrosis, and finally succumbed to respiratory infection. Sweat test was not done to confirm the diagnosis for logistic reasons. The management of such patients proved to be a challenge to clinicians because of the rarity of this condition.
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PMID:Meconium ileus--a rare cause of neonatal intestinal obstruction in Malaysia. 800 87

Seven full-term infants with aganglionosis extending into the small bowel presented with clinical, radiological, and operative features of meconium ileus. Misdiagnosis resulted in inappropriate treatment. The correct diagnosis was eventually established by rectal suction biopsy, mostly after either recurrent intestinal obstruction or stomal dysfunction, and after cystic fibrosis had been excluded. For two patients, the results of rectal suction biopsies were initially misleading. Two infants died. Extensive intestinal aganglionosis should be considered a rare possibility in all infants with meconium ileus. In such cases, histological examination of the appendix may avoid this potential pitfall.
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PMID:Meconium ileus due to extensive intestinal aganglionosis. 801 3

We describe three adult patients who had cystic fibrosis and acute abdominal symptoms. In each case there were difficulties in diagnosis and treatment owing to the unfamiliarity of general surgeons with this disease. Successful management will depend on awareness of the entity of acute distal intestinal obstruction which may occur de novo in adult patients with cystic fibrosis.
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PMID:Adult cystic fibrosis and the general surgeon. 801 11

Meconium ileus is a manifestation of intestinal and pancreatic dysfunction that results in the accumulation of a sticky and inspissated intraluminal meconium, which in most cases results from the autosomal recessive disease cystic fibrosis. Both nonoperative and operative therapies are effective in relieving this small-bowel obstruction; in the past, although less so today, a successful nonoperative treatment was associated with a more favorable outcome. Once the meconium ileus is relieved successfully, and the diagnosis of cystic fibrosis is established, the treatment for the intestinal manifestations of the disease focuses on enzyme replacement to augment patient nutritional status. Simultaneously, the treatment of the life-threatening pulmonary disease focuses on mucous retention and chronic infection in the lungs. Future therapies for patients with cystic fibrosis include lung transplantation, pharmacologic manipulation of the epithelial cell abnormality, and gene transfer therapy into the respiratory epithelium.
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PMID:Meconium ileus. 806 91

We describe the radiological and histopathological findings in five children with cystic fibrosis who presented recently to our hospital. Each child underwent surgery after failing to respond to medical management for suspected distal intestinal obstruction syndrome. Four patients had preoperative ultrasound and contrast enema examinations. Wall thickening and dilatation of the ascending colon was seen on ultrasound and contrast enema revealed a stricture of the ascending colon in all four. At surgery these findings were confirmed. All five patients had histopathological changes of post-ischaemic ulceration repair. One child had symptoms of intestinal obstruction 5 months after right hemicolectomy. Radiological investigation revealed a stricture in the descending colon which was resected. The histopathological changes were the same as before. Colonic strictures should be considered in cystic fibrosis patients who do not respond to medical management of distal intestinal obstruction syndrome.
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PMID:Strictures of the colon in cystic fibrosis. 808 42

Pancreatic enzyme extracts have been used for several decades to decrease maldigestion of macro- and micronutrients due to pancreatic insufficiency and to alleviate various abdominal symptoms, including the pain of alcohol-induced chronic pancreatitis and distal intestinal obstruction. Decreasing nutrient maldigestion and malabsorption in pancreatic insufficiency is of additional critical importance because improvement in nutritional status reduces morbidity and mortality. For example, pancreatic sufficient patients with cystic fibrosis (CF) demonstrate a slower decline in pulmonary function. In spite of the recognized importance of pancreatic enzymes, several problems exist with current preparations, and as newer enzyme preparations are marketed, proper evaluation becomes critical. There is a clear need to optimize the constituents of enzyme preparations, improve manufacturing processes, and find better sources of enzymes. Other issues that need addressing include standardization of the ratios of enzymes (lipase, amylase, protease) in these products; the stability of the enzymes at room temperature; the shelf life of the finished product; whether there are significant batch-to-batch differences; and the need for a USP reference standard.
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PMID:Enzyme therapy for pancreatic insufficiency: present status and future needs. 810 63

A case of multiple intestinal atresia is described. Dilatation of the bowel was observed at 17 weeks' gestation during routine ultrasound scan of a healthy Caucasian primigravida from a non-consanguineous marriage. Amniocentesis was performed. The karyotype was normal male and cystic fibrosis screening was negative. Regular scans were performed throughout the pregnancy and a simple bowel obstruction was suspected. The baby was delivered at 37 weeks' gestation in good condition. Initial clinical examination was normal but abdominal distension developed during the first day. At laparotomy, prepyloric septal atresia, a distal duodenal membrane, and multiple intestinal atresia were found. The baby died aged 4 days. Post-mortem examination of the abdomen confirmed the absence of lumen from long segments of the small intestine together with areas of colonic atresia. Histology and distribution were consistent with those reported in familial multiple intestinal atresia. The pitfalls in the interpretation of prenatal ultrasound scans and the possibility of prenatal diagnosis in future pregnancies are discussed.
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PMID:Hereditary multiple intestinal atresia--ultrasound findings and outcome of pregnancy in an affected case. 818 38

The pathophysiological significance of fetal echogenic gut (FEG) is unknown. Our aim was prospectively to evaluate FEG in infants with intrauterine growth retardation (IUGR) and absent umbilical artery end diastolic flow velocities. Over a 15 month period, nine infants with FEG met these criteria. Nine infants who, on antenatal assessment, had demonstrated IURG and absent umbilical artery end diastolic flow velocities, but no evidence of FEG, were selected as case-controls. Gastrointestinal function was then prospectively evaluated in both groups after delivery. All liveborn infants received nasogastric feeds of breast milk by 8 days of age. All in the FEG group developed marked abdominal distension, large, bile stained, nasogastric aspirates, and constipation requiring rectal washouts. This led to a discontinuation of enteral feeds on one or more occasions. Two patients in the FEG group required water soluble contrast enemas in order to relieve intestinal obstruction. In the control group, 3/9 patients had abdominal distension, but no rectal washouts were given and enteral feeds were not interrupted. The median (range) time to tolerate full enteral feeds was 15 (7-32) days in the FEG group, compared with 4 (1-8) days in the control group. In the FEG group 5/6 patients required parenteral nutrition for 5-27 days. In the control group one patient required parenteral nutrition over a period of four days only. No child had necrotising enterocolitis or cystic fibrosis. When FEG is observed in the fetus with IUGR, problems with enteral feeding should be anticipated.
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PMID:Fetal echogenic gut: a marker of intrauterine gut ischaemia? 828 55


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