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)

Forty-five patients (25 male and 20 female) over 12 years of age with cystic fibrosis have been studied clinically, radiologically and physiologically. Their mean age at the first visit was 17 years; they were followed for a mean period of 4 years and attended at least every six months. The first symptom which developed before the age of five in 42 of the 45 patients was respiratory. Thirty-two of the 45 patients had severe lung disease (Group III) at the start of the study of the seven patients died during the study. Cough and sputum were almost universal, 23 had haemoptyses and eight pneumothoraces. Staphylococcus pyogenes, Haemophilus influenzae and Pseudomonas aeruginosa were the common pathogens isolated from sputum and the increasing prevalence of the latter was again confirmed. Acquisition of the mucoid strain of pseudomonas signified poor prognosis. Established infection was never eradicated. Forty-three patients had evidence of pancreatic insufficiency; in all but one patient the symptoms were mild and five patients abandoned dietary restriction and pancreatin without ill effect. Seven patients had symptoms of partial bowel obstruction (meconium ileus equivalent) but only one required surgical relief. The liver was enlarged in seven patients and the spleen was felt in three. Three patients had diabetes mellitus. The influence of cystic fibrosis on growth and development is reported--the growth spurt is late in the majority but growth failure is not confined to those with severe lung infection or malabsorption and in these circumstances remains unexplained. Mean weight was low in relation to height and puberty was delayed in both sexes.
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PMID:Cystic fibrosis in adolescents and adults. 82 Oct 91

A previously healthy 50-year old man presented with acute small bowel obstruction. No etiology was found at laparotomy. Postoperatively, the patient remained symptomatic with nausea, vomiting and severe constipation. Gastroscopy revealed retained food in the stomach. Gastric emptying of solids and liquids was dramatically decreased at scintigraphy. The colon was dilated on X-ray study. Chest X-ray revealed a pneumopathy and a small-cell lung cancer was discovered at bronchoscopy. The patient died 5 months after onset. Histologic study of the gut showed widespread degeneration of the myenteric plexus with plasma cell infiltration, Schwann cell proliferation and a reduced number of neurons of which many were abnormal. Intestinal pseudo-obstruction can reveal a small-cell lung cancer; the mechanism of neuronal impairment leading to pseudo-obstruction remains unknown, but could be related to the pathophysiology of paraneoplastic syndromes.
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PMID:Paraneoplastic intestinal pseudo-obstruction as the presenting feature of small-cell lung cancer. 283 68

Cystic fibrosis (CF) is the most common serious genetic condition in the White population groups. Thirty-three White patients (mean age 20 years, range 14-32 years) seen at an adult CF clinic at the Johannesburg Hospital between January 1980 and January 1983 are reviewed. All had elevated sweat chloride levels. There was a family history of CF in 45,5% of the cases. Most were of normal height but significantly underweight. Chronic obstructive pulmonary disease was present in 94% of the patients. Pulmonary infections played a major role in both symptomatic exacerbations and progressive lung disease. Most frequently, mucoid Pseudomonas aeruginosa and/or Staphylococcus aureus were cultured from the sputum. The management of infective exacerbations is discussed. Other respiratory complications included cor pulmonale, haemoptysis, recurrent pneumothorax and sinusitis. Chest radiographs and pulmonary function tests are also analysed. Gastro-intestinal complications included pancreatic exocrine insufficiency (94%), intestinal obstruction, cholelithiasis, and liver disease. Insulin-dependent diabetes occurred in 9%. Five pregnancies were recorded in 4 patients. By January 1983 there had been 7 deaths (mean age 19,4 years). Most of the patients are highly motivated, with few psychological problems, and appear to be well-functioning and integrated members of society.
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PMID:Experience at an adolescent and adult cystic fibrosis clinic. An analysis and overview. 671 Feb 79

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

Nutrition therapy is vital to the overall management of lung transplant recipients. The objective of this review is to outline the current applications of pre- and posttransplant nutrition management of the adult lung transplant recipient. Pretransplant nutrition therapy decisions are based on cause of end-stage lung disease, transplant indications, and pretransplant nutritional status. Maintaining adequate nutrient stores is the major goal of nutrition therapy for patients awaiting transplantation. In the posttransplant course, several gastrointestinal (GI) complications such as gastroesophageal reflux, gastroparesis, and distal intestinal obstruction syndrome complicate nutritional recovery. Long-term nutrition therapy for lung transplant recipients is aimed at management of common comorbid conditions such as obesity, diabetes mellitus, hypertension, osteoporosis, and hyperlipidemia. Lung transplantation outcomes are steadily improving; however, much has yet to be explored to improve the nutrition management of these patients in both the pre- and posttransplantation course.
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PMID:Current nutrition practices in adult lung transplantation. 1621 58

Cystic fibrosis (CF) is caused by a defect in the CF transmembrane conductance regulator (CFTR) protein that functions as a chloride channel. Dysfunction of the CFTR protein results in salty sweat, pancreatic insufficiency, intestinal obstruction, male infertility, and severe pulmonary disease. Most of the morbidity and mortality of CF patients results from pulmonary complications. Differences in susceptibility to bacterial infection and variable degree of CF lung disease among CF patients remain unexplained. Many phenotypic expressions of the disease do not directly correlate with the type of mutation in the Cftr gene. Using a unique CF mouse model that mimics aspects of human CF lung disease, we analyzed the differential gene expression pattern between the normal lungs of wild-type mice (WT) and the affected lungs of CFTR knockout mice (KO). Using microarray analysis followed by quantitation of candidate gene mRNA and protein expression, we identified many interesting genes involved in the development of CF lung disease in mice. These findings point to distinct mechanisms of gene expression regulation between mice with CF and control mice.
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PMID:Distinct pattern of lung gene expression in the Cftr-KO mice developing spontaneous lung disease compared with their littermate controls. 1641 21

D1152H is a type IV cystic fibrosis transmembrane regulator (CFTR) mutation associated with abnormal chloride gating. Although comprising 5-6% of mutations on genetic screening, clinical reports of cystic fibrosis (CF) are rare, suggesting that the disease is mild, atypical, or even absent. We describe our experience, which contrasts with this assumption, in a retrospective case series encompassing 91 CF patients (74 Jewish) aged 8 months to 56 years, from 2000-2005. Nine patients of varied Jewish ethnic origins were homozygous (2 patients) or compound heterozygous for D1152H with 11 of 182 potential alleles (6%). Five were diagnosed at age 33-49 years. Of 4 infants, 1 was diagnosed by prenatal screening, 1 had a prenatal dilated bowel, and 1 had pulmonary symptoms. Sweat chloride was 28-120 meq/l. Three adults had chronic mucoid Pseudomonas aeruginosa in sputum, and a forced expired volume in 1 sec (FEV1) of 20-55%. One was on bilevel positive airway pressure (BIPAP) ventilation. The infants had pulmonary symptoms that responded well to therapy. All 9 patients had good nutrition, 6 were pancreatic-sufficient, and 3 adults had subclinical pancreatic insufficiency. Three adults had recurrent pancreatitis. None had a bowel obstruction. Two of 3 adult males were fertile. Although asymptomatic at times, the D1152H mutation is associated with a broad clinical spectrum. This information is crucial for genetic counseling. Lung disease may be evident from infancy, and is severe in some adults, although all have outlived the median life expectancy of CF. Hopefully, with early diagnosis and therapy, prognosis can be good. A multicenter study of this mutation is warranted.
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PMID:Cystic fibrosis mutations with widely variable phenotype: the D1152H example. 1642 25

We describe the prevalence of H. pylori and toxigenic Clostridium difficile (CD) infection and its relationship with gastrointestinal symptoms and pancreatic sufficiency (PS) or insufficiency (PI) in cystic fibrosis (CF) patients. Stool specimens from 30 consecutive patients with CF, aged 1-44, and from 30 healthy similarly aged subjects were tested for the H. pylori antigen by specific monoclonal antibodies and for CD toxins by Tox A/B assay and Tox A assay. CF patients were assessed clinically and tested for specific H. pylori serum antibodies and for mutations. In CF patients, the prevalence of H. pylori antigen was 16.6% (5/30), compared to 30% (9/30) in controls. Of the 26 CF patients with PI, only 2 (7.6%) were infected by H. pylori, compared with 3 of the 4 (75%) patients with PS (P=0.001). H. pylori infection was diagnosed in 3 of 5 (60%) CF patients carrying mild mutations, compared to 1 of 25 (4%) CF patients carrying severe mutations (P=0.01). Fourteen of 30 (46.6%) stool specimens from CF patients tested positive in the ToxA/B assay, and 3 of 14 tested positive for ToxA. No significant differences in antibiotic use, severity of lung disease, PI, chronic abdominal pain, or genotype were found between the two groups. None of the controls was positive for CD toxins. Prevalence of H. pylori infection in CF patients was lower than in similarly aged non-CF controls. CF patients with PI or a history of distal intestinal obstruction syndrome and those carrying mutations associated with a severe phenotype were protected against H. pylori infection. Almost half of the CF patients were asymptomatic carriers of CD producing mostly toxin B. More studies are needed to confirm our results in a larger group of CF patients.
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PMID:Helicobacter pylori and Clostridium difficile in cystic fibrosis patients. 1707 7

Isolated tuberculosis of gastrointestinal tract is a very rare disease most commonly localized in the ileo-cecal region (over 85% of the cases). The main object of surgical therapy is intraperitoneal tuberculosis (IP-TB), which leads to complications such as bowel obstruction, perforation, fistulation and bleeding. Since gastrointestinal tuberculosis can mimic symptoms found in Crohns' disease and ileocecal cancer, definitive diagnosis can only be obtained by the finding of Mycobacterium tuberculosis in tissue and stool sample as well as by positive microbacterial cultivation. A 35 year old female patient was admitted to surgical ward with clinical and radiological signs of ileus. From personal medical history as well as previous medical documentation we learned that the patient had been treated in 1995 for lung and larynx tuberculosis at Jordanovac Hospital in Zagreb. After preoperative preparation, the patient underwent surgery during which we found numerous stenoses in the region of terminal ileum and cecum. Due to the patient's general condition, surgical treatment was performed in two acts. In the first we established an L-L ileotransverse anastomosis, and in the second we made the resection. The diagnosis was confirmed by histological findings of Mycobaterium tuberculosis in stool and tissue samples as well as in resection material during operation. The early postoperative period proceeded free from complications and after surgical treatment the patient was referred to the Klenovnik Special Hospital for Pulmonary Diseases. On follow up 18 months after the surgery, there were no signs of gastrointestinal involvement.
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PMID:[Gastrointestinal tuberculosis--case report]. 1804 83

Cystic fibrosis (CF) is caused by a defect in the transmembrane conductance regulator (CFTR) protein that functions as a chloride channel. Dysfunction of the CFTR protein results in salty sweat, pancreatic insufficiency, intestinal obstruction, male infertility and severe pulmonary disease. In most patients with CF life expectancy is limited due to a progressive loss of functional lung tissue. Early in life a persistent neutrophylic inflammation can be demonstrated in the airways. The cause of this inflammation, the role of CFTR and the cause of lung morbidity by different CF-specific bacteria, mostly Pseudomonas aeruginosa, are not well understood. The lack of an appropriate animal model with multi-organ pathology having the characteristics of the human form of CF has hampered our understanding of the pathobiology and chronic lung infections of the disease for many years. This review summarizes the main characteristics of CF and focuses on several available animal models that have been frequently used in CF research. A better understanding of the chronic lung infection caused particularly by P. aeruginosa, the pathophysiology of lung inflammation and the pathogenesis of lung disease necessitates animal models to understand CF, and to develop and improve treatment.
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PMID:Animal models of chronic lung infection with Pseudomonas aeruginosa: useful tools for cystic fibrosis studies. 1878 27


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