Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Six subjects receiving digoxin therapy for heart disease were studied on two occasions with a single oral dose of 0.5 mg of tritiated digoxin. In every study, all stools and urine were saved for 1 week. Before the second study, treatment with cholestyramine, 4 g every 6 hours, was begun and continued throughout. In three patients, a third study was performed after cholestyramine treatment had been continued for 1 month. Results showed that after cholestyramine administration serum levels, stool output and urinary output of tritiated digoxin varied over a wider range, but cholestyramine had no net short-term effect of any of these variables. After 1 month of cholestyramine administration, there was a small statistically significant increase in stool output of tritiated digoxin and metabolites. In vitro studies suggested that cholestyramine is likely to be a weak digoxin binder in the gut and that changes induced by this resin in digoxin metabolism are not likely to be due to drug binding.
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PMID:Effect of cholestyramine on digoxin absorption and excretion in man. 83 78

Decreased serum albumin levels are commonly observed in patients with carcinoid tumor, who also show several characteristic clinical and biochemical abnormalities. A large comparative study on a group of 96 carcinoid patients was performed with the purpose of identifying some of the mechanisms leading to hypoalbuminemia in patients with this form of cancer, and thereby to shed light on the cause of hypoalbuminemia of cancer in general. Serum albumin values were compared with a number of clinical parameters (including extent of liver metastases, severity of diarrhea, degree of right heart failure, and extent of gastrointestinal surgery) and of laboratory data (prothrombin time, BSP retention, serum transferrin concentration, hematocrit value, and daily urine excretion of 5-hydroxy-indoleacetic acid). In several patients the gastrointestinal protein loss was assessed by the 51Cr-albumin technique, whereas albumin renewal and distribution were evaluated by the use of 125I-albumin. The data obtained showed that the main factors in determining decreased serum albumin levels in patients with carcinoids are both reduced synthesis and increased loss of the protein. The hepatic synthetic defect appears to be related to a progressive decrease in the number of functioning liver cells; the origin of the gastrointestinal protein loss may be related to the obvious tumor involvement of the gut wall, as well as to the pharmacologically-induced diarrhea. Right heart failure occurring as a result of the carcinoid heart disease may be an additional cause for gastrointestinal protein loss in patients with carcinoid tumor.
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PMID:Pathophysiology of hypoalbuminemia associated with carcinoid tumor. 97 3

Percutaneous endoscopic gastrostomy (PEG) is used to provide nutrition for patients who are unable to eat but have a functionally intact gut. Clinical guidelines for PEG are uncertain and have been derived mainly from referral practices. We performed a population-based cohort study in 97 residents of Olmsted County, Minnesota, referred for PEG between January 1982 and December 1988 to determine complications, duration of tube feeding, and survival. Follow-up continued until death or February 1990. Inpatient and outpatient records were reviewed to determine indications, comorbid conditions, level of consciousness, and limitations in activities of daily living. Outcomes determined after referral for PEG included type and number of complications, tube removal, and survival. Statistical methods used included Kaplan-Meier and proportional hazards regression analyses. PEG placement was successful in 94% of patients. Although complications occurred in 70% of patients, they usually were minor (88%) and most occurred within 3 months. In 24 patients, tubes were removed because eating was resumed. The probability of surviving 30 days, 1.5 years, and 4 years after referral for PEG was 78%, 35%, and 27%, respectively. The major causes of death within and after 30 days were pneumonia, heart disease, and vascular disease of the central nervous system. An increased risk of death after referral for PEG placement was associated with older age, male gender, diabetes, and specific indications for PEG. If validated in other population-based studies, these predictors of survival after referral for PEG placement could be used to identify patients with a low probability of survival who may not benefit from PEG.
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PMID:Predictors of outcome after percutaneous endoscopic gastrostomy: a community-based study. 143 74

Down syndrome (DS) is a major cause of congenital heart and gut disease and mental retardation. DS individuals also have characteristic facies, hands, and dermatoglyphics, in addition to abnormalities of the immune system, an increased risk of leukemia, and an Alzheimer-like dementia. Although their molecular basis is unknown, recent work on patients with DS and partial duplications of chromosome 21 has suggested small chromosomal regions located in band q22 that are likely to contain the genes for some of these features. We now extend these analyses to define molecular markers for the congenital heart disease, the duodenal stenosis, and an "overlap" region for the facial and some of the skeletal features. We report the clinical, cytogenetic, and molecular analysis of two patients. The first is DUP21JS, who carries both a partial duplication of chromosome 21, including the region 21q21.1-q22.13, or proximal q22.2, and DS features including duodenal stenosis. Using quantitative Southern blot dosage analysis and 15 DNA sequences unique to chromosome 21, we have defined the molecular extent of the duplication. This includes the region defined by DNA sequences for APP (amyloid precursor protein), SOD1 (CuZn superoxide dismutase), D21S47, SF57, D21S17, D21S55, D21S3, and D21S15 and excludes the regions defined by DNA sequences for D21S16, D21S46, D21S1, D21S19, BCE I (breast cancer estrogen-inducible gene), D21S39, and D21S44. Using similar techniques, we have also defined the region duplicated in the second case occurring in a family carrying a translocation associated with DS and congenital heart disease. This region includes DNA sequences for D21S55 and D21S3 and excludes DNA sequences for D21S47 and D21S17.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. 153 Nov 66

We report the case of a patient with recurrent subocclusive episodes and diarrhea (no malabsorption) associated with ascites, in the absence or liver, kidney or heart disease. The demonstration of hypereosinophilia in the peripheral blood and in the ascites fluid and the failure to identify parasitic or haematological disorders have led to a through examination of the stomach (Endoscopy, Echoendoscopy), small bowel (X-rays and Computerized Axial Tomography) and colon (colonoscopy) in a search for parietal lesions. The absence of segmental lesions and the observation of CAT images of diffuse, regular thickening of the ileum and of the mesentery, coupled with the monotonous clinical history spanning over three decades, have led to a diagnosis of eosinophilic gastroenteritis with involvement of the serosal layer. Serosal involvement is rare in eosinophilic disease of the gut; in analogy with other cases reported in the literature, steroids have improved clinical symptoms and normalized the hematological picture.
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PMID:[Eosinophilic gastroenteritis and ascites. Clinical case]. 174 98

Studies in "lower" organisms have identified a set of homologous sequences expressed in oocytes and early embryos that is critical for pattern formation. Mutations in such genes may exhibit maternal effect--they cause abnormalities in the fetus only when present in the mother. We report on a mother and child with identical, apparently balanced translocations having the breakpoints 12q13.1 and 13p13. The fetus had multiple anomalies including bilateral trilobar lungs, complex heart defect, malrotation of the gut, and asplenia, while the mother was entirely normal. Several hypotheses are advanced to explain this variable expression including transection of a gene with maternal effect--lateral asymmetry in the fetus is influenced by the maternal genotype. This explanation would account for the higher transmission of congenital heart disease to offspring by affected females noted in several studies. The human counterparts of 2 loci (int-1 and HOX 3) involved in Drosophila early pattern formation are located near the translocation breakpoint 12q13.1. If one of these genes is responsible for situs abnormality, then university of positional code (but not of embryologic mechanism) is suggested for higher metazoans.
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PMID:Balanced translocation 12/13 and situs abnormalities: homology of early pattern formation in man and lower organisms? 145 1

Plasma atrial natriuretic peptide (ANP) concentration was determined and cardiac ultrasound studies were performed in 50 patients with malignant mid-gut carcinoid tumors. The extent of carcinoid-related heart disease varied among the patients. The patients with the most severe right-sided heart disease, who often had signs of right ventricular failure, had significantly (p less than 0.001) higher plasma ANP concentrations than either patients with less or no abnormal ultrasound findings or age- and sex-matched healthy control subjects. ANP levels were serially determined for 0.5 to 4 years (median 2.1) in 12 patients. The levels increased above the reference range in patients with clinical findings of right ventricular failure. In patients without cardiac decompensation the levels remained within the reference range. In 3 patients who had successful tricuspid and pulmonary valve replacements, signs and symptoms of right ventricular failure disappeared and plasma ANP levels declined and normalized. Five patients with progressive right ventricular failure and increasing plasma ANP levels during follow-up eventually died from cardiac decompensation. This study demonstrates the predictive value of serial determinations of plasma ANP in carcinoid heart disease. Such measurements can be an additional guide in the clinical management of these patients.
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PMID:Plasma atrial natriuretic peptide in carcinoid heart disease. 252 30

The authors describe a case of xiphoomphalpagus; one infant was dead, the other alive. They had a common umbilical cord and omphalocele, joined liver, only one gallbladder and common duodenum in the shape of a wide sac. From this originated two thin guts, one was wide and belonged to the dead foetus, the gut of the live foetus beneath the duodenum was atretic. Already six hours after delivery the authors separated the infants and in the live infant they not only resected the liver and reinserted the choledochus but also repaired the wide duodenum and atresia. The second infant died on the 4th day after operation from congenital heart disease incompatible with life. The stillborn infant has, as revealed by necropsy and histological examination, a congenital megacolon. The authors analyze the scope of diagnostic and surgical possibilities.
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PMID:[Xipho-omphalopagus--Siamese twins with multiple abnormalities of the gastrointestinal tract]. 281 4

Congenital heart disease consists of cardiac anomalies that originated before or during the truncus arteriosus stage. The central nervous system, serving all organs, is the first to develop. It is the only organ possessing a third circulation. Immediately after the neural tube closes at the fourth week, its lining of immature ependymal cells secretes a proteinaceous neural tube fluid (NTF) at a pressure higher than the amniotic pressure. The resulting distention helps to shape not only the embryonic brain and spinal cord but also the bordering mesodermal cells that later will form vertebrae. The choroid plexus does not begin to secrete true cerebrospinal fluid until two weeks later. Should hypersecretion occur during this critical two week interval, the neural tube will overdistend and allow NTF to infiltrate into mesoderm (Fig. 1). Here, this fluid with its extraneous protein, may damage cells that are destined to form the anlagen of mesodermal organs such as the heart. It may also damage the primitive gut resulting in pulmonary, gastrointestinal and genitourinary anomalies. The most convincing evidence that the neural tube had been overdistended is the combination of anterior and posterior spina bifida that constitutes bilateral hemivertebrae. Vertebral anomalies are present in congenital heart disease though scarcely recognizable on the chest film of the newborn.
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PMID:Overdistention of the neural tube causes congenital heart disease. 702 89

An infant was found to have the previously known manifestations of the Kaufman syndrome (hydrometrocolpos, postaxial polydactyly, and congenital heart disease) but also imperforate anus, malrotation of gut, congenital hip dislocation, and urogenital sinus. All of these anomalies have been separately reported in other cases of the syndrome. Three previously unreported problems present in this case were choanal atresia, pituitary dysplasia, and vertebral anomalies; these may well be component manifestations of the syndrome and not sporadic occurrences in our patient. Of particular clinical importance were the hypoglucocorticism and the hypoglucocorticism secondary to the pituitary dysplasia.
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PMID:Kaufman syndrome (hydrometrocolpos, polydactyly, and congenital heart disease) with pituitary dysplasia, choanal atresia, and vertebral anomalies. 724 10


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