Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Many genetic diseases shorten the lives of people who have them. Hence, it makes sense to speak of years of life lost due to cystic fibrosis or sickle-cell anemia or numerous other genetic disorders. In conventional practice, years of life lost is calculated for causes of death only, but a genetic disease is better understood as a risk-altering state or condition: it acts not at the time of death only but from birth onwards. Therefore, we must reformulate the concept of years of life lost before applying it to genetic conditions. This has already been done for congenital genetic diseases. This paper extends the reformulation to diseases with delayed onset. Huntington disease (HD) is used as an example.
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PMID:Years of life lost due to Huntington disease. 16 Jan 99

The role of vitamin E in human nutrition was studied by investigation of patients with cystic fibrosis (CF) and associated pancreatic insufficiency. Vitamin E status was assessed by measurement of the plasma concentration of the principal circulating isomer, alpha-tocopherol. Results of such determinations in 52 CF patients with pancreatogenic steatorrhea revealed that all were deficient in the vitamin. The extent of decreased plasma tocopherol varied markedly but correlated with indices of intestinal malabsorption, such as the serum carotene concentration and percentage of dietary fat absorbed. Supplementation with 5-10 times the recommended daily allowance of vitamin E in a water-miscible form increased the plasma alpha-tocopherol concentrations to normal in all 19 CF patients so evaluated. Studies on the effects of vitamin E deficiency focused on possible hematologic alterations. An improved technique was developed to measure erythrocyte hemolysis in vitro in the presence of hydrogen peroxide. While erythrocyte suspensions from control subjects demonstrated resistance to hemolysis during a 3-h incubation, all samples from tocopherol-deficient CF patients showed abnormal oxidant susceptibility, evidenced by greater than 5% hemoglobin release. The degree of peroxide-induced hemolysis was related to the plasma alpha-tocopherol concentration in an inverse, sigmoidal manner. The possibility of in vivo hemolysis was assessed by measuring the survival of (51)Cr-labeled erythrocytes in 19 vitamin-E deficient patients. A moderate but statistically significant decrease in the mean (51)Cr erythrocyte half-life value was found in this group. Measurement of erythrocyte survival before and after supplementation of 6 patients with vitamin E demonstrated that the shortened erythrocyte lifespan could be corrected to normal with this treatment. Other hematologic indices in deficient subjects, however, were normal and did not change upon supplementation with vitamin E. It is concluded that CF is invariably associated with vitamin E deficiency, provided that the patient in question has pancreatic achylia and is not taking supplementary doses of tocopherol. Concomitant hematologic effects consistent with mild hemolysis, but not anemia, occur and may be reversed with vitamin E therapy. Patients with CF should be given daily doses of a water-miscible form of vitamin E to correct the deficiency.
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PMID:The occurrence and effects of human vitamin E deficiency. A study in patients with cystic fibrosis. 87 86

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.
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PMID:Hemolytic anemia and edema as the initial signs in infants with cystic fibrosis. Consider this diagnosis even in absence of pulmonary symptoms. 127 93

The authors present a case of cystic fibrosis in a 3 months old infant. Clinically, the first manifestation was a severe anemia secondary to iron deperdition through a hemorrhage due to an acquired trouble of thrombin formation. The late was explained by the vitamin K malabsorption and by the hepatocellular insufficiency.
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PMID:[The diagnostic difficulties in a case of a hemorrhagic syndrome in an infant]. 133 78

Screening for genetic abnormalities is an integral part of obstetrics. Prior to initiating screening, however, several prerequisites must be met: (i) capacity to alter clinical management, (ii) cost effectiveness, (iii) reliable means (usually assays) of assessment, and (iv) capacity to handle problems. In all pregnancies one should determine in systematic fashion whether family history places a pregnant woman at increased risk over the background risk of 2-3% congenital anomalies. All women over age 35 years at delivery should be offered prenatal cytogenetic testing, and women of all ages should be offered maternal serum alpha-fetoprotein screening for neural tube defects. Screening ostensibly normal populations is appropriate in certain ethnic groups to determine heterozygosity for selected disorders: Blacks for sickle-cell anaemia, Mediterranean people for beta-thalassaemia, Southeast Asians and Filipinos for alpha-thalassaemia, Ashkenazi Jews and perhaps French-Canadians for Tay-Sachs disease. Cystic fibrosis screening (delta F508 mutations) is not currently recommended for the general populations, but should be offered to relatives of an individual having delta F508 cystic fibrosis. Irrespective of the extent of screening programmes for Mendelian traits, the mutant allele will remain in the general population because by far the greatest genetic load lies in clinically normal heterozygotes, affected contributing far less to the load despite the obvious clinical effect.
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PMID:Screening for fetal and genetic abnormalities. 172 71

We have developed a sensitive technique for detecting single base substitutions in polymerase chain reaction (PCR) products from individuals heterozygous for polymorphisms or new mutations. This technique takes advantage of the formation of heteroduplexes in the PCR between different alleles from heterozygous individuals. These heteroduplexes can be detected on polyacrylamide gels because they migrate slower than their corresponding homoduplexes. Using PCR, we have generated a series of point mutations in a defined region of DNA in the equine infectious anemia virus (EIAV). Each mutation is the result of a single base substitution. By mixing the PCR products amplified from these mutations with one another, as well as with wildtype PCR products, we can generate heteroduplexes in which the identity of the mismatched bases is known. We detected eight of nine point mutations using this technique. We have also modified the electrophoretic conditions to optimize the detection of these heteroduplexes. In addition, the usefulness of this technique is demonstrated by its ability to detect a mutation in the cystic fibrosis gene that is the result of a single base substitution. This technique should prove useful for rapidly screening large numbers of individuals for new mutations or polymorphisms.
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PMID:Detecting single base substitutions as heteroduplex polymorphisms. 174 Mar 39

With a normal and varied food intake, the vitamin supply is often sufficient to avoid vitamin deficiency. Since synthetic vitamins have become available, it has become possible to take with one dose the amount of vitamins normally taken up from food in one year. In these pharmacological doses vitamins must therefore be considered as drugs. And in pharmacological doses, their actions are often different and not directly linked to their physiological activity. Two types of pathologic state are unquestionably the concern of vitaminotherapy: More or less specific and intense vitamin deficiencies: Rickets, scurvy, beri beri, pellagra, vitamin deficiency related to alcohol consumption, polyneuritis, encephalopathy, malabsorption, mucoviscidosis, etc. Genetic defects of vitamin metabolism: Prescriptions for these cases represent only a tiny part of the vitamin pharmaceutic market. The prescription of vitamins as adjuvants in other pathologic states without vitamin deficiency, such as neurological pains, psychosis, prevention of common cold, alopecia, anemia, asthenia, carpal tunnel defect, etc., is frequent. The results may be good; however, in some cases, the efficacy is due to chance or placebo effect, and there is no scientific or experimental evidence of beneficial activity. At the moment, the pharmacological vitamin research is very active. New products with vitamin-like structures are being synthesized for specialized therapeutic applications. They will in the near future probably replace elevated and mega-doses for clinical prescription, except, of course, for the treatment of vitamin deficiency. On the other hand, the use of multivitamin preparations in nutritional dosage will greatly increase.
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PMID:Clinical conditions requiring elevated dosages of vitamins. 250 93

The use of elevated dosages of vitamin E in humans has led to the discovery of vitamin E deficiency syndromes in neurological areas. This evidence comes from careful clinical studies in which elevated vitamin E dosages were applied. In long-term studies it has now been established that retinal and neurological abnormalities are due to vitamin E deficiency and can be ameliorated by therapy with a large amount of the vitamin enterally or parenterally, which can possibly completely prevent the development of clinical manifestations if adequate treatment is given from an early age. It has also become clear that similar neurological and ocular lesions occur in other chronic fat malabsorptive states such as cholestatic liver diseases, cystic fibrosis, and extensive resection of the gut, with respect to an elevated dosage of vitamin E therapy. More recently, several patients with spinocerebellar degeneration from vitamin E deficiency without other evidence of malabsorption have been reported on in whom the progression of the diseases is cessated by the vitamin E therapy. Whether or not the use of elevated dosages of vitamin E should be recommended for certain diseases in premature infants is controversial. Previously, it has been thought that newborn infants, especially premature infants, suffer from vitamin E deficiency, because of their low plasma vitamin E concentrations and high susceptibility of erythrocytes to hydrogen peroxide hemolysis test. Furthermore, tocopherol deficiency has been implicated in four neonatal conditions: anemia of prematurity, retrolental fibroplasia (RLF), bronchopulmonary dysplasia (BPD), and intraventricular hemorrhage (IVH). A hemolytic anemia, associated with thrombocytosis and edema, which is responsive to vitamin E therapy, is not well recognized and occurs in a minority of preterm infants, who were given high amounts of polyunsaturated fatty acids in their formula. However, prophylactic use of an elevated dosage of vitamin E to prevent anemia in the majority of premature infants is controversial. There is no evidence for beneficial effects in BPD. In addition, the prophylactic use of pharmacological dosages of vitamin E for prevention of RLF and IVH has also had conflicting results. In the course of therapy with elevated dosages of vitamin E, administered either orally, intramuscularly, or intravenously, many problems arose in the infants, such as unexpected death, increased frequency of necrotizing enterocolitis (NEC) and sepsis, and the development of unusual symptoms including hepatic injuries.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Use and safety of elevated dosages of vitamin E in infants and children. 250 8

Young infants with cystic fibrosis (CF) are at risk for developing symptomatic protein-calorie malnutrition (PCM) characterized by hypoalbuminemia, edema, and anemia. We reviewed the hospital charts of all infants less than 12 months of age referred to our CF clinic between 1979 and 1982 and found nine patients with PCM (13%). Their courses were characterized by age less than 7 months (nine patients), frequent use of soy formula (eight patients), presence of gastrointestinal or respiratory symptoms before being diagnosed with CF (eight patients), severe respiratory distress often requiring mechanical ventilation (five patients), significant infections (three patients), and high mortality (five patients). We further noted that eight infants were not on pancreatic enzyme therapy at the onset of PCM. This clinical study extends the findings of earlier reports of PCM in patients with CF by showing that this syndrome persists as a major source of morbidity and mortality in young infants with CF, especially those fed soy formula and not receiving pancreatic enzyme supplements. Because PCM can develop rapidly and may be the presenting sign of CF in young infants, we speculate that early diagnosis of CF with institution of pancreatic supplements may decrease incidence and severity of PCM in young patients with CF.
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PMID:Persistent morbidity and mortality of protein calorie malnutrition in young infants with CF. 308 50

Shwachman's syndrome is, after cystic fibrosis, the most common cause of exocrine pancreatic insufficiency in childhood. The cause of the disorder is not known but we were struck by the fact that the histological appearances of pancreatic atrophy in this condition resemble those seen in experimental copper deficiency, in which the pancreatic acinar damage persists long after the copper deficiency is relieved. Other features of Shwachman's syndrome include neutropenia, anaemia and abnormalities of the ribs and of the metaphyses of long bones. All these findings have also been reported in children with copper deficiency during the 1st year of life. We suggest that some or all cases of Shwachman's syndrome are caused by a period of copper deficiency in early infancy.
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PMID:Hypothesis: Shwachman's syndrome of exocrine pancreatic insufficiency may be caused by neonatal copper deficiency. 319 Jan 62


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