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61.
N. E. Simpson L. Dallaire J. R. Miller L. Siminovitch J. Miller J. L. Hamerton 《Canadian Medical Association journal》1979,120(6):653-657
Experience with the diagnosis of neural tube defects from alpha1-fetoprotein (AFP) concentrations in amniotic fluid is reported from a prospective study of five laboratories testing for 13 Canadian genetic centres. The results of the study indicate that antenatal diagnosis of open neural tube defects is being carried out effectively in Canada (in 99.2% of cases the AFP measurements were interpreted correctly). Amniocentesis should be recommended to women at high risk for having a child with a neural tube defect (i.e., those who have a child, a parent or a sibling with a neural tube defect). The rate of neural tube defects in 182 high-risk pregnancies was 2.2% for an open defect and 1.1% for a closed defect, whereas the rate in 673 pregnancies in which amniocentesis was being performed for other reasons was 0.3%. This suggests that the AFP concentration should be measured in any sample of amniotic fluid collected for other reasons (usually fetal karyotyping). There were three instances of false-negative results, for a rate of 0.4%. Two closed neural tube defects were not detected; this limitation of the test has also been found by others. One of the six fetuses with an open neural tube defect, who died in utero, had a large myelocele in the neck that was not recognized. There were also four instances of false-positive results, for a rate of 0.5%. The findings suggest that AFP values that are more than 2 but less than 7 standard deviations (SDs) above the mean may indicate a neural tube defect, and that values 7 or more SDs above the mean very likely indicate such a defect, although other reasons for such high values (e.g., fetal erythrocytes in the amniotic fluid, intrauterine death and mistaken gestational age) must be ruled out by other methods. 相似文献
62.
S B Melancon B Grenier L Dallaire M Potier G Fontaine B Grignon G Geoffroy B Lemieux A Barbeau 《The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques》1979,6(2):263-273
Glutamic and aspartic acid uptake was measured in skin fibroblasts from patients with Friedreich's Ataxia, dicarboxylic aminoaciduria, and normal individuals. The results showed no difference in uptake kinetics of either dicarboxylic amino acids between Friedreich's Ataxia and normal cells, but reduced uptake velocities in dicarboxylic aminoaciduria fibroblasts. Friedreich's Ataxia fibroblasts were, however, less calcium-dependent and more magnesium and phosphate-dependent than controls in glucose-free incubation mixture. This difference might be related to some degree of glucose intolerance by Friedreich's Ataxia fibroblasts in culture. 相似文献
63.
64.
Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria 总被引:4,自引:0,他引:4
G A Mitchell D Watkins S B Melan?on D S Rosenblatt G Geoffroy J Orquin M B Homsy L Dallaire 《The Journal of pediatrics》1986,108(3):410-415
We describe two patients with methylmalonic aciduria and homocystinuria (Cbl C). The disorder was not diagnosed in patient 1 until 4 1/2 years of age; he had a history of fatigue, anorexia, delirium, and spasticity. Moderate megaloblastic bone marrow changes were observed, and there was hyperreflexia of the lower limbs. His condition improved clinically with hydroxycobalamin therapy. Patient 2 was hospitalized at 6 weeks of age because of lethargy and poor feeding. She was found to have macrocytosis. Despite an initial good clinical response to hydroxycobalamin, she developed a striking pigmentary retinopathy. Methylmalonic aciduria persisted in both patients, and homocystinuria persisted in patient 1 despite therapy. The diagnosis of Cbl C disease has been confirmed in both patients by biochemical studies of cultured fibroblasts, including complementation studies. The differences in age of onset and clinical findings together with the similar biochemical findings in these two patients demonstrate the heterogeneity of phenotypic expression in patients with apparently identical abnormalities of vitamin B12 metabolism. 相似文献
65.
Total parenteral nutrition in very low birth weight infants with Travasol 10% blend C 总被引:1,自引:0,他引:1
M Pineault P Chessex D Lepage L Dallaire G Brisson I Qureshi 《JPEN. Journal of parenteral and enteral nutrition》1986,10(3):296-299
Ten very low birth weight (VLBW) infants (birth weight: 994 +/- 66 g, gestational age: 27 +/- 0.5 wk) requiring total parenteral nutrition (TPN) were studied in order to evaluate their metabolic response to the amino acid solution Travasol 10% blend C. These patients received the solution at a constant rate, providing 2.61 +/- 0.02 g/kg/day of amino acids and 76 +/- 1 kcal/kg/day. Plasma amino acids analysis was performed after 4.6 +/- 0.3 day of infusion and compared to values reported previously with Travasol blend B. The new solution (blend C) showed a significantly lower (p less than 0.001) glycinemia (485 +/- 24 vs 993 +/- 69 mumol/liter), methioninemia (39 +/- 2 vs 114 +/- 12 mumol/liter) and phenylalaninemia (67 +/- 3 vs 92 +/- 5 mumol/liter) related to the lower intake of these amino acids. Despite the provision of 47.5 mmol/liter of serine with blend C no changes in plasma level (182 +/- 15 vs 196 +/- 41 mumol/liter) were noted. The increased molar arginine/glycine ratio (blend C: 0.48 vs blend B 0.22) could have contributed to keep ammoniemia within normal levels (55.1 +/- 4.2 mumol/liter). Wide variations in insulin response (9.9 to 26.4 microU/ml) allowed for a correlation between its plasma concentration and those of sensitive amino acids, underlining its role in protein metabolism. Despite the immaturity of the study population no short-term metabolic imbalance has been encountered with the Travasol blend C solution. 相似文献
66.
67.
Morin D Saint-Laurent L Dallaire C Boucher-Dancause G Lalancette S Leblanc N 《Journal of nursing care quality》2007,22(1):66-72
This qualitative study took place in Quebec City, Quebec, Canada. The main objective was to evaluate satisfaction with a transitional program aimed at keeping seniors in the community while waiting for admission to a public long-term care facility. Semistructured interviews were conducted with 4 types of informants: seniors, family members, facility managers, and hospital or community care coordinators. Results show that satisfaction varies according to groups of informants but seniors are the most satisfied of all. 相似文献
68.
Ana Claudia de Souza Leite MS DrSc Lorita M. Freitag Pagliuca MS DrSc Paulo Cesar P. Almeida MS DrSc Clemence C. Dallaire MS DrSc 《Pain Management Nursing》2008,9(2):81-86
Health professionals have numerous visual and reporting scales at their disposal to assess pain. In recent years new tactile tools have been created (Pain Texture Scale and Tactile Pain Scale). This study validates these scales compared with the Numerical Rating Scale in 36 blind athletes who were assessed before and after competitions in the World Paralympics Games organized by the International Blind Sports Federation (IBSA) in Quebec, Canada. The reliability of these scales was analyzed through the intraclass correlation coefficient. Results showed good reliability for the Tactile Pain Scale and satisfactory reliability for the Pain Texture Scale. 相似文献
69.
The family drawings of at-risk children: concurrent relations with contact with incarcerated parents, caregiver behavior, and stress 总被引:1,自引:0,他引:1
The current study examined children's attachment representations as assessed with their family drawings in relation to contact with an incarcerated or estranged parent, caregiver behavior, and family stress in a high-risk sample of children (N = 44, M (age) = 8.14), 55% of whom had incarcerated parents. Greater phone, mail, and physical contact with an incarcerated parent was associated with more role reversal in children's family drawings. Additional results show that child-reports of more hostile caregiver behavior were associated with greater overall insecurity in their family drawings; child and caregiver reports of stress were associated with increased global pathology and bizarreness/dissociation in children's family drawings. Given the lack of research on concurrent familial-based correlates of ratings made of children's family drawings, these results provide additional insights into children's representations of attachment relationships in early middle childhood. Further, the results regarding contact with incarcerated parents have implications for researchers and clinicians working with families impacted by parental incarceration. 相似文献
70.