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We have investigated the levels of fructose 2,6-bisphosphate and its synthesizing enzyme 6-phosphofructo-2-kinase in red blood cells from different congenital anemias. Fructose 2,6-bisphosphate concentration and 6-phosphofructo-2-kinase activity are markedly influenced by the number of reticulocytes in all the cases studied with the exception of homozygous pyruvate kinase deficiency, where no correlation was observed with the percentage of reticulocytes. 相似文献
3.
Ferran Aragón Citlali Vázquez-Echeverría Encarna Ulloa Michael Reber Silvia Cereghini Berta Alsina Fernando Giraldez Cristina Pujades 《Developmental dynamics》2005,234(3):567-576
The homeobox-containing gene variant hepatocyte nuclear factor-1 (vHnf1) has recently been shown to be involved in zebrafish caudal hindbrain specification, notably in the activation of MafB and Kro x 20 expression. We have explored this regulatory network in the chick by in ovo electroporation in the neural tube. We show that mis-expression of vHnf1 confers caudal identity to more anterior regions of the hindbrain. Ectopic expression of mvHnf1 leads to ectopic activation of MafB and Kro x 20, and downregulation of Hoxb1 in rhombomere 4. Unexpectedly, mvhnf1 strongly upregulates Fgf3 expression throughout the hindbrain, in both a cell-autonomous and a non-cell-autonomous manner. Blockade of FGF signaling correlates with a selective loss of MafB and Kro x 20 expression, without affecting the expression of vHnf1, Fgf3, or Hoxb1. Based on these observations, we propose that in chick, as in zebrafish, vHnf1 acts with FGF to promote caudal hindbrain identity by activating MafB and Kro x 20 expression. However, our data suggest differences in the vHnf1 downstream cascade in different vertebrates. 相似文献
4.
Alvaro Urbano-Ispizua Estela Matutes Neus Villamor Jorge Sierra Asumpció Pujades Joan-Carles Reverter Evarist Feliu Francisco Cervantes Joan-Lluis Vives-Corrons Emilio Montserrat Ciril Rozman 《British journal of haematology》1992,81(2):178-183
The immunophenotype of leukaemia cells from 60 patients with acute myeloid leukaemia (AML) was analysed with the APAAP technique using a panel of anti-myeloid and lymphoid associated monoclonal antibodies (McAb). Cells from all cases, including three with negative cytochemical features, were labelled by at least one of the anti-myeloid McAb CD13, anti-myeloperoxidase (anti-Mpo), and/or CD14. The most sensitive marker was CD13, since it was positive in 90% of cases. In two out of three AML cases defined as M0-AML, CD13 was expressed in the cytoplasm but not on the membrane; in these three cases peroxidase (Mpo) was not detected by conventional cytochemistry, but could be demonstrated in all of them using the McAb anti-Mpo. The simultaneous expression of CD14 and CD68 McAb was often confined to the M4 and M5 FAB AML subtypes (92% cases) as compared to the others: M1, M2, M3 (18% cases). Lymphoid antigens were rarely positive (TdT+: 13%, CD7+: 15%, CD19+: 5%) and none of the AML cases were CD3+ or CD10+. By contrast, CD4 was expressed in blasts from 44% of cases and this was not restricted to AML with a monocytic component (M4, M5) but also found in other subtypes. There were no significant differences in the clinical or prognostic features according to the positivity or negativity with TdT and CD4. By contrast, expression of CD7 was associated with refractoriness to the treatment or short complete remission duration, although the number of patients is too small to draw firm conclusions. Our findings support the clinical and diagnostic relevance of immunophenotypic studies in AML. 相似文献
5.
J L Vives-Corrons A Pujades E Vela J M Corretger A Leroux J C Kaplan 《Acta haematologica》1978,59(6):348-353
Methemoglobinemia and mental retardation associated with NADH-diaphorase deficiency was found in a 2-year-old girl of Spanish origin. She showed no NADH-diaphorase activity in either erythrocytes or leukocytes, but electrophoretic studies of the hemolysate showed traces of an enzyme with normal mobility. Cytochrome b5 reductase activity was also found to be absent in the leukocytes of the propostius. Intermediate NADH-diaphorase activity was found in erythrocytes and leukocytes in her parents and her sister in accordance with the autosomal recessive mode of inheritance of this enzymopathy. The relationship between a generalized cytochrome b5 reductase deficiency and the progressive neurological involvement in our patient is discussed briefly. 相似文献
6.
J. -Ll. Vives Corrons A. Miguel García A. Miguel Sosa A. Pujades D. Colomer M. Linares 《Annals of hematology》1991,62(5):190-193
Summary The aim of this paper is to describe the clinical and hematological characteristics of a 32-year-old woman with concomitant heterozygous pyruvate kinase (PK) and glucose-6-phosphate dehydrogenase (G6PD) deficiencies and severe hemolytic anemia during pregnancy. In 1964, Oski et al. [16] described a family in which a clinically healthy woman was heterozygous for both PK and G6PD deficiencies. To our knowledge, the present case is the first described in which the same condition is associated with hemolysis. A heterozygous condition for both enzymopathies was clearly demonstrated by family study criteria, and all other causes of hemolytic anemia were eliminated. No evidence of genetic relationship between the two disorders was demonstrated. Since late onset of hemolysis in heterozygous PK-deficient women has been observed in association with pregnancy and the molecular characteristics of the concomitant deficient G6PD enzyme were kinetically favorable, partial PK deficiency is suggested as the major cause of hemolysis in this patient. 相似文献
7.
Josep Roig Jordi Gironès Elisenda Garsot Manel Puig Marcel Pujades José I. Rodríguez Antoni Codina 《Clinical & translational oncology》2006,8(3):213-217
Introduction The present study presents the initial results of the use of video-assisted surgery in the curative intent treatment of gastric
cancer in a specialised unit of esophago-gastric pathology.
Methods Since December 2002 we have substituted laparotomy for video-assisted surgery for the surgical treatment of gastric cancer.
We report our initial experience in 28 patients. In 20 we performed a total gastrectomy with Roux Y esophago-jejunum reconstruction.
In another 8 cases we performed subtotal gastrectomy with Roux Y reconstruction. The anastomoses in total gastrectomy were
performed with laparoscopy with the EEA head descending via the endo-esophageal route. The resected piece is extracted via
minimum laparotomy. The associated complete lympadenectomy D2 was performed in the tumours of the gastric antrum and D1 plus
the lymph node groups 7, 8, 9 and proximal 11 at the second level in the gastric body and fundus.
Results The mean duration of intervention was 222 minutes and the mean blood loss was 185 ml. Mortality was 3.7% and morbidity was
19%. There was a reduction in post-operative analgesia requirements and the mean hospital stay was 11 days.
Conclusions Gastric resection and related lympadenectomy can be performed using video-assisted surgery in a manner that is as safe as
conventional surgery and, further, has considerable advantages. The greater complexity requires that the surgical team is
better trained in the use of the laparoscopy technique. In the few studies on the theme, there appears to be no oncological
inconveniences associated with the technique. 相似文献
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9.
Mortality and clinical outcomes in children treated with antiretroviral therapy in four African vertical programmes during the first decade of paediatric HIV care, 2001–2010 下载免费PDF全文
10.
Prognostic burden of heart failure recorded in primary care,acute hospital admissions,or both: a population‐based linked electronic health record cohort study in 2.1 million people 下载免费PDF全文