Search PubMed⌕ Search

Biomedical subjects

C Werner-Favre

Publications and source records attributed to C Werner-Favre.

32 records · Page 2Linked to original sources
PubMed1984

Cytogenetic study in a mentally retarded child with Bloom syndrome and acute lymphoblastic leukemia.

Bloom syndrome (BS) was diagnosed in a 7-year-old boy during hospitalization for acute lymphoblastic leukemia (ALL). The patient had most of the signs of BS along with some atypical manifestations: absence of telangiectases, obesity, and moderate mental retardation. Results of the cytogenetic studies were fully consistent with the diagnosis of BS: the occurrence of quadriradial figures and a very high incidence of sister-chromatid exchanges (SCE). This child's ALL was of non-B, non-T type with the presence, at the time of diagnosis, of a marrow clone including two markers. A Yq - chromosome was detected in about 10% of PHA-stimulated lymphocytes but neither in bone marrow cells nor in skin fibroblasts. This case is the fifth instance of ALL out of 104 registered cases of BS.

Bloom Syndrome↗
PubMed1983

Acute lymphoblastic leukemia in two children with a congenital chromosome anomaly: familial inv(11)(p15q13) in one and ring chromosome No. 21 in the other.

A congenital chromosome abnormality was found in two unrelated children with acute lymphoblastic leukemia (ALL). In the first case, a pericentric inversion of chromosome No. 11, inv(11)(p15q13), was observed and discovered to be familial, being present in five other members of the family over two generations. In the second case, the presence of a congenital ring chromosome No. 21, 46,XX,r(21), was considered to be the result of a de novo mutation. The possible relation between these congenital chromosome anomalies and a predisposition to neoplasia is discussed and could be explained by different mechanisms: (1) amplification of oncogenic determinants by gene duplication, and/or (2) alteration of the effects of wildtype alleles through deletion or changes in position.

Bone Marrow↗
PubMed1983

Isochromosome 21 and other chromosomal abnormalities in a patient with erythroleukaemia.

Cytogenetic analysis in a patient with erythroleukaemia revealed a hypodiploid cellular clone with several acquired karyotypic aberrations including an isochromosome for the long arm of chromosome 21 : 45,XY,-5,-7,-18,-19,-21, + 17, + i (21q)(qter leads to cen leads to qter), + mar1, + mar2. The markers probably include respectively the major part of chromosome 19 and most of the long arm of chromosome 7. These rearrangements and their potential significance are discussed.

Aged↗
PubMed1980

Blood transfusions and antibody response in patients waiting for a kidney transplant.

Cold and warm B and T cell antibodies have been investigated following blood transfusion in patients waiting for a kidney transplant. 18 out of 28 patients were sensitized after a single transfusion: half of them presented a B-warm pattern and the other half either a T-warm or a B-cold pattern. Several sera collected after one transfusion were absorbed with pooled platelets. All three T-warm sera have become negative after absorption. Out of 21 B-warm sera, 6 remained B-warm, 3 became B-cold and 12 were negative after absorption. There was no difference in strength between the B-warm sera which were absorbed and those which resisted to absorption. Dilution studies showed that sera followed a similar trend: they convert from T-warm to B-warm and B-cold patterns. Sequential sera from patients receiving systematic transfusions were tested at regular intervals after each transfusion. Most patients produced B-warm antibodies.

Absorption↗
PubMed1979

Blood transfusions, cytotoxic antibodies, and kidney graft survival. Preliminary results of a systematic transfusion protocol.

Since pretransplant blood transfusions have been shown to prolong the survival of kidney grafts, a new transfusion policy has been started in the frame of Swisstransplant. Before surgery all patients receive at least two and, if possible, five transfusions (whole blood or packed red blood cells). The present study includes 101 recipients of primary cadaver grafts. Of these, 41 were transfused regularly according to the new protocol, 46 had irregular transfusions because of therapeutic necessity, and 14 had no transfusion before grafting. The 1-year survival rate in pretransfused patients was over 70% as compared to 45% in the nontransfused group. There was no significant association with the number of transfusions, but a slight improvement in graft survival was seen in patients deliberately transfused when compared with those transfused because of severe anaemia. A delay of more than 3 months between the last transfusion and transplantation significantly decreased graft survival at 6 months (84 versus 58%; P less than 0.02). The occurrence of cytotoxic antibodies, both antiperipheral blood lymphocytes (PBL) and anti-B cell antibodies, was investigated in relation to the number of transfusions received. Broad-spectrum anti-PBL antibodies (greater than 50% of random panel) were found in 5 of 74 patients transfused according to the protocol (7%) and in 15 of 93 patients transfused for severe anaemia (16% P, not significant). Of 71 recipients followed up for 6 months, 15 (21%) produced anti-PBL antibodies with limited specificity (less than 50%), and 4 (6%) produced broad-spectrum antibodies. Anti-B cell antibodies (less than 50%) were produced in 21 of 64 patients (33%). Six patients (9%) had broad-spectrum activity. The occurrence of these antibodies was not associated with the number of transfusions received and did not significantly influence the graft survival at 6 months. The change in transfusion policy seems to have improved graft survival without producing strong presensitization in a prohibitive proportion of the patients on hemodialysis.

Antilymphocyte Serum↗
PubMed1979

Increased frequency of HLA--DRw2 and DRw3 in multiple sclerosis.

Previous studies of multiple sclerosis patients showed the existence of a positive association between multiple sclerosis and HLA--A3 and --B7, as well as a negative association with B12. These observations have been confirmed. In addition, a more marked association has been observed with two recently identified B-cell antigens, DRw2 and DRw3, closely related to the HLA--D locus. The presence of cold lymphocytotoxic antibodies was found to bear no relationship with those two specificities. These results suggest that two genes of the HLA--DR region may play a role in the pathogenesis of multiple sclerosis.

Epitopes↗
PubMed1978

[HLA-DRW antigens and multiple sclerosis].

Previous studies of multiple sclerosis patients showed the existence of a positive association between multiple sclerosis and HLA-A3 and B7, as well as a negative association with B12, These observations have been confirmed. In addition, a more marked association has been observed with two recently identified B-cell antigens, DRW2 and DRW3, closely related to HLA-D locus. The presence of cold lymphocytotoxic antibodies was found to bear no relationship with those two specificities. These results suggest that two genes of the HLA-DR region may play a role in the pathogenesis of multiple sclerosis.

Adolescent↗