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Biomedical subjects

J M Delâge

Publications and source records attributed to J M Delâge.

At least 19 recordsLinked to original sources
PubMed1997

Multiple bcl-2/Ig gene rearrangements in persistent polyclonal B-cell lymphocytosis.

Persistent polyclonal B-cell lymphocytosis is a benign lymphoproliferative disorder of unknown aetiology occurring exclusively in women, characterized by typical binucleated lymphocytes, polyclonal expansion of B cells and elevated serum IgM. Owing to the role of Bcl-2 oncogene in inhibition of apoptosis, we have investigated the presence of the bcl-2/Ig gene rearrangement. Bcl-2/Ig gene rearrangement was determined by polymerase chain reaction targeting the usual breakpoint regions of the t(14;18). Bcl-2/Ig gene rearrangement was identified in all six patients and, more importantly, multiple rearrangements were present in five patients. The frequency of the bcl-2/Ig gene rearrangement is estimated to be of one translocation in 1 x 10(2) to 1 x 10(3) peripheral blood mononuclear cells. We conclude that persistent polyclonal B-cell lymphocytosis is associated with bcl-2/Ig gene rearrangement. These findings are of clinical importance because these patients may be misdiagnosed as having a leukaemic expression of non-Hodgkin's lymphoma.

Adult↗
PubMed1994

Familial hemolytic-uremic syndrome and homozygous factor H deficiency.

Inherited hemolytic-uremic syndrome (HUS) is unusual. We report the occurrence of HUS in two siblings; one died at an early age while the other (the proband) has presented with three episodes of HUS since the age of 19 years. The finding of a persistently low serum C3 level in this patient led to a thorough evaluation of her complement cascade and a family investigation. The proband and her asymptomatic younger sister were found to have very low serum levels (5% of normal) of factor H, a regulatory protein of the alternative complement pathway. Both patients had low levels of serum C3, factor B, CH50 and VAH50, reflecting persistent alternative pathway activation. The father and mother both had half-normal serum factor H levels but an otherwise normal complement profile. Other members of the extended pedigree were also found to have half-normal serum factor H levels. In conclusion, in this family, factor H deficiency appears to be associated with HUS and is transmitted as an autosomal recessive trait. Persistent C3 hypocomplementemia in the setting of familial and/or recurrent HUS should be a clue to a possible inherited complement deficiency.

Adult↗
PubMed1987

Erythrocyte mean corpuscular volume during cytotoxic therapy is a predictive parameter of secondary leukemia in Hodgkin's disease.

Mean corpuscular volume (MCV) evolution during cytotoxic therapy was studied in 32 patients with Hodgkin's disease (HD) who developed therapy-related acute nonlymphocytic leukemia (t-ANLL) and in 64 HD controls matched for age, therapy duration, and MOPP (mechlorethamine, vincristine, procarbazine, and prednisone) administration. Maximum MCV during therapy reached 108.3 +/- 8.2 fl in t-ANLL patients and 103.4 +/- 9.1 fl in the controls (P = 0.001). Maximum MCV increase was 26.7 +/- 8.3 fl in t-ANLL patients and 16.6 +/- 8.3 fl in the controls (P = 10(-9). The greatest 3-month increase observed during therapy was 14.8 +/- 6 fl in the t-ANLL patients and 10.1 +/- 4.8 fl in the controls (P = 0.0001). During initial MOPP therapy, the greatest 3-month increase reached 14.1 +/- 5.3 fl in t-ANLL patients and 9.8 +/- 4.5 fl in the controls (P = 0.01). The relative risk of developing t-ANLL was 9 for a MCV maximum increase over 24 fl during therapy, which was observed in 71% of the patients with t-ANLL and in only 22% of the controls. For the greatest 3-month MCV increase over 15 fl observed in 57% of the t-ANLL patients and in 17% of the controls, the relative risk reached 15. This suggests that there is at least one factor, independent from therapy, which predisposes to t-ANLL. MCV evolution during therapy appears useful in determining which HD patients have a high risk of developing t-ANLL.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1987

The classical and alternate pathways of complement in oral contraceptive users.

Whole complement (CH50), C3, C4, the alternate pathway activity of complement (APH50) and factor B were measured in 159 women currently taking oral contraceptives and in 186 women who were not taking the pill. The mean levels of all components of the complement, except APH50, were found to be elevated in current users compared to non-users. The elevation in serum levels was seen in the first year after initiation of oral contraceptive use. Thereafter, levels changed little with duration of use. Among women who stopped using oral contraceptives, complement levels were similar to those of women who had never used the pill. Results appeared to be similar irrespective of the type of progestagen included in the oral contraceptive. These data provide support for the view that oral contraceptives have no adverse effect on the classical and the alternate pathways of complement.

Adolescent↗
PubMed1986

Preleukemic changes in cases of nonlymphocytic leukemia secondary to cytotoxic therapy. Analysis of 105 cases.

Peripheral blood changes preceding therapy-related leukemia were studied in 105 patients who had received cytotoxic therapy, 53 for Hodgkin's disease and 52 for other cancers. Preleukemic anomalies were observed in 74.3% of the cases, appearing after a mean interval of 68.7 months after diagnosis of the initial cancer. This interval was only 57.5 months in patients aged 50 years or older and only 42.3 months in patients with Hodgkin's disease having received cytotoxic therapy for 6 months or less. The first changes most frequently observed were pancytopenia (24.8%) and isolated erythrocyte abnormalities such as anemia or macrocytosis (18.1%). Involvement of two cell lines, isolated thrombocytopenia or leukopenia, circulating immature cells, monocytosis, leukocytosis, or thrombocytosis were also observed. Therapy-related myelodysplastic syndrome was recognized in 19 patients and myelofibrosis in 3. Median duration of the preleukemic phase was 6 months; 9 months in cases of isolated erythrocyte involvement and 5 months in the other cases. Myelomonocytic or monoblastic leukemia appeared less frequently when the first sign involved erythrocytes only. Hematological surveillance thus appears necessary in all patients having received cytotoxic therapy. Bone marrow study with cytogenetic examination should be performed in cases of persistent peripheral blood abnormalities.

Adolescent↗
PubMed1982

C3b inactivator deficiency with immune complex manifestations.

We report a complete C3b inactivator deficiency in a 28-year-old patient referred for bronchiectasis and recurrent pneumonia. In addition to these recurrent infections, previously described with this deficiency, he also had several immune complex manifestations (rheumatoid factor, circulating immune complexes and one episode of serum sickness). The consequences of C3b inactivator deficiency on complement activation, chemotaxis and opsonization, clearance of immune complexes, and on red blood cell sensitization are discussed. The study of the parents showed an autosomal dominant transmission.

Adult↗
PubMed1979

Simultaneous occurrence of hereditary C6 and C2 deficiency in a French-Canadian family.

The sera of four sisters were found to lack the sixth component of complement (C6) and the serum of one was also partially deficient in the second component (C2). Two other blood relatives were found to be heterozygous for both deficiencies, while only one sibling had normal values. The father of these eight siblings was heterozygous for C2D and C6D and in the third generation, six children were heterozygous for C6 deficiency was treated for chronic active brucel-transmitted; the C6 deficiency was not linked to the HLA system, while the C2-deficiency segregated with the haplotype A10,B18. The proband, homozygous for C6 deficiency was treated for chronic active Brucellosis and in another sibling with C6 deficiency, toxoplasmosis was diagnosed. Neither bleeding disorders nor a tendency to collagen diseases have been observed and the opsonic activity was normal in the sera of all family members.

Adult↗
PubMed1977

Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family.

The serum of a 44-yr-old woman of French-Canadian descent having a B-27 positive ankylosing spondylitis was deficient in the seventh component of complement (C7) as determined by hemolytic and immunochemical methods. No inhibitor against C7 was detected, and the levels of all other complement components were normal. No deficiency in the opsonic activity of the serum was found, and the results of basic coagulation studies of the plasma were normal. On investigation of the patient's family, two sisters were found to have the same deficiency but were otherwise in good health. The seven other siblings were heterozygous for C7 deficiency, while the paternal aunt had a normal C7 level. In the third generation, six children of the three homozygous sisters and five children of heterozygotes were available for testing. Studies of the HLA antigens in all the 22 subjects and in three spouses indicated no close linkage between the CM deficienty and the HLA system. In addition, the simultaneous occurrence of two hereditary complement deficiencies (C2 and C7) was discovered in one family of this remarkable kindred.

Adult↗
PubMed1975

Increase in the gastrointestinal absorption and in tissue storage of cyclophosphamide in L-1210 leukaemic mice at an advanced stage of the disease.

BDF1 mice were inoculated with 10(6) leukaemic cells and, together with control mice, were given a single oral dose of cyclophosphamide-14C of 100 mg/kg body weight. In the leukaemic mice we observed an increased 14C concentration in the plasma, bone marrow, liver, lungs, spleen, kidney and particularly fat where the level was 2-4 times higher than in control mice. Conversely, during the same period, significantly less 14C was detected in the stomach and small intestine of the leukaemic mice. These results were obtained 6 days after tumour transplantation (median survival time 7.7 days) whereas no differences were observed when the studies were carried out 4 days after tumour transplantation. These findings indicate an increase in the gastrointestinal absorption and in the tissue storage fo cyclophosphamide in L-1210 leukaemic mice at an advanced stage of the disease.

Adipose Tissue↗
PubMed1969

Factor XIII in human plasma and platelets.

Plasma and platelet factor XIII levels were measured in normal human donors and in a patient congenitally deficient in factor XIII. The purpose of these experiments was to study the role of platelet factor XIII in blood coagulation. On polyacrylamide disc electrophoresis, factor XIII activity in extracts of washed normal platelets appeared as a single peak. This peak was missing or very low when factor XIII-deficient platelet extract was used. The patient was also studied before and after transfusion of fresh frozen plasma. Before transfusion, factor XIII activity could not be detected in the patient's plasma or platelet extracts. 24 hr after transfusion the plasma factor XIII level was still at the anticipated value, but factor XIII activity could not be detected in the platelet extracts. These experiments imply that plasma factor XIII was not transported across the platelet membrane in measurable quantities in vivo. This suggests that platelet factor XIII is a true platelet component and originates in the platelet precursor, the megakaryocyte. Thrombelastographic studies suggest that platelet factor XIII participates in the coagulation process. Thrombelastograms of factor XIII-deficient samples had decreased maximum amplitude and clot elasticity values. The abnormalities were fully corrected by the addition of washed normal platelets to factor XIII-deficient plasma; preincubation of the normal platelets in the deficient plasma had no additional effect. This indicates that platelet factor XIII is immediately available during clot formation.

Adolescent↗