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Biomedical subjects

B Cavelier

Publications and source records attributed to B Cavelier.

At least 19 recordsLinked to original sources

[Foetomaternal erythrocyte incompatibilities: from immunohaematologic surveillance of pregnant women to haemolytic disease of the newborn].

Despite the generalization of prevention measures against foetomaternal alloimmunization with anti-D immunoprophylaxis since 1970s, retrospectively 30 years later, its complications (new-born child's severe haemolytic disease, foetal death by anemia or nuclear icterus by bilirubin encephalopathy) have not disappeared. At the same time, alloimmunizations against antigens other than D increase with no possible prevention. As part of the set up in France of regional files analysing and making an inventory of serious foetomaternal incompatibilities requiring in utero or neonatal transfusion, we felt the need to synthesize current data, biological profiles (early screening of erythrocytic alloimmunization and its follow up during pregnancy, father's immunohaematologic status, evaluation of in utero immune haemolysis and impact of new non invasive techniques of diagnosis-RH1 foetal genotypage from ADN foetal of RH1--mothers' maternal plasma), clinical and paraclinical data (evaluation of foetal haemolysis by echography, recording of foetal movements and foetal cardiac rhythm), therapeutic indicators (in utero foetal transfusions or exsanguinotransfusions, neo and postnatal transfusions or exsanguinotransfusions, induced premature labour, newborn's intensive continue phototherapy and Rhesus immunoprophylaxis) in order to enable medical and paramedical professionals to carry out the specific supervision of pregnancies with foetomaternal incompatibility, the in utero, neo- and postnatal treatment of child and the efficient therapeutic prevention of anti-D alloimmunization, in a cooperative way.

Adult↗

Therapy-related acute myeloid leukemia with t(8;21) in a child with previous Ewing's sarcoma.

Cases of secondary acute myeloid leukemia (AML) occurring after treatment for an Ewing's sarcoma are uncommon. Therapy-related AML with t(8;21) translocation is an entity which has been well characterized. A case of AML-2 with t(8;21) and t(3;15) occurring 4 years after treatment for an Ewing's sarcoma with cyclophosphamide, doxorubicin, vincristine, dactinomycin, and radiotherapy, is reported. Autologous bone marrow transplantation was performed during second remission, 23 months after diagnosis. Reverse transcriptase polymerase chain reaction of the AML1/ETO fusion gene product was performed in order to monitor the quality of the remission. The patient currently remains in remission 24 months after the bone marrow transplantation.

Antineoplastic Combined Chemotherapy Protocols↗

N-glycans harboring the Lewis a epitope are expressed at the surface of plant cells.

In plants, N-linked glycans are processed in the Golgi apparatus to complex-type N-glycans of limited size containing a beta(1,2)-xylose and/or an alpha(1,3)-fucose residue. Larger mono- and bi-antennary N-linked complex glycans have not often been described. This study has re-examined the structure of such plant N-linked glycans, and, through both immunological and structural data, it is shown that the antennae are composed of Lewis a (Le(a)) antigens, comprising the carbohydrate sequence Gal beta 1-3[Fuc alpha 1-4]GlcNAc. Furthermore, a fucosyltransferase activity involved in the biosynthesis of this antigen was detected in sycamore cells. This is the first characterization in plants of a Lewis antigen that is usually found on cell-surface glycoconjugates in mammals and involved in recognition and adhesion processes. Le(a)-containing N-linked glycans are widely distributed in plants and highly expressed at the cell surface, which may suggest a putative function in cell/cell communication.

Carbohydrate Sequence↗

Relationship of HLA to schizophrenia not supported in multiplex families.

The role of the human histocompatibility complex (HLA) in the pathogenesis of schizophrenia has been suggested in previous reports. We conducted a genetic study in 33 new families. Our linkage analysis, which used the affected sib-pair method, did not provide evidence for nonrandom assortment. Moreover, the results of an association study using the "haplotype relative risk" method failed to confirm the positive association between HLA A9 and schizophrenia. Taken together, our data did not support any relationship of HLA type to schizophrenia.

Genetic Linkage↗

HLA antigen-sharing in couples with repeated spontaneous abortions and the birthweight of babies in successful pregnancies.

Previously, several groups reported an increase in HLA antigen-sharing in couples suffering from unexplained repeated spontaneous abortions. It was felt necessary to find out if HLA sharing could have any effect on children born after a successful pregnancy. The birthweight figures of children of 76 couples with repeated spontaneous abortions were analyzed. The results show a significantly lower birthweight in babies born from those couples, presenting a high incidence of HLA antigen-sharing, particularly concerning class II antigens.

Abortion, Habitual↗

Chronic urticaria and macroglobulinemia (Schnitzler's syndrome): report of two cases.

Two cases of chronic urticaria associated with macroglobulinemia are reported, and the characteristics of 13 other cases are reviewed. This entity was described by Schnitzler in 1974 and has the following characteristics: chronic nonpruritic urticaria with leukocytoclastic vasculitis, bone pains with hyperostosis, intermittent fever, and a monoclonal IgM gammopathy. Liver, lymph node, and spleen enlargement may occur. Criteria for the diagnosis of Waldenström's disease are lacking (IgM level less than 10 gm/L, no overt lymphoid proliferation in bone marrow). Other immunologic findings (complement, C1 inhibitor, cryoglobulin, rheumatoid factor, antinuclear antibodies) are negative or normal. Evolution is long-term with a long follow-up period. In one case a lymphoplasmocytic lymphoma developed. No adequate treatment has yet been found. Pathogenesis is unclear but seems to be caused by skin deposits of the IgM paraprotein, as attested to by the direct cutaneous immunofluorescent findings in some cases.

Bone Diseases↗

[Latent and postpartum thyroiditis. Prospective study].

Thyroid evaluation was performed in 85 women at childbirth, then between 2 and 7 months, and 14 months later. Transient subclinical hypothyroidism was found in one woman; antithyroid antibodies were found in 10 and were persistent in 6, suggesting a late thyroiditis. For these 6 cases, 5 HLA typing showed 3 Locus DR4. The proportion of antithyroid antibody was the same in a reference population. This finding would be in agreement with the hypothesis of a latent thyroiditis, revealed by pregnancy. Relative iodine deficiency in France could explain the low frequency of post partum thyroiditis in the present study.

Female↗

Taq I polymorphism of HLA class I genes in an ankylosing spondylitis family.

A 3.5-kb HLA class I fragment is polymorphic in an ankylosing spondylitis (AS) family. All B27 AS patients show the 3.5-kb band, which is also present in B12 AS patients in this family. When hybridized with an HLA-B-specific probe, the polymorphic band is revealed in B12 patients, but not in B27 patients.

Alleles↗

[Genetic study of a family of subjects with ankylosing spondylitis].

In a family of four patients with ankylosing spondylarthritis, the study of HLA typing has permitted to establish the dissociated transmission of the B27 antigen and the spondylarthritis: as a matter of fact, if the father and his two sons have the disease, and carry the B27, one of the daughters is also definitely affected with spondylarthritis according to New York criteria, and does not carry the B27. This young woman, also, does not present in her haplotype the genes of susceptibility to psoriasis, B13, B17, CW6, DR7, nor the antigens giving cross reactions with B27, type CREG, B7, B22, B40. So, this young woman seems to have inherited from her father a genetic predisposition toward the disease without transmission of antigen B27 and it is supposed that if this gene is linked to the HLA system by an unbalanced binding, it was transmitted after recombination in her father.

Adolescent↗

Combined influences of Gm and HLA phenotypes upon multiple sclerosis susceptibility and severity.

In some Caucasian populations, multiple sclerosis (MS) susceptibility has been independently related to given alleles of HLA or Gm systems that respectively code for major histocompatibility complex class I and II antigens or immunoglobulin G heavy chains. Whether given combinations of alleles at both series of loci simultaneously influence MS susceptibility and/or severity was investigated by comparing 147 French MS patients and 226 geographically-matched healthy controls. The G2m(-23)/HLA-B35 phenotype and G1m(-1)/HLA-B7(-)/HLA-DR2 phenotype were respectively associated with significant protection against (relative risk = 0.05) and susceptibility to (relative risk = 4.3) MS. When considering MS severity, the presence of HLA-B7 antigen correlated with a more severe disease in Gm1/Gm3 heterozygous patients, but not in Gm3/Gm3 homozygous patients. Conversely, an HLA-B12-associated milder disease was restricted to Gm3/Gm3 homozygotes. These results demonstrate the combined influence on MS of genetic loci that are unlinked but immune response-associated. Combined Gm and HLA typing is very likely able to serve as a prognostic indicator in this disease.

Disease Susceptibility↗

[Postpartum definitive hypothyroidism. 7 cases].

Seven cases of hypothyroidism developed within 6 months of delivery are reported. Radioimmunoassays regularly showed very low thyroxin levels and high thyroid-stimulating hormone levels, thus confirming that the thyroid deficiency was of peripheral origin. A significant rise in antimicrosomal or antithyroglobulin antibodies was noted in 5 cases. One patient had HLA-B8 and 4 had HLA-DR3, which was not significantly different from the prevalence in the regional population. In contrast with the transient post-partum hypothyroidism reported mainly in Japan, the condition proved to be permanent in 6 patients followed up for more than two years. The increased frequency of HLA-DR3 and 5 recently described in thyroiditis with transient post-partum thyrotoxicosis was not found in our series. It would appear that pregnancy, which is a period of immune incompetence, may disclose a latent lymphocytic thyroiditis.

Adult↗

A linkage study between HLA and cutaneous malignant melanoma or precursor lesions or both.

In seven pedigrees displaying the familial atypical multiple mole-melanoma (FAMMM) syndrome, three successive linkage analyses were performed between HLA and an assumed dominant gene determining respectively each of the following affected phenotypes: (1) precursor lesions, (2) cutaneous malignant melanoma (CMM), and (3) precursor lesions or CMM or both. Close linkage could be excluded in (1) and (3). However, if the transmission of malignant melanoma itself were assumed to be due to a single gene different from the one responsible for precursor lesions, a maximum lod score of 1.64 was observed at a recombination fraction of 5%, assuming low penetrance values. These different results are discussed in respect to the possible mechanisms causing the familial distribution of these traits. Two alternative hypotheses were proposed. Either the FAMMM syndrome is a rare genetic entity not closely linked to HLA or the association and transmission of precursor lesions and CMM in families are due to several factors among which HLA might play a role.

Disease Susceptibility↗

HLA A*, B*-BF* and C4 A*, B* allele associations, with special reference to BF*S07, in the Tunisian population.

The HLA A*2, Bw*50-BF*S07-C4 A*2, B*1 linkage group was transmitted unambiguously in four unrelated Tunisian families. In one of these, another allele association, also carrying BF*S07, HLA A*9, Bw*50-BF*S07-C4 A*1, B*1, was encountered. The previously reported linkage disequilibrium between BF*S07 and HLA Bw*50, a subtypic specificity of HLA Bw*21, is confirmed in our study. The C4 A*2, B*1 haplotype, rare in the other populations until now studied, seems more frequent in Tunisia since it has been also found linked to HLA A*11, B*27 and BF*S in one of these families. Other allele associations were unambiguously demonstrated with predominantly the C4 A*3, B*1 haplotype, particularly a rare HLA A*3, B*18-BF*F1-C4 A*3, B*1 linkage group. A silent gene at the C4 A locus was found linked to HLA B*8.

Alleles↗