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Biomedical subjects

D Buriot

Publications and source records attributed to D Buriot.

At least 37 records · Page 2Linked to original sources
PubMed1981

[Silvery hair in children: a symptom of leucogranulocytic and melanocytic diseases (author's transl)].

Nine children with silvery hair have been dermatologically studied: eight out nine presented a context of abnormal sensitivity to infections. The study of pigmentation, granulocytes functions and immunity system allows a separation in several types: 1) 4 patients had a characteristic Chediak-Higashi syndrome, this diagnosis being based on pigmentary and immunohematological grounds. 2) Two siblings exhibited functional disturbance of the Chediak-Higashi type, but without its cytological abnormalities. A third patient resembled closely to this picture, but was insufficiently investigated. 3) The eighth patient has been studied by Drs. Griscelli and Pruniéras who had previously described a new disease on immunological, hematological and pigmentary grounds. All these case with defective polymorphonuclear functions have febrile peaks with accelerated aggravation close to Chediak-Higashi syndrome. 4) The ninth patient with silvery hair does not have any immunological abnormalities, nor any accelerated phase at the age of eight but suffers from diffuse epilepsy, cerebellar and chorioretinal atrophy.

Chediak-Higashi Syndrome↗
PubMed1980

[Hemophilia].

Explore the source record for details and available documents.

Child↗
PubMed1980

Transplantation of lymphoid cells in patients with severe combined immunodeficiency (SCID).

The effects of bone marrow or fetal lymphoid organ transplants in 15 patients with severe combined immunodeficiency disease are reported. The benefits and dangers inherent to the various transplantation strategies are discussed. Our studies indicate that, even in the group of patients with B cells, bone marrow transplantation may be the best procedure to obtain the reconstitution of cellular and humoral functions.

B-Lymphocytes↗
PubMed1980

[The Buckley syndrome: recurring, severe staphylococcal infections, eczema and hyperimmunoglobulinemia E. (author's transl)].

Fifteen patients aged between three and 27 years were examined clinically and immunologically. Common to all patients were severe recurring cutaneous and pulmonary staphyloccal infections, chronic eczema, eosinophilia and an extremely elevated serum IgE level. Eight of the patients had in addition facial dysplasia characterised by coarse features, prognathism and poorly formed external ears. Marked osteoporosis, particularly of the vertebral bodies, was observed in eight patients. A constant defect of granulocyte chemotaxis was found in only three patients; fluctuating or constantly normal chemotaxis occurred in six patients. Polycloncal hypergammaglobulinemia was detected in 14 patients, elevated IgD in two patients, a partial T-cell defect in two patients and a history of lack of antibody response in one patient. Therapeutic trails anti-H2 receptor-antihistamines did not produce lasting or satisfactory clinical or immunological results in the pathogenetically unidentified disease.

Adolescent↗
PubMed1980

High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia.

The R-banding of more than 1100 lymphocytes and fibroblasts from 11 patients with ataxia telangiectasia (AT) showed rearrangements of chromosomes 7 and/or 14 in about 7% of the cells. Among these rearrangements, pericentric inversion of chromosome 7 was the most frequent, and the paracentric inversion of chromosome 14 not very rare. These inversions are believed to be fairly specific of AT, and their absence in the previously reported literature may be due to technical problems. Inversions were also observed in the lymphocytes of presumed heterozygote carriers with a lower frequency, and may be of some help for the detection of healthy heterozygote carriers of the AT gene.

Ataxia Telangiectasia↗
PubMed1980

Fulminant meningococcemia in a child with hereditary deficiency of the seventh component of complement and proteinuria.

A previously healthy 14-year-old boy presented with fulminant meningococcemia. He was found to have a total deficiency of C7. His serum totally lacked bactericidal activity against Neisseria meningitidis. Addition of purified C7 restored the serum hemolytic and bactericidal activity. Susceptibility to disseminated Neisseria infections has previously been reported in 3 patients with C7 deficiency, as well as in a few patients with deficiency of C5, C6 and C8. These findings emphasize the importance of intact complement mediated bactericidal activity in host defense against disseminated Neisseria infections. Evaluation of the complement system in individuals with Neisseria infections appears mandatory.

Adolescent↗
PubMed1980

Lactoferrin deficiency as a consequence of a lack of specific granules in neutrophils from a patient with recurrent infections. Detection by immunoperoxidase staining for lactoferrin and cytochemical electron microscopy.

Neutrophils from a boy suffering from recurrent infections were found to be totally deficient in specific granules when studied by electron microscopy. In contrast, myeloperoxidase-containing azurophil granules were increased in number. This deficiency of specific granules could be detected at the light-microscopic level using an immunocytochemical technique to demonstrate the absence of lactoferrin. Neutrophils also exhibited abnormal nuclear segmentation, nuclear clefts, an abnormally weak cytochemical reaction for alkaline phosphatase, and an increased number of mitochondria and ribosomes. Some granulocytic precursors were abnormal, and many of these cells were phagocytosed by macrophages in the bone marrow. Despite these multiple abnormalities and the history of severe pyogenic infection, the in vitro bactericidal capacity of the neutrophils was within normal limits, and normal degranulation of azurophil granules occurred following phagocytosis. The precise mechanism by which the deficiency of specific granules in this patient led to an enhanced in vivo susceptibility to infection therefore remains obscure. However, attention is drawn to the fact that in three previously described cases of specific granule deficiency a history of recurrent infections was present.

Bacterial Infections↗
PubMed1979

[Pulmonary aspergillosis and chronic septic granulomatosis].

Two children with chronic granulomatous disease who developed diffuse pulmonary aspergillosis are described. The outcome was satisfactory in one case with miliary disease because the diagnosis was made early by an open lung biopsy. In the other case the diagnosis was delayed and the child died after 7 months with disseminated haematogenous spread of the fungal infection. Although most of the infections of chronic granulomatous disease are bacterial, the abnormalities of phagocyte killing will also predispose to fungal infections. The prolonged survival of affected children because of antibiotic therapy will increase the risk of parasitic and fungal infections.

Aspergillosis, Allergic Bronchopulmonary↗
PubMed1979

[Acute leukemia in 3 children with chronic juvenile arthritis treated with chlorambucil].

Three children out of a total of 40 who had been treated with chlorambucil for juvenile rheumatoid arthritis developed acute leukaemia. No malignancy was detected in 160 patients in those treated with steroids and/or other anti-inflammatory drugs. Chlorambucil may have induced the malignancies and its use should be avoided in rheumatoid arthritis.

Acute Disease↗