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Biomedical subjects

P Netter

Publications and source records attributed to P Netter.

At least 343 records · Page 19Linked to original sources

HLA antigens and hereditary hemorrhagic telangiectasia.

HLA antigens (27 HLA alleles of the A and B loci) were determined in 20 subjects of the same family, covering three generations; 6 of them were suffering from hereditary hemorrhagic telangiectasia. The haplotype HLA A2, Bw17 was found in all the sufferers. The same haplotype was not found in clinically health members except two of the generation III, but a visceral angiomatosis without clinical evidence cannot be excluded. An association of hereditary hemorrhagic telangiectasia with the haplotype HLA A2, Bw17 can be suspected in this family.

Female↗

Hereditary diffuse articular chondrocalcinosis. Dominant manifestation without close linkage with the HLA system in a large pedigree.

Thirty-nine members of one family, covering three generations, were HLA-typed. Twenty-five suffered from primary diffuse articular chondrocalcinosis, and all had the same dominantly transmitted autosomally controlled disease. This was characterized by acute articular attacks, which always started before the age of 35, and radiologically by typical cartilaginous and fibrocartilaginous deposits associated with para-articular calcifications. The lesions were both peripherally and axially generalized. None of the 28 HLA antigens tested seemed related to the disease, nor did the disease segregate with an HLA haplotype.

Adult↗

Identification of microcrystals in synovial fluids by combined scanning electron microscopy and x-ray diffraction : application to triclinic calcium pyrophosphate dihydrate.

We report a method for studying microcrystals which combines scanning electron microscopy, electron-dispersive X-ray analysis, and X-ray diffraction. Application of all three techniques to the same crystalline bodies permits correlation of their three-dimensional morphology at high magnification with unambiguous identification by means of their crystallographic properties. The method was applied to triclinic calcium pyrophosphate dihydrate.

Calcium Pyrophosphate↗

HLA antigens and alkaptonuria.

Thirty members of Family C, which included cases of alkaptonuria and ochronosis, were investigated by means of HLA typing and homogentistic acid determination. The antigen HLA B27 was found in one of the two members of the first generation, in all eight members of the second generation, and in 15 of the 21 members of the third generation. Eight of 10 subjects suffering from alkaptonuria, with or without ochronotic arthropathy or spondylosis, had B27. The gene for B27 is not the gene determining homogentisic acid oxydase synthesis but this study suggests that it may be associated or linked to it.

Alkaptonuria↗

[HLA-B27 antigen and alkaptonuria].

Study of urinary homogentisic acid and a determinantion of group HLA were carried out for 36 members of a family spread over three generations with three cases of ochronotic rheumatism in the second generation. Alkaptonuria was discovered in seven other subjects, six of them members of the third generation: urinary elimination was poor, less than 0.60 g/24 hours. There is a certain degree of consanguinity in the family studied here and these findings do not therefore rule out a recessive autosomal transmission of the alkaptonuria. They do however lead to the consideration that alkaptonuria may sometimes be found in heterozygotic subjects. A genetic relationship between HLA complex and alkaptonuria can only be claimed with difficulty from this familial study, but the high frequency of B 27 antigen (29 out of 36 members carring it) leaves room for the hypothesis that the B 27 gene, or more precisely a gene associated with the B 27 gene, plays a part in the development of ochronotic rheumatism.

Adult↗

[Ochronotic hip disease. Radiological and scintigraphic study (author's transl)].

A radiological and scintigraphic study of hte femoral head removed from a patient at the time of insertion of a total prosthesis of the hip in a patient with ochronotic rheumatic disease. The images obtained differ from those seen in aseptic osteonecrosis and confirm the hypotheses of Lagier, who has described several forms of arthrotic remodelling in ochronotic hip disease.

Female↗

[Identification of the crystals observed in the destructive arthropathies of chondrocalcinosis].

Study of the synovial membrane and cartilage demonstrating two destructive arthropathies of the knee diagnosed in subjects with articular pseudogout. Scanning electron microscopy reveals the presence of many crystals on the surface of the cartilage and the synovium and in the depth of the cartilage. These can be grouped into two families on the basis of dimensions and morphology. The first consists of those shaped like arrowheads and are large (80-100 microns long.) They were formally identified using Weissenberg's technique; dihydrated calcium hydrogenophosphate (CaHPO4.2H2O) is involved here. In the second family the crystallogenesis is different (prism or lozange-shaped) and the crystals themselves have not been identified with certainty because of their tiny size (20 microns). The hypothesis is proposed that the crystals of dihydrated calcium hydrogenophosphate properly belong to the destructive arthropathies of pseudogout; while not necessarily its cause, they may help explain its development.

Aged↗

[Gastric mucosa in patients with rheumatoid polyarthritis treated by anti-inflammatory agents. Clinical, radiological, endoscopic, anatomopathological and ultrastructural study].

One hundred patients (50 male, 50 female) suffering from rheumatoid arthritis, treated for more than 6 months with steroid and/or non-steroid anti-inflammatory agents were studied using barium X-rays and gastro-fibroscopy. In 69, one or more gastric biopsies were taken during the endoscopy. The study showed a marked preponderance of ulcerous lesions in males, 9 of the 13 iatrogenic ulcers being found in this sex. It also confirmed the frequency of gastritis and the absence of any correlation between clinical signs and radio-endoscopic findings as well as between the latter and histopathological data. An ultra structural study carried out in 20 cases revealed focal lesions of the clear cells of the neck of the fundus and antral glands and, in 4 cases, marked changes in the gastric endocrine cells.

Anti-Inflammatory Agents↗

Mitochondrial genetics. XI. Mutations at the mitochondrial locus omega affecting the recombination of mitochondrial genes in Saccharomyces cerevisiae.

1. A series of CS revertants has been selected from various strains (both omega+ and omega-) carrying a CR mitochondrial mutation at the RIB1 locus. The properties of mitochondrial recombination exhibited by these CS revertants in various crosses, have been examined systematically. The omega allele of the CS revertants has been defined in crosses with omega+ and omega- tester strains using two criteria: the polarity of recombination and a new criterium called relative output coefficient. We found that mutations of omega appear frequently associated with the mutations at the RIB1 locus selected from omega- strains but not with those selected from omega+ strains. A new allelic form of omega (omega n) which had not been found amongst wild type yeast strains is characterised. Similarly omega n mutation was found frequently associated with CR mutants at the RIB1 locus selected from omega- CS strains but not with those selected from omega+ CS strains. The omega n mutants, and the omega+ and omega- strains, explain the groups of polarity previously observed by Coen et al. (1970). 2. Main features of mitochondrial crosses with omega n strains (omega+ x omega n, omega- x omega n and omega n x omega n) are analysed. Recombination is possible between the different mitochondrial genetic markers. No high polarity of recombination is observed and the frequency of recombinants are similar to those found in homosexual crosses (omega+ x omega+ and omega- x omega-). A striking property, observed for the first time, exists in crosses between zota+ omega n CS strains and some zota- CREO mutants: the zota- CREO are unable to integrate by recombination their CR allele into the zota+ mit-DNA of omega n CS strains while being capable of integrating it into omega+ CS or omega- CS genomes. 3. It is proposed that the omega locus is the site of initiation of non reciprocal recombination events, the omega+/omega- pairing specifically initiates the non-reciprocal act while omega+/omega n or omega-/omega n pairings do not. 4. The molecular nature of the omega n mutation and its bearing on the structure of the omega locus are discussed. It is suggested that omega n mutations correspond to macrolesions (probably deletions) of a segment of the mit-DNA covering the omega and RIB1 loci. If omega n is a partial deletions of the omega- sequence the omega+ could be an additionnal deletion of the omega n sequence. 5. The occurrence of spontaneous CR and ER mitochondrial mutations has been analysed by the Luria and Delbrück fluctuation test in omega- and omega n isonuclear strains. Results of these tests indicate that an intracellular selection of resistant copies preexisting the action of the anttibiotic occurs.

Alleles↗

[Diagnostic value of localized hypofixations in the radioisotope scanning of bones].

The scintigraphic appearances of all localized, evolutive bone lesions, whatever their nature, is usually a "hot spot", that is a zone of hyperfixation of the radioactive material. False negatively scintigraphs are, however, noted: the scintigraphic image appears normal, without a zone of hyperfixation, although radiographs of the skeleton are pathological. The 8 cases presented in this article demonstrate that certain bone lesions (aseptic osteonecrosis and malignant destruction of bone) may sometimes be represented as real zones of hypofixation, as veritable "cold spots". These areas of hypofixation result from either a local interruption in the vascularization, which prevents the isotope from reaching the bony structures, or from a quantitative insufficiency of the bony tissue, this being replaced by neoplastic tissue which, in the cases studied, fixed labelled Bleomycin or iodine-131. These areas of hypofixation and any absences of fixation really are the scintigraphic images of areas of osteolysis or of aseptic osteonecrosis but they are generally masked by hyperfixation around the lesion that results in reactional osteogenesis and hypervascularization.

Aged↗

[Pigmented villonodular synovitits of the hip: ultrastructure and aspects on scanning electron microscopy].

The authors studied one case of pigmented, villonodular synovitis (PVNS) of the hip by means of optical microscopy and by transmission and scanning electron microscopy. Scanning electron microscopy showed that the surface of the PVNS is completely different from that of rheumatic synovitis, in particular that of rheumatoid synovitis. The composition and the cellular morphology of the outer layer of the PVNS appear, however, to be similar to those of normal synovial membrane of arthrosic synovial membrane. Clumps of red corpuscles, enclosed in a fibrin network, were visible on the surface of the PVNS in a way that the authors has never seen previously in the 19 other human synovial membranes, normal and pathological, they had studied in this way. The totality of the microscopic findings confirms the importance of the role played by the intra-articular and intra-synovial haemorrhages, and by the macrophage reactions that follow, in the development of the lesions that characterize PVNS.

Adult↗