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Biomedical subjects

M Alcalay

Publications and source records attributed to M Alcalay.

At least 91 records · Page 5Linked to original sources
PubMed1990

[Articular manifestations in Wegener's disease. Report of 13 cases].

Seventeen cases of Wegener's granulomatosis have been reviewed in search of articular involvement. Articular symptoms were present in 13 cases (76 p. cent), and were inaugural in 9 cases (53 p. cent). Six of these patients experienced arthralgias, which were most often migratory, and were inaugural in 3 cases. Seven patients had arthritides, which were inaugural in 6 cases; they were fixed and additive in 6 of these 7 cases, making up a distal polyarthritis in 3 patients, and an oligoarthritis in the 3 other ones; they were transient and migratory in 1 case. The 3 cases of distal polyarthritis were inaugural and fulfilled the ARA criteria for rheumatoid arthritis; two of them were accompanied by nodules which were quite identical to rheumatoid ones. There was no axial involvement. Joint involvement was not destructive and had a favourable course under disease treatment. Myalgias were present in 3 cases, one of which simulated Horton's disease. Biological manifestations chiefly consisted of marked inflammatory changes. Antineutrophil cytoplasm antibodies were present in 11 out of 16 patients in whom they were searched; among 6 of these patients who had active disease, they were present in 5. The antibody level decreased as treatment reduced disease activity and suppressed joint involvement. Joint involvement in Wegener's granulomatosis seems to be the inconstant hallmark of disease activity. It requires no specific treatment.

Adult↗
PubMed1990

Characterization of human and mouse c-fes cDNA clones and identification of the 5' end of the gene.

cDNA clones of the human c-fes mRNA were isolated. Nucleotide analysis showed that c-fes mRNA contains a 2514 nucleotide open reading frame, which could encode for a 93 kDa protein, and both 5' and 3' v-fes nonhomologous sequences. Primer extension experiments confirmed that the longest isolated cDNAs are about the same length as the entire human c-fes mRNA. Sequence comparison between human c-fes cDNA and the corresponding genomic regions identified a 5' viral-non homologous exon (exon 1) located 491 bp upstream from the first v-fes homologous exon. The genomic region surrounding c-fes exon 1 contains a CpG island and acts as a promoter in vitro. Analysis of the 5' end of mouse c-fes cDNA suggested that the 5' human and mouse gene structure are similar.

Amino Acid Sequence↗
PubMed1989

[Post-traumatic reactive arthritis. Etiologic, clinical and diagnostic aspects. Apropos of 6 cases].

The relationship between trauma and reaction arthritis, although controverted must be interpreted in each specific cases, after chronological analysis of the events. The localizing role of a trauma occurring before the infectious episode and affecting, topographically, a specific joint, may be accepted. It is reasonable to admit that a trauma, following an infectious episode, may possibly trigger rheumatism, providing that one of these arthritis corresponds topographically to the trauma. On the contrary, it does not seem possible to accept, in the present state of our knowledge, that an isolated trauma occurring on a genetically predisposed individual, may generate, out of nothing, a Fiessinger-Leroy-Reiter syndrome.

Adult↗
PubMed1989

Two point mutations are responsible for G6PD polymorphism in Sardinia.

The human X-linked gene encoding glucose 6-phosphate dehydrogenase (G6PD) is highly polymorphic; more than 300 G6PD variants have been identified. G6PD deficiency in different geographical areas appears to have arisen through independent mutational events, but within the same population it may also be heterogeneous. One example is the island of Sardinia, where careful clinical and biochemical studies have identified four different G6PD variants. We cloned and sequenced the four G6PD variants from Sardinia and found that only two mutations are responsible for G6PD deficiency in this area: one mutation is the cause of the G6PD Seattle-like phenotype, a milder form of G6PD deficiency; the other mutation is responsible for all forms of very severe G6PD deficiency in Sardinia and, possibly, in the Mediterranean.

Cloning, Molecular↗
PubMed1988

CpG islands of the X chromosome are gene associated.

Unmethylated CpG rich islands are a feature of vertebrate DNA: they are associated with housekeeping and many tissue specific genes. CpG islands on the active X chromosome of mammals are also unmethylated. However, islands on the inactive X chromosome are heavily methylated. We have identified a CpG island in the 5' region of the G6PD gene, and two islands forty Kb 3' from the G6PD gene, on the human X chromosome. Expression of the G6PD gene is associated with concordant demethylation of all three CpG islands. We have shown that one of the two islands is in the promoter region of a housekeeping gene, GdX. In this paper we show that the second CpG island is also associated with a gene, P3. The P3 gene has no homology to previously described genes. It is a single copy, 4 kb gene, conserved in evolution, and it has the features of a housekeeping two genes is within the CpG island and that sequences in the islands have promoter function.

Amino Acid Sequence↗
PubMed1988

A "housekeeping" gene on the X chromosome encodes a protein similar to ubiquitin.

An X chromosome gene located 40 kilobases downstream from the G6PD gene, at Xq28, was isolated and sequenced. This gene, which we named GdX, spans about 3.5 kilobases of genomic DNA. GdX is a single-copy gene, is conserved in evolution, and has the features of a "housekeeping" gene. At its 5' end, a cluster of CpG dinucleotides is methylated on the inactive X chromosome and unmethylated on the active X chromosome. The GdX gene can code for a 157 amino acid protein, GdX. Residues 1-74 of GdX show 43% identity to ubiquitin, a highly conserved 76 amino acid protein. The COOH-terminal moiety of GdX is characterized in its central part (residues 110-128) by a sequence homologous to the COOH-terminal hormonogenic site of thyroglobulin. The structural organization of the GdX protein suggests the existence of a family of genes, in addition to the ubiquitin gene, that could play specific roles in key cellular processes, possibly through protein-protein recognition.

Amino Acid Sequence↗
PubMed1988

[Treatment by nucleolysis using chymopapain of disk hernias of purely lumbalgic form].

16 patients suffering from a herniated disc with purely lumbalgic manifestations were treated with chymopapain nucleolysis. The results were very good in 5 cases, good in 6 cases and poor in 5 cases. These data, along with those scattered in the literature, led us to consider nucleolysis as a treatment, probably valid, of a herniated disc in its purely lumbalgic form.

Adult↗
PubMed1988

Isotypic distribution of anti-double-stranded DNA antibodies: a diagnostic evaluation by enzyme-linked immunosorbent assay.

Anti-native DNA antibodies were studied using an immunoglobulin class-specific enzyme-linked immunosorbent assay (ELISA) in 450 sera, virtually all of which were antinuclear antibody positive. ELISA was positive in about 85% of systemic lupus erythematosus (SLE) sera, usually at high titer and for two or three isotypes. Virtually all sera with antibodies of the three main classes were collected from SLE patients. Very high titers were unique to SLE. In contrast, low-titer antibodies of a single, mostly IgM, class were found in certain patients without evidence of autoimmune disease or with non-SLE autoimmune diseases. The isotypy and titer of the antibodies hence appear to be critical parameters for a correct interpretation of results. Under these conditions, ELISA seems to be usable as single screening test for the demonstration of anti-DNA antibodies.

Autoantibodies↗
PubMed1987

Hemodialysis is not essential for the development of destructive spondylarthropathy in patients with chronic renal failure.

Since 1984, there have been several reports of a destructive spondylarthropathy occurring in patients who have received hemodialysis over a long period of time. Two cases of a similar syndrome were observed in nonhemodialyzed patients with chronic renal failure, one of whom underwent a lumbar disc excision. The results of disc examination and of radiographic and biologic investigations prompted reconsideration of factors previously considered to be pathogenetic (amyloidosis, hydroxyapatite crystal deposition, aluminum toxicity), except one: secondary hyperparathyroidism.

Aged↗
PubMed1987

[Retrospective study of the possible role of injuries in the genesis of ankylosing spondylitis, Fiessinger-Leroy-Reiter syndrome and other reactive arthritis, unclassified B27 rheumatism in adults and chronic B27 arthritis in children].

If the revealing or aggravating effect of traumas is known in the course of ankylosing spondylarthritis, their etiological role is debatable. We have reviewed 370 files of patients with ankylosing spondylarthritis, 11 of which were mentioning a post-traumatic onset, without being able to find a single case which could satisfy irrefutably the criteria of imputability. It was the same for 51 cases of the Fiessinger Leroy Reiter syndrome 29 cases of reactional arthritis and 42 cases of unclassifiable Rheumatism HLA B27+, and all affections that could develop into an ankylozing spondylarthritis. On the contrary, in 53 cases of chronic juvenile arthritis HLA B27+, we found 5 cases which satisfied the criteria attributable to a trauma. The critical review of the literature also leads us to question the causal role of trauma in cases of ankylosing spondylarthritis and the Fiessinger Leroy Reiter syndrome where trauma is presented as such.

Adult↗