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Biomedical subjects

R Saura

Publications and source records attributed to R Saura.

14 recordsLinked to original sources

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

A two month-old girl was diagnosed as a case of Rubinstein-Taybi syndrome (RTS) on typical facial dysmorphism, broad and duplicated distal phalanges of thumbs and halluces, growth retardation and psychomotor development delay. Chromosome analysis demonstrated a de novo pericentric inversion of one chromosome 16: 46,XX,inv(16)(p13.3;q13). This association confirms assignment of a locus for RTS gene to 16p13.3, as two others translocations involving the same breakpoint have already been reported.

Chromosome Banding

Damage of cultured chondrocytes by hydrogen peroxide derived from polymorphonuclear leukocytes: a possible mechanism of cartilage degradation.

To study the mechanisms of chondrocyte damage, chondrocyte cytotoxicity as shown by chromium-51 release induced by polymorphonuclear leukocytes (PMNLs) was examined. PMNLs significantly enhanced chondrocyte cytotoxicity in the presence of phorbol dibutyrate. This chondrocyte damage was abolished by the addition of catalase, whereas superoxide dismutase and scavengers of hydroxyl radicals and protease inhibitors failed to reverse it. When cartilage matrix components such as hyaluronic acid and various proteoglycans were added to the PMNL-chondrocyte cultures, these components failed to affect the chromium-51 release. These results suggest that the increase in chondrocyte cytotoxicity is due to hydrogen peroxide generated by the PMNLs, and that cartilage matrix components do not prevent it. Hydrogen peroxide from PMNLs may therefore play an important role in cartilage degradation through direct damage of chondrocytes during inflammatory process.

Animals

Solitary paralysis of the triceps muscle due to trauma.

We report a rare solitary paralysis of the triceps muscle. The patient, an 18-year-old man who had had a work-related accident, sustained a severe contusion of the proximal posterolateral arm after being struck by a piece of lumber. This injury produced an extraordinary amount of soft-tissue swelling in the region of the trauma. After the accident it was noted that active flexion of the elbow was preserved, but active extension was absent. Three months after injury, surgical exploration of the radial nerve and its rami musculares to the three heads of the triceps muscle was undertaken. Dense adhesions were found fixing the rami musculares to the surfaces of the triceps muscle. Neurolysis of the rami musculares was performed, leading to complete recovery of the triceps muscle. The etiology of this isolated paralysis of the triceps muscle was determined to be dense adhesions compressing and compromising the function of the rami musculares to the three heads of the triceps muscle. These adhesions formed because of severe posttraumatic bleeding into the potential posterior humeral space, where the rami musculares are found.

Accidents, Occupational

[Mutilans type of rheumatoid arthritis].

In order to investigate the clinical and pathological features of arthritis mutilans, the clinical history, activity of inflammation, histological findings and treatment have been studied on the basis of follow-up of rheumatoid arthritis (RA) patients with arthritis mutilans. A high incidence of arthritis mutilans was observed in rheumatoid patients who have a younger onset, longer history and higher activity of RA without specific pathophysiological features. Joint destruction may further progress in arthritis mutilans despite intensive treatment with disease modifying anti-rheumatic drugs (DMARDs), and multi-joint replacement may be required in the patients with this type of arthritis.

Adolescent

[Chorionic villi sampling and prenatal diagnosis].

The authors report their experience of 790 villous specimens taken either early (for 430 cases) or late (360 cases) between 10 and 37 weeks of amenorrhea (WA) using a transabdominal syringe. In the early choriocentesis cases, they conclude that use of the transabdominal route after 12.5 WA, regardless of the position of the chorion, makes it possible significantly to reduce the rate of fetal loss which becomes similar to that for amniocentesis. Placentocentesis has been used at later stages, either for high-risk couples as an alternative to amniocentesis (183 cases), or in cases of ultrasound abnormalities (177 cases) as an alternative to amniocentesis or cordocentesis. Placentocentesis makes it possible to obtain the fetal karyotype very rapidly within 1 to 2 days.

Abortion, Spontaneous

Cytokine enhancement of monocyte/synovial cell attachment to the surface of cartilage: a possible trigger of pannus formation in arthritis.

When rheumatoid articular cartilage samples were incubated with normal peripheral blood monocytes and cultured synovial cells in the presence of recombinant human interleukin-1 (IL-1) in vitro, large numbers of monocytes were seen to be attached to the articular surface. Significant numbers of monocytes invaded the cartilage tissue when the rheumatoid cartilage samples were pre-incubated with 10 U/ml of IL-1. Considerable numbers of monocytes were also attached to normal cartilage when these were pre-incubated with IL-1. It is of interest that recombinant human gamma interferon (gamma-IFN) did not enhance monocyte attachment. However, there was a significantly greater attachment of monocytes to rheumatoid than to normal cartilage. When normal cartilage was exposed to collagenase and then incubated with monocytes or synovial cells in the presence of 10 U/ml of IL-1, large numbers of cells were attached to the natural cartilage surface but not to the cut surface. These phenomena were much more intense when the rheumatoid cartilage was pre-incubated with collagenase. These results indicate that increased levels of IL-1 in the rheumatoid joint may play an important role in joint destruction by stimulation of pannus formation by inducing synovial cell attachment to the articular surface.

Arthritis, Rheumatoid

Interactions of immunoglobulins and chondrocytes.

Our study relates to damage of articular cartilage by deposition of immune complexes. Addition of IgG to cultured chondrocytes affected their metabolism--boosting metalloprotease synthesis, generating superoxide anion (O2-), and reducing the synthesis of sulfated glycosaminoglycans (S-GAG). Heat aggregation of the IgG enhanced its effect on O2- and S-GAG. Some interleukin 1 beta (38 pg/ml) was detected by ELISA after exposure to heat aggregated IgG. There was no cytotoxic effect due to IgG alone, but addition of complement (5% bovine serum) caused significant loss of intracellular 51Cr, which was further increased by addition of heat aggregated IgG. Similar responses of chondrocytes in vivo might account for immune complex mediated damage of cartilage.

Animals

[Evaluation of the risks of transabdominal chorionic villus sampling. 600 cases].

The authors report their experience with fine needle chorionic villus sampling carried out transabdominally. Six hundred antenatal karyotype diagnoses were made using this method. The indications were: maternal age: 509 (85%), previous chromosomal abnormalities: 57 (9.5%), parental chromosomal abnormalities: 19 (3%), X chromosome linked diseases: 9 (1.5%), others: 6 (1%). The patients were divided into two groups according as to whether the test was carried out before or after 12 weeks of amenorrhea (Group 1 and Group 2). Each group was divided into two sub-groups according to whether the amniotic membranes were broken or not. The test was carried out using a 20 gauge needle under ultrasound control with a to-and-fro movement using continuous aspiration. The success rate was 98.4%. Minor complications were rare. Contractions 9 (1.5%), spotting 4 (0.6%), small haematomas 13 (2.1%), loss of amniotic fluid 4 (0.6%). The level of unintentional abortions depended on the duration of the pregnancy and whether the amniotic cavity or not was entered. In group 1 (before or at 12 weak amenorrhea) there were 2 abortions out of 124 cases (1.6%) and if the needle entered the amniotic cavity 10 out of 57 cases (17.5%). In group 2 (after 12 weeks of amenorrhea) there was no ill effect from going into the amniotic cavity to the rest of the pregnancy. The abortion rates was 6 out of 419 (1.43%). There were no false positive or negative results.(ABSTRACT TRUNCATED AT 250 WORDS)

Abdomen

Long-term results of posterior release surgery for severe flexion contracture of the knee in patients with rheumatoid arthritis.

Twelve knees in nine rheumatoid patients with severe flexion contractures were evaluated clinically and roentgenographically for an average of 17.2 years (range, six to 25 years) after posterior release surgery. Preoperatively, the average extension in the 12 knees was 42.5 degrees, and postoperatively it was 10.8 degrees. Even though patients were able to walk postoperatively, the majority had knee pain when they extended their knees soon after surgery. Seven knees required further surgery after correction of the flexion deformity. The average time before reconstructive surgery after posterior release was 11.1 months. In the treatment of severe flexion deformities of the knee in patients with rheumatoid arthritis, posterior release surgery was effective only in correcting the deformity. Posterior subluxation of the tibia, knee pain, and instability occurred soon after surgery. Therefore, patients may require additional reconstructive surgery soon after the posterior release.

Adolescent

[Chickenpox].

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Chickenpox