Biomedical subjects
Publications and source records attributed to M Gaál.
The systemic mastocytosis is a rare disorder, however, the authors recently diagnosed two cases causing diagnostic problems. The diagnosis was proved by bone marrow biopsy in both patients. The authors review the diagnostic pathway considering the pitfalls. According to their conclusion, the most important factor in the diagnosis of systemic mastocytosis is to think of the possibility of systemic mastocytosis.
Authors deal with a characteristic and frequent sport damage, not yet described in the professional literature of this country. The Syndrome "Jumper's knee" is a collective term comprising the insertiopathies in the knee region, developed in consequence of the overuse of the extensors. During 6 years 385 patients were treated for this problem at the National Institute for Sport Medicine, Department of Sport Surgery and operations were performed in 47 cases. The average age of the patients was 18.9 years, of the patients operated 23.4 years. The most frequent sports were: basket-ball, volley-ball, athletic jumping. Authors stress the importance of ultrasound examination in this disease, otherwise poor in symptoms. The conservative treatment was carried out according to clinical stages and its results are better in early stages, the interval to return to sport was also shorter. The operative procedure was the resection of the apex patellae with the degenerated part of the tendon, having its origin here. Based on 32 control examinations the results can be considered as good and the authors stress the importance of the exact operative indication and the time-sparing technique. Beside describing the possibilities of the prophylaxis authors think the adequate information given to sportsmen and the trainers essential.
Thirty-five of 50 patients with different hip joint disease had sonographic evidence of joint effusion. Arthrocentesis confirmed effusions in 30 of these 35 patients. Thirty-two of the 35 patients had nocturnal pain. Both nocturnal pain and sonographic evidence of effusion decreased after aspiration (15 patients) and aspiration and injection of corticosteroids (15 patients). In a further group of 61 patients who subsequently had Charnley arthroplasties, 35 had positive sonograms before operation. Of these, 25 had effusions confirmed at operation, the remaining 10 having synovitis and capsule thickening. Again a correlation was found with nocturnal pain. The sensitivity of sonography in detecting hip joint effusion was 92% with a specificity of 70%. Nocturnal pain had a lower sensitivity, 85%, but higher specificity, 94%.
Interleukin 6 (IL-6), a multifunctional cytokine particularly active in regulation of the acute phase response, governs the terminal maturation of B lymphocytes and participates in early activation of T cells. IL-6 levels of synovial fluids of 153 patients with different arthritides were measured by a simple sandwich enzyme immunoassay. Highest IL-6 concentrations were detected in patients with rheumatoid arthritis (RA), particularly in those characterized by very active general symptoms and severe joint pain. High IL-6 levels were detected in patients with juvenile RA with polyarticular onset of disease and in gout. Corresponding to the suggested in vivo relevance of IL-6, dose correlation of IL-6 levels with the synovial IgM rheumatoid factor accumulation was demonstrated. The rate of the correlation between synovial IL-6 level and concentration of serum C-reactive protein in RA was inversely proportional to the dose of steroid treatment in patients with RA.
The occurrence of endometriosis in streak gonad syndrome is extremely rare and to our knowledge, our patient is only the 4th case reported so far. Since hormonal replacement is important for patients with ovarian failure, the surgical approach is suggested as the treatment of choice for endometriosis in streak gonad syndrome.
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The authors have investigated the possibilities of obtaining chorionic villi from legal pregnancy termination patients between the 7th and 11th week and the method of direct chromosome preparation from the villi as well. According to their investigations under continuous "real time" ultrasound guidance and with the immediate microscopic checking of the obtained material it is possible to receive chorionic villi of necessary quantity in nearly 100% of the cases, and after 2 or 3 hours the evaluation in a great deal of mitosis of good quality can be carried out. The method may revolutionize the prenatal (fetal) diagnosis, but its routine application may not be proposed until the rate of fetal risk is exactly known.
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This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possessed the deleted chromosome 21. Our case supports the idea that minor chromosome aberrations may increase the inclination for the development of unbalanced recombinant offsprings.
Cytogenetic studies were carried out on 118 couples with recurrent spontaneous abortions. Four major chromosomal abnormalities were found including two 13/14 Robertsonian translocations, one t(7;12) and one t(1;10) reciprocal translocation. The incidence of chromosomal abnormalities in this study was 3.39%, which is lower than the mean value of the published data. The clinical significance of balanced translocations in recurrent reproductive loss is discussed.
A case of 44,X streak gonad syndrome combined with familial balanced 13/14 translocation is described. To our knowledge this is the second report on the combination of X monosomy and autosomal translocation. There was no convincing evidence of an interchromosomal effect in the present case.
Cytogenetic investigation of a healthy couple with 4 spontaneous abortions revealed a pericentric inversion of the Y chromosome. The same abnormality was found in three other members of the family. All of them have normal children without fetal wastage. This finding suggests that the pericentric inversion of the Y chromosome affects neither the phenotype nor reproductive performance.
We report on two sisters with Perrault's syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They were deaf-mute and of normal height with a few minor somatic anomalies. Both had streak gonads and an apparently normal female 46,XX chromosome constitution. The parents were apparently not consanguineous. The mother had normal hearing. Other relatives were not available for study. Epilepsy, which occurred in three relatives including one of the index patients, may have been inherited coincidentally from the mother's family.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.