Effect of Avemar--a fermented wheat germ extract--on rheumatoid arthritis. Preliminary data.

OBJECTIVE: To investigate the effect of the fermented wheat germ extract (Avemar)in patients with severe rheumatoid arthritis (RA). METHODS: Fifteen female RA (Steinbrocker II-III) patients, who had unsuccessfully tried two different DMARD treatments, were enrolled in an open-label, 1-year long, pilot clinical study. DMARD and steroid therapies were recorded and continued. All patients received Avemar as additional therapy. For measurement of efficacy the Ritchie Index, the Health Assessment Questionnaire (HAQ) and the assessment of morning stiffness were applied. Patients were evaluated at baseline, 6 and 12 months. For statistical analyses the Wilcoxon test was used. RESULTS: At both 6 and 12 months, Ritchie index, HAQ and morning stiffness showed significant improvements compared with the baseline values. Dosages of steroids could be reduced in about half of the patients. No side effects of Avemar were observed. CONCLUSION: Supplementation of standard therapies with a continuous administration of Avemar is beneficial for RA patients.

Perrault's syndrome in two sisters.

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.

Comparative cytogenetical and morphological studies in ovarian dysgenesis.

In 14 cases of the Turner syndrome and pure gonadal dysgenesis streak gonads were studied histologically. In cases where the 46,XX line was unimpaired the blood vessels of the gonad showed severe degeneration in at least 30 to 50%. These streak gonads usually contained some of the characteristic ovarian elements as well as the vascular lesions. In gonosomal monosomy, on the other hand, a similar intensive vascular degeneration could not be found and the gonad consisted of indeterminate connective tissue. These observations are strong indications of a close correlation between karyotype and the histology of the streak gonad, which may supply further information on the manner and timing of the development of the streak gonad.

[Systemic mastocytosis]. / Systemás mastocytosis.

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.

X inactivation pattern in an unbalanced X-autosome translocation with gonadal dysgenesis.

An unbalanced X-autosome translocation was observed in a patient with primary amenorrhea, Turner phenotype and bilateral streak gonads. The karyotype of the proposita was 45,X,-X,+der(6),t(X;6). Autoradiography and BUDR pretreatment revealed differential inactivation of the X chromosomes. Sex chromatin pattern was in good agreement with the types of the X inactivation. Our finding brings out some further questions regarding inactivation of the human X chromosome and the human X chromosome and the related phenotypical changes.

[Placental vascular changes in maternal diabetes mellitus]. / Placenta érelváltozások anyai diabetes mellitusban.

Uniform pathological changes characteristic for the diabetes mellitus in the placenta were not revealed. In 63 per cent of the 22 cases morphological changes in the small- and middle vessels were observed. The most severe pathological changes were seen in the media in form of concentric fibrosis. It caused narrowing of the lumen, although the intima remained undamaged. It was not possible to detect a correlation between the severity of damage to the placentar vessels and groups described by White.

Clinical and morphological studies in streptozotocin diabetic pregnant rats.

Diabetes was induced in pregnant rats by administration of streptozotocin and the changes of the feto-placental unit were investigated. Dead fetuses were found in 12% of the untreated diabetic animals. In comparison to the controls, the fetal weights were significantly smaller and placental weights greater in diabetic animals. The changes were clearly characterized by the ratio fetal placental weight. Edema and cystic degeneration were characteristic of insulin treated diabetic placentas while fibrosis and ischemia were observed mainly in untreated animals. Insulin treatment resulted in hemorrhages and necrosis in the placenta of normal pregnant rats; the change is ascribed to hypoglycaemia.

Familial pericentric inversion of the Y chromosome.

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.

[The so-called pure gonadal dysgenesis (author's transl)]. / Zur Frage der sogenannten reinen Gonadendysgenesie

4 cases of pure gonadal dysgenesis are reported, their phenotype, karyotype and the histology of the rudimentary gonads are described. There were 3 cases with a 46/XY-karyotype and 1 case with a 46/XX/45/X-karotype. In the 2 cases with a 46/XY-karyotype gonadal dysgenesis, a gonadoblastoma was found. It is therefore recommended that the rudimentary gonads should be removed in cases of pure gonadal dysgenesis of the XY-type.

Chromosome studies in ovarian hypoplasia.

Six phenotypic female patients characterized by an average stature, infantile body constitution, underdeveloped external and internal reproductive organs and secondary sex characteristics and amenorrhoea are described. In each of them laparotomy and histological study disclosed ovarian hypoplasia. The karyotype was 46,XX in all patients except one. However, the metaphase analysis extending over a greater than usual number of cells revealed an autosomal ring (15) in 5 to 26% of cells. The patients also showed phenotype signs of D chromosome anomalies. The authors agree with the previously suggested autosomal gene effect in sex differentiation.

46,XY pure gonadal dysgenesis with non-fluorescent Y chromosome.

A 46,XY karyotype with a non-fluorescent Y chromosome was found in an infantile girl aged 16 with primary amenorrhea. Identification of the Y chromosome was made by different staining techniques and a photometric scanning method. The histology of the streak gonad also indicated the Y character of the chromosome. The authors' interpretation is a 46,XY pure gonadal dysgenesis with a non-fluorescent Y chromosome.

Nonmosaic 46,X,r(Y) karyotype with female phenotype.

A nonmosaic case of ring Y chromosome is described. The patient is phenotypically female and has streak gonads. The histologic examination revealed dysgenetic seminiferous tubules in the streaks and epididymislike tubules besides them. The possibilities of the development of the phenotype and the streaks are discussed.