[The relationship of HLA antigens to certain clinical forms of diabetes mellitus]. / Vurkhu vruzkata na HLA antigenite s niakoi klinichni formi na zakharniia diabet.

In 79 diabetic patients, 37 patients with diabetes mellitus type I and 42 patients with diabetes mellitus type II, the HLA-A, B and DR antigens were examined. An association of diabetes mellitus type I with HLA-B8, DR3 and DR4 was found. For the first time a relation between diabetes mellitus type I and HLA-B21 antigen was established. The early onset of the disease and the exhaustion of the endogenic insulin secretion are linked with B8 and DR3 carrier state while the late manifestations of diabetes mellitus and the preservation of one's own insulin production correlate with antigen B21. In the patients with diabetes mellitus Type II the frequency of antigen B21 and DR1 is increased and the carriers of B21 develop in the course of the disease relative insulin insufficiency and a secondary resistance toward sulfanilurea drugs.

High-resolution chromosome analysis in retinoblastoma.

Peripheral blood chromosomes of 13 patients with retinoblastoma and of their 20 first degree relatives were examined. In three of them chromosomal aberrations were found. Chromosomal anomalies were revealed in one case the patient's father only (the child died and the examination could not be performed) [del(13)(q12.11-q12.13)] and in another case both in the patient [t(13;14)] and in the father as well. This data support the view that some cases of retinoblastoma are closely linked to chromosomal rearrangements in the parental karyotype.

Deletion of 13q12.1 in a child with Coats disease.

Cytogenetic study of a child with the presumed clinical diagnosis of retinoblastoma of the right eye revealed del. 13q12.1. Histological examination of the removed eye showed changes which were characteristic of Coats disease. This finding is discussed.

Reproductive failure in a carrier of inv dupl l(q21.4----q12).

High resolution analysis of the early metaphase and prometaphase chromosomes of the father of a child with malformations and mental retardation revealed inv dupl l(q21.4----q12). Almost the same was the aberration in the propositus but with a deletion of the band lq11.2 : 46,XX, inv dupl l(q21.4----q12)del lq11.2. This suggested that the malformations and mental retardation in the child were probably due to the microchromosome anomaly in the euchromatin, connected with the heterochromatin block in the father.

Olfactory, auditory, and gustatory function in patients with bonadal dysgenesis.

The olfactory, auditory, and gustatory functions of 20 women with gonadal dysgenesis were studied. Various abnormalities of these functions were found, and they occurred principally in patients with mosaicism of the sex chromosomes. This is further evidence of the increased likelihood of various somatic abnormalities among women with gonadal dysgenesis, and particularly among those who carry more than one line of sex chromosomes.

[The functional state of the adrenal cortex in patients with gonadal dysgenesis and a female phenotype]. / Funksional'noe sostoianie kory nadpochechnikov u bol'nykh gonadnoi disgeneziei s zhenskim fenotipom

Excretion of 17-KS and 17-OCS was studied in the urine of 86 patients with various cytogenetic variants of gonad dysgenesis of a female phenotype under basic conditions and after ACTH stimulation; in 10 patients endogenous hypophyseal ACTH reserve after block of the adrenal cortex by metopyrone was investigated as well. A conclusion was drawn on the presence in these patients of differnet types of deviations of the adrenal gland function. In some of the cases there is a primary "global" or dissociated injury of the adrenal cortex, apparently directly associated with gonosome anomaly; in other cases--with disturbed regulation of ACTH secretion.

[Dermatoglyphic studies in cases of the Meyer-Rokitansky-Kuster-Hauser syndrome]. / Etudes dermatoglyphiques dans le syndrome de Meyer-Rokitansky-Kuster-Hauser.

A group of patients suffering from the Meyer-Rokitansky-Kuster-Hauser syndrome were examined by dermatoglyphic methods. The results were compared with those obtained by examining a control group of healthy men and women. The dermatoglyphic studies revealed a pronounced influence of the X chromosome and the presence of a sex chromosome mosaicism with three or more X chromosomes, a finding that agrees with the results of cytological and chromosome analyses. The evidence of these dermatoglyphic studies strongly supports the hypothesis indicating a genetic origin of the disorder. The relation between the genetically active and the genetically inactive chromatin masses is discussed and the authors propose that deviations from normal embryogenesis are the result of deviations from the optimum proportions.