[Prenatal diagnosis of beta-thalassemia]. / Prenatal'naia diagnostika beta-talassemii.

Mass screening of married couples in the town of Baku has revealed a couple at risk of giving birth to a child with homozygotic beta-thalassemia. Prenatal diagnosis was carried out during week 23 of pregnancy by means of cordocentesis and biochemical analysis of globin chains, in vitro synthesized in fetal blood in the presence of labeled leucin. beta-thalassemia was detected in the fetus, similarly as in the child in this family. Abortion was induced on pregnancy week 25. Prenatal diagnosis is recommended in case of another pregnancy during the first trimester, involving analysis of the chorionic villi DNA.

[Use of 4-methylumbelliferryl-alpha-L-iduronide and 4-trifluoromethylumbelliferryl-alpha-L-iduronide for detecting alpha-L-iduronidase deficiencies in human tissue and for rapid prenatal diagnosis of Hurler disease]. / Ispol'zovanie 4-metilumbelliferil-alpha-L-iduronida i 4-triftormetil- umbelliferil-alpha-L-iduronida dlia vyiavleniia nedostatochnosti alpha-L-iduronidazy v tkaniakh cheloveka i dlia bystroi prenatalnoi diagnostiki bolezni gurler.

Activity of alpha-L-iduronidase was studied in leukocytes of healthy persons, of patients with Hurler disease and of heterozygous carriers of the disease where 4-methylumbelliferyl-alpha-L-iduronide and 4-trifluoromethylumbelliferyl-alpha-L-iduronide were used as substrates. 4-Trifluoromethylumbelliferyl-alpha-L-iduronide proved to be also a specific substrate of alpha-L-iduronidase and enabled to detect the enzyme deficiency in patients with Hurler disease as well as a decrease of the enzymatic activity in heterozygous carriers of the disease. Using these two substrates prenatal diagnosis of Hurler disease was carried out in fetus which exhibited absence of the enzymatic activity in cell culture from amniotic fluid. The diagnosis was corroborated after analysis of alpha-L-iduronidase activity in liver and kidney tissues of the fetus. 4-Trifluoromethylumbelliferyl-alpha-L-iduronide was very effective in express detection of alpha-L-iduronidase deficiency immediately in tissue slices as well as in placenta which is of importance in prenatal diagnosis of Hurler disease.

[The first case of prenatal diagnosis of sickle cell anemia in the USSR]. / Pervyi sluchai prenatal'noi diagnostiki serpovidnokletochnoi anemii v SSSR.

A married couple with a risk to have a child with sickle-cell anemia has been detected as a result of mass screening of pregnant women in Baku. The prenatal diagnosis was made on the 26th week of pregnancy by means of chordocentesis and biosynthesis of globin chains that revealed the absence of normal beta-globin chain synthesis in the presence of beta S. The diagnosis of sickle-cell anemia was confirmed after abortion in the fetal blood material obtained from the heart by isoelectro-focussing. The family has received a recommendation on the prenatal DNA-diagnosis in the first trimester on the next pregnancy.

[Prenatal diagnosis of triploidy by transabdominal aspiration of chorionic villi]. / Prenatal'naia diagnostika triploidii pri transabdominal'noi aspiratsii vorsin khoriona.

A case of triploidy identified in second trimester fetal diagnosis is presented. Cytogenetic study was undertaken in chorionic willi obtained by transabdominal placentocentesis. The diagnosis was confirmed by cytogenetic analysis of cultured amniotic fluid cells. The observation was revealed within a programme of combined ultrasound and cytogenetic prenatal monitoring, in association with maternal age. The fetus aborted at 23 weeks of pregnancy was abnormal, including congenital malformations and hypoplasia of internal organs and placenta.

[Syndrome of constant muscle fiber activity (Isaacs syndrome)]. / Sindrom postoiannoi aktivnosti myshechnykh volokon (sindrom Isaaksa).

Two cases with expressed signs of a permanent muscular tension in the extremities with fasciculation (the Isaacs syndrome) and difficulties in self-service are described. In both cases the diagnosis was verified by typical EEG changes and a good effect from the use of a diphenylhydantoin or finlepsin.

[Treatment of patients with different forms of myotonia with diphenin and novocainamide]. / Lechenie bolnykh s raznymi formami miotonii difeninom i novokainamidom

Patients with different forms of myotonia were treated by 2 preparations: novocainamide and Diphenine (diphenylhydantoin). Patients with Thomsen's myotonia (9 cases) and with atrophic myotonia (7 cases) were treated by novocainamide with a daily dosage of 0.75-1.5 gm during 3 weeks. A decrease of the myotonical contracture was more marked in patients with Thomsen's myotonia and was arrested following 2-3 days after its discontinuation. Treatment of patients with atrophic myotonic by novocaiamide was not feasible inasmuch as there were some contraindications for its use. In 9 cases of Thomsen's myotonia and in 5 with atrophic myotonia treatment was given by diphenine in daily dosages from 0.4-0.5 gm during 4 weeks. In 6 patients with Thomsen's myotonia and in 3 cases of atrophic myotonia there was a significant improvement. In 2 cases diphenine even in minimal doses lead to allergic reactions. No effect was marked in 3 cases. Diphenine appears to be effective in Thomsen's myotonia and in patients with atrophic myotonia with insignificant muscular atrophy. The effect after treatment lasted up to 4 weeks.