[Study of CATCH 22: genetic aspects]. / Geneticheskie aspekty izucheniia CATCH 22.

Introducing molecular genetic techniques into clinical practice has made it possible to detect del 22q11.2, an etiological factor for congenital cardiovascular diseases in CATCH 22. The authors' complex (clinical, syndromological, molecular genetic, and computed) approach to examining this group of syndromes has enabled patients at high risk for CATCH 22 to be identified. A list of gene candidates responsible for manifestations of CATCH 22 and data on how pathological phenotypes are developing in model objects are presented.

[Genomic imprinting and its role in Prader-Willi and Angelman syndromes]. / Genomnyi imprinting i sindromy Pradera-Villi i Endzhel'mena.

Published and our own data, included in the CHRODYS database, on the dependence of phenotypic abnormalities in mono-, di-, and trisomics at human chromosome 15 on its parental origin are reviewed. The concept is confirmed that Prader-Willi and Angelman syndromes result from the combined effect of gene or chromosome mutations impairing the expression of syndrome-specific genes and from genomic imprinting, i.e., repression of corresponding genes received from one of the parents.

[A method of tracing Schlemm's canal in the combined treatment of open-angle glaucoma]. / Sposob markirovki Shlemmova kanala pri kombinirovannom lechenii otkrytougol'noi glaukomy.

Tracing Schlemm's canal in the course of sinusotomy, added to multiple-modality treatment of open-angle glaucoma, helps improve the localization of the site of initially traced external wall of Schlemm's canal in gonioscopy and carry out laser trabeculopuncture at the site of the intervention with a lower level of laser energy, as well as reduce the possibility of complications and cicatrix of the trabecula and the adjacent tissues. A follow-up of 23 patients over 1.5 years has proved that the described intervention provides a good hypotensive effect and stabilization of the glaucomatous process in the overwhelming majority of patients.

[Subscleral removal of the anterior wall of the Schlemm's canal combined with subsequent laser trabecular puncture in the treatment of open-angle glaucoma]. / Subskleral'noe udalenie naruzhnoi stenki shlemmova kanala v sochetanii s posleduiushchei lazernoi trabekulopunkturoi v lechenii otkrytougol'noi glaukomy.

Subscleral removal of the external wall of Schlemm's canal followed by laser trabeculo-puncture provides retention exposure of the intrascleral and trabecular levels without resorting to eyeball opening; intraocular reduction after such operation is gradual. A follow-up of up to 5 years of 134 patients have demonstrated that such combined intervention is low traumatic and ensures a stable hypotensive effect and stabilization of the glaucomatous process in the overwhelming majority of patients.

[Computerized analysis in the study of multiple congenital defects connected with chromosome abnormalities: phenotype-karyotypic relations and genetic markers]. / Komp'iuternyi analiz v izuchenii mnozhestvennykh vrozhdennykh porokov razvitiia, sviazannykh s narusheniiami khromosom: fenokariotipicheskie vzaimootnosheniia i geneticheskie markery.

Computerized comparisons of phenotypes observed in different kinds of chromosomal imbalance and presented in the form of sparse matrices of traits were made to study the specificity of the indicated phenotypes, the possibility of differential diagnosis of the clinically similar forms, the presence of genetic markers, and the correspondence of the compared phenotypes to syndrome criteria. Stable enough, though variable trait associations characteristic of definite forms of imbalance of chromosomes 4, 5 and 9 were revealed, which were especially manifest when the respective trait frequency profiles were compared. Phenotypic distinction of 9p- and 11q-segmental monosomies was demonstrated and respective "phenotypic nuclei" were isolated. It has been shown that reliability of identification increases when the case to be analyzed is compared with a large enough number of primary descriptions. Analysis of 35 cases of 4p-segmental monosomies allowed the conclusion that Wolf-Hirschhorn syndrome is associated with deletion within 4 (p14-pter) region.

[A method of increasing the effectiveness of anti-glaucoma operations]. / O sposobe povysheniia éffektivnosti antiglaukomatoznykh operatsii.

The authors have proved the possibility to prevent cicatrization between scleral laminae after antiglaucoma surgery in 16 rat experiments. They analyze late and remote results of 341 surgeries for open-angle glaucoma, 52 of these traditional trabeculectomies and 289 trabeculectomies with placing hemostatic viscose under the scleral flap. The results evidence the efficacy of viscose application: the incidence of complications early after surgery and in the late periods was essentially reduced and a more stable hypotensive effect achieved. The method is simple and available.

[Approach to differential diagnosis of clinically related forms of chromosomal pathology using computers]. / Podkhody k differentsial'noi diagnostike klinicheski skhodnykh form khromosomnoi patologii s pomoshch'iu EVM.

Multiple congenital developmental abnormalities account for a considerable share in the structure of the childhood morbidity, mortality and disability. Still, the differential diagnosis of the above abnormalities presents considerable difficulties because of the diversity of the forms and genetic pleomorphism. Using the method of rarefied templates of the "case--description term" type tried previously, a study was made of the possibility of differentiating between the clinically related forms of the chromosomal pathology 9p- and 11q- on the basis of phenotypic differences. The template was made up of 40 cases of 9p- and 40 cases of 11q-, accounting for 720 traits altogether. The "phenotypic nuclei"--traits occurring at a rate of over 25% were revealed for each syndrome and compared. Two approaches to the differentiation between these syndromes were used, which may turn out instrumental for diagnosing the clinically related forms of multiple congenital developmental abnormalities of the non-chromosomal genesis. The potentialities and difficulties of the computer-aided differential diagnosis are under discussion.

[Phenotype and "critical segments" of chromosomes during partial aneuploidy for chromosome 4 in man]. / Fenotip i "kriticheskie segmenty" khromosom pri chastichnykh aneuploidiiakh po khromosome 4 u cheloveka.

Computerized analysis of sparse matrix, based on the list of involved organs, body parts, extremities, function etc. (total item number about 600) was performed for different cytogenetically identified anomalies of human chromosome 4 (35 cases of 4p-, 32 cases of 4p+, 39 cases of 4q-, 39 cases of 4q+; both published and original data were used). For each of the four types of partial aneusomy, 4 specific enough groups of traits were revealed which had been found in 50% of respective patients, at least. Such "nuclei" of traits were highly similar to those given in comprehensive modern manuals. However, 4p- and 4q- could only be classified as strictly enough delineated chromosomal syndromes. The 4(p14-pter) region was found to be the most likely crucial segment for the Wolf-Hirschhorn syndrome.

[Functional disorders of the cardiovascular system in patients with acute suppurative puerperal mastitis]. / Narusheniia funktsii serdechno-sosudistoi sistemy u bol'nykh s ostrym gnoinym poslerodovym mastitom.

On 82 patients with suppurative puerperal mastitis, in 25 (30.5%) the disorders in function of the cardiovascular system were revealed. The disorders directly depended on the severity of the disease. After the therapy carried out with inclusion of the drugs improving myocardial metabolism, in repeated ECG, the significant positive dynamics was noted.

[Clinical polymorphism in amenorrhea of chromosomal and nonchromosomal etiologies]. / Izuchenie klinicheskogo polimorfizma amenorei khromosomnoi i nekhromosomnoi étiologii.

In search of the basis of distinguishing amenorrhea, due to chromosomal mosaicism and other causes, 179 females affected by primary or secondary amenorrhea were examined, 83 of them being 45,X/46,XX mosaics. 119 traits characterizing the morphological status of the musculoskeletal and reproductive systems, as well as skin, hair and nails were scored. By means of statistical approaches, a group of 21 traits were specified, which makes it possible to diagnose the amenorrhea of chromosomal origin. Statistically significant association between the clinical manifestations and the rate of mosaicism was shown.

[Effect of actinomycin D on development of the ocular imaginal disks of drosophila]. / Deistvie aktinomitsina D na razvitie glaznykh imaginal'nykh diskov drozofily.

The actinomycin D treated discs were transplanted into imago or larvae ready for pupation to determine the period of synthesis of mRNA's engaged in eye development during the development of eye imaginal discs. When transplanting 24, 48 and 72 hrs eye imaginal discs into larvae ready for pupation, no inhibition of either eye pigment synthesis, or cuticular structure development by actinomycin D was found. When transplanting actinomycin D treated 72 hrs and prepupal eye imaginal discs into imago, the inhibition of eye pigment synthesis was found only in 72 hrs discs.