[[Epidemiological, Clinical and Genetic Characteristics of Anorectal Malformations (Review)].]

The review presents an analysis of current data on the epidemiology, etiology, clinical and genetic characteristics of congenital anorectal malformations (AM). According to international registers of congenital malformations prevalence of the AM varies from 2 to 5 per 10,000 births. There was no change in the prevalence over time of AM (absence of temporal trends). Most studies have indicated the predominance of males among patients with AM. Approximately 40 - 70% of patients with AM have congenital malformations of other organs and systems. The data on the participation of genetic and environmental factors in the origin of the AM. A brief clinical and genetic characteristics of the most common syndromes (association) with the AM.

[Genetic counseling in the Mental Health Research Center of the Russian Academy of Medical Sciences]. / Opyt mediko-geneticheskogo konsul'tirovaniia v Nauchnom tsentre psikhicheskogo zdorov'ia RAMN.

Current concepts on the role of genetic factors in the development of schizophrenia and on the relative risk for this disease and spectrum disorders are reviewed. An analysis of the results of genetic counseling of 120 subjects revealed that, comparing to other mental disorders, patients with schizophrenia or relatives, mostly those having a schizophrenic parent (40%) or spouse (25%), referred more frequently for a consultation. Most of the referrals (70%) had a high educational level. As it was found out during the counseling, up to 20% of the relatives met a diagnosis of psychiatric disorders, mostly personality disorder (9%) and depressive state (7%). Psychological testing with personality inventories revealed a high level of personality abnormalities (schizoid--22%, hyperthymic--16% and obsessive-anxiety--4%) in 43% close relatives of patients seeking medicogenetic advice. The genetic counseling featured by the use of the comprehensive approach, basing on all obtained data (psychiatric, psychological, neurophysiologic etc.), that increases its accuracy and may assist families in taking a reasonable decision in birth planning.

[Conception and implementation of the federal computer system for families with hereditary diseases]. / Kontseptsiia i realizatsiia federal'noi komp'iuternoi sistemy dlia semei s nasledstvennymi zabolevaniiami.

The Federal Genetic Register (FGR) is a multi-functional system. It will be realized in a form of a corporative network. The main goals of FGR are prophylactic medical examinations, support of a doctor's decision about a genetic risk in families with inherited diseases, monitoring of congenital anomalies and hereditary diseases, supply of data. The system is created using Microsoft Visual FoxPro 3.0 and Visual C++2.1. The operating system Windows NT will conform to that of interregional centers/consultation and Windows for Workgroup 3.11 or Windows'95 will conform to that of regional consultation.

[Analysis of the patient contingent at a specialized pediatric clinic]. / Analiz kontingenta bol'nykh detskoi spetsializirovannoi kliniki.

Clinico-syndromologic, cytogenetic and biochemical screening embraced 330 patients of a specialized pediatric clinic. Of all cases of diseases 78.8% were either fully or partially accounted for by hereditary factors: 54% chromosome-related syndromes, 5.2% monogenic syndromes, 3.6% nonclassified combinations of developmental anomalies 16% isolated congenital defects of development. Others (21.2%) displayed the organic CNS defects, embryo- and fetopathies due to environmental impacts. The study resulted in diagnosis changes in 6.7% of the cases and identification of 14 hereditary syndromes. The prevalence of hereditary pathology in the morbidity structure of this contingent strongly suggests the necessity of medical genetic consultation in their families.

[Population and familial incidence of orofacial anomalies considered microforms of cleft lip and palate]. / Populiatsionnye i semeinye chastoty oro-fatsial'nykh anomalii, rassmatrivaemykh kak mikropriznaki rasshchelin.

This paper presents the results and analysis of the distribution frequencies of orofacial features in a population and among the relatives of 325 probands with cleft lip and palate. Our results indicate that some of the features (diastema, nostril asymmetry and others) are more frequent in the relatives of children with clefting than in a general population. These studies suggest that several minor clinical conditions in parents may be important for medico-genetical consultations.

[Energetics of active carbohydrate transport into mycoplasma cells]. / Energetika aktivnogo transporta uglevodov v kletki mikoplazm.

Possible energy supply pathways of active transport of non-metabolized 3-O-methylglucose (3-O-mG) into Acholeplasma laidlawii cells are studied. 3-O-MG transport is sensitive to arsenate, inhibitors of glucolysis and membrane Mg-dependent ATPase (dicyclohexylcarbodiimide) and to uncoupling agents. It is suggested that glycolysis is the main energy source, which main enzymes are found in cell-free extracts. A. laidlawii cells are capable to glycolytic ATP synthesis using glucose as a substrate but not fructose, arginine and ethanol. ATP synthesis is also sensitive to arsenate and glycolytic inhibitors and is resistant to uncoupling agents, dicyclohexylcarbodiimide, valinomycin and nigericin. Probably, hydrolysis of glycolytic ATP by membrane-bound ATPase results in the formation on a membrane of both components of proton-motive force, which supply energy for the active 3-O-MG transport. It is supported with the data on the inhibitor analysis of transport using ionic-selecive antibiotics and lipid-soluble ions.