Family case of Potocki-Lupski syndrome.

BACKGROUND: Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging. CASE PRESENTATION: We report here a family (mother and her two children) diagnosed with PTLS. When examining children, neurological and psychological (neuropsychiatric) manifestations (speech delay, mild mental retardation), motor disorders, craniofacial dysmorphism (microcephaly, dolichocephaly, triangular face, wide bulging forehead, long chin, antimongoloid slant, "elfin" ears) were revealed. The suspected clinical diagnosis was confirmed by MLPA and CMA molecular genetic testing which revealed the presence of a segmental aneusomy; microduplication in the 17p11.2 region. CONCLUSIONS: Children with PTLS can have a clinically recognizable and specific phenotype: craniofacial dysmorphism, motor and neurological manifestations, which may implicate a possible genetic disease to the attending physician. Moreover, each child with this syndrome is unique and may have a different clinical picture. The management of such patients requires a multidisciplinary team approach, including medical genetic counseling.

[The regional experience of implementation of program of prevention of abortions with non-medical indications].

The unfavorable demographic situation in the Russian Federation determines need of developing medical, organizational and social technologies for preventing abortions because of non-medical reasons. The purpose of the study was to analyze consensus opinion of physicians about reasons women refusing to continue pregnancy, to establish directions of preventing abortions and to evaluate efficiency of the Municipal Competition "Life is sacred gift", the initiative of the All-Russian Program "Sanctity of Motherhood". The study applied such sociological technique as questionnaire survey of 20 obstetricians gynecologists about causes of miscarriage and main directions of prevention of abortion. The analysis was implemented of dynamics of rate of abortions during last 5 years before the introduction of innovative program of prevention of abortion with participation of physicians, psychologists, representatives of public and religious organizations in the form of the competition "Life is sacred gift" (2006-2010) and in program implementation (2012 -2016 GG.) Also were applied the concordance technique, the Fisher's angular transform and rank correlation. The consistency of opinions of physicians about place of lacking of knowledge about risks of abortion and reproductive health in woman decision making about abortion (W = 0.32; χ² = 44.8; p<0.001), about motivation of preserving pregnancy as the main focus on non-medical abortion prevention (W = 0.33; χ² = 33.3; p<0.001). The implementation of innovation program permitted to increase percentage of women who refused abortion from 3.3% to 17.5% (p<0.01), to reduce number of non-medical abortions from 37.9 to 16.9 per 100 births, and from 17,5 to 10.5 per 1000 women of fertile age (p<0.01). The implementation of innovative program increases effectiveness of standard interventions to prevent abortions.

Fluorescence in situ hybridization analysis of hobo, mdg1 and Dm412 transposable elements reveals genomic instability following the Drosophila melanogaster genome sequencing.

The genome of Drosophila melanogaster strain y cn bw sp has been sequenced and the transposable elements insertion sites have been determined. We hybridized fluorescence-labeled probes directed to the hobo transposon, Dm412 and mdg1 retrotransposons to polytene chromosomes and compared the observed sites to those published in the annotated genome sequence. We observed an almost twofold increase in the number of hobo hybridization sites (46 found as compared to 24 annotated sites). There was no evidence that the hobo transposition rate is slowing over the 10-year period. The patterns of Dm412 and mdg1 sites have changed less dramatically since the time of genome sequencing. Three novel Dm412 hybridization sites were detected while 4 out of 30 annotated sites were missing. Only one additional mdg1 site was found, while 1 out of 29 annotated sites has been lost.

[Persistent locus-specific instability of yellow(27-717) and Noth(Uc-1) in Drosophila melanogaster coincides with hobo multiplication].

According to FISH data the presence of multiple hobo element copies in the unstable yellow and Notch loci in y(2-717) and Uc-1 Drosophila melanogaster stocks, respectively, was found. Locus-specific instability in these strains is caused by hobo multiplication in the respective loci and its subsequent recombination with neighboring hobo copies rather than its insertion-excision.

[Behavior of hobo and P transposons in yellow2-717 unstable line of Drosophila melanogaster and its derivatives after crossing with a laboratory strain].

Using fluorescent in situ hybridization technique (FISH), the frequency of hobo and P mobile elements transpositions on X chromosomes from the y2-717, isolated from the Uman' population of Drosophila melanogaster, as well as from its phenotypically normal and mutant derivatives, obtained as a result of crosses the males examined with the C(I)DX, ywf/Y females, was evaluated. It was demonstrated that the maximum frequency of hobo transpositions on X chromosomes of the males from derivative strains, subjected to repeated hobo-dysgenic crosses reached a value of 1.2 x 10(-2) per site per X chromosome per generation. The number of hobo copies in male X chromosomes from derivative strains was 3 times higher than in the original initial strain. Furthermore, the "old" hobo sites remained unchanged. In derivative strains, the frequency of hobo insertions was higher than that of excisions. One of the derivative strains, y1t-717alk3-2, was characterized by high intra-strain instability of hobo element localization. In the y2-717a1k3 and y1t-717alk3-2 strains a large inversion, In(1)1B; 13CD, was described. At the absence of the full-sized P element in the strains involved in crosses, maximum frequency of P element transpositions in the derivative strains reached a value of 1.2 x 10(-2) per site per X chromosome per generation.

[The effect of gamma-radiation on induction of the hobo element transposition in Drosophila melanogaster].

The transposition frequency of the hobo mobile element in four successive generations of Drosophila melanogaster strain y2-717 after an acute gamma-irradiation with a dose of 30 Gr amounted to 7.5 x 10(-4) per site per genome per generation. Under the same conditions, PCR analysis of the genomic DNA of y2-717 flies detected new variants of defective hobo sequence. No changes in the hobo localization and PCR products compared with the control were detected in the case of single irradiation with doses of 3 and 30 Gr. The localizations of hobo element on polytene chromosomes of y2-717 strain did not change during 11 generations after five exposures of flies to 30 Gr. Irradiation of a highly unstable D. melanogaster strain y+743 did not increase the number of families with mutant progeny, yet increased the total number of mutant descendants almost twofold, from 5 to 9%.

[Transposition of the hobo element in Drosophila melanogaster somatic cells].

Somatic mutation and recombination test on wing cells of Drosophila melanogaster showed that the recombination frequency in the somatic tissues of strains studied correlated with the presence of a full-length copy of the hobo transposable element in the genome. Transposition of hobo in somatic tissue cells at a frequency 3.5 x 10-2 per site per X chromosome was shown by fluorescence in situ hybridization with salivary gland polytene chromosomes of larvae of one of the D. melanogaster strains having a full-length hobo copy.

[Structural-functional changes in erythrocyte membranes in bovine lympholeukemia]. / Strukturno-funktsional'nye izmeneniia membran éritrotsitov pri limfoleikoze u korov.

The condition of lipid peroxidation and activity of enzymes of protective glutathione-dependent anti-oxidation system of erythrocytes: glutathione peroxidase (GSH-P) and glutathione reductase (GSH-R) in cows with leukosis has been studied. The decrease of the level of MDA and GSH-R activity was accompanied by GSH-P activation depending on the stage disease. The considerable lowering of Ca2+ transport to erythrocytes was shown on hematological stage of leucosis. The qualitative composition of membrane proteins does not change according to gel electrophoresis data. But the quantity of main cytoskeleton protein, spectrin, increases in the "white shadows" of erythrocytes in the animals with leucosis.

[Changes in surface-active properties of the lung after injection of isolated pancreatic islets into the pulmonary bed]. / Izmenenie poverkhnosto-aktivnykh svoistv legkikh posle vvedeniia izolirovannykh pankreaticheskikh ostrovkov v legkoe sosudistoe ruslo.

Injection of isolated pancreatic islets into the pulmonary vascular bed of rats was attended by increase of the insulin level on the 3rd and 7th day without changes of glycemia. The surface-active properties of the lung wash increased in this case, which is evidence of activation of secretion of the lung surfactant. The intracellular stores of the surfactant were not exhausted.

[Registration of a diagnosis in complications of surgical treatment of diseases of the lungs and heart]. / Oformlenie diagnoza pri oslozhneniiakh khirurgicheskogo lecheniia zabolevanii legkikh i serdtsa.

Autopsy findings (160 deceased patients) were assessed clinically and anatomically. Lethal outcomes occurred after surgical treatment of the lungs and heart. Postoperative complications in the absence of a pathological relation to the primary pathology or its adverse effects were considered in diagnosis documents as an equivalent of a nosological unit, i. e. iatrogenic "secondary" diseases. These conditions resulted either from adequate surgical interventions (78.1% of cases) or were attributed to technical and strategical errors (21.9% of cases). Unification of the complications associated with pulmonary and cardiac surgery implies use of the fundamentals of the "secondary" diseases theory and International Classification of Diseases (the 9th revision).