КЛИНИКО-ГЕНЕТИЧЕСКИЕ ОСОБЕННОСТИ БОЛЕЗНИ НИМАННА–ПИКА, ТИП С

Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending on the onset age, several clinical forms of this disease, which differs by manifestation age, main clinical signs and clinical course, are distinguished. Niemann-Pick disease type C can imitate other hereditary and acquired diseases, which complicates its early diagnostics. Clinical and genetic diversity of this disorder, considered on the clinical cases diagnosed at the FSI «RCMG» of RAMS, are discussed in this review.Болезнь Ниманна–Пика, тип С — редкое наследственное заболевание из класса лизосомных болезней накопления, обусловленное мутациями в генах NPC1 или NPC2. В зависимости от времени начала заболевания выделяют несколько клинических форм, различающихся по возрасту манифестации, основным клиническим проявлениям и характеру течения. Болезнь Ниманна–Пика, тип С может протекать под масками других наследственных и приобретенных заболеваний, что затрудняет ее раннюю диагностику. В данной публикации обсуждается клинико-генетическое разнообразие данной патологии, рассмотренное на случаях, диагностированных в ФГБУ «МГНЦ» РАМН.

Sensitivity of 5-6 day old chick embryos to some members of the chlamydia family

The goal of the work was to improve the diagnosis of chlamydia in animals and birds. The article presents data on experimental infection of 5-6-day and 7-9-day chicken embryos with certain types of chlamydia to study their sensitivity. Having analyzed the results obtained, it was shown that 5-6-day-old chicken embryos are the most sensitive and chlamydia are cultured in them from the first passage in higher titers compared to cultivation in 7-9-day-old chicken embryos

NIMANN-PICK TYPE C DISEASE. CLINICAL CASE STUDIES

Nimann-Pick Type C Disease is a hereditary progressive disease of the nervous system from the group of lysosomal accumulation diseases resulting from abnormal subcellular lipid distribution, which leads to the accumulation of cholesterol and glycosphingolipid in the brain and other body tissues. Clinical presentation of the disease is varied and manifested as progressive cerebellar, cognitive disorders, vertical ophthalmoparesis, frequently combined with disorders of the liver, spleen and lungs. This article outlines the key mechanisms of Nimann-Pick type C disease pathogenesis, leading clinical presentations depending on the time the disease manifested it self and key therapy approaches. We described two cases of this disease registered in Russia. It provides a comparative clinical analysis with already published data. To date, a pathogenetic treatment course has been developed for this disease, a timely detection of this pathology is, therefore, important to the burdened family. This representative article on modern data on diagnostics and treatment of NPC is intended for neurologists, pediatricians, psychiatrists and geneticists. Key words: neurodegenerative disease, Nimann-Pick type C disease, convulsions, ataxia, vertical ophthalmoparesis, loss of acquired skills. (Pediatric Pharmacology. – 2010; 7(5):48-53

NIMANN-PICK TYPE C DISEASE. CLINICAL CASE STUDIES

Nimann-Pick Type C Disease is a hereditary progressive disease of the nervous system from the group of lysosomal accumulation diseases resulting from abnormal subcellular lipid distribution, which leads to the accumulation of cholesterol and glycosphingolipid in the brain and other body tissues. Clinical presentation of the disease is varied and manifested as progressive cerebellar, cognitive disorders, vertical ophthalmoparesis, frequently combined with disorders of the liver, spleen and lungs. This article outlines the key mechanisms of Nimann-Pick type C disease pathogenesis, leading clinical presentations depending on the time the disease manifested it self and key therapy approaches. We described two cases of this disease registered in Russia. It provides a comparative clinical analysis with already published data. To date, a pathogenetic treatment course has been developed for this disease, a timely detection of this pathology is, therefore, important to the burdened family. This representative article on modern data on diagnostics and treatment of NPC is intended for neurologists, pediatricians, psychiatrists and geneticists. Key words: neurodegenerative disease, Nimann-Pick type C disease, convulsions, ataxia, vertical ophthalmoparesis, loss of acquired skills. (Pediatric Pharmacology. – 2010; 7(5):48-53

Synthesis and reduction of 9-(α-nitrophenacylidene)-4-azafluorene

Reaction of 9-phenacylidene-4-azafluorene with acetyl nitrate produces a mixture of geometric isomers of 9-(α-nitrophenacylidene)-4-azafluorene. The nitro group splits off upon reduction of the product in the system zinc-ammonia and zinc-acetic acid and on Raney nickel. Proceeding of the Henry retro-reaction has been pointed out. ©1999 KluwerAcademic/Plenum Publishers

Indicative Approach to Assessing the Potential for Capacity Growth in Branches of the Nonresource Sector of the Region

The paper considers the problem of capacity growth of the economic system in the region due to accumulated or gross value added. The gross value added, as an indicator of the economic development of territories, is represented by the following sources of development: the salary fund for supporting labour potential, depreciation and profit, as means of ensuring reproduction in business. Assessing the region’s capacity potential is also carried out from the perspective of the potential of available resources accumulated by gross value added, with their subsequent transformation into the stock and labour capacity. Along with that, gross value added appears in two aspects: as a potential for resource development and as an economic effect of the subjects’ activities in the region, it allows using an indicative approach to modelling situations and making management decisions for its growth at various levels – from business to industry within macro-districts and municipalities. There is a logical chain of indicators, that moves from the investment potential formed and used to support resources to the results of using it in the form of GVA and capacity. The Krasnoyarsk Krai, consisting of 6 macrodistricts and 58 territories, is an object of the research. The subject of the research was the development of production systems in the territories with access to metrics assessing the transformation quality and efficiency. Their indicative form allows classifying territories and macro-districts by their use of available resources. In general, the research is analytical and is aimed at developing the regional policy to improve the technological structure of the economy, giving it greater stability in changing markets

Synthesis and reduction of 9-(α-nitrophenacylidene)-4-azafluorene

Reaction of 9-phenacylidene-4-azafluorene with acetyl nitrate produces a mixture of geometric isomers of 9-(α-nitrophenacylidene)-4-azafluorene. The nitro group splits off upon reduction of the product in the system zinc-ammonia and zinc-acetic acid and on Raney nickel. Proceeding of the Henry retro-reaction has been pointed out. ©1999 KluwerAcademic/Plenum Publishers

Pyrazolo-4-azaphenanthrenes

A mixture of phenyl substituted pyrazolo-4-azaphenanthrenes with different closure of the heterocyclic units was obtained by alkaline scission of 9-phenacylidene-4-azafluorene tosylhydrazone. Elimination of the nitro group occurs when 9-(α-nitrophenacylidene)-4-azafluorene is condensed with tosylhydrazine. ©1999 KluwerAcademic/Plenum Publishers