Morpho-functional parameters of neurons in the sensorimotor cortex and neuroapoptosis under conditions of an induced experimental allergic encephalomyelitis in rats and a course of intranasal gel administration containing n-phenylacetyl-l-prolylglycine (N

Purpose. The aim of the research is to evaluate a neuroprotective effect of the nasal dosage form containing Noopept (n-phenylacetyl-l-prolylglycine ethyl ester) by the degree of influence on morphofunctional parameters of neurons in the sensorimotor cortex of animals with experimental allergic encephalomyelitis.Methods. The experiments were conducted on 260 outbred albino rats weighing 190-220 g which were obtained from the nursery of the State Institution «Institute ofPharmacology and Toxicology of the Academy of Medical Sciences of Ukraine». The quarantine (acclimatization period) for all animals lasted 14 days. An animal model of experimental allergic encephalomyelitis (EAE) which has clinical manifestations and pathogenic mechanisms similar to multiple sclerosis was used for the study. There were five groups of animals in the experiment: 1) the intact group (10 rats); 2) the control group  – non-treated subjects with EAE which received saline solution (20 rats); 3) the animals with EAE which received basic treatment – 3,4 mg / kg of Methylprednisolone (MP) intraperitoneally, administered slowly in saline solution with a volume of not more than 1/10 of the blood volume of a rat (20 rats); 4) the animals with EAE which received MP and a nasal gel containing n-phenylacetyl-l-prolylglycine at a dose of 10 mg / kg (20 rats); 5) the animals with EAE which received MP and Citicolinum (Ceraxon, «Ferrer Internacional S.A.», Spain) series D003U1, 500 mg / kg, intragastrically (20 rats). Morphometric studies were carried out with the help of Axioskop microscope (Ziess,Germany), a magnification of x40. The image of neurons in the area of the CA-1 zone of the hippocampus, obtained from the microscope using a highly sensitive video camera COHU-4922 (COCHU Inc.,USA).Results. It has been shown that the combination therapy with Methylprednisolone and an intranasal gel containing n-phenylacetyl-l-prolylglycine intensified neuroprotectivity in the animals with EAE. In particular, a neuronal density in rats with the experimental pathology, which received a combination of Methylprednisolone and a gel containing n-phenylacetyl-l-prolylglycine, increased by 14,7 (р <0,05) and their area equaled in values with animals from the intact group; at the same time, the amount of RNA increased by 9,2%. In addition, in conditions of this experiment n-phenylacetyl-l-prolylglycine decreased density of apoptotic and destructive cells by 32,4% (р <0,05) in relation to the control and the MP groups, and the amount of apoptotic neurons – by 44,6% (р <0,05). Judging by effect on the neuronal density and the density of apoptotic and destructively altered neurons in the sensorimotor cortex of outbred albino rats with EAE, a combination of Methylprednisolone and a gel containing n-phenylacetyl-l-prolylglycine reliably exceeds the combined therapy of Methylprednisolone and Citicolinum and the MP monotherapy.  A higher, according to some indicators, neuroprotective, nootropic, anxiolytic activity of a gel containing n-phenylacetyl-l-prolylglycine is due to its intranasal route of administration. Conclusions: For the first time, we have obtained reliable data on the neuroprotective effect of the new dosage form containing n-phenylacetyl-l-prolylglycine (Noopept) – an intranasal gel – under conditions of an induced experimental multiple sclerosis. It has been shown that a course of intranasal administration of a gel containing n-phenylacetyl-l-prolylglycine (Noopept) at a dose of 10 mg / kg in combination with Methylprednisolone leads to a decrease in the death of neurons in the sensorimotor cortex of rats with EAE and an increase in the amount of RNA in them. It has been shown that a course of intranasal administration of a gel containing n-phenylacetyl-l-prolylglycine (Noopept) at a dose of 10 mg / kg in combination with Methylprednisolone leads to neuroapoptosis inhibition – a decrease in the density of apoptotic and destructively altered neurons in the sensorimotor cortex of outbred albino rats with EAE. It has been found that judging by effect on the neuronal density and the density of apoptotic and destructively altered neurons in the sensorimotor cortex of the outbred albino rats with EAE, a combination of Methylprednisolone and a gel containing n-phenylacetyl-l-prolylglycine reliably exceeds the combined therapy of Methylprednisolone and Citicolinum and the MP monotherapy.

ВИКОРИСТАННЯ СУЧАСНИХ ТЕХНОЛОГІЙ КОМУНІКАЦІЙ ДЛЯ ОПТИМІЗАЦІЇ САМОСТІЙНОЇ РОБОТИ СТУДЕНТІВ НА КАФЕДРІ ТЕХНОЛОГІЇ ЛІКІВ

The article outlines the issues on the selection and application of modern technologies of Internet communications to optimize students’ independent work and the intensification of the educational process. Development of electronic learning materials and then use them in the webinar will improve learning and increase motivation for learning in students.У статті окреслено питання, щодо вибору та застосування сучасних технологій інтернет-комунікацій, для оптимізації самостійної роботи студентів та інтенсифікації навчального процесу. Розробка електронних навчальних матеріалів з подальшим використанням їх у вебінарах сприятиме покращенню засвоєння знань та підвищенню мотивації до навчання у студентів

The study of structural-mechanical characteristics of suppositories with clopidogrel

Abstract During last years clopidogrel keeps leading positions among medicines with platelet antiaggregation mechanism. The rectal dosage form with clopidogrel, namely suppository containing 0.075 g of active substance on hydrophilic base with addition of 2 % twin-80 was proposed by the Department of Medicinal Preparations Technology (Zaporizhzhia State Medical University on the base of complex investigations. The aim of present work is the study of structural-mechanical characteristics of rectal dosage form with clopidogrel depending on the temperature of technological process of supposirory manufacturing. The study of structural-mechanical characteristics of suppository mass with clopidogrel was carried out using the rotational viscosimeter “Rheotest2”with cylinder device at the human body temperature (37 ºС) and at temperature of manufacturing technological process. Results. Results testify presence of structure in suppository mass system, because limit shear stress increases and effective viscosity decreases with deformation speed rising. Conclusions. Study of consistent characteristics of suppository mass with clopidogrel on polyethylenoxyde base with addition of 2 % twin-80 at the human body temperature was carried out. It was established that it is structural system with expressed thixotropic properties and with the uniform distribution of active substance and excipients both at the moment of manufacturing and during administration or long storage. It was revealed that increasing of temperature of suppository mass to 50 ºС doesn't lead to essential modification of its structural-mechanical characteristics and transformation into Newtonian system. Taking obtained results into account it was determined that temperature rate of manufacturing of rectal suppositories with clopidogrel on the hydrofiflic base (processes of mixing, homogenization, pouring into forms) within 50–55 ºС creates sufficient fluidity of mass for unhampered technological process and thixotropy of suppository mass providing the uniform distribution of active substance and excipients in this dosage form

РОЗРОБКА МЕТОДИКИ СПЕКТРОФОТОМЕТРИЧНОГО ВИЗНАЧЕННЯ РЕКОМБІНАНТНОГО РЕЦЕПТОРНОГО АНТАГОНІСТА ІНТЕРЛЕЙКІНУ-1 ЛЮДИНИ В НАПІВФАБРИКАТІ-РОЗЧИНІ

The aim of the work. The development and validation of the new spectrophotometric method for the quantitative determination of a recombinant human interleukin-1 receptor antagonist (IL-1RA) in a semi-finished solution. Materials and Methods. Studying object – a semi-finished solution (IL-1RA 50 mg, disodium edetate – 0,12 mg, sodium dihydrophosphate dihydrate – 7,8 mg, polysorbate-20 – 0,10 mg, water for injection up to 1 ml). As a solvent, purified water was used. Analytical equipment: spectrophotometer Specord 200, electronic scales АВТ-120-5DM. Results and Discussion. A new, simple method for the quantitative determination of a recombinant human IL-1RA in a semi-finished solution with the method of UV spectrophotometry has been developed, that is based on the measuring of the absorption of the aqueous solution at 280 nm. The method was validated for linearity, accuracy, precision, specificity, and robustness. The linear dependence of absorption on concentration was found in the range of 0,6 to 1,1 mg/ml. The analysis of the predicted total indeterminacy of the analysis indicates the possibility of its application in other laboratories. Conclusion. The development and validation of the spectrophotometric method of quantitative determination of a recombinant human IL-1RA in a semi-finished solution according to the standardized validation procedure was carried out. It is proved that according to such validation characteristics as linearity, precision, correctness and robustness, the method is correct.Мета роботи. Розробка та валідація нової методики спектрофотометричного кількісного визначення рекомбінантного рецепторного антагоніста інтерлейкіну-1 людини (РРАІЛ-1) у напівфабрикаті-розчині. Матеріали і методи. У дослідженні використано напівфабрикат-розчин (РРАІЛ-1 – 50 мг, динатрію едетат – 0,12 мг, натрію дигідрофосфат дигідрат – 7,8 мг, полісорбат-20 – 0,10 мг, вода для ін’єкцій до 1 мл), а як розчинник – воду очищену. Аналітичне обладнання: спектрофотометр Specord 200, ваги електронні АВТ-120-5DM. Результати й обговорення. Розроблено нову, просту методику кількісного визначення РРАІЛ-1 у напівфабрикаті-розчині методом спектрофотометрії в УФ-області, яка базується на вимірюванні оптичної густини водного розчину сполуки при 280 нм. Методика була валідована за такими характеристиками як лінійність, прецизійність, правильність, специфічність та робасність. Лінійна залежність абсорбції від концентрації знаходиться в діапазоні 0,6–1,1 мг/мл. Аналіз прогнозованої повної невизначеності аналізу свідчить про можливість застосування розробленої методики в інших лабораторіях. Висновки. Розроблено та валідовано методику визначення вмісту РРАІЛ-1 у напівфабрикаті-розчині згідно з вимогами ДФУ. Доведено, що за такими валідаційними характеристиками, як лінійність, специфічність, прецизійність, правильність та робасність методика є коректною

Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016

: O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson O2 Phenome-wide association study for smoking- and drinking-associated genes in 26,394 American women with African, Asian, European, and Hispanic descents R. Polimanti, J. Gelernter O3 Effects of prenatal environment, genotype and DNA methylation on birth weight and subsequent postnatal outcomes: findings from GUSTO, an Asian birth cohort X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen, I. M. Aris, S. E. Soh, M. T. Tint, J. L. MacIsaac, F. Yap, K. Kwek, S. M. Saw, M. S. Kobor, M. J. Meaney, K. M. Godfrey, Y. S. Chong, J. D. Holbrook, Y. S. Lee, P. D. Gluckman, N. Karnani, GUSTO study group O4 High-throughput identification of specific qt interval modulating enhancers at the SCN5A locus A. Kapoor, D. Lee, A. Chakravarti O5 Identification of extracellular matrix components inducing cancer cell migration in the supernatant of cultivated mesenchymal stem cells C. Maercker, F. Graf, M. Boutros O6 Single cell allele specific expression (ASE) IN T21 and common trisomies: a novel approach to understand DOWN syndrome and other aneuploidies G. Stamoulis, F. Santoni, P. Makrythanasis, A. Letourneau, M. Guipponi, N. Panousis, M. Garieri, P. Ribaux, E. Falconnet, C. Borel, S. E. Antonarakis O7 Role of microRNA in LCL to IPSC reprogramming S. Kumar, J. Curran, J. Blangero O8 Multiple enhancer variants disrupt gene regulatory network in Hirschsprung disease S. Chatterjee, A. Kapoor, J. Akiyama, D. Auer, C. Berrios, L. Pennacchio, A. Chakravarti O9 Metabolomic profiling for the diagnosis of neurometabolic disorders T. R. Donti, G. Cappuccio, M. Miller, P. Atwal, A. Kennedy, A. Cardon, C. Bacino, L. Emrick, J. Hertecant, F. Baumer, B. Porter, M. Bainbridge, P. Bonnen, B. Graham, R. Sutton, Q. Sun, S. Elsea O10 A novel causal methylation network approach to Alzheimer’s disease Z. Hu, P. Wang, Y. Zhu, J. Zhao, M. Xiong, David A Bennett O11 A microRNA signature identifies subtypes of triple-negative breast cancer and reveals MIR-342-3P as regulator of a lactate metabolic pathway A. Hidalgo-Miranda, S. Romero-Cordoba, S. Rodriguez-Cuevas, R. Rebollar-Vega, E. Tagliabue, M. Iorio, E. D’Ippolito, S. Baroni O12 Transcriptome analysis identifies genes, enhancer RNAs and repetitive elements that are recurrently deregulated across multiple cancer types B. Kaczkowski, Y. Tanaka, H. Kawaji, A. Sandelin, R. Andersson, M. Itoh, T. Lassmann, the FANTOM5 consortium, Y. Hayashizaki, P. Carninci, A. R. R. Forrest O13 Elevated mutation and widespread loss of constraint at regulatory and architectural binding sites across 11 tumour types C. A. Semple O14 Exome sequencing provides evidence of pathogenicity for genes implicated in colorectal cancer E. A. Rosenthal, B. Shirts, L. Amendola, C. Gallego, M. Horike-Pyne, A. Burt, P. Robertson, P. Beyers, C. Nefcy, D. Veenstra, F. Hisama, R. Bennett, M. Dorschner, D. Nickerson, J. Smith, K. Patterson, D. Crosslin, R. Nassir, N. Zubair, T. Harrison, U. Peters, G. Jarvik, NHLBI GO Exome Sequencing Project O15 The tandem duplicator phenotype as a distinct genomic configuration in cancer F. Menghi, K. Inaki, X. Woo, P. Kumar, K. Grzeda, A. Malhotra, H. Kim, D. Ucar, P. Shreckengast, K. Karuturi, J. Keck, J. Chuang, E. T. Liu O16 Modeling genetic interactions associated with molecular subtypes of breast cancer B. Ji, A. Tyler, G. Ananda, G. Carter O17 Recurrent somatic mutation in the MYC associated factor X in brain tumors H. Nikbakht, M. Montagne, M. Zeinieh, A. Harutyunyan, M. Mcconechy, N. Jabado, P. Lavigne, J. Majewski O18 Predictive biomarkers to metastatic pancreatic cancer treatment J. B. Goldstein, M. Overman, G. Varadhachary, R. Shroff, R. Wolff, M. Javle, A. Futreal, D. Fogelman O19 DDIT4 gene expression as a prognostic marker in several malignant tumors L. Bravo, W. Fajardo, H. Gomez, C. Castaneda, C. Rolfo, J. A. Pinto O20 Spatial organization of the genome and genomic alterations in human cancers K. C. Akdemir, L. Chin, A. Futreal, ICGC PCAWG Structural Alterations Group O21 Landscape of targeted therapies in solid tumors S. Patterson, C. Statz, S. Mockus O22 Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma S. N. Nikolaev, X. I. Bonilla, L. Parmentier, B. King, F. Bezrukov, G. Kaya, V. Zoete, V. Seplyarskiy, H. Sharpe, T. McKee, A. Letourneau, P. Ribaux, K. Popadin, N. Basset-Seguin, R. Ben Chaabene, F. Santoni, M. Andrianova, M. Guipponi, M. Garieri, C. Verdan, K. Grosdemange, O. Sumara, M. Eilers, I. Aifantis, O. Michielin, F. de Sauvage, S. Antonarakis O23 Identification of differential biomarkers of hepatocellular carcinoma and cholangiocarcinoma via transcriptome microarray meta-analysis S. Likhitrattanapisal O24 Clinical validity and actionability of multigene tests for hereditary cancers in a large multi-center study S. Lincoln, A. Kurian, A. Desmond, S. Yang, Y. Kobayashi, J. Ford, L. Ellisen O25 Correlation with tumor ploidy status is essential for correct determination of genome-wide copy number changes by SNP array T. L. Peters, K. R. Alvarez, E. F. Hollingsworth, D. H. Lopez-Terrada O26 Nanochannel based next-generation mapping for interrogation of clinically relevant structural variation A. Hastie, Z. Dzakula, A. W. Pang, E. T. Lam, T. Anantharaman, M. Saghbini, H. Cao, BioNano Genomics O27 Mutation spectrum in a pulmonary arterial hypertension (PAH) cohort and identification of associated truncating mutations in TBX4 C. Gonzaga-Jauregui, L. Ma, A. King, E. Berman Rosenzweig, U. Krishnan, J. G. Reid, J. D. Overton, F. Dewey, W. K. Chung O28 NORTH CAROLINA macular dystrophy (MCDR1): mutations found affecting PRDM13 K. Small, A. DeLuca, F. Cremers, R. A. Lewis, V. Puech, B. Bakall, R. Silva-Garcia, K. Rohrschneider, M. Leys, F. S. Shaya, E. Stone O29 PhenoDB and genematcher, solving unsolved whole exome sequencing data N. L. Sobreira, F. Schiettecatte, H. Ling, E. Pugh, D. Witmer, K. Hetrick, P. Zhang, K. Doheny, D. Valle, A. Hamosh O30 Baylor-Johns Hopkins Center for Mendelian genomics: a four year review S. N. Jhangiani, Z. Coban Akdemir, M. N. Bainbridge, W. Charng, W. Wiszniewski, T. Gambin, E. Karaca, Y. Bayram, M. K. Eldomery, J. Posey, H. Doddapaneni, J. Hu, V. R. Sutton, D. M. Muzny, E. A. Boerwinkle, D. Valle, J. R. Lupski, R. A. Gibbs O31 Using read overlap assembly to accurately identify structural genetic differences in an ashkenazi jewish trio S. Shekar, W. Salerno, A. English, A. Mangubat, J. Bruestle O32 Legal interoperability: a sine qua non for international data sharing A. Thorogood, B. M. Knoppers, Global Alliance for Genomics and Health - Regulatory and Ethics Working Group O33 High throughput screening platform of competent sineups: that can enhance translation activities of therapeutic target H. Takahashi, K. R. Nitta, A. Kozhuharova, A. M. Suzuki, H. Sharma, D. Cotella, C. Santoro, S. Zucchelli, S. Gustincich, P. Carninci O34 The undiagnosed diseases network international (UDNI): clinical and laboratory research to meet patient needs J. J. Mulvihill, G. Baynam, W. Gahl, S. C. Groft, K. Kosaki, P. Lasko, B. Melegh, D. Taruscio O36 Performance of computational algorithms in pathogenicity predictions for activating variants in oncogenes versus loss of function mutations in tumor suppressor genes R. Ghosh, S. Plon O37 Identification and electronic health record incorporation of clinically actionable pharmacogenomic variants using prospective targeted sequencing S. Scherer, X. Qin, R. Sanghvi, K. Walker, T. Chiang, D. Muzny, L. Wang, J. Black, E. Boerwinkle, R. Weinshilboum, R. Gibbs O38 Melanoma reprogramming state correlates with response to CTLA-4 blockade in metastatic melanoma T. Karpinets, T. Calderone, K. Wani, X. Yu, C. Creasy, C. Haymaker, M. Forget, V. Nanda, J. Roszik, J. Wargo, L. Haydu, X. Song, A. Lazar, J. Gershenwald, M. Davies, C. Bernatchez, J. Zhang, A. Futreal, S. Woodman O39 Data-driven refinement of complex disease classification from integration of heterogeneous functional genomics data in GeneWeaver E. J. Chesler, T. Reynolds, J. A. Bubier, C. Phillips, M. A. Langston, E. J. Baker O40 A general statistic framework for genome-based disease risk prediction M. Xiong, L. Ma, N. Lin, C. Amos O41 Integrative large-scale causal network analysis of imaging and genomic data and its application in schizophrenia studies N. Lin, P. Wang, Y. Zhu, J. Zhao, V. Calhoun, M. Xiong O42 Big data and NGS data analysis: the cloud to the rescue O. Dobretsberger, M. Egger, F. Leimgruber O43 Cpipe: a convergent clinical exome pipeline specialised for targeted sequencing S. Sadedin, A. Oshlack, Melbourne Genomics Health Alliance O44 A Bayesian classification of biomedical images using feature extraction from deep neural networks implemented on lung cancer data V. A. A. Antonio, N. Ono, Clark Kendrick C. Go O45 MAV-SEQ: an interactive platform for the Management, Analysis, and Visualization of sequence data Z. Ahmed, M. Bolisetty, S. Zeeshan, E. Anguiano, D. Ucar O47 Allele specific enhancer in EPAS1 intronic regions may contribute to high altitude adaptation of Tibetans C. Zeng, J. Shao O48 Nanochannel based next-generation mapping for structural variation detection and comparison in trios and populations H. Cao, A. Hastie, A. W. Pang, E. T. Lam, T. Liang, K. Pham, M. Saghbini, Z. Dzakula O49 Archaic introgression in indigenous populations of Malaysia revealed by whole genome sequencing Y. Chee-Wei, L. Dongsheng, W. Lai-Ping, D. Lian, R. O. Twee Hee, Y. Yunus, F. Aghakhanian, S. S. Mokhtar, C. V. Lok-Yung, J. Bhak, M. Phipps, X. Shuhua, T. Yik-Ying, V. Kumar, H. Boon-Peng O50 Breast and ovarian cancer prevention: is it time for population-based mutation screening of high risk genes? I. Campbell, M.-A. Young, P. James, Lifepool O53 Comprehensive coverage from low DNA input using novel NGS library preparation methods for WGS and WGBS C. Schumacher, S. Sandhu, T. Harkins, V. Makarov O54 Methods for large scale construction of robust PCR-free libraries for sequencing on Illumina HiSeqX platform H. DoddapaneniR. Glenn, Z. Momin, B. Dilrukshi, H. Chao, Q. Meng, B. Gudenkauf, R. Kshitij, J. Jayaseelan, C. Nessner, S. Lee, K. Blankenberg, L. Lewis, J. Hu, Y. Han, H. Dinh, S. Jireh, K. Walker, E. Boerwinkle, D. Muzny, R. Gibbs O55 Rapid capture methods for clinical sequencing J. Hu, K. Walker, C. Buhay, X. Liu, Q. Wang, R. Sanghvi, H. Doddapaneni, Y. Ding, N. Veeraraghavan, Y. Yang, E. Boerwinkle, A. L. Beaudet, C. M. Eng, D. M. Muzny, R. A. Gibbs O56 A diploid personal human genome model for better genomes from diverse sequence data K. C. C. Worley, Y. Liu, D. S. T. Hughes, S. C. Murali, R. A. Harris, A. C. English, X. Qin, O. A. Hampton, P. Larsen, C. Beck, Y. Han, M. Wang, H. Doddapaneni, C. L. Kovar, W. J. Salerno, A. Yoder, S. Richards, J. Rogers, J. R. Lupski, D. M. Muzny, R. A. Gibbs O57 Development of PacBio long range capture for detection of pathogenic structural variants Q. Meng, M. Bainbridge, M. Wang, H. Doddapaneni, Y. Han, D. Muzny, R. Gibbs O58 Rhesus macaques exhibit more non-synonymous variation but greater impact of purifying selection than humans R. A. Harris, M. Raveenedran, C. Xue, M. Dahdouli, L. Cox, G. Fan, B. Ferguson, J. Hovarth, Z. Johnson, S. Kanthaswamy, M. Kubisch, M. Platt, D. Smith, E. Vallender, R. Wiseman, X. Liu, J. Below, D. Muzny, R. Gibbs, F. Yu, J. Rogers O59 Assessing RNA structure disruption induced by single-nucleotide variation J. Lin, Y. Zhang, Z. Ouyang P1 A meta-analysis of genome-wide association studies of mitochondrial dna copy number A. Moore, Z. Wang, J. Hofmann, M. Purdue, R. Stolzenberg-Solomon, S. Weinstein, D. Albanes, C.-S. Liu, W.-L. Cheng, T.-T. Lin, Q. Lan, N. Rothman, S. Berndt P2 Missense polymorphic genetic combinations underlying down syndrome susceptibility E. S. Chen P4 The evaluation of alteration of ELAM-1 expression in the endometriosis patients H. Bahrami, A. Khoshzaban, S. Heidari Keshal P5 Obesity and the incidence of apolipoprotein E polymorphisms in an assorted population from Saudi Arabia population K. K. R. Alharbi P6 Genome-associated personalized antithrombotical therapy for patients with high risk of thrombosis and bleeding M. Zhalbinova, A. Akilzhanova, S. Rakhimova, M. Bekbosynova, S. Myrzakhmetova P7 Frequency of Xmn1 polymorphism among sickle cell carrier cases in UAE population M. Matar P8 Differentiating inflammatory bowel diseases by using genomic data: dimension of the problem and network organization N. Mili, R. Molinari, Y. Ma, S. Guerrier P9 Vulnerability of genetic variants to the risk of autism among Saudi children N. Elhawary, M. Tayeb, N. Bogari, N. Qotb P10 Chromatin profiles from ex vivo purified dopaminergic neurons establish a promising model to support studies of neurological function and dysfunction S. A. McClymont, P. W. Hook, L. A. Goff, A. McCallion P11 Utilization of a sensitized chemical mutagenesis screen to identify genetic modifiers of retinal dysplasia in homozygous Nr2e3rd7 mice Y. Kong, J. R. Charette, W. L. Hicks, J. K. Naggert, L. Zhao, P. M. Nishina P12 Ion torrent next generation sequencing of recessive polycystic kidney disease in Saudi patients B. M. Edrees, M. Athar, F. A. Al-Allaf, M. M. Taher, W. Khan, A. Bouazzaoui, N. A. Harbi, R. Safar, H. Al-Edressi, A. Anazi, N. Altayeb, M. A. Ahmed, K. Alansary, Z. Abduljaleel P13 Digital expression profiling of Purkinje neurons and dendrites in different subcellular compartments A. Kratz, P. Beguin, S. Poulain, M. Kaneko, C. Takahiko, A. Matsunaga, S. Kato, A. M. Suzuki, N. Bertin, T. Lassmann, R. Vigot, P. Carninci, C. Plessy, T. Launey P14 The evolution of imperfection and imperfection of evolution: the functional and functionless fractions of the human genome D. Graur P16 Species-independent identification of known and novel recurrent genomic entities in multiple cancer patients J. Friis-Nielsen, J. M. Izarzugaza, S. Brunak P18 Discovery of active gene modules which are densely conserved across multiple cancer types reveal their prognostic power and mutually exclusive mutation patterns B. S. Soibam P19 Whole exome sequencing of dysplastic leukoplakia tissue indicates sequential accumulation of somatic mutations from oral precancer to cancer D. Das, N. Biswas, S. Das, S. Sarkar, A. Maitra, C. Panda, P. Majumder P21 Epigenetic mechanisms of carcinogensis by hereditary breast cancer genes J. J. Gruber, N. Jaeger, M. Snyder P22 RNA direct: a novel RNA enrichment strategy applied to transcripts associated with solid tumors K. Patel, S. Bowman, T. Davis, D. Kraushaar, A. Emerman, S. Russello, N. Henig, C. Hendrickson P23 RNA sequencing identifies gene mutations for neuroblastoma K. Zhang P24 Participation of SFRP1 in the modulation of TMPRSS2-ERG fusion gene in prostate cancer cell lines M. Rodriguez-Dorantes, C. D. Cruz-Hernandez, C. D. P. Garcia-Tobilla, S. Solorzano-Rosales P25 Targeted Methylation Sequencing of Prostate Cancer N. Jäger, J. Chen, R. Haile, M. Hitchins, J. D. Brooks, M. Snyder P26 Mutant TPMT alleles in children with acute lymphoblastic leukemia from México City and Yucatán, Mexico S. Jiménez-Morales, M. Ramírez, J. Nuñez, V. Bekker, Y. Leal, E. Jiménez, A. Medina, A. Hidalgo, J. Mejía P28 Genetic modifiers of Alström syndrome J. Naggert, G. B. Collin, K. DeMauro, R. Hanusek, P. M. Nishina P31 Association of genomic variants with the occurrence of angiotensin-converting-enzyme inhibitor (ACEI)-induced coughing among Filipinos E. M. Cutiongco De La Paz, R. Sy, J. Nevado, P. Reganit, L. Santos, J. D. Magno, F. E. Punzalan , D. Ona , E. Llanes, R. L. Santos-Cortes , R. Tiongco, J. Aherrera, L. Abrahan, P. Pagauitan-Alan; Philippine Cardiogenomics Study Group P32 The use of “humanized” mouse models to validate disease association of a de novo GARS variant and to test a novel gene therapy strategy for Charcot-Marie-Tooth disease type 2D K. H. Morelli, J. S. Domire, N. Pyne, S. Harper, R. Burgess P34 Molecular regulation of chondrogenic human induced pluripotent stem cells M. A. Gari, A. Dallol, H. Alsehli, A. Gari, M. Gari, A. Abuzenadah P35 Molecular profiling of hematologic malignancies: implementation of a variant assessment algorithm for next generation sequencing data analysis and clinical reporting M. Thomas, M. Sukhai, S. Garg, M. Misyura, T. Zhang, A. Schuh, T. Stockley, S. Kamel-Reid P36 Accessing genomic evidence for clinical variants at NCBI S. Sherry, C. Xiao, D. Slotta, K. Rodarmer, M. Feolo, M. Kimelman, G. Godynskiy, C. O’Sullivan, E. Yaschenko P37 NGS-SWIFT: a cloud-based variant analysis framework using control-accessed sequencing data from DBGAP/SRA C. Xiao, E. Yaschenko, S. Sherry P38 Computational assessment of drug induced hepatotoxicity through gene expression profiling C. Rangel-Escareño, H. Rueda-Zarate P40 Flowr: robust and efficient pipelines using a simple language-agnostic approach;ultraseq; fast modular pipeline for somatic variation calling using flowr S. Seth, S. Amin, X. Song, X. Mao, H. Sun, R. G. Verhaak, A. Futreal, J. Zhang P41 Applying “Big data” technologies to the rapid analysis of heterogenous large cohort data S. J. Whiite, T. Chiang, A. English, J. Farek, Z. Kahn, W. Salerno, N. Veeraraghavan, E. Boerwinkle, R. Gibbs P42 FANTOM5 web resource for the large-scale genome-wide transcription start site activity profiles of wide-range of mammalian cells T. Kasukawa, M. Lizio, J. Harshbarger, S. Hisashi, J. Severin, A. Imad, S. Sahin, T. C. Freeman, K. Baillie, A. Sandelin, P. Carninci, A. R. R. Forrest, H. Kawaji, The FANTOM Consortium P43 Rapid and scalable typing of structural variants for disease cohorts W. Salerno, A. English, S. N. Shekar, A. Mangubat, J. Bruestle, E. Boerwinkle, R. A. Gibbs P44 Polymorphism of glutathione S-transferases and sulphotransferases genes in an Arab population A. H. Salem, M. Ali, A. Ibrahim, M. Ibrahim P46 Genetic divergence of CYP3A5*3 pharmacogenomic marker for native and admixed Mexican populations J. C. Fernandez-Lopez, V. Bonifaz-Peña, C. Rangel-Escareño, A. Hidalgo-Miranda, A. V. Contreras P47 Whole exome sequence meta-analysis of 13 white blood cell, red blood cell, and platelet traits L. Polfus, CHARGE and NHLBI Exome Sequence Project Working Groups P48 Association of adipoq gene with type 2 diabetes and related phenotypes in african american men and women: The jackson heart study S. Davis, R. Xu, S. Gebeab, P Riestra, A Gaye, R. Khan, J. Wilson, A. Bidulescu P49 Common variants in casr gene are associated with serum calcium levels in koreans S. H. Jung, N. Vinayagamoorthy, S. H. Yim, Y. J. Chung P50 Inference of multiple-wave population admixture by modeling decay of linkage disequilibrium with multiple exponential functions Y. Zhou, S. Xu P51 A Bayesian framework for generalized linear mixed models in genome-wide association studies X. Wang, V. Philip, G. Carter P52 Targeted sequencing approach for the identification of the genetic causes of hereditary hearing impairment A. A. Abuzenadah, M. Gari, R. Turki, A. Dallol P53 Identification of enhancer sequences by ATAC-seq open chromatin profiling A. Uyar, A. Kaygun, S. Zaman, E. Marquez, J. George, D. Ucar P54 Direct enrichment for the rapid preparation of targeted NGS libraries C. L. Hendrickson, A. Emerman, D. Kraushaar, S. Bowman, N. Henig, T. Davis, S. Russello, K. Patel P56 Performance of the Agilent D5000 and High Sensitivity D5000 ScreenTape assays for the Agilent 4200 Tapestation System R. Nitsche, L. Prieto-Lafuente P57 ClinVar: a multi-source archive for variant interpretation M. Landrum, J. Lee, W. Rubinstein, D. Maglott P59 Association of functional variants and protein physical interactions of human MUTY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome Z. Abduljaleel, W. Khan, F. A. Al-Allaf, M. Athar , M. M. Taher, N. Shahzad P60 Modification of the microbiom constitution in the gut using chicken IgY antibodies resulted in a reduction of acute graft-versus-host disease after experimental bone marrow transplantation A. Bouazzaoui, E. Huber, A. Dan, F. A. Al-Allaf, W. Herr, G. Sprotte, J. Köstler, A. Hiergeist, A. Gessner, R. Andreesen, E. Holler P61 Compound heterozygous mutation in the LDLR gene in Saudi patients suffering severe hypercholesterolemia F. Al-Allaf, A. Alashwal, Z. Abduljaleel, M. Taher, A. Bouazzaoui, H. Abalkhail, A. Al-Allaf, R. Bamardadh, M. Atha

Перспективи створення нового інтраназального лікарського засобу на основі природної сировини для комплексної терапії алергічних ринітів

Allergic rhinitis is a disease of the nasal mucosa, which is based on allergic inflammation caused by the action of different natureallergens. Allergic rhinitis is quite common among the population, often occurs with frequent complications, resulting in decreased performance and quality of patients’life. Late or not effective therapy for this disease can lead to chronic disease and a combination of other pathologies, such as sinusitis, asthma and others.Primarily due to allergic inflammation in the lining of the nasal cavity,the allergen may persist for several weeks after exposure. Inflammation in the nasal cavitylining, triggered by allergens, leads to the accumulation of eosinophils, dendritic cells, T-lymphocytes and epithelial cells, which in its turn leads to activation and increased production of adhesion molecules by endothelial cells.Therapeutic help with allergic rhinitis may have the following areas:a) mechanical evacuation allergens;b) the use of pharmacological agents aimed at suppression of allergic process;c) the use of allergen-specific therapy;d) rational combination of the above directions for proper effect.Aim. Hold technological characteristics of salt dosage forms which are used as evacuation agents in the treatment of allergic rhinitis.Materials and methods. The material is known formulation, namely nasal saline solution. Information was taken from thesis, articles, patents and dissertation, etc.Results and discussion.Evacuation direction of curative care in allergic rhinitis caused by necessity of mechanical removal of allergens from the nasal cavity mucous areas. To do this, salt solutions of different compositionare used. According to the UkrainianState Register of medicines,salineis most common medicine in the domestic market amongpharmacotherapeutic group "means used for diseases of the nose". Range of nasal dosage forms is dominated by imported drugs, the share of domestic drugs is only 31.25%. As active ingredients, saline manufacturers mostly use sodium chloride, seawater and complex trace elements (magnesium, sodium, calcium) in different ratios. Such intranasal solutions by nature are mostly hypo or isotonic drugs. An exception is Aqua Maris® Strong (producer of "Jadran" Galenic Laboratory, Croatia), which is hypertonic solution of sterile seawater. As the solvent purified water or water for injectionare used. To ensure the stability of nasal dosage forms, some manufacturers of the tracks added preservatives, derivatives of quaternary ammonium compounds (benzalkonium chloride) and aromatic alcohols (benzyl alcohol). To normalize the pH substances of different chemical nature, such as sodium hydrogen phosphate dihydrate, sodium dihydrogen phosphate dihydrate, hydrochloric acidare used.Despite the existing range of drugs aimed at treatment and prevention of allergic rhinitis in patients,there is currentlyno safe and effectivetool that can fully provide therapeutic effect. When developing new means for intranasal pharmacotherapy of allergic rhinitis it is rational touse minerals of national origin, which will not only provide evacuation allergens, but also due to its high quality components will implement anti-inflammatory activity.Conclusions. As a result of research it was conducted that among intranasal medicines the natural salt is used for the treatment and prevention of allergic rhinitis. It is established that complex magnesium minerals from raw materials of natural originare perspective to be used.С целью технологической характеристики солевых лекарственных форм, которые используются как эвакуационные агенты при терапии аллергических ринитов, на основе специализированной литературы изучили составы известных назальных солевых растворов. Установили, что в качестве действующих веществ солевых растворов производители фармацевтических препаратов в большинстве случаев используют натрия хлорид, морскую воду, реже – комплекс микроэлементов (магния, натрия, кальция) в различных соотношениях. Несмотря на ассортимент лекарственных препаратов, направленных на терапию и профилактику аллергического ринита у пациентов, до настоящего времени нет безопасного средства, который в полной мере может обеспечивать лечебный эффект. Для расширения ассортимента отечественных интраназальных препаратов перспективно использовать комплекс магнийсодержащих минералов на основе сырья природного происхождения.З метою надання технологічної характеристики сольових лікарських форм, що застосовуються як евакуаційні агенти при терапії алергічних ринітів, на основі відомостей фахової літератури вивчили склади відомих назальних сольових розчинів. Виявили, що виробники фармацевтичних препаратів як діючі речовини сольових розчинів  здебільшого використовують натрію хлорид, морську воду, рідше – комплекс мікроелементів (магнію, натрію, кальцію) в різних співвідношеннях. Незважаючи на асортимент лікарських препаратів, що спрямовані на терапію та профілактику алергічного риніту в пацієнтів, дотепер відсутній безпечний засіб, який повною мірою може забезпечувати лікувальний ефект. Для розширення асортименту вітчизняних інтраназальних препаратів перспективно використовувати комплекс магнієвмісних мінералів на основі сировини природного походження

THE CREATION OF NEWINTRANASALDRUGBASED ONRAW MATERIALSOF NATURAL ORIGINFORALLERGICRHINITISCOMBINED THERAPY

Allergic rhinitis is a disease of the nasal mucosa, which is based on allergic inflammation caused by the action of different natureallergens. Allergic rhinitis is quite common among the population, often occurs with frequent complications, resulting in decreased performance and quality of patients’life. Late or not effective therapy for this disease can lead to chronic disease and a combination of other pathologies, such as sinusitis, asthma and others. Primarily due to allergic inflammation in the lining of the nasal cavity,the allergen may persist for several weeks after exposure. Inflammation in the nasal cavitylining, triggered by allergens, leads to the accumulation of eosinophils, dendritic cells, T-lymphocytes and epithelial cells, which in its turn leads to activation and increased production of adhesion molecules by endothelial cells. Therapeutic help with allergic rhinitis may have the following areas: a) mechanical evacuation allergens; b) the use of pharmacological agents aimed at suppression of allergic process; c) the use of allergen-specific therapy; d) rational combination of the above directions for proper effect. Aim. Hold technological characteristics of salt dosage forms which are used as evacuation agents in the treatment of allergic rhinitis. Materials and methods. The material is known formulation, namely nasal saline solution. Information was taken from thesis, articles, patents and dissertation, etc. Results and discussion.Evacuation direction of curative care in allergic rhinitis caused by necessity of mechanical removal of allergens from the nasal cavity mucous areas. To do this, salt solutions of different compositionare used. According to the UkrainianState Register of medicines,salineis most common medicine in the domestic market amongpharmacotherapeutic group "means used for diseases of the nose". Range of nasal dosage forms is dominated by imported drugs, the share of domestic drugs is only 31.25%. As active ingredients, saline manufacturers mostly use sodium chloride, seawater and complex trace elements (magnesium, sodium, calcium) in different ratios. Such intranasal solutions by nature are mostly hypo or isotonic drugs. An exception is Aqua Maris® Strong (producer of "Jadran" Galenic Laboratory, Croatia), which is hypertonic solution of sterile seawater. As the solvent purified water or water for injectionare used. To ensure the stability of nasal dosage forms, some manufacturers of the tracks added preservatives, derivatives of quaternary ammonium compounds (benzalkonium chloride) and aromatic alcohols (benzyl alcohol). To normalize the pH substances of different chemical nature, such as sodium hydrogen phosphate dihydrate, sodium dihydrogen phosphate dihydrate, hydrochloric acidare used. Despite the existing range of drugs aimed at treatment and prevention of allergic rhinitis in patients,there is currentlyno safe and effectivetool that can fully provide therapeutic effect. When developing new means for intranasal pharmacotherapy of allergic rhinitis it is rational touse minerals of national origin, which will not only provide evacuation allergens, but also due to its high quality components will implement anti-inflammatory activity. Conclusions. As a result of research it was conducted that among intranasal medicines the natural salt is used for the treatment and prevention of allergic rhinitis. It is established that complex magnesium minerals from raw materials of natural originare perspective to be used