GENETIC MARKERS OF PHARMACORESISTANCE IN SCHIZOPHRENIA

Medical Journal ◽

10.51922/1818-426x.2021.2.62 ◽

2021 ◽

pp. 62-69

Author(s):

T. S. Golubeva ◽

T. V. Dokukina ◽

V. G. Objedkov ◽

S. I. Osipchik ◽

T. V. Korotkevich ◽

...

Keyword(s):

Genetic Markers ◽

Sensitivity And Specificity ◽

Pharmacogenetic Test ◽

Pharmacological Response ◽

The Republic

The study of genetic markers of pharmacoresistance in schizophrenia, significant for the population of the Republic of Belarus, such as polymorphisms CYP2D6*4, CYP2C19*2, CYP2C19*17, CYPU2*F, С3435Т MDR1, TaqI ANKK1, d019G mRM, Val158Met СОМТ, Val66Met BDNF, C957T DRD2 was implemented. The possibilities of their use in predicting an adverse pharmacological response were described. Data on the use of genetic markers to determine the tactics of treating patients with schizophrenia were obtained; the sensitivity and specificity of the pharmacogenetic test for each marker were calculated. Specific genetic markers, such as polymorphisms CYP2D6*4, CYP2C19*2, CYP2C19*17, CYP1A2*F, C3435T MDR1, TaqI ANKK1, have been identified, which should be preferred for inclusion in diagnostic panels when predicting an adverse pharmacological response in the treatment of schizophrenia.

Download Full-text

Pharmacogenetic testing by polymorphic markers 681G>A and 636G>A CYP2C19 gene in patients with acute coronary syndrome and gastric ulcer in the Republic of Sakha (Yakutia)

Drug Metabolism and Personalized Therapy ◽

10.1515/dmpt-2018-0004 ◽

2018 ◽

Vol 33 (2) ◽

pp. 91-98 ◽

Cited By ~ 3

Author(s):

Denis S. Fedorinov ◽

Karin B. Mirzaev ◽

Dmitriy V. Ivashchenko ◽

Ilyas I. Temirbulatov ◽

Dmitriy A. Sychev ◽

...

Keyword(s):

Acute Coronary Syndrome ◽

Gastric Ulcer ◽

Ethnic Groups ◽

Chain Reaction ◽

Coronary Syndrome ◽

Pharmacological Response ◽

Significant Difference ◽

Cyp2c19 Gene ◽

Hardy Weinberg Equilibrium ◽

The Republic

Abstract Background: The focus of the study is to determine the prevalence of CYP2C19 alleles, associated with the risk of changes in the pharmacological response to clopidogrel and proton pump inhibitors in patients with acute coronary syndrome (ACS) and gastric ulcer from Russian and Yakut ethnic groups. Methods: The research included 411 patients with ACS (143 Russians and 268 Yakuts) and 204 patients with histologically confirmed gastric ulcer (63 Russians and 141 Yakuts). Genotyping of 681G>A and 636G>A polymorphisms was performed by using polymerase real-time chain reaction. Results: In both ethnic groups, Hardy-Weinberg equilibrium was followed in a distribution of alleles and genotypes in the population (p>0.05). The 681A allele frequency in the Yakut ethnic group was higher than in the Russian group: 17.53% vs. 8.39% (p=0.001). No statistically significant difference was found in the frequency of 636A in Yakuts and Russians with ACS: 3.92% vs. 3.50% (p=0.840). While comparing the frequency distribution of alleles 681A (13.49% vs. 14.54%, p=0.878) and 636A (7.94% vs. 7.80%, p=1) in patients with a gastric ulcer from Russian and Yakut ethnic groups, no significant difference was found in carrier frequency. Conclusions: The results of the present study may be helpful for developing guidelines for CYPC19 genotype-directed antiplatelet therapy for Yakut and Russian patients.

Download Full-text

Genome Target Evaluator (GTEvaluator): A workflow exploiting genome dataset to measure the sensitivity and specificity of genetic markers

PLoS ONE ◽

10.1371/journal.pone.0182082 ◽

2017 ◽

Vol 12 (7) ◽

pp. e0182082 ◽

Cited By ~ 2

Author(s):

Arnaud Felten ◽

Laurent Guillier ◽

Nicolas Radomski ◽

Michel-Yves Mistou ◽

Renaud Lailler ◽

...

Keyword(s):

Genetic Markers ◽

Sensitivity And Specificity ◽

Genome Dataset

Download Full-text

The effect of holstein bulls’kappa-casein gene genotype on the productive longevity of their female offspring in the republic of Bashkortostan

BIO Web of Conferences ◽

10.1051/bioconf/20213606007 ◽

2021 ◽

Vol 36 ◽

pp. 06007

Author(s):

Idris Yumaguzin ◽

Albina Aminova ◽

Vladimir Kosilov ◽

Tatiana Sedykh

Keyword(s):

Allele Frequency ◽

Genetic Markers ◽

Milk Yield ◽

Female Offspring ◽

Female Progeny ◽

Casein Gene ◽

Republic Of Bashkortostan ◽

Ideal Line ◽

The Republic ◽

Length Analysis

Increased productivity in the industry can be achieved by breeding for productive longevity through searching and using genetic markers. The study analysed the data of 1476 animals with at least one completed lactation. Depending on the linear affiliation and kappa-casein gene genotype of servicing bulls, their female offspring were divided into 4 groups. The CSN3 A allele frequency in the studied bulls was 81.91%, the CSN3 B allele was 18.09%. The highest frequency of the desired CSN3 B allele in the servicing bulls-producers of the Reflection Sovering line was 20.83%, which is 3.69% more than in the bulls of the Vis Back Ideal line. The animal life length analysis showed that the female progeny of bulls from the Reflection Sovering line (2.46 lactation), especially those with the CSN3 AB genotype (2.59 lactation), had the longest life. The offspring of CSN3AB genotype bulls of the Reflection Sovering line had the highest lifetime milk yield (18490 kg). The CSN3AB genotype cows of the Reflection Sovering line had the highest average milk yield on the 1st day of a cow’s life of 9.05 kg.

Download Full-text

DETECTION OF CAUSATIVE AGENTS OF TICK-BORNE INFECTIONS BY POLYMERASE CHAIN REACTION ASSAY CARRIED OUT AS A PART OF CLINICAL STUDIES IN THE “REPUBLICAN CLINICAL INFECTIOUS DISEASES HOSPITAL” OF ULAN-UDE

Acta biomedica scientifica ◽

10.29413/abs.2018-3.4.20 ◽

2018 ◽

Vol 3 (4) ◽

pp. 138-142

Author(s):

E. V. Silchenko ◽

L. M. Oshorova ◽

I. Ts. Balzhinimaeva ◽

E. I. Bondarenko ◽

N. A. Dasheeva ◽

...

Keyword(s):

Genetic Markers ◽

Coxiella Burnetii ◽

Q Fever ◽

Genetic Material ◽

Encephalitis Virus ◽

Clinical Material ◽

Unexpected Finding ◽

Tick Borne Encephalitis ◽

The Republic ◽

Tick Borne Encephalitis Virus

The article is devoted to the study of vector-borne pathogens circulating in the Republic of Buryatia. The authors have carried out identification of the genetic material of tick-borne encephalitis virus, Borrellia burgdorferi, Borrellia miуamotoi, Coxiella burnetii and Rickettsia sibirica in various samples of biological material. The object of the study were whole blood, leukocyte fraction and blood serum of patients admitted to the hospital in a state of fever that occurred after sucking of the tick, as well as mites brought by the population. A detailed analysis of the data showed that 11.7 % (9 out of 70) of the clinical material samples and 17.8 % (50 out of 281) of the tick samples had genetic markers of tick-borne pathogens. In the material from the patients, the RNA of tick-borne encephalitis virus was most often determined, and in the DNA of Borrellia burgdorferi mites. In addition, the authors first confirmed the etiologic role of Borrellia miуamotoi in the development of cases of Lyme disease in the Republic. An unexpected finding was the detection of Coxiella burnetii DNA in ticks and in clinical material. In the Republic of Buryatia Q-fever was detected by laboratory diagnostics for the first time. This fact confirms the circulation of this pathogen in the region. In this regard, the authors conducted a retrospective analysis of the medical histories of patients who were found to have genetic markers of Q-fever.

Download Full-text

Time and Latitude in South Africa

International Astronomical Union Colloquium ◽

10.1017/s0252921100026816 ◽

1972 ◽

Vol 1 ◽

pp. 27-38

Author(s):

J. Hers

Keyword(s):

South Africa ◽

Cape Town ◽

Astronomical Observations ◽

Royal Observatory ◽

The Republic ◽

Astronomical Determination ◽

Limited Accuracy ◽

Better Than

In South Africa the modern outlook towards time may be said to have started in 1948. Both the two major observatories, The Royal Observatory in Cape Town and the Union Observatory (now known as the Republic Observatory) in Johannesburg had, of course, been involved in the astronomical determination of time almost from their inception, and the Johannesburg Observatory has been responsible for the official time of South Africa since 1908. However the pendulum clocks then in use could not be relied on to provide an accuracy better than about 1/10 second, which was of the same order as that of the astronomical observations. It is doubtful if much use was made of even this limited accuracy outside the two observatories, and although there may – occasionally have been a demand for more accurate time, it was certainly not voiced.

Download Full-text

Applying Item Response Theory Modeling to Identify Social (Pragmatic) Communication Disorder

Journal of Speech Language and Hearing Research ◽

10.1044/2020_jslhr-19-00284 ◽

2020 ◽

Vol 63 (6) ◽

pp. 1916-1932 ◽

Cited By ~ 1

Author(s):

Haiying Yuan ◽

Christine Dollaghan

Keyword(s):

Item Response Theory ◽

Item Response ◽

Sensitivity And Specificity ◽

Social Communication ◽

National Database ◽

Communication Disorder ◽

Social Communication Questionnaire ◽

Autism Research ◽

The Social ◽

Pragmatic Communication

Purpose No diagnostic tools exist for identifying social (pragmatic) communication disorder (SPCD), a new Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition category for individuals with social communication deficits but not the repetitive, restricted behaviors and interests (RRBIs) that would qualify them for a diagnosis of autism spectrum disorder (ASD). We explored the value of items from a widely used screening measure of ASD for distinguishing SPCD from typical controls (TC; Aim 1) and from ASD (Aim 2). Method We applied item response theory (IRT) modeling to Social Communication Questionnaire–Lifetime ( Rutter, Bailey, & Lord, 2003 ) records available in the National Database for Autism Research. We defined records from putative SPCD ( n = 54), ASD ( n = 278), and TC ( n = 274) groups retrospectively, based on National Database for Autism Research classifications and Autism Diagnostic Interview–Revised responses. After assessing model assumptions, estimating model parameters, and measuring model fit, we identified items in the social communication and RRBI domains that were maximally informative in differentiating the groups. Results IRT modeling identified a set of seven social communication items that distinguished SPCD from TC with sensitivity and specificity > 80%. A set of five RRBI items was less successful in distinguishing SPCD from ASD (sensitivity and specificity < 70%). Conclusion The IRT modeling approach and the Social Communication Questionnaire–Lifetime item sets it identified may be useful in efforts to construct screening and diagnostic measures for SPCD.

Download Full-text