scholarly journals Polymorphism of ABO*O alleles and its clinical significance

2021 ◽  
Vol 16 (4) ◽  
pp. 83-89
Author(s):  
L. L. Golovkina ◽  
R. S. Kalandarov ◽  
O. S. Pshenichnikova ◽  
V. L. Surin ◽  
A. G. Stremoukhova ◽  
...  

Background. 62 ABO*O alleles of the ABO system are known. Some ABO*O alleles may be accompanied by the presence of residual A-glycosyltransferase activity in people of group O, which may lead to errors in determining the blood group. This confirms the important clinical significance of the ABO*O allele polymorphism. Knowledge of ABO*O gene polymorphisms and their prevalence contributes to the prevention of errors in determining the blood group of the ABO system.Objective: to study allele variants of the ABO*O gene in Russians.Materials and methods. The blood samples of 14,000 people were examined. The blood group was determined using anti-A, anti-Aweak, anti-B, lectin (anti-A1) and gel cards, as well as by cross-sectional method using standard red blood cells of O, A, and B groups. In one patient, the method of adsorption-elution with cold elution was used to identify a weak variant of antigen A, and the method of thermal elution was used to eliminate antigen- blocking plasma factors. Molecular determination of ABO*O alleles was performed in 130 individuals by polymerase chain reaction with sequence- specific primers and Sanger direct sequencing.Results. 13 allelic variants of the ABO*O gene were identified (10 with a typical deletion of c.261delG / N and 3 nondeletional alleles with polymorphism c.802G>A). Deletion alleles of ABO*O.01 were found in 92.85 % of the examined patients, nondeletion alleles of АВО*О.02 group – in 7.15 % of cases. The ABO*O.01.01 allele was detected with a frequency of 67.14 %, other deletion alleles – much less frequently: ABO*O.01.02 and ABO*O.01.11 – 5.71 %, ABO*O.01.26 – 5.00 %, ABO*O.01.12 – 4.30 %, ABO*O.01.13 and ABO*O.01.44 – 1.43 %, ABO*O.01.05, ABO*O.01.46, ABO*O.01.68 – 0.71 % each. Non-deletional alleles were found with the following frequencies: ABO*O.02.01 – 4.3 %, ABO*O.02.03 allele – 2.14 %, ABO*O.02.02 – 0.71 %. All individuals with the O group with the nondeletional allele had the Oαβ group, except for one patient (with the ABO*O.01.02 O.02.02 genotype), who had the Oβ group.Conclusion. For the first time, the immunogenetic characteristics of Russians are given according to ABO*O genes. Erythrocyte genomics helps to resolve the ambiguity of serological methods results and allows understanding mechanisms of different phenotypes formation. For the correct definition of natural isohemagglutinins and weak antigens variants should be used at least two different serological methods.

2017 ◽  
Vol 28 (5) ◽  
pp. 615-635
Author(s):  
Semra Atasayar ◽  
Sevil Guler Demir

This descriptive, cross-sectional study investigated problems experienced by patients after undergoing a thyroidectomy. The study included 60 first-time, post-thyroidectomy patients diagnosed with benign thyroid disease from a university hospital’s general surgery clinic in Ankara, Turkey. The data were collected in two stages: interviews with patients on the first day following surgery and postoperative follow-up telephone interviews in each of the first 4 weeks following surgery. The follow-ups revealed that patients principally experienced varying degrees of pain and difficulties in connection with work and recreation, communication, body image, and movement, for up to 4 weeks after surgery. These results showed that patients were particularly prone to problems on the first day and during the first week of the postoperative period; therefore, patients should be provided with follow-up telephone interviews to facilitate easier recovery and to help them overcome any problems experienced during the postoperative period.


Author(s):  
Danilo Machado Lawinscky da Silva ◽  
Rodrigo Almeida Bahiense ◽  
Breno Pinheriro Jacob ◽  
Fernando Gomes da Silva Torres ◽  
Antonio Roberto Medeiros ◽  
...  

Conventional offshore pipeline installation operations in Brazil have been performed in an S-Lay procedure employing the BGL-1 barge, owned by Petrobras. However, this procedure has some limits, and may not be feasible in some particular scenarios. Therefore, the objective of this work is to present the numerical simulation of an alternative pipeline installation procedure. This procedure basically consists of performing the pipeline assembly on shore, and deflecting it to the sea using a tug boat. The numerical simulations employ the SITUA-Prosim computational tool, which is able to incorporate the correct definition of the seabed and shore from bathymetric curves. An actual pipeline installation by this lateral deflection procedure is analyzed and discussed. The characterization of the procedure passes through the determination of the better velocity and direction of the tug boat in order to minimize the efforts on the pipeline (especially due to the curvatures).


2020 ◽  
Vol 65 (4) ◽  
pp. 216-221
Author(s):  
Frida Nasyrovna Gilmiyarova ◽  
N. A. Kolotyeva ◽  
V. I. Kuzmicheva ◽  
O. A. Gusyakova ◽  
I. A. Borodina ◽  
...  

AB0 blood group antigens were discovered over a century ago; however, it is still important to study their role in development of various pathological conditions. Today it is known that antigenic determinants of this blood group are present not only on erythrocyte membrane but also on other cells and tissues: platelets, gastrointestinal epithelium and salivary glands, respiratory system cells. In the last decade, a large number of studies have appeared to reveal the relationship between a specific disease and blood group type, meta-analyses have been published. Previously, the authors have studied the metabolic status, cell composition and coagulation profile of clinically healthy individuals for more than on 180,000 donations, that allowed to identify group-specific features for each blood group. This review presents generalized data on the association of such pathological conditions as coronary heart disease, thromboembolic complications, tumors of various localizations, inflammatory and destructive oral diseases, psychiatric and some infectious diseases with the presence or absence of antigenic determinants A and B. Carriers of blood group 0 (I) are generally more resistant to diseases, with the exception of H.pylori-associated gastrointestinal diseases. Carriers of «antigenic» blood groups A (II), B (III), AB (IV) are more susceptible to development of infectious, cardiovascular and cancer diseases. The presented data demonstrate clinical significance of the definition of group typing not only for selection of blood and its components during transfusion and transplantation, but also for diagnostics, determination of risk group and tactics for treatment patients with different nosologies.


Author(s):  
Oksana Veklych

The definition of economic damage from the deterioration/destruction of ecosystem services and analytical structuring of the economic loss from it were given for the first time. It was proposed and disclosed the logic-structural scheme that describes the algorithm of the sequence of actions and calculations for carrying out the cost estimation of damage from deterioration/destruction of ecosystem services in order to further substantiate the recommendations for additional filling of local budgets and attraction of targeted investments for implementation of projects aimed at conservation and restoration ecosystems.


2009 ◽  
Vol 20 (03) ◽  
pp. 423-433 ◽  
Author(s):  
CHUNYU LI ◽  
TSU-WEI CHOU

This paper confirms the applicability of a newly developed efficient algorithm, the direct electrifying method, for identifying backbone for 3D site and bond percolating networks. This algorithm is based on the current-carrying definition of backbone and carried out on the predetermined spanning cluster, which is assumed to be a resistor network. The scaling exponents so obtained for backbone mass, red bonds, and conductivity are in very good agreement with some existing results. The perfectly balanced bonds in 3D backbone structures are predicted first time to be 0.00179 ± 0.00009 and 0.00604 ± 0.00008 of the backbone mass for bond and site percolations, respectively.


Author(s):  
V. M. Moishyshyn ◽  
Y. S. Biletskii ◽  
V. V. Vryukalo ◽  
M. V. Seniushkovych

The processes of displacement of drilling clay backfill flow from the intertubular space formed by internal surface of external and external surfaces of inner tubes are considered. In case of eccentric placement of pipes it is proposed in the form of a cross-section of the flow of a backfill to take the area limited from the outside by the Pascal's snail, and from the inside - the outer surface of the inner pipe at the first time. The formulas for determining areas of the cross section of the flow and the stagnant zone, the perimeter and the hydraulic radius of the section ofthe flow for the eccentric placement of the pipes in the bore are proposed. The dimensionless parameter α is introduced as the ratio of the centripetal distance to difference between internal radius of outer pipe and outer radius of inner tube. It was found that with increasing of α cross-sectional area and their hydraulic radii are increasing, and the area of stagnant zones decreases according to parabolic laws.It is established that with the growth of α velocity of the backfill flow decreases according to parabolic laws and their values are in good agreement with the experimental data.


A new absolute determination of the acceleration due to gravity at the National Physical Laboratory has been made by timing the symmetrical free motion of a body moving under the attraction of gravity; it is the first time this method has been used. The moving body was a glass ball and it was timed at its passage across two horizontal planes by the flashes of light that it produced when it passed between two horizontal slits which served to define each plane optically, the ball focusing light from one of the slits, which was illuminated, upon the other slit which had a photomultiplier placed behind it. The separation of the two planes defined by the pairs of slits was measured interferometrically and referred directly to the international wavelength definition of the metre, while the time intervals were measured in terms of the atomic unit of time scale A l. The value of gravity as reduced to the British Fundamental Gravity Station in the N. P. L. is 981 181.75 mgal, s.d. 0.13 mgal (1 mgal = 10 -5 m/s 2 ). Systematic errors, are believed to be very small; this is particularly true of the error due to air resistance. The main contribution to the observed scatter of the results comes from microseismic disturbances. The new result is 1.4 mgal less than that obtained at the fundamental station by J. S. Clark (1939) using a reversible pendulum . It is very close to the mean of a number of recent absolute determinations by other methods, but this may not be very significant because the uncertainties of those determinations and of the comparisons between the sites at which they were made and the present site are not less than 5 times the standard deviation of the new result.


2012 ◽  
Vol 32 (6) ◽  
pp. 343-353 ◽  
Author(s):  
Farid Cherbal ◽  
Nadjet Salhi ◽  
Rabah Bakour ◽  
Saida Adane ◽  
Kada Boualga ◽  
...  

Background: BRCA1andBRCA2germline mutations predispose heterozygous carriers to hereditary breast/ovarian cancer. However, unclassified variants (UVs) (variants with unknown clinical significance) and missense polymorphisms inBRCA1andBRCA2genes pose a problem in genetic counseling, as their impact on risk of breast and ovarian cancer is still unclear. The objective of our study was to identify UVs and missense polymorphisms in Algerian breast/ovarian cancer patients and relatives tested previously forBRCA1andBRCA2genes germline mutations analysis.Methods: We analyzed 101 DNA samples from 79 breast/ovarian cancer families. The approach used is based onBRCA1andBRCA2sequence variants screening by SSCP or High-Resolution Melting (HRM) curve analysis followed by direct sequencing. In silico analyses have been performed using different bioinformatics programs to individualize genetics variations that can disrupt theBRCA1andBRCA2genes function.Results: Among 80 UVs and polymorphisms detected inBRCA1/2genes (33BRCA2and 47BRCA2), 31 were new UVs (10BRCA2and 21BRCA2), 7 were rare UVs (4BRCA2and 3BRCA2) and 42 were polymorphic variants (19BRCA2and 23BRCA2). Moreover, 8 new missense UVs identified in this study: twoBRCA1(c.4066C>A/p.Gln1356Lys, c.4901G>T/p.Arg1634Met) located respectively in exons 11 and 16, and sixBRCA2(c.1099G>A/p.Asp367Asn, c.2636C>A/p.Ser879Tyr, c.3868T>A/p.Cys1290Ser, c.5428G>T/p.Val1810Phe, c.6346C>G/p.His2116Asp and c.9256G>A/p.Gly3086Arg) located respectively in exons 10, 11 and 24, show a damaging PSIC score yielded by PolyPhen2 program and could be pathogenic. In addition, 5 newBRCA2missense UVs out of six that were found to be damaging by PolyPhen2 program, also were deleterious according to SIFT program. The rareBRCA2UV c.5332G>A/p.Asp1778Asn was found here for the first time in co-occurrence in trans with the deleteriousBRCA1mutation c.798_799delTT/p.Ser267LysfsX19 in young breast cancer patient. Moreover, 10 new identified intronic variants with unknown clinical significance (3BRCA1and 7BRCA2) in the present study, could be considered as benign, because GeneSplicer, SpliceSiteFinder and MaxEntScan prediction programs show no splice site alteration for these variants. Several missense polymorphisms ofBRCA1c.2612C>T/p.Pro871Leu, c.3548A>G/p.Lys1183Arg, c.4837A>G/p.Ser1613Gly andBRCA2c.865A>C/p.Asn289His, c.1114A>C/p.Asn372His, c.2971A>G/p.Asn991Asp, c.7150C>A/p.Gly2384Lys have been identified with high frequency in patients who were tested negative forBRCA1andBRCA2mutations. These missense polymorphisms could have a role as susceptibility breast cancer markers in Algerian breast/ovarian cancer families where pathologicalBRCA1andBRCA2mutations were not present.Conclusions: For the first time, UVs and missense polymorphisms inBRCA1andBRCA2genes have been identified in Algerian breast/ovarian cancer families. Evaluation of breast/ovarian cancer risk induced by the eight new missense UVs and common polymorphisms detected in our present work is on going in a larger study.


Author(s):  
Darshan Kharadi ◽  
Chintan M. Doshi

Background: Spontaneous reporting of adverse drug reaction (ADR) is main part of pharmacovigilance. This study was done to assess knowledge, attitude and practice (KAP) of pharmacovigilance among 2nd year medical students.Methods: This was a questionnaire based cross sectional study. The study participants were 2nd year MBBS students at pacific institute of medical sciences. Total number of questions given was 20. The data was analyzed by MS excel.Results: Total 100 students were given 20 questions. Among 20 questions, 10 were based on knowledge, 4 were based on attitude and 5 were based on practice. One question was asked to determine the reasons for underreporting. 95% students gave correct definition of pharmacovigilance. 96% students were having knowledge about existing National pharmacovigilance programme of India. 97% gave correct answer of side effect occurring during pregnancy as teratogenicity. 99 % said that reporting ADR is necessary.Conclusions: In our study most of the students gave correct answers of knowledge based questions. So knowledge of pharmacovigilance is gradually improving among medical students.


2018 ◽  
Vol 7 (1) ◽  
pp. 26-34
Author(s):  
Arati Timilsina ◽  
Shilpa Mahat

Avian influenza is currently a threat to global health. Prevention and control of Avian influenza depends on the knowledge and preventive practices of the poultry workers as well as general population. This article aims to assess the knowledge and preventive practices related to Avian influenza among poultry workers in Pokhara. Descriptive cross sectional study was conducted among 108 poultry workers in Pokhara using purposive sampling. Data was collected through face to face interview using structured interview schedule. The obtained data was analyzed by using descriptive (frequency, percentage, mean and standard deviation) and inferential statistics (Pearson correlation). The findings revealed that only 11.1 percent of the respondents had good knowledge. Only 26.9 percent gave correct answer about causative agent and three out of four gave correct definition of Avian influenza. Nearly two-third of the respondents had good practice of preventive measures. There was no significant relationship (r= 0.117, p= 0.226) between knowledge and practice score. The study concludes that the knowledge of Avian Influenza among poultry workers was low and the Practice was found relatively better. The groups should be targeted for appropriate intervention based on knowledge.


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