scholarly journals CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE

2021 ◽  
Vol 27 (4) ◽  
pp. 4133-4138
Author(s):  
Lyudmila Angelova ◽  
◽  
Maria Tsvetkova ◽  
Mariya Levkova ◽  
◽  
...  
Keyword(s):  
Statistical Significance ◽  
Chromosomal Polymorphism ◽  
Chromosome Polymorphism ◽  
Sex Distribution ◽  
Conventional Cytogenetic Analysis ◽  
Frequent Finding ◽  
Acrocentric Chromosomes ◽  
Chromosomal Polymorphisms ◽  
Bulgarian Population ◽  
Infertile Patients

Chromosomal polymorphism is described as normal variants at chromosomal regions with no impact on the phenotype but a possible correlation to infertility and recurrent spontaneous abortions. The aim of this study was to evaluate the effect of the chromosomal polymorphisms involved in families with reproductive failures in the Bulgarian population. Material and methods: A total of 1733 patients with unexplained reproductive failures who visited the Laboratory of Medical Genetics – Varna, Bulgaria, (2004 - 2019) were investigated by conventional cytogenetic analysis GTG and CBG differential banding techniques and analyzed at the resolution 400-550 GTG bands. Results: Chromosomal polymorphisms were found in 173 infertile patients (9,98%). The sex distribution was 6,52% males and 3,46% females. The most frequent finding was inv(9)(qh) (23,7%). The other chromosomal variants, which were found, consisted: 9qh+/- variants (15,1%); polymorphisms on the short arms of the acrocentric chromosomes (21,4%); 16qh+ (12,7%) and 1qh+ (6,9%). Y chromosome polymorphism was found in 27,4% of the males with polymorphisms. Two rare cases of polymorphism involving the centromere regions - 19qcenh+ and 20pcenh+ were also found. Conclusion: There is growing evidence that polymorphisms may have a clinical impact on fertility and could take part in the etiology of RF. In this study, we found a significantly high percentage of polymorphisms (9,98%) among the tested patients, and they were more common among males. The statistical significance of increased incidence of chromosome variations found in our study emphasizes the need for routine evaluation of their role in families with RF in our country.

scholarly journals Chromosomal Polymorphisms Involved in Reproductive Failure in the Romanian Population

2012 ◽  
Vol 15 (2) ◽  
pp. 23-28 ◽  
Author(s):  
D. Mierla ◽  
V. Stoian
Keyword(s):  
Retrospective Study ◽  
Statistical Significance ◽  
Reproductive Failure ◽  
Memorial Hospital ◽  
Control Group ◽  
Chromosomal Polymorphisms ◽  
Romanian Population ◽  
Infertile Patients

ABSTRACT Cytogenetic heteromorphisms are described as variations at specific chromosomal regions with no impact on phenotype. The purpose of this study was to investigate the effects of these chromosomal polymorphisms involved in reproductive failure in the Romanian population. One thousand eight hundred and nine infertile patients, who were referred to Life Memorial Hospital, Bucharest, Romania, between January 2008 and April 2011, were investigated in this retrospective study. The frequency of chromosomal polymorphic variations was calculated for these patients. The control group is represented by 1116 fetuses investigated by amniocentesis between January 2009 and April 2011. In this study 122 (6.74%) infertile patients and 63 fetuses (5.65%) showed chromosomal polymorphic variations. The differences between the two groups was not statistically significant (p <0.242) but there was statistical significance for some specific chromosomal polymor- phisms [inv(9),1qh+, 9qh+, fra(17)]. Some chromosomal polymorphic variations appear to be associated with reproductive failure. The statistically significantly higher incidence of heterochromatic variations found in infertile individuals emphasizes the need to assess their role in infertility and subfertility.

scholarly journals Effects of Anti-Diabetic Drugs on Fracture Risk: A Systematic Review and Network Meta-Analysis

2021 ◽  
Vol 12 ◽  
Author(s):  
Yu-Sheng Zhang ◽  
Yan-Dan Zheng ◽  
Yan Yuan ◽  
Shi-Chun Chen ◽  
Bao-Cheng Xie
Keyword(s):  
Systematic Review ◽  
Fracture Risk ◽  
Meta Analysis ◽  
Statistical Significance ◽  
Treatment Strategies ◽  
Sex Distribution ◽  
Risk Of Fracture ◽  
Dipeptidyl Peptidase 4 ◽  
Combining Data ◽  
Glucagon Like Peptide 1

PurposeAvailable data on the effects of anti-diabetic drugs on fracture risk are contradictory. Therefore, our study aimed to analyze all available data on the effects of anti-diabetic drugs on fracture risk in type 2 diabetes mellitus (T2DM) patients.MethodsEmbase, Medline, ClinicalTrials.gov, and Cochrane CENTRAL were searched for relevant trials. All data analyses were performed with STATA (12.0) and R language (3.6.0). Risk ratio (RR) with its 95% confidence interval (CI) was calculated by combining data for the fracture effects of anti-diabetic drugs, including sodium–glucose co-transporter 2 (SGLT2) inhibitors, dipeptidyl peptidase-4 (DPP-4) inhibitors, glucagon-like peptide-1 (GLP-1) receptor agonists, meglitinides, α-glucosidase inhibitors, thiazolidinediones, biguanides, insulin, and sulfonylureas.ResultsOne hundred seventeen eligible randomized controlled trials (RCTs) with 221,364 participants were included in this study. Compared with placebo, trelagliptin (RR 3.51; 1.58–13.70) increased the risk of fracture, whereas albiglutide (RR 0.29; 0.04–0.93) and voglibose (RR 0.03; 0–0.11) decreased the risk of fracture. Other medications were comparable in terms of their effects on fracture risk, and no statistical significance was observed. In terms of fractures, voglibose (0.01%) may be the safest option, and trelagliptin (13.64%) may be the worst. Sensitivity analysis results were consistent with those of the main analysis. No statistically significant differences were observed in the regression coefficients of age (1.03; 0.32–2.1), follow-up duration (0.79; 0.27–1.64), and sex distribution (0.63; 0.15–1.56).ConclusionsWe found varied results on the association between the use of anti-diabetic drugs and fracture risk. Specifically, trelagliptin raised the risk of fracture, whereas voglibose and albiglutide showed benefit with statistical difference. Other drugs were comparable in terms of their effects on fracture risk. Some drugs (omarigliptin, sitagliptin, vildagliptin, saxagliptin, empagliflozin, ertugliflozin, rosiglitazone, pioglitazone, and nateglinide) may increase the risk of fracture, while others (such as dulaglutide, exenatide, liraglutide, semaglutide, lixisenatide, linagliptin, alogliptin, canagliflozin, dapagliflozin, glipizide, gliclazide, glibenclamide, glimepiride, metformin, and insulin) may show benefits. The risk of fracture was independent of age, sex distribution, and the duration of exposure to anti-diabetic drugs. When developing individualized treatment strategies, the clinical efficacy of anti-diabetic drugs must be weighed against their benefits and risks brought about by individual differences of patients.Systematic Review RegistrationThis Systematic Review was prospectively registered on the PROSPERO (https://www.crd.york.ac.uk/PROSPERO/, registration number CRD42020189464).

Echocardiography and Laboratory Factors Associated With Prolonged Postoperative Pericardial Effusion

2022 ◽  
pp. 875647932110702
Author(s):  
Rrezarta Alihajdaraj ◽  
Adem Grbolar ◽  
Xhevdet Krasniqi ◽  
Tefik Bekteshi ◽  
Aurora Bakalli
Keyword(s):  
Pericardial Effusion ◽  
Statistical Significance ◽  
Artery Bypass ◽  
Global Longitudinal Strain ◽  
Cross Sectional Study ◽  
Left Ventricular ◽  
Limited Data ◽  
Cross Sectional ◽  
Frequent Finding

Objective: Pericardial effusion is a frequent finding in patients who undergo cardiac surgery. There are currently limited data providing information regarding the factors that may contribute to postoperative pericarditis. The aim was to evaluate laboratory and echocardiographic features that may influence the presence of pericardial effusion 6 to 8 weeks following coronary artery bypass grafting (CABG). Materials and Methods: This was a prospective cross-sectional study that included 90 patients after CABG operation who were divided into two groups. A total of 32 (35.56%) patients with pericardial effusion on follow-up echocardiography formed the first group and 58 patients without pericardial effusion the second group, which were compared in respect to components that were taken prior to the operation. Results: The groups did not differ regarding sex (males 65.62% vs 63.79%, P = .86) or age (59.59 ± 9.29 vs 61.69 ± 10.71, P = .35). Platelet count (184.74 ± 58.79 vs 222.62 ± 88.97, P = .03) and left ventricular (LV) global longitudinal strain (GLS) (−14.64 ± 6.86 vs −16.96 ± 4.1, P = .04) demonstrated statistical significance. Conclusion: Prolonged postoperative pericardial effusion in small amounts may be found in patients, with preoperative lower thrombocyte count and LV GLS, which could be possible predisposing factors.

scholarly journals KARYOTYPIC ANALYSIS OF CHROMOSOMAL POLYMORPHISM IN RELATION TO REPRODUCTIVE FAILURE

2017 ◽  
Vol 9 (4) ◽  
pp. 140
Author(s):  
Ketan K. Vaghasia ◽  
Nidhi D. Shah ◽  
Parth S. Shah ◽  
Vidhi M. Bhatt ◽  
Sandip C. Shah ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Cytogenetic Analysis ◽  
Reproductive Function ◽  
Chromosomal Polymorphism ◽  
Giemsa Staining ◽  
Karyotypic Analysis ◽  
Blood Samples ◽  
Molecular Studies ◽  
Acrocentric Chromosomes

Objective: This study was undertaken to elucidate the role of heteromorphism in causation of reproductive anomalies like infertility.Methods: In our study, cytogenetic analysis of 830 suspected referral cases of both sexes were assessed using standard karyotypic technique with Giemsa staining from their blood samples. We identified heteromorphism of D/G groups and non-acrocentric chromosomes following WHO nomenclature.Results: Our data revealed that most of our heteromorphic cases (38;4.58%) were related to p arm satellites (ps+) of the chromosomes and are related to infertility and abortion. No significant gender variation was noticed in this study.Conclusion: We hence, suggest that heteromorphism is associated with a loss of reproductive function, as heterochromatin may contain genes that regulate cellular roles in reproduction. Further, it becomes important that such cases are considered for molecular studies, genetic counseling and prenatal/pre-implantation screening.

scholarly journals Unusual chromosomal polymorphism of the common shrew, Sorex araneus L., in southern Belarus

2021 ◽  
Vol 15 (2) ◽  
pp. 159-169
Author(s):  
Iryna A. Kryshchuk ◽  
Victor N. Orlov ◽  
Elena V. Cherepanova ◽  
Yuri M. Borisov
Keyword(s):  
Chromosomal Rearrangements ◽  
Common Shrew ◽  
Chromosomal Polymorphism ◽  
Sorex Araneus ◽  
Chromosomal Form ◽  
Acrocentric Chromosomes ◽  
The Common ◽  
Common Shrew Sorex Araneus

Analysis of the frequency of karyotypes and chromosomal rearrangements in the distributional ranges of four metacentric races of Sorex araneus Linnaeus, 1758 has revealed features that are not typical for polymorphic populations of this species. The frequency of the acrocentric karyotype and heterozygotes for fusion of acrocentric chromosomes turned out to be significantly higher than expected in case of random crossing. As an explanation for the unusual polymorphism, it has been suggested that metacentric races may hybridize with acrocentric populations that remained from the ancient chromosomal form.

scholarly journals Chromosome polymorphism in species of the genus Hedysarum L. (Fabaceae) originated from Southern Sibеria

2020 ◽  
Vol 19 (1) ◽  
pp. 14-16
Author(s):  
O. Yu. Yurkevich ◽  
T. E. Samatadze ◽  
I. Yu. Selyutina ◽  
S. I. Romashkina ◽  
S. A. Zoshchuk ◽  
...  
Keyword(s):  
Close Relationships ◽  
5S Rdna ◽  
Chromosomal Polymorphism ◽  
Rdna Locus ◽  
Chromosome Polymorphism ◽  
45S Rdna ◽  
High Similarity ◽  
Southern Siberia ◽  
Molecular Cytogenetic ◽  
First Time

For the first time, chromosomal polymorphism in karyotypes of three species from the section Hedysarum (= syn. Gamotion) of the genus Hedysarum L. (Fabaceae) grown in Southern Siberia has been studied with the useof molecular cytogenetic markers. This comparative molecular cytogenetic analysis revealed high similarity in morphology of chromosomes in H. alpinum L., H. austrosibiricum B. Fedtsch. and H. theinum Krasnob. as well as in patterns ofdistribution of 45S and 5S rDNA loci in their karyotypes confirming their close relationships. Considerable intra-specificpolymorphism on 45S rDNA chromosome localization was detected in H. theinum. In karyotype of H. alpinum, unlikethe other two species, two chromosome pairs bearing 5S rDNA locus were observed which could be used as additionalspecies-specific markers.

scholarly journals COLD TEMPERATURE RESISTANCE, CHROMOSOMAL POLYMORPHISM AND INTERPOPULATION HETEROSIS IN DROSOPHILA PSEUDOOBSCURA

Genetics ◽  
1974 ◽  
Vol 76 (4) ◽  
pp. 807-822
Author(s):  
Margaret C Jefferson ◽  
David W Crumpacker ◽  
James S Williams
Keyword(s):  
Cold Resistance ◽  
Developmental Stages ◽  
Chromosomal Polymorphism ◽  
Drosophila Pseudoobscura ◽  
Temperature Resistance ◽  
Low Humidity ◽  
Reverse Situation ◽  
Chromosomal Polymorphisms ◽  
Better Than ◽  
Third Instar Larvae

ABSTRACT Descendants of two Colorado, U.S.A., populations of D. pseudoobscura, Boulder and La Foret, were exposed to +2° and -2°. In third instar larvae from Boulder AR and PP third chromosome gene arrangements survived better than TL and others, while the reverse situation occurred for La Foret. Deleterious dominant effects were observed for AR from La Foret. In adults from Boulder there was a trend towards greater survival for AR and PP than for other gene arrangements, while AR from La Foret showed relatively poor cold resistance. Survival of Boulder and La Foret flies, and their interpopulation hybrid, was determined after exposure to -2° at two humidities. Order of survival of developmental stages was: adults &gt;&gt; third instar larvae &gt; mixture of first and second instar larvae. Adults survived better at low humidity, while larvae survived better at high humidity. Boulder adults and larvae survived better than those from La Foret. Advantage in survival of hybrids over the midparent ranged from 23% to 138%. Hybrid advantage over the higher parent ranged from 5% to 111%. Order of expression of heterosis was: mixture of first and second instar larvae &gt; third instar larvae &gt; adults. Relation of all results to the chromosomal polymorphisms at Boulder (seasonally constant) and La Foret (seasonally cyclic) is discussed.

CHROMOSOME POLYMORPHISM IN INTERBRED SUBSPECIES OF PEROMYSCUS MANICULATUS (DEER MOUSE)

1971 ◽  
Vol 13 (2) ◽  
pp. 277-282 ◽  
Author(s):  
Robert S. Sparkes ◽  
David T. Arakaki
Keyword(s):  
North America ◽  
Peromyscus Maniculatus ◽  
Deer Mouse ◽  
Chromosomal Polymorphism ◽  
Deer Mice ◽  
Chromosome Polymorphism ◽  
Widespread Distribution ◽  
Pericentric Inversions ◽  
Karyotype Analyses

Karyotype analyses of eight animals from an interbreeding colony of three subspecies of Peromyscus maniculatus (P.m. gambelli, P.m. rubidus, and P.m. sonoriensis) demonstrated a chromosomal polymorphism, probably due to pericentric inversions involving at least seven chromosomes. This polymorphism may require consideration in the cytogenetic taxonomy of these animals, and may be related to the widespread distribution of deer mice in North America and their apparent adaptability to many different environments.

scholarly journals Analysis of Single Nucleotide Polymorphisms on Locus 13q33.1-34 in Multigenerational Families of Cleft Lip Palate using MassArray

2021 ◽  
Vol 13 (1) ◽  
pp. 27-33
Author(s):  
Praveen Kumar Neela ◽  
Srinivas Reddy Gosla ◽  
Akhter Husain ◽  
Vasavi Mohan ◽  
Sravya Thumoju ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Haplotype Analysis ◽  
Statistical Significance ◽  
Genetic Research ◽  
Allelic Association ◽  
Chromosome Polymorphism ◽  
Single Nucleotide ◽  
Multigenerational Families ◽  
Significant Difference ◽  
Cleft Lip Palate

BACKGROUND: Cleft lip palate is a common congenital anomaly with multifactorial etiology. Many high-risk markers at different loci were reported to be involved in its etiology. Advanced genetic research led to the discovery of evidence of a new linkage on 13q33.1-34 region at marker rs1830756 in two multigenerational Indian families. However, no further study was reported to confirm or validate this linkage in other families. Hence, the present study was designed.METHODS: Twenty multigenerational families affected by non-syndromic cleft lip palate were selected for the study. Polymorphisms, rs1830756, rs1323672, rs1935135 of FAM155A gene; rs1961495, rs953386, rs1411040 of COL4A1 gene; and rs726449, rs984300 of MYO16 gene were selected. Genomic DNA was isolated and sent for genetic analysis by single nucleotide polymorphism (SNP) genotyping using the MassArray method. Statistical analysis of the genomic data was done by PLINK. Bonferroni correction was applied and haplotype analysis was done using Haploview software.RESULTS: Polymorphisms followed the Hardy Weinberg Equilibrium. In the allelic association, all the polymorphisms analysed showed no statistical significance. Hence, there was no significant difference in the allelic frequencies between non-syndromic cleft lip palate patients and healthy controls. The odds ratio was not more than 1.6 for all the SNPs. Haplotype analysis showed that haplotypes were not significantly higher in non-syndromic cleft patients than in control subjects.CONCLUSION: There is no association between SNPs analysed in the locus 13q33.1-34 with cleft lip palate.KEYWORDS: cleft lip palate, chromosome, polymorphism

scholarly journals Chromosome polymorphism in Ancistrus cuiabae Knaack, 1999 (Siluriformes: Loricariidae: Ancistrini)

2009 ◽  
Vol 7 (4) ◽  
pp. 595-600 ◽  
Author(s):  
Sandra Mariotto ◽  
Liano Centofante ◽  
Carlos S. Miyazawa ◽  
Luiz Antonio Carlos Bertollo ◽  
Orlando Moreira Filho
Keyword(s):  
Chromosome Pair ◽  
Acrocentric Chromosome ◽  
Chromosomal Polymorphism ◽  
Chromosomal Evolution ◽  
Metacentric Chromosome ◽  
Chromosome Polymorphism ◽  
Single Male ◽  
Mato Grosso ◽  
Rdna Sites ◽  
The Town

Cytogenetic and FISH analyses were performed in 30 Ancistrus cuiabae specimens from a bay near the town of Poconé, in the Pantanal of Mato Grosso, Brazil. The observed diploid number was 2n = 34 chromosomes for both sexes and three distinct katyotypic formulae were found, namely cytotype A (20m, 8sm, 6st, Fundamental Number/FN = 68; 6 males and 11 females), cytotype B (19m, 8sm, 6st, 1a, FN = 67; 8 males and 4 females) and cytotype C (18m, 8sm, 6st, 2a, FN = 66; a single male). NORs's analyses showed that these regions were located in distinct sites on the NOR-bearing chromosome pair, according to cytotypes. Thus, in cytotype A, NORs were located in the terminal region of the short arm of the second metacentric chromosome pair; in cytotype B, they were detected in the short arm of the metacentric chromosome and interstitially on the acrocentric chromosome and, in cytotype C, NORs were observed in the interstitial region of the acrocentric chromosome pair. C-positive heterochromatic bands were adjacent to the rDNA sites in the corresponding chromosomes. Thus, the chromosomal polymorphism of A. cuiabae was probably originated through a pericentric inversion in chromosome pair nº 2 involving the NOR sites, which represents a novelty in the Ancistrini tribe. The results also broaden the knowledge of the chromosomal evolution in Ancistrus, the most derived genus of the Ancistrini tribe.

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