scholarly journals The ACE and ACTN3 polymorphisms in female soccer athletes

2021 ◽  
Vol 43 (1) ◽  
Author(s):  
Qi Wei

Abstract Objects We investigated the association of ACE I/D and ACTN3 R577X polymorphisms with the performance of Chinese elite female soccer athletes for the first time. Material and methods The genotype distributions of ACE I/D and ACTN3 R577X in the athlete group and the control group of Chinese females were evaluated via PCR and compared. VO2max value was tested as per standard protocol. Results Regarding the distribution of ACE polymorphisms, the genotype frequency was indifferent between the athletes (II 40 %, ID 46.7 %, DD 13.3 %) and the controls (II 42 %, ID 48 %, DD 10 %). No difference in the I/D allele frequency was observed between the athlete group and the control group. Regarding the distribution of ACTN3 polymorphisms, the genotype frequency was significantly different between the athletes (XX 0 %, XR 53.3 %, RR 46.7 %) and the controls (XX 16 %, XR 44 %, RR 40 %). The allele frequency was observed no different between the athlete and the control group. The ACE ID and ACTN3 RR genotype combination was associated with higher VO2max values among defenders than among other players. According to VO2max values,The ACE and ACTN3 genotype combinations (II/ID/DD + RR/XR) significantly differed between the athletes and the controls (p < 0.05). Conclusion These results suggested that the Chinese elite female soccer athletes were more likely to harbor the I allele and the R allele and that the combination of ACE II/ID and ACTN3 RR/XR was a synergetic determinant of the athletic performance of females in soccer.

2018 ◽  
Vol 1 (3) ◽  
Author(s):  
Qi Wei

Objective The performance phenotype is regulated by polygenes .There were few reports about the cumulative effect of the I/D polymorphism in the angiotensin I-converting enzyme (ACE) gene and ACTN3 in athletes.This study was to investigate the association of ACEI/D and ACTN3 R577X polymorphisms with the performance of Chinese elite female soccer athletes for the first time.  Methods The genotype distributions of ACE I/D and ACTN3 R577X in the athlete group (N=92) and the control group of Chinese females (N=200) were evaluated via PCR and compared. Results Regarding the distribution of ACE polymorphisms, the genotype frequency was indifferent between the athletes (II 40.2%, ID 46.7%, DD 13.1%) and the controls (II 42%, ID 48%, DD 10%) based on the chi-square test. No difference in the I/D allele frequency was observed between the athlete group (I allele: 59.25%; D allele: 40.75%) and the control group (I allele: 60.8%; D allele: 39.2%). Regarding the distribution of ACTN3 polymorphisms, the genotype frequency was significantly different between the athletes (XX 0%, XR 53.3%, RR 46.7%) and the controls (XX 16%, XR 44%, RR 40%). The allele frequency was observed no different between the athlete and the control group (X allele:34.8%/41.7%; R allele: 65.2%/58.3%, respectively). The ACE and ACTN3 genotype combinations (II/ID/DD+RR/XR) significantly differed between the athletes and the controls by χ2 test (p<0.05). Conclusions These results suggested that the Chinese elite female soccer athletes were more likely to harbor the I allele and the R allele and that the combination of ACE II/ID and ACTN3 RR/XR was a synergetic determinant of the athletic performance of females in soccer.


2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
A Streltsova ◽  
A Gudkova ◽  
A Poliakova ◽  
S Pyko ◽  
A Kostareva

Abstract Purpose The aim of this study was to determine the impact of polymorphic variant rs1739843 of the hspb7 gene on clinical profile and outcomes in patients with hypertrophic cardiomyopathy (HCM). Methods The study population consisted of 108 patients with HCM ≥45 years old. The control group included 192 healthy donors. A novel disease pathway model, firstly designed in foreign outcome study (2017), was employed to assess clinical course of HCM. SNP rs1739843 of the hspb7 gene was genotyped by allele-specific real-time polymerase chain reaction (PCR) assay. Results It was found a significant increase in TT genotype frequency of rs1739843 of the hspb7 gene in patients with HCM (n=108) – 20.4%, compared with control group (n=192) – 4.2% (TT: TC+CC, odds ratio (OR) = 5.88, 95% confidence interval (CI) = 2.52–13.75, p<0.001). High prevalence of CC genotype of rs1739843 of the hspb7 gene was observed in control group – 80.2% vs 31.5% in HCM (CC: TC+TT, OR = 0.11, 95% CI = 0.07–0.19, p<0.001). The allele frequency (C: T) also differed between HCM and control groups – 55.6: 44.4% in HCM, vs 88.02: 11.98% in control group (OR = 5.88, 95% CI = 3.91–8.85, p<0.001). It was also found a significant increase in TT genotype frequency of rs1739843 of the hspb7 gene in HCM patients with benign course free of adverse pathways (n=48) – 16.7%, compared with control group (n=192) – 4.2% (TT: TC+CC, OR= 4.60, 95% CI = 1.63–12.99, p<0.001)). The allele frequency (C: T) in HCM patients with benign course free of adverse pathways was 56.3: 43.7% vs 88.02: 11.98% in control group (OR = 5.71, 95% CI= 3.44–9.49, p<0.001). The mortality rate of HCM patients with 1, 2 or 3 adverse pathways was higher compared with HCM patients with benign course free of adverse pathways. HCM patients ≥45 years old showed a significant increase in T allele frequency in cases of presence of 2 (CHF (chronic heart failure) III–IV functional class (NYHA) + AF (atrial fibrillation)) and 3 adverse pathways (CHF III-IV functional class (NYHA) + AF + SCD (sudden cardiac death) of HCM progression. Conclusions The T allele and TT genotype of rs1739843 of the hspb7 gene were more frequent in patients with HCM ≥45 years old, compared with control group. It was also found a significant increase in frequency of TT genotype and T allele of rs1739843 of the hspb7 gene in HCM patients with benign course free of adverse pathways, compared with control group. HCM progression along 2 and more adverse pathways in patients ≥45 years old has been characterized with adverse outcome. Allele T of rs1739843 of the hspb7 gene was associated with 2 and more adverse pathways of HCM progression.


2016 ◽  
Vol 37 (4) ◽  
pp. 213-222 ◽  
Author(s):  
Hansjörg Znoj ◽  
Sandra Abegglen ◽  
Ulrike Buchkremer ◽  
Michael Linden

Abstract. There is a growing interest in embitterment as psychological concept. However, little systematic research has been conducted to characterize this emotional reaction. Still, there is an ongoing debate about the distinctiveness of embitterment and its dimensions. Additionally, a categorical and a dimensional perspective on embitterment have been developed independently over the last decade. The present study investigates the dimensions of embitterment by bringing these two different approaches together, for the first time. The Bern Embitterment Inventory (BEI) was given to 49 patients diagnosed with “Posttraumatic Embitterment Disorder (PTED)” and a matched control group of 49 patients with psychological disorders with other dominant emotional dysregulations. The ability to discriminate between the two groups was assessed by t-tests and Receiver Operating Characteristic Curves (ROC curve analysis). PTED patients scored significantly higher on the BEI than the patients of the control group. ROC analyses indicated diagnostic accuracy of the inventory. Further, we conducted Confirmatory Factor Analyses (CFA) to examine the different dimensions of embitterment and their relations. As a result, we found four characteristic dimensions of embitterment, namely disappointment, lack of acknowledge, pessimism, and misanthropy. In general, our findings showed a common understanding of embitterment as a unique but multidimensional emotional reaction to distressful life-events.


2020 ◽  
Vol 7 (2) ◽  
pp. 247-255
Author(s):  
Maria Magdalena Setyaningsih ◽  
Emy Sutiyarsih

Kehamilan remaja adalah kehamilan yang terjadi pada remaja berusia kurang dari 20 tahunan. Kehamilan remaja memberikan banyak kerugian bagi kesehatan, mental dan psikologis, kesejahteraan ekonomi dan peluang karier, kemiskinan dan prospek kehidupan masa depan remaja. Tujuan penelitian mengidentifikasi faktor determinan yang melatarbelakangi terjadinya kehamilan remaja. Jenis penelitian adalah penelitian analitik kategorik jenis survei kuantitatif dengan desain case control. Populasi semua perempuan yang bertempat tinggal di wilayah dusun Wonosari, Sukosari, dan Krajan Pandansari dan pernah/sedang hamil pertama kali pada usia kurang dari 20 tahun. Teknik pengambilan sampel cluster random sampling besar sampel 73. Berdasarkan hasil model akhir analisis multivariat, diketahui bahwa variabel pendidikan, riwayat kehamilan remaja pada keluarga dan usia menikah merupakan variabel yang berhubungan dengan kejadian kehamilan remaja setelah dikontrol oleh variabel akses informasi, responden berpendidikan rendah memiliki peluang 20,8 kali lebih tinggi, responden yang memiliki riwayat kehamilan remaja pada keluarga memiliki peluang 14,9 kali lebih tinggi, responden yang menikah pada usia <20 tahun memiliki peluang 12,1 kali lebih tinggi, responden dengan pemahaman yang kurang baik terkait penggunaan kondom memiliki peluang 5,9 kali lebih tinggi untuk terjadi kehamilan remaja. Oleh karena itu perlu dibangun karakter buiding, sosial karakter suport untuk para ibu remaja dan keluarga sehingga terbangun interaksi yang baik dalam keluarga yang dilandasi dengan pendidikan dan pemahaman yang baik tentang Pendidikan seksualitas. Teen pregnancy is a pregnancy that occurs in adolescents aged less than 20 years old. Teen pregnancy provides many disadvantages for health, mental, psychological, economic well-being, career opportunities, poverty, and the future life. The aim of the study was to identify the determinants underlying teen pregnancy incidence. This study was a quantitative study with categorical analytic method. The study design used a case control with two comparison groups. The groups were control group and case group. The population in this study was all women who lived in the Wonosari, Sukosari, and Krajan Pandansari district and had or were pregnant for the first time at the age of less than 20 years old. Seventy three respondents were recruited using cluster sampling technique. The case group consists of women who were or had pregnant for the first time at the age of less than 20 years old and their children are currently aged ≤ 1 years old. The control group consists of women who were pregnant for the first time at the age of > 20 years old. The data was collected using a questionnaire. The findings showed that education, history of teen pregnancy in family and the age of marriage were related to the incidence of teen pregnancy after being controlled by information access. Low-educated respondents had 20.8 times higher chance of experiencing teen pregnancy; respondents with a history of teen pregnancy in the family had 4.9 times higher chance of experiencing teen pregnancy; respondents who were married at the age of < 20 years old had 12.1 times higher chance of experiencing teen pregnancy; respondents with poor understanding of condom use had 5.9 times higher chance of teenage pregnancy. In conclusion, the findings suggest to build good interactions in the family based on education and a good understanding of sex education.


Author(s):  
Elli Anagnostou ◽  
Alexia Kafkoutsou ◽  
Despina Mavrogianni ◽  
Ekaterini Domali ◽  
Evangelia Dimitroulia ◽  
...  

Background: Molecular biology tools, such as the detection of single nucleotide polymorphisms (SNPs), have been considered to assist to the management of the ovarian stimulation protocols. Purpose: The aim of this study was to evaluate the impact of two polymorphisms, the Asn680Ser polymorphism of the FSHR gene, and the FSH β subunit (FSHβ) gene polymorphism -211 G>T, in a Greek population of women undergoing IVF/ICSI program in our center. In addition, a control group of fertile women was studied, to verify whether there are differences in the genotype distribution between fertile and infertile population for both polymorphisms, as the FSHβ gene polymorphism -211 G>T is studied for the first time in the Greek population. Results : The FSH β-211 G>T polymorphism, studied for the first time in the Greek infertile population, appears to be quite rare. When studying the two polymorphisms separately, statistically significant differences were obtained that concerned the LH levels. Discussion: According to the combination analysis of the two polymorphisms by the number of alleles, women with 2-3 polymorphic alleles needed more days of stimulation, but there were no differences in pregnancy rates. Conclusion: This molecular genetic study helps to elucidate whether the polygenic combination of the Asn680Ser and FSH β subunit -211 G>T gene polymorphisms is of additive value in the prediction of ovarian response to exogenous gonadotropins.


2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Leela Goel ◽  
Huaiyu Wu ◽  
Bohua Zhang ◽  
Jinwook Kim ◽  
Paul A. Dayton ◽  
...  

AbstractOne major challenge in current microbubble (MB) and tissue plasminogen activator (tPA)-mediated sonothrombolysis techniques is effectively treating retracted blood clots, owing to the high density and low porosity of retracted clots. Nanodroplets (NDs) have the potential to enhance retracted clot lysis owing to their small size and ability to penetrate into retracted clots to enhance drug delivery. For the first time, we demonstrate that a sub-megahertz, forward-viewing intravascular (FVI) transducer can be used for ND-mediated sonothrombolysis, in vitro. In this study, we determined the minimum peak negative pressure to induce cavitation with low-boiling point phase change nanodroplets and clot lysis. We then compared nanodroplet mediated sonothrombolysis to MB and tPA mediate techniques. The clot lysis as a percent mass decrease in retracted clots was 9 ± 8%, 9 ± 5%, 16 ± 5%, 14 ± 9%, 17 ± 9%, 30 ± 8%, and 40 ± 9% for the control group, tPA alone, tPA + US, MB + US, MB + tPA + US, ND + US, and ND + tPA + US groups, respectively. In retracted blood clots, combined ND- and tPA-mediated sonothrombolysis was able to significantly enhance retracted clot lysis compared with traditional MB and tPA-mediated sonothrombolysis techniques. Combined nanodroplet with tPA-mediated sonothrombolysis may provide a feasible strategy for safely treating retracted clots.


2021 ◽  
Vol 10 (14) ◽  
pp. 3058
Author(s):  
Aleksandra Mielczarek-Palacz ◽  
Celina Kruszniewska-Rajs ◽  
Marta Smycz-Kubańska ◽  
Jarosław Strzelczyk ◽  
Wojciech Szanecki ◽  
...  

The aim of the analysis was for the first time to assess the expression of genes encoding IL-21 and IL-22 at the mRNA level in ovarian tumor specimens and the concentration of these parameters in serum and peritoneal fluid in patients with ovarian serous cancer. The levels of IL-21 and IL-22 transcripts were evaluated with the use of the real-time RT-qPCR. Enzyme-linked immunosorbent assay (ELISA) was used to determine the concentration of proteins. Quantitative analysis of IL-21 gene mRNA in the tumor tissue showed the highest activity in the G1 degree of histopathological differentiation and was higher in G1 compared to the control group. The concentration of IL-21 and IL-22 in the serum and in the peritoneal fluid of women with ovarian cancer varied depending on the degree of histopathological differentiation of the cancer and showed statistical variability compared to controls. The conducted studies have shown that the local and systemic changes in the immune system involving IL-21 and IL-22 indicate the participation of these parameters in the pathogenesis of ovarian cancer, and modulation in the IL-21/IL-22 system may prove useful in the development of new diagnostic and therapeutic strategies used in patients, which require further research.


Antibiotics ◽  
2021 ◽  
Vol 10 (6) ◽  
pp. 741
Author(s):  
Zheng Wang ◽  
Ge Yang ◽  
Biao Ren ◽  
Yuan Gao ◽  
Xian Peng ◽  
...  

The infection of Enterococcus faecalis and its interacting microorganisms in the root canal could cause persistent apical periodontitis (AP). Antibacterial root canal sealer has favorable prospects to inhibit biofilms. The purpose of this study was to investigated the antibacterial effect of root canal sealer containing dimethylaminododecyl methacrylate (DMADDM) on persistent AP in beagle dogs for the first time. Persistent AP was established by a two-step infection with Enterococcus faecalis and multi-bacteria (Enterococcus faecalis, Lactobacillus acidophilus, Actinomycesnaeslundii, Streptococcus gordonii). Root canal sealer containing DMADDM (0%, 1.25%, 2.5%) was used to complete root canal filling. The volume of lesions and inflammatory grade in the apical area were evaluated by cone beam computer tomography (CBCT) and hematoxylin-eosin staining. Both Enterococcus-faecalis- and multi-bacteria-induced persistent AP caused severe apical destruction, and there were no significant differences in pathogenicity between them. DMADDM-modified sealer significantly reduced the volume of periapical lesion and inflammatory grade compared with the control group, among them, the therapeutic effect of the 2.5% group was better than the 1.25% group. In addition, E.faecalis-induced reinfection was more sensitive to the 2.5% group than multi-bacteria reinfection. This study shows that root canal sealer containing DMADDM had a remarkable therapeutic effect on persistent AP, especially on E. faecalis-induced reinfection.


Rheumatology ◽  
2020 ◽  
Author(s):  
Nikolaos Koletsos ◽  
Eugenia Gkaliagkousi ◽  
Antonios Lazaridis ◽  
Areti Triantafyllou ◽  
Panagiota Anyfanti ◽  
...  

Abstract Objectives Patients with SLE have increased cardiovascular mortality. Alterations in both macro- and micro-circulation have been associated with cardiovascular disease. We sought to assess skin microvascular function by using laser speckle contrast analysis (LASCA) in patients with SLE, with and without cardiovascular disease and risk factors. Methods Continuous blood flow was recorded using a LASCA device during baseline, a 5-min arterial occlusion and a 5-min reperfusion period. Results Thirty-five patients with SLE (85.7% women) with a median disease duration 12.0 (6.5–17.5) years and a mean age of 46.3 (8.6) years and 31 controls matched for age, sex and BMI were enrolled. During reperfusion, SLE patients exhibited a smaller peak magnitude compared with controls (161.0 (47.1) vs 197.2 (41.4)%, respectively, P =0.002). Results remained unchanged among 24 SLE patients without cardiovascular disease compared with the control group (169.2 (48.1) vs 195.6 (34.0)%, respectively, P =0.002). Conclusion Our study shows, for the first time, that patients with SLE, even without overt cardiovascular disease or risk factors, exhibit a blunted microvascular reactivity during reperfusion compared with controls. These results show that skin microvascular dysfunction is present in SLE independently of the CV burden that these patients bear and may represent an early sign of vascular damage.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Narine M. Tonoyan ◽  
Vitaliy V. Chagovets ◽  
Natalia L. Starodubtseva ◽  
Alisa O. Tokareva ◽  
Konstantin Chingin ◽  
...  

AbstractUterine fibroids (UF) is the most common (about 70% cases) type of gynecological disease, with the recurrence rate varying from 11 to 40%. Because UF has no distinct symptomatology and is often asymptomatic, the specific and sensitive diagnosis of UF as well as the assessment for the probability of UF recurrence pose considerable challenge. The aim of this study was to characterize alterations in the lipid profile of tissues associated with the first-time diagnosed UF and recurrent uterine fibroids (RUF) and to explore the potential of mass spectrometry (MS) lipidomics analysis of blood plasma samples for the sensitive and specific determination of UF and RUF with low invasiveness of analysis. MS analysis of lipid levels in the myometrium tissues, fibroids tissues and blood plasma samples was carried out on 66 patients, including 35 patients with first-time diagnosed UF and 31 patients with RUF. The control group consisted of 15 patients who underwent surgical treatment for the intrauterine septum. Fibroids and myometrium tissue samples were analyzed using direct MS approach. Blood plasma samples were analyzed using high performance liquid chromatography hyphened with mass spectrometry (HPLC/MS). MS data were processed by discriminant analysis with projection into latent structures (OPLS-DA). Significant differences were found between the first-time UF, RUF and control group in the levels of lipids involved in the metabolism of glycerophospholipids, sphingolipids, lipids with an ether bond, triglycerides and fatty acids. Significant differences between the control group and the groups with UF and RUF were found in the blood plasma levels of cholesterol esters, triacylglycerols, (lyso) phosphatidylcholines and sphingomyelins. Significant differences between the UF and RUF groups were found in the blood plasma levels of cholesterol esters, phosphotidylcholines, sphingomyelins and triacylglycerols. Diagnostic models based on the selected differential lipids using logistic regression showed sensitivity and specificity of 88% and 86% for the diagnosis of first-time UF and 95% and 79% for RUF, accordingly. This study confirms the involvement of lipids in the pathogenesis of uterine fibroids. A diagnostically significant panel of differential lipid species has been identified for the diagnosis of UF and RUF by low-invasive blood plasma analysis. The developed diagnostic models demonstrated high potential for clinical use and further research in this direction.


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