scholarly journals Polymorphic variant rs1739843 of heat shock protein beta-7 (HSPB7) gene and its relationship with on clinical profile and outcomes in patients with hypertrophic cardiomyopathy (results of a 10-year follow-up)

2019 ◽  
pp. 7-15 ◽  
Author(s):  
A. A. Streltsova ◽  
A. Y. Gudkova ◽  
A. A. Poliakova ◽  
S. A. Pyko ◽  
A. A. Kostareva
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Allele Frequency ◽  
Methodological Approach ◽  
Clinical Profile ◽  
Polymorphic Variant ◽  
Control Group ◽  
Healthy Donors ◽  
Allele Specific ◽  
And Control ◽  
The Impact

Aim. To determine the impact of polymorphic variant rs1739843 of the HSPB7 gene on clinical profile and outcomes in patients with hypertrophic cardiomyopathy (HCM).Material and methods. The study population consisted of 108 patients with HCM ≥45 years old. The control group included 192 healthy donors. The design of the study included an assessment of the clinical course, determining the outcome of HCM using a new methodological approach proposed by Rowin EJ, et al. (2017). Polymorphic variant 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 frequency of TT genotype of rs1739843 of the HSPB7 gene in patients with HCM — 20,4%, compared with control group — 4,2% (ТТ: ТС+СС, 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 group (CC: ТС+TT, OR=0,11, 95% CI=0,07-0,19, p<0,001). The allele frequency (С:Т) also differs 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 frequency of TT genotype and T allele of rs1739843 of the HSPB7 gene in HCM patients with oligosymptomatic HCM course — 16,7%, compared with control group — 4,2% (ТТ: ТС+СС, OR=4,60, 95% CI=1,63-12,99, p<0,001). HCM patients ≥45 years old showed a significant increase in T allele frequency in cases of presence of 2 (FC III-IV CHF (chronic heart failure)+AF (atrial fibrillation), 18,8% vs 6,6%) and 3 adverse pathways (FC III-IV CHF+AF+SCD (sudden cardiac death), 4,2% vs 1,6%).Conclusion. HCM progression along 2 and more adverse pathways in patients ≥45 years old has been characterized with adverse outcome. 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 oligosymptomatic HCM course, compared with control group.Allele T of rs1739843 of the HSPB7 gene is associated with 2 and more adverse pathways of HCM progression.

P894The association of the polymorphic variant rs1739843 of the hspb7 gene with clinical profile and outcomes in patients with hypertrophic cardiomyopathy (10 years follow-up)

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
A Streltsova ◽  
A Gudkova ◽  
A Poliakova ◽  
S Pyko ◽  
A Kostareva
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Allele Frequency ◽  
Functional Class ◽  
Clinical Profile ◽  
Genotype Frequency ◽  
Polymorphic Variant ◽  
Control Group ◽  
Healthy Donors ◽  
The Impact ◽  
Benign Course

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.

scholarly journals The influence of polymorphic variants rs2305619 и rs3816527 of the PTX3 gene on clinical profile and outcomes in patients with hypertrophic cardiomyopathy: results of a 11-years follow-up

2021 ◽  
Vol 28 (2) ◽  
pp. 23-32
Author(s):  
A. A. Streltsova ◽  
A. Ya. Gudkova ◽  
S. A. Pyko ◽  
E. N. Semernin ◽  
A. A. Kostareva
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Diabetes Type 2 ◽  
Allele Frequencies ◽  
Clinical Profile ◽  
Control Group ◽  
Healthy Donors ◽  
Polymorphic Variants ◽  
And Control

The objective of this study was to determine the association of polymorphic variants rs2305619 and rs3816527 of the PTX3 gene with clinical profile and outcomes in hypertrophic cardiomyopathy (HCM) patients.Methods and materials. The study population consisted of 153 patients ≥18 years old with a confirmed diagnosis of HCM. The control group included 200 healthy donors. Duration of follow-up was 11 years (2008–2019 yrs.). The study design included a new model for determining variants of the clinical profile and outcomes of HCM. Polymorphic variants rs2305619 and rs3816527 of the PTX3 gene were genotyped by polymerase chain reaction.Results. The mortality rate in patients ≥18 years old with 1, 2 and 3 adverse pathways of HCM progression was significantly higher, compared with those without adverse pathways (р<0.001). A combination of chronic heart failure (CHF) with midrange and reduced LVEF (<49 %) with 1, 2 and 3 adverse pathways in HCM patients occurred more frequently, compared with those who had CHF with preserved LVEF (≥50 %) (odds ratio (OR) = 0.168, 95 % confidence interval (CI) =0.068–0.412, р<0.001). The genetic testing showed no significant differences in genotype and allele frequencies of polymorphic variants rs2305619 and rs3816527 of the PTX3 gene in patients with HCM and control groups. It was found a tendency for increase in GG genotype frequency (p<0.068) and significant increase in G allele frequency of rs2305619 of the PTX3 gene in HCM patients ≥18 years old and CHF with mid-range and reduced LVEF (<49 %) (A:G, OR=0.521, 95 % CI=0.301–0.902, p<0.019). HCM patients (age – 63 [58; 75] years) and type 2 diabetes mellitus demonstrated high prevalence in AG and GG genotypes (p<0.008) and G allele frequencies of rs2305619 of the PTX3 gene (A:G, OR =1.952, 95 % CI=1.076–3.542, p<0.026).Conclusions. HCM progression along 1 and more adverse pathways in patients ≥18 years old has been characterized with adverse outcome. G allele of rs2305619 of the PTX3 gene is associated with CHF with mid-range and reduced LVEF (<49 %) in HCM patients ≥18 years old. The associations of G allele and AG and GG genotypes of rs2305619 of the PTX3 gene with diabetes type 2 are observed in elderly HCM patients.

scholarly journals Investigation of TAGAP gene polymorphism (rs1738074) in Turkish pediatric celiac patients

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Melek Pehlivan ◽  
Tülay K. Ayna ◽  
Maşallah Baran ◽  
Mustafa Soyöz ◽  
Aslı Ö. Koçyiğit ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Disease Risk ◽  
Polymerase Chain Reaction Method ◽  
Control Group ◽  
Healthy Children ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Allele Specific ◽  
And Control

Abstract Objectives There are several hypotheses on the effects of the rs1738074 T/C single nucleotide polymorphism in the TAGAP gene; however, there has been no study on Turkish pediatric patients. We aimed to investigate the association of celiac disease (CD) and type 1 diabetes mellitus (T1DM) comorbidity with the polymorphism in the TAGAP gene of Turkish pediatric patients. Methods Totally, 127 pediatric CD patients and 100 healthy children were included. We determined the polymorphism by the allele-specific polymerase chain reaction method. We used IBM SPSS Statistics version 25.0 and Arlequin 3.5.2 for the statistical analyses. The authors have no conflict of interest. Results It was determined that 72% (n=154) of only CD patients had C allele, whereas 28% (n=60) had T allele. Of the patients with celiac and T1DM, 42.5% (n=17) and 57.5% (n=23) had T and C alleles, respectively. Of the individuals in control group, 67% (n=134) had C allele, whereas 33% (n=66) had T allele. Conclusions There was no significant difference in the genotype and allele frequencies between the patient and control groups (p>0.05). There was no significant association between the disease risk and the polymorphism in our study group.

scholarly journals Positive Airway Pressure Therapy Adherence with Mask Resupply: A Propensity-Matched Analysis

2021 ◽  
Vol 10 (4) ◽  
pp. 720
Author(s):  
Adam Benjafield ◽  
Liesl Oldstone ◽  
Leslee Willes ◽  
Colleen Kelly ◽  
Carlos Nunez ◽  
...  
Keyword(s):  
Airway Pressure ◽  
Positive Airway Pressure ◽  
Group Versus ◽  
Control Group ◽  
Billing Data ◽  
Pressure Therapy ◽  
Therapy Termination ◽  
Few Data ◽  
And Control ◽  
The Impact

There are currently few data on the impact of mask resupply on longer-term adherence to positive airway pressure (PAP) therapy. This retrospective analysis investigated the effects of mask/mask cushion resupply on the adherence to PAP versus no resupply. Deidentified patient billing data for PAP supply items were merged with telemonitoring data from Cloud-connected AirSense 10/AirCurve 10 devices via AirViewTM (ResMed). Eligible patients started PAP between 1 July 2014 and 17 June 2016, had ≥360 days of PAP device data, and achieved initial U.S. Medicare adherence criteria. Patients who received a resupply of mask systems/cushions (resupply group) were propensity-score-matched with those not receiving any mask/cushion resupply (control group). A total of 100,370 patients were included. From days 91 to 360, the mean device usage was 5.6 and 4.5 h/night in the resupply and control groups, respectively (p < 0.0001). The proportion of patients with a mean device usage ≥4 h/night was significantly higher in the resupply group versus the control group (77% vs. 59%; p < 0.0001). The therapy termination rate was significantly lower in the resupply group versus the control group (14.7% vs. 31.9%; p < 0.0001); there was a trend toward lower therapy termination rates as the number of resupplies increased. The replacement of mask interface components was associated with better longer-term adherence to PAP therapy versus no resupply.

Altered plasma and erythrocyte phospholipid fatty acid profile in elite female water polo and football players

2012 ◽  
Vol 37 (1) ◽  
pp. 40-47 ◽  
Author(s):  
Aleksandra Arsić ◽  
Vesna Vučić ◽  
Jasna Tepšić ◽  
Sanja Mazić ◽  
Marina Djelić ◽  
...  
Keyword(s):  
Oleic Acid ◽  
Stearic Acid ◽  
Palmitoleic Acid ◽  
Phospholipid Fatty Acid ◽  
Study Groups ◽  
Control Group ◽  
Football Players ◽  
Water Polo ◽  
And Control ◽  
The Impact

The impact of chronic, intense exercise, such as in elite athletes, on phospholipids fatty acids (FA) composition has not been studied in women so far. This study aimed to investigate FA profiles in plasma and erythrocytes phospholipids in elite female water polo (N = 15) and football (N = 19) players in comparison with sedentary women. In spite of similar dietary patterns, as assessed by a food frequency questionnaire, plasma FA profile in the football players showed significantly higher proportions of stearic acid, oleic acid, and monounsaturated FA (MUFA), and significantly lower proportions of total and n-6 polyunsaturated FA (PUFA) than in the water polo and control group. The water polo players had higher percentages of palmitoleic acid and arachidonic acid than the control subjects. Erythrocyte FA profile differed among groups. We found significantly higher proportion of oleic acid and MUFA in the football group than in the controls, and decreased stearic acid and elevated palmitic and palmitoleic acid in the water polo players than in the other 2 groups. Both groups of athletes had significantly lower percentages of n-6 dihomo-γ-linolenic acid, n-6 PUFA, and total PUFA compared with the controls. The estimated activities of elongase and desaturases in erythrocytes were also altered in the athletes. Our results indicate that long-term, intense physical training significantly affects FA status of plasma and erythrocyte phospholipids in women. The observed differences between the water polo and the football players suggest that the type of regular training may contribute to the altered metabolism of FA, although possible genetic differences among the 3 study groups cannot be ruled out.

Abstract P186: A Randomized Preschool Trial To Promote Cardiovascular Health In Colombia: 18 Month Follow Up.

Circulation ◽  
2012 ◽  
Vol 125 (suppl_10) ◽  
Author(s):  
Jaime Céspedes ◽  
German Briceño ◽  
Michael Farkouh ◽  
Rajesh Vedanthan ◽  
Martha Leal ◽  
...  
Keyword(s):  
Educational Intervention ◽  
Cardiovascular Health ◽  
Controlled Trial ◽  
Intervention Group ◽  
Educational Programs ◽  
Control Group ◽  
Active Lifestyle ◽  
And Control ◽  
The Impact

Introduction: Educational programs for children can increase uptake of healthy lifestyle behaviors. However, the impact of educational programs in preschool-aged children in low- and middle-income countries is not known. We conducted a five month educational intervention in preschool facilities (PF) in Bogota, Colombia, to assess changes in preschooler’s knowledge, attitudes and habits (KAH) towards healthy eating and living an active lifestyle. Methods: We conducted a cluster, randomized, controlled trial, and randomly assigned 14 PF in Bogota to a five-month educational intervention (7 PF) or to usual curriculum (7 PF). The intervention included classroom activities and use of printed material and videos. A total of 1216 pre-school children, 928 parents, and 120 teachers participated. A structured survey was used to evaluate changes in KAH with a weighted total score (WTS). The primary outcome was change in children's WTS, and the secondary outcomes were change in parents’ and teachers' WTS. The control PF were provided the intervention after the initial evaluation. To assess sustainability, we evaluated both intervention and control groups at 18 months. Results: At 6 months, children in the intervention group showed 10.9% increase in WTS vs. 5.3% in controls, p<0.001, after adjustment for cluster, sex, age and teachers' educational level. Among parents, the equivalent results were 8.9% and 3.1%, respectively, p< 0.001, and among teachers 9.4% and 2.5%, p=0.06. At the 18-month extended follow-up, both the intervention and control children showed a significant further increase in WTS, p<0.001 (Figure 1). In parents and teachers in the intervened group, there was no significant increase in WTS, p=0.7417, and p=0.1197. In the control group, there was an increase in WTS in teachers but not in parents, p=0.001, and p=0.4239. Conclusion: A preschool based intervention, aimed at changing KAH related to healthy diet and active lifestyle, is feasible, efficacious and sustainable up to 18 months in very young children in Colombia.

scholarly journals The Effect of Music Therapy on Problem-Solving Skills

2016 ◽  
Vol 6 (2) ◽  
pp. 169
Author(s):  
Zeinab Sirous Jahedi ◽  
Nasser Amini Khoi
Keyword(s):  
Problem Solving ◽  
Music Therapy ◽  
Sampling Method ◽  
Average Score ◽  
Control Group ◽  
Problem Solving Skills ◽  
Statistical Population ◽  
Quasi Experimental ◽  
And Control ◽  
The Impact

<p>The aim of the present research was study of the impact of music therapy on problem-solving skills of 4 to 6 years old children in Tehran. This research was a quasi-experimental study with pretest-posttest control group. The statistical population was all 4 to 6 years old children in region 2 of Tehran. Using the random sampling method, the study sample was chosen in two experiment (15 individuals) and control (15 individuals) groups.   The experiment group received 12 sessions of music therapy and the control group was waiting for treatment meanwhile. To evaluate the problem-solving skill in children, the three subscales of Wechsler’s Preschool and Primary Scale of Intelligence (WPPSI) were used, including: mazes, cubes and arithmetic.  Analysis of data obtained from the questionnaires was conducted in two parts of descriptive and inferential. The data analysis indicated the significant increase of problem-solving average score of the experiment group compared to the control group.</p>

scholarly journals What is the impact of methotrexate on liver in patients with juvenile idiopathic arthritis? Results of liver SWE performed in a single centre

2021 ◽  
Author(s):  
Vildan Güngörer ◽  
Mehmet Öztürk ◽  
Mustafa Yasir Özlü ◽  
Şükrü Arslan
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Shear Wave Elastography ◽  
Term Therapy ◽  
Control Group ◽  
Significant Difference ◽  
Group 2 ◽  
Long Term Therapy ◽  
And Control ◽  
The Impact

ABSTRACT Objectives Long-term therapy with low-dose methotrexate (MTX) is widely used in treatment of rheumatic diseases, in children. The purpose of this study was to evaluate liver elasticity in patients with juvenile idiopathic arthritis (JIA) who received MTX and compare the results with control group. Methods Liver elasticity was evaluated with shear wave elastography (SWE) technique in 25 patients aged 3–17 years who were followed up with JIA and received MTX and compared with 25 healthy controls of the same age and weight. Factors that had an effect on liver elasticity were examined. Results The mean SWE value of patients was 2.64 ± 2.13 m/s and 24.10 ± 18.50 kPa, whereas 1.83 ± 0.16 m/s and 10.09 ± 1.83 kPa in control group. There was a significant difference in liver elasticity in the patient and control groups. When the patients were evaluated as Group 1 (&lt; 1000 mg) and Group 2 (≥ 1000 mg) according to the cumulative MTX dose, no significant difference was obtained. There was positive correlation between liver elasticity and weekly MTX dose and age. Conclusions Our study revealed that liver elasticity significantly decreased in patients who received MTX when compared with the control group. The elastography technique will be understood better over time and used safely in many areas.

scholarly journals The Impact of Smartboard on Preparatory Year EFL Learners’ Motivation at a Saudi University

2017 ◽  
Vol 8 (3) ◽  
pp. 172
Author(s):  
Waqar Ahmad ◽  
Zuraina Ali ◽  
Muhammad Aslam Sipra ◽  
Imtiaz Hassan Taj
Keyword(s):  
Teaching And Learning ◽  
Control Group ◽  
Efl Learners ◽  
Saudi Students ◽  
Significant Difference ◽  
Literature Reviews ◽  
Preparatory Year ◽  
And Control ◽  
The Impact ◽  
Experimental Group

Smartboards, which are now widely used in the teaching and learning process in Saudi Arabia, have turned the traditional environments of the classrooms, especially the EFL classrooms to be more interesting and encouraging. Literature reviews suggest that Saudi students usually lack motivation for studying English as a foreign language. This study tends to investigate the impact of Smartboards on preparatory year EFL learners motivation at a Saudi university. Two intact groups were selected, in which one was termed as experimental and the second as control group. The experimental group was taught using the Smartboard while the control group was taught with the traditional whiteboard, pen and book method. The treatment was given for seven weeks. A questionnaire was administered to both the groups at the beginning and the end of the study. The data was analysed using the SPSS and the results showed that there was significant difference between the experimental and control groups in terms of motivation.  

scholarly journals The impact of using the strategy of self-questioning in the achievement of students in the fifth grade in mathematics: أثر استخدام استراتيجية التساؤل الذاتي في تحصيل طلاب الصف الخامس الابتدائي في مادة الرياضيات

2017 ◽  
Vol 1 (1) ◽  
Author(s):  
Abdul Latif Al-Zakri
Keyword(s):  
Achievement Test ◽  
Experimental Methodology ◽  
Fifth Grade ◽  
Control Group ◽  
Significance Level ◽  
Fifth Grade Students ◽  
Significant Difference ◽  
And Control ◽  
The Impact ◽  
Experimental Group

This study aimed to examine the impact of the use of self-questioning in the understanding of fifth grade students in mathematics material. The researcher used the experimental methodology for independent groups to investigate the impact of the independent variable, which is a self-questioning strategy on the dependent variable, which is understanding. The study sample consisted of 42 students from the fifth grade students from Khubayb bin Udai School in Riyadh; equally divided into two groups of 21 students in each group (experimental and control), and after making sure from groups' equivalence by applying the tools of the study, having been taught the experimental group by using self-questioning strategy, while the control group has been studied the unit by using the traditional method. After the completion of the study of prescribed content study, study tools (achievement test) were applied then. The results indicated to the presence of a statistically significant difference (at the significance level <0. 05) between the mean scores of the two groups' students (experimental and control) in achievement test posttest for the experimental group. Since the results of the study were positive in increasing the achievement, the researcher recommended the need to use self-questioning to raise the level of achievement of learners in mathematics material

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