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

Author(s):  
A. A. Streltsova ◽  
A. Ya. Gudkova ◽  
S. A. Pyko ◽  
E. N. Semernin ◽  
A. A. Kostareva

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.

Author(s):  
A. A. Streltsova ◽  
A. Y. Gudkova ◽  
A. A. Poliakova ◽  
S. A. Pyko ◽  
A. A. Kostareva

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.


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.


2012 ◽  
Vol 37 (4) ◽  
pp. 610-620 ◽  
Author(s):  
Marie-Claude Battista ◽  
Mélissa Labonté ◽  
Julie Ménard ◽  
Farrah Jean-Denis ◽  
Ghislaine Houde ◽  
...  

This 24 month study evaluated the effect of dietitian coaching combined with minimal endocrinologist follow up on the glycemic control and cardiovascular risks of diabetic participants, compared with conventional endocrinologist follow up. Participants with type 1 or type 2 diabetes were assigned to either the control group with conventional endocrinologist follow up (C; n = 50) or the dietitian-coached group (DC; n = 51) with on-site diabetes self-management education every 3 months combined with annual endocrinologist followup. Over the 24 month intervention, weight (–0.7 vs. +2.1 kg; p = 0.04), BMI (+0.3 vs. +0.7 kg/m2; p = 0.009), and waist circumference (–1.3 vs. +2.4 cm; p = 0.01) significantly differed between the DC and control groups. HbA1C dropped significantly in participants of the DC versus the control group (–0.6% vs.–0.3%; p = 0.04). This was accompanied by improved overall energy intake (–548 vs. –74 kcal/day; p = 0.04). However, no link associated glycemic control to nutrient intake or intensiveness of pharmacotherapy. Coaching by a dietitian improves glycemic control and reduces certain cardiovascular risk factors in diabetic subjects, demonstrating that a joint dietitian–endocrinologist model of care provides a convenient strategy for cardiovascular risk management in the diabetic population.


2021 ◽  
Author(s):  
Hee-Cheol Kim ◽  
Ji-Hun Kim ◽  
Ho-Jun Lee ◽  
Yang-Tae Kim ◽  
Byeong-Churl Jang

Abstract Background Some studies suggest that cancer and type 2 diabetes (T2D), as well as neurodegenerative disease (ND), are related to protein misfolding and possibly to each other. This study aimed to investigate the association between NDs and cancer to evaluate the impact of T2D on the association between NDs and cancer. Methods A population-based 10-year follow-up study was conducted using the Korean National Health Insurance Service Database between 2002 and 2015. The study population included an ND group (n = 9,292) and control group (n = 46,742), aged ≥ 60 years. A multivariable Cox proportional hazards regression model was used to evaluate the hazard ratio (HR) and 95% confidence interval (CI) for cancer risk. Results Various NDs and/or T2D were newly diagnosed in ND and control groups during the 10-year follow-up periods. Newly developed ND cases before cancer onset were 2,412 (26.0%) in the ND group and 15,435 (33.0%) in the control group (χ2 = 178.19, p < 0.01). Newly developed T2D cases before cancer onset were 4,691 (50.5%) and 25,695 (55.0%) in the ND and control groups, respectively (χ2 = 62.89, p < 0.01). As of December 31, 2015 (the end of the observation period), the number of cancer patients in the ND group was 2,040 (22.0%) and that in the control group was 8,628 (18.5%) (χ2 = 61.45, p < 0.01). The ND group was associated with an increased risk of cancer (HR, 1.25; 95% CI, 1.19–1.31). In both groups, newly diagnosed ND and T2D patients showed an additive effect on cancer incidence during the follow-up period. The additional effect on cancer incidence was higher in T2D than in ND. Conclusion This study showed a positive association between NDs and cancer, and an additive effect of T2D on this association. Further replication studies are needed to address the association among NDs, cancer, and T2D.


2021 ◽  
Author(s):  
Hee-Cheol Kim ◽  
Ji-Hun Kim ◽  
Ho-Jun Lee ◽  
Yang-Tae Kim ◽  
Byeong-Churl Jang

Abstract BackgroundSome studies suggest that cancer and type 2 diabetes (T2D), as well as neurodegenerative diseases (NDs), are related to protein misfolding and possibly to each other. This study aimed to investigate the association between NDs and cancer, and to determine the impact of T2D on the association between NDs and cancer.MethodsA population-based 10-year follow-up study was conducted using the Korean National Health Insurance Service Database between 2002 and 2015. The study population included an ND group (n = 9,292) and control group (n = 46,742), aged ≥60 years. A multivariable Cox proportional hazards regression model was used to evaluate the hazard ratio (HR) and 95% confidence interval (CI) for cancer risk.ResultsVarious another NDs and/or T2D were newly diagnosed in ND and control groups during the 10-year follow-up periods. Newly developed another ND cases before cancer onset were 2,412 (26.0%) in the ND group and 15,435 (33.0%) in the control group (χ2 = 178.19, p < 0.01). Newly developed T2D cases before cancer onset were 4,691 (50.5%) and 25,695 (55.0%) in the ND and control groups, respectively (χ2 = 62.89, p < 0.01). As of December 31, 2015 (the end of the observation period), the number of cancer patients in the ND group was 2,040 (22.0%) and that in the control group was 8,628 (18.5%) (χ2 = 61.45, p < 0.01). The ND group was associated with an increased risk of cancer (HR, 1.25; 95% CI, 1.19–1.31). In both groups, newly diagnosed another NDs and T2D showed an additive effect on cancer incidence during the follow-up period. The additive effect on cancer incidence was higher in T2D than in ND.ConclusionThis study showed a positive association between NDs and cancer, and an additive effect of T2D on this association. Further replication studies are needed to address the association among NDs, cancer, and T2D.


2020 ◽  
Vol 8 (2) ◽  
pp. e001773
Author(s):  
Justyna Klusek ◽  
Ewelina Błońska-Sikora ◽  
Bartosz Witczak ◽  
Katarzyna Orlewska ◽  
Jolanta Klusek ◽  
...  

IntroductionType 2 diabetes (T2D) is a multifactorial disease affecting mostly adults older than 40 years. The aim of the study was to examine GST gene polymorphism influence on the risk of T2D, especially in young adults.Research design and methods200 diabetic patients and 221 healthy controls participated in this study. Three GST gene polymorphism have been analyzed: GSTP1 (single-nucleotide polymorphism Ile105Val), homozygous deletion of GSTT1 (null/null) and GSTM1 (null/null), using TaqMan real-time quantitative PCR.ResultsThe distribution of examined polymorphisms was similar in patient group and control group. Statistically significant differences were demonstrated for the combination of GSTP1 Val/Val and GSTT1 null/null genotypes between patients diagnosed before 40 years of age and healthy people (12.5% vs 0.9%, p=0.016). Moreover, all three examined gene polymorphism together (GSTP1 Val/Val, GSTM1nul/null and GSTT1 null/null genotype) was observed in 12.5% of patients diagnosed before 40 years of age and in 0.5% of healthy individuals (p=0.013).ConclusionIn conclusion, the results suggest that GST polymorphism may be one of the risk factors for developing T2D at a younger age than the T2D population average.


Circulation ◽  
2012 ◽  
Vol 125 (suppl_10) ◽  
Author(s):  
Lena M Bjorck ◽  
Christina Stahl-Heden ◽  
Masuma Novak ◽  
Wai Giang Kok ◽  
Annika Rosengren

Background and aim: The link between low socioeconomic status (SES) and CHD is well established but whether low SES is also an independent predictor for development of diabetes type 2 is not clear. The aim of this study was to investigate whether SES, measured as occupational class, predicted subsequent development of diabetes type 2 over an extended follow-up. Methods: A total of 6941 men 47-55 years old, without prior diabetes, from a population sample of 9998 men, were investigated during 1970-73. Of the men, 23.7% were unskilled workers, 27.2% were skilled workers, 19.7% occupied either a supervisory manual position or were lower officials, 17.9% were officials at an intermediate position, and 11.6% were professionals, executives or senior officials. Follow-up was achieved through the national Swedish patient registry. Results: A total of 900 men (13%) were registered at any time with a diagnosis of diabetes over a 35-year follow-up. Compared with men in the highest occupational class, men with intermediate non-manual occupations had a multiple-adjusted hazard ratio (HR) of 1.10, 95% confidence interval (CI) 0.84-1.44, lower officials and foremen had an HR of 1.37 (1.06-1.78), semiskilled and skilled workers 1.39 (1.08-1.78), and unskilled workers 1.66 (1.30-2.13) after adjustment for smoking at baseline, BMI, blood pressure, serum cholesterol, treatment for hypertension and leisure time physical activity. Conclusions: Low SES is an independent risk factor for long-term risk of diabetes in men, with a 66% independent higher risk in unskilled workers, compared to professionals/senior officials.


Circulation ◽  
2012 ◽  
Vol 125 (suppl_10) ◽  
Author(s):  
Jaime Céspedes ◽  
German Briceño ◽  
Michael Farkouh ◽  
Rajesh Vedanthan ◽  
Martha Leal ◽  
...  

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.


2019 ◽  
Vol 45 (1) ◽  
pp. 29-34
Author(s):  
Li-ching Chang ◽  
I-ming Tsai

The present study compared early dental implant failure rates between patients with and without orthodontic treatment before dental implantation. The data of adults who had undergone dental implantation between January 2007 and December 2016 were analyzed retrospectively. A total of 124 subjects with 255 implants were divided into a treatment group (46 subjects, 85 teeth) consisting of patients who had undergone implant surgery after orthodontic treatment and a control group of patients who had not undergone preimplant orthodontic treatment. Implants that failed before permanent crown fabrication were defined as failures. No significant differences in gender or age were found between the treatment group and controls. No significant differences were found in implant failure rates in either jaw between the treatment and control groups. However, the failure rate was still higher in the treatment group (14.81%) than in the control group (3.28%) for the maxilla. Results of this study demonstrate an increased implant failure rate only in the maxilla of patients who underwent orthodontic treatment before dental implantation, especially implant surgery combined with a sinus lift procedure. Further study with a larger sample size and longer follow-up period is necessary to confirm results of the present study and identify other confounding factors.


Jurnal NERS ◽  
2020 ◽  
Vol 14 (2) ◽  
pp. 155
Author(s):  
Eka Mishbahatul Mar'ah Has ◽  
Amira Aulia ◽  
Tiyas Kusumaningrum ◽  
Ferry Efendi

A well-balanced diet is one of the four pillars of diabetes self-management. Patient's culture strongly influences intake food. Diabetic dietary guidelines which fit with the patient's culture is expected to improve patient's self-efficacy and diet compliance. This study was aimed to analyze the effect of ethnic foods diet program in improving self-efficacy and diet compliance among Type-2 Diabetes Mellitus (T2DM) patients. This was quasy experiment research with pre and post-test control design. The population was 112 T2DM patients from Sasak Tribes, West Nusa Tenggara. Samples were 36 respondents, divided into intervention (18) and control (18) groups. The independent variable was the ethnic food diet (EFD) program, while the dependent variables were patient's self-efficacy and diet compliance. Data were collected using self-efficacy questionnaire and a 24-hour dietary recall form. Data were then analyzed using Wilcoxon Signed Rank Test and Mann Whitney U Test. The result showed differences in self-efficacy between pre and post-test in the treatment group (p=0,001), but there were no differences in the control group. There were differences in diet compliance in the treatment group (p=0,001), but there were no differences in the control group. There were differences between treatment and control groups on self-efficacy (p=0,000) and diet compliance (p=0,000). Ethnic foods diet program can improve self-efficacy and diet compliance among T2DM patients because more comfortable and easier to be applied. Nurses can apply ethnic foods diet program as an intervention to promote healthy diet for T2DM patients.


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