bluuebunny/crossref_metadata_2025_split huggingface dataset:
A STUDY OF SOME GENETIC FACTORS FOR FIBROMUSCULAR DYSPLASIA
Authors: Yaneva-Sirakova Teodora , Dodova Rumiana , Kaneva Radka , Tzveova Reni , Ivanova Raya , Vassilev Dobrin 
Published: June 2022

Objective:
Fibromuscular dysplasia (FMD) is relatively rare idiopathic nonatherosclerotic noninfectious disease of the layers of the elastic arteries. Up to the current knowledge, there are not genes/mutations, which can be unequivocally associated with the disease. Eastern Europeans are under-studied and under-represented in the studies in the field. We started to study this group from the database of the Molecular Medicine center Sofia, BG and tested it to rs9349379 in gene PHACTR1, which showed some association in other studies, but is also associated with coronary artery disease (CAD) and arterial hypertension (AH).

Design and method:
Eleven patients with angiographically proven FMD, 108 patients with AH, 89 patients with angiographically proven CAD and 112 healthy population controls were included. We used TaqManTM technology (Applied Biosystems) for the real time PCR sequencing of the rs9349379 in gene PHACTR1. SPSS 19, p = 0.05, CI 95% was used for the statistics.

Results:
The allelic and genotypic frequencies of rs9349379 in Bulgarians (Eastern European) do not differ from the European. The frequency of the A allele was higher (without reaching statistical significance) in FMD patients. This is in accordance with the results from literature. There was also a tendency (without reaching statistical significance) for association of G allele with CAD.

Conclusions:
We were not able to prove a significant association between rs9349379 in gene PHACTR1 and FMD. However, the group of FMD patients is very small. Maybe FMD is not the perfect “candidate’’ disease for genetic studies for the very few familial cases, multiple genes overlapping in common diseases, varieties in the clinical presentation. Nonetheless, this can be the basis for further research and attempts to study the disease should continue.
The study is conducted with Contract D-132/24.06.2020 from the proposal Grant 2020 of Medical University - Sofia
ENDOTHELIAL NITRIC OXIDE SYNTHASE GENE POLYMORPHISM (894G>T, 786T>C) CONTRIBUTE TO HYPERTENSION RISK AND LIPIDS PROFILE DISORDERS
Authors: Dzhuryak Valentyna , Sydorchuk Andrii , Sydorchuk Larysa , Sydorchuk Ruslan , Sydorchuk Iryna , Iftoda Oksana 
Published: June 2022

Objective:
Endothelial nitric oxide synthase (eNOS) gene meet the criteria for candidate genes of cardiovascular disease, including essential arterial hypertension (EAH). The aim of the study was to evaluate the association of eNOS gene polymorphism (894G>T, 786T>C) with EAH risk, lipids profile and some concomitant diseases.

Design and method:
100 EAH patients with target-organ damage, moderate, high/very high cardiovascular risk were involved in the case-control study. 79.0% females and 21.0% males, mean age 59.87 ± 8.02; disease duration 6–25 years. Control included 48 practically healthy persons of relevant age. eNOS gene polymorphisms (894G>T, 786T>C) was examined by Real-Time PCR. Lipids’ profile was studied by total cholesterol (TC), high-, low density cholesterol (HDL-C, LDL-C), triglycerides (TG) and atherogenic index (AI).

Results:
eNOS gene mutants’ T-allele of 894G>T and C-allele of 786T>C were observed in 34.2% and 32.2% patients, that was almost 2 times less, than G-allele carriers (p = 0.006) and T-allele patients (p = 0.004) respectively. eNOS gene T-allele (894G>T) and C-allele (786T>C) were associated with increased relative risk of EAH 1.8 times [OR = 2.43; 95%CI:1.20–4.95] and 2.15 times [OR = 3.48; 95%CI:1.58–7.68], also with higher risk of concomitant Diabetes Mellitus type 2, cerebrovascular disease and acute myocardial infarction in anamnesis 1.53–1.72 times (p < 0.05). eNOS gene haplotype analysis proved the contribution of -894G/786C and -894T/786C haplotypes to EAH risk increase 2.05 times [OR95%CI:1.18–4.04] and 3.18 times [OR95%CI:1.27–7.29], elevation of TG level and atherogenic index by 10.5–18.7% (p < 0.05) and 12.65–14.19% (p < 0.05) accordingly. The HDL-C level was significantly lower in -894G/786C and -894T/786C carriers by 18.16% (p < 0.01) and 22.07% (p < 0.001). -894G/786T genotypes combination played a protective role against EAH [OR = 0.55; 95%CI:0.39–0.76; P < 0.001].

Conclusions:
eNOS gene -894G/786C and -894T/786C increased the EAH risk and lipids profile metabolism disorders.
LINKAGE BETWEEN NOS3 (RS2070744) AND GNB3 (RS5443) GENES’ POLYMORPHISM, CAROTID ARTERIES STRUCTURAL CHANGES AND ENDOTHELIAL DYSFUNCTION IN ESSENTIAL HYPERTENSION
Authors: Sydorchuk Andrii , Voroniuk Ksenia , Sydorchuk Larysa , Semianiv Marianna , Sydorchuk Ruslan , Repchuk Yulia 
Published: June 2022

Objective:
This study aims to verify the risk of endothelial dysfunction (ED) and carotid intima media thickness (IMT) changes depending on GNB3 (rs5443) and NOS3 (rs2070744) genes’ polymorphism in essential arterial hypertensives (EAH).

Design and method:
One-hundred EAH patients (moderate-very high cardiovascular risks, aged 45–65 years) and 48 practically healthy (control) participated in the case-control study. Soluble Vascular Cell Adhesion Molecule (sVCAM-1), total NO metabolites, transcriptional activity of NOS3 gene, Endothelium-Dependent Flow-Mediated Dilation of the Brachial Artery (FMD BA) and carotid IMT were studied. GNB3 (rs5443) and NOS3 (rs2070744) genotyping performed by TaqMan probes (CFx96ÔReal-Time PCR).

Results:
C-allele of NOS3 gene elevates the risk of atherosclerotic plaques on the carotid arteries over 3.5 times [OR95%CI:1.24–11.20; p = 0.019 and OR95%CI:1.22–10.18; p = 0.018], ED – by total NO metabolites decrease (<25 mol/l) and sVCAM-1 value raise (>1050 ng/ml) – 12 and 4 times [OR95%CI:1.23–112.7; p = 0.023 and OR95%CI:1.24–11.20; p = 0.019], respectively. Moreover, C-allele of NOS3 gene heighten the low NOS3 gene expression probability 69 times [OR95%CI:17,72–520,0; p < 0,001].
The minor T-allele of GNB3 gene increases the risk of carotid arteries structural changes: by IMT (>0,9 mm) – 3 times [OR95%CI:1.09–7.74; p = 0.027], atherosclerotic plaques – 10 and 5 times [OR95%CI:2.55–38.0; p < 0.001 and OR95%CI:1.61–13.27; p = 0.003]. Besides, the T-allele of GNB3 gene enhances the high sVCAM-1 levels probability over 3 times [OR95%CI:1.06–9.59; p = 0.032].
Moderate and severe ED grades increase the risk of severe EAH 3 and 5.5 times [OR95%CI:1.13–9.34; p = 0.025 and OR95%CI:1.96–14.45; p < 0.001]. The severe EAH course risk is associated more with the structural changes of the carotid arteries (IMT > 0,9 mm increases the likelihood 3.5 times (p = 0.012), atherosclerotic plaques – 4 and 3.5 times (p < 0,05) and decreased NOS3 gene expression – 3 times (p = 0.042), but not depend on separate ED markers (FMD BA, total NO metabolites or sVCAM-1).

Conclusions:
ED enhance the risk of severe EAH course 3–5.5 times. c-allele of NOS3 gene elevates the risk of both structural changes of the carotid arteries 3.5 times and particularly ED – 4–69 times. T-allele of GNB3 gene increases the risk of the carotid arteries structural changes more than ED – 3.5–4 vs 3 times as well.
25(OH)D AS A RISK FACTOR OF ESSENTIAL ARTERIAL HYPERTENSION CONSIDERING THE GENES POLYMORPHISM AGTR1 (RS5186) AND VDR (RS2228570)
Authors: Semianiv Marianna 
Published: June 2022

Objective:
Essential arterial hypertension (EAH) remains the most common global non-communicable disease. More than 50% of patients with hypertension have additional cardiovascular risk factors. The aim of this study is to establish the role of 25-hydroxyvitamin D as an additional risk factor of EAH depending on 1166A>C polymorphism of AGTR1 gene (rs5186) and A/G polymorphism of VDR gene (rs2228570).

Design and method:
100 subjects with EAH and target-organ damaging (2nd stage), moderate, high, very high cardiovascular risk were involved in the case-control study. Among them, 70.84% females, 29.16% males, mean age 57.86 ± 7.81 yo. The control group consisted of 60 healthy individuals of relevant gender and age. All recruited subjects were tested for serum levels 25-hydroxyvitamin D (immune luminescent test “MAGLUMI’’, “SNIB’’, China). To detect gene polymorphism the qualitative real-time polymerase chain reaction was done. AGTR1 gene genotyping was performed for 72 patients and 48 healthy individuals and VDR gene – for 100 patients and 60 healthy subjects.

Results:
EAH associates with the decreased 25-hydroxyvitamin D (<30 ng/ml) regardless the genotypes AGTR1 (rs5186) and VDR (rs2228570) genes. Reduced serum level of 25-hydroxyvitamin D escalate the risk of EAH almost threefold (OR – 2.90; 95%CI OR:1.0–8.59; p = 0.048).

Conclusions:
Low level of 25-hydroxyvitamin D increases the EAH risk regardless the AGTR1 (rs5186) and VDR (rs2228570) genes’ alleles in the examined population.
OBESITY AND VITAMIN D RECEPTOR (VDR, RS2228570) GENE POLYMORPHISM ASSOCIATION IN PATIENTS WITH ESSENTIAL ARTERIAL HYPERTENSION
Authors: Repchuk Yuliya 
Published: June 2022

Objective:
The study purpose was to analyze the association of vitamin D receptor (VDR, rs2228570) gene polymorphism with obesity in patients with essential arterial hypertension (EAH).

Design and method:
The study involved 100 patients suffering from EAH with target-organ damaging, moderate, high or very high cardiovascular risk. Among them, 79.0% (79) women and 21.0% (21) men, average age 59,86 ± 6,22 y o. The control group involved 60 practically healthy persons, matched by age and sex distribution. All enrolled/screened patients signed the Informed Consent to participate in the research. To examine polymorphism of VDR (rs2228570) gene a qualitative real-time polymerase chain reaction was made. Obesity was defined as a body mass index (BMI) of > 30 kg/m2.

Results:
The genotypes distribution of the VDR (rs2228570) gene in patients vs control group did not differ reliably and was as follows: AA-, AG-, GG-genotypes – 23.0% vs 30.0%, 50.0% vs 46.67%, 27.0% vs 23.33% (p> 0.05) accordingly. Distribution of the genes polymorphic variants corresponded to the Hardy-Weinberg Equilibrium (p > 0.05).
There were no statistically significant differences in the distribution of BMI between patients with EAH and almost healthy GG-genotype carriers of the VDR gene. AG- and AA-genotype carriers in control group were relatively more likely to register persons with normal BMI (18.5 - 24.9 kg/m2) than among patients - by 14.0 % (x2 = 6.06; p = 0.014) and 15,67 % (p < 0.001). While among A-allele carriers with EAH were more patients with obesity - by 17.67 % (x2 = 9.51; p = 0.002) and 8.67 % (x2 = 3.53, p = 0.05), respectively.

Conclusions:
Regarding polymorphic variants of the VDR gene, in A-allele carriers with EAH (AA-, and especially AG-genotypes) the risk of obesity increases almost 4 and 8 times [OR = 3.95; p = 0.05 and OR = 7.71; p = 0.001] with the lowest probability of having a normal BMI. In this case, the GG-genotype of the VDR gene is not a risk factor for obesity in the population we examined.
TELOMERE LENGTH IS NEGATIVELY ASSOCIATED WITH BMI, R WAVE IN AVL AND IL-6 LEVEL IN PATIENTS WITH NEW CASES OF HYPERTENSION
Authors: Podpalova Olga , Kaliadka Marina , Babenka Andrei , Mrochek Aleksandr 
Published: June 2022

Objective:
The aim of the study was to investigate the association between lymphocyte telomere length and cardiovascular risk factors in patients with new cases of hypertension according to 10-years prospective study in urban randomised population.

Design and method:
In 2007/2008 10-years prospective study of 3500 persons living in a district of Vitebsk (Belarus) and selected by the random number method started (coverage of the survey was 97.9%). According to the results of first examination 2170 persons had normal blood pressure. 1862 of them were examined on the second stage of the study in 2012/2013 (coverage of the survey was 85,8%). 286 new cases of hypertension were revealed and they had significant positive relationship with the IV quartile of uric acid level (> = 339 mol/l), determined on the first stage of the study. A 10-years prospective analysis was provided in 2017/2018 and included 145 randomized subjects with hypertension diagnosed on the second stage of the study.

Results:
We examined 2170 persons with normal blood pressure in 2007/2008. On the second stage of the study 286 new cases of hypertension were diagnosed in these subjects (14,4% of men and 12,2% of women). According to multifactorial regression analysis of 145 randomized subjects of 286 new cases of hypertension, adjusted for age and sex, the IV quartile of uric acid level (339–527 mol/l), determined on the first stage of the study, was associated with the I quartile of telomere length in 10 years (df = 1; 2Wald = 4,5; p < 0,05). Cross-sectional analysis of these subjects showed that the level of telomere length had a significant negative association with BMI (=-0,19; p < 0,05), R wave in aVL (=-0,18; p < 0,05), IL-6 level (=-0,20; p < 0,05) in 2017/2018.

Conclusions:
Regardless of age and sex, telomere length has negative association with BMI, R wave in aVL and IL-6 level in patients with new cases of hypertension.
ANGIOTENSIN CONVERTING ENZYME GENE POLYMORPHISMS AND PULSE PRESSURE INDEX
Authors: Ozturk Onder , Ozturk Cansu 
Published: June 2022

Objective:
Elevated pulse pressure (PP) may lead to an increased risk of cardiovascular morbidity and mortality. To get over the failure of PP, there is a new parameter, “pulse pressure/systolic pressure’’ called “pulse pressure index (PPI)’’ for assessment of cardiovascular prognosis. The present study aimed to determine the effects of polymorphism of the Angiotensin Converting Enzyme (ACE) gene polymorphisms on the PPI after a first anterior acute myocardial infarction (AMI).

Design and method:
Overall 140 patients with a first anterior AMI were included in this cross-sectional study. Based on the polymorphism of the ACE gene, they were classified into 2 groups: Deletion/Deletion (DD) genotype (Group 1, n = 57), Insertion/Deletion (ID), Insertion/Insertion (II) genotypes (Group 2, n = 83) (Figure 1). PPI was calculated “ pulse pressure / systolic pressure’’. Echocardiographic examinations were performed to the recommendations of the American Echocardiography Committee.

Results:
There were no significant differences among clinical parameters of patients (Table 1). PPI was significantly higher in patients who have ACE DD genotypes than in patients who have ACE II / ID genotype (0.467 ± 0.0483 and 0.391 ± 0.0415, P 0.028).

Conclusions:
In this study we found that ACE Gene I / D polymorphism D allele affects PPI in patients with a first anterior AMI.
IDENTIFICATION OF A GROSS DELETION MUTATION OF GLA GENE IN A FABRY DISEASE FAMILY CHARACTERIZED BY ATRIAL FIBRILLATION AND MYOCARDIAL HYPERTROPHY
Authors: Lu Yiting , Fan Peng , Zhou Xianliang 
Published: June 2022

Objective:
Fabry disease is a rare X-linked lysosomal storage disease caused by GLA gene mutations, which results in the deficient activity of -galactosidase A. The decreased enzymatic activity consequently leads to abnormal accumulation of the substrate glycosphingolipids in multi-organ. Herein, we reported a Chinese family with Fabry disease predominantly characterized by atrial fibrillation and myocardial hypertrophy.

Design and method:
We collected venous blood samples from all participants and genomic DNA was exacted for genetic testing. Conventional GLA cDNA analysis and multiplex ligation-dependent probe amplification (MLPA) analysis was performed in a Chinese family highly suspected of Fabry disease.

Results:
Genetic analysis identified a gross deletion (IVS1_IVS2del) in GLA gene in the proband and other 3 family members. There was a large deletion on both sides of the 5’ breakpoint of the first Alu repeat in intron 1 and the 3’ breakpoint of the seventh Alu repeat in intron 2, which may be caused by the recombination of AluAlu repeat. The proband mainly presented with cardiac symptoms, including atrial fibrillation and myocardial hypertrophy. Family history of heart disease was positive, including index’ maternal uncle and grandmother who died of sudden cardiac death, index’ mother and aunt with atrial fibrillation and myocardial hypertrophy. All affected patients had insufficient -galactosidase A activity.

Conclusions:
The phenotype of Fabry disease is complex and variable. Patients with Fabry disease are often complicated with cardiac involvement, which may be neglected easily. Enzyme activity test and genetic analysis are effective methods for the precise diagnosis of Fabry’s disease.
EFFICACY AND SAFETY OF NIFEDIPINE GASTROINTESTINAL THERAPEUTIC SYSTEM VERSUS RAMIPRIL IN CHINESE AND EUROPEAN PATIENTS WITH HYPERTENSION
Authors: Zhang Wei , Liu Chang-Yuan , Bilo Grzegorz , Soranna Davide , Zambon Antonella , Kyriakoulis Konstantinos , Kollias Anastasios , Ceravolo Isabella , Cassago Silvia , Pengo Martino , Stergiou George S. , Wang Ji-Guang , Parati Gianfranco 
Published: June 2022

Objective:
In a post-hoc analysis of a multinational, randomized trial, we investigated whether the efficacy and safety of ramipril and nifedipine gastrointestinal therapeutic system (GITS) differed between the Chinese and European patients with hypertension.

Design and method:
Previously treated and untreated (2 weeks washout) male and females patients aged 35–75 years with a clinic systolic/diastolic blood pressure (BP) over 140/90 mmHg and a daytime ambulatory systolic/diastolic BP over 135/85 mmHg were randomly assigned to ramipril 10 mg or nifedipine GITS 30 mg for 10 weeks in monotherapy (main study) and for an extension to 12 months with the possible up-titration of the monotherapy and combination with a diuretic or an alpha-blocker (extension study). BP lowering efficacy was evaluated for clinic, ambulatory and home BP at 10 weeks and 12 months follow-up.

Results:
The 67 Chinese and 101 European patients significantly (P < 0.01) differed in several major characteristics such as age (50.9 vs. 54.6 years), body-mass index (24.5 vs. 27.0 kg/m2), heart rate (75.0 vs. 70.8 beats/minute) and clinic (87.9 vs. 92.5 mmHg) and nighttime diastolic BP (79.3 vs. 75.9 mmHg), but did not differ in any characteristic between the ramipril and nifedipine GITS groups within each ethnicity (P> 0.05). BP was similarly reduced in the two treatment groups in both Chinese and European patients, except for a significantly greater daytime systolic/diastolic BP reduction in the ramipril than nifedipine-GITS group in the Chinese patients (+7.4/ + 4.1 mmHg, P = 0.02). The Chinese, compared with European patients, had a higher incidence rate of all adverse events (13 [38.2%] vs. 14 [28.6%], P = 0.48) and dry cough in the ramipril group (11 [32.4%] vs. 3 [6.1%], P = 0.003) but lower incidence rate of all adverse events in the nifedipine GITS group (4 [12.1%] vs. 18 [34.6%], P = 0.02).

Conclusions:
In the Chinese and European patients with hypertension, ramipril and nifedipine GITS had similar BP lowering efficacy, but different incidence rate of adverse events.
PREVALENCE AND INCIDENCE OF ARTERIAL HYPERTENSION OVER 36 MONTHS IN AMBULATORY HIV INFECTED PATIENTS ON ANTIRETROVIRAL THERAPY IN LILONGWE, MALAWI
Authors: Steffen Hans-Michael , Nhlema Angellina , Phiri Sam , Kasper Philipp , Chaweza Tom , Forest Andrew De , Heller Tom , Tweya Hannock , Mahanani Melani Ratih , Winkler Volker , Neuhann Florian 
Published: June 2022

Objective:
According to a meta-analysis hypertension (HT) prevalence is higher in HIV infected patients (PLHIV) on antiretroviral therapy (ART) compared to ART-naïve patients. As part of the prospective LighTen Cohort Study (ClinicalTrials.gov NCT02381275) we examined blood pressure (BP) changes in ambulatory PLHIV who had initiated tenofovir-containing ART.

Design and method:
Anthropometric measurements of study participants (age > = 18 years) were documented at baseline and during study visits after 1, 3, 6 and every 6 months thereafter. Systolic and mean office BP values (OBP, oscillometric measurements) for PLHIV, who were still active study participants at month 36 were analyzed. Age, gender, and anthropometric measurements were included in univariate and multivariate multilevel analysis to test for their effects on changes in BP (R statistical software, version 4.1.2).

Results:
BP measurements on at least two occasions were available for 1,288 PLHIV and HT was confirmed at baseline and during follow-up in 173 (13.4%) and 50 cases (4.7%), respectively. For the whole cohort systolic and mean BP increased from month 12 onwards with a significant (p < 0.001) impact of weight gain and age while female sex was protective. 36-month data from 799 (474 females, 325 males, mean age 37.1 ± 9.2 years) could be analyzed. Although the number of patients on antihypertensive drug treatment (HT Tx) nearly tripled (23 vs. 61), BP was uncontrolled in 125/799 PLHIV (15.6%) compared to 115/799 (14.4%) at baseline (Chi2-test p < 0.001).

Conclusions:
The proportion of patients with hypertensive BP values increased after initiating ART despite higher HT Tx rates. Counselling of PLHIV on measures regarding control of body weight and improved HT Tx compliance should be embedded into patient education programs at HIV centers.
TOTUM-854 REDUCTION OF BLOOD PRESSURE IS ASSOCIATED WITH AN ANTI-OXIDATIVE EFFECT IN SHR RATS
Authors: Ripoche Doriane , Michaux Arnaud , Pialoux Vincent , Vallier Marie , Langhi Cedric , Chavanelle Vivien , Otero Yolanda F. , Peltier Sebastien , Sirvent Pascal 
Published: June 2022

Objective:
Arterial Hypertension (AHT) is a major cause of premature death worldwide. We have developed Totum-854 (T-854), a polyphenol-rich botanical composition to reduce the risk of developing AHT. We assessed the acute and chronic effects on blood pressure in spontaneous hypertensive rats (SHR).

Design and method:
Acute protocol: 12-week-old SHR rats received a dose of vehicle or T-854 (1250 mg/kg) per os with a 48h-wash-out interval between two gavages, in random order.
Chronic study: 18-week-old SHR rats received vehicle or T-854 (1000 mg/kg) per os once a day for 8 weeks.
Arterial pressure was recorded during 24 h post-gavage (acute protocol) and for 2 hours once a week (chronic protocol) with a radio-telemetry device (HD-S10, DSI) directly implanted into the abdominal aorta.

Results:
Acute supplementation with T-854 induced a reduction in SBP and DBP during the 24 h recording after gavage in comparison to vehicle, with 24h-AUC decreased by 93.6mmHg.h ± 67.8mmHg.h and 70.8mmHg.h ± 54.6mmHg.h respectively.
When T-854 was administered chronically, SBP and DBP were decreased from the 4th week after the start of supplementation in comparison to vehicle group. This reduction was maintained in the last weeks, with blood pressure values around baseline in T-854 SHR rats. Tissue analysis showed a plasma SOD activity increase and a decrease of aorta media thickness after 8-weeks T-854 supplementation, suggesting a potential protector role of T-854 on oxidative stress and vascular function.

Conclusions:
T-854 24h-post-gavage acute effect on blood pressure in hypertensive SHR rats suggests a rapid effect, with a decrease in blood pressure few hours after oral administration, and maintained during the time of the experiment. Moreover, T-854 prevents the development of AHT in SHR supplemented during eight weeks. In conclusion, T-854 appears as an efficient strategy to prevent AHT.