bluuebunny/crossref_metadata_2025_split huggingface dataset:
A FRAMESHIFT MUTATION IN THE SCNN1B GENE CAUSING LIDDLE SYNDROME AND A GENOTYPE-PHENOTYPE CORRELATION OF 18 CASES WITH THE P603 RESIDUE VARIANT
Authors: Lu Yiting , Liu Xinchang , Zhang Di , Sun Lin , Yang Kunqi , Zhang Lin , Liu Yaxin , Zhou Xianliang 
Published: June 2023

Objective:
Liddle syndrome is an autosomal dominant form of monogenic hypertension caused by mutation of the SCNN1A, SCNN1B, and SCNN1G genes, which respectively encode various subunits of the epithelial sodium channel. In this report, we describe a frameshift mutation in SCNN1B in a Chinese family with early-onset hypertension and hypokalemia.

Design and method:
DNA was extracted from leucocytes in peripheral blood obtained from all family members. Whole-exome sequencing and Sanger sequencing were performed to verify the candidate variant and conduct co-segregation analysis. We also reviewed the clinical and biochemical characteristics of patients with the same mutation described in the literature and performed a genotype–phenotype correlation analysis.

Results:
Whole-exome sequencing identified a c.1806dupG frameshift variant in SCNN1B leading to substitution of alanine for proline at position 603 and premature emergence of a stop codon at position 607. Phenotypic heterogeneity is evident in patients with the mutation reported in the literature and is reflected in the proportions with hypertension (94.4%), hypokalemia (58.9%), hypoaldosteronemia (52.9%), and hyporeninemia (41.1%). Patients with the mutation have a good response to targeted ENaC inhibitor therapy.

Conclusions:
We have identified a frameshift mutation (c.1806dupG) in SCNN1B in a Chinese family characterized by early-onset hypertension and hypokalemia. Confirmatory genetic testing is necessary and targeted therapy should be used to prevent premature onset of clinical endpoints events in patients suspected to have mutation. Genotype-phenotype correlation analysis involving the P603 residue variant provides further evidence of phenotypic heterogeneity and guidance for clinical management of Liddle syndrome.
ASSESSING CAUSALITY BETWEEN CAROTID-FEMORAL PULSE WAVE VELOCITY AND COGNITIVE FUNCTION: A MENDELIAN RANDOMIZATION STUDY
Authors: Chuang Shao-Yuan , Chung Ren-Hua , Lin Chen-Hua , Cheng Hao-Min , Pan Wen-Harn , Chen Chen-Huan 
Published: June 2023

Objective:
Arterial stiffness is usually significantly associated with cognitive function. We conducted a Mendelian randomization study to investigate the causal relationship between measures of arterial stiffness and cognitive function in a cross-sectional survey.

Design and method:
A total of 1516 adults aged more 30 years old in the CardioVascular Disease risk FACTors in two townships Study (CVDFACTS) with wave 6 and wave 7 during 2013-2020 were evaluated for artery stiffness with carotid-femoral pulse wave velocity (CFPWV) and cognitive function with Mine-Mental Short Evaluation (MMSE). A genome-wide association study was used to identify the genetic variants associated with CFPWV. Mendelian Randomization analysis was conducted using the R software.

Results:
A total of 87 SNP were identified (p-value<10-6) in the KDM4B gene (Chromosome-19) and 3 SNPs [rs10085112, rs2613776 and rs147498368] of them were independently associated with CFPWV. We constructed a polygenetic risk score (PRS, 1-6) with the 3 significant SNPs. PRS was the genetic variant and instrumental variable in the Mendelian Randomization. PRS was significantly associated with CFPWV (beta = -0.37, p = 0.0003), the “exposure”, and MMSE (beta = 0.14, p = 0.031), the “outcome”. In contrast, PRS was not associated with age, sex, systolic/diastolic blood pressure, body mass index, fasting glucose, total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, C-reactive protein, creatinine and uric acid, the “confounders”. Mendelian Randomization estimate (95% confidence intervals) of the causal effect of the exposure (CFPWV) on the outcome (MMSE) was -0.433 (-0.810, -0.056, p-value = 0.0244).

Conclusions:
Our study provides evidence that KDM4B gene may be instrumental in the causal relationship between artery stiffness measured by CFPWV and cognitive function measured by MMSE in a Han Chinese population.
DRUG-MEDIATED IMPROVEMENT IN GLOBAL DNA METHYLATION AMONG HYPERTENSIVE INDIVIDUALS: OBSERVATIONS FROM NORTH-INDIAN POPULATION-BASED STUDY
Authors: Kallur Nava Saraswaty 
Published: June 2023

Objective:
Hypertension has been reported to affect global DNA methylation levels negatively. However, the effect of anti-hypertensive drugs on methylation levels remains understudied. The present study aims to explore the relationship between the use of anti-hypertensive drugs and peripheral blood leucocyte global DNA methylation levels in two North-Indian populations.

Design and method:
The present study combines the observations of two population-based cross-sectional studies conducted among adult individuals (aged 30 years and above) of either sex belonging to the Jat community of Palwal, Haryana (n = 543) (completed), and the Jat Sikh community of Mansa district, Punjab (n = 148) (ongoing). Data pertaining to socio-demographic variables and the use of anti-hypertensive drugs were collected using pre-tested and modified interview schedules. Anthropometric measurements and blood pressure were captured from each participant using standard protocols. Peripheral blood leucocyte global DNA methylation levels were estimated using ELISA-based colorimetric technique. SPSS version 22 was used to perform statistical analysis.

Results:
Hypertensive cases were found to be significantly hypomethylated than the control groups in both communities. When stratified for medication, the median global DNA methylation level of hypertensive cases on any type of anti-hypertensive drug was found to be significantly higher than that of those hypertensive individuals who were not on medication. In fact, median DNA methylation levels of hypertensive cases on medication were comparable to that of controls. These trends were consistent in both the studied populations.

Conclusions:
The use of anti-hypertensive drugs appears to improve the global DNA methylation level among hypertensive cases. More studies are required to understand the pathway through which antihypertensive drugs act on DNA methylation levels and if improving DNA methylation levels through dietary interventions would have a similar antihypertensive effect.
HYPERTENSIVES USERS OF HEALTH WEB PORTALS: WHO ARE THEY? PROTOCOL AND PRELIMINARY RESULTS
Authors: Bédard Joany Rousseau , Cloutier Lyne , Michaud André 
Published: June 2023

Objective:
In Canada, 1 in 4 adults has hypertension. Many of them, concerned about their health, often turn to Internet to seek information. In order to meet this information need, the Quebec Society of Vascular Sciences has created a web portal. The information presented has been developed by profesionals but formulated as to be understand easily by lay people. However, literature still offer little to no data on the characteristics of users of these health portals. The purpose of the study is to characterize hypertensives who use health web portals.

Design and method:
This descriptive cross-sectional study is part of an ongoing multicenter project. This current study includes 250 participants with vascular disorders and aims to characterize all users of a health web portal. In the course of this sub-study, only individuals with a diagnosis of hypertension (n > 125) are included for analysis.

Results:
A validated and tested self-administered electronic questionnaire was developed with the Technology Acceptance Model 3 and will be presented in the communication. This questionnaire also explores personal characteristics, motivation and digital competence. The protocol and the preliminary results describing the characteristics of individuals with hypertension who use a health web portal, including motivations for use and digital competence will also be included.

Conclusions:
The results will help guide arterial hypertension societies in the development of health information Web portals.
LONG-TERM EFFECTIVENESS OF A VILLAGE DOCTOR-LED MULTIFACETED STRATEGY ON BLOOD PRESSURE CONTROL: A CLUSTER RANDOMIZED TRIAL
Authors: He Jiang , Ouyang Ouyang , Sun Guozhe , Guo Xiaofan , Zhang Xingang , Mu Jianjun , Wang Dao Wen , Chen Jing , Sun Yingxian 
Published: June 2023

Objective:
We tested the effectiveness of a village doctor-led multifaceted strategy on blood pressure (BP) control over 36 months among patients with hypertension in rural China. Village doctors are community health workers who provide basic primary health care in rural China.

Design and method:
326 villages were randomly assigned to the village doctor-led intervention or usual care. Individuals aged 40 years or older with an untreated mean BP 140/90 mm Hg or greater (130/80 mm Hg or greater in individuals with clinical cardiovascular disease) or treated BP 130/80 mm Hg or greater were recruited. The trained village doctors initiated and titrated antihypertensive medications according to a simple stepped-care protocol with supervision from primary care physicians. They also delivered discounted and free medications to patients and conducted health coaching on lifestyle change, medication adherence, and home BP monitoring. Intention to treat analysis was conducted.

Results:
At baseline, mean age (62.8 vs. 63.2 years), percentage of women (60.9% vs. 61.6%), mean systolic BP (157.0 vs. 155.5 mm Hg), and diastolic BP (88.1 vs. 87.3 mm Hg) were comparable between intervention and control groups. At 36 months, 72.5% of participants in the intervention and 11.7% in the control group had a BP less than 130/80 mmHg, with a net group difference of 60.8% (P<0.0001). Mean systolic BP decreased by -30.8 mmHg from baseline to 36 months in the intervention group and by -7.6 mm Hg in the control group, with a net group difference of -23.1 mm Hg (P<0.0001). Intervention effects on other outcomes are shown in the Table. No treatment-related serious adverse events were reported in either group.

Conclusions:
Conclusions: In rural China, the village doctor-led multifaceted strategy significantly reduced BP over 36 months in patients with hypertension. This proven-effective and sustainable implementation strategy could be scaled up throughout rural China and in other low- and middle-income countries for hypertension control.
RELATIONSHIP BETWEEN DIASTOLIC FUNCTION AND CARDIOVASCULAR OUTCOMES IN PATIENTS DURING 5 YEARS FOLLOW-UP AFTER DIAGNOSIS OF HYPERTENSION IN THE ARGENTINE POPULATION
Authors: Renna Nicolas Federico , Diez Emiliano Raul , Sanchez Francisco , Bernasconi Pablo , Miatello Roberto Miguel , Ramirez Jesica Magali 
Published: June 2023

Objective:
The aim of the study is to determine the impact of the presence of diastolic dysfunction in patients recently diagnosed with arterial hypertension on cardiovascular events after a follow-up period of 5 years.

Design and method:
A prospective observational study was conducted in 902 patients with a new hypertension diagnosis who underwent 24-hour blood pressure monitoring and echocardiography between 2015 and 2019. The incidence of serious adverse cardiovascular events (MACE) was analyzed using a Cox proportional hazards model adjusted for potential confounders.

Results:
The mean age was 59.7 years; 52% were female, 29.2% had dyslipidemia, 25.8% were smokers, and 7.9% had diabetes mellitus. During a median follow-up period of 33 months, 139 MACE occurred. For each year, HR increased by 1.03 (95% confidence interval [CI]:1.02-1.04, p < 0.001, Figure 1). In men, the adjusted hazard ratio (HR) was 1.49 (95% confidence interval [CI]:1.05-2.13, p = 0.027). Body mass index (BMI) presented a HR of 1.03 (95% CI: 1.00-1.06, p < 0.001). The Diastolic Function (DF) HR increased for Grade II to 3.28 (95% CI: 1.98-5.41, p < 0.001) and for Grade III to 2.95 (95% CI: 1.26-6.91, p < 0.001).

Conclusions:
The DF grade II and III was the most important prognostic factor for MACE in patients with hypertension.
DISTRIBUTION OF THE DEGREE OF RIGHT VENTRICULAR HYPERTROPHY WITH DIFFERENT SEVERITY OF LEFT VENTRICULAR HYPERTROPHY IN ARTERIAL HYPERTENSION
Authors: Kerimkulova Aiman , Veber Viktor , Proshina Lidiya , Markabayeva Akbayan , Nurpeissova Riza , Adiyeva Madina , Idrissov Alisher 
Published: June 2023

Objective:
To study the interrelation of the influence of left ventricular hypertrophy (LVH) on the frequency of the distribution of the degree of right ventricular hypertrophy (RVH) in patients who died suddenly during their lifetimes who suffered from arterial hypertension according to an autopsy

Design and method:
A retrospective study was conducted, which explored the autopsy protocols of patients suffered from hypertension (1999-2014) in Semey, Kazakhstan, suffered from hypertension during life and died suddenly. The normal wall thickness of the left ventricle was taken as 0.7-1.2 cm, the right ventricle 0.2-0.3 cm. The hypertrophy of the walls of the left and right ventricles was conventionally divided into 2 degrees. The hypertrophy of the walls of the left ventricle and the right ventricle was conditionally divided into 2 degrees, LVH: I degree - 1.3-2.0 cm, II degree - 2.1 or more; RVH: I degree - 0.4-0.6 cm, II degree - 0.7 cm or more.

Results:
When conducting a study of these protocols of persons, the thickness of the right ventricle was presented in 614 autopsy protocols. The distribution of LVH was the following: 1 degree 51.1%; 2 degree 48.9%. While the data on the distribution of RVH are as follows: the norm is 13%; 1st degree 33.9%; 2 degree 53.1%. At the same time, with 1 degree of left ventricular hypertrophy, the following distribution of RVH is noted: the norm is 22.6%; 1st degree - 46.8%; 2 degree - 30.6%. Then with 2 degrees of LVH, respectively: 3%, 20.3%, 76.7%, p <0.0001. At 1 and 2 degrees of LVH, the frequency of detection of 2-degree RVH was, respectively, 30.6% and 76.8%. A direct correlation was found between the wall thickness of the left and right ventricles (r = 0.478).

Conclusions:
RVH is a common symptom in hypertension, up to 87% according to autopsy examination. LVH 1 and 2 degrees in the study group were equally distributed. The more pronounced the values of the degree of LVH, the more pronounced the degree of RVH. With LVH of the 2 degree, 2 times more often detected 2nd degree RVH.
BP PHENOTYPES IN PATIENTS UNDERGOING LONG-TERM PERITONEAL DIALYSIS DEFINED WITH HOME VERSUS AMBULATORY BP MONITORING
Authors: Vareta Georgia , Georgianos Panagiotis , Vaios Vasilios , Sgouropoulou Vasiliki , Chrapis Panagiotis , Anastasiou Stefanos , Divanis Dimitrios , Zebekakis Pantelis , Liakopoulos Vassilios 
Published: June 2023

Objective:
The concomitant assessment of office with out-of-office blood pressure (BP) measurements enables the identification of white-coat and masked hypertension. The aim of the present study was to explore the prevalence of these BP phenotypes in end-stage kidney disease patients undergoing peritoneal dialysis (PD) with the use of home versus ambulatory BP monitoring.

Design and method:
In 140 patients receiving long-term PD in 4 centers of Northern Greece, we assessed the BP with the following methods: (i) triplicate office BP measurements after a 5-minute seated rest with the automatic device HEM 705-CP (Omron, HealthCare); (ii) home BP measurements twice daily for 7 consecutive days with validated BP monitors; (iii) 24-hour ambulatory BP monitoring with the oscillometric device Mobil-O-Graph (IEM, Stolberg, Germany). The BP phenotypes were diagnosed using the threshold of 140/90 mmHg for office measurements and the threshold of 135/85 mmHg for home and daytime ambulatory BP recordings, respectively.

Results:
When office BP recordings were assessed together with home BP measurements, 57 patients (40.7%) were classified as normotensives, 8 patients (5.7%) had white-coat hypertension, 21 patients (15.0%) had masked hypertension and the remaining 54 patients (38.6%) had sustained hypertension. With the evaluation of office and daytime ambulatory BP, 59 patients (42.1%) had normotension, 13 patients (9.1%) had white-coat hypertension, 19 patients (13.6%) had masked hypertension and 49 patients (35.0%) had sustained hypertension. In 119 out of 140 patients (85.0%), there was absolute agreement between home and daytime ambulatory BP in the diagnosis of BP phenotype (k-coefficient: 0.775, P<0.001).

Conclusions:
The present study shows that among patients undergoing PD, there is satisfactory agreement between home and daytime ambulatory BP in the identification of phenotypes of white-coat and masked hypertension.
IS HOME BLOOD PRESSURE MONITORING USEFUL IN THE DIAGNOSIS AND MANAGEMENT OF REFRACTORY HYPERTENSION?
Authors: Santos Taissa Lorena Dos , Margallo Victor da Silva , Pimenta Carlos Filipe dos Santos , Cavalcanti Aline de Holanda , Nemer Camila Bello , Fortes Carolina de Carvalho , Sousa Vitória Miriam da Silva de , Chedier Bernardo , Muxfeldt Elizabeth Silaid 
Published: June 2023

Objective:
Refractory hypertension (RefHT) is defined as uncontrolled blood pressure (BP) despite the use of 5 or more antihypertensives including a long-acting thiazide diuretic and a mineralocorticoid receptor antagonist. It is a subgroup of resistant hypertension (RHT) with recent definition and behavior of extreme severity and refractoriness to treatment. Among resistant hypertensives, the use of ABPM is mandatory, and it has already been shown that HBPM is a good alternative in the follow-up of these patients.

Design and method:
Cross-sectional study of a historical cohort of patients with RHT. A total of 354 patients (23.9% male; mean age 60.4 ± 11.1 years old) were submitted to 24-hour ABPM and 5-day HBPM (triplicate morning and evening measurements). All underwent a standardized protocol for assessment of cardiovascular risk, sociodemographic and anthropometric data, laboratory evaluation (metabolic profile and renal function), transthoracic Doppler echocardiography and measurement of pulse wave velocity (PWV).
The prevalence of refractory hypertension diagnosed by office BP, HBPM and ABPM were calculated. Sensitivity, specificity, predictive values, and likelihood ratios for HBPM were also calculated. Agreement between the procedures was evaluated using kappa coefficients and the Bland–Altman method.

Results:
The prevalence of refractory hypertension was 20.3% by ABPM and 18.9% by HBPM. Compared to resistant ones, refractory hypertensives diagnosed by HBPM are younger, with a higher prevalence of heart failure and higher levels of albuminuria. In turn, patients with RefHT diagnosed by ABPM are also younger, but they have a higher prevalence of stroke and previous cardiovascular disease, in addition to higher albuminuria.
HBPM overestimated systolic BP by 11.2 ± 18.4 mmHg (correlation coefficient = 0.63; Bland-Altman coefficient = 37) and diastolic BP by 2.4 ± 9.2 mm Hg (correlation coefficient = 0.80; Bland-Altman coefficient = 18). The specificity, sensitivity, and positive and negative predictive values of HBPM in detecting RefHT diagnosed by ABPM were 88%, 98%, 97%, and 94%. The kappa coefficient showing excellent agreement (kappa = 0.884).

Conclusions:
HBPM presented good agreement with ABPM and can be used as a diagnostic method of refractory hypertension.
ASSESSMENT OF LEFT VENTRICULAR FUNCTION USING SPECKLE TRACKING ECHOCARDIOGRAPHY IN PATIENTS WITH ESSENTIAL HYPERTENSION
Authors: Mabrouk Mohammad Shafiq , Abdelhady Yasser Ahmed , Hassan Mostafa Mohammad 
Published: June 2023

Objective:
Hypertension leads to left ventricular hypertrophy which directly predisposes to and aggravates irreversible deterioration of LV function. Novel quantitative techniques in echocardiographic deformation imaging such as speckle-tracking echocardiography (STE) can measure LV strain. In this study, we will test speckle-tracking echocardiography as a diagnostic tool for the early detection of cardiac malfunction due to arterial hypertension

Design and method:
This cross-sectional, case-control study was held at Beni Suef University Hospitals between March/2018 and February/2020. The study included 90 patients that were divided into 3 groups. Group I (control group) included 30 people without apparent cardiovascular risk factors and matched in age and sex with the study groups. Group II included 40 hypertensive patients without echocardiographic evidence of left ventricular hypertrophy (LVH). Group III included 20 hypertensive patients with echocardiographic evidence of left ventricular hypertrophy (LVH). All patients underwent full clinical examination, conventional echocardiography, and 2D speckle tracking echocardiography

Results:
The studied groups were comparable regarding age and sex. Septal and posterior wall thickness and left ventricular mass index were significantly higher among group III. Otherwise, other conventional echo parameters were comparable. There was statistically significant difference between the 3 groups regarding 2D speckle tracking echocardiography

Conclusions:
In hypertensive patients with or without LVH, subclinical reduction or impairment of the LV systolic function can occur & may not be detected with conventional echocardiography but can be detected by 2D STE presented by mainly decreased myocardial segments deformation detected by decreased longtitudinal systolic strain mainly affecting basal segment
ASSOCIATION BETWEEN ARTERIAL STIFFNESS AND LEFT ATRIAL FUNCTION IN PATIENTS WITH HYPERTENSION
Authors: Kim Minkwan , Jung In Hyun , Bae Sunga 
Published: June 2023

Objective:
The association between arterial stiffness and left ventricle (ventricular-arterial coupling) has been demonstrated by several studies. Left atrial reservoir strain (LARS), one of the indicators of left atrial function, is known to predict prognosis, early diagnosis, and recurrence after an intervention. However, the association between arterial stiffness and LARS is not well studied.

Design and method:
From August 2021 to November 2022, we obtained data retrospectively from the patients with hypertension visiting a cardiovascular clinic and conducting both exams of transthoracic echocardiography and brachial-ankle pulse wave velocity (baPWV) in a single referral hospital. Patients with significant structural heart disease were excluded. Pearson's correlation analysis was used to analyze the linear correlation between baPWV and LARS. In addition, we used multivariable logistic regression analysis to evaluate the diagnostic performance of LARS to predict increased arterial stiffness.

Results:
The 202 participants were enrolled in the present study (62.3 ± 14.0 years and 57.7% male). The median baPWV value was 15.6 m/s (interquartile range 13.7 to 18.4). Fifty-four participants (26.7%) had more than 18.0 m/s. Participants with increased arterial stiffness were older and had higher systolic blood pressure, and higher use of calcium channel blocker, but lower level of hemoglobin and estimated glomerular filtration rate. Among echocardiographic parameters, participants with increased arterial stiffness had lower septal e’, but higher septal E/e’, peak velocity of tricuspid regurgitation, and LA volume index. There were no significant differences in systolic parameters, including left ventricular (LV) ejection fraction and LV global longitudinal strain. LARS showed a modest correlation with baPWV (r = -0.320, p<0.001). Participants with increased arterial stiffness had lower LARS than those without (25.0 ± 9.2% vs. 30.4 ± 7.2%, p<0.001). In multivariable logistic regression analysis, LARS was an independent variable affecting increased arterial stiffness with demographic, laboratory, and echocardiographic parameters (adjusted odds ratio 3.41, 95% confidence interval 1.14-10.22, p = 0.029)

Conclusions:
Increased arterial stiffness measured by baPWV was associated with decreased LA function evaluated with LARS.