Publications by authors named "Safarova M"

Article Synopsis
  • Arrhythmogenic cardiomyopathy (ACM) is a genetic heart condition that leads to thinning of the heart walls and can cause sudden death, particularly in young individuals; it often affects both sides of the heart and may be hard to diagnose due to varying symptoms.
  • A case study discusses a 22-year-old Black male who experienced palpitations and syncope, ultimately diagnosed with biventricular ACM through cardiac MRI and genetic testing, which confirmed multiple genetic mutations.
  • Effective management includes timely diagnosis, genetic counseling for family members, and the use of defibrillators to prevent life-threatening heart rhythms, highlighting the need for careful risk assessment and monitoring of ACM patients.
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There is a direct relationship between the duration and level of exposure to low density lipoprotein cholesterol (LDL-C) levels over one's lifespan and cardiovascular events. Early treatment to lower elevated LDL-C is crucial for better outcomes with multiple therapies currently available to reduce atherogenic lipoproteins. Statins remain the foundation of LDL-C lowering therapy as one of the most cost-effective drugs to reduce atherosclerotic events (ASCVD) and mortality.

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Since the 2019 National Lipid Association (NLA) Scientific Statement on Use of Lipoprotein(a) in Clinical Practice was issued, accumulating epidemiological data have clarified the relationship between lipoprotein(a) [Lp(a)] level and cardiovascular disease risk and risk reduction. Therefore, the NLA developed this focused update to guide clinicians in applying this emerging evidence in clinical practice. We now have sufficient evidence to support the recommendation to measure Lp(a) levels at least once in every adult for risk stratification.

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Unlabelled: Trunk control may influence self-care, mobility, and participation, as well as how children living with cerebral palsy (CP) move around. Mobility and Gross Motor performance are described over environmental factors, while locomotion can be understood as the intrinsic ontogenetic automatic postural function of the central nervous system, and could be the underlying element explaining the relationship between these factors. Our goal is to study the correlation among Trunk Control Measurement Scale (TCMS) and Pediatric Evaluation of Disability Inventory (PEDI) domains, as well as Locomotor Stages (LS).

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Aims: Current guidelines recommend measuring carotid intima-media thickness (IMT) at the far wall of the common carotid artery (CCA). We aimed to precisely quantify associations of near vs. far wall CCA-IMT with the risk for atherosclerotic cardiovascular disease (CVD, defined as coronary heart disease or stroke) and their added predictive values.

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Background The association between common carotid artery intima-media thickness (CCA-IMT) and incident carotid plaque has not been characterized fully. We therefore aimed to precisely quantify the relationship between CCA-IMT and carotid plaque development. Methods and Results We undertook an individual participant data meta-analysis of 20 prospective studies from the Proof-ATHERO (Prospective Studies of Atherosclerosis) consortium that recorded baseline CCA-IMT and incident carotid plaque involving 21 494 individuals without a history of cardiovascular disease and without preexisting carotid plaque at baseline.

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Purpose Of Review: Familial hypercholesterolemia (FH) and hyperlipoproteinemia(a) are relatively common disorders, posing a significant health burden due to increased risk of atherosclerotic cardiovascular disease (ASCVD). Development of electronic health record-based strategies with a linkage to the genetic test results has increased awareness, detection, and control of heritable lipid disorders. This review attempts to critically examine available data to provide a summary of the current evidence for lipoprotein apheresis in FH and elevated lipoprotein(a) (Lp(a)).

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Background: Idiopathic scoliosis (IS) is a structural spinal deformity that can affect the position of the head. One of the etiological hypotheses is that it can be caused by dysfunction of the vestibular system, which can cause abnormal perception of subjective visual vertical (SVV).

Objective: This study aimed to evaluate the differences in head position and its possible correlation with the perception of SVV in children with IS.

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Objective: High BMI is associated with many comorbidities and mortality. This study aimed to elucidate the overall clinical risk of obesity using a genome- and phenome-wide approach.

Methods: This study performed a phenome-wide association study of BMI using a clinical cohort of 736,726 adults.

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The extent of intervention effects on carotid intima-media thickness (CIMT) can predict the degree of atherosclerotic cardiovascular risk-reduction. We hypothesized that regular lipoprotein apheresis over the course of 10 years might slow down progression of CIMT in patients with severe hypercholesterolemia. This case series describes 10 Caucasian patients (mean age 60 ± 9 years, 70% female, 80% statin intolerant) with a severe hypercholesterolemia phenotype treated with lipoprotein apheresis between 2005 and 2020 (mean duration, 10 ± 4 years).

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The effects of vitamin D (Vit-D) deficiency and Vit-D treatment (VDT) on atrial fibrillation (AF) remain inconclusive. This study sought to determine the effects of VDT and nontreatment on AF risk in Vit-D-deficient patients without a previous history of AF. In this nested case-control study, 39,845 individuals with low 25-hydroxy-Vit-D ([25-OH]D) levels (<20 ng/ml) were divided into group-A (untreated, levels ≤20 ng/ml), group-B (treated, levels 21 to 29 ng/ml), and group-C (treated, levels ≥30 ng/ml).

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Objective: The aim of the study was to examine the effects of the vitamin D (Vit-D) treatment and nontreatment on Vit-D-deficient patients without a prior history of myocardial infarction (MI).

Materials And Methods: This was a retrospective, observational, nested case-control study of patients (N = 20 025) with low 25-hydroxyvitamin D ([25-OH]D) levels (<20 ng/mL) who received care at the Veterans Health Administration from 1999 to 2018. Patients were divided into 3 groups: Group A (untreated, levels ≤20 ng/mL), Group B (treated, levels 21-29 ng/mL), and Group C (treated, levels ≥30 ng/mL).

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Background: Lp(a) (lipoprotein [a]) levels are higher in individuals of African ancestry (AA) than in individuals of European ancestry (EA). We examined associations of genetically predicted Lp(a) levels with (1) atherosclerotic cardiovascular disease subtypes: coronary heart disease, cerebrovascular disease, peripheral artery disease, and abdominal aortic aneurysm and (2) nonatherosclerotic cardiovascular disease phenotypes, stratified by ancestry.

Methods: We performed (1) Mendelian randomization analyses for previously reported cardiovascular associations and (2) Mendelian randomization-phenome-wide association analyses for novel associations.

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Introduction: The pandemic of coronavirus disease (COVID-19) and related restrictions (closed schools and sports centers, social isolation, masks) may have a negative impact on children's health. The purpose of this study was to evaluate the level of physical activity (PA) of Czech children during COVID-19 in autumn 2020.

Methods: Ninety-eight Czech children (mean age = 10.

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We investigated monogenic and polygenic causes of hypercholesterolemia in a population-based cohort, excluding secondary hypercholesterolemia, and using an established framework to identify pathogenic variants. We studied 1682 individuals (50.2 ± 8.

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Background: Elevated triglycerides (TG) are associated with, and may be causal for, cardiovascular disease (CVD), and co-morbidities such as type II diabetes and metabolic syndrome. Pathogenic variants in APOA5 and APOC3 as well as risk SNVs in other genes [APOE (rs429358, rs7412), APOA1/C3/A4/A5 gene cluster (rs964184), INSR (rs7248104), CETP (rs7205804), GCKR (rs1260326)] have been shown to affect TG levels. Knowledge of genetic causes for elevated TG may lead to early intervention and targeted treatment for CVD.

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This paper presents a set of eleven functional Dynamic Neuromuscular Stabilization (DNS) tests corresponding with specific infantile developmental stages, clarifying desired postural-locomotion patterns from a developmental perspective, while also describing frequently-observed disturbances of these patterns.

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Background: To quantify the association between effects of interventions on carotid intima-media thickness (cIMT) progression and their effects on cardiovascular disease (CVD) risk.

Methods: We systematically collated data from randomized, controlled trials. cIMT was assessed as the mean value at the common-carotid-artery; if unavailable, the maximum value at the common-carotid-artery or other cIMT measures were used.

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Purpose Of Review: Although primarily designed for medical documentation and billing purposes, the electronic health record (EHR) has significant potential for translational research. In this article, we provide an overview of the use of the EHR for genomics research with a focus on heritable lipid disorders.

Recent Findings: Linking the EHR to genomic data enables repurposing of vast phenotype data for genomic discovery.

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