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1. Paramagnetic singularities of the orbital magnetism in graphene with a moir\'e potential

Author

Bustamante, J. Vallejo, Ribeiro-Palau, R., Fermon, C., Watanabe, M. Pannetier-Lecoeur K., Tanigushi, T., Deblock, R., Guéron, S., Ferrier, M., Fuchs, J. N., Montambaux, G., Piéchon, F., and Bouchiat, H.

Subjects
Condensed Matter - Mesoscale and Nanoscale Physics
Abstract

The recent detection of the singular diamagnetism of Dirac electrons in a single graphene layer paved a new way of probing 2D quantum materials through the measurement of equilibrium orbital currents which cannot be accessed in usual transport experiments. Among the theoretical predictions is an intriguing orbital paramagnetism at saddle points of the dispersion relation. Here we present magnetisation measurements in graphene monolayers aligned on hexagonal boron nitride (hBN)crystals. Beside the sharp diamagnetic McClure response at the Dirac point, we detect extra diamagnetic singularities at the satellite Dirac points (sDP) of the moir\'e lattice. Surrounding these diamagnetic satellite peaks, we also observe paramagnetic peaks located at the chemical potential of the saddle points of the Graphene moir\'e band structure and relate them to the presence of van Hove logarithmic singularities in the density of states. These findings reveal the long ago predicted anomalous paramagnetic orbital response in 2D systems when the Fermi energy is tuned to the vicinity of saddle points., Comment: main paper 6 pages 5 figures and supplementaray materials 18 pages and 14 figures

Published
2023

2. Impact of the COVID-19 pandemic on psychotropic prescribing: a systematic review

Author

Nikolaos Mastellos, Marie line El Asmar, Kanika I Dharmayat, Antonio J Vallejo-Vaz, Ryan Irwin, and Swettha Mahesarajah

Subjects
Medicine
Abstract

Objectives The global prevalence of mental health disorders has risen significantly since the beginning of the COVID-19 pandemic. The pandemic has additionally caused disruption to mental health services, leading to a shift from in-person to remote service delivery. Given its long-term impact, it has become critical to evaluate whether changes in health delivery during the pandemic have had an effect on prescribing patterns for commonly prescribed psychotropic drugs. This study aims to assess the impact of the COVID-19 pandemic on changes in psychotropic prescribing patterns in adults, as well as differences in prescribing in different healthcare delivery approaches across various geographical contexts.Design and eligibility requirements Systematic review of cohort, interrupted time-series and cross-sectional studies examining prescribing trends for at least one commonly prescribed psychotropic drug during and after COVID-19 in accessing care remotely or face to face between 1 January 2020 and 17 June 2022.Data sources MEDLINE, EMBASE, CINAHL, HMIC and PsycINFO databases were searched in addition to citation chaining of relevant reviews.Extraction and analysis Study screening, data extraction and quality assessment were completed by two independent reviewers. The PECO strategy was used to devise the systematic review and findings were synthesised narratively.Results 16 studies were eligible for inclusion. Studies documenting changes in psychotropic prescribing trends provided very conflicting findings. There were no stark differences in prescribing outcomes between different healthcare delivery methods (ie, face-to-face consultations vs remote consultations). A noteworthy finding was that the prescribing rate of benzodiazepines was higher in women than men. No particular trends were observed for the prescription rates of hypnotics, antidepressants or antipsychotics.Conclusions Findings support mixed trends in the prescription of psychotropic medications in a range of settings, hindering conclusive statements on COVID-19’s impact on prescribing. In areas where remote consultations are in use, more comprehensive research is required to assess the safety of prescribing in these settings to inform public health policy and assess if the observed trends in our systematic review persist over time (given the increased consideration of remote and telehealth care in delivering services), particularly the safe and effective deployment of these services.

Published
2024
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3. Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Author

Christophe A. T. Stevens, Antonio J. Vallejo‐Vaz, Joana R. Chora, Fotis Barkas, Julia Brandts, Alireza Mahani, Leila Abar, Mansour T. A. Sharabiani, and Kausik K. Ray

Subjects
cardiovascular disease prevention, familial hypercholesterolemia, genetic, machine learning, screening, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Background Familial hypercholesterolemia (FH), while highly prevalent, is a significantly underdiagnosed monogenic disorder. Improved detection could reduce the large number of cardiovascular events attributable to poor case finding. We aimed to assess whether machine learning algorithms outperform clinical diagnostic criteria (signs, history, and biomarkers) and the recommended screening criteria in the United Kingdom in identifying individuals with FH‐causing variants, presenting a scalable screening criteria for general populations. Methods and Results Analysis included UK Biobank participants with whole exome sequencing, classifying them as having FH when (likely) pathogenic variants were detected in their LDLR, APOB, or PCSK9 genes. Data were stratified into 3 data sets for (1) feature importance analysis; (2) deriving state‐of‐the‐art statistical and machine learning models; (3) evaluating models' predictive performance against clinical diagnostic and screening criteria: Dutch Lipid Clinic Network, Simon Broome, Make Early Diagnosis to Prevent Early Death, and Familial Case Ascertainment Tool. One thousand and three of 454 710 participants were classified as having FH. A Stacking Ensemble model yielded the best predictive performance (sensitivity, 74.93%; precision, 0.61%; accuracy, 72.80%, area under the receiver operating characteristic curve, 79.12%) and outperformed clinical diagnostic criteria and the recommended screening criteria in identifying FH variant carriers within the validation data set (figures for Familial Case Ascertainment Tool, the best baseline model, were 69.55%, 0.44%, 65.43%, and 71.12%, respectively). Our model decreased the number needed to screen compared with the Familial Case Ascertainment Tool (164 versus 227). Conclusions Our machine learning–derived model provides a higher pretest probability of identifying individuals with a molecular diagnosis of FH compared with current approaches. This provides a promising, cost‐effective scalable tool for implementation into electronic health records to prioritize potential FH cases for genetic confirmation.

Published
2024
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4. Saliva as a Potential Source of Biomarkers in Cows with Metritis: A Pilot Study

Author

Pedro J. Vallejo-Mateo, María D. Contreras-Aguilar, Alberto Muñoz-Prieto, María Botia, Asta Tvarijonaviciute, Camila Peres Rubio, Rasa Zelvyte, José J. Cerón, and Lorena Franco-Martínez

Subjects
biomarkers, dairy cattle, metritis, oral fluid, saliva, sialochemistry, Veterinary medicine, SF600-1100
Abstract

Metritis affects 5–20% of cows after parturition, negatively impacting animal welfare and the profitability of dairy farms, increasing culling rates and costs, and decreasing productivity and reproduction rates. This study compared the results of a comprehensive biochemical panel consisting of 25 salivary and 31 serum analytes between healthy cows (n = 16) and cows with metritis (n = 12). Descriptive parameters such as depression, rectal temperature, body condition score (BCS), heart rate, respiratory rate, mucous color, ruminal motility, vaginal discharge, milk production, and complete hematology analyses were also assessed for comparative purposes. The biochemistry analytes comprised five analytes related to stress, five to inflammation, five to oxidative status, and nineteen to general metabolism. The two-way ANOVA analysis revealed that, in saliva, eight biomarkers (lipase, adenosine deaminase (ADA), haptoglobin (Hp), total proteins, g-glutamyl transferase (gGT), aspartate aminotransferase (AST), alkaline phosphatase (ALP), and creatine kinase (CK)) were significant higher in cows with metritis. In serum, eight biomarkers (ADA, Hp, serum amyloid A (SAA), fibrinogen, ferritin, AOPPs/albumin ratio, non-esterified fatty acids (NEFAs), and bilirubin) were significantly higher in cows with metritis, whereas six (total esterase (TEA), albumin, urea, lactate, phosphorus, and calcium) were lower. Of the total number of 23 biomarkers that were measured in both saliva and serum, significant positive correlations between the two biofluids were found for six of them (Hp, FRAP, CUPRAC, AOPPs, urea, and phosphorus). Urea showed an R = 0.7, and the correlations of the other analytes were weak (R < 0.4). In conclusion, cows with metritis exhibited differences in biomarkers of stress, inflammation, cellular immune system, and general metabolism in both salivary and serum biochemistry profiles. These changes were of different magnitudes in the two biofluids. In addition, with the exception of ADA and Hp, the analytes that showed changes in the saliva and serum profiles of cows affected by metritis were different. Overall, this report opens a new window for the use of saliva as potential source of biomarkers in cows with metritis.

Published
2024
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5. Overview of a collaborative global effort to address the burden of familial hypercholesterolaemia

Author

Alexander R.M. Lyons, Christophe A.T. Stevens, Kanika I. Dharmayat, Dr Antonio J. Vallejo-Vaz, and Kausik K. Ray

Subjects
Familial hypercholesterolaemia, Hypercholesterolaemia, Dyslipidaemias, Atherosclerosis, Registry, LDL-Cholesterol, Surgery, RD1-811, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

This is an overview of the EAS Familial Hypercholesterolaemia (FH) Studies Collaboration (FHSC) global consortium and registry (established 2015), which broadly addresses the global burden of FH. Eighty-seven National Lead Investigators from 74 countries form this expanding global consortium, and this global registry currently includes pooled data on 70,000 participants from participating countries to facilitate FH surveillance. Published first results from this global registry concluded that FH is diagnosed late, and management of LDL-cholesterol falls below guideline recommendations, and therefore earlier detection of FH and wider use of combination therapy is required. Further FHSC studies will follow on updated data including new countries, participants and variables, and non-DNA genetic information, and on the remaining cohorts in the registry. FHSC cross-sectional collaborative global studies are expected to promote FH detection earlier in life to subsequently initiate early lipid lowering therapy to reduce lifelong exposure to cumulative LDL-cholesterol thus reducing cardiovascular disease risk.

Published
2024
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6. Fungal microbiota in newborn infants with and without respiratory distress syndrome.

Author

Vicente Friaza, Pilar Rojas, Carmen de la Horra, Elisa García, Rubén Morilla, Antonio Pavón, Yaxsier de Armas, Antonio J Vallejo-Vaz, Rocío Salsoso, Francisco J Medrano, and Enrique J Calderón

Subjects
Medicine, Science
Abstract

BackgroundPneumocytis jirovecii infection in preterm newborns has recently been associated with neonatal respiratory distress syndrome and bronchopulmonary dysplasia. Changes in the bacterial microbiota of the airways have also been described in infants with bronchopulmonary dysplasia. However, until now there has been no information on the airway mycobiota in newborns. The purpose of this study was to describe the airway mycobiota in term and preterm newborns and its possible association with respiratory distress syndrome.MethodsTwenty-six matched preterm newborns with and without respiratory distress syndrome were studied, as well as 13 term babies. The identification of the fungal microbiota was carried out using molecular procedures in aspirated nasal samples at birth.ResultsThe ascomycota phylum was identified in 89.7% of newborns, while the basidiomycota phylum was found in 33.3%. Cladosporium was the predominant genus in both term and preterm infants 38.4% vs. 73% without statistical differences. Candida sake and Pneumocystis jirovecii were only found in preterm infants, suggesting a potential relationship with the risk of prematurity.ConclusionsThis is the first report to describe the fungal microbiota of the airways in term and preterm infants with and without respiratory distress syndrome. Although no differences have been observed, the number of cases analyzed could be small to obtain conclusive results, and more studies are needed to understand the role of the fungal microbiota of the airways in neonatal respiratory pathology.

Published
2024
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8. Premature morbidity and mortality associated with potentially undiagnosed familial hypercholesterolemia in the general population

Author

Kausik K. Ray, Demetris Pillas, Savvas Hadjiphilippou, Kamlesh Khunti, Sreenivasa Rao Kondapally Seshasai, Antonio J. Vallejo-Vaz, David Neasham, and Janet Addison

Subjects
Familial hypercholesterolemia, Cardiovascular disease prevention, LDL-C, Screening, Diseases of the circulatory (Cardiovascular) system, RC666-701, Public aspects of medicine, RA1-1270
Abstract

Background: Familial hypercholesterolemia (FH) is common, but underdiagnosed, and few systematic early screening programs exist. Objective: To assess health outcomes among those with a recorded diagnosis of FH and potential cases of FH with no recorded diagnosis. Methods: Retrospective cohort study using the UK Clinical Practice Research Datalink. Records of adults were classified as diagnosed FH (FHCoded), or via accepted algorithms using LDL-C and clinical characteristics as potential FH (FHPotential) or unlikely FH (FHUnlikely) using the DLCN or EUROASPIRE criteria (but no record of FH). Outcomes assessed were premature cardiovascular (CV) events, premature deaths and life expectancy. Results: Among 1,729,046 individuals free from CV events, a record of FHCoded before the age of 40 was 0.3/1000 (IQR 0.3–0.4) and increased with age. Where LDL-C levels were available, 1.8/1000 (IQR 1.6–2.0) could be classified as FHPotential. LDL-C was higher for both FHCoded and FHPotential vs FHUnlikely (185.6 and 216.6 vs 116 mg/dL, respectively, p

Published
2023
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9. Impact of the first wave of the COVID-19 pandemic on non-COVID inpatient care in southern Spain

Author

Antonia Gasch-Illescas, Marta Calle-Serrano, Antonio J. Vallejo-Vaz, Juan M. Praena-Fernández, Jose A. Guerrero, Enrique J. Calderón, Marina Pollán, and Francisco J. Medrano

Subjects
Medicine, Science
Abstract

Abstract We assessed the impact of the first wave of COVID-19 pandemic on non-COVID hospital admissions, non-COVID mortality, factors associated with non-COVID mortality, and changes in the profile of non-COVID patients admitted to hospital. We used the Spanish Minimum Basic Data Set with diagnosis grouped according to the Diagnostic Related Groups. A total of 10,594 patients (3% COVID-19; 97% non-COVID) hospitalised during the first wave in 2020 (27-February/07-June) were compared with those hospitalised within the same dates of 2017–2019 (average annual admissions: 14,037). We found a decrease in non-COVID medical (22%) and surgical (33%) hospitalisations and a 25.7% increase in hospital mortality among non-COVID patients during the first pandemic wave compared to pre-pandemic years. During the officially declared sub-period of excess mortality in the area (17-March/20-April, in-hospital non-COVID mortality was even higher (58.7% higher than the pre-pandemic years). Non-COVID patients hospitalised during the first pandemic wave (compared to pre-pandemic years) were older, more frequently men, with longer hospital stay and increased disease severity. Hospitalisation during the first pandemic wave in 2020, compared to hospitalisation during the pre-pandemic years, was an independent risk factor for non-COVID mortality (HR 1.30, 95% CI 1.07–1.57, p = 0.008), reflecting the negative impact of the pandemic on hospitalised patients.

Published
2023
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10. Optimal implementation of the 2019 ESC/EAS dyslipidaemia guidelines in patients with and without atherosclerotic cardiovascular disease across Europe: a simulation based on the DA VINCI studyResearch in context

Author

Julia Brandts, Sarah Bray, Guillermo Villa, Alberico L. Catapano, Neil R. Poulter, Antonio J. Vallejo-Vaz, and Kausik K. Ray

Subjects
Atherosclerotic cardiovascular disease, LDL-C, Lipid-lowering, ESC/EAS guidelines, Cardiovascular risk, Public aspects of medicine, RA1-1270
Abstract

Summary: Background: The impact of the stepwise implementation of the 2019 European Society of Cardiology (ESC)/European Atherosclerosis Society (EAS) treatment algorithm on low-density lipoprotein cholesterol (LDL-C) goal attainment was simulated in patients from the DA VINCI study. Methods: Monte Carlo simulation was used to evaluate treatment optimisation scenarios, based on a patient's risk category: statin intensification (step 1), addition of ezetimibe (step 2), and addition of a proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor (step 3). Residual cardiovascular risk and predicted relative and absolute risk reduction (RRR and ARR) in cardiovascular events were assessed. Findings: In DA VINCI, 2482 patients did not achieve their 2019 ESC/EAS LDL-C goals and were included in the simulation. In patients without atherosclerotic cardiovascular disease (ASCVD) (n = 962), 27.0% (n = 259) and 57.0% (n = 548) are likely to achieve their LDL-C goals at step 1 and step 2, respectively. Of those at very high risk without ASCVD (n = 74), 88.1% (n = 65) are likely to achieve their LDL-C goals at step 3. In patients with ASCVD (n = 1520), 12.0% (n = 183), 42.1% (n = 641) and 93.2% (n = 1416) are likely to achieve their LDL-C goals at steps 1, 2 and 3, respectively. In patients with and without ASCVD, treatment optimisation may result in mean simulated RRR of 24.0% and 17.7%, respectively, and ARR of 8.1% and 2.6%, respectively. Interpretation: Most patients at high cardiovascular risk are unlikely to achieve LDL-C goals through statin optimisation and ezetimibe, and will require a PCSK9 inhibitor, leading to greater reduction in cardiovascular risk. Funding: Amgen.

Published
2023
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12. Changes in salivary analytes in cows due to the in vitro presence of feed

Author

M. D. Contreras-Aguilar, P. J. Vallejo-Mateo, E. Lamy, J. J. Cerón, and C. P. Rubio

Subjects
Biomarkers, Cow, Feed contamination, Saliva, Sialochemistry, Veterinary medicine, SF600-1100
Abstract

Abstract Background The effect in a sialochemistry profile of the presence of usually available feed in dairy cows was evaluated by an in vitro experiment. For this purpose, a pooled clean saliva from five healthy dairy cows was incubated five times with a standard feed based on a total mixed ration (F), wheat hay (H), and grass (G). The salivary panel was integrated by biomarkers of stress (cortisol -sCor-, salivary alpha-amylase -sAA-, butyrylcholinesterase -BChE-, total esterase -TEA-, and lipase -Lip-), immunity (adenosine deaminase -ADA-), oxidative status (Trolox equivalent antioxidant capacity -TEAC-, the ferric reducing ability of saliva -FRAS-, the cupric reducing antioxidant capacity -CUPRAC-, uric acid, and advanced oxidation protein products -AOPP-), and enzymes, proteins, and minerals of general metabolism and markers of liver, muscle, and renal damage (aspartate aminotransferase -AST-, alanine aminotransferase -ALP-, γ-glutamyl transferase -gGT-, lactate dehydrogenase -LDH-, creatine kinase -CK-, creatinine, urea, triglycerides, glucose, lactate, total protein, phosphorus, and total calcium). Results Most of the evaluated analytes showed a coefficient of variations (CV) higher than 15% and/or significant changes compared with the clean saliva when feed was present. Some analytes, such as the oxidative status biomarkers (CV > 80%), AST (CV > 60%), or glucose (CV > 100%), showed significant changes with all the feed types tested. Others showed significant differences only with certain types of feed, such as LDH with F (CV > 60%) or triglycerides with F (CV > 100%) and H (CV > 95%). However, sCor or gGT remained unchanged (CV 0.05) in all the treatments. Conclusions The presence of feed can produce changes in most of the analytes measured in cows’ saliva, being of high importance to consider this factor when saliva is used as a sample to avoid errors in the interpretation of the results.

Published
2022
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13. Ensemble machine learning methods in screening electronic health records: A scoping review

Author

Christophe AT Stevens, Alexander RM Lyons, Kanika I Dharmayat, Alireza Mahani, Kausik K Ray, Antonio J Vallejo-Vaz, and Mansour TA Sharabiani

Subjects
Computer applications to medicine. Medical informatics, R858-859.7
Abstract

Background Electronic health records provide the opportunity to identify undiagnosed individuals likely to have a given disease using machine learning techniques, and who could then benefit from more medical screening and case finding, reducing the number needed to screen with convenience and healthcare cost savings. Ensemble machine learning models combining multiple prediction estimates into one are often said to provide better predictive performances than non-ensemble models. Yet, to our knowledge, no literature review summarises the use and performances of different types of ensemble machine learning models in the context of medical pre-screening. Method We aimed to conduct a scoping review of the literature reporting the derivation of ensemble machine learning models for screening of electronic health records. We searched EMBASE and MEDLINE databases across all years applying a formal search strategy using terms related to medical screening, electronic health records and machine learning. Data were collected, analysed, and reported in accordance with the PRISMA scoping review guideline. Results A total of 3355 articles were retrieved, of which 145 articles met our inclusion criteria and were included in this study. Ensemble machine learning models were increasingly employed across several medical specialties and often outperformed non-ensemble approaches. Ensemble machine learning models with complex combination strategies and heterogeneous classifiers often outperformed other types of ensemble machine learning models but were also less used. Ensemble machine learning models methodologies, processing steps and data sources were often not clearly described. Conclusions Our work highlights the importance of deriving and comparing the performances of different types of ensemble machine learning models when screening electronic health records and underscores the need for more comprehensive reporting of machine learning methodologies employed in clinical research.

Published
2023
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14. Acute stroke in COVID-19 patients: A first year experience in a Colombian hospital

Author

N. Cerón Blanco, C.A. Romero Hernández, and J. Vallejo Fernández

Subjects
Stroke, SARS-CoV-2, COVID-19, TIA, brain infarct, Neurology. Diseases of the nervous system, RC346-429
Abstract

Background: COVID-19 may be a new risk factor for stroke. Stroke in COVID-19 varies from 1.1 to 8.1%. Various pathophysiological pathways predispose SARS-CoV-2 infected patients to stroke. Aim: To describe COVID-19 patients with acute stroke in one Colombian Center. Methods: From March 6 2020 and March 6 2021 records of patients with acute stroke and in-hospital positive PCR (Polymerase Chain Reaction) test for Sars-CoV-2 infection were reviewed. Demographic, stroke and COVID-19 characteristics were extracted. Continuous variables were reported in means and ranges. Categorical variables were presented in frequencies and percentage. A descriptive narrative was performed. Results: Of 328 acute stroke patients 14 (4.2%) tested positive for PCR SARS-CoV-2. Mean age 56.4 years with 57% males. Five were (35.7%) without vascular risk factors but 9 (64.3%) overweight. Brain infarct diagnosed in 11 (78.5%), 53% with anterior circulation syndromes. Mean NIHSS score 11.8 and 7 (63%) received intravenous thrombolysis. Acute inflammatory blood biomarkers (D-dimer, ferritin, LDH elevated) were positive in all. 11 (78.5%) had symptomatic COVID-19 before stroke with a mean latency of 7 days. 12 (85.7%) had severe COVID-19 and 6 (42.8%) required mechanical ventilation. Outcome was unfavorable in 9 (64.3%) (The Modified Rankin Scale (mRS) >2), mean hospital stay was 21.8 days and in-hospital case fatality rate was 14.2%. Conclusion: In susceptible individuals COVID-19 predisposes to stroke. Hypercoagulation and immune thrombosis may be at the culprit for this state. In Colombia, COVID-19 patients with stroke have similar characteristics to the described worldwide.

Published
2023
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16. Cerebrovascular Disease and Statins

Author

Luis M. Beltrán Romero, Antonio J. Vallejo-Vaz, and Ovidio Muñiz Grijalvo

Subjects
atherosclerosis, cerebrovascular disease, LDL-cholesterol, statins, stroke, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Elevated low-density lipoprotein-cholesterol (LDL-C) is a causal factor for the development of atherosclerotic cardiovascular disease (ASCVD); accordingly, LDL-C lowering is associated with a decreased risk of progression of atherosclerotic plaques and development of complications. Currently, statins play a central role in any ASCVD management and prevention strategies, in relation to their lipid-lowering action and potentially to pleiotropic effects. After coronary artery disease, stroke is the most frequent cause of ASCVD mortality and the leading cause of acquired disability, a major public health problem. There is often a tendency to aggregate all types of stroke (atherothrombotic, cardioembolic, and haemorrhagic), which have, however, different causes and pathophysiology, what may lead to bias when interpreting the results of the studies. Survivors of a first atherothrombotic ischemic stroke are at high risk for coronary events, recurrent stroke, and vascular death. Although epidemiological studies show a weak relationship between cholesterol levels and cerebrovascular disease as a whole compared with other ASCVD types, statin intervention studies have demonstrated a decrease in the risk of stroke in patients with atherosclerosis of other territories and a decrease in all cardiovascular events in patients who have had a stroke. The Stroke Prevention by Aggressive Reduction in Cholesterol Levels (SPARCL) trial demonstrated the benefit of high doses of atorvastatin in the secondary prevention of ischemic stroke. In this review, we discuss the evidence, use and recommendations of statins in the primary and secondary prevention of stroke, and their role in other scenarios such as the acute phase of ischemic stroke, cerebral hemorrhage, cardioembolic stroke, small vessel disease, and cognitive impairment.

Published
2021
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17. FindMyLipidClinic.com: A global Directory of lipid clinics and patient organisations to improve dyslipidemia care: FindMyLipidClinic.com

Author

Christophe A.T. Stevens, Alexander R.M. Lyons, Kanika I. Dharmayat, Julia Brandts, Antonio J. Vallejo-Vaz, Magdalena Daccord, and Kausik K. Ray

Abstract

Information available on lipid clinics and patient support and advocacy groups, such as location and services provided, is limited or unknown to patients with dyslipidaemia and their family members who may also be affected, and non-specialist clinicians, hindering accessibility to appropriate healthcare. To overcome this, the European Atherosclerosis Society Familial Hypercholesterolemia Study Collaboration (EAS FHSC) led by Imperial College London has, in collaboration with the European FH Patient Network (FH Europe), developed FindMyLipidClinic.com, a global Directory of lipid clinics and patient support groups in 29 languages. Since its launch in 2020, around 4,000 visitors have conducted 12,000 searches across 1,100 locations, which may have retrieved up to 124 lipid clinics and 29 patient groups currently listed in 39 and 28 countries, respectively. Clinics and patient organisations not currently listed are encouraged to join this directory, and it would also benefit further from collaborations with other existing directories able to contribute.

Published
2022

18. Changes in Saliva Analytes in Dairy Cows during Peripartum: A Pilot Study

Author

María D. Contreras-Aguilar, Pedro J. Vallejo-Mateo, Elsa Lamy, Damián Escribano, Jose J. Cerón, Fernando Tecles, and Camila P. Rubio

Subjects
biomarkers, dairy cattle, peripartum, saliva, sialochemistry, Veterinary medicine, SF600-1100, Zoology, QL1-991
Abstract

This pilot study aimed to study the possible changes in a profile of 26 salivary analytes in thirteen healthy dairy cows along their peripartum period. Analytes associated with the stress (salivary cortisol, salivary alpha-amylase, butyrylcholinesterase, and total esterase), inflammation (adenosine deaminase), oxidative status (total antioxidant capacity and the advanced oxidation protein products), and general metabolism (creatine kinase, γ-glutamyl transferase, urea, triglycerides, glucose, and lactate) varied along the sampling times. A positive correlation between the white blood cells counts, and the lipase, Trolox equivalent antioxidant capacity, advanced oxidation protein products, and lactate levels in saliva were observed at the delivery. A linear association between selected salivary analytes at different sampling times and the milk yield after calving was observed. In conclusion, in our experimental conditions, it was observed that the peripartum period in dairy cows can induce changes in salivary analytes. Some of them were associated with inflammatory status and the capacity of milk production after calving.

Published
2021
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19. Worldwide experience of homozygous familial hypercholesterolaemia:retrospective cohort study

Author

Tycho R Tromp, Merel L Hartgers, G Kees Hovingh, Antonio J Vallejo-Vaz, Kausik K Ray, Handrean Soran, Tomas Freiberger, Stefano Bertolini, Mariko Harada-Shiba, Dirk J Blom, Frederick J Raal, Marina Cuchel, Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh, Antonio J. Vallejo-Vaz, Kausik K. Ray, Stefano A. Bertolini, Jing Pang, Gerald F. Watts, Susanne Greber-Platzer, Martin Mäser, Thomas M. Stulnig, Christoph F. Ebenbichler, Khalid Bin Thani, David Cassiman, Olivier S. Descamps, Daisy Rymen, Peter Witters, Raul D. Santos, Liam R. Brunham, Gordon A. Francis, Jacques Genest, Robert A. Hegele, Brooke A. Kennedy, Isabelle Ruel, Mark H. Sherman, Long Jiang, Luya Wang, Željko Reiner, Vladimir Blaha, Richard Ceska, Jana Dvorakova, Lubomir Dlouhy, Pavel Horak, Vladimir Soska, Lukas Tichy, Robin Urbanek, Helena Vaverkova, Michal Vrablik, Stanislav Zemek, Lukas Zlatohlavek, Sameh Emil, Tarek Naguib, Ashraf Reda, Sophie Béliard, Eric Bruckert, Antonio Gallo, Moses S. Elisaf, Genovefa Kolovou, Hofit Cohen, Ronen Durst, Eldad J. Dann, Avishay Elis, Osama Hussein, Eran Leitersdorf, Daniel Schurr, Nitika Setia, Ishwar C. Verma, Mohammed D. Alareedh, Mutaz Al-Khnifsawi, Ali F. Abdalsahib Al-Zamili, Sabah H. Rhadi, Foaad K. Shaghee, Marcello Arca, Maurizio Averna, Andrea Bartuli, Marco Bucci, Paola S. Buonuomo, Paolo Calabrò, Sebastiano Calandra, Manuela Casula, Alberico L. Catapano, Angelo B. Cefalù, Arrigo F.G. Cicero, Sergio D'Addato, Laura D'Erasmo, Alessia Di Costanzo, Tommaso Fasano, Marta Gazzotti, Antonina Giammanco, Gabriella Iannuzzo, Anastasia Ibba, Emanuele A. Negri, Andrea Pasta, Chiara Pavanello, Livia Pisciotta, Claudio Rabacchi, Carlo Ripoli, Tiziana Sampietro, Francesco Sbrana, Fulvio Sileo, Patrizia Suppressa, Patrizia Tarugi, Chiara Trenti, Maria G. Zenti, Mika Hori, Mahmoud H. Ayesh, Sami T. Azar, Fadi F. Bitar, Akl C. Fahed, Elie M. Moubarak, Georges Nemer, Hapizah M. Nawawi, Ramón Madriz, Roopa Mehta, Arjen J. Cupido, Joep C. Defesche, M. Doortje Reijman, Jeanine E. Roeters-van Lennep, Erik S.G. Stroes, Albert Wiegman, Linda Zuurbier, Khalid Al-Waili, Fouzia Sadiq, Krzysztof Chlebus, Mafalda Bourbon, Isabel M. Gaspar, Katarina S. Lalic, Marat V. Ezhov, Andrey V. Susekov, Urh Groselj, Min-Ji Charng, Weerapan Khovidhunkit, Melih Aktan, Bulent B. Altunkeser, Sinan Demircioglu, Melis Kose, Cumali Gokce, Osman Ilhan, Meral Kayikcioglu, Leyla G. Kaynar, Irfan Kuku, Erdal Kurtoglu, Harika Okutan, Osman I. Ozcebe, Zafer Pekkolay, Saim Sag, Osman Z. Salcioglu, Ahmet Temizhan, Mustafa Yenercag, Mehmet Yilmaz, Hamiyet Yilmaz Yasar, Olena Mitchenko, Alexander R.M. Lyons, Christophe A.T. Stevens, Julie A. Brothers, Lisa C. Hudgins, Christina Nguyen, Rano Alieva, Aleksandr Shek, Doan-Loi Do, Ngoc-Thanh Kim, Hong-An Le, Thanh-Tung Le, Mai-Ngoc T. Nguyen, Thanh-Huong Truong, Dirk J. Blom, Frederick J. Raal, VU University medical center, Tromp T.R., Hartgers M.L., Hovingh G.K., Vallejo-Vaz A.J., Ray K.K., Soran H., Freiberger T., Bertolini S., Harada-Shiba M., Blom D.J., Raal F.J., Cuchel M., Bertolini S.A., Pang J., Watts G.F., Greber-Platzer S., Maser M., Stulnig T.M., Ebenbichler C.F., Bin Thani K., Cassiman D., Descamps O.S., Rymen D., Witters P., Santos R.D., Brunham L.R., Francis G.A., Genest J., Hegele R.A., Kennedy B.A., Ruel I., Sherman M.H., Jiang L., Wang L., Reiner Z., Blaha V., Ceska R., Dvorakova J., Dlouhy L., Horak P., Soska V., Tichy L., Urbanek R., Vaverkova H., Vrablik M., Zemek S., Zlatohlavek L., Emil S., Naguib T., Reda A., Beliard S., Bruckert E., Gallo A., Elisaf M.S., Kolovou G., Cohen H., Durst R., Dann E.J., Elis A., Hussein O., Leitersdorf E., Schurr D., Setia N., Verma I.C., Alareedh M.D., Al-Khnifsawi M., Abdalsahib Al-Zamili A.F., Rhadi S.H., Shaghee F.K., Arca M., Averna M., Bartuli A., Bucci M., Buonuomo P.S., Calabro P., Calandra S., Casula M., Catapano A.L., Cefalu A.B., Cicero A.F.G., D'Addato S., D'Erasmo L., Di Costanzo A., Fasano T., Gazzotti M., Giammanco A., Iannuzzo G., Ibba A., Negri E.A., Pasta A., Pavanello C., Pisciotta L., Rabacchi C., Ripoli C., Sampietro T., Sbrana F., Sileo F., Suppressa P., Tarugi P., Trenti C., Zenti M.G., Hori M., Ayesh M.H., Azar S.T., Bitar F.F., Fahed A.C., Moubarak E.M., Nemer G., Nawawi H.M., Madriz R., Mehta R., Cupido A.J., Defesche J.C., Reijman M.D., Roeters-van Lennep J.E., Stroes E.S.G., Wiegman A., Zuurbier L., Al-Waili K., Sadiq F., Chlebus K., Bourbon M., Gaspar I.M., Lalic K.S., Ezhov M.V., Susekov A.V., Groselj U., Charng M.-J., Khovidhunkit W., Aktan M., Altunkeser B.B., Demircioglu S., Kose M., Gokce C., Ilhan O., Kayikcioglu M., Kaynar L.G., Kuku I., Kurtoglu E., Okutan H., Ozcebe O.I., Pekkolay Z., Sag S., Salcioglu O.Z., Temizhan A., Yenercag M., Yilmaz M., Yilmaz Yasar H., Mitchenko O., Lyons A.R.M., Stevens C.A.T., Brothers J.A., Hudgins L.C., Nguyen C., Alieva R., Shek A., Do D.-L., Kim N.-T., Le H.-A., Le T.-T., Nguyen M.-N.T., Truong T.-H., University of Amsterdam, University of Pennsylvania, European Atherosclerosis Society, Experimental Vascular Medicine, Graduate School, Vascular Medicine, ACS - Atherosclerosis & ischemic syndromes, Human Genetics, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Heart failure & arrhythmias, R Tromp, Tycho, L Hartgers, Merel, Kees Hovingh, G, J Vallejo-Vaz, Antonio, K Ray, Kausik, Soran, Handrean, Freiberger, Toma, A Bertolini, Stefano, Harada-Shiba, Mariko, Pang, Jing, F Watts, Gerald, Greber-Platzer, Susanne, Mäser, Martin, M Stulnig, Thoma, F Ebenbichler, Christoph, Bin Thani, Khalid, Cassiman, David, S Descamps, Olivier, Rymen, Daisy, Witters, Peter, D Santos, Raul, R Brunham, Liam, A Francis, Gordon, Genest, Jacque, A Hegele, Robert, A Kennedy, Brooke, Ruel, Isabelle, H Sherman, Mark, Jiang, Long, Wang, Luya, Reiner, Željko, Blaha, Vladimir, Ceska, Richard, Dvorakova, Jana, Dlouhy, Lubomir, Horak, Pavel, Soska, Vladimir, Tichy, Luka, Urbanek, Robin, Vaverkova, Helena, Vrablik, Michal, Zemek, Stanislav, Zlatohlavek, Luka, Emil, Sameh, Naguib, Tarek, Reda, Ashraf, Béliard, Sophie, Bruckert, Eric, Gallo, Antonio, S Elisaf, Mose, Kolovou, Genovefa, Cohen, Hofit, Durst, Ronen, J Dann, Eldad, Elis, Avishay, Hussein, Osama, Leitersdorf, Eran, Schurr, Daniel, Setia, Nitika, C Verma, Ishwar, D Alareedh, Mohammed, Al-Khnifsawi, Mutaz, F Abdalsahib Al-Zamili, Ali, H Rhadi, Sabah, K Shaghee, Foaad, Arca, Marcello, Averna, Maurizio, Bartuli, Andrea, Bucci, Marco, S Buonuomo, Paola, Calabrò, Paolo, Calandra, Sebastiano, Casula, Manuela, L Catapano, Alberico, B Cefalù, Angelo, G Cicero, Arrigo F, D'Addato, Sergio, D'Erasmo, Laura, Di Costanzo, Alessia, Fasano, Tommaso, Gazzotti, Marta, Giammanco, Antonina, Iannuzzo, Gabriella, Ibba, Anastasia, A Negri, Emanuele, Pasta, Andrea, Pavanello, Chiara, Pisciotta, Livia, Rabacchi, Claudio, Ripoli, Carlo, Sampietro, Tiziana, Sbrana, Francesco, Sileo, Fulvio, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, G Zenti, Maria, Hori, Mika, H Ayesh, Mahmoud, T Azar, Sami, F Bitar, Fadi, C Fahed, Akl, M Moubarak, Elie, Nemer, George, M Nawawi, Hapizah, Madriz, Ramón, Mehta, Roopa, J Cupido, Arjen, C Defesche, Joep, Doortje Reijman, M, E Roeters-van Lennep, Jeanine, G Stroes, Erik S, Wiegman, Albert, Zuurbier, Linda, Al-Waili, Khalid, Sadiq, Fouzia, Chlebus, Krzysztof, Bourbon, Mafalda, M Gaspar, Isabel, S Lalic, Katarina, V Ezhov, Marat, V Susekov, Andrey, Groselj, Urh, Charng, Min-Ji, Khovidhunkit, Weerapan, Aktan, Melih, B Altunkeser, Bulent, Demircioglu, Sinan, Kose, Meli, Gokce, Cumali, Ilhan, Osman, Kayikcioglu, Meral, G Kaynar, Leyla, Kuku, Irfan, Kurtoglu, Erdal, Okutan, Harika, I Ozcebe, Osman, Pekkolay, Zafer, Sag, Saim, Z Salcioglu, Osman, Temizhan, Ahmet, Yenercag, Mustafa, Yilmaz, Mehmet, Yilmaz Yasar, Hamiyet, Mitchenko, Olena, M Lyons, Alexander R, T Stevens, Christophe A, A Brothers, Julie, C Hudgins, Lisa, Nguyen, Christina, Alieva, Rano, Shek, Aleksandr, Do, Doan-Loi, Kim, Ngoc-Thanh, Le, Hong-An, Le, Thanh-Tung, T Nguyen, Mai-Ngoc, Truong, Thanh-Huong, J Blom, Dirk, J Raal, Frederick, and Cuchel, Marina

Subjects
Adult, Male, Homozygous Familial Hypercholesterolemia, Adolescent, retrospective study, CHILDREN, Doenças Cardio e Cérebro-vasculares, Cohort Studies, Young Adult, Medicine, General & Internal, General & Internal Medicine, Cardiovascular Disease, Humans, Registries, LIPOPROTEIN-APHERESIS, Child, 11 Medical and Health Sciences, Retrospective Studies, Homozygous Familial Hypercholesterolaemia International Clinical Collaborators, Science & Technology, GUIDANCE, clinical characteristic, EVOLOCUMAB, Homozygous familial hypercholesterolemia, Worldwide, Therapies, Cardiovascular disease, General Medicine, CARE, OPEN-LABEL, EFFICACY, INSIGHTS, Child, Preschool, outcome, Female, genetic, Familial Hypercholesterolaemia, Life Sciences & Biomedicine
Abstract

[Background]: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally., [Methods]: The HoFH International Clinical Collaborators registry collected data on patients with a clinical, or genetic, or both, diagnosis of HoFH using a retrospective cohort study design. This trial is registered with ClinicalTrials.gov, NCT04815005., [Findings]: Overall, 751 patients from 38 countries were included, with 565 (75%) reporting biallelic pathogenic variants. The median age of diagnosis was 12∙0 years (IQR 5∙5–27∙0) years. Of the 751 patients, 389 (52%) were female and 362 (48%) were male. Race was reported for 527 patients; 338 (64%) patients were White, 121 (23%) were Asian, and 68 (13%) were Black or mixed race. The major manifestations of ASCVD or aortic stenosis were already present in 65 (9%) of patients at diagnosis of HoFH. Globally, pretreatment LDL cholesterol levels were 14∙7 mmol/L (IQR 11∙6–18∙4). Among patients with detailed therapeutic information, 491 (92%) of 534 received statins, 342 (64%) of 534 received ezetimibe, and 243 (39%) of 621 received lipoprotein apheresis. On-treatment LDL cholesterol levels were lower in high-income countries (3∙93 mmol/L, IQR 2∙6–5∙8) versus non-highincome countries (9∙3 mmol/L, 6∙7–12∙7), with greater use of three or more lipid-lowering therapies (LLT; highincome 66% vs non-high-income 24%) and consequently more patients attaining guideline-recommended LDL cholesterol goals (high-income 21% vs non-high-income 3%). A first major adverse cardiovascular event occurred a decade earlier in non-high-income countries, at a median age of 24∙5 years (IQR 17∙0–34∙5) versus 37∙0 years (29∙0–49∙0) in high-income countries (adjusted hazard ratio 1∙64, 95% CI 1∙13–2∙38)., [Interpretation]: Worldwide, patients with HoFH are diagnosed too late, undertreated, and at high premature ASCVD risk. Greater use of multi-LLT regimens is associated with lower LDL cholesterol levels and better outcomes. Significant global disparities exist in treatment regimens, control of LDL cholesterol levels, and cardiovascular event-free survival, which demands a critical re-evaluation of global health policy to reduce inequalities and improve outcomes for all patients with HoFH., Amsterdam University Medical Centers, Location Academic Medical Center; Perelman School of Medicine at the University of Pennsylvania; and European Atherosclerosis Society

Published
2022

21. Percutaneous tracheostomy in COVID patients. Experience in our hospital center after one year of pandemic and review of the literature

Author

M Morante-Silva, J Vallejo-Díez, L-M Redondo-Gonzalez, L-A Sánchez-Cuellar, B Peral-Cagigal, and C García-Sierra

Subjects
medicine.medical_specialty, Percutaneous, MEDLINE, Review, law.invention, Tracheostomy, law, Pandemic, medicine, Humans, extrafollicular aot, Pandemics, General Dentistry, UNESCO:CIENCIAS MÉDICAS, Retrospective Studies, Respiratory distress, indian population, SARS-CoV-2, business.industry, odontogenic tumor, General surgery, COVID-19, Apnea, adenomatoid odontogenic tumor (aot), Respiration, Artificial, Intensive care unit, Hospitals, follicular aot, Otorhinolaryngology, Surgery, Oral Surgery, medicine.symptom, Airway, business, Complication
Abstract

Background The pandemic caused by SARS-COV-2 has caused an increase in the need of tracheostomies in patients affected with respiratory distress syndrome. In this article we report our experience during a year of pandemic, we develop our surgical technique to perform percutaneous tracheostomy with the patient in apnea and we compare our results with those of other centers through a bibliographic review. Material and Methods A one-year retrospective clinical study was carried out on tracheotomies performed on patients admitted to the intensive care unit with severe SARS-CoV-2, with difficulty for ventilation or weaning. The technique performed was percutaneous, with fibroscopic control through the endotracheal tube, keeping the patient under apnea during the opening of the airway, reducing by this method the risk of exposure to the virus. Results From 35 percutaneous tracheotomies performed, 31% of the patients died from respiratory complications due to SARS-COV-2, but none due to the surgical procedure. The most frequent complication (8.5% of patients) was bleeding around the tracheostoma, resolved with local measures. No healthcare provider involved in the performance of the technique had symptoms or was diagnosed with COVID-19. Conclusions Our technique of performing percutaneous tracheostomy maintaining apnea during the procedure, under fibroscopic control, has proven to be safe for all those involved in the procedure, and for the patient. Key words:Percutaneous tracheostomy, coronavirus, COVID-19, SARS-CoV-2.

Published
2022

22. Lower On‐Treatment Low‐Density Lipoprotein Cholesterol and Major Adverse Cardiovascular Events in Women and Men: Pooled Analysis of 10 ODYSSEY Phase 3 Alirocumab Trials

Author

Antonio J. Vallejo‐Vaz, Henry N. Ginsberg, Michael H. Davidson, Robert H. Eckel, Christopher P. Cannon, L. Veronica Lee, Laurence Bessac, Robert Pordy, Alexia Letierce, and Kausik K. Ray

Subjects
cardiovascular disease risk factors, cardiovascular events, low‐density lipoprotein cholesterol, proprotein convertase subtilisin/kexin type 9, women, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Background In statin trials, men and women derived similar relative risk reductions in cardiovascular events per 39 mg/dL low‐density lipoprotein cholesterol (LDL‐C) reduction. We explored whether lower LDL‐C levels and greater LDL‐C percentage reductions than those achieved with statins are associated with reduced major adverse cardiovascular event (MACE) rates in women as well as men. Methods and Results Data pooled from 10 phase 3 ODYSSEY randomized trials (n=4983) comparing alirocumab with control (placebo/ezetimibe) were assessed for association between 39 mg/dL lower on‐treatment LDL‐C and percentage LDL‐C change from baseline, and MACE risk by sex, using multivariable Cox regression. Mean baseline LDL‐C was 135 mg/dL (women) and 121 mg/dL (men). Average on‐treatment LDL‐C levels with alirocumab, ezetimibe, and placebo were 71, 114, and 134 mg/dL, respectively, in women (n=1882) and 52, 93, and 122 mg/dL, respectively, in men (n=3090). Overall, 36.5% and 58.7% of women and men, respectively, achieved on‐treatment LDL‐C

Published
2018
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23. Manifestaciones clínicas e imagenológicas de infección pulmonar en un paciente con enfisema bulloso

Author

Richard A. Sera Blanco, Moraima García Díaz, Alina J. Vallejo Ramírez, and Meylen Llanes González

Subjects
neumonía bacteriana, enfisema pulmonar: bulla infectada, tratamiento antimicrobiano: prueba funcional respiratoria, Medicine, Medicine (General), R5-920
Abstract

Se presentan los datos clínicos, radiológicos, tomográficos y espirométricos de un paciente de 49 años de edad, fumador inveterado, que asistió a la consulta del cuerpo de guardia por presentar fiebre de 38.5ºC, anorexia, pérdida de peso y tos. Se realizaron exámenes en los que se incluyeron el hemograma con diferencial, eritrosedimentación, esputo BAAR, esputo bacteriológico y citológico, hemocultivo, rayos X de tórax (vista posteroanterior), TAC de pulmón simple y prueba funcional respiratoria. El diagnóstico inicial fue neumonía adquirida en la comunidad, bulla enfisematosa infectada y enfermedad pulmonar obstructiva crónica. La evolución clínica y radiológica del paciente bajo tratamiento con antibióticos confirmó la sospecha diagnóstica.

Published
2015

27. Influence of chain length, particle size, and thermal treatment of dicarboxylic acid-functionalized titanium dioxide filler in polypropylene

Author

M. G. Peña-Juarez, Vladimir A. Escobar-Barrios, K. K. Gallegos-Medrano, J. A. Gonzalez-Calderon, Diego A. Santamaría-Razo, J. Vallejo Montesinos, and E. J. Gutierrez-Castañeda

Subjects
010302 applied physics, chemistry.chemical_classification, Polypropylene, Materials science, Mechanical Engineering, 02 engineering and technology, Thermal treatment, Glutaric acid, 021001 nanoscience & nanotechnology, Condensed Matter Physics, 01 natural sciences, law.invention, chemistry.chemical_compound, Dicarboxylic acid, Pimelic acid, chemistry, Chemical engineering, Mechanics of Materials, law, 0103 physical sciences, Titanium dioxide, General Materials Science, Particle size, Crystallization, 0210 nano-technology
Abstract

The influence of size and thermal treatment of titanium dioxide (TiO2) functionalized with dicarboxylic acids of different length chains on the crystallization of isotactic polypropylene (iPP) has been investigated. The functionalization and crystallization were analyzed by FTIR, DSC, XRD, and mechanical tests. The chain length is crucial, while glutaric acid favored α-nucleation, pimelic and azelaic promoted β-crystals. Pimelic acid was the best by increasing β-crystals up to 54.1% compared with pure iPP (4.7%). Regarding particle size, the smallest dimension increased β-nucleation by ~ 32%. While thermal treatment was applied, β-crystal content increased by ~ 22.7%. Regarding mechanical properties, the fillers presence decreased tensile stress and stiffness since the high content of β-crystals decrease elastic modulus. These results offer evidence that it is possible to prepare fillers able of selecting the type of crystallization since functionalized-TiO2 can promote α- or β-crystals by varying particle size, functionalization agent, and applying a thermal treatment. However, more detailed studies are needed to confirm these observations.

Published
2021

28. Familial hypercholesterolemia

Author

Kausik K. Ray, Antonio J. Vallejo-Vaz, Kanika I. Dharmayat, and Julia Brandts

Subjects
Male, 0301 basic medicine, Multifactorial Inheritance, Primary hypercholesterolemia, Treatment adherence, Endocrinology, Diabetes and Metabolism, Familial hypercholesterolemia, Disease, 030204 cardiovascular system & hematology, Bioinformatics, Lipid Metabolism, Inborn Errors, Hyperlipoproteinemia Type II, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Genetics, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, 1102 Cardiorespiratory Medicine and Haematology, Molecular Biology, Genetic testing, Nutrition and Dietetics, medicine.diagnostic_test, business.industry, nutritional and metabolic diseases, 1103 Clinical Sciences, Cholesterol, LDL, Cell Biology, Genetic Status, medicine.disease, Phenotype, 030104 developmental biology, Cardiovascular System & Hematology, 1101 Medical Biochemistry and Metabolomics, Clinical diagnosis, Mutation, Mutation (genetic algorithm), Female, lipids (amino acids, peptides, and proteins), Cardiology and Cardiovascular Medicine, business
Abstract

PURPOSE OF REVIEW: This review explores the concepts of monogenic and the so-called polygenic familial hypercholesterolemia and how the identification of familial hypercholesterolemia as a monogenic condition and its separation from polygenic primary hypercholesterolemia may have implications for clinical practice. RECENT FINDINGS: Through genetic testing, a mutation in any of the three known autosomal dominant familial hypercholesterolemia-causing genes is found in 60-80% of cases with a clinical diagnosis of definite familial hypercholesterolemia. As individuals with a polygenic basis for their hypercholesterolemia do not follow the same inheritance pattern observed in monogenic familial hypercholesterolemia, the use of family-based cascade screening in individuals with a polygenic origin is not recommend, as only 30% of relatives have an elevated LDL-C compared to the 50% in monogenic families. The presence of a causative monogenic mutation associates the highest cardiovascular risk vs. not having a mutation or having a polygenic background, providing prognostic information independent of LDL-C. It may also help assess intensity of interventions. Treatment adherence also seems to be higher after monogenic confirmation of hypercholesterolemia. SUMMARY: Knowledge about the genetic status of an individual with clinical familial hypercholesterolemia (monogenic vs. polygenic) can provide a more informed understanding to evaluating risk, managing disease and opportunities for screening strategies.

Published
2020

30. Atherothrombotic residual risk in coronary and peripheral artery disease patients on guideline-recommended antiplatelet monotherapy: baseline preliminary results from the RESRISK study

Author

C P Carrasco, P McMahon, S T Fatoba, Kanika I. Dharmayat, N Nzeakor, Antonio J. Vallejo-Vaz, Kausik K. Ray, and E Tolani

Subjects
Residual risk, medicine.medical_specialty, business.industry, Arterial disease, Internal medicine, medicine, Cardiology, Disease, Guideline, Cardiology and Cardiovascular Medicine, business, Baseline (configuration management)
Abstract

Introduction Greater recognition of a multi-factorial approach to risk factor control and use of guideline-recommended evidence-based therapies, including antiplatelets, have led to a decline in recurrent cardiovascular (CV) events among those with atherosclerotic CV disease (ASCVD). While residual risk still persists, recent evidence-based therapies have emerged which could further attenuate CV risk in these individuals, including novel drugs adjunct to antiplatelet therapies. Purpose The RESRISK study aims to quantify the residual atherothrombotic risk among a routine care cohort with ASCVD on guideline-recommended antiplatelet monotherapy (APMT). As a first step, we assessed the characteristics of participants at entry in the study, including risk factor burden, comorbidities and use of evidence-based medications. Methods A retrospective (2010–18) cohort of 758,325 patients with coronary (CAD) or peripheral artery disease (PAD) aged ≥18 years was derived from the UK Clinical Practice Research Datalink. Patients were selected if they were on recommended APMT according to ESC guidelines and NICE (aspirin for CAD; clopidogrel for PAD), were diagnosed with CAD/PAD prior to initiating APMT, and had ≥1 year of baseline data prior to index date (date of first APMT prescription). History of atrial fibrillation and haemorrhagic stroke led to exclusion. Results 174,210 patients with CAD (and no prior history of PAD) and 11,050 patients with PAD (and no prior history of CAD) met the inclusion criteria. Within the selection process for the PAD cohort, 51,114 patients were excluded due to being prescribed aspirin instead of clopidogrel. Baseline characteristics are shown in Table. Mean age was ∼70 years for both cohorts. While prevalence of hypertension was similar in both cohorts, presence of diabetes was 1.6 times higher in PAD patients. Stroke was 2.5 times more prevalent among PAD patients. The proportion of patients with systolic/diastolic blood pressure ≤130/≤85 mmHg were 41.6%/84.5% for CAD and 32.2%/80.6% for PAD (corresponding numbers for ≤140/≤90 mmHg were 67.8%/93.4% for CAD, and 58.8%/91.1% for PAD). Mean LDL-C was 2.4±0.9 and 2.6±1.1 mmol/L in CAD and PAD patients, with 10.7% and 9.5% of them, respectively, having an LDL-C Conclusions Among a contemporary cohort with ASCVD on guideline-recommended APMT, risk factor burden is high and attainment of guideline-recommended targets remains largely suboptimal. Prevalence of diabetes among PAD patients is particularly high. A large gap exists between guideline recommendations and guideline-recommended goal attainment. Greater attention to risk factor control and use of appropriate evidence-based therapy is required to reduce the potential risk of recurrent events among this high-risk population. Subsequent follow-up analysis with linkage to outcomes will provide quantification of the consequences of current practice on residual risk. Funding Acknowledgement Type of funding sources: Private company. Main funding source(s): All financial support for this research has been provided by Bayer plc. Table 1

Published
2021

31. Cardiomiopatía hipertrófica y síndrome de Wolff-Parkinson-White con bloqueo aurículo-ventricular completo. Una extraña asociación: Reporte de un caso Hypertrophic cardiomyopathy and Wolff-Parkinson-White Syndrome with complete auriculoventricular block. A strange association: Report of one case

Author

Franco J Vallejo, Paula A Montaña, Carlos Vesga, Antonio Miranda, José E Citelli, Alberto Negrete, and Efraín Gil

Subjects
Wolff-Parkinson-White, cardiomiopatía hipertrófica, bloqueo aurículo-ventricular infrahisiano, PRKGA2, haz de James, hypertrophic cardiomyopathy, infra-His auriculoventricular block, James bundle, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Paciente masculino de 22 años quien ingresa por episodio de síncope. En el electrocardiograma se encuentra patrón de Wolff-Parkinson-White y signos de sobrecarga auricular e hipertrofia ventricular izquierda con bloqueo aurículo-ventricular completo. El ecocardiograma transtorácico es compatible con cardiomiopatía hipertrófica no obstructiva. Se lleva a estudio electrofisiológico donde se encuentra pre-excitación por vía accesoria y bloqueo aurículo-ventricular infrahisiano; se realiza ablación y se implanta marcapasos bicameral.A 22 years old male patient is admitted for a syncope episode. An electrocardiogram shows a Wolff-Parkinson-White pattern and signs of auricular overload with left ventricular hypertrophy and complete auriculoventricular block. The transthoracic echocardiogram is compatible with non-obstructive hypertrophic cardiomyopathy. An electrophysiological study is carried out, finding pre-excitation through an accessory way and infra-His auriculoventricular block. An ablation is performed and a bicameral pacemaker is implanted.

Published
2007

32. Obstructive sleep apnoea syndrome, endothelial function and markers of endothelialization. Changes after CPAP.

Author

Rocio Muñoz-Hernandez, Antonio J Vallejo-Vaz, Angeles Sanchez Armengol, Rafael Moreno-Luna, Candela Caballero-Eraso, Hada C Macher, Jose Villar, Ana M Merino, Javier Castell, Francisco Capote, and Pablo Stiefel

Subjects
Medicine, Science
Abstract

This study tries to assess the endothelial function in vivo using flow-mediated dilatation (FMD) and several biomarkers of endothelium formation/restoration and damage in patients with obstructive sleep apnoea (OSA) syndrome at baseline and after three months with CPAP therapy.Observational study, before and after CPAP therapy.We studied 30 patients with apnoea/hypopnoea index (AHI) >15/h that were compared with themselves after three months of CPAP therapy. FMD was assessed non-invasively in vivo using the Laser-Doppler flowmetry. Circulating cell-free DNA (cf-DNA) and microparticles (MPs) were measured as markers of endothelial damage and the vascular endothelial growth factor (VEGF) was determined as a marker of endothelial restoration process.After three month with CPAP, FMD significantly increased (1072.26 ± 483.21 vs. 1604.38 ± 915.69 PU, p< 0.005) cf-DNA and MPs significantly decreased (187.93 ± 115.81 vs. 121.28 ± 78.98 pg/ml, p

Published
2015
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33. Escala de Percepciones de Madres y Padres Respecto a la Educación Sexual en Costa Rica

Author

Jennifer G. Bonilla-Alvarado, Raquel Aguilar-Mora, Mikaela Haase, Jean Carlo Canales-Mejicano, Josiane Pawlowski, Leonardo J. Vallejo-Palomo, Alexa M. Muñoz-Chacón, Sharon M. Gutiérrez-Espinoza, Jimena Solorzano-Cernas, Saray R. Mata-Cerdas, Gedy Z. M. Gómez, and Alejandro Ayon-Calvo

Abstract

La presente investigación tuvo como objetivo el desarrollo y estudio de evidencias de validez de una escala para evaluar las percepciones de personas adultas respecto a la educación sexual, tomando en cuenta sus actitudes, creencias y conocimientos respecto al tema. La recolección fue virtual con una muestra piloto de 21 madres y padres y una muestra final de 297 participantes entre 17 y 75 años de edad. Se utilizó la Escala de Percepciones Respecto a la Educación Sexual (EPES) desarrollada para esta investigación, el Test de Actitudes sobre Educación Sexual e ítems del Cuestionario de actitudes y creencias de Educación Sexual. Como resultados se obtuvo un nivel alto de confiabilidad (.92) según el alfa de Cronbach para la escala EPES desarrollada. El análisis factorial exploratorio sugirió relación entre los ítems en tres factores principales. Se observaron coeficientes de correlación aceptables entre la EPES y las demás escalas aplicadas, lo que indicó evidencias de validez convergente. El estudio incentiva al desarrollo de pruebas de medición de creencias y conocimientos de adultos acerca de la educación sexual dirigida a niños y jóvenes que viven en Costa Rica.

Published
2019

34. Facile preparation of BiVO4 thin film by screen-printing technique for its photocatalytic performance in the degradation of tetracycline under simulated sunlight irradiation

Author

J. Vallejo-Márquez, D. Sánchez-Martínez, Alejandro Vázquez, D.B. Hernández-Uresti, and Sergio Obregón

Subjects
Photoluminescence, Materials science, 010405 organic chemistry, Scanning electron microscope, General Chemistry, 010402 general chemistry, 01 natural sciences, Hydrothermal circulation, 0104 chemical sciences, Chemical engineering, Photocatalysis, Irradiation, Particle size, Thin film, Monoclinic crystal system
Abstract

BiVO4 films were prepared by a screen-printing technique on Corning glass substrate. The material employed to prepare the films was synthetized by the hydrothermal method. For comparative purposes, the BiVO4 was synthesized via solid state reaction and deposited in film form by the same technique. From the X-ray diffraction structural characterization it has been stated that BiVO4 films crystallized in the monoclinic structure. The characterization of BiVO4 films was complemented with scanning electron microscopy, which revealed a morphology of irregular form and dendritic type depending on the starting material. The thickness of the BiVO4 films were determined by profilometry. The film obtained from the hydrothermal method showed minor photoluminescence, i.e., the sample showed low recombination of electron–hole pairs. The highest photocatalytic activity in the degradation of tetracycline (TC) was presented for the BiVO4 films obtained from hydrothermal powders under simulated sunlight irradiation; attributed mainly to the surface area value, smaller particle size and lower recombination of electron–hole pairs. Mineralization degree of TC by BiVO4 films was determined by the total organic carbon analysis, reaching 50% after 24 h of irradiation. The main oxidizing species that was most influenced in the degradation of TC was the hydroxyl radical (OH·).

Published
2019

35. Isquemia aguda de miembros inferiores secundaria a ergortismo Acute ischemia of lower limbs secondary to ergotism

Author

Franco J Vallejo, Juan F Gómez, and Natalia Tamayo

Subjects
ergotismo, isquemia arterial aguda, nitroglicerina, ergotism, acute arterial ischemia, nitroglycerin, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Paciente de género femenino, de 21 años de edad, quien ingresó por dolor progresivo e intenso en miembros inferiores, y refirió antecedente reciente de ingestión de derivados del ergot. Al examen físico se observó ausencia de pulsos en ambos miembros inferiores. Por angiotomografia se documentó disminución severa, generalizada y bilateral, del calibre de los vasos arteriales de miembros inferiores. Se diagnosticó isquemia arterial aguda secundaria a ergotismo y se inició tratamiento con vasodilatadores y calcio-antagonistas, que resolvió los síntomas en su totalidad.21 years old female patient admitted for progressive and intense pain in lower limbs, that narrated a recent history of ergot ingestion. On physical examination there was absence of pulses in both lower limbs. Severe, generalized and bilateral decrease of caliber of arterial vessels of the lower limbs was documented by angiotomography. Acute arterial ischemia of lower limbs secondary to ergotism was diagnosed and treatment with vasodilators and calcium antagonists was initiated, resolving entirely the symptoms.

Published
2011

36. Aneurisma coronario micótico: Reporte de dos casos Mycotic coronary aneurysm

Author

Franco J Vallejo G, Eusse, Carlos Tenorio, Carlos Uribe, Andrés Fernández, and Juan C Ortiz

Subjects
stent, infección, aneurisma micótico, infection, mycotic aneurysm, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

En años recientes, el número de intervenciones percutáneas con implantación de stents ha incrementado de manera dramática, y a pesar del gran auge del dispositivo los reportes de infecciones son extremadamente raros. En este artículo se reportan dos casos de aneurismas micóticos luego de la implantación de stents con presentación y evolución clínicas diferentes.In recent years, the number of percutaneous interventions with stent implantation has increased dramatically. Despite the boom in this device, reports of infections are extremely rare. This article reports two cases of mycotic aneurysms after implantation of stents with different clinical presentation and evolution.

Published
2011

37. A meta-analysis of medications directed against PCSK9 in familial hypercholesterolemia

Author

John J.P. Kastelein, Julia Brandts, Rebecca Jones, Kausik K. Ray, Frederick J. Raal, Antonio J. Vallejo-Vaz, Mansour T. A. Sharabiani, Kanika I. Dharmayat, Universidad de Sevilla. Departamento de Medicina, Vascular Medicine, ACS - Pulmonary hypertension & thrombosis, and ACS - Atherosclerosis & ischemic syndromes

Subjects
0301 basic medicine, Oncology, medicine.medical_specialty, Apolipoprotein B, Genotype, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Hyperlipoproteinemia Type II, 03 medical and health sciences, 0302 clinical medicine, LDL-Cholesterol, Internal medicine, medicine, Humans, 1102 Cardiorespiratory Medicine and Haematology, Alirocumab, biology, business.industry, Anticholesteremic Agents, PCSK9, 1103 Clinical Sciences, Cholesterol, LDL, medicine.disease, Clinical trial, Study heterogeneity, Evolocumab, Meta-analysis, PCSK9 lowering medication, 030104 developmental biology, Pharmaceutical Preparations, Cardiovascular System & Hematology, biology.protein, Proprotein Convertase 9, Cardiology and Cardiovascular Medicine, business
Abstract

Background and aims Several medications targeting PCSK9 reduce LDL-cholesterol (LDL-C) in heterozygous familial hypercholesterolemia (HeFH). We aimed to assess in patients diagnosed clinically as HeFH, whether LDL-C reduction varied by different therapeutic approaches to PCSK9-targeting or by the underlying genetic variant. Methods We conducted a random-effects meta-analysis of randomised clinical trials assessing PCSK9-targeting therapies, namely alirocumab, evolocumab and inclisiran, in patients with clinically diagnosed HeFH and restricted analyses to those patients in whom genotypic data were available. A search of MEDLINE and Embase identified eligible trials published between inception and June 29, 2020. We included trials of sufficient duration to allow for a stable treatment effect: ~12 weeks for monoclonal antibodies (mAbs) (alirocumab, evolocumab) and ~1 year for small interfering RNA (siRNA) (inclisiran). Single-moderator meta-regression comparing mean percentage LDL-C reduction between mAbs and siRNA as well as PCSK9-targeting therapies between different genotypes was used to assess heterogeneity. Results Eight trials of HeFH met our inclusion criteria, including 1887 genotyped patients. Among monogenic HeFH cases (N = 1347) the LDL-C reduction from baseline was 46.12% (95%CI 48.4-43.9) for siRNA and 50.4% (59.3-41.4) for mAbs compared to control, without evidence of significant heterogeneity between treatment (QM = 0.32, df = 1, p = 0.57). Irrespective of therapeutic approach to PCSK9-targeting, reductions in LDL-C were generally consistent across genetic variants (LDL-Receptor variants, LDL-Receptor variants of unknown significance, Apolipoprotein B variants, two variants and no variant) (QM = 8.3, df = 4, p = 0.08). Conclusions Among patients with HeFH, the LDL-C-lowering effect of PCSK9-targeting medications did not show statistical heterogeneity across different drug-classes and across genetic variants.

Published
2021

38. LDL-cholesterol lowering and clinical outcomes in hypercholesterolemic subjects with and without a familial hypercholesterolemia phenotype: Analysis from the secondary prevention 4S trial

Author

Raul D. Santos, Terje R. Pedersen, Alberico L. Catapano, Gerald F. Watts, Evan A. Stein, Brian A. Ference, Antonio J. Vallejo-Vaz, Kausik K. Ray, Chris J. Packard, John J.P. Kastelein, Vascular Medicine, ACS - Pulmonary hypertension & thrombosis, and ACS - Atherosclerosis & ischemic syndromes

Subjects
0301 basic medicine, Relative risk reduction, medicine.medical_specialty, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Cardiovascular disease prevention, Placebo, Coronary artery disease, Hyperlipoproteinemia Type II, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Secondary Prevention, medicine, Humans, Family history, 1102 Cardiorespiratory Medicine and Haematology, business.industry, Absolute risk reduction, Statins, 1103 Clinical Sciences, Cholesterol, LDL, medicine.disease, Phenotype, Cholesterol, 030104 developmental biology, Cardiovascular System & Hematology, Simvastatin, LDL cholesterol, lipids (amino acids, peptides, and proteins), Cardiology and Cardiovascular Medicine, business, medicine.drug
Abstract

BACKGROUND AND AIMS: Trial evidence for the benefits of cholesterol-lowering is limited for familial hypercholesterolemia (FH) patients, since they have not been the focus of large outcome trials. We assess statin use in coronary artery disease (CAD) subjects with low-density lipoprotein cholesterol (LDL-C) ≥4.9 mmol/L with or without an FH phenotype. METHODS: The 4S trial randomized hypercholesterolemic CAD patients to simvastatin or placebo. We first stratified participants into baseline LDL-C

Published
2021

39. Prevalence of familial hypercholesterolemia phenotype and ten-year risk of cardiovascular events in a working population in primary prevention: The ICARIA study

Author

Andrea Sánchez-Ramos, Antonio J. Vallejo-Vaz, Carlos Catalina-Romero, C. Fernandez-Labandera, Eva Calvo Bonacho, Pedro Valdivielso, Miguel Ángel Sánchez-Chaparro, L. Quevedo-Aguado, Instituto de Salud Carlos III, European Commission, and Junta de Andalucía

Subjects
Adult, Male, medicine.medical_specialty, Familial hypercholesterolemia, Disease, Follow-up studies, Hyperlipoproteinemia Type II, Risk Factors, Diabetes mellitus, Internal medicine, Prevalence, medicine, Humans, Prospective cohort study, Risk assessment, business.industry, Proportional hazards model, Incidence (epidemiology), Hazard ratio, Cholesterol, LDL, Middle Aged, medicine.disease, Phenotype, Blood pressure, Cardiovascular diseases, Risk factors, Cardiovascular Diseases, Female, Cardiology and Cardiovascular Medicine, business, Prospective studies
Abstract

[Background and aims] We aimed to assess the prevalence of familial hypercholesterolaemia (FH) and to determine the incidence of cardiovascular events during a 10-year follow up in individuals with FH, compared to unaffected individuals in a working, middle-aged/young population., [Methods and results] 576,724 active workers (36 ± 10 years-old, 70% men) without cardiovascular disease were given regular health check-ups and followed for a median of 8.5 years (i.e., 4,123,927 person-years). The FH phenotype was defined according to validated low-density lipoprotein-cholesterol thresholds, adjusted for age and sex. The primary outcome was a first cardiovascular event, whether fatal or non-fatal. We found that 707 workers (0.12% or 1 in 816 individuals) met the criteria for a heterozygous FH phenotype. During the follow-up, cardiovascular events occurred in 23 of 707 (3.25%) subjects with the FH phenotype and in 3297 of 576,017 (0.57%) subjects without the FH phenotype (p, [Conclusions] Our findings confirmed the high incidence of cardiovascular disease in individuals with untreated FH. We showed that regular health check-ups in an active, and mostly young, working population could contribute to the early identification of FH. Therefore, this approach may provide an opportunity for early treatment., This work was supported by the Instituto de Salud Carlos III and Fondo Europeo de Desarrollo Regional-FEDER (grant number PI12/02812), in 2012; by the Instituto de Salud Carlos III (grant number PI18/01809), in 2018; and by a grant awarded to the CTS-159 group of Plan Andaluz de Investigación, Desarrollo e Innovación (PAIDI).

Published
2021

40. Effect of computerised, knowledge-based, clinical decision support systems on patient-reported and clinical outcomes of patients with chronic disease managed in primary care settings: a systematic review

Author

Marie line El Asmar, Kanika I Dharmayat, Antonio J Vallejo-Vaz, Ryan Irwin, Nikolaos Mastellos, [El Asmar,ML] Self Care Academic Research Unit, Imperial College London, London, UK. [Dharmayat,KI] Department of Primary Care and Public Health, Imperial Centre for Cardiovascular Disease Prevention, Imperial College London, London, UK. [Vallejo-Vaz,AJ] Imperial Centre for Cardiovascular Disease Prevention (ICCP), Department of Primary Care and Public Health, School of Public Health, Imperial College London. London, United Kingdom, London, UK. [Vallejo-Vaz,AJ] Department of Medicine, Faculty of Medicine, University of Seville, Seville, Spain. [Vallejo-Vaz,AJ] Clinical Epidemiology and Vascular Risk, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen del Rocío/Universidad de Sevilla/CSIC, Seville, Spain. [Irwin,R] Department of Primary Care Clinical Sciences, Institute of Applied Health Research, University of Birmingham, Birmingham, UK. [Mastellos,N] Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, UK., Universidad de Sevilla. Departamento de Medicina, Ministerio de Universidades, and Universidad de Sevilla

Subjects
Health Care::Health Services Administration::Patient Care Management::Delivery of Health Care [Medical Subject Headings], Diseases::Respiratory Tract Diseases::Bronchial Diseases::Asthma [Medical Subject Headings], IMPACT, Health Care::Health Services Administration::Patient Care Management::Disease Management [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Diabetes mellitus, general medicine (see internal medicine), PRACTITIONER PERFORMANCE, health informatics, Information Science::Information Science::Medical Informatics::Medical Informatics Applications::Information Systems::Decision Support Systems, Clinical [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Evaluation Studies as Topic::Clinical Trials as Topic::Controlled Clinical Trials as Topic::Randomized Controlled Trials as Topic [Medical Subject Headings], Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Chronic Disease [Medical Subject Headings], General Medicine, Informática médica, General medicine, Primary care, Health Care::Health Services Administration::Patient Care Management::Comprehensive Health Care::Primary Health Care [Medical Subject Headings], PRACTICE GUIDELINES, Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Lipid Metabolism Disorders::Dyslipidemias::Hyperlipidemias [Medical Subject Headings], Diseases::Musculoskeletal Diseases::Joint Diseases::Arthritis [Medical Subject Headings], General practice / Family practice, Life Sciences & Biomedicine, INTERVENTIONS, Adult, Health informatics, Information Science::Information Science::Information Storage and Retrieval [Medical Subject Headings], preventive medicine, Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Glucose Metabolism Disorders::Diabetes Mellitus [Medical Subject Headings], Diseases::Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Metabolic::Osteoporosis [Medical Subject Headings], Chronic disease, Information Science::Information Science::Information Services::Bibliography as Topic::Bibliometrics [Medical Subject Headings], 1117 Public Health and Health Services, primary care, Diseases::Cardiovascular Diseases::Vascular Diseases::Hypertension [Medical Subject Headings], Medicine, General & Internal, Medicina preventiva, Atención primaria de salud, General & Internal Medicine, Diabetes Mellitus, Humans, Diseases::Respiratory Tract Diseases::Lung Diseases::Lung Diseases, Obstructive::Pulmonary Disease, Chronic Obstructive [Medical Subject Headings], Patient Reported Outcome Measures, METAANALYSES, OF-CARDIOLOGY, Persons::Persons::Age Groups::Adult [Medical Subject Headings], RECORDS, Diseases::Cardiovascular Diseases::Vascular Diseases::Myocardial Ischemia [Medical Subject Headings], Preventive medicine, Science & Technology, Primary Health Care, MEDICATIONS, Enfermedad crónica, Diseases::Cardiovascular Diseases::Heart Diseases::Heart Failure [Medical Subject Headings], 1103 Clinical Sciences, Decision Support Systems, Clinical, Medicina interna, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Records as Topic::Medical Records::Medical Records Systems, Computerized::Electronic Health Records [Medical Subject Headings], Chronic Disease, 1199 Other Medical and Health Sciences
Abstract

[Objectives] Chronic diseases are the leading cause of disability globally. Most chronic disease management occurs in primary care with outcomes varying across primary care providers. Computerised clinical decision support systems (CDSS) have been shown to positively affect clinician behaviour by improving adherence to clinical guidelines. This study provides a summary of the available evidence on the effect of CDSS embedded in electronic health records on patient-reported and clinical outcomes of adult patients with chronic disease managed in primary care., [Design and eligibility criteria] Systematic review, including randomised controlled trials (RCTs), cluster RCTs, quasi-RCTs, interrupted time series and controlled before-and-after studies, assessing the effect of CDSS (vs usual care) on patient-reported or clinical outcomes of adult patients with selected common chronic diseases (asthma, chronic obstructive pulmonary disease, heart failure, myocardial ischaemia, hypertension, diabetes mellitus, hyperlipidaemia, arthritis and osteoporosis) managed in primary care., [Data sources] Medline, Embase, CENTRAL, Scopus, Health Management Information Consortium and trial register clinicaltrials.gov were searched from inception to 24 June 2020., [Data extraction and synthesis] Screening, data extraction and quality assessment were performed by two reviewers independently. The Cochrane risk of bias tool was used for quality appraisal., [Results] From 5430 articles, 8 studies met the inclusion criteria. Studies were heterogeneous in population characteristics, intervention components and outcome measurements and focused on diabetes, asthma, hyperlipidaemia and hypertension. Most outcomes were clinical with one study reporting on patient-reported outcomes. Quality of the evidence was impacted by methodological biases of studies., [Conclusions] There is inconclusive evidence in support of CDSS. A firm inference on the intervention effect was not possible due to methodological biases and study heterogeneity. Further research is needed to provide evidence on the intervention effect and the interplay between healthcare setting features, CDSS characteristics and implementation processes., [PROSPERO registration number] CRD42020218184.

Published
2021

41. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Author

Jie Lin, Snejana Tisheva, Ishwar C. Verma, Francesco Cipollone, Liam R. Brunham, Florentina Predica, Perla A.C. Gonzalez, Jocelyne Inamo, André R. Miserez, Belma Pojskic, Michel Farnier, Avishay Ellis, Katia Bonomo, Ibrahim Al-Zakwani, Maria Grazia Zenti, Humberto A. Lopez, Khairul Shafiq Ibrahim, Erkin M. Mirrakhimov, Alexey Meshkov, Jose P. de Moura, Muthukkaruppan Annamalai, Raul D. Santos, F. Paillard, Maria Del Ben, Jan Lacko, Miguel T. Rico, Ximena Reyes, Laura E.G. de Leon, Noor Shafina Mohd Nor, Ulrich Julius, Mohammed A. Batais, Dieter Böhm, Ta-Chen Su, Takuya Kobayashi, Magdalena Chmara, Marco Gebauer, Marcos M. Lima-Martínez, Ravshanbek D. Kurbanov, Daisaku Masuda, Amro El-Hadidy, Melanie Schüler, Francisco Fuentes, Florian J. Mayer, Helena Vaverkova, F. Ulrich Beil, Juraj Bujdak, Mario Stoll, Isabelle Ruel, Elena Dorn, Thomas M. Stulnig, Abubaker Elfatih, Rano B. Alieva, Jiri Vesely, Valérie Carreau, Cristina M. Sibaja, Sophie Béliard, Olivier Ziegler, Adriana Branchi, Daniel Schurr, G.B. John Mancini, Tai E. Shyong, Eric L.T. Siang, Mafalda Bourbon, Zerrin Yigit, Meral Kayıkçıoğlu, Jacques Genest, Wei Yu, Michal Vrablík, Shavkat U. Hoshimov, Dan Gaita, Antonio Pipolo, Ashraf H.A. AlQudaimi, Walter Speidl, Gianfranco Parati, Zaliha Ismail, Victoria M. Zubieta, René Valéro, Tomas Salek, Hana Halamkova, Gustavs Latkovskis, Nicole Allendorf-Ostwald, Agnes Perrin, Vladimir Soska, Anastasia Garoufi, Francisco Araujo, Nacu C. Portilla, Thomas Segiet, Charalambos Koumaras, Hila Knobler, Fatih Sivri, Hani Altaradi, Ivan Pećin, Long Jiang, Alexander Dressel, Marlena Woś, Jana Franekova, D. Agapakis, Quitéria Rato, Dirk J. Blom, Marcin A. Bartlomiejczyk, Krzysztof Dyrbuś, Maurizio Averna, Phivos Symeonides, Yung A. Chua, Asim Rana, András Nagy, Juan C.G. Cuellar, Alexander Jäkel, Maya Safarova, Neama Luqman, Amalia-Despoina Koutsogianni, Patrick Tounian, Jose A. Alvarez, Ada Cuevas, Corinna Richter, Sybil Charrieres, Vitaliy Zafiraki, Michalis Doumas, Angela Lux, Thanh Huong Truong, Elaine Chow, José Luis Díaz-Díaz, Jesus R.H. Almada, Sabine Füllgraf-Horst, Gustavo G. Retana, Claudio Borghi, Gianni Biolo, Ivajlo Tzvetkov, Patrícia Pais, Mehmet Akbulut, Kumiko Nagahama, Oner Ozdogan, Frank Leistikow, Jianxun He, Alexander R.M. Lyons, Poranee Ganokroj, Luis E.S. Mendia, Ann-Cathrin Koschker, Gabriela A.G. Ramirez, Dainus Gilis, Karin Balinth, José Ramiro Cruz, Paolo Calabrò, Alberico L. Catapano, Emmanouil Skalidis, Hamida Al-Barwani, Genovefa Kolovou, Carolyn S.P. Lam, Yoto Yotov, Yaacov Henkin, Gabriella Iannuzzo, Aimi Z. Razman, Alma B.M. Rodriguez, Hans Dieplinger, Darlington E. Obaseki, Ursulo J. Herrera, Arcangelo Iannuzzi, Christoph Säly, Elena Olmastroni, Francisco G. Padilla, S.A. Nazli, Ioanna Gouni-Berthold, Miriam Kozárová, Urh Groselj, Igor Shaposhnik, Lorenzo Iughetti, Nawal Rwaili, Cinthia E. Jannes, Andrea Bartuli, Mikhail Voevoda, Marat V. Ezhov, Yanyu Duan, Alper Sonmez, Mustafa Yenercag, Ariane Sultan, Natasza Gilis-Malinowska, Tavintharan Subramaniam, Mohamed Ashraf, Jing Pang, Kota Matsuki, Tao Jiang, Gerald Klose, Eduardo A.R. Rodriguez, Lucie Solcova, Riccardo Sarzani, Mahmoud Traina, Alejandra Vázquez Cárdenas, Gordon A. Francis, Adolat V. Ziyaeva, Ronen Durst, Maciej Banach, Francisco Silva, Heribert Schunkert, Børge G. Nordestgaard, Ziyou Liu, Ahmad Bakhtiar Md Radzi, Hana Rosolova, Andrea Bäßler, Abdulhalim Jamal Kinsara, Noël Peretti, Victor Gurevich, Margarita T. Tamayo, Abdullah Tuncez, Florian Höllerl, Ljubica Stosic, Jianguang Qi, Anja Kirschbaum, Jitendra P.S. Sawhney, Michael Scholl, Kausik K. Ray, Mohamed Bendary, Hapizah Nawawi, Adrienne Tarr, Barbora Nussbaumerova, B.C. Brice, Kurt Huber, Noor Alicezah Mohd Kasim, A. Rahman A. Jamal, Vaclava Palanova, Giacomo Biasucci, Pucong Ye, Eva Cubova, Roopa Mehta, Rüdiger Schweizer, Veronica Zampoleri, Jacek Jóźwiak, Alyaa Al-Khateeb, Jing Hong, Katarina Raslova, Kirsten B. Holven, Tatiana Rozkova, Reinhold Busch, Alexander Klabnik, Konrad Hein, Eloy A.Z. Carrillo, Robin Urbanek, Livia Pisciotta, Fatma Y. Coskun, Jose J.G. Garcia, Valerio Pecchioli, Azra D. Nalbantic, Weerapan Khovidhunkit, Jernej Kovac, Michaela Kadurova, Mohammed Al-Jarallah, Vita Saripo, Christos V. Rizos, Jie Peng, Ang L. Chua, Dorothee Deiss, Nor A.A. Murad, Aneta Stróżyk, See Kwok, Gökhan Alici, Gillian J. Pilcher, John J.P. Kastelein, Dmitry Duplyakov, Calin Lengher, Milena Budikova, C. Azzopardi, Christina Antza, Luis E.V. Arroyo, Khalid Al-Jumaily, Ahmad Al-Sarraf, Carlos A. Aguilar-Salinas, Erkayim Bektasheva, Arta Upena-RozeMicena, Qian Wang, Xumin Wang, Leah Leavit, Radzi Rahmat, Selim Topcu, Željko Reiner, Lorenzo Maroni, Matija Cevc, Elizabeth R. Cooremans, Masatsune Ogura, Tevfik Sabuncu, Ruy D Arjona Villicaña, Andrea Giaccari, Xuesong Fan, Auryan Szalat, Sanjaya Dissanayake, Etienne Khoury, Anja Vogt, Hermann Toplak, Alexis Baass, Isabel Palma, Gaelle Sablon, Dana A. Hay, Ya Yang, Margus Viigimaa, Erik S.G. Stroes, Dror Harats, Konstantin Krychtiuk, Zesen Liu, Aleksandra Parczewska, Yves Cottin, Yichen Qu, Mathilde Di-Fillipo, Agnieszka Konopka, Lamija Pojskic, Guadalupe J. Dominguez, Ahmet Temizhan, Roberto C. Chacon, Ibrahim E. Dural, Qiang Yong, G. Kees Hovingh, Kang Meng, Sandra Kutkiene, Julie Lemale, Reinhold Innerhofer, Alexandros D. Tselepis, Handrean Soran, Wolfgang König, Bassam Atallah, Olena Mitchenko, Jana Cepova, Eduardo M. Rodriguez, Ulrich Laufs, Norhidayah Rosman, Alena Lubasova, V. Durlach, Frederick J. Raal, Elyor Khodzhiboboev, Cristina Pederiva, Hui Yuan, Ashraf Reda, Fahad Alnouri, Konstantinos Tziomalos, Thanh T. Le, Jana Sirotiakova, Régis Hankard, Hector E.A. Cazares, Betsabel Rodriguez, Lenka Pavlickova, Assen Goudev, Julius Katzmann, Diana Boger, Wael Almahmeed, Katarina T. Podkrajsek, Sabina Zambon, Fahri Bayram, Nadia Citroni, Samir Rafla, Vincent Rigalleau, Aleksandr B. Shek, Hani Sabbour, Berenice G. Guzman, Shoshi Shpitzen, Eric Tarantino, Ahmed Bendary, Fedya Nikolov, Jean Bergeron, Stefan Kopf, Iva Rasulic, Gerald F. Watts, Muhammad I.A. Hafidz, Mehmet B. Yilmaz, Kathrin Biolik, Ira A. Haack, Robert A. Hegele, Sonia Dulong, Bartosz Wasąg, Osama Sanad, Susana Correia, Zhenjia Wang, Dana Biedermann, Christel König, Helena Podzimkova, Ihab Daoud, Mohammad Alghamdi, Dražen Perica, László Márk, Iosif Koutagiar, Volkan Dogan, Vladimir Blaha, Chandrashekhar K. Ponde, Katerina Valoskova, Amer A. Jabbar, Azhari Rosman, Sazzli Kasim, Mesut Demir, Ulugbek I. Nizamov, Aldo Ferreira-Hermosillo, Dilek Yesilbursa, Atef Elbahry, Arshad Abdulrasheed, Omer A. Elamin, Vasileios Athyros, Joanna Lewek, Gergely Nagy, Ursula Kassner, Jian Jiao, Klaus G. Parhofer, Charlotte Nzeyimana, Marcin Pajkowski, Stanislav Zemek, Jose J.C. Macías, Cornelius Müller, G. Sfikas, Leopoldo Pérez de Isla, Yulia Ragino, Fahad Al-Zadjali, Abdul Rais Sanusi, Anna Rita Roscini, Jean Ferrières, Selim Jambart, Jean Pierre Rabes, Laura Schreier, Hofit Cohen, Olivier S. Descamps, N. Lalic, Christine Stumpp, Antonio J. Vallejo-Vaz, Jutta Christmann, Manuela Casula, Mariko Harada-Shiba, Olga Lunegova, Ewa Starostecka, Nicolas D. Oca, Alain Carrié, Achilleas Attilakos, Savas Ozer, Andreea Dumitrescu, Jürgen Merke, Urte Aliosaitiene, Evangelos Liberopoulos, Manuel O. De los Rios Ibarra, Maria J. Virtuoso, Alessandro Lupi, Panagiotis Anagnostis, Ruth Agar, Dorota Ferrieres, George Liamis, José Eduardo Krieger, Mariann Harangi, Fouzia Sadiq, Francois Schiele, Saif Kamal, Mária Audikovszky, Peter Baumgartner, Marta Gazzotti, Daniel Gaudet, Ashanty F. Ortega, Marcin Gruchała, Philippe Moulin, Ljiljana Popovic, Luca Bonanni, E. 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Shah, Lukas Burda, Ersel Onrat, Manuel de los Reyes Barrera Bustillo, Mirjana Radovic, Arman Postadzhiyan, Nien-Tzu Chang, Aylin Yildirir, Martin Mäser, Bruno Fink, Svetlana Mosteoru, Ulrike Schatz, Luis A.V. Talavera, Magdalena Dusejovska, Richard Ceska, Faisal A. Al-Allaf, T.F. Ashavaid, Gereon Böll, Sona Machacova, Gonzalo C. Vargas, Antonio Gallo, Elina Pantchechnikova, Lukas Tichy, Gersina Rega-Kaun, Moses Elisaf, Branislav Vohnout, Antonio Bossi, Suad Al-Mukhaini, Natasa Rajkovic, Ursa Sustar, Merih Kutlu, Mohamed Sobhy, Britta Otte, Ana M. Medeiros, Borut Jug, Patrick Couture, Rodrigo Alonso, Wolfgang Seeger, Guzal J. Abdullaeva, Ahmet Celik, Nasreen Al-Sayed, Béla Benczúr, Petra E. Khoury, Rafezah Razali, Ma L.R. Osorio, Ruiying Zhang, Monica M.N. Usme, Humberto Garcia Aguilar, Ceyhun Ceyhan, Antje Spens, Christoph J. Binder, Volker Schrader, Terrance C.S. Jin, Neftali E.A. Villa, Aleksandra Michalska-Grzonkowska, Francesco Purrello, Marshima M. 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Shafy, Yuntao Li, Martine Paquette, Zuhier Awan, Arturo Pujia, Xiantao Song, Renata Cifkova, Alexandre C. Pereira, Ioannis Skoumas, Roman Cibulka, Tadej Battelino, Mariusz Gąsior, Ghada Kazamel, Lahore S.U. Shah, Eran Leitersdorf, Niki Katsiki, Daniel Elías-López, Khalid Al-Rasadi, Grete Talviste, Sarka Mala, Rocio M. Alvarado, Pavel Kraml, Gerret Paulsen, Angelina Passaro, Zsolt Karányi, Carine Ayoub, Vera Adamkova, Ivo Petrov, Turky H. Almigbal, Rohana Abdul Ghani, Franck Boccara, Brian W. McCrindle, François Martin, Jamshed J. Dalal, Shitong Cheng, Khalid Al-Waili, Chaoyi Zhang, Ramon M. Prado, Lubica Cibickova, Lubomira Fabryova, Tobias Wiesner, Thuhairah Hasrah Abdul Rahman, Tan J. Le, Marcello Arca, Sabine Scholl-Bürgi, Juan R. Saucedo, Georgijs Nesterovics, Carla V.M. Valencia, Alexander Stadelmann, Vasileios Kotsis, Lina Badimon, Shizuya Yamashita, Jose C.M. Oyervides, Lay K. 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I., Tziomalos K., Rallidis L., Kotsis V., Doumas M., Athyros V., Skalidis E., Kolovou G., Garoufi A., Bilianou E., Koutagiar I., Agapakis D., Kiouri E., Antza C., Katsiki N., Zacharis E., Attilakos A., Sfikas G., Koumaras C., Anagnostis P., Anastasiou G., Liamis G., Koutsogianni A.-D., Karanyi Z., Harangi M., Bajnok L., Audikovszky M., Mark L., Benczur B., Reiber I., Nagy G., Nagy A., Reddy L.L., Shah S.A.V., Ponde C.K., Dalal J.J., Sawhney J.P.S., Verma I.C., Altaey M., Al-Jumaily K., Rasul D., Abdalsahib A.F., Jabbar A.A., Al-ageedi M., Agar R., Cohen H., Ellis A., Gavishv D., Harats D., Henkin Y., Knobler H., Leavit L., Leitersdorf E., Rubinstein A., Schurr D., Shpitzen S., Szalat A., Casula M., Zampoleri V., Gazzotti M., Olmastroni E., Sarzani R., Ferri C., Repetti E., Sabba C., Bossi A.C., Borghi C., Muntoni S., Cipollone F., Purrello F., Pujia A., Passaro A., Marcucci R., Pecchioli V., Pisciotta L., Mandraffino G., Pellegatta F., Mombelli G., Branchi A., Fiorenza A.M., Pederiva 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B., Stoll, M., Stroes, E., Su, T. -C., Subramaniam, T., Susekov, A. V., Tilney, M., Tomlinson, B., Truong, T. H., Tselepis, A. D., Tybjaerg-Hansen, A., Vazquez Cardenas, A., Viigimaa, M., Wang, L., Yamashita, S., Kastelein, J. J. P., Bruckert, E., Vohnout, B., Schreier, L., Pang, J., Ebenbichler, C., Dieplinger, H., Innerhofer, R., Winhofer-Stockl, Y., Greber-Platzer, S., Krychtiuk, K., Speidl, W., Toplak, H., Widhalm, K., Stulnig, T., Huber, K., Hollerl, F., Rega-Kaun, G., Kleemann, L., Maser, M., Scholl-Burgi, S., Saly, C., Mayer, F. J., Sablon, G., Tarantino, E., Nzeyimana, C., Pojskic, L., Sisic, I., Nalbantic, A. D., Jannes, C. E., Pereira, A. C., Krieger, J. E., Petrov, I., Goudev, A., Nikolov, F., Tisheva, S., Yotov, Y., Tzvetkov, I., Baass, A., Bergeron, J., Bernard, S., Brisson, D., Brunham, L. R., Cermakova, L., Couture, P., Francis, G. A., Gaudet, D., Hegele, R. A., Khoury, E., Mancini, G. B. J., Mccrindle, B. W., Paquette, M., Ruel, I., Cuevas, A., Asenjo, S., Wang, X., Meng, K., Song, X., Yong, Q., Jiang, T., Liu, Z., Duan, Y., Hong, J., Ye, P., Chen, Y., Qi, J., Li, Y., Zhang, C., Peng, J., Yang, Y., Yu, W., Wang, Q., Yuan, H., Cheng, S., Jiang, L., Chong, M., Jiao, J., Wu, Y., Wen, W., Xu, L., Zhang, R., Qu, Y., He, J., Fan, X., Wang, Z., Chow, E., Pecin, I., Perica, D., Symeonides, P., Vrablik, M., Ceska, R., Soska, V., Tichy, L., Adamkova, V., Franekova, J., Cifkova, R., Kraml, P., Vonaskova, K., Cepova, J., Dusejovska, M., Pavlickova, L., Blaha, V., Rosolova, H., Nussbaumerova, B., Cibulka, R., Vaverkova, H., Cibickova, L., Krejsova, Z., Rehouskova, K., Malina, P., Budikova, M., Palanova, V., Solcova, L., Lubasova, A., Podzimkova, H., Bujdak, J., Vesely, J., Jordanova, M., Salek, T., Urbanek, R., Zemek, S., Lacko, J., Halamkova, H., Machacova, S., Mala, S., Cubova, E., Valoskova, K., Burda, L., Bendary, A., Daoud, I., Emil, S., Elbahry, A., Rafla, S., Sanad, O., Kazamel, G., Ashraf, M., Sobhy, M., El-Hadidy, A., Shafy, M. A., Kamal, S., Bendary, M., Talviste, G., Angoulvant, D., Boccara, F., Cariou, B., Carreau, V., Carrie, A., Charrieres, S., Cottin, Y., Di-Fillipo, M., Ducluzeau, P. H., Dulong, S., Durlach, V., Farnier, M., Ferrari, E., Ferrieres, D., Ferrieres, J., Gallo, A., Hankard, R., Inamo, J., Lemale, J., Moulin, P., Paillard, F., Peretti, N., Perrin, A., Pradignac, A., Rabes, J. P., Rigalleau, V., Sultan, A., Schiele, F., Tounian, P., Valero, R., Verges, B., Yelnik, C., Ziegler, O., Haack, I. A., Schmidt, N., Dressel, A., Klein, I., Christmann, J., Sonntag, A., Stumpp, C., Boger, D., Biedermann, D., Usme, M. M. N., Beil, F. U., Klose, G., Konig, C., Gouni-Berthold, I., Otte, B., Boll, G., Kirschbaum, A., Merke, J., Scholl, J., Segiet, T., Gebauer, M., Predica, F., Mayer, M., Leistikow, F., Fullgraf-Horst, S., Muller, C., Schuler, M., Wiener, J., Hein, K., Baumgartner, P., Kopf, S., Busch, R., Schomig, M., Matthias, S., Allendorf-Ostwald, N., Fink, B., Bohm, D., Jakel, A., Koschker, A. -C., Schweizer, R., Vogt, A., Parhofer, K., Konig, W., Reinhard, W., Bassler, A., Stadelmann, A., Schrader, V., Katzmann, J., Tarr, A., Steinhagen-Thiessen, E., Kassner, U., Paulsen, G., Homberger, J., Zemmrich, C., Seeger, W., Biolik, K., Deiss, D., Richter, C., Pantchechnikova, E., Dorn, E., Schatz, U., Julius, U., Spens, A., Wiesner, T., Scholl, M., Rizos, C. V., Sakkas, N., Elisaf, M., Skoumas, I., Tziomalos, K., Rallidis, L., Kotsis, V., Doumas, M., Athyros, V., Skalidis, E., Kolovou, G., Garoufi, A., Bilianou, E., Koutagiar, I., Agapakis, D., Kiouri, E., Antza, C., Katsiki, N., Zacharis, E., Attilakos, A., Sfikas, G., Koumaras, C., Anagnostis, P., Anastasiou, G., Liamis, G., Koutsogianni, A. -D., Karanyi, Z., Harangi, M., Bajnok, L., Audikovszky, M., Mark, L., Benczur, B., Reiber, I., Nagy, G., Nagy, A., Reddy, L. L., Shah, S. A. V., Ponde, C. K., Dalal, J. J., Sawhney, J. P. S., Verma, I. C., Altaey, M., Al-Jumaily, K., Rasul, D., Abdalsahib, A. F., Jabbar, A. A., Al-ageedi, M., Agar, R., Cohen, H., Ellis, A., Gavishv, D., Harats, D., Henkin, Y., Knobler, H., Leavit, L., Leitersdorf, E., Rubinstein, A., Schurr, D., Shpitzen, S., Szalat, A., Casula, M., Zampoleri, V., Gazzotti, M., Olmastroni, E., Sarzani, R., Ferri, C., Repetti, E., Sabba, C., Bossi, A. C., Borghi, C., Muntoni, S., Cipollone, F., Purrello, F., Pujia, A., Passaro, A., Marcucci, R., Pecchioli, V., Pisciotta, L., Mandraffino, G., Pellegatta, F., Mombelli, G., Branchi, A., Fiorenza, A. M., Pederiva, C., Werba, J. P., Parati, G., Carubbi, F., Iughetti, L., Iannuzzi, A., Iannuzzo, G., Calabro, P., Averna, M., Biasucci, G., Zambon, S., Roscini, A. R., Trenti, C., Arca, M., Federici, M., Del Ben, M., Bartuli, A., Giaccari, A., Pipolo, A., Citroni, N., Guardamagna, O., Bonomo, K., Benso, A., Biolo, G., Maroni, L., Lupi, A., Bonanni, L., Zenti, M. G., Matsuki, K., Hori, M., Ogura, M., Masuda, D., Kobayashi, T., Nagahama, K., Al-Jarallah, M., Radovic, M., Lunegova, O., Bektasheva, E., Khodzhiboboev, E., Erglis, A., Gilis, D., Nesterovics, G., Saripo, V., Meiere, R., Upena-RozeMicena, A., Terauda, E., Jambart, S., Khoury, P. E., Elbitar, S., Ayoub, C., Ghaleb, Y., Aliosaitiene, U., Kutkiene, S., Kasim, N. A. M., Nor, N. S. M., Ramli, A. S., Razak, S. A., Al-Khateeb, A., Kadir, S. H. S. A., Muid, S. A., Rahman, T. A., Kasim, S. S., Radzi, A. B. M., Ibrahim, K. S., Razali, S., Ismail, Z., Ghani, R. A., Hafidz, M. I. A., Chua, A. L., Rosli, M. M., Annamalai, M., Teh, L. K., Razali, R., Chua, Y. A., Rosman, A., Sanusi, A. R., Murad, N. A. A., Jamal, A. R. A., Nazli, S. A., Razman, A. Z., Rosman, N., Rahmat, R., Hamzan, N. S., Azzopardi, C., Mehta, R., Martagon, A. J., Ramirez, G. A. G., Villa, N. E. A., Vazquez, A. V., Elias-Lopez, D., Retana, G. G., Rodriguez, B., Macias, J. J. C., Zazueta, A. R., Alvarado, R. M., Portano, J. D. M., Lopez, H. A., Sauque-Reyna, L., Herrera, L. G. G., Mendia, L. E. S., Aguilar, H. G., Cooremans, E. R., Aparicio, B. P., Zubieta, V. M., Gonzalez, P. A. C., Ferreira-Hermosillo, A., Portilla, N. C., Dominguez, G. J., Garcia, A. Y. R., Cazares, H. E. A., Gonzalez, J. R., Valencia, C. V. M., Padilla, F. G., Prado, R. M., De los Rios Ibarra, M. O., Villicana, R. D. A., Rivera, K. J. A., Carrera, R. A., Alvarez, J. A., Martinez, J. C. A., de los Reyes Barrera Bustillo, M., Vargas, G. C., Chacon, R. C., Andrade, M. H. F., Ortega, A. F., Alcala, H. G., de Leon, L. E. G., Guzman, B. G., Garcia, J. J. G., Cuellar, J. C. G., Cruz, J. R. G., Garcia, A. H., Almada, J. R. H., Herrera, U. J., Sobrevilla, F. L., Rodriguez, E. M., Sibaja, C. M., Rodriguez, A. B. M., Oyervides, J. C. M., Vazquez, D. I. P., Rodriguez, E. A. R., Osorio, M. L. R., Saucedo, J. R., Tamayo, M. T., Talavera, L. A. V., Arroyo, L. E. V., Carrillo, E. A. Z., Isara, A., Obaseki, D. E., Al-Waili, K., Al-Zadjali, F., Al-Zakwani, I., Al-Kindi, M., Al-Mukhaini, S., Al-Barwani, H., Rana, A., Shah, L. S. U., Starostecka, E., Konopka, A., Lewek, J., Bartlomiejczyk, M., Gasior, M., Dyrbus, K., Jozwiak, J., Gruchala, M., Pajkowski, M., Romanowska-Kocejko, M., Zarczynska-Buchowiecka, M., Chmara, M., Wasag, B., Parczewska, A., Gilis-Malinowska, N., Borowiec-Wolna, J., Strozyk, A., Wos, M., Michalska-Grzonkowska, A., Medeiros, A. M., Alves, A. C., Silva, F., Lobarinhas, G., Palma, I., de Moura, J. P., Rico, M. T., Rato, Q., Pais, P., Correia, S., Moldovan, O., Virtuoso, M. J., Salgado, J. M., Colaco, I., Dumitrescu, A., Lengher, C., Mosteoru, S., Meshkov, A., Ershova, A., Rozkova, T., Korneva, V., Yu, K. T., Zafiraki, V., Voevoda, M., Gurevich, V., Duplyakov, D., Ragino, Y., Safarova, M., Shaposhnik, I., Alkaf, F., Khudari, A., Rwaili, N., Al-Allaf, F., Alghamdi, M., Batais, M. A., Almigbal, T. H., Kinsara, A., Alqudaimi, A. H. A., Awan, Z., Elamin, O. A., Altaradi, H., Rajkovic, N., Popovic, L., Singh, S., Stosic, L., Rasulic, I., Lalic, N. M., Lam, C., Le, T. J., Siang, E. L. T., Dissanayake, S., I-Shing, J. T., Shyong, T. E., Jin, T. C. S., Balinth, K., Buganova, I., Fabryova, L., Kadurova, M., Klabnik, A., Kozarova, M., Sirotiakova, J., Battelino, T., Kovac, J., Mlinaric, M., Sustar, U., Podkrajsek, K. T., Fras, Z., Jug, B., Cevc, M., Pilcher, G. J., Blom, D. J., Wolmarans, K. H., Brice, B. C., Muniz-Grijalvo, O., Diaz-Diaz, J. L., de Isla, L. P., Fuentes, F., Badimon, L., Martin, F., Lux, A., Chang, N. -T., Ganokroj, P., Akbulut, M., Alici, G., Bayram, F., Can, L. H., Celik, A., Ceyhan, C., Coskun, F. Y., Demir, M., Demircan, S., Dogan, V., Durakoglugil, E., Dural, I. E., Gedikli, O., Hacioglu, A., Ildizli, M., Kilic, S., Kirilmaz, B., Kutlu, M., Oguz, A., Ozdogan, O., Onrat, E., Ozer, S., Sabuncu, T., Sahin, T., Sivri, F., Sonmez, A., Temizhan, A., Topcu, S., Tuncez, A., Vural, M., Yenercag, M., Yesilbursa, D., Yigit, Z., Yildirim, A. B., Yildirir, A., Yilmaz, M. B., Atallah, B., Traina, M., Sabbour, H., Hay, D. A., Luqman, N., Elfatih, A., Abdulrasheed, A., Kwok, S., Oca, N. D., Reyes, X., Alieva, R. B., Kurbanov, R. D., Hoshimov, S. U., Nizamov, U. I., Ziyaeva, A. V., Abdullaeva, G. J., Do, D. L., Nguyen, M. N. T., Kim, N. T., Le, T. T., Le, H. A., Tokgozoglu, L., Catapano, A. L., Ray, K. K., and EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC), Borghi C

Subjects
Male, Settore MED/09 - Medicina Interna, Arterial disease, Cross-sectional study, Adult population, Coronary Disease, Disease, Global Health, Medical and Health Sciences, Doenças Cardio e Cérebro-vasculares, Anticholesteremic Agent, Monoclonal, Prevalence, Registries, Familial Hypercholesterolemia, Humanized, Stroke, 11 Medical and Health Sciences, LS2_9, Studies Collaboration, Anticholesteremic Agents, General Medicine, Heart Disease Risk Factor, Middle Aged, FHSC global registry data, Europe, Treatment Outcome, Lower prevalence, Guidance, lipids (amino acids, peptides, and proteins), Female, Proprotein Convertase 9, Familial hypercholesterolaemia, Life Sciences & Biomedicine, Human, Adult, medicine.medical_specialty, Combination therapy, FHSC global registry, heterozygous familial hypercholesterolaemia, Cardiovascular risk factors, Antibodies, Monoclonal, Humanized, Insights, Antibodies, NO, Hyperlipoproteinemia Type II, Clinician, Medicine, General & Internal, Internal medicine, General & Internal Medicine, Health Sciences, medicine, Humans, EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC), Cross-Sectional Studie, Science & Technology, Global Perspective, business.industry, Cholesterol, LDL, medicine.disease, Cross-Sectional Studies, Heart Disease Risk Factors, Hydroxymethylglutaryl-CoA Reductase Inhibitor, Hydroxymethylglutaryl-CoA Reductase Inhibitors, business
Abstract

Background The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Data were assessed overall and by WHO regions, sex, and index versus non-index cases. Findings Of the 61 612 individuals in the registry, 42 167 adults (21 999 [53.6%] women) from 56 countries were included in the study. Of these, 31 798 (75.4%) were diagnosed with the Dutch Lipid Clinic Network criteria, and 35 490 (84.2%) were from the WHO region of Europe. Median age of participants at entry in the registry was 46.2 years (IQR 34.3-58.0); median age at diagnosis of familial hypercholesterolaemia was 44.4 years (32.5-56.5), with 40.2% of participants younger than 40 years when diagnosed. Prevalence of cardiovascular risk factors increased progressively with age and varied by WHO region. Prevalence of coronary disease was 17.4% (2.1% for stroke and 5.2% for peripheral artery disease), increasing with concentrations of untreated LDL cholesterol, and was about two times lower in women than in men. Among patients receiving lipid-lowering medications, 16 803 (81.1%) were receiving statins and 3691 (21.2%) were on combination therapy, with greater use of more potent lipid-lowering medication in men than in women. Median LDL cholesterol was 5.43 mmol/L (IQR 4.32-6.72) among patients not taking lipid-lowering medications and 4.23 mmol/L (3.20-5.66) among those taking them. Among patients taking lipid-lowering medications, 2.7% had LDL cholesterol lower than 1.8 mmol/L; the use of combination therapy, particularly with three drugs and with proprotein convertase subtilisin-kexin type 9 inhibitors, was associated with a higher proportion and greater odds of having LDL cholesterol lower than 1.8 mmol/L. Compared with index cases, patients who were non-index cases were younger, with lower LDL cholesterol and lower prevalence of cardiovascular risk factors and cardiovascular diseases (all p, Pfizer Independent Grant for Learning Change [16157823]; Amgen; Merck Sharp Dohme; Sanofi-Aventis; Daiichi Sankyo; Regeneron; National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, UK; NIHR; Czech Ministry of Health [NU20-02-00261]; Canadian Institutes of Health Research; Austrian Heart Foundation; Tyrolean Regional Government; Gulf Heart Association, The EAS FHSC is an academic initiative that has received funding from a Pfizer Independent Grant for Learning & Change 2014 (16157823) and from investigator-initiated research grants to the European Atherosclerosis Society-Imperial College London from Amgen, Merck Sharp & Dohme, Sanofi-Aventis, Daiichi Sankyo, and Regeneron. KKR acknowledges support from the National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, UK. KID acknowledges support from a PhD Studentship from NIHR under the Applied Health Research programme for Northwest London, UK (the views expressed in this publication are those of the authors and not necessarily those of the National Health Service, the NIHR, or the Department of Health). TF was supported by a grant from the Czech Ministry of Health (NU20-02-00261). JG receives support from the Canadian Institutes of Health Research. The Austrian Familial Hypercholesterolaemia registry has been supported by funds from the Austrian Heart Foundation and the Tyrolean Regional Government. The Gulf Familial Hypercholesterolaemia registry was done under the auspices of the Gulf Heart Association.

Published
2021

42. A systematic review and meta-analysis of the efficacy of medications directed against PCSK9 in familial hypercholesterolemia

Author

Kanika I. Dharmayat, M. Taghavi Azar Sharabiani, Robert Jones, Antonio J. Vallejo-Vaz, Julia Brandts, J.J.P. Kastelein, Frederick J. Raal, and Kausik K. Ray

Subjects
medicine.medical_specialty, business.industry, Meta-analysis, Internal medicine, PCSK9, medicine, Familial hypercholesterolemia, Cardiology and Cardiovascular Medicine, medicine.disease, business
Published
2021

43. Prevalence of familial hypercholesterolemia phenotype in working population and incidence of cardiovascular events

Author

P. Martínez-Muñoz, Antonio J. Vallejo-Vaz, C. Fernandez-Labandera, P. Valdivielso Felices, L. Quevedo-Aguado, A. Sánchez Ramos, Eva Calvo-Bonacho, Carlos Catalina-Romero, and M.A. Sánchez-Chaparro

Subjects
Pediatrics, medicine.medical_specialty, business.industry, Incidence (epidemiology), medicine, Working population, Familial hypercholesterolemia, Cardiology and Cardiovascular Medicine, business, medicine.disease, Phenotype
Published
2021

44. La información genética en salud en América Latina: Algunos aspectos éticos y jurídicos

Author

Jorge Nicolás Lafferrière, Graciela Moya, Dagoberto Castro-Restrepo, J Vallejo, Gustavo Jimenez-Hernandez, Juan Camilo Álvarez Díaz, Libardo de Jesús Quintero Salazar, Gerardo Jiménez, Carolina Chmielak, Diadelis Ramírez, Farith Simón, Enrique Terán, Helgi Jung, Ronald Ramírez, Teresa Servian, Leonardo Geri, Rafael Santa María D’Angelo, Fernando Alberto Lacunza Murillo, Jorge Iván Vélez Amocho, Nancy Arroyo, Felipe Alfonzo, and Susana Blanco

Abstract

En el marco del proyecto de investigación colaborativo «La información genética en salud: algunos aspectos éticos y jurídicos», se invitó a los investigadores a distintos países de Latinoamérica a que brindaran información acerca de la regulación sobre bancos de datos genéticos y realización deestudios genéticos en sus respectivos países.

Published
2020

45. Characteristics of adults with heterozygous familial hypercholesterolaemia stratified by gender: preliminary analysis from the eas fhsc global registry on over 36,000 cases of familial hypercholesterolaemia

Author

Raul D. Santos, Tomáš Freiberger, Kanika I. Dharmayat, A.L. Catapano, Pedro Mata, Antonio J. Vallejo-Vaz, J.J.P. Kastelein, C. Stevens, Kees Hovingh, Handrean Soran, Kausik K. Ray, Julia Brandts, Gerald F. Watts, A. Lyons, and Frederick J. Raal

Subjects
Pediatrics, medicine.medical_specialty, business.industry, Medicine, Cardiology and Cardiovascular Medicine, business, Preliminary analysis
Published
2020

46. Triglyceride concentrations and non-high-density lipoprotein cholesterol goal attainment in the ODYSSEY phase 3 trials with alirocumab

Author

Lawrence A. Leiter, Kausik K. Ray, Antonio J. Vallejo-Vaz, Rita Samuel, Jonas Mandel, Alexia Letierce, Maja Bujas-Bobanovic, Dirk Müller-Wieland, Stefano Del Prato, Marja-Riitta Taskinen, Universidad de Sevilla. Departamento de Medicina, Regeneron Pharmaceuticals, Inc., and Sanofi

Subjects
Male, Cardiac & Cardiovascular Systems, Epidemiology, 030204 cardiovascular system & hematology, NON-HDL CHOLESTEROL, Full Research Paper, DISEASE, HYPERCHOLESTEROLEMIA, chemistry.chemical_compound, 0302 clinical medicine, non-high-density lipoprotein cholesterol, 030212 general & internal medicine, Lipoprotein cholesterol, proprotein convertase subtilisin, 2. Zero hunger, Alirocumab, goal attainment, low-density lipoprotein cholesterol, proprotein convertase subtilisin/kexin type 9, triglycerides, Middle Aged, REMNANT CHOLESTEROL, Non-high-density lipoprotein cholesterol, Treatment Outcome, Cardiovascular Diseases, SAFETY, lipids (amino acids, peptides, and proteins), Female, Seasons, Proprotein Convertase 9, Cardiology and Cardiovascular Medicine, Life Sciences & Biomedicine, kexin type 9, Goals, medicine.drug, medicine.medical_specialty, EZETIMIBE, Proprotein convertase subtilisin/kexin type 9, Antibodies, Monoclonal, Humanized, RESIDUAL RISK, 03 medical and health sciences, Ezetimibe, Internal medicine, medicine, Humans, Low-density lipoprotein cholesterol, Triglycerides, Science & Technology, Triglyceride, Dose-Response Relationship, Drug, business.industry, CARDIOVASCULAR-RISK PATIENTS, Non high density lipoprotein cholesterol, Cholesterol, LDL, EFFICACY, Goal attainment, Residual risk, Endocrinology, chemistry, INHIBITOR ALIROCUMAB, Cardiovascular System & Cardiology, Hydroxymethylglutaryl-CoA Reductase Inhibitors, business, Biomarkers, Lipoprotein
Abstract

Aims Guidelines recommend targeting non-high-density lipoprotein cholesterol to reduce cardiovascular risk. We assessed the impact of baseline triglycerides on non-high-density lipoprotein cholesterol goal attainment in 10 phase 3 trials with alirocumab versus control ( n = 4983). Methods Trials were grouped into four pools based on alirocumab dose (75–150 mg every 2 weeks), control (placebo/ezetimibe) and statin use. Baseline triglyceride quintiles were built within each pool. Non-high-density lipoprotein cholesterol goal attainment (very high risk: Results Higher baseline triglycerides were associated with a worse cardiovascular risk profile. Low-density lipoprotein cholesterol and non-high-density lipoprotein cholesterol increased with higher triglycerides, but the magnitude in non-high-density lipoprotein cholesterol was three- to four-fold higher compared with the increase in low-density lipoprotein cholesterol. Non-high-density lipoprotein cholesterol and low-density lipoprotein cholesterol percentage reductions from baseline with alirocumab were similar regardless of baseline triglycerides. A greater proportion of alirocumab-treated patients attained non-high-density lipoprotein cholesterol and low-density lipoprotein cholesterol goals compared with placebo or ezetimibe. Unlike low-density lipoprotein cholesterol goal attainment, non-high-density lipoprotein cholesterol goal attainment significantly declined with increasing baseline triglycerides ( p Conclusion Individuals with increased triglycerides have higher non-high-density lipoprotein cholesterol levels and lower rates of non-high-density lipoprotein cholesterol goal attainment (unlike low-density lipoprotein cholesterol goal attainment). Alirocumab improves non-high-density lipoprotein cholesterol goal attainment in this population. These results highlight the impact of triglycerides on non-high-density lipoprotein cholesterol and the need for novel therapies targeting triglyceride-related pathways.

Published
2020

47. Triglycerides and residual risk

Author

Laura Schreier, Pablo Corral, Antonio J. Vallejo-Vaz, and Kausik K. Ray

Subjects
medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, 03 medical and health sciences, chemistry.chemical_compound, Endocrinology & Metabolism, 0302 clinical medicine, Endocrinology, Risk Factors, Internal medicine, Diabetes mellitus, Fatty Acids, Omega-3, Internal Medicine, Vitamin D and neurology, Secondary Prevention, Medicine, Humans, Triglycerides, Hypolipidemic Agents, Hypertriglyceridemia, Nutrition and Dietetics, Triglyceride, business.industry, PCSK9, 1103 Clinical Sciences, Cholesterol, LDL, medicine.disease, Eicosapentaenoic acid, Residual risk, chemistry, Docosahexaenoic acid, Cardiovascular Diseases, lipids (amino acids, peptides, and proteins), business
Abstract

PURPOSE OF REVIEW: To review the recent evidence from observational/genetic/interventional studies addressing triglycerides and residual cardiovascular risk (CVRisk). RECENT FINDINGS: Large population-based and secondary prevention studies consistently show an association of higher triglycerides with increased CVRisk. This is compounded by genetic studies demonstrating an independent relationship between triglyceride raising or lowering genetic variants affecting triglyceride-rich lipoproteins (TRL) metabolism and CVRisk. Mendelian randomization analysis suggests the benefit of genetic lowering of triglycerides and LDL-cholesterol is similar per unit change in apolipoprotein-B. Among cholesterol-lowering trials, more intensive statin therapy produced greater CVRisk reductions in patients with higher TRL-cholesterol or triglycerides; proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibition led to similar triglycerides reduction but greater non-HDL-C or apolipoprotein-B reductions than fibrates or fish oils. Regarding n-3 fatty acids, A Study of Cardiovascular Events in Diabetes (ASCEND) and Vitamin D and Omega-3 Trial (VITAL) primary prevention trials with eicosapentaenoic acid (EPA) and docosahexaenoic acid failed to demonstrate cardiovascular benefits, Conversely, Reduction of Cardiovascular Events with Icosapent Ethyl-Intervention Trial (REDUCE-IT) using high-dose icosapent-ethyl (purified EPA) in primary (diabetes) and secondary prevention with hypertriglyceridemia showed significant cardiovascular events reductions (greater than expected by the observed triglycerides or apolipoprotein-B reductions, suggesting potential benefits through non-lipid pathways). SUMMARY: Evidence suggests higher triglycerides are a marker of CVRisk and may help identify patients who benefit from intensification of therapy. Moreover, genetic studies support a causal link between TRL/triglycerides and cardiovascular disease. Treatment with high-dose EPA may be of benefit in high-risk patients with hypertriglyceridemia to reduce CVRisk.

Published
2020

48. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action

Author

Claudia Stefanutti, Myra Tilney, Mutaz Alkhnifsawi, Carlos A. Aguilar-Salinas, Jean-Luc Eiselé, Raul D. Santos, Pedro Mata, Gloria Hastings, Gerald F. Watts, Inge Schalkers, Sarah D. de Ferranti, Francesco Fuggetta, Daniel Soffer, Brian Tomlinson, Rodrigo Alonso, Tania Leme da Rocha Martinez, Rody G. Sy, Maria Cristina de Oliveira Izar, Atsushi Nohara, Ákos G Gesztes, Laura Schreier, Nanette K. Wenger, Aram Zegerius, Leiv Ose, Letrillart Marion, David Marais, André R. Miserez, Lina Badimon, Ian Hamilton-Craig, Martin Prøven Bogsrud, Roopa Mehta, Stephen J. Nicholls, Lale Tokgozoglu, Samuel S. Gidding, Amy L. Peterson, Mariko Harada-Shiba, Sue Koob, Jules Payne, Emanuela Folco, Raman Puri, Meral Kayıkçıoğlu, Martha L. Tamayo, Michael D. Shapiro, David S. Wald, Børge G. Nordestgaard, Inese Maurina, Kristyna Cillíková, Antonio J. Vallejo-Vaz, Gerardo Elikir, Masahiro Koseki, Diana Maxwell, Ashraf Reda, Gunnar N Karlsson, Jasmine Patel, Lynne T. Braun, Greizy López, Jing Pang, Marcos M. Lima-Martínez, Urh Groselj, G. Kees Hovingh, Kausik K. Ray, Stacey R. Lane, Eric J.G. Sijbrands, Darien Wood, I.M. Gaspar, Pablo Corral, Alberico L. Catapano, Alejandra Vázquez-Cárdenas, Khalid Al-Rasadi, Luz M Bernal, Allison Jamison, Wael Almahmeed, Catherine D. Ahmed, Joep C. Defesche, Olivier S. Descamps, Tomáš Freiberger, Athanasios Pallidis, Dermot Neely, Gabriele Hanauer-Mader, Tiziana Sampietro, Liam R. Brunham, Patrícia Vieira de Luca, Mario Stoll, Michaela Wolf, Monica P Popescu, Regina Cuevas, Thomas A. Gaziano, George A. Mensah, Katherine Wilemon, Internal Medicine, and Ege Üniversitesi

Subjects
medicine.medical_specialty, Population, Specialty, Public policy, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Global Health, Hyperlipoproteinemia Type II, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Cost of Illness, medicine, Global health, Humans, 030212 general & internal medicine, education, education.field_of_study, Government, business.industry, Public health, medicine.disease, Call to action, cost of illness, global health, humans, hyperlipoproteinemia type II, practice guidelines as topic, public health, Family medicine, Practice Guidelines as Topic, Public Health, Cardiology and Cardiovascular Medicine, business
Abstract

ImportanceFamilial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 people around the world of every race and ethnicity. the lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. the World Health Organization recognized FH as a public health priority in 1998 during a consultation meeting in Geneva, Switzerland. the World Health Organization report highlighted 11 recommendations to address FH worldwide, from diagnosis and treatment to family screening and education. Research since the 1998 report has increased understanding and awareness of FH, particularly in specialty areas, such as cardiology and lipidology. However, in the past 20 years, there has been little progress in implementing the 11 recommendations to prevent premature atherosclerotic cardiovascular disease in an entire generation of families with FH. ObservationsIn 2018, the Familial Hypercholesterolemia Foundation and the World Heart Federation convened the international FH community to update the 11 recommendations. Two meetings were held: one at the 2018 FH Foundation Global Summit and the other during the 2018 World Congress of Cardiology and Cardiovascular Health. Each meeting served as a platform for the FH community to examine the original recommendations, assess the gaps, and provide commentary on the revised recommendations. the Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions. Tables listing country-specific government support for FH care, existing country-specific and international FH scientific statements and guidelines, country-specific and international FH registries, and known FH advocacy organizations around the world were created. Conclusions and RelevanceBy adopting the 9 updated public policy recommendations created for this document, covering awareness; advocacy; screening, testing, and diagnosis; treatment; family-based care; registries; research; and cost and value, individual countries have the opportunity to prevent atherosclerotic heart disease in their citizens carrying a gene associated with FH and, likely, all those with severe hypercholesterolemia as well. This guideline presents updated recommendations for management of familial hypercholesterolemia. (c) 2020 American Medical Association. All rights reserved., AmgenAmgen; Sanofi Regeneron Pharmaceuticals, Funding to support the 2 international meetings to achieve consensus was provided by Amgen and Sanofi Regeneron Pharmaceuticals.

Published
2020

49. Triglyceride-Rich Lipoprotein Cholesterol and Risk of Cardiovascular Events Among Patients Receiving Statin Therapy in the TNT Trial

Author

David D. Waters, Philip J. Barter, S. Matthijs Boekholdt, Antonio J. Vallejo-Vaz, John J.P. Kastelein, Rana Fayyad, Shari Melamed, G. Kees Hovingh, Kausik K. Ray, Cardiology, ACS - Atherosclerosis & ischemic syndromes, Vascular Medicine, ACS - Pulmonary hypertension & thrombosis, and ACS - Heart failure & arrhythmias

Subjects
Male, Time Factors, Atorvastatin, Coronary Disease, Disease, 030204 cardiovascular system & hematology, Cardiorespiratory Medicine and Haematology, Cardiovascular, chemistry.chemical_compound, 0302 clinical medicine, Risk Factors, Cause of Death, 030212 general & internal medicine, Myocardial infarction, triglycerides, Randomized Controlled Trials as Topic, Middle Aged, Cholesterol, Heart Disease, Treatment Outcome, 6.1 Pharmaceuticals, Disease Progression, Public Health and Health Services, Female, lipids (amino acids, peptides, and proteins), Cardiology and Cardiovascular Medicine, medicine.drug, Adult, medicine.medical_specialty, Lipoproteins, Clinical Trials and Supportive Activities, Clinical Sciences, Risk Assessment, LDL, lipids, 03 medical and health sciences, Clinical Research, Physiology (medical), Internal medicine, Mendelian randomization, medicine, Humans, atorvastatin calcium, Triglycerides, Heart Disease - Coronary Heart Disease, Aged, Dyslipidemias, Vascular disease, business.industry, Evaluation of treatments and therapeutic interventions, cholesterol, Cholesterol, LDL, medicine.disease, Atherosclerosis, cardiovascular diseases, Clinical trial, chemistry, Cardiovascular System & Hematology, Hydroxymethylglutaryl-CoA Reductase Inhibitors, business, Mace, Biomarkers, remnant-like particle cholesterol
Abstract

Background: Mendelian randomization data suggest that the genetic determinants of lifetime higher triglyceride-rich lipoprotein-cholesterol (TRL-C) are causally related to cardiovascular disease and therefore a potential therapeutic target. The relevance of TRL-C among patients receiving statins is unknown. We assessed the relationship between TRL-C and cardiovascular risk, and whether this risk was modifiable among patients receiving statins in the TNT trial (Treating to New Targets). Methods: Patients with coronary heart disease and low-density lipoprotein cholesterol (LDL-C) 130 to 250 mg/dL entered an 8-week run-in phase with atorvastatin 10 mg/d (ATV10). After this period, participants with LDL-C Results: ATV10 reduced TRL-C 10.7% from an initial TRL-C of 33.9±16.6 mg/dL. ATV80 led to an additional 15.4% reduction. Cardiovascular risk factors positively correlated with TRL-C. Among patients receiving ATV10, higher TRL-C was associated with higher 5-year MACE rates (Q1=9.7%, Q5=13.8%; hazard ratio Q5-versus-Q1, 1.48; 95% confidence interval, 1.15–1.92; P -trendP P -homogeneity=0.0053); results were consistent for triglycerides ( P -homogeneity=0.0101) and directionally similar for non–high-density lipoprotein cholesterol ( P -homogeneity=0.1387). Last, in adjusted analyses, a 1 SD percentage reduction in TRL-C with atorvastatin resulted in a significant lower risk of MACE (hazard ratio, 0.93; 95% confidence interval, 0.86–1.00; P =0.0482) independent of the reduction in LDL-C and of similar magnitude to that per 1 SD lowering in LDL-C (hazard ratio, 0.89; 95% confidence interval, 0.83–0.95; P =0.0008). Conclusions: The present post hoc analysis from TNT shows that increased TRL-C levels are associated with an increased cardiovascular risk and provides evidence for the cardiovascular benefit of lipid lowering with statins among patients who have coronary heart disease with high TRL-C. Clinical Trial Registration: URL: https://www.clinicaltrials.gov . Unique identifier: NCT00327691.

Published
2018

50. Role of the Renin-Angiotensin System and Aldosterone on Cardiometabolic Syndrome

Author

P. Stiefel, A. J. Vallejo-Vaz, S. García Morillo, and J. Villar

Subjects
Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Aldosterone facilitates cardiovascular damage by increasing blood pressure and through different mechanisms that are independent of its effects on blood pressure. In this respect, recent evidence involves aldosterone in the pathogenesis of metabolic syndrome. Although this relationship is complex, there is some evidence suggesting that different factors may play an important role, such as insulin resistance, renin-angiotensin-aldosterone system, oxidative stress, sodium retention, increased sympathetic activity, levels of free fatty acids, or inflammatory cytokines and adipokines. In addition to the classical pathway by which aldosterone acts through the mineralocorticoid receptors leading to sodium retention, aldosterone also has other mechanisms that influence cardiovascular tissue remodelling. Finally, overweight and obesity promote the adrenal secretion of aldosterone, increasing the predisposition to type 2 diabetes mellitus. Further studies are needed to better establish therapeutic strategies that act on the blockade of mineralocorticoid receptor in the treatment and prevention of cardiovascular diseases related to the excess of aldosterone and the metabolic syndrome.

Published
2011
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