0000000000926754

AUTHOR

Manuel Frías Vargas

showing 2 related works from this author

Autosomal recessive hypercholesterolemia in Spain.

2017

Abstract Background and aims Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain. Methods Data were collected from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. A literature search was performed up to June 2017, and all diagnostic genetic studies for familial hypercholesterolemia of Spain were reviewed. Results Seven patients with ARH were identified, 6 true homozygous and one compound heterozygous with a novel muta…

0301 basic medicineAdultGenetic MarkersMalemedicine.medical_specialtyHeterozygoteHypercholesterolemiaDiseaseFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosity03 medical and health sciences0302 clinical medicineInternal medicinemedicinePrevalenceHumansGenetic Predisposition to DiseaseRegistriesChildAdaptor Proteins Signal TransducingHypolipidemic Agentsbusiness.industryGenetic heterogeneityHomozygoteInfantCholesterol LDLMiddle Agedmedicine.diseaseAtherosclerosisUp-Regulation030104 developmental biologyEndocrinologyPhenotypeAutosomal Recessive HypercholesterolemiaSpainChild PreschoolCohortMutationDisease ProgressionFemaleCardiology and Cardiovascular MedicinebusinessDyslipidemiaRare diseaseAtherosclerosis
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Comprehensive management of risk factors in peripheral vascular disease. Expert consensus

2020

There is currently a degree of divergence among the main clinical practice guidelines on the management of risk factors for peripheral arterial disease (PAD). This project aims to gain understanding of the management of PAD risk factors in clinical practice and to reach a multidisciplinary consensus on the strategies to be followed in order to optimize its identification, treatment, and follow-up.A multidisciplinary consensus following the Delphi methodology.Professionals (n = 130) with extensive experience in PAD participated in this consultation. The results suggest that in order to optimize the control of risk factors, efforts should be aimed at: (1) promoting the involvement and awarene…

medicine.medical_specialtyConsensusVascular diseasebusiness.industryArterial diseaseDelphi methodExpert consensusGeneral MedicineDiseasemedicine.diseaseQuit smokingPeripheral Arterial DiseaseRisk FactorsMultidisciplinary approachDiabetes MellitusmedicineHumansAnkle Brachial IndexMedical prescriptionIntensive care medicinebusinessRevista Clínica Española (English Edition)
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