0000000000084717
AUTHOR
Rosa M. Sánchez-hernández
Homozygous Familial Hypercholesterolemia in Spain Prevalence and Phenotype-Genotype Relationship
Background— Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease. HoFH is caused by mutations in several genes, including LDL receptor ( LDLR ), apolipoprotein B ( APOB ), proprotein convertase subtilisin/kexin type 9 ( PCSK9 ), and LDL protein receptor adaptor 1 ( LDLRAP1 ). No epidemiological studies have assessed HoFH prevalence or the clinical and molecular characteristics of this condition. Here, we aimed to characterize HoFH in Spain. Methods and Results— Data were collected from the Spanish Dyslipidemia Regist…
Linking functional and relational service quality to customer satisfaction and loyalty: differences between men and women.
This study assessed differences between men and women in the association of perceptions of service quality with customer evaluations. Functional (efficiency with which the service is delivered) and relational (customers' emotional benefits, beyond the core performance, related to the social interaction of customers with employees) dimensions of service quality were measured as well as customer satisfaction and loyalty. The sample of 277 customers (191 men, 86 women), surveyed in 29 Mexican hotels, had a mean age of 38.1 yr. ( SD = 9.7) for men and 34.5 yr. ( SD = 11.0) for women. To be eligible for survey, customers had to have spent at least one night in the hotel in question. Analysis in…
Autosomal Recessive Hypercholesterolemia
Abstract Background Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. Objectives Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. Methods Published ARH cases were identified by electronic search. All corresponding authors and physicians known to treat these patients were asked to provide follow-up information, using a standardized protocol. Results We collected data for 52 patients (28 females, 24 males; 31.1 ± 17.1 years…
Autosomal recessive hypercholesterolemia in Spain.
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…